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1

SORENE, E. D., E. RUBINRAUT-OPHIR, and D. R. GOODWIN. "Dupuytren’s Disease in Oriental Jews." Journal of Hand Surgery (European Volume) 32, no. 5 (October 2007): 543–46. http://dx.doi.org/10.1016/j.jhse.2007.04.014.

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Twelve month minimum follow-up was available for 19 Oriental Jewish patients who underwent surgery for Dupuytren’s disease over a 10-year period. In this population, the disease is uncommon. The initial deformity, operative findings and results of surgery were similar to those described for North European Caucasian patients. Possible factors that may result in a low genetic predisposition to Dupuytren’s disease amongst Jews are discussed.
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2

Murzakhanov, Yuriy I. "ON THE QUESTION OF ETHNO-LINGUISTIC CONTACTS OF MOUNTAIN JEWS WITH THE PEOPLES OF THE NORTH CAUCASUS (BASED ON ANTHROPONYMIC MATERIALS)." History, Archeology and Ethnography of the Caucasus 17, no. 1 (March 28, 2021): 250–60. http://dx.doi.org/10.32653/ch171250-260.

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The purpose of our research is to study the specifics of ethnolanguage contacts between mountain Jews and the peoples of the North Caucasus, which allows us to trace the ethnocultural Parallels that existed in the past between them. As you know, language is an important historical source, and since language communication involves interaction between members of an ethnic group, ethnographic group, or subethnos, it can be stated that each language is characterized by the totality of all forms of its existence: a spoken language with its division into territorial dialects, a literary language in oral and written varieties, a special cult language, etc. Accordingly, studies on the language contacts of mountain Jews with the peoples of the North Caucasus (of course, structurally diverse and genetically unrelated peoples) are of great value from the point of view of not only linguistics, but also history and Ethnography. The study of the anthroponic Fund of the North Caucasian mountain Jews is also of great interest in this regard. Anthroponymy, due to its special functional nature, is subject to rapid changes, and its composition is heterogeneous. The mountain Jews of the North Caucasus attached special importance to the naming ceremony. In the second half of the XIX – early XX century, the anthroponymicon of mountain Jews was dominated by Jewish names, but in addition to them, there was also a significant layer of names of Persian and Turkic origin, as well as names that arose on the mountain-Jewish soil proper. During the Soviet period, borrowed names (of Latin, Greek, and Slavic origin) became the predominant foreign-language names among the mountain Jews of the North Caucasus, which is typical for almost all the Caucasian peoples of the Caucasus.
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3

Vikhnovich, Vsevolod. "Jews of the land of Kedar." Nordisk Judaistik/Scandinavian Jewish Studies 18, no. 1-2 (September 1, 1997): 125–29. http://dx.doi.org/10.30752/nj.69544.

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At present, it is safe to say that alongside the Slavic, Finnish, Scandinavian, Turkic, Baltic, Iranian, Caucasian elements the Jewish element has also played its role in the early period of the ethnocultural history of the vast region to the north of the Black and the Caspian seas. According to the medieval Jewish sources, the members of Judaic communities belonged to various social and even racial groups. This fact sheds light on the Jews whom the Jewish traveler Petahyah of Regensburg met in the Land of Kedar in the 12th century. Petahyah traveled from Regensburg to the Middle East via Prague, Kiev, Crimea and Caucasus. What were the origins of these Jews?
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4

Ezri, Tiberiu, Daniel Sessler, Marian Weisenberg, Gleb Muzikant, Michael Protianov, Edward Mascha, and Shmuel Evron. "Association of Ethnicity with the Minimum Alveolar Concentration of Sevoflurane." Anesthesiology 107, no. 1 (July 1, 2007): 9–14. http://dx.doi.org/10.1097/01.anes.0000267534.31668.62.

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Abstract Background: Selective breeding produces animal strains with varying anesthetic sensitivity. It thus seems unlikely that various human ethnicities have identical anesthetic requirements. Therefore, the authors tested the hypothesis that the minimum alveolar concentration of sevoflurane differs significantly as a function of ethnicity. Methods: The authors recruited 90 American Society of Anesthesiologists physical status I and II adult patients belonging to three Jewish ethnic groups: European, Oriental, and Caucasian (from the Caucasus Mountain region). All were scheduled to undergo surgery requiring a skin incision exceeding 3 cm. Without premedication, anesthesia was induced with 6–8% sevoflurane in 100% oxygen, and tracheal intubation was facilitated with succinylcholine. The skin incision was made after a predetermined end-tidal concentration of sevoflurane of 2.0% was maintained for at least 10 min in the first patient in each group. Blinded investigators observed the patient for movement during the subsequent minute. The concentration in the next patient was increased by 0.2% when patients moved, or decreased by the same amount when they did not. Results are presented as means [95% confidence intervals]. Results: Morphometric and demographic characteristics were similar among the groups; however, mean arterial pressure was slightly greater in European Jews. Minimum alveolar concentration for sevoflurane was greatest in Caucasian Jews (2.32% [2.27–2.41%]), less in Oriental Jews (2.14% [2.06–2.22%]), and still less in European Jews (1.9% [1.82–1.99%]) (P < 0.001). Conclusions: The results suggest that minimum alveolar concentration varies as a function of ethnicity. However, the extent to which confounding characteristics contribute, including lifestyle choices and environmental factors, remains unknown.
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5

Kedmi, Meirav, Sara B. Cohen, and Deborah Rund. "Polymorphisms in Drug Metabolism/Disposition Genes and Increased Susceptibility to Adult De Novo AML: MDR1 and CYP3A4." Blood 104, no. 11 (November 16, 2004): 2078. http://dx.doi.org/10.1182/blood.v104.11.2078.2078.

