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Israelites

The Israelites were a group of Semitic-speaking tribes in the ancient Near East who, during the Iron Age, inhabited a part of Canaan. They were also an ethnoreligious group.

The name of Israel first appears in the Merneptah Stele of ancient Egypt, dated to about 1200 BCE. Modern scholarship considers that the Israelites emerged from groups of indigenous Canaanites and other peoples. They spoke an archaic form of the Hebrew language, which was a regional variety of the Canaanite languages, known today as Biblical Hebrew. In the Iron Age, the kingdoms of Israel and Judah emerged. The Kingdom of Israel, with its capital at Samaria, fell to the Neo-Assyrian Empire around 720 BCE; while the Kingdom of Judah, with its capital at Jerusalem, was destroyed by the Neo-Babylonian Empire in 586 BCE. Some of the Judean population was exiled to Babylon, but returned to Israel after Cyrus the Great conquered the region.

According to the Bible, the Israelites are the descendants of Jacob, a patriarch who was later renamed as Israel. Following a severe drought in Canaan, Jacob and his twelve sons fled to Egypt, where they eventually formed the Twelve Tribes of Israel. The Israelites were later led out of slavery in Egypt by Moses and conquered Canaan under Joshua's leadership, who was Moses's successor. Most modern scholars agree that the Torah does not provide an authentic account of the Israelites' origins, and instead view it as constituting their national myth. However, it is supposed that there may be a "historical core" to the narrative. The Bible also portrays the kingdoms of Israel and Judah as the successors of an earlier United Kingdom of Israel, though the historicity of the latter is disputed.

Jews and Samaritans both trace their ancestry to the ancient Israelites. Jews trace their ancestry to tribes that inhabited the Kingdom of Judah, including Judah, Benjamin and partially Levi, while the Samaritans claim their lineage from the remaining members of Ephraim, Manasseh, and Levi who were not deported in the Assyrian captivity after the fall of Israel. Other groups have also claimed affiliation with the Israelites.

Etymology
The first reference to Israel in non-biblical sources is found in the Merneptah Stele in c. 1209 BCE. The inscription is very brief and says: "Israel is laid waste and his seed is not". The inscription refers to a people, not an individual or nation state, who are located in central Palestine or the highlands of Samaria. Some Egyptologists suggest that Israel appeared in earlier topographical reliefs, dating to the Nineteenth Dynasty (i.e. reign of Ramesses II) or the Eighteenth Dynasty, but this reading remains controversial.

In the Hebrew Bible, Israel first appears in, where an angel gives the name to Jacob after the latter fought with him. The folk etymology given in the text derives Israel from yisra, "to prevail over" or "to struggle with", and El, a Canaanite-Mesopotamian creator god that is tenuously identified with Yahweh. However, modern scholarship interprets El as the subject, "El rules/struggles",  from sarar (שָׂרַר) 'to rule' (cognate with sar (שַׂר) 'ruler', Akkadian šarru 'ruler, king' ), which is likely cognate with the similar root sara (שׂרה) "fought, strove, contended".

Afterwards, Israel referred to the direct descendants of Jacob and gentiles (i.e. resident aliens) who assimilated in the Israelite community. Hebrew is a similar ethnonym but it is usually applied whenever Israelites are economically disadvantaged or migrants. It might also refer to their descent from Eber, the grandson of Noah.

During the period of the divided monarchy, "Israelites" referred to the inhabitants of the northern Kingdom of Israel, but eventually, included the inhabitants of the Kingdom of Judah in post-exilic usage.

In literature of the Second Temple period, "Israel" included the members of the united monarchy, the northern kingdom, and eschatological Israel. "Jew" (or "Judean") was another popular ethnonym but it might refer to a geographically restricted sub-group or to the inhabitants of the southern kingdom of Judah. In addition, works such as Ezra-Nehemiah pioneered the idea of an "impermeable" distinction between Israel and gentiles, on a genealogical basis. Other scholars argue that the distinction is based on religion. For example, Troy W. Martin argues that biblical Jewishness is based on adherence to 'covenantal circumcision', regardless of ancestry.

In Judaism, "Israelite", broadly speaking, refers to a lay member of the Jewish ethnoreligious group, as opposed to the priestly orders of Kohanim and Levites. In legal texts, such as the Mishnah and Gemara, ישראלי (Yisraeli), or Israelite, is used to describe Jews instead of יהודי (Yehudi), or Jew. In Samaritanism, Samaritans are not Jews יהודים (Yehudim). Instead, they are Israelites, which includes their Jewish brethren, or Israelite Samaritans.

Biblical narrative
The history of the Israelite people can be divided into these categories, according to the Hebrew Bible:

 * Pre-Monarchic Period (unknown to c. 1050 BCE)
 * The Israelites were named after their ancestor, Jacob/Israel, who was the grandson of Abraham. They were organized into 12 tribes: Reuben, Simeon, Levi, Judah, Dan, Naphtali, Gad, Asher, Issachar, Zebulun, Joseph (or Tribe of Ephraim and Tribe of Manasseh) and Benjamin. Originally, they went to Egypt after a famine in Canaan but were enslaved by the Egyptians. They escaped and organized themselves as a kritarchy, where they followed laws given by Moses. Afterwards, the Israelites conquered Canaan and fought with several neighbors until they established a monarchic state.
 * This period is covered by Genesis 12 to 1 Samuel 8.

 * United Monarchy (c. 1050–930 BCE)
 * As a monarchic state, the Israelite tribes were united by the leadership of Saul, David and Solomon. The reigns of Saul and David were marked by military victories and Israel's transition to a mini-empire with vassal states. Solomon's reign was relatively more peaceful and oversaw the construction of the First Temple, with the help of Phoenician allies. This Temple was where the Ark of the Covenant was stored; its former location was the City of David.
 * This period is covered by 1 Samuel 8 to 1 Kings 11 or alternatively, 1 Chronicles 10 to 2 Chronicles 9.

 * Divided Monarchy (c. 930–597 BCE)
 * The map of the Holy Land by Marino Sanudo (drawn in 1320).jpg, Pietro Vesconte, 1321, showing the allotments of the tribes of Israel. Described by Adolf Erik Nordenskiöld as "the first non-Ptolemaic map of a definite country" ]]The monarchic state was divided into two states, Israel and Judah, due to civil and religious disputes. Eventually, Israel and Judah met their demise after the Assyrian and Babylonian invasions respectively. According to the Biblical prophets, these invasions were divine judgments for religious apostasy and corrupt leadership.
 * This period is covered by 1 Kings 12 to 2 Kings 25 or alternatively, 2 Chronicles 10 to 2 Chronicles 36. The Book of Jonah narrates the prophet Jonah going to the Neo-Assyrian Empire to deliver a divine message.

 * Exilic Period (c. 597–538 BCE)
 * 12 Tribes of Israel Map.svg]]After the Babylonians invaded Judah, they deported most of its citizens to Babylon, where they lived as "exiles". Cyrus the Great conquered Babylon and established the First Persian Empire in 539 BCE. One year later, according to traditional dating, Cyrus permitted the Judahites to return to their homeland. This homeland was re-named as the Province of Yehud, which eventually became a satrapy of Eber-Nari.
 * This period is covered by the entirety of the Book of Daniel.

 * Persian Period (c. 539–331 BCE)
 * In 537–520 BCE, Zerubbabel became Yehud's governor and started work on the Second Temple, which was stopped. In 520–516 BCE, Haggai and Zechariah goaded the Judahites to resume work on the Temple. Upon completion, Joshua became its high priest. In 458–433 BCE, Ezra and Nehemiah led another group of Judahites to Yehud, with Artaxerxes's permission. Nehemiah rebuilt the temple after some unspecified disaster and removed foreign influence from the Judahite community. That said, some Judahites elected to stay in Persia, where they almost faced annihilation.
 * This period is covered by the entirety of the Book of Ezra, Book of Nehemiah, the Book of Esther, the Book of Haggai, the Book of Zechariah, and the Book of Malachi.

Historical Israelites
Efforts to confirm the biblical ethnogenesis of Israel through archaeology has largely been abandoned as unproductive. Many scholars see the traditional narratives as national myths with little historical value, but some posit that a small group of exiled Egyptians contributed to the Exodus narrative. William G. Dever cautiously identifies this group with the Tribe of Joseph, while Richard Elliott Friedman identifies it with the Tribe of Levi. Josephus quoting Manetho identifies them with the Hyksos. Other scholars believe that the Exodus narrative was a "collective memory" of several events from the Bronze Age.

In addition, it is unlikely that the Israelites overtook southern Levant by force, according to archaeological evidence. Instead, they branched out of indigenous Canaanite peoples that long inhabited the region, which included Syria, ancient Israel, and the Transjordan region. Their culture was monolatristic, with a primary focus on Yahweh (or El) worship, but after the Babylonian exile, it became monotheistic, with partial influence from Zoroastrianism. The latter decisively separated the Israelites from other Canaanites. The Israelites used the Canaanite script and communicated in a Canaanite language known as Biblical Hebrew. The language's modern descendant, modern Hebrew, is today the only surviving dialect of the Canaanite languages.

