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1.
J Ethnopharmacol ; 230: 20-73, 2019 Feb 10.
Article in English | MEDLINE | ID: mdl-30355515

ABSTRACT

ETHNOPHARMACOLOGICAL RELEVANCE: The Sephardic or Judeo-Spanish communities kept a cultural heritage extremely relevant which is recognizable through the peculiar form of their language and practices. Medicine was one of the main professional activities among Jews of Spain before their expulsion in 1492. We expected to find ingredients and recipes in the Sephardic traditional medicine related to classical medicine and to modern ethnopharmacology of Spain, but also influenced by the host countries. Recipes for specific diseases could be compared with modern ethnopharmacology. Although the basic language of the recipes is Judeo-Spanish, it presents local variants and names which are not only dialectal Spanish, but also Turkish, Hebrew or Bosnian. METHODS: The main source of information for Sephardic folk medicine are the specimens of the "Livro de Milizinas" printed in Thessaloniki and Smyrna (Izmir) during the 19th century. Others are some documents on pharmacy conserved in Bosnia associated to the Papo family of Sephardic Aktars or Attars (Ottoman herbalists) and the oral tradition in the Sephardic communities of Asia, Europe and the Americas. In order to analyze these formularies, we have studied the recipes in eleven different sources systematized in an Excel® 2010 book. We focused on formulas that are not merely rituals instead contain specific ingredients and pathologies. Specific dictionaries were generated in Excel® 2010, to standardize names of ingredients and pathologies. RESULTS: In the 502 complete recipes and variants studied, 107 pathologies and 154 different ingredients appear. Among ingredients, 93 are plants, 38 animals and 23 mineral substances. The most common pathologies in the recipes correspond to infectious diseases, headache, epistaxis, parasites and the "espanto". These ingredients received 397 different vernacular names, being prevalent those in Spanish (303) followed by those in Turkish. Preparations recorded are simple, easily made at home, not requiring special tools or hardware. In studies dated 1845 in Bulgaria the forms of preparation and administration are similar. Topic preparations externally applied are prevalent in numbers doubling the oral administration on the contrary of modern ethnopharmacology studies in Thessaloniki where dominate internal uses over external ones. The books of medicines of Smyrna and Thessaloniki are very similar, if not almost identical. The "Livro de Milizinas" constitute a peculiar Sephardic text within the Ottoman style of medicine. The proximity in the analyses with Ottoman sources (Ottoman pharmacopoeias, Turkish Aktar shops and Medieval Cairo Jewish pharmacopoeia) is due to the high proportion of ingredients in common. After excluding animal and mineral ingredients of the analyses, modern ethnobotanical records from Greece and Turkey appear closer to the Sephardic main sources. The rest of Sephardic sources with notably smaller lists of ingredients represent fragments of mostly oral transmitted tradition and treat pathologies such as evil eye or "espanto". The recipes of the Sephardic of Bosnia comprise pathologies such as plague, cholera, typhus or gastroenteritis. Ingredients, largely of plant origin, to 93, are still in use in phytotherapy and/or local medical-pharmaceutical ethnobotany in Turkey or Greece. CONCLUSIONS: The Sephardic materia medica presented in the "Livro de Milizinas" is eclectic, adapted to an urban environment and to the prevalent pathologies of the second half of the 19th century, within the main cultural framework of the Ottoman Empire but with peculiarities characteristic of Sephardic Culture. These can be traced back to the period immediately after the expulsion of Sephardic from Spain. Their relationships with other modern sources are scarce, even in terms of pathologies.