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Abstract Primary AML may be induced by environmental toxins in the same way as chemotherapy-induced genotoxic damage leads to therapy-related AML (t-AML). The genotypes of MDR1 and CYP3A4 genes may be important in predisposing to both primary and t-AML. Hoffmeyer et al (PNAS, 2000) found that a silent single nucleotide polymorphism, C3435T was associated with higher plasma concentrations of digoxin after oral dosing. The T allele increases effective exposure to toxins, and may predispose to renal tumors. We previously reported (ASH 2002) an association of t-AML with C3435T in a small sample (17 pts). The cytochrome P450 (CYP) enzymes including CYP3A4 metabolize drugs and toxins, and can activate procarcinogens. Some studies found that an A to G substitution in the CYP3A4 promoter (CYP3A4*1B) “protects” against t-AML, while the wild type allele was associated with t-AML (including our study, ASH 2002). Aims: To determine if either the MDR1 or CYP3A4 polymorphism affects predisposition to develop primary AML, and to determine ethnic differences in the frequency of the polymorphisms. Methods: The MDR1 C3435T polymorphism was analyzed using PCR and Sau3A1 digestion. CYP3A*1B was studied using PCR and hybridization to a wild type or mutant 19-mer oligonucleotide probe. We studied primary and t-AML patients (68 Jewish and 43 Arab for C3435T, and 81 Jewish and 37 Arab for CYP3A1*1B), and control DNA samples of the same ethnic origin (58 Caucasian Jewish and 44 Arab and 88 Ethiopian Jews). Results: The TT genotype at position 3435 of MDR1 was found more frequently in AML patients (both primary and t-AML) than in controls (p value: 0.0302). There was an additive effect of the T allele, with fewest AML patients having the CC genotype, more with CT and the most with the TT genotype (P value: 0.0015). The relative risk of primary AML is 0.5975 (C.I- (0.3135, 1.1389) for patients with the CC genotype versus those with CT/TT. The relative risk of t-leuk is 0.1180 (C.I- (0.0073 1.8952) for patients with the CC genotype versus those with CT/TT. Of 23 t-AML patients analyzed, none had the CC genotype. Because the allele may affect response to therapy, we analyzed survival. Using Kaplan-Meier analysis, we found no statistically significant difference in the survival of AML patients of different MDR1 C3435T genotypes. Among controls, there was a statistically significant difference in the frequency of the different genotypes among Arabs, Caucasian Jews and Ethiopian Jews. Arab individuals had a lower frequency of the CC genotype and more frequent TT, Ethiopian Jews had a high frequency of the CC genotype (p value: 0.0072). Among AML patients of different ethnicity, there was no difference in genotype. The CYP3A*1B polymorphism was found in approximately 15% of the Israeli population (Caucasian Jews and Arabs alike). In comparison, 52% of Ethiopian Jews carried CYP3A*1B. 9/118 primary AML patients (7%) carried CYP3A*1B and only 1 (2.4%) of 41 t-AML patients was found to carry CYP3A4*1B (p value < 0.05). Conclusions: The MDR1 C3435T polymorphism is associated with a higher risk of developing primary as well as t-AML. Arabs may be at higher risk for AML due to a high frequency of the T allele. In addition, the CYP3A4*1B polymorphism might be protective against primary AML, and we confirm previous reports that it may protect against t-AML in adults. Lastly, Ethiopian Jews have a high frequency of the C allele of the MDR1 C3435T polymorphism, and high frequency of CYP3A4*1B, which may underlie the relatively low incidence of AML in this ethnic group in Israel.
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6

Malik, Elad, Sara B. Cohen, and Deborah Rund. "The NAD(P)H:Quinone Oxidoreductase (NQO1) C609T Polymorphism Is Found at Variable Frequency in Different Ethnic Groups but Does Not Predispose to De Novo AML in Israel." Blood 104, no. 11 (November 16, 2004): 4381. http://dx.doi.org/10.1182/blood.v104.11.4381.4381.

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Abstract Background: The NQO1 gene is located on chromosome 16q22.1. This gene encodes a cytosolic enzyme which is expressed in many tissues including the hematopoietic system. NQO1 has an important role in detoxifying quinones, which are widespread compounds that are present thoughout the body (vitamin K), the diet (proteins, fruits and vegetables) and the environment (solvents, cosmetics, cigarette smoke). A single nucleotide polymorphism (C to T) at position 609 (NQO1*2) produces a proline to serine substitution at codon 187 and results in very reduced enzyme activity (null allele). Wild type genotype individuals have normal NQO1 activity, heterozygotes have reduced activity and homozygotes for the mutation have nearly absent activity. The polymorphism is present at varying frequencies in different ethnic groups throughout the world. Several reports have shown an association of this polymorphism and susceptibility to nonhematological malignancies such as lung cancer in smokers. Other reports have found that it is associated with de novo adult AML, therapy-related AML, infant leukemia with MLL rearrangements and benzene-induced hematotoxicity/leukemia. Aims: To determine the frequency of the NQO1*2 allele in Israeli ethnic groups and to determine if the allele predisposes to de novo adult AML in Israeli patients. Methods: We used PCR to analyze for the presence of the NQO1*2 allele, utilizing the methodology of MT Smith (Blood 2001) with nested PCR and digestion with Hinf1. We studied adult AML patients of different ethnic origins (156 Jews and 106 Arabs) and normal controls of three major ethnic groups in Israel (270 Caucasian Jews, 250 Arabs and 168 Ethiopian Jews). Too few Ethiopian adult AML patients were identified to be included in the analysis. Results: In the control Arab group, the distribution of the alleles was: homozygous normal (CC) 54%, heterozygotes (CT) 38.5%, and homozygous mutant (TT) 7.5%, which was virtually identical to the distribution in Arab AML patients (CC 52.8%, CT 41.5% and TT 5.7%). Similarly, the distribution in Caucasian Jewish controls was: CC 60.8%, CT 37.2%, and TT 2%, virtually identical to CC 61.1%, CT 35% and TT 3.9% in Caucasian AML patients. Ethiopian controls had a very different allelic distribution: CC 72.6%, CT 26.2% and TT 1.1 %. While the differences among the various ethnic groups was highly statistically significant, there were no statistically significant differences in allelic frequencies of patients as compared to ethnic matched controls. Conclusions: In Israel there are significant differences in allelic distribution of NQO1 among various ethnic groups. However, the null allele was not present at a higher frequency in patients, suggesting that the null allele did not predispose to the development of de novo adult AML in Israel. The reason for the discrepancy between our data and other published studies may relate to underlying genetic differences in our population, for example, in CYP2E1, which participates in the same metabolic pathways as NQO1. Alternatively, it is possible that NQO1 protects against de novo AML only under specific environmental conditions, which may not exist in Israel. Our findings emphasize the importance of cross-cultural validation of pharmacogenetic studies, in order to assure the reliability of the findings.
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7

Burkholder, Zoë. "From “Wops and Dagoes and Hunkies” to “Caucasian”: Changing Racial Discourse in American Classrooms during World War II." History of Education Quarterly 50, no. 3 (August 2010): 324–58. http://dx.doi.org/10.1111/j.1748-5959.2010.00274.x.