Gary Rendsburg argues that some archaic biblical traditions and other circumstantial evidence point to the Israelites emerging from the Shasu and other seminomadic peoples from the desert regions south of the Levant, later settling in the highlands of Canaan.

Origins
Several theories exist for the origins of historical Israelites. Some believe they descended from raiding groups, itinerant nomads such as Habiru and Shasu or impoverished Canaanites, who were forced to leave wealthy urban areas and live in the highlands. The prevailing academic opinion is that the Israelites were a mixture of peoples predominately indigenous to Canaan, with additional input from an Egyptian matrix of peoples, which most likely inspired the Exodus narrative. Israel's demographics were similar to the demographics of Ammon, Edom, Moab and Phoenicia.

Besides their focus on Yahweh worship, Israelite cultural markers were defined by body, food, and time, including male circumcision, avoidance of pork consumption and marking time based on the Exodus, the reigns of Israelite kings, and Sabbath observance. The first two markers were observed by neighboring west Semites besides the Philistines, who were of Mycenaean Greek origin. As a result, intermarriage with other Semites was common. But what distinguished Israelite circumcision from non-Israelite circumcision was its emphasis on 'correct' timing. Israelite circumcision also served as a mnemonic sign for the circumcised, where their 'unnatural' erect circumcised penis would remind them to behave differently in sexual matters. Yom-Tov Lipmann-Muhlhausen suggests that Israelite identity was based on faith and adherence to sex-appropriate commandments. For men, it was circumcision. For women, it was ritual sacrifice after childbirth.

Genealogy was another ethnic marker. It was a matter of cultural self-identity rather than biological descent. For example, foreign clans could adopt the identity of other clans, which subsequently changed their status from "outsider" to "insider". This applied to Israelites from different tribes and gentiles. Saul Oylan argued that foreigners automatically became Israelite if they lived in their territory, according to. That said, Israelites used genealogy to engage in narcissism of small differences but also, self-criticism since their ancestors included morally questionable characters such as Jacob. Both these traits represented the "complexities of the Jewish soul".

Names were significant in Israelite culture and indicated one's destiny and inherent character. Thus, a name change indicated a 'divine transformation' in one's 'destines, characters and natures'. These beliefs aligned with the Near Eastern cultural milieu, where names were 'intimately bound up with the very essence of being and inextricably intertwined with personality'.

In terms of appearance, rabbis described the Biblical Jews as being "midway between black and white" and having the "color of the boxwood tree". Assuming Yurco's debated claim that the Israelites are depicted in reliefs from Merneptah's temple at Karnak is correct, the early Israelites may have wore the same attire and hairstyles as non-Israelite Canaanites. Dissenting from this, Anson Rainey argued that the Israelites in the reliefs looked more similar to the Shasu. Based on biblical literature, it is implied that the Israelites distinguished themselves from peoples like the Babylonians and Egyptians by not having long beards and chin tufts. However, these fashion practices were upper class customs.

Early Israelite settlements
In the 12th century BCE, many Israelite settlements appeared in the central hill country of Canaan, which was formerly an open terrain. These settlements lacked evidence of pork consumption, compared to Philistine settlements, have four-room houses and lived by an egalitarian ethos, which was exemplified by the absence of elaborate tombs, governor's mansions, certain houses being bigger than others etc. They followed a mixed economy, which prioritized self-sufficiency, cultivation of crops, animal husbandry and small-scale craft production. New technologies such as terraced farming, silos for grain storage and cisterns for rainwater collection were simultaneously introduced.

These settlements were built by inhabitants of the "general Southland" (i.e. modern Sinai and the southern parts of Israel and Jordan), who abandoned their pastoral-nomadic ways. Canaanites who lived outside the central hill country were tenuously identified as Danites, Asherites, Zebulunites, Issacharites, Naphtalites and Gadites. These inhabitants do not have a significant history of migration besides the Danites, who allegedly originate from the Sea Peoples, particularly the Dan(an)u. Nonetheless, they intermingled with the former nomads, due to socioeconomic and military factors. Their interest in Yahwism and its concern for the underprivileged was another factor. Possible allusions to this historical reality in the Hebrew Bible include the aforementioned tribes, except for Issachar and Zebulun, descending from Bilhah and Zilpah, who were viewed as "secondary additions" to Israel.

El worship was central to early Israelite culture but currently, the number of El worshippers in Israel is unknown. It is more likely that different Israelite locales held different views about El and had 'small-scale' sacred spaces.

Himbaza et. al (2012) states that Israelite households were typically ill-equipped to handle conflicts between family members, which may explain the harsh sexual taboos enforced against acts like incest, homosexuality, polygamy etc. in. Whilst the death penalty was legislated for these ‘secret crimes’, they functioned as a warning, where offenders would confess out of fear and make appropriate reparations.

United Monarchy
The historicity of the United Monarchy is heavily debated among archaeologists and biblical scholars: biblical maximalists and centrists (Kenneth Kitchen, William G. Dever, Amihai Mazar, Baruch Halpern and others) argue that the biblical account is more or less accurate, biblical minimalists (Israel Finkelstein, Ze'ev Herzog, Thomas L. Thompson and others) argue that Israel and Judah never split from a singular state. The debate has not been resolved but recent archaeological discoveries by Eilat Mazar and Yosef Garfinkel show some support for the existence of the United Monarchy.

From 850 BCE onwards, a series of inscriptions mention the "House of David". They came from Israel's neighbors.

Kingdoms of Israel and Judah
Compared to the United Monarchy, the historicity of the Kingdom of Israel and Judah is widely accepted by historians and archaeologists. Their destruction by the Assyrians and Babylonians respectively is also confirmed by archaeological evidence and extrabiblical sources. Christian Frevel argues that Yahwism was rooted in the culture of the Kingdom of Israel, who introduced it to the Kingdom of Judah via Ahab's expansions and sociopolitical cooperation, which was prompted by Hazael's conquests.

Frevel has also argued that Judah was a 'vassal-like' state to Israel, under the Omrides. This theory has been rejected by other scholars, who argue that the archaeological evidence seems to indicate that Judah was an independent socio-political entity for most of the 9th century BCE.

Avraham Faust argues that there was continued adherence to the 'ethos of egalitarianism and simplicity' in the Iron Age II (10th-6th century BCE). For example, there is minimal evidence for temples and complex tomb burials, despite Israel and Judah being more densely populated than the Late Bronze Age. Four-room houses remained the norm. In addition, royal inscriptions were scarce, along with imported and decorated pottery.

The Kingdom of Israel was conquered by the Neo-Assyrian Empire around 720 BCE. The records of Sargon II of Assyria indicate that he deported part of the population to Assyria. This deportation became the basis for the Jewish idea of the Ten Lost Tribes of Israel. Some Israelites migrated to the southern kingdom of Judah, while those Israelites that remained in Samaria, concentrated mainly around Mount Gerizim, came to be known as Samaritans. Foreign groups were also settled by the Assyrians in the territories of the conquered kingdom.

The exiled Israelites from non-Judean regions faced assimilation into the Assyrian population, unlike their counterparts from Judea. While historical records indicate the disappearance of Israelite tribes from Galilee and Transjordan, it's plausible that many Israelites from Samaria survived and remained in the region. These survivors, contrary to Jewish tradition, are believed to have become the ancestors of the Samaritans, who followed Samaritanism. Research indicates that only a portion of this population intermarried with Mesopotamians settlers. In their native Samaritan Hebrew, the Samaritans identify as "Israel", "B'nai Israel" or "Shamerim/Shomerim" (i.e. "Guardians/Keepers/Watchers").

Towards the end of the same century, the Neo-Babylonian Empire emerged victorious over the Assyrians, leading to Judah's subjugation as a vassal state. In the early 6th century BC, a series of revolts in Judah prompted the Babylonian king Nebuchadnezzar II to lay siege to and destroy Jerusalem along with the First Temple, marking the kingdom's demise. Subsequently, a segment of the Judahite populace was exiled to Babylon in several waves. Judeans were progenitors of the Jews, who practiced Second Temple Judaism during the Second Temple period.

Later history
With the fall of Babylon to the rising Achaemenid Persian Empire, king Cyrus the Great issued a proclamation known as the Edict of Cyrus, encouraging the exiles to return to their homeland after the Persians raised it as an autonomous Jewish-governed province named Yehud. Under the Persians (c. 539–332 BCE), the returned Jewish population restored the city and rebuilt the Temple in Jerusalem. The Cyrus Cylinder is controversially cited as evidence for Cyrus allowing the Judeans to return. The returnees showed a "heightened sense" of their ethnic identity and shunned exogamy, which was treated as a "permissive reality" in Babylon. Circumcision was no longer a significant ethnic marker, with increased emphasis on genealogical descent or faith in Yahweh.