Subject(s)
Ethnopharmacology/history , Jews/history , Phytotherapy/history , Animals , History, 19th Century , Humans , Spain
2.
Med Arch ; 71(5): 364-372, 2017 Oct.
Article in English | MEDLINE | ID: mdl-29284908

ABSTRACT

The time interval from the 9th to the 13th century remained known as the "Golden period of the Arab science", and a significant place among the taught sciences are occupied by Medicine and Pharmacy. In the history of medicine, Islamic medicine, also known as Arabic medicine, refers to the science of medicine developed in the Islamic Golden Age, and written in Arabic Arabs were able to use their cultural and natural resources and trade links to contribute to the strong development of pharmacy. After the collapse of the Arab rule, the Arab territorial expanses and cultural heritage were taken over by the Turks. Although scientific progress in the Turkish period slowed down due to numerous unfavorable political-economic and other circumstances, thanks to the Turks, Arab culture and useful Islamic principles expanded to the territory of our homeland of Bosnia and Herzegovina. Significant role in the transfer of Arabic medical and pharmaceutical knowledge was also attributed to the Sephardic Jews who, with their arrival, continued to perform their attar activities, which were largely based on Arab achievements. However, insufficiently elaborated, rich funds of oriental medical and pharmaceutical handwriting testify that Oriental science has nurtured in these areas as well, and that the Arab component in a specific way was intertwined with other cultures and traditions of Bosnia and Herzegovina.


Subject(s)
Delivery of Health Care/history , Famous Persons , History of Pharmacy , Medicine, Arabic/history , Books, Illustrated/history , Bosnia and Herzegovina , Culture , History, Medieval , Humans , Islam/history , Jews/history , Legislation, Pharmacy/history , Reference Books, Medical
3.
Rev Med Brux ; 37(1): 52-6, 2016.
Article in French | MEDLINE | ID: mdl-27120938

ABSTRACT

Medicine owes many to Hippocrate, but pneumology traces its origin back to antiquity, from Mesopotamia to ancient Rome. Regarding prehistory: if viscera of this period have not been kept, some bones were. Since Neanderthals, it is then possible to study osteoarticular pathologies (often chronic arthrosis). But no evidence of tuberculosis was found (all thoracic kyphosis are not tuberculosis). Tuberculosis probably appears during the Neolithic age, because of high concentration of population. In ancient times, pneumology was of course not a real medical specialty. However, respiratory illness already constituted a big part of antique medical practice. The purpose of the physician in antiquity was to establish a diagnosis, a prognostic and to propose a treatment. Prognostic revealed to be of great importance in ancient times, since therapeutic efficacy was limited. Contemporary physicians often neglect this part of their practice. In ancient times, physicians also tried to gradually eliminate magic-religious aspects in taking care of the patients. This review will propose a journey from Mesopotamia to ancient Egypt (and its medical papyrus). Very few sources are available concerning medicine in pre-Columbian cultures. However, it is well known that shamans had, besides their religious competences, a great pharmacopoeia. Because of these very few sources, this topic will not be added to this article. Little is known in Europa about chinese medicine before the Jesuit mission in China during the 17th and 18th centuries. Yet, chinese medicine grew in parallel with European's one. Some relevant elements of this medicine will hereafter be shown.


Subject(s)
Pulmonary Medicine/history , China , Egypt , History, Ancient , History, Medieval , Humans , Jews/history , Judaism/history , Medicine, Chinese Traditional/history , Mesopotamia
4.
Z Rheumatol ; 73(6): 571-8, 2014 Aug.
Article in German | MEDLINE | ID: mdl-24599355

ABSTRACT

The Jewish physician and scientist Dr. Max Hirsch (1875-1941) made a substantial contribution to consolidation of the foundations of his professional discipline, balneology, and in particular developed the social aspects. He recognized the economic significance of diseases of the musculoskeletal system very early on and gathered important ideas from abroad. Together with the department head in the Prussian Ministry of Education and Cultural Affairs, the Privy Councillor Prof. Dr. Eduard Dietrich and later alone, he was editor of various balneological journals. He worked as general secretary of the Deutsche Gesellschaft für Rheumatologie (German Society of Rheumatology) from the beginning of its existence (1927) and created the publication series Veröffentlichungen der Deutschen Gesellschaft für Rheumabekämpfung (Publications of the German Society against Rheumatism) and Rheuma-Jahrbuch (Annual review of rheumatology) in 1929, 1930 and 1931 and organized seven rheumatology congresses up to 1933. After the accession to power of the National Socialists, Max Hirsch and Eduard Dietrich were deposed from office. Hirsch emigrated to Latvia via Switzerland and the Soviet Union with his wife and one son where they were murdered in the course of the Jewish pogrom. The second son escaped with his family to Sweden.