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Margaret Gillum was distressed. Her sophomore English students in Terre Haute, IN were making “sneering remarks” about “dirty foreigners,” even though she implored them to use language that reflected the principles of “brotherhood” and “true neighborliness.” Pressed into action by the catastrophic world war unfolding around her, Gillum decided to teach her students to be more tolerant of human diversity. Describing her successful lesson to colleagues in a popular teaching journal in 1941, Gillum explained, “There are in my city a number of racial groups gathered into neighborhoods, as one finds them everywhere: Syrians, Italians, French, and a large number of Germans and Jews, as well as three distinct communities of Negroes drifted up from the South.” Hoping to foster empathy for the “racial groups” in her community, Gillum initiated her lesson by asking students to list familiar racial epithets. Her students responded enthusiastically and as Gillum called out the names of different “races” her students shouted back their answers:And what do we call Italians—Dagoes!And the Germans?—Dutchmen!The Irish?—Oh, Pat or Mike!
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8

Sternfeld, Lior. "Jewish-Iranian Identities in the Pahlavi Era." International Journal of Middle East Studies 46, no. 3 (July 18, 2014): 602–5. http://dx.doi.org/10.1017/s002074381400066x.

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A few years ago, while conducting archival research on Pahlavi-era Iranian newspapers, I came across a photo from the anti-shah demonstrations that took place in late 1978 and early 1979. It showed a large group of Armenians protesting against the shah. In these years many Iranians and Westerners considered the shah's policies beneficial for religious minorities in Iran. Around the same time, I found a sentence that made this discovery more intriguing. In his seminal workIran between Two Revolutions, Ervand Abrahamian mentions that throughout the Muhammad Riza Pahlavi era, the opposition to the communist Tudeh party accused it of being controlled by “Armenians, Jews, and Caucasian émigrés.” I tried to find references in the current scholarship to Jews participating in the party, which could have earned them their part in this propaganda campaign, but found very little. Having read the important works of Joel Beinin, Orit Bashkin, and Rami Ginat on Jewish revolutionaries, including communists, in the Middle East, I wondered where the Jewish radicals in Iran were. Several factors may contribute to this silence in the historiography: the writing of Iranian history from a Zionist vantage point, a lack of interest in the history of the Iranian left in the postrevolutionary historiography, and an inability to conceptualize the transregional and global nature of the Iranian Jewish community.
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9

Ehrlich, Gal, Dalia Ginzberg, Yael Loewenstein, David Glick, Batsheva Kerem, Shlomi Ben-Ari, Haim Zakut, and Hermona Soreq. "Population Diversity and Distinct Haplotype Frequencies Associated with ACHE and BCHE Genes of Israeli Jews from Trans-caucasian Georgia and from Europe." Genomics 22, no. 2 (July 1994): 288–95. http://dx.doi.org/10.1006/geno.1994.1386.

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10

Beginina, I. A., S. G. Ivchenkov, M. S. Ivchenkova, and N. V. Shakhmatova. "The level of ethnic-confessional tolerance in the Saratov Region." RUDN Journal of Sociology 19, no. 4 (December 15, 2019): 722–36. http://dx.doi.org/10.22363/2313-2272-2019-19-4-722-736.

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Ethnic-confessional relationships in multiethnic regions are dynamic and influenced by globalization and the growth of horizontal mobility, and also by everyday practices. All these factors structure the public opinion in a certain way and determine the degree of tolerance of the regions and Russia as a whole. The article aims at assessing the level of ethnic-confessional tolerance in the multiethnic Saratov Region. The article presents the results of the sociological survey conducted in March 2018 in the city of Saratov and eleven districts of the Saratov Region. According to the survey’s results, the degree of acceptance of a person of a different nationality is inversely proportional to the size of social distance. The level of the religious tolerance is also high, but does not correlate with the size of social distance. According to the data, the vast majority of respondents did not encounter violations of national or religious rights, and among those who actually experienced national discrimination (personally or in close social circle) it was expressed in the form of ignoring, insulting, difficulties when looking for employment, threats and physical abuse. In general, the low prevalence of direct forms of negative ethnic-religious attitudes proves the high level of tolerance in the Saratov Region. Interethnic relations of the Saratovites with representatives of the Caucasian peoples are more prone to conflicts than with representatives of peoples traditionally settled in the region (Ukrainians, Tatars, Kazakhs, Jews, Bashkirs, Volga Germans). Despite the prevailing positive assessments of the national policy, it still needs to take into account the features of the Saratov Region.
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Kluge, Pascal. "Turkish Views on Christians: Implications for Armenian-Turkish Relations." Iran and the Caucasus 12, no. 2 (2008): 363–76. http://dx.doi.org/10.1163/157338408x406119.

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AbstractSamuel Huntington argues in The Clash of Civilizations that a principal cultural fault line is to be found between the Muslim world and the Western non-Muslim world. In this context it is not surprising that the Christian West often assumes Muslims to be suspicious or even hostile towards Christians. Periodic cases of anti-Christian public statements and actions support this impression and are indicative of profound inter-religious tensions. This notion also influences the relations between peoples and nations. In the South-Caucasian case, the Armenian-Turkish relations are affected most by this phenomenon. When conflicts arise, religion plays a role in the perception of the Other. What is needed, therefore, is more inter-religious understanding on all societal levels. Although politics play a key role in establishing friendly ties between nations, it is the grassroots of the population upon which fruitful relations stand and which secure a more consistent quality to the results of political efforts. When considering Turkish views on Christians, field research indicates that the average Turk harbours an overall benevolent view of Christians and, therefore, that there exists considerable potential for successful inter-religious dialogue. Christians are generally regarded with respect, and most Turkish participants showed little to no negative attitudes towards them. The Christians of Turkey, notably Armenians and Greeks, were, furthermore, perceived as part of Turkey's society. The reason for these predominantly positive attitudes may be sought in the institutional incorporation of Christians and Jews into the broader context of Islamic society or, more inherent to Turkish history, in the positive remembrance of the multi-religious and multi-ethnic face of the Ottoman Empire—and thus in the appreciation of religious diversity as an asset and historical obligation.
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Zhou, Tian-Biao, Yuan-Han Qin, Li-Na Su, Feng-Ying Lei, Wei-Fang Huang, Yan-Jun Zhao, Yu-Sheng Pang, and Kun-Peng Yang. "The association between angiotensin-converting enzyme insertion/deletion gene variant and risk of focal segmental glomerulosclerosis: a systematic review and meta-analysis." Journal of the Renin-Angiotensin-Aldosterone System 12, no. 4 (June 7, 2011): 624–33. http://dx.doi.org/10.1177/1470320311410584.