In 332 BCE, the Achaemenid Empire fell to Alexander the Great, and the region was later incorporated into the Ptolemaic Kingdom (c. 301–200 BCE) and the Seleucid Empire (c. 200–167 BCE). The Maccabean Revolt against Seleucid rule ushered in a period of nominal independence for the Jewish people under the Hasmonean dynasty (140–37 BCE). Initially operating semi-autonomously within the Seleucid sphere, the Hasmoneans gradually asserted full independence through military conquest and diplomacy, establishing themselves as the final sovereign Jewish rulers before a prolonged hiatus in Jewish sovereignty in the region.  Some scholars argue that Jews also engaged in active missionary efforts in the Greco-Roman world, which led to conversions. Several scholars, such as Scot McKnight and Martin Goodman, reject this view while holding that conversions occasionally occurred. A similar diaspora existed for Samaritans but their existence is poorly documented.

In 63 BCE, the Roman Republic conquered the kingdom. In 37 BCE, the Romans appointed Herod the Great as king of a vassal Judea. In 6 CE, Judea was fully incorporated into the Roman Empire as the province of Judaea. During this period, the main areas of Jewish settlement in the Land of Israel were Judea, Galilee and Perea, while the Samaritans had their demographic center in Samaria. Growing dissatisfaction with Roman rule and civil disturbances eventually led to the First Jewish–Roman War (66–73 CE), resulting in the destruction of Jerusalem and its Temple, which ended the Second Temple period. This event marked a cataclysmic moment in Jewish history, prompting a reconfiguration of Jewish identity and practice to ensure continuity. The cessation of Temple worship and disappearance of Temple-based sects facilitated the rise of Rabbinic Judaism, which stemmed from the Pharisaic school of Second Temple Judaism, emphasizing communal synagogue worship and Torah study, eventually becoming the predominant expression of Judaism. Concurrently, Christianity began to diverge from Judaism, evolving into a predominantly Gentile religion. Decades later, the Bar Kokhba revolt (132–135 CE) further diminished the Jewish presence in Judea, leading to a geographical shift of Jewish life to Galilee and Babylonia, with smaller communities scattered across the Mediterranean.

Jews and Samaritans share a connection with the biblical Land of Israel. Other groups claim continuity with the Israelites, including Pashtuns, British, Black Hebrew Israelites, Igbos Mormons, and evangelical Christians that subscribe to covenant theology. Some argue that some Palestinians descend from Israelites who were not exiled by the Romans.

Genetics

As of 2024, only one study has directly examined ancient Israelite genetic material. The analysis examined First Temple-era skeletal remains excavated in Abu Ghosh, and showed one male individual belonging to the J2 Y-DNA haplogroup, a set of closely-related DNA sequences thought to have originated in the Caucasus or Eastern Anatolia, as well as the T1a and H87 mitochondrial DNA haplogroups, the former of which has also been detected among Canaanites, and the latter in Basques, Tunisian Arabs, and Iraqis, suggesting a Mediterranean, Near Eastern, or perhaps Arabian origin.

A 2004 study (by Shen et al.) comparing Samaritans to several Jewish populations (including Ashkenazi Jews, Iraqi Jews, Libyan Jews, Moroccan Jews, and Yemenite Jews) found that "the principal components analysis suggested a common ancestry of Samaritan and Jewish patrilineages. Most of the former may be traced back to a common ancestor in what is today identified as the paternally inherited Israelite high priesthood (Cohanim), with a common ancestor projected to the time of the Assyrian conquest of the kingdom of Israel."

A 2020 study (by Agranat-Tamr et al.) stated that there was genetic continuity between Bronze Age and Iron Age southern Levantines, which included the Israelites and Judahites. They could be "modeled as a mixture of local earlier Neolithic populations and populations from the northeastern part of the Near East (e.g. Zagros Mountains, Caucasians/Armenians and possibly, Hurrians)". Reasons for the continuity include resilience from the Bronze Age collapse, which was mostly true for inland cities such as Tel Megiddo and Tel Abel Beth Maacah. Elsewhere, European-related and East African-related components were added to the population, from a north-south and south-north gradient respectively. Late Neolithic and Bronze Age Europeans and Somalis were used as representatives.

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions.

Clinically, ALD presents as a heterogeneous disorder, showing several distinct phenotypes, and no clear pattern of genotype–phenotype correlation. As an X-linked disorder, ALD presents most commonly in males; however, approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in timing of onset and in clinical severity, ranging from adrenal insufficiency alone to progressive paraparesis in early adulthood.

ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly cerotic acid (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic group.

Signs and symptoms
ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance. There have been seven phenotypes described in males with ABCD1 mutations and five in females. Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional instability, hyperactivity and disruptive behavior at school. Older patients affected with the cerebral form will present with similar symptoms. Untreated, cerebral ALD is characterized by progressive demyelination leading to a vegetative state and death. Adult males with an adrenomyeloneuropathy presentation typically present initially with muscle stiffness, paraparesis and sexual dysfunction. All patients with clinically recognized ALD phenotypes are at risk for adrenal insufficiency. There is no reliable way to predict which form of the disease an affected individual will develop, with multiple phenotypes being demonstrated within families. Onset of adrenal insufficiency is often the first symptom, appearing as early as two years of age.

Genetics
ALD is caused by mutations in ABCD1, located at Xq28 and demonstrates X-linked recessive inheritance. The gene ABCD1 encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid substrate into the peroxisomes for degradation. Mutations in this gene that interfere with this process cause this syndrome.

Males with an ABCD1 mutation are hemizygous, as they only have a single X chromosome. Female carriers will typically avoid the most severe manifestations of the disease, but often become symptomatic later in life. Although the detection of an ABCD1 mutation identifies an individual who is affected with a form of ALD, there is no genotype–phenotype correlation. Within a family, there will often be several different phenotypes, despite the presence of the same causative mutation. In one case, a family with six affected members displayed five different phenotypes. There are no common mutations that cause ALD, most are private or familial. Almost 600 different mutations have been identified, approximately half are missense mutations, one quarter are frameshifts, with in-frame deletions and splicing defects making up the remainder. The incidence of new mutations in ALD (those occurring spontaneously, rather than being inherited from a carrier parent) is estimated at 4.1%, with the possibility that these are due to germline mosaicism.

Pathogenesis
The exact cause for the varied collection of symptoms found in the different ALD phenotypes is not clear. The white matter of the brain, the Leydig cells of the testes and the adrenal cortex are the most severely affected systems. The excess VLCFA can be detected in almost all tissues of the body, despite the localization of symptoms. The lack of Coenzyme A does not permit the disintegration of the VLCFA, accumulating the same in the white matter, adrenal glands, and the testes more specifically in the Leydig cells not allowing the proper function of these organs. Successful treatment of the demyelination process that affects the brain with either stem cell transplant or gene therapy does not immediately normalize the VLCFA levels in body tissues. The levels of VLCFA can be normalized by treatment with Lorenzo's oil, but this does not alter the progression of the disease. It is unclear whether the accumulation of VLCFA is associated with the pathogenesis of the disease in a specific way, or if it is a biochemical phenotype, useful for identification.

Diagnosis
The clinical presentation of ALD can vary greatly, making diagnosis difficult. With the variety of phenotypes, clinical suspicion of ALD can result from a variety of different presentations. Symptoms vary based on the disease phenotype, and even within families or between twins. When ALD is suspected based on clinical symptoms, the initial testing usually includes plasma very long chain fatty acid (VLCFA) determination using gas chromatography-mass spectrometry. The concentration of unsaturated VLCFA, particularly 26 carbon chains is significantly elevated in males with ALD, even prior to the development of other symptoms. Confirmation of ALD after positive plasma VLCFA determination usually involves molecular genetic analysis of ABCD1. In females, where plasma VLCFA measurement is not always conclusive (some female carriers will have normal VLCFA in plasma), molecular analysis is preferred, particularly in cases where the mutation in the family is known. Although the clinical phenotype is highly variable among affected males, the elevations of VLCFA are present in all males with an ABCD1 mutation.

Because the characteristic elevations associated with ALD are present at birth, well before any symptoms are apparent, there have been methods developed in the interests of including it in newborn screening programs. One of the difficulties with ALD as a disease included in universal newborn screening is the difficulty in predicting the eventual phenotype that an individual will express. The accepted treatment for affected boys presenting with the cerebral childhood form of the disease is a bone marrow transplant, a procedure which carries significant risks. However, because most affected males will demonstrate adrenal insufficiency, early discovery and treatment of this symptom could potentially prevent complications and allow these patients to be monitored for other treatment in the future, depending on the progression of their disease.

The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe. It was developed by neuroradiologist Daniel J. Loes MD and is an important tool in assessing disease progression and the effectiveness of therapy.