Subject(s)
Balneology/history , Homicide/history , Jews/history , National Socialism/history , Periodicals as Topic/history , Prejudice/history , Rheumatology/history , Europe , Germany , History, 20th Century
5.
Vesalius ; 20(2): 89-94, 2014.
Article in English | MEDLINE | ID: mdl-25739154

ABSTRACT

Medical and halakhic literature in medieval and modern times teach us that healing by porcine produce was used quite extensively. Medical materials made of pig were mentioned in Jewish manuscripts in Christian and Islamic territories. We assume that, in fact, they were in wider usage in Europe, where the pig was common. Much of the permitted uses seem to involve external application and there was little ingestion orally unless there were compelling reasons. The Jewish medical literature mentions many treatments using pig products, such as: the fat for skin diseases, diaphoresis; bile for gynecologic problems; dung to stop bleeding in circumcision and drinking urine for kidney stones.


Subject(s)
Jews/history , Materia Medica/history , Swine , Africa, Northern , Animals , Europe , History, 15th Century , History, 16th Century , History, 17th Century , History, 18th Century , History, 19th Century , History, Ancient , History, Medieval , Humans , Judaism , Middle East
6.
Nat Commun ; 4: 2543, 2013.
Article in English | MEDLINE | ID: mdl-24104924

ABSTRACT

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variation, have ancestry in prehistoric Europe, rather than the Near East or Caucasus. Furthermore, most of the remaining minor founders share a similar deep European ancestry. Thus the great majority of Ashkenazi maternal lineages were not brought from the Levant, as commonly supposed, nor recruited in the Caucasus, as sometimes suggested, but assimilated within Europe. These results point to a significant role for the conversion of women in the formation of Ashkenazi communities, and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history.


Subject(s)
DNA, Mitochondrial , Founder Effect , Genealogy and Heraldry , Genome, Mitochondrial , Jews/genetics , Bayes Theorem , DNA, Mitochondrial/genetics , DNA, Mitochondrial/history , Europe , Female , Haplotypes , History, 15th Century , History, Ancient , History, Medieval , Humans , Inheritance Patterns , Jews/history , Male , Phylogeny , Phylogeography
7.
J Lesbian Stud ; 17(1): 7-24, 2013.
Article in English | MEDLINE | ID: mdl-23316838

ABSTRACT

Gertrude Stein was not only a fairly open lesbian but also Jewish, expatriate, and androgynous-all attributes that often retarded mass-market success. Why then was she so popular? The article offers original research highlighting how Stein was constructed as a kind of "opium queen" in the popular American press, and the ways that this decadent, bohemian celebrity persona allowed her to operate as "broadly queer" rather than "specifically gay" in the American cultural imaginary-a negotiation that accounts for the mass-market success rather than censure of The Autobiography of Alice B. Toklas despite the unparalleled visibility of its lesbian erotics.


Subject(s)
Homosexuality, Female/history , Jews/history , Life Style/history , Literature, Modern/history , Mass Media/history , Medicine in Literature , Opium/history , Religion and Psychology , Female , History, 19th Century , History, 20th Century , Humans , United States
8.
Hum Biol ; 85(6): 859-900, 2013 Dec.
Article in English | MEDLINE | ID: mdl-25079123