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Background and objective: The association of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism with the risk of focal segmental glomerulosclerosis (FSGS) is still controversial. A meta-analysis was performed to evaluate the association between ACE I/D gene polymorphism and FSGS susceptibility. Method: We performed a predefined literature search and selection of eligible relevant studies to collect data from electronic databases. Results: In total, 12 articles were identified for the analysis of the association between ACE I/D gene polymorphism and FSGS risk. One report included an investigation in Arab and Jewish populations separately. Thus, there were seven reports in Asians, two in Caucasians, one in Africans, two in Arabs and one in Jews. In Asians, there was a markedly positive association between the D allele or DD genotype and FSGS susceptibility ( p = 0.008; p = 0.002), and the II genotype may play a protective role against FSGS onset ( p = 0.002). However, a link between ACE I/D gene polymorphism and FSGS risk was not found in Caucasians, Africans, Arabs or Jews (Caucasians: D: p = 0.11, DD: p = 0.19, II: p = 0.70; Africans: D: p = 0.40, DD: p = 0.49, II: p = 0.61; Arabs: D: p = 0.34, DD: p = 0.10, II: p = 0.42; Jews: D: p = 0.90, DD: p = 0.97, II: p = 0.83). Conclusion: The D allele or DD homozygosity may become a significant genetic molecular marker for the onset of FSGS in Asians, but not for Caucasians, Africans, Arabs or Jews.
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Hannah-Shmouni, Fady, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R. Prezant, Wuyan Chen, Ann Pulver, and Deborah P. Merke. "Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians." Genetics in Medicine 19, no. 11 (May 25, 2017): 1276–79. http://dx.doi.org/10.1038/gim.2017.46.

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14

Mitchell, Michael J., Roger Mountfield, Rachel Butler, Anwar Alhaq, Letian Dai, Geoffrey F. Savidge, and Paula Bolto-Maggs. "Spectrum of Factor XI Mutations in a Large Cohort - 116 Index Cases, 141 Mutations." Blood 104, no. 11 (November 16, 2004): 1027. http://dx.doi.org/10.1182/blood.v104.11.1027.1027.

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Abstract Factor XI deficiency (MIM 264900) is an autosomal bleeding disorder of variable clinical severity. In contrast to haemophilia A or B the clinical symptoms do not correlate well with plasma levels of factor XI; it is therefore difficult to predict the bleeding tendency from either the factor level or the molecular defect. FXI deficiency is particularly common in the Ashkenazi Jews with a heterozygous frequency of ~9%, associated with two common founder mutations - E117X (Type II) and F283L (Type III). Recent studies have shown that mutations causing Factor XI deficiency are heterogeneous outside the Ashkenazi Jewish population. We have studied 116 index cases from an ethnically diverse U.K. population in order to better understand the spectrum of mutations responsible for factor XI deficiency. Of the index cases, 25 were of Ashkenazi Jewish ancestry, 2 were of Afro-Caribbean origin, 9 Asian, 3 Arabic, 1 New Zealand Maori and 73 white Caucasian; ancestry was unknown in three patients. We have identified a total of 141 causative mutations in 107 patients. Of the nine patients in whom a mutation remained unidentified, six were reproducibly factor XI deficient with no evidence of inhibitors, but in three the diagnosis was inconclusive. The 141 mutations included 54 different sequence variants and 5 whole gene deletions of which there are at least two forms. Of the variants, forty-one are missense mutations, eight nonsense mutations, four splice site mutations and one small deletion. Twenty-seven of these varients are novel and reported here for the first time. Three common mutations were identified, with similar frequencies. The Type II mutation (E117X) accounted for 14.9% of the total mutations, the Type III mutation (F283L) 12.1% and the C128X “UK mutation” 11.3%. Together these three mutations account for more than a third (38.3%) of the total. Outside of these three ‘common’ mutations, no other mutation was identified in more than 3 individuals. Despite the heterogeneous nature of factor XI mutations, with mutations being identified in all 15 exons of the factor XI gene, almost two thirds (65%) of the mutations could be covered in just 3 amplicons - exons 5, 15 and 8/9/10. All patients with Ashkenazi Jewish ancestry had Type II and/or Type III mutations. Three Jewish patients were compound heterozygous for the Type II mutation and another ‘non-Jewish’ mutation. One Arabic patient was homozygous for the Type II mutation. The C128X mutation was only identified in patients with a clear British ancestry. However, not all repeat mutations were restricted to a single ethnic group. Four mutations were identified in more than one ethnic group, three of which were located at CpG sites. This study confirms the ethnic and molecular heterogeneity of factor XI deficiency despite its historical association with the Ashkenazi Jewish population and the Type II & Type III mutations. Our study also reinforces the difficulty of predicting clinical phenotype from molecular defect in factor XI deficiency.
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Bobrov, Ivan Vladimirovich, and Dmitry Alekseevich Mikhailov. "Three Enemies of Russia: Dmitrii Galkovskii and Strategies of “Enemification” in Contemporary Russian Nationalism." Nationalities Papers 47, no. 2 (March 2019): 280–95. http://dx.doi.org/10.1017/nps.2018.2.