Dietary therapy
Initial attempts at dietary therapy in ALD involved restricting the intake of very-long chain fatty acids (VLCFA). Dietary intake is not the only source for VLCFA in the body, as they are also synthesized endogenously. This dietary restriction did not impact the levels of VLCFA in plasma and other body tissues. After the realization that endogenous synthesis was an important contribution to VLCFA in the body, efforts at dietary therapy shifted to inhibiting these synthetic pathways in the body. The parents of Lorenzo Odone, a boy with ALD, spearheaded efforts to develop a dietary treatment to slow the progression of the disease. They developed a mixture of unsaturated fatty acids (glycerol trioleate and glyceryl trierucate in a 4:1 ratio), known as Lorenzo's oil that inhibits elongation of saturated fatty acids in the body. Supplementation with Lorenzo's oil has been found to normalize the VLCFA concentrations in the body, although its effectiveness at treating the cerebral manifestations of the disease is still controversial and unproven. Trials with Lorenzo's oil have shown that it does not stop the neurological degradation in symptomatic patients, nor does it improve adrenal function, but asymptomatic patients, and speculatively AMN variants without cerebral involvement, as well as female carriers may benefit from early intake of oleic and erucic acids in addition to VLCFA restriction.

Adrenomix®: In 2009, a second-generation mixture was created, adding to the glycerol trioleate (GTO) and trierucate glycerol (GTE), conjugated linoleic acid (CLA) a group of linoleic acid isomers capable of overcoming the blood-brain barrier. CLA, through the activation of peroxisome beta oxidation, increases the catabolism of pro-inflammatory molecules and ROS, acting as an anti-inflammatory and antioxidant. The use of CLA was initially considered in relation to the ability to inhibit fatty acid synthase together with a hypolipidic diet. A group of Italian researchers of the Bambino Gesù Pediatric Hospital in Rome showed that the administration of Adrenomix (GTO, GTE and CLA), in addition to decreasing levels of VLCFA throughout the body, reduces neuro inflammation and improves somatosensory evoked potential, found unchanged or worsened with only administration of GTO and GTE.

Aldixyl®: In 2016, based on studies developed in recent years in the field of adrenoleukodystrophy and adrenomyelouropathy, a mixture was developed that adds to GTO, GTE and CLA, a mixture of powerful antioxidants at high dosages containing alpha lipoic acid (ALA), reduced L- glutathione and Vitamin E (α- tocopherol). Researchers at the IDIBELL- Hospital Duran i Reynals in Barcelona have shown that the early administration of a cocktail of powerful antioxidants, able to overcome the blood-brain barrier and thus carry out its activity at the CNS level, prevents the oxidative stress typical of the disease, intervenes on the initial axonal dysfunctions and therefore on locomotor damage. This new mixture, unlike what happened with the administration of GTO and GTE alone, poorly accumulated at the level of the nervous system, enhances the anti-inflammatory activity and reduces the levels of VLCFA in the CNS by combining synergistically the activity of its components. In particular, CLA, in addition to overcoming the blood-brain barrier and regulating at the CNS level the metabolism of VLCFA is able to influence the catabolism of pro-inflammatory eicosanoids and lipid peroxidation products. In this sense, the anti-inflammatory activity of ALA, reduced L-glutathione and Vitamin E is enhanced at the level of the whole body, and not only at the peripheral level as was the case in the past.

Transplant
While dietary therapy has been shown to be effective to normalize the very-long chain fatty acid concentrations in the plasma of individuals with ALD, allogeneic hematopoietic stem cell transplants is the only treatment that can stop demyelination that is the hallmark of the cerebral forms of the disease. In order to be effective, the transplant must be done at an early stage of the disease; if the demyelination has progressed, transplant can worsen the outcome, and increase the rate of decline. While transplants have been shown to be effective at halting the demyelination process in those presenting with the childhood cerebral form of ALD, follow-up of these patients has shown that it does not improve adrenal function.

Gene therapy
For patients where an appropriate match for a transplant cannot be found, there have been investigations into the use of gene therapy. Appropriate vectors are selected and modified to express wild type ABCD1, which is then transplanted into the patients using a similar procedure as for a bone marrow or stem cell transplant. Gene therapy has only been tried on a small number of patients, mainly in France. These patients were only considered for gene therapy after there was no HLA match for a traditional transplant. In two reported cases, the gene therapy was successful, with a resolution of the demyelination process up to two years after the procedure. Although the gene therapy was successful in resolving the neurological symptoms, plasma VLCFA levels remained elevated.

Elivaldogene autotemcel is pending authorization by the European Commission. While this treatment is effective with 90% of patients being free of major functional disabilities after treatment, it costs $3.0 million per treatment and it comes with several adverse effects including mucositis and alopecia.

Adrenal insufficiency
Treatment of the adrenal insufficiency that can accompany any of the common male phenotypes of ALD does not resolve any of the neurological symptoms. Hormone replacement is standard for ALD patients demonstrating adrenal insufficiency. Adrenal insufficiency does not resolve with successful transplant; most patients still require hormone replacement.

Epidemiology
ALD has not been shown to have an increased incidence in any specific country or ethnic group. In the United States, the incidence of affected males is estimated at 1:21,000. Overall incidence of hemizygous males and carrier females is estimated at 1:16,800. The reported incidence in France is estimated at 1:22,000.

Asymptomology
There are documented asymptomatic males who present no ALD symptoms well into their 60s and 70s. It's not understood how they can have an ABCD1 gene variant and possess elevated VLCFAs and not exhibit either Cerebral ALD, Adrenal Insufficiency, or Adrenomyeloneuropathy symptoms. Daughters of asymptomatic males become obligate carriers, who may themselves be asymptomatic and who can pass the variant onto their children, which then silently perpetuates ALD. Sons of asymptomatic males only receive their father's Y chromosome and therefore can't inherit ALD.

license: Creative Commons - Attribution Share-Alike - https://creativecommons.org/licenses/by-sa/4.0/

title: Adrenoleukodystrophy


text:
Hypermodernism

Hypermodernism may refer to:
 * Hypermodernism (chess), a chess strategy which advocates controlling the center of the board with distant pieces rather than pawns
 * Hypermodernism (art), a cultural, artistic, literary and architectural movement
 * Hypermodernity, a deepening or intensification of modernity

title: Hypermodernism


text:
Bell's palsy

Bell's palsy is a type of facial paralysis that results in a temporary inability to control the facial muscles on the affected side of the face. In most cases, the weakness is temporary and significantly improves over weeks. Symptoms can vary from mild to severe. They may include muscle twitching, weakness, or total loss of the ability to move one or, in rare cases, both sides of the face. Other symptoms include drooping of the eyebrow, a change in taste, and pain around the ear. Typically symptoms come on over 48 hours. Bell's palsy can trigger an increased sensitivity to sound known as hyperacusis.

The cause of Bell's palsy is unknown and it can occur at any age. Risk factors include diabetes, a recent upper respiratory tract infection, and pregnancy. It results from a dysfunction of cranial nerve VII (the facial nerve). Many believe that this is due to a viral infection that results in swelling. Diagnosis is based on a person's appearance and ruling out other possible causes. Other conditions that can cause facial weakness include brain tumor, stroke, Ramsay Hunt syndrome type 2, myasthenia gravis, and Lyme disease.

The condition normally gets better by itself, with most achieving normal or near-normal function. Corticosteroids have been found to improve outcomes, while antiviral medications may be of a small additional benefit. The eye should be protected from drying up with the use of eye drops or an eyepatch. Surgery is generally not recommended. Often signs of improvement begin within 14 days, with complete recovery within six months. A few may not recover completely or have a recurrence of symptoms.

Bell's palsy is the most common cause of one-sided facial nerve paralysis (70%). It occurs in 1 to 4 per 10,000 people per year. About 1.5% of people are affected at some point in their lives. It most commonly occurs in people between ages 15 and 60. Males and females are affected equally. It is named after Scottish surgeon Charles Bell (1774–1842), who first described the connection of the facial nerve to the condition.

Although defined as a mononeuritis (involving only one nerve), people diagnosed with Bell's palsy may have "myriad neurological symptoms", including "facial tingling, moderate or severe headache/neck pain, memory problems, balance problems, ipsilateral limb paresthesias, ipsilateral limb weakness, and a sense of clumsiness" that are "unexplained by facial nerve dysfunction".

Signs and symptoms
Bell's palsy is characterized by a one-sided facial droop that comes on within 72 hours. In rare cases (<1%), it can occur on both sides resulting in total facial paralysis.

The facial nerve controls a number of functions, such as blinking and closing the eyes, smiling, frowning, lacrimation, salivation, flaring nostrils and raising eyebrows. It also carries taste sensations from the anterior two-thirds of the tongue, through the chorda tympani nerve (a branch of the facial nerve). Because of this, people with Bell's palsy may present with loss of taste sensation in the anterior $2/3$ of the tongue on the affected side.

Although the facial nerve innervates the stapedius muscle of the middle ear (through the tympanic branch), sound sensitivity, causing normal sounds to be perceived as very loud (hyperacusis), and dysacusis are possible but hardly ever clinically evident.

Cause
The cause of Bell's palsy is unknown. Risk factors include diabetes, a recent upper respiratory tract infection, and pregnancy.