ABSTRACT

The origin and history of the Ashkenazi Jewish population have long been of great interest, and advances in high-throughput genetic analysis have recently provided a new approach for investigating these topics. We and others have argued on the basis of genome-wide data that the Ashkenazi Jewish population derives its ancestry from a combination of sources tracing to both Europe and the Middle East. It has been claimed, however, through a reanalysis of some of our data, that a large part of the ancestry of the Ashkenazi population originates with the Khazars, a Turkic-speaking group that lived to the north of the Caucasus region ~1,000 years ago. Because the Khazar population has left no obvious modern descendants that could enable a clear test for a contribution to Ashkenazi Jewish ancestry, the Khazar hypothesis has been difficult to examine using genetics. Furthermore, because only limited genetic data have been available from the Caucasus region, and because these data have been concentrated in populations that are genetically close to populations from the Middle East, the attribution of any signal of Ashkenazi-Caucasus genetic similarity to Khazar ancestry rather than shared ancestral Middle Eastern ancestry has been problematic. Here, through integration of genotypes from newly collected samples with data from several of our past studies, we have assembled the largest data set available to date for assessment of Ashkenazi Jewish genetic origins. This data set contains genome-wide single-nucleotide polymorphisms in 1,774 samples from 106 Jewish and non-Jewish populations that span the possible regions of potential Ashkenazi ancestry: Europe, the Middle East, and the region historically associated with the Khazar Khaganate. The data set includes 261 samples from 15 populations from the Caucasus region and the region directly to its north, samples that have not previously been included alongside Ashkenazi Jewish samples in genomic studies. Employing a variety of standard techniques for the analysis of population-genetic structure, we found that Ashkenazi Jews share the greatest genetic ancestry with other Jewish populations and, among non-Jewish populations, with groups from Europe and the Middle East. No particular similarity of Ashkenazi Jews to populations from the Caucasus is evident, particularly populations that most closely represent the Khazar region. Thus, analysis of Ashkenazi Jews together with a large sample from the region of the Khazar Khaganate corroborates the earlier results that Ashkenazi Jews derive their ancestry primarily from populations of the Middle East and Europe, that they possess considerable shared ancestry with other Jewish populations, and that there is no indication of a significant genetic contribution either from within or from north of the Caucasus region.


Subject(s)
Jews/genetics , Ancient Lands/ethnology , Europe/ethnology , Female , Genetics, Population/methods , Genome-Wide Association Study , History, Ancient , History, Medieval , Humans , Jews/history , Male , Middle East/ethnology , Polymorphism, Single Nucleotide/genetics
11.
Hum Biol ; 83(1): 39-53, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21453003

ABSTRACT

Increasing phylogenetic resolution of the Y chromosome haplogroup tree has led to finer temporal and spatial resolution for studies of human migration. Haplogroup T, initially known as K2 and defined by mutation M70, is found at variable frequencies across West Asia, Africa, and Europe. While several SNPs were recently discovered that extended the length of the branch leading to haplogroup T, only two SNPs are known to mark internal branches of haplogroup T. This low level of phylogenetic resolution has hindered studies of the origin and dispersal of this interesting haplogroup, which is found in Near Eastern non-Jewish populations, Jewish populations from several communities, and in the patrilineage of President Thomas Jefferson. Here we map 10 new SNPs that, together with the previously known SNPs, mark 11 lineages and two large subclades (T1a and T1b) of haplogroup T. We also report a new SNP that links haplogroups T and L within the major framework of Y chromosome evolution. Estimates of the timing of the branching events within haplogroup T, along with a comprehensive geographic survey of the major T subclades, suggest that this haplogroup began to diversify in the Near East -25 kya. Our survey also points to a complex history of dispersal of this rare and informative haplogroup within the Near East and from the Near East to Europe and sub-Saharan Africa. The presence of T1a2 chromosomes in Near Eastern Jewish and non-Jewish populations may reflect early exiles between the ancient lands of Israel and Babylon. The presence of different subclades of T chromosomes in Europe may be explained by both the spread of Neolithic farmers and the later dispersal of Jews from the Near East. Finally, the moderately high frequency (-18%) of T1b* chromosomes in the Lemba of southern Africa supports the hypothesis of a Near Eastern, but not necessarily a Jewish, origin for their paternal line.