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AbstractThis article focuses on ideological constructions of contemporary nationalism shaped by the influence of Dmitrii Galkovskii. At the dawn of the Russian Internet, Galkovskii’s website, Samizdat, became the birthplace for intellectuals of contemporary Russian nationalism who emerged around Voprosy natsionalizma magazine and the online magazine Sputnik i Pogrom. Enemification strategies described in this article are understood as forms of self-representation of contemporary Russian nationalism. The goal of this article is to characterize one of the ideologies of contemporary Russian nationalism, which serves as a moral justification for some odious manifestations—xenophobia and racism. Three forces are characterized by contemporary Russian nationalists as the most dangerous challenges for the nation: the West, internal enemies, and migrants. Traditional and fundamental anti-Western rhetoric has turned into Anglophobia in the ideology of contemporary Russian nationalism. The most profound evidence might be found in Galkovskii’s conception of the history of international relations. This idea is also used when defining the internal enemy. Caucasians have taken the place of Russian nationalism’s previous main internal enemies, Jews, and are treated as representatives of the British colonial administration. The third enemy of modern Russian nationalism is migrants. They are seen as tools of the degradation policy toward Russians.
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Lim, Shen-Yang, Jia Lun Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Kai Bin Lim, Yi Wen Tay, et al. "Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters." Neurodegenerative Diseases 20, no. 1 (2020): 39–45. http://dx.doi.org/10.1159/000508131.

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Pathogenic and risk variants in the LRRK2 gene are among the main genetic contributors to Parkinson’s disease (PD) worldwide, and LRRK2-targeted therapies for patients with PARK-LRRK2are now entering clinical trials. However, in contrast to the LRRK2 G2019S mutation commonly found in Caucasians, North-African Arabs, and Ashkenazi Jews, relatively little is known about other causative LRRK2 mutations, and data on genotype-phenotype correlations are largely lacking. This report is from an ongoing multicentre study in which next-generation sequencing-based PD gene panel testing has so far been conducted on 499 PD patients of various ethnicities from Malaysia. We describe 2 sisters of Chinese ancestry with PD who carry the R1441C mutation in LRRK2 (which in Asians has been reported in only 2 Chinese patients previously), and highlight interesting clinical observations made over a decade of close follow-up. We further explored the feasibility of using a brief, expert-administered rating scale (the Clinical Impression of Severity Index; CISI-PD) to capture data on global disease severity in a large (n = 820) unselected cohort of PD patients, including severely disabled individuals typically excluded from research studies. All patients in this study were managed and evaluated by the same PD neurologist, and these data were used to make broad comparisons between the monogenic PD cases versus the overall “real world” PD cohort. This report contributes to the scarce literature on R1441C PARK-LRRK2, offering insights into natural history and epidemiological aspects, and provides support for the application of a simple and reliable clinical tool that can improve the inclusion of under-represented patient groups in PD research.
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Leiba, Merav, Arnon Afek, Estela Derazne, Adi Leiba, Lital Keinan-Boker, Ari Shamiss, Arnon Nagler, and Jeremy D. Kark. "Jewish Immigrants Of Middle Eastern Origin Have a Lower Incidence Of Multiple Myeloma Compared To Both North African and European Jews In a Cohort Of 746,200 Israeli Men Followed From Late Adolescence." Blood 122, no. 21 (November 15, 2013): 5346. http://dx.doi.org/10.1182/blood.v122.21.5346.5346.

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Abstract Differences in the prevalence of Multiple Myeloma across races have been observed, with a two to three fold greater prevalence of Multiple Myeloma in African Americans compared with Caucasians. Little is known about the incidence or prevalence of Multiple Myeloma in other populations. The association between father's country of origin and the incidence of Multiple Myeloma was examined in a nationwide population-based cohort. Health-related data on 746,200 16-19 year old Jewish males examined for fitness for military service between 1967 and 1998 were linked to the Israel National Cancer Registry to derive Multiple Myeloma incidence up to 2006. During 17,352,349 person-years of follow-up, 109 examinees developed plasma cell dyscrasias. West Asian origin (predominantly Middle Eastern) was protective compared to European (predominantly Ashkenazi) origin (HR 0.40; 95% CI 0.23-0.70; p=0.001). The association persisted when adjusted for year of birth (HR 0.39; 95% CI 0.22-0.68; p=0.001), and also when restricted to Israeli-born males (HR 0.44; 95% CI 0.24-0.82; p=0.01). In conclusion, adolescents of Middle Eastern origin are at persistently lower risk of developing Multiple Myeloma compared to European origin, suggesting a genetic background in the pathogenesis of Multiple Myeloma. Disclosures: No relevant conflicts of interest to declare.
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Foeldvari, I., J. Klotsche, O. Kasapcopur, A. Adrovic, M. T. Terreri, R. Cimaz, M. Katsikas, et al. "FRI0466 NO DISEASE PROGRESSION AFTER 36 MONTHS FOLLOW UP IN THE JUVENILE SYSTEMIC SCLERODERMA INCEPTION COHORT." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 830.1–831. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2271.