Some viruses are thought to establish a persistent (or latent) infection without symptoms, e.g., the varicella zoster virus and the Epstein–Barr virus, both of the herpes family. Reactivation of an existing (dormant) viral infection has been suggested as a cause of acute Bell's palsy. As the facial nerve swells and becomes inflamed in reaction to the infection, it causes pressure within the Fallopian canal, resulting in the restriction of blood and oxygen to the nerve cells. Other viruses and bacteria that have been linked to the development of Bell's palsy include HIV, sarcoidosis and Lyme disease. This new activation could be triggered by trauma, environmental factors, and metabolic or emotional disorders.

Familial inheritance has been found in 4–14% of cases. There may also be an association with migraines.

In December 2020, the U.S. FDA recommended that recipients of the Pfizer and Moderna COVID-19 vaccines should be monitored for symptoms of Bell's palsy after several cases were reported among clinical trial participants, though the data were not sufficient to determine a causal link.

Genetics
A meta-analysis of genome-wide association study (GWAS) identified the first unequivocal association with Bell's palsy.

Pathophysiology
Bell's palsy is the result of a malfunction of the facial nerve (cranial nerve VII), which controls the muscles of the face. Facial palsy is typified by inability to move the muscles of facial expression. The paralysis is of the infranuclear/lower motor neuron type.

It is thought that as a result of inflammation of the facial nerve, pressure is produced on the nerve where it exits the skull within its bony canal (the stylomastoid foramen), blocking the transmission of neural signals or damaging the nerve. Patients with facial palsy for which an underlying cause can be found are not considered to have Bell's palsy per se. Possible causes of facial paralysis include tumor, meningitis, stroke, diabetes mellitus, head trauma and inflammatory diseases of the cranial nerves (sarcoidosis, brucellosis, etc.). In these conditions, the neurologic findings are rarely restricted to the facial nerve. Babies can be born with facial palsy. In a few cases, bilateral facial palsy has been associated with acute HIV infection.

In some research, the herpes simplex virus type 1 (HSV-1) has been identified in a majority of cases diagnosed as Bell's palsy through endoneurial fluid sampling. Other research, however, identified, out of a total of 176 cases diagnosed as Bell's palsy, HSV-1 in 31 cases (18%) and herpes zoster in 45 cases (26%).

In addition, HSV-1 infection is associated with demyelination of nerves. This nerve damage mechanism is different from the above-mentioned—that edema, swelling and compression of the nerve in the narrow bone canal is responsible for nerve damage. Demyelination may not even be directly caused by the virus, but by an unknown immune response.

Diagnosis
Bell's palsy is a diagnosis of exclusion, meaning it is diagnosed by elimination of other reasonable possibilities. By definition, no specific cause can be determined. There are no routine lab or imaging tests required to make the diagnosis. The degree of nerve damage can be assessed using the House-Brackmann score.

One study found that 45% of patients are not referred to a specialist, which suggests that Bell's palsy is considered by physicians to be a straightforward diagnosis that is easy to manage.

Other conditions that can cause similar symptoms include herpes zoster, Lyme disease, sarcoidosis, stroke, and brain tumors.

Differential diagnosis
Once the facial paralysis sets in, many people may mistake it as a symptom of a stroke; however, there are a few subtle differences. A stroke will usually cause a few additional symptoms, such as numbness or weakness in the arms and legs. And unlike Bell's palsy, a stroke will usually let patients control the upper part of their faces. A person with a stroke will usually have some wrinkling of their forehead.

In areas where Lyme disease is common, it accounts for about 25% of cases of facial palsy. In the U.S., Lyme is most common in the New England and Mid-Atlantic states and parts of Wisconsin and Minnesota. The first sign of about 80% of Lyme infections, typically one or two weeks after a tick bite, is usually an expanding rash that may be accompanied by headaches, body aches, fatigue, or fever. In up to 10–15% of Lyme infections, facial palsy appears several weeks later, and may be the first sign of infection that is noticed as the Lyme rash typically does not itch and is not painful. The likelihood that the facial palsy is caused by Lyme disease should be estimated, based on recent history of outdoor activities in likely tick habitats during warmer months, recent history of rash or symptoms such as headache and fever, and whether the palsy affects both sides of the face (much more common in Lyme than in Bell's palsy). If that likelihood is more than negligible, a serological test for Lyme disease should be performed, and if it exceeds 10%, empiric therapy with antibiotics should be initiated, without corticosteroids, and reevaluated upon completion of laboratory tests for Lyme disease. Corticosteroids have been found to harm outcomes for facial palsy caused by Lyme disease.

One disease that may be difficult to exclude in the differential diagnosis is involvement of the facial nerve in infections with the herpes zoster virus. The major differences in this condition are the presence of small blisters, or vesicles, on the external ear, significant pain in the jaw, ear, face and/or neck and hearing disturbances, but these findings may occasionally be lacking (zoster sine herpete). Reactivation of existing herpes zoster infection leading to facial paralysis in a Bell's palsy type pattern is known as Ramsay Hunt syndrome type 2. The prognosis for Bell's palsy patients is generally much better than for Ramsay Hunt syndrome type 2 patients.

Treatment
Steroids have been shown to be effective at improving recovery in Bell's palsy while antivirals have not. In those who are unable to close their eyes, eye protective measures are required. Management during pregnancy is similar to management in the non-pregnant.

Steroids
Corticosteroids such as prednisone improve recovery at 6 months and are thus recommended. Early treatment (within 3 days after the onset) is necessary for benefit with a 14% greater probability of recovery. There is some debate regarding the optimal dosing strategy which is generally physician dependent.

Antivirals
One review found that antivirals (such as aciclovir) are ineffective in improving recovery from Bell's palsy beyond steroids alone in mild to moderate disease. Another review found a benefit when combined with corticosteroids but stated the evidence was not very good to support this conclusion.

In severe disease it is also unclear. One 2015 review found no effect regardless of severity. Another review found a small benefit when added to steroids.

They are commonly prescribed due to a theoretical link between Bell's palsy and the herpes simplex and varicella zoster virus. There is still the possibility that they might result in a benefit less than 7% as this has not been ruled out.

Eye protection
When Bell's palsy affects the blink reflex and stops the eye from closing completely, frequent use of tear-like eye drops or eye ointments is recommended during the day and protecting the eyes with patches or taping them shut is recommended for sleep and rest periods.

Physiotherapy
Physiotherapy can be beneficial to some individuals with Bell's palsy as it helps to maintain muscle tone of the affected facial muscles and stimulate the facial nerve. It is important that muscle re-education exercises and soft tissue techniques be implemented prior to recovery in order to help prevent permanent contractures of the paralyzed facial muscles. To reduce pain, heat can be applied to the affected side of the face. There is no high quality evidence to support the role of electrical stimulation for Bell's palsy.

Surgery
Surgery may be able to improve outcomes in facial nerve palsy that has not recovered. A number of different techniques exist. Smile surgery or smile reconstruction is a surgical procedure that may restore the smile for people with facial nerve paralysis. Adverse effects include hearing loss which occurs in 3–15% of people. A Cochrane review (updated in 2021), after reviewing applicable randomized and quasi-randomized controlled trials was unable to determine if early surgery is beneficial or harmful. As of 2007 the American Academy of Neurology did not recommend surgical decompression.

Alternative medicine
The efficacy of acupuncture remains unknown because the available studies are of low quality (poor primary study design or inadequate reporting practices). There is very tentative evidence for hyperbaric oxygen therapy in severe disease.

Prognosis
Most people with Bell's palsy start to regain normal facial function within three weeks—even those who do not receive treatment. In a 1982 study, when no treatment was available, of 1,011 patients, 85% showed first signs of recovery within three weeks after onset. For the other 15%, recovery occurred 3–6 months later.

After a follow-up of at least one year or until restoration, complete recovery had occurred in more than two-thirds (71%) of all patients. Recovery was judged moderate in 12% and poor in only 4% of patients. Another study found that incomplete palsies disappear entirely, nearly always in the course of one month. The patients who regain movement within the first two weeks nearly always remit entirely. When remission does not occur until the third week or later, a significantly greater part of the patients develop sequelae. A third study found a better prognosis for young patients, aged below 10 years old, while the patients over 61 years old presented a worse prognosis.

Major possible complications of the condition are chronic loss of taste (ageusia), chronic facial spasm, facial pain and corneal infections. Another complication can occur in case of incomplete or erroneous regeneration of the damaged facial nerve. The nerve can be thought of as a bundle of smaller individual nerve connections that branch out to their proper destinations. During regrowth, nerves are generally able to track the original path to the right destination—but some nerves may sidetrack leading to a condition known as synkinesis. For instance, regrowth of nerves controlling muscles attached to the eye may sidetrack and also regrow connections reaching the muscles of the mouth. In this way, movement of one also affects the other. For example, when the person closes the eye, the corner of the mouth lifts involuntarily.

Around 9% of people have some sort of ongoing problems after Bell's palsy, typically the synkinesis already discussed, or spasm, contracture, tinnitus or hearing loss during facial movement or crocodile-tear syndrome. This is also called gustatolacrimal reflex or Bogorad's syndrome and results in shedding tears while eating. This is thought to be due to faulty regeneration of the facial nerve, a branch of which controls the lacrimal and salivary glands. Gustatorial sweating can also occur.