Subject(s)
Chromosomes, Human, Y/genetics , Emigration and Immigration/statistics & numerical data , Genetics, Population , Haplotypes/genetics , Microsatellite Repeats/genetics , Africa , Bayes Theorem , Europe , Genotype , History, Ancient , Humans , Israel , Jews/genetics , Jews/history , Male , Middle East , Polymorphism, Single Nucleotide , Time
12.
Hist Sci Med ; 45(4): 315-20, 2011.
Article in French | MEDLINE | ID: mdl-22400470

ABSTRACT

The Essenes were a Jewish sect, which flourished around the first century. We have limited our study to hygienic and medical aspects, as documented in the works of Josephus Flavius, Philo of Alexandria, and Pliny the Elder; Josephus and Philo were personally in contact with these sectarian Jews. We have described the regimen of life of these communities, who lived in strictly organised fashion, their meals taken in common, their bathing in cold water, their clothing, the Sabbath rest, the lavatories, and more. Most Essenes remained single, they adopted however small children, and educated them in accordance to their principles. There was no private property, but old people and sick residents were taken care of by the community. The Essenes, as well as the Therapeuts described by Philo, were knowledgeable in medical lore, they treasured old books and studied the virtues of medicinal plants. There is no clear-cut consensus whether the Essenes, the Therapeuts, and the Qumran residents were one and the same sect, or whether they were similar sub-sects. The calm, strictly regulated and frugal way of life of the Essenes enabled them to attain old age, often beyond 100 years.


Subject(s)
Jews/history , Phytotherapy/history , History of Medicine , History, Ancient , Humans , Hygiene , Life Style , Oceans and Seas
13.
In. Botelho, João Bosco. História da medicina: da abstração à materialidade. Manaus, Valer, 2 ed., rev; 2011. p.243-260, ilus.
Monography in Portuguese | LILACS | ID: lil-600498

ABSTRACT

Aborda o novo horizonte proporcionado por Ribeiro Sanches, cristão-novo, com sólida formação cultural, que foi o resultado da comparação dos conhecimentos que ele adquiriu em universidades européias, inclusive a de Portugal. Era evidente o grande descompasso da Medicina portuguesa. Enquanto a Universidade de Paris, em plena Renascença, já começava a desvendar os mistérios da micrologia nos trabalhos de Marcelo Malpighi [1628-1694], trazendo a doença da macroestrutura para a microsstrutura do corpo, utilizando as lentes de aumento, a Universidade de Coimbra ainda resistia ao estudo da anatomia em obdiência à ordem do Concílio de Tours, de 1163, que proibiu o contato com sangue humano. Não existe dúvida quanto à importância dos judeus na formação de uma intelectualidade porutguesa, no século 16, particularmente do domínio médico. A maior parte desses curadores foi expulsa pela política segregacionista portuguesa, na primeira metade do século 16, outros se dirigiram ao Novo Mundo, contudo a perseguição política não ficou restrita às terras de Portugal. Ao contrário, os judeus fugidos dos rigores da intolerância de todos os matizes, nos reinos cristãos da Europa medieval, ajudaram a empurrar esses especialistas em direção à novas terras descobertas, ao Brasil inclusive. Além de médicos, cirurgiões e boticários, eles povoaram as cidades brasileiras como artífices, lavradores, soldados e criadores de gado, facilmente identificados como cristãos-novos.


Subject(s)
History, 16th Century , Barber Surgeons/history , Education, Medical/history , Schools, Medical/history , History of Medicine , Jews/history , Medicine, Traditional/history , Religion and Medicine , Brazil , Portugal
14.
In. Botelho, João Bosco. História da Medicina: da abstração à materialidade. Manaus, Valer, 2 ed., rev; 2011. p.243-260, ilus.
Monography in Portuguese | HISA | ID: his-22492