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Background:Juvenile systemic scleroderma (jSSc) is an orphan disease with a prevalence of 3 in 1 000 000 children. There is rare longitudinal prospective follow up data of patients with jSSc. In the international juvenile systemic scleroderma cohort (JSScC) patients are followed with a standardized assessment prospectively.Objectives:To assess the changes regarding organ involvement pattern and patients related outcomes after 36 months follow up in the JSScC.Methods:Patients diagnosed according the ACR 2013 criteria for systemic sclerosis were included, if they developed the first non-Raynaud symptom before the age of 16 and were under the age of 18 at the time of inclusion. Patients were followed prospectively every 6 months with a standardized assessment.Results:39 patients in the JSScC had 36 months follow up. 80% had a diffuse subtype. 95% of the patients were Caucasian origin. 31 of the patients were female (80%). Mean disease duration at time of inclusion was 3.5 years. Mean age onset of Raynaud’s was 8.8 years and mean age of onset at the first non-Raynaud´s was 9.5 years. Around 30% of the patients were anti-Scl70 positive and none of them anti-centromere positive. The MRSS dropped from the time point of the inclusion into the cohort from 13.9 to 11.8 after 36 months. Pattern of organ involvement did not show any significant change, beside the increase of the nailfold capillary changes from 49% to 73% (p=0.037). No renal crisis occurred. No mortality was observed.They were positive significant changes in the patient related outcomes. The physician global disease activity decreased from 40.0 to 22.1 assessed on a VAS scale of 0 to 100 (p <0.001).Patients global disease activity decreased from 43.3 to 20.4 and patients global disease damage from 45.0 to 21.7 both assessed on a VAS scale of 0 to 100 (p<0.001).Conclusion:After 36 months follow up, we could observe a significant improvement of patient related outcomes and only one significant change in organ pattern involvement. In a mostly diffuse subset patient population this is a very promising result regarding outcome.Supported by the “Joachim Herz Stiftung”Disclosure of Interests:Ivan Foeldvari Consultant of: Novartis, Jens Klotsche: None declared, Ozgur Kasapcopur: None declared, Amra Adrovic: None declared, Maria T. Terreri: None declared, Rolando Cimaz: None declared, Maria Katsikas: None declared, Dana Nemcova: None declared, Maria Jose Santos Speakers bureau: Novartis and Pfizer, Juergen Brunner Grant/research support from: Pfizer, Novartis, Consultant of: Pfizer, Novartis, Abbvie, Roche, BMS, Speakers bureau: Pfizer, Novartis, Abbvie, Roche, BMS, Mikhail Kostik: None declared, Kirsten Minden Consultant of: GlaxoSmithKline, Sanofi, Speakers bureau: Roche, Anjali Patwardhan: None declared, Kathryn Torok: None declared, Nicola Helmus: None declared
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Son, M. B., Y. Kimura, K. Aalto, L. Berntson, J. Dallas, C. Duffy, M. Glerup, et al. "OP0197 THE INITIAL TREATMENT OF SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS: AN INTERNATIONAL COLLABORATION AMONG 10 REGISTRIES." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 123.1–123. http://dx.doi.org/10.1136/annrheumdis-2020-eular.1235.

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Background:The introduction of biologics has transformed care for children with systemic juvenile idiopathic arthritis (SJIA). Differences in treatment approaches between countries and how they have changed over time are not well studied.Objectives:We contrast the initial features, treatment and 12-month outcome in SJIA across 10 JIA registers in Europe and North America.Methods:Data were extracted locally from 10 Registers including manifestations at diagnosis, medication use over first year and outcomes (Physician Global Assessment (PGA), active joint count (AJC)) at 12 months. Data was compared before/after 2012 to assess change over time. Weighted (w) means were used to adjust for varying number of patients/Register.Results:1,149 patients; 553 had medication data for 2012-2018; primarily female and Caucasian; median age at diagnosis 5.3-8 years. Median duration of symptoms prior to first visit varied (0-3.3 months). Glucocorticoid (GC) use was common in the first year (w_average 72% (range 33-96%)). Biologic use included IL-1, IL-6 and TNF inhibitors. The proportion of patients treated with biologics, primarily anakinra, increased after 2012 (Table 1). W_mean PGA and AJC at the 12±3 month visit were 1.55 and 1.57, respectively (Table 2). At one year, the proportion of patients prescribed GC varied (w_mean 40%, range 26-60%).Conclusion:Analysis of SJIA patients across 10 countries show that time to first rheumatology visit was highly variable. Although local factors influence treatment decisions, biologic use increased after 2011; anakinra most common. Nearly 75% of patients were prescribed steroids within the first year but seemed to decrease after 1 year. More study is needed on long-term outcomes in SJIA patients within this modern era.1: Medication Usage within First Year (pre/post 2012 where available)Glucocorticoids (IV+PO)%Methotrexate%Biologic%Anti-IL-1%Anakinra%Tocilizumab%USA2010-2011n=922563333330USA2012-2018n=91501771705717Canada2005-2010n=8876601710100UK2001-2011n=69787110330UK2012-2018n=31485829191919Portugal2008-2011n=7342364330Portugal2012-2018n=19744732161621Sweden2009-2015n=50964662302830Denmark1997-2011n=83864013662Denmark2012-2018n=325012.575636319Turkey2000-2011n=71937758423720Turkey2012-2018n=11498524032289Germany2000-2011n=27173621376<1Germany2012-2018n=249574727191020Norway1997-2011n=26816212448Norway2012-2018n=510060100202080Finland2006-2011n=12424217008Finland2012-2018n=1225880082: Clinical Outcomes at 12 Months -all yearsAJCMedian [IQR]PGAMedian [IQR]GC Use, %USA0 [0, 0]0 [0,0]47Canada0 [0, 2]0.1 [0, 2.7]41UK0 [0, 0]0.5 [0, 1.7]53Portugal0 [0, 0]0.3 [0, 1]53Sweden0 [0, 0.5]0 [0, 0.5]31Denmark0 [0, 0]-26Turkey4 [2, 7]4 [3, 7]60Germany0 [0, 1]0 [0,2]36Norway0 [0, 0]0.5 [0, 2]45Finland0 [0, 0]0 [0, 0]33Disclosure of Interests:Mary Beth Son: None declared, Yukiko Kimura Consultant of: Genetech, Kristiina Aalto: None declared, Lillemor Berntson: None declared, Johnathan Dallas: None declared, Ciaran Duffy: None declared, Mia Glerup: None declared, Jaime Guzman: None declared, Troels Herlin: None declared, Petteri Hovi: None declared, Kimme Hyrich Grant/research support from: Pfizer, UCB, BMS, Speakers bureau: Abbvie, Jens Klotsche: None declared, Bo Magnusson: None declared, Vanessa McItyre: None declared, Ellen Nordal: None declared, Seza Özen: None declared, Maria Jose Santos Speakers bureau: Novartis and Pfizer, Betül Sözeri: None declared, Timothy Beukelman Consultant of: UCB, Novartis
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Foeldvari, I., J. Klotsche, O. Kasapcopur, A. Adrovic, K. Torok, M. T. Terreri, A. P. Sakamoto, et al. "THU0499 IS THERE A DIFFERENT PRESENTATION OF JUVENILE SYSTEMIC DIFFUSE AND LIMITED SUBSET? DATA FROM THE JUVENILE SCLERODERMA INCEPTION COHORT. WWW.JUVENILE-SCLEORDERMA.COM." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 487–88. http://dx.doi.org/10.1136/annrheumdis-2020-eular.1667.

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Background:Juvenile systemic scleroderma (jSSc) is an orphan disease with a prevalence of 3 per 1 000 000 children. There are limited data regarding the clinical presentation of jSSc. The Juvenile Systemic Scleroderma Inception Cohort (JSSIC) is the largest multinational registry that prospectively collects information about jSSc patients.Objectives:Evaluation of the jSSc patients at the time of inclusion in the JSSIC.Methods:Patients were included in the JSSIC if they fulfilled the adult ACR/EULAR classification criteria for systemic scleroderma, if they presented the first non-Raynaud symptom before 16 years of age and if they were younger than 18 years of age at time of inclusion. Patients’ characteristics at time of inclusion were evaluated.Results:Until 15thof December 2019 hundred fifty patients were included, 83% of them being Caucasian and 80% female. The majority had the diffuse subtype (72%) and 17% of all jSSc had overlap features. The mean age of first presentation of Raynaud´s phenomenon was 9.8 years in the diffuse subtype (djSSc) and 10.7 years in the limited subtype (ljSSc) (p=.197). The mean age at first non-Raynaud’s symptoms was 10.0 years in the djSSc and 11.2 years in the ljSSc (p=0.247). Mean disease duration at time of inclusion was 3.4 years in the djSSc and 2.4 years in the ljSSc group.Significant differences were found between the groups regarding mean modified Rodnan skin score, 18.2 in the djSSc vs 6.2 in the ljSSc (p=0.02); presence of Gottron´s papulae (djSSc 30% vs ljSSc 13%, p=0.43);presence of teleangiectasia (djSSc 42% vs 18% ljSS, p=0.01); history of ulceration (djSSc 42% vs 18% ljSSc,p=0.008); 6 Minute walk test below the 10thpercentile (djSSc 85% vs ljSSc 54%, p=0.044), total pulmonary involvement (djSSc 49% vs ljSSc 31%, p=0.045), cardiac involvement (ljSSc 17% vs djSSc 3%, p=0.002). djSSc patients had significantly worse scores for Physician Global Assessment of disease activity compared to ljSSc patients (VAS 0-100) (40 vs 15) (p=0.001) and for Physician Global Assessment of disease damage (VAS 0-100) (36 vs 17) (p=0.001).There were no statistically significant differences in the other presentations. Pulmonary hypertension occurred in approximately 6% in both groups. No systemic hypertension or renal crisis was reported. ANA positivity was 90% in both groups. Anti-Scl70 was positive in 35% in djSSc and 36% in the ljSSc group. Anticentromere positivity occurred in 3% in the djSSc and 7% in the ljSSc group.Conclusion:In this unique large cohort of jSSc patients there were significant differences between djSSc and ljSSc patients at time of inclusion into the cohort regarding skin, vascular, pulmonary and cardiac involvement. According to the physician global scores the djSSc patients had a significantly more severe disease. Interestingly the antibody profile was similar in both scleroderma phenotypes.Supported by the “Joachim Herz Stiftung”Disclosure of Interests: :Ivan Foeldvari Consultant of: Novartis, Jens Klotsche: None declared, Ozgur Kasapcopur: None declared, Amra Adrovic: None declared, Kathryn Torok: None declared, Maria T. Terreri: None declared, Ana Paula Sakamoto: None declared, Valda Stanevicha: None declared, Flávio R. Sztajnbok: None declared, Jordi Anton Grant/research support from: grants from Pfizer, abbvie, Novartis, Sobi. Gebro, Roche, Novimmune, Sanofi, Lilly, Amgen, Grant/research support from: Pfizer, abbvie, Novartis, Sobi. Gebro, Roche, Novimmune, Sanofi, Lilly, Amgen, Consultant of: Novartis, Sobi, Pfizer, abbvie, Consultant of: Novartis, Sobi, Pfizer, abbvie, Speakers bureau: abbvie, Pfizer, Roche, Novartis, Sobi, Gebro, Speakers bureau: abbvie, Pfizer, Roche, Novartis, Sobi, Gebro, Brian Feldman Consultant of: DSMB for Pfizer, OPTUM and AB2-Bio, Ekaterina Alexeeva Grant/research support from: Roche, Pfizer, Centocor, Novartis, Speakers bureau: Roche, Novartis, Pfizer., Maria Katsikas: None declared, Vanessa Smith Grant/research support from: The affiliated company received grants from Research Foundation - Flanders (FWO), Belgian Fund for Scientific Research in Rheumatic diseases (FWRO), Boehringer Ingelheim Pharma GmbH & Co and Janssen-Cilag NV, Consultant of: Boehringer-Ingelheim Pharma GmbH & Co, Speakers bureau: Actelion Pharmaceuticals Ltd, Boehringer-Ingelheim Pharma GmbH & Co and UCB Biopharma Sprl, edoardo marrani: None declared, Mikhail Kostik: None declared, Natalia Vasquez-Canizares: None declared, Simone Appenzeller: None declared, Mahesh Janarthanan: None declared, Monika Moll: None declared, Dana Nemcova: None declared, Anjali Patwardhan: None declared, Maria Jose Santos Speakers bureau: Novartis and Pfizer, Sujata Sawhney: None declared, Dieneke Schonenberg: None declared, Cristina Battagliotti: None declared, Lillemor Berntson Consultant of: paid by Abbvie as a consultant, Speakers bureau: paid by Abbvie for giving speaches about JIA, Blanca Bica: None declared, Juergen Brunner Grant/research support from: Pfizer, Novartis, Consultant of: Pfizer, Novartis, Abbvie, Roche, BMS, Speakers bureau: Pfizer, Novartis, Abbvie, Roche, BMS, Patricia Costa Reis: None declared, Despina Eleftheriou: None declared, Liora Harel: None declared, Gerd Horneff Grant/research support from: AbbVie, Chugai, Merck Sharp & Dohme, Novartis, Pfizer, Roche, Speakers bureau: AbbVie, Bayer, Chugai, Merck Sharp & Dohme, Novartis, Pfizer, Roche, Daniela Kaiser: None declared, Dragana Lazarevic: None declared, Kirsten Minden Consultant of: GlaxoSmithKline, Sanofi, Speakers bureau: Roche, Susan Nielsen: None declared, Farzana Nuruzzaman: None declared, Yosef Uziel: None declared, Nicola Helmus: None declared
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"Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 343, no. 1306 (March 29, 1994): 385–90. http://dx.doi.org/10.1098/rstb.1994.0033.

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Various mutations in the prion protein (PrP) gene are associated with Creutzfeldt-Jakob disease (CJD), a transmissible fatal neurodegenerative disorder. Among Libyan Jews, cjd is a familial disease with an incidence about 100 times higher than the worldwide population, CJD in this community segregates with a point mutation at codon 200 of the PrP gene which causes the substitution of lysine for glutamate. This mutation was found in all definitely affected individuals and yields a maximum lod score of 4.85. Some healthy elderly mutation carriers above 65 years of age were identified, suggesting partial penetrance. Homozygous patients have the same disease pattern and age of onset as heterozygous patients, which argues that CJD associated with the codon 200 lysine mutation is a true dominant disorder. In the Caucasian population, Palmer et al . (1991) reported an association between homozygosity in a polymorphic site at codon 129 of the PrP gene, coding for either valine or methionine, with a tendency to acquire the sporadic or iatrogenic forms of CJD, as well as with disease age of appearance in the genetic type. The incidence of the polymorphism at codon 129 in the control Libyan population is similar to the one found in the Caucasian population. In the Libyan CJD patients, the codon 200 mutation is within a Met 129 -encoding allele. The incidence of the Met allele is significantly higher in the affected pedigrees than in the control Libyan population; however, no difference was detected between CJD patients, codon 200 healthy carriers, and their normal family members. Homozygosity at codon 129 did not correlate with age of onset or the clinical course in the Libyan Jewish patients. Our finding suggests that the codon 200 mutation causing CJD in Libyan Jews occurred in an isolated pedigree, and has not propagated since to the general Libyan Jewish community.
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Mullick, Mujibar Rahaman, and Sumanta Panja. "EVALUATION OF RESULTS OF GRADUAL DISTRACTION TECHNIQUE FOR CORRECTION AND FUNCTIONAL RECOVERY OF NEGLECTED CTEV." INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH, June 1, 2021, 31–33. http://dx.doi.org/10.36106/ijsr/2621178.

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INTRODUCTION: Congenital talipes equinovarus (CTEV) or clubfoot is commonest congenital foot deformity. The incidence of Congenital Idiopathic Clubfoot ranges from 0.36/1000 to 6.8/1000 in some populations and about 1.2/1000 births among Caucasians including Indians, with a 1 much higher occurrence in the affected families . More common in male (2:1). Bilateral cases account for about 50%. In unilateral cases right side affected more. The term talipes is derived from talus (ankle bone) and pes (foot). AIMS & OBJECTIVES:To assess the efcacy of gradual differential distraction with JESS as a method of treatment in neglected CTEV. Evaluation of functional recovery of neglected CTEVusing this technique. To assess the morbidity & complication of the technique. MATERIALS AND METHODS: Study area: - The study was institution based, conducted at the Orthopaedics department of I.P.G.M.E.R.& S.S.K.M. Hospital, Kolkata, a tertiary care centre catering to people of West Bengal and adjacent states of Eastern India Study population: Patients attending Orthopedics' O.P.D. of IPGMER & SSKM Hospital. Study period: From May 2016 to Oct 2017 (18 months duration) Sample size: 20 patients (24 feet) Sample design: Patient selection: RESULTS AND ANALYSIS: 2(8.3%) patients exion deformity of toes. 1(4.2%) Persitant cavus, 1(4.2%) had liniar skin necrosis, 1(4.2%) patients had pressure sore, 1(4.2%) had oedema of feet, 1(4.2%) persistent all deformity, 2(8.3%) patients had persistan tequinus, 5(20.8%) patients had persistant heel varus, 2(8.3%) patients had forfoot adduction, 3(12.5%) patients had pin tract infection and 11(45.8%) had no complication. 4(16.7%) patients had excellent functional outcome, 8(33.3%) patients had good functional outcome, 8(33.3%) patients had moderate functional outcome and 4(16.7%) patients had poor functional outcome. CONCLUSION: In our study 12(82.3%) feet had excellent to moderate result, only 4(16.7%) had poor result with limited complication. Few patients left with one or more persistent deformity but the nal outcome was functionally satisfactory. JESS is an excellent technique in the management of neglected cases of CTEV especially when it is done at an early age. Differential distraction by JESS xator for the correction of neglected idiopathic CTEV is an effective and patient-friendly method of management. Therefore the differential distraction with JESS can be considered as a treatment modality for the neglected CTEV.
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Leung, Karen Lynn, Smriti Sanchita, Phillip Dumesic, Xiangming Ding, Xinmin Li, Marco Morselli, Matteo Pellegrini, Daniel Anthony Dumesic, and Gregorio Daniel Chazenbalk. "OR20-03 Transcriptional Changes in Lipid Metabolism of Adipocytes Derived from Subcutaneous Abdominal Adipose Stem Cells of Normal-Weight Polycystic Ovary Syndrome Women." Journal of the Endocrine Society 4, Supplement_1 (April 2020). http://dx.doi.org/10.1210/jendso/bvaa046.251.

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Abstract Normal-weight polycystic ovary syndrome (PCOS) women exhibit increased adipose insulin resistance in vivo (1) accompanying enhanced subcutaneous (SC) abdominal adipose stem cell (ASC) development to adipocytes with greater lipid accumulation per cell in vitro (2). To determine whether this phenomenon is associated with abnormal adipogenic gene transcription during ASC differentiation into adipocytes, SC abdominal ASCs isolated from three non-Hispanic Caucasian normal-weight PCOS women and three age- and BMI-matched controls were cultured in adipogenic differentiation medium for 3–12 days. After RNA isolation, gene expression levels were determined by RNA sequencing at days 3, 7, and 12. Differentially expressed genes were filtered for significance (padj&lt;0.05) and fold change (&gt;2-fold); upstream regulator genes and gene ontology (GO) functions were determined using Ingenuity Pathway Analysis. Gene set enrichment analysis (GSEA) also was used to identify enriched cellular processes (3). Differentially expressed genes in PCOS vs. control cells were either upregulated (466, 768 and 441 genes on days 3, 7 and 12, respectively) or downregulated (742, 974 and 605 genes on days 3, 7 and 12, respectively) over time, with critical genes governing adipocyte cell differentiation in PCOS cells increased 2–6 fold at days 3, 7 and 12 (PPARγ, CEBPα