Epidemiology
The number of new cases of Bell's palsy ranges from about one to four cases per 10,000 population per year. The rate increases with age. Bell's palsy affects about 40,000 people in the United States every year. It affects approximately 1 person in 65 during a lifetime.

A range of annual incidence rates have been reported in the literature: 15, 24, and 25–53 (all rates per 100,000 population per year). Bell's palsy is not a reportable disease, and there are no established registries for people with this diagnosis, which complicates precise estimation.

Frequency
About 40,000 people are affected by Bell's Palsy in the United States every year. It can affect anyone of any gender and age, but its incidence seems to be highest in those in the 15- to 45-year-old age group.

History

The Persian physician Muhammad ibn Zakariya al-Razi (865–925) detailed the first known description of peripheral and central facial palsy.

Cornelis Stalpart van der Wiel (1620–1702) in 1683 gave an account of Bell's palsy and credited the Persian physician Ibn Sina (980–1037) for describing this condition before him. James Douglas (1675–1742) and (1761–1836) also described it.

Scottish neurophysiologist Sir Charles Bell read his paper to the Royal Society of London on July 12, 1821, describing the role of the facial nerve. He became the first to detail the neuroanatomical basis of facial paralysis. Since then, idiopathic peripheral facial paralysis has been referred to as Bell's palsy, named after him.

A notable person with Bell's palsy is former Prime Minister of Canada Jean Chrétien. During the 1993 Canadian federal election, Chrétien's first as leader of the Liberal Party of Canada, the opposition Progressive Conservative Party of Canada ran an attack ad in which voice actors criticized him over images that seemed to highlight his abnormal facial expressions. The ad was interpreted as an attack on Chrétien's physical appearance and garnered widespread anger among the public, while Chrétien used the ad to make himself more sympathetic to voters. The ad had the adverse effect of increasing Chrétien's lead in the polls and the subsequent backlash clinched the election for the Liberals, which the party won in a landslide.

On April 25, 2024, Joel Hans Embiid of the Philadelphia 76ers scored 50 points in Game 3 of the 76ers' first round playoff series versus the New York Knicks while suffering from a mild case of Bell's Palsy.

title: Bell's palsy


text:
Obstetrics and gynaecology

Obstetrics and gynaecology (also spelled as obstetrics and gynecology; abbreviated as Obs and Gynae, O&G, OB-GYN and OB/GYN) is the medical specialty that encompasses the two subspecialties of obstetrics (covering pregnancy, childbirth, and the postpartum period) and gynaecology (covering the health of the female reproductive system – vagina, uterus, ovaries, and breasts). The specialization is an important part of care for women's health.

Postgraduate training programs for both fields are usually combined, preparing the practising obstetrician-gynecologist to be adept both at the care of female reproductive organs' health and at the management of pregnancy, although many doctors go on to develop subspecialty interests in one field or the other.

United States
According to the American Board of Obstetrics and Gynecology (ABOG), which is responsible for issuing OB-GYN certifications in the United States, the first step to OB-GYN certification is completing medical school to receive an MD or DO degree. From there doctors must complete a four-year OB-GYN residency program approved by the Accreditation Council for Graduate Medical Education (ACGME). For the 2021 Electronic Residency Application Service (ERAS) match, there were 277 OB-GYN residency programs accepting applicants.

In their fourth year of residency, with an affidavit from their director to confirm program completion, OB-GYN residents can choose whether to begin the board certification process by applying to take the ABOG Qualifying Exam, which is a written test. If residents pass the Qualifying Exam, demonstrating they possess the knowledge and skills to potentially become certified OB-GYNs, they are then eligible to sit for the oral Certification Exam. Prior to the Certification Exam, residents must also gather a list of patient cases they've worked on throughout their residency in order to demonstrate their competence and experience in OB-GYN patient care.

Residents then sit for the three-hour oral exam at ABOG's test center, and if they pass the exam they become "board certified" OB-GYNs. Since 2013 at least 82% of all Certifying Exam examinees have passed.

This adds up to 11–14 years of education and practical experience. The first 7–9 years are general medical training.

Experienced OB-GYN professionals can seek certifications in sub-specialty areas, including maternal and fetal medicine. See Fellowship (medicine).

United Kingdom
All doctors must first complete medical school and obtain a MBBS or equivalent certification. This portion typically takes five years. Following this, they are eligible for provisional registration with the General Medical Council. They then must complete a two years of foundation training. After the first year of training is complete, trainees are eligible for full registration with the General Medical Council. After the foundation training is complete applicants take the Part 1 MRCOG examination administered by the Royal College of Obstetricians and Gynaecologists. There are an additional seven years of training after this, and two more exams (Part 2 and Part 3 MRCOG exams) which adds up to nine years total minimum in training, although some trainees may take longer.

Subspecialties
Examples of subspecialty training available to physicians in the US are:

 * Maternal-fetal medicine: an obstetrical subspecialty, sometimes referred to as perinatology, that focuses on the medical and surgical management of high-risk pregnancies and surgery on the fetus with the goal of reducing morbidity and mortality.
 * Reproductive endocrinology and infertility: a subspecialty that focuses on the biological causes and interventional treatment of infertility
 * Gynecological oncology: a gynaecologic subspecialty focusing on the medical and surgical treatment of women with cancers of the reproductive organs
 * Female pelvic medicine and reconstructive surgery: a gynaecologic subspecialty focusing on the diagnosis and surgical treatment of women with urinary incontinence and prolapse of the pelvic organs. Sometimes referred to by laypersons as "female urology"
 * Advanced laparoscopic surgery
 * Family planning: a gynaecologic subspecialty offering training in contraception and pregnancy termination (abortion)
 * Pediatric and adolescent gynaecology
 * Menopausal and geriatric gynaecology

Of these, only the first four are truly recognized sub-specialties by the Accreditation Council for Graduate Medical Education (ACGME) and the American Board of Obstetrics and Gynecology (ABOG). The other subspecialties are recognized as informal concentrations of practice. To be recognized as a board-certified subspecialist by the American Board of Obstetrics and Gynecology or the American Osteopathic Board of Obstetrics and Gynecology, a practitioner must have completed an ACGME or AOA-accredited residency and obtained a Certificate of Added Qualifications (CAQ) which requires an additional standardized examination.

Additionally, physicians of other specialties may become trained in Advanced Life Support in Obstetrics (ALSO), a short certification that equips them to better manage emergent OB/GYN situations.

Common procedures
There are many procedures that can be provided to people by OB/GYNs. Some procedures may include:

 * Colposcopy: If the results of a cervical cancer screening test, such as Pap smear or HPV test, are abnormal this more thorough examination of the cervix and vaginal tissues may be needed.
 * Loop electrical excision procedure (LEEP): a procedure to quickly remove abnormal vaginal tissue within the cervix. A local anesthetic and a solution to enhance the points of removal visually is administered during the process. There is a chance of experiencing watery, pinkish discharge, brownish discharge, and mild cramping.
 * Endometrial biopsy: a procedure that collects a tissue sample from the endometrium lining of the uterus. The sample is tested and checked under a microscope for abnormals cells or indicators of cancer.
 * IUD insertion: an intrauterine device that is T-shaped and is placed in the uterus through the cervix. It is a reversible contraceptive that can be done in a doctor's office.
 * Nexplanon: is about a 4 cm implant that goes into the upper forearm. This implant releases birth control hormones into the body and can last up to three years. This type of birth control has a 99% success rate for pregnancy prevention.
 * Dilation and curettage (D&C): an out-patient procedure to open (dilate) the cervix to collect samples of endometrial tissue with a curette. A D&C can also be done to remove a fetus that was not passed naturally after a miscarriage or to induce an abortion.
 * Tubal ligation: a surgery to close the fallopian tubes for the prevention of pregnancy. It is also known as "tying the tubes".
 * Ovarian cystectomy: the removal of a cyst that either has a solid appearance, larger than three inches in diameter, has the possibility to become cancerous, or causes a constant pain. Cysts can be removed without removing an ovary. Women who do not take birth control produce small cysts every other month but they can disappear on their own.

title: Obstetrics and gynaecology


text:
Obstetrics

Obstetrics is the field of study concentrated on pregnancy, childbirth and the postpartum period. As a medical specialty, obstetrics is combined with gynecology under the discipline known as obstetrics and gynecology (OB/GYN), which is a surgical field.

Prenatal care
Prenatal care is important in screening for various complications of pregnancy. This includes routine office visits with physical exams and routine lab tests along with telehealth care for people with low-risk pregnancies:

First trimester
Routine tests in the first trimester of pregnancy generally include:
 * Complete blood count
 * Blood type
 * Rh-negative antenatal patients should receive RhoGAM at 28 weeks to prevent Rh disease.
 * Indirect Coombs test (AGT) to assess risk of hemolytic disease of the newborn
 * Rapid plasma reagin test to screen for syphilis
 * Rubella antibody screen
 * HBsAg test to screen for hepatitis B
 * Testing for chlamydia (and gonorrhea when indicated
 * Mantoux test for tuberculosis
 * Urinalysis and culture
 * HIV screen

Genetic screening for Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18), the national standard in the United States, is rapidly evolving away from the AFP-quad screen, done typically in the second trimester at 16–18 weeks. The newer integrated screen (formerly called F.A.S.T.E.R for First And Second Trimester Early Results) can be done at 10 plus weeks to 13 plus weeks with an ultrasound of the fetal neck (thicker nuchal skin correlates with higher risk of Down syndrome being present) and two chemicals (analytes), pregnancy-associated plasma protein A and human chorionic gonadotropin (pregnancy hormone level itself ). It gives an accurate risk profile very early. A second blood screen at 15 to 20 weeks refines the risk more accurately. The cost is higher than an "AFP-quad" screen due to the ultrasound and second blood test, but it is quoted to have a 93% pick up rate as opposed to 88% for the standard AFP/QS. This is an evolving standard of care in the United States.

Second trimester

 * MSAFP/quad. screen (four simultaneous blood tests) (maternal serum AFP, inhibin A, estriol, and βHCG) – elevations, low numbers or odd patterns correlate with neural tube defect risk and increased risks of trisomy 18 or trisomy 21
 * Ultrasound either abdominal or transvaginal to assess cervix, placenta, fluid and baby
 * Amniocentesis is the national standard for women over 35 or who reach 35 by mid pregnancy or who are at increased risk by family history or prior birth history.

Third trimester

 * Hematocrit (if low, the mother receives iron supplements)
 * Group B Streptococcus screen. If positive, the woman receives IV penicillin or ampicillin while in labor—or, if she is allergic to penicillin, an alternative therapy, such as IV clindamycin or IV vancomycin.
 * Glucose loading test (GLT) – screens for gestational diabetes; if > 140 mg/dL, a glucose tolerance test (GTT) is administered; a fasting glucose > 105 mg/dL suggests gestational diabetes.

Most doctors do a sugar load in a drink form of 50 grams of glucose in cola, lime or orange and draw blood an hour later (plus or minus 5 minutes). The standard modified criteria have been lowered to 135 since the late 1980s.

Fetal assessments
Obstetric ultrasonography is routinely used for dating the gestational age of a pregnancy from the size of the fetus, determine the number of fetuses and placentae, evaluate for an ectopic pregnancy and first trimester bleeding, the most accurate dating being in first trimester before the growth of the foetus has been significantly influenced by other factors. Ultrasound is also used for detecting congenital anomalies (or other foetal anomalies) and determining the biophysical profiles (BPP), which are generally easier to detect in the second trimester when the foetal structures are larger and more developed.

X-rays and computerized tomography (CT) are not used, especially in the first trimester, due to the ionizing radiation, which has teratogenic effects on the foetus. No effects of magnetic resonance imaging (MRI) on the foetus have been demonstrated, but this technique is too expensive for routine observation. Instead, obstetric ultrasonography is the imaging method of choice in the first trimester and throughout the pregnancy, because it emits no radiation, is portable, and allows for realtime imaging.

The safety of frequent ultrasound scanning has not been confirmed. Despite this, increasing numbers of women are choosing to have additional scans for no medical purpose, such as gender scans, 3D and 4D scans. A normal gestation would reveal a gestational sac, yolk sac, and fetal pole.

The gestational age can be assessed by evaluating the mean gestational sac diameter (MGD) before week 6, and the crown-rump length after week 6. Multiple gestation is evaluated by the number of placentae and amniotic sacs present.

Other tools used for assessment include:
 * Fetal screening is used to help assess the viability of the fetus, as well as congenital abnormalities.
 * Fetal karyotype can be used for the screening of genetic diseases. This can be obtained via amniocentesis or chorionic villus sampling (CVS )
 * Foetal haematocrit for the assessment of foetal anemia, Rh isoimmunization, or hydrops can be determined by percutaneous umbilical blood sampling (PUBS), which is done by placing a needle through the abdomen into the uterus and taking a portion of the umbilical cord.
 * Fetal lung maturity is associated with how much surfactant the fetus is producing. Reduced production of surfactant indicates decreased lung maturity and is a high risk factor for infant respiratory distress syndrome. Typically a lecithin:sphingomyelin ratio greater than 1.5 is associated with increased lung maturity.
 * Nonstress test (NST) for fetal heart rate
 * Oxytocin challenge test

Diseases in pregnancy
A pregnant woman may have a pre-existing disease, that may become worse or become a risk to the pregnancy, or to postnatal development of the offspring
 * Diabetes mellitus and pregnancy deals with the interactions of diabetes mellitus (not restricted to gestational diabetes) and pregnancy. Risks for the child include miscarriage, growth restriction, growth acceleration, foetal obesity (macrosomia), polyhydramnios and birth defects.
 * Lupus and pregnancy confers an increased rate of foetal death in utero and spontaneous abortion (miscarriage), as well as of neonatal lupus.
 * Thyroid disease in pregnancy can, if uncorrected, cause adverse effects on foetal and maternal well-being. The deleterious effects of thyroid dysfunction can also extend beyond pregnancy and delivery to affect neurointellectual development in the early life of the child. Demand for thyroid hormones is increased during pregnancy, and may cause a previously unnoticed thyroid disorder to worsen.
 * Hypercoagulability in pregnancy is the propensity of pregnant women to develop thrombosis (blood clots). Pregnancy itself is a factor of hypercoagulability (pregnancy-induced hypercoagulability), as a physiologically adaptive mechanism to prevent post partum bleeding. However, when combined with an additional underlying hypercoagulable states, the risk of thrombosis or embolism may become substantial.
 * Hyperemesis gravidarum in pregnancy occurs due to extreme, persistent nausea and vomiting during pregnancy. If untreated, can lead to dehydration, weight loss, and electrolyte imbalances. Most women develop nausea and vomiting during the first trimester. The cause of hyperemesis gravidarum is not known. However, it is believed to be caused by a rapidly rising blood level of a hormone, human chorionic gonadotropin (HCG), which is released by the placenta.
 * Preeclampsia is a condition that causes high blood pressure during pregnancy. If left untreated, it can be life-threatening. In pregnant women, preeclampsia may occur after 20 weeks of pregnancy, often in women who have no history of high blood pressure. Symptoms of preeclampsia may include severe headache, vision changes and pain under the ribs. However, in some women, symptoms may not occur, until they go for a routine prenatal visit.

Induction and labour
Induction is a method of artificially or prematurely stimulating labour in a woman. Reasons to induce can include pre-eclampsia, foetal distress, placental malfunction, intrauterine growth retardation and failure to progress through labour increasing the risk of infection and foetal distresses.

Induction may be achieved via several methods:
 * Disturbance of cervical membranes
 * Pessary of Prostin cream, prostaglandin E2
 * Intravaginal or oral administration of misoprostol
 * Cervical insertion of a 30-mL Foley catheter
 * Rupturing the amniotic membranes
 * Intravenous infusion of synthetic oxytocin (Pitocin or Syntocinon)

During labour, the obstetrician carries out the following tasks:
 * Monitor the progress of labour, by reviewing the nursing chart, performing vaginal examination, and assessing the trace produced by a foetal monitoring device (the cardiotocograph)
 * Provide pain relief, either by nitrous oxide, opiates, or by epidural anaesthesia done by anaesthestists, an anaesthesiologist, or a nurse anaesthetist.
 * Caesarean section, if there is an associated risk with vaginal delivery, as such foetal or maternal compromise.

Complications and emergencies
The main emergencies include:
 * Ectopic pregnancy is when an embryo implants in the uterine (fallopian) tube or (rarely) on the ovary or inside the peritoneal cavity. This may cause massive internal bleeding.
 * Pre-eclampsia is a disease defined by a combination of signs and symptoms that are related to maternal hypertension. The cause is unknown, and markers are being sought to predict its development from the earliest stages of pregnancy. Some unknown factors cause vascular damage in the endothelium, causing hypertension. If severe, it progresses to eclampsia, where seizures occur, which can be fatal. Preeclamptic patients with the HELLP syndrome show liver failure and disseminated intravascular coagulation (DIC). The only treatment is to deliver the foetus. Women may still develop pre-eclampsia following delivery.
 * Placental abruption is where the placenta detaches from the uterus and the woman and foetus can bleed to death if not managed appropriately.
 * Foetal distress where the foetus is getting compromised in the uterine environment.
 * Shoulder dystocia where one of the foetus' shoulders becomes stuck during vaginal birth. There are many risk factors, including macrosmic (large) foetus, but many are also unexplained.
 * Uterine rupture can occur during obstructed labour and endanger foetal and maternal life.
 * Prolapsed cord can only happen after the membranes have ruptured. The umbilical cord delivers before the presenting part of the foetus. If the foetus is not delivered within minutes, or the pressure taken off the cord, the foetus dies.
 * Obstetrical hemorrhage may be due to a number of factors such as placenta previa, uterine rupture or tears, uterine atony, retained placenta or placental fragments, or bleeding disorders.
 * Puerperal sepsis is an ascending infection of the genital tract. It may happen during or after labour. Signs to look out for include signs of infection (pyrexia or hypothermia, raised heart rate and respiratory rate, reduced blood pressure), and abdominal pain, offensive lochia (blood loss) increased lochia, clots, diarrhea and vomiting.

Postpartum period
The World Health Organization makes a distinction between the use of postpartum care when it concerns the care of the mother after giving birth, and postnatal care when the care of the newborn is concerned. Postpartum care is provided to the mother following childbirth.

A woman in the Western world who gives birth in a hospital may leave the hospital as soon as she is medically stable, and chooses to leave, which can be as early as a few hours later, but usually averages a stay of one or two days; the average postnatal stay following delivery by caesarean section is three to four days.

During this time the mother is monitored for bleeding, bowel and bladder function, and baby care. The infant's health is also monitored.

History

Prior to the 18th century, caring for pregnant women in Europe was confined exclusively to women, and rigorously excluded men. The expectant mother would invite close female friends and family members to her home to keep her company during childbirth. Skilled midwives managed all aspects of the labour and delivery. The presence of physicians and surgeons was very rare and only occurred if a serious complication had taken place and the midwife had exhausted all measures at her disposal. Calling a surgeon was very much a last resort and having men deliver women in this era was seen as offending female modesty.

Before the 18th century
Prior to the 18th and 19th centuries, midwifery was well established but obstetrics was not recognized as a specific medical specialty. However, the subject matter and interest in the female reproductive system and sexual practice can be traced back to Ancient Egypt and Ancient Greece. Soranus of Ephesus sometimes is called the most important figure in ancient gynecology. Living in the late first century AD and early second century, he studied anatomy and had opinions and techniques on abortion, contraception – most notably coitus interruptus – and birth complications. After his death, techniques and works of gynecology declined; very little of his works were recorded and survived to the late 18th century when gynecology and obstetrics reemerged as a medical specialism.

18th century
The 18th century marked the beginning of many advances in European midwifery, based on better knowledge of the physiology of pregnancy and labour. By the end of the century, medical professionals began to understand the anatomy of the uterus and the physiological changes that take place during labour. The introduction of forceps in childbirth also took place at this time. All these medical advances in obstetrics were a lever for the introduction of men into an arena previously managed and run by women – midwifery.

The addition of the male-midwife (or man-midwife) is historically a significant change to the profession of obstetrics. In the 18th century medical men began to train in area of childbirth and believed with their advanced knowledge in anatomy that childbirth could be improved. In France these male-midwives were referred to as accoucheurs, a title later used all over Europe. The founding of lying-in hospitals also contributed to the medicalization and male-dominance of obstetrics. These early maternity hospitals were establishments where women would come to have their babies delivered, as opposed to the practice since time immemorial of the midwife attending the home of the woman in labour. This institution provided male-midwives with endless patients to practice their techniques on and was a way for these men to demonstrate their knowledge.

Many midwives of the time bitterly opposed the involvement of men in childbirth. Some male practitioners also opposed the involvement of medical men like themselves in midwifery and even went as far as to say that male-midwives only undertook midwifery solely for perverse erotic satisfaction. The accoucheurs argued that their involvement in midwifery was to improve the process of childbirth. These men also believed that obstetrics would forge ahead and continue to strengthen.

19th century
18th-century physicians expected that obstetrics would continue to grow, but the opposite happened. Obstetrics entered a stage of stagnation in the 19th century, which lasted until about the 1880s. The central explanation for the lack of advancement during this time was the rejection of obstetrics by the medical community. The 19th century marked an era of medical reform in Europe and increased regulation over the profession. Major European institutions such as The College of Physicians and Surgeons considered delivering babies ungentlemanly work and refused to have anything to do with childbirth as a whole. Even when Medical Act 1858 was introduced, which stated that medical students could qualify as doctors, midwifery was entirely ignored. This made it nearly impossible to pursue an education in midwifery and also have the recognition of being a doctor or surgeon. Obstetrics was pushed to the side.

By the late 19th century, the foundation of modern-day obstetrics and midwifery began developing. Delivery of babies by doctors became popular and readily accepted, but midwives continued to play a role in childbirth. Midwifery also changed during this era due to increased regulation and the eventual need for midwives to become certified. Many European countries by the late 19th century were monitoring the training of midwives and issued certification based on competency. Midwives were no longer uneducated in the formal sense.

As midwifery began to develop, so did the profession of obstetrics near the end of the century. Childbirth was no longer unjustifiably despised by the medical community as it once had been at the beginning of the century. But obstetrics was underdeveloped compared to other medical specialities. Many male physicians would deliver children but very few would have referred to themselves as obstetricians. The end of the 19th century did mark a significant accomplishment in the profession with the advancements in asepsis and anaesthesia, which paved the way for the mainstream introduction and later success of the Caesarean section.

Before the 1880s mortality rates in lying-hospitals would reach unacceptably high levels and became an area of public concern. Much of these maternal deaths were due to puerperal fever, then known as childbed fever. In the 1800s Ignaz Semmelweis noticed that women giving birth at home had a much lower incidence of childbed fever than those giving birth by physicians in lying-hospitals. His investigation discovered that washing hands with an antiseptic solution before a delivery reduced childbed fever fatalities by 90%. So it was concluded that it was physicians who had been spreading disease from one labouring mother to the next. Despite the publication of this information, doctors still would not wash. It was not until the 20th century when advancements in aseptic technique and the understanding of disease would play a significant role in the decrease of maternal mortality rates among many populations.

History of obstetrics in America
The development of obstetrics as a practice for accredited doctors happened at the turn of the 18th century and thus was very differently developed in Europe and in the Americas due to the independence of many countries in the Americas from European powers. "Unlike in Europe and the British Isles, where midwifery laws were national, in America, midwifery laws were local and varied widely".

Gynaecology and Obstetrics gained attention in the American medical field at the end of the nineteenth century through the development of such procedures as the ovariotomy. These procedures then were shared with European surgeons who replicated the surgeries. This was a period when antiseptic, aseptic or anaesthetic measures were just being introduced to surgical and observational procedures and without these procedures surgeries were dangerous and often fatal. Following are two surgeons noted for their contributions to these fields include Ephraim McDowell and J. Marion Sims.

Ephraim McDowell developed a surgical practice in 1795 and performed the first ovariotomy in 1809 on a 47-year-old widow who then lived on for 31 more years. He had attempted to share this with John Bell whom he had practiced under who had retired to Italy. Bell was said to have died without seeing the document but it was published by an associate in Extractions of Diseased Ovaria in 1825. By the mid-century the surgery was both successfully and unsuccessfully being performed. Pennsylvanian surgeons the Attlee brothers made this procedure very routine for a total of 465 surgeries – John Attlee performed 64 successfully of 78 while his brother William reported 387 – between the years of 1843 and 1883. By the middle of the nineteenth century this procedure was successfully performed in Europe by English surgeons Sir Spencer Wells and Charles Clay as well as French surgeons Eugène Koeberlé, Auguste Nélaton and Jules Péan.

J. Marion Sims was the surgeon responsible for being the first treating a vesicovaginal fistula – a condition linked to many caused mainly by prolonged pressing of the foetus against the pelvis or other causes such as rape, hysterectomy, or other operations – and also having been doctor to many European royals and the 20th President of the United States James A. Garfield after he had been shot. Sims does have a controversial medical past. Under the beliefs at the time about pain and the prejudice towards African people, he had practiced his surgical skills and developed skills on slaves. These women were the first patients of modern gynecology. One of the women he operated on was named Anarcha Westcott, the woman he first treated for a fistula.

Historical role of gender
Women and men inhabited very different roles in natal care up to the 18th century. The role of a physician was exclusively held by men who went to university, an overly male institution, who would theorize anatomy and the process of reproduction based on theological teaching and philosophy. Many beliefs about the female body and menstruation in the 17th and 18th centuries were inaccurate; clearly resulting from the lack of literature about the practice. Many of the theories of what caused menstruation prevailed from Hippocratic philosophy. Midwives, meaning "with woman", were those who assisted in the birth and care of both born and unborn children, a position historically held mainly by women.

During the birth of a child, men were rarely present. Women from the neighbourhood or family would join in on the process of birth and assist in many different ways. The one position where men would help with the birth of a child would be in the sitting position, usually when performed on the side of a bed to support the mother.

Men were introduced into the field of obstetrics in the nineteenth century and resulted in a change of the focus of this profession. Gynaecology directly resulted as a new and separate field of study from obstetrics and focused on the curing of illness and indispositions of female sexual organs. This had some relevance to some conditions as menopause, uterine and cervical problems, and childbirth could leave the mother in need of extensive surgery to repair tissue. But, there was also a large blame of the uterus for completely unrelated conditions. This led to many social consequences of the nineteenth century.

title: Obstetrics