ABSTRACT

Aborda o novo horizonte proporcionado por Ribeiro Sanches, cristão-novo, com sólida formação cultural, que foi o resultado da comparação dos conhecimentos que ele adquiriu em universidades européias, inclusive a de Portugal. Era evidente o grande descompasso da Medicina portuguesa. Enquanto a Universidade de Paris, em plena Renascença, já começava a desvendar os mistérios da micrologia nos trabalhos de Marcelo Malpighi [1628-1694], trazendo a doença da macroestrutura para a microsstrutura do corpo, utilizando as lentes de aumento, a Universidade de Coimbra ainda resistia ao estudo da anatomia em obdiência à ordem do Concílio de Tours, de 1163, que proibiu o contato com sangue humano. Não existe dúvida quanto à importância dos judeus na formação de uma intelectualidade porutguesa, no século 16, particularmente do domínio médico. A maior parte desses curadores foi expulsa pela política segregacionista portuguesa, na primeira metade do século 16, outros se dirigiram ao Novo Mundo, contudo a perseguição política não ficou restrita às terras de Portugal. Ao contrário, os judeus fugidos dos rigores da intolerância de todos os matizes, nos reinos cristãos da Europa medieval, ajudaram a empurrar esses especialistas em direção à novas terras descobertas, ao Brasil inclusive. Além de médicos, cirurgiões e boticários, eles povoaram as cidades brasileiras como artífices, lavradores, soldados e criadores de gado, facilmente identificados como cristãos-novos. (AU)


Subject(s)
History, 16th Century , History of Medicine , Medicine, Traditional/history , Religion and Medicine , Education, Medical/history , Schools, Medical/history , Barber Surgeons/history , Jews/history , Brazil , Portugal
16.
Isr J Psychiatry Relat Sci ; 45(4): 257-62, 2008.
Article in English | MEDLINE | ID: mdl-19439831

ABSTRACT

BACKGROUND: Johannes Heinrich Schultz (1884-1970) established the set of techniques known as "autogenic training." From 1936 until 1945 he worked as assistant director of the Göring Institute. His role during National Socialism has been underestimated in our opinion. METHOD: We considered Schultz's academic publications and his "autobiography" from 1964. RESULTS: Schultz publicly advocated compulsory sterilization as well as the "annihilation of life unworthy of life" and developed a diagnostic scheme which distinguished between the neurotic/curable and the hereditary/ incurable. In fact, this classification was then employed to decide between life and death. In order to justify the "New German Psychotherapy" alongside eugenic psychiatry, Schultz carried out degrading and inhuman "treatments" of homosexual prisoners of concentration camps who were in mortal danger. LIMITATIONS: This study was based on written documents. We were not able to interview contemporary witnesses. CONCLUSION: By advocating compulsory sterilization and the "annihilation of life unworthy of life" and by the abuse of homosexuals as research objects Schultz violated fundamental ethical principles of psychiatry.


Subject(s)
Autogenic Training/history , Concentration Camps/history , Eugenics/history , Holocaust/history , Homosexuality, Male/history , Human Experimentation/history , Jews/history , National Socialism/history , Psychotherapy/history , Sterilization, Involuntary/history , Germany , History, 19th Century , History, 20th Century , Humans , Male
17.
Psychoanal Hist ; 8(2): 235-53, 2006.
Article in English | MEDLINE | ID: mdl-19777688

ABSTRACT

Situating psychoanalysis in the context of Jewish history, this paper takes up Freud's famous 1930 question: what is left in Judaism after one has abandoned faith in God, the Hebrew language and nationalism, and his answer: a great deal, perhaps the very essence, but an essence that we do not know. On the one hand, it argues that "not knowing" connects psychoanalysis to Judaism's ancestral preoccupation with God, a preoccupation different from that of the more philosophical Greek, Latin and Christian traditions of theology. On the other hand, "not knowing" connects psychoanalysis to a post-Enlightenment conception of the person (i.e. of personal life), as opposed to the more abstract notion of the subject associated with Kant.


Subject(s)
Individuality , Jews , Prejudice , Psychoanalysis , Psychoanalytic Theory , Religion and Psychology , Social Change , Social Identification , Cultural Diversity , Ethnicity/education , Ethnicity/ethnology , Ethnicity/history , Ethnicity/legislation & jurisprudence , Ethnicity/psychology , Europe/ethnology , Europe, Eastern/ethnology , Freudian Theory/history , History, 19th Century , History, 20th Century , History, Ancient , History, Medieval , Humans , Jews/education , Jews/ethnology , Jews/history , Jews/legislation & jurisprudence , Jews/psychology , Judaism/history , Judaism/psychology , Professional Role/history , Professional Role/psychology , Psychoanalysis/education , Psychoanalysis/history , Social Change/history , Theology/education , Theology/history
18.
Vesalius ; 11(2): 81-7, 2005 Dec.
Article in English | MEDLINE | ID: mdl-17153286

ABSTRACT

During the Mamluk and Ottoman periods, the monks of the Franciscan Order were the only representatives of the Catholic Church in Jerusalem and they provided medical treatment for Christians. This article looks at the activities of the Franciscans, in particular in their pharmacy, which was associated with the production of Jerusalem balsam, famous both in the East and in Europe. It compares these activities with those of Jewish physicians in Jerusalem and looks at the relationships between the two groups and their effects on medical development in the Levant.


Subject(s)
Catholicism/history , Hospitals, Religious/history , Jews/history , Materia Medica/history , Medicine, Arabic/history , Ancient Lands , History of Pharmacy , History, 18th Century , History, 19th Century , Israel
19.
Arch Intern Med ; 164(8): 833-9; discussion 839, 2004 Apr 26.
Article in English | MEDLINE | ID: mdl-15111368

ABSTRACT

A 69-year-old Judean man presents with chronic low-grade fever, pedal edema, and abdominal pain. His condition deteriorates over several weeks with the appearance of shortness and foulness of breath, pruritus, convulsions of every limb, and gangrene of the genitalia. Just before he dies, he orders dozens of the leading men of his kingdom imprisoned and instructs his sister to kill them all after he is gone. Who is he and what is the likely cause of his death?


Subject(s)
Famous Persons , Fournier Gangrene/history , Kidney Failure, Chronic/history , Fournier Gangrene/diagnosis , History, Ancient , Humans , Israel , Jews/history , Kidney Failure, Chronic/diagnosis , Male
20.
Hum Genet ; 114(4): 366-76, 2004 Mar.
Article in English | MEDLINE | ID: mdl-14727180

ABSTRACT

The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175-D15S131:240-D15S1050:284-D15S197:144-D15S188:418) was identified in 1278insTATC chromosomes from 55 unrelated AJ individuals (15 homozygotes and 40 heterozygotes for the TSD mutation), suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the insertion was found to be 40+/-12 generations (95% confidence interval: 30-50 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 8th-9th century. This corresponds with the demographic expansion of AJs in central Europe, following the founding of the Ashkenaz settlement in the early Middle Ages. The results are consistent with the geographic distribution of the main TSD mutation, 1278insTATC being more common in central Europe, and with the coalescent times of mutations causing two other LSDs, Gaucher disease and mucolipidosis type IV. Evidence for the absence of a determinant positive selection (heterozygote advantage) over the mutation is provided by a comparison between the estimated age of 1278insTATC and the probability of the current AJ frequency of the mutant allele as a function of its age, calculated by use of a branching-process model. Therefore, the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in AJ individuals.


Subject(s)
Jews/genetics , Models, Genetic , Mutation , Tay-Sachs Disease/enzymology , Tay-Sachs Disease/genetics , beta-N-Acetylhexosaminidases/genetics , Alleles , Chromosomes, Human, Pair 15/genetics , Europe , Female , Founder Effect , Genetic Drift , Genetics, Population , Haplotypes , Hexosaminidase A , History, Ancient , History, Medieval , Humans , Jews/history , Linkage Disequilibrium , Male , Selection, Genetic , Tay-Sachs Disease/history , beta-N-Acetylhexosaminidases/deficiency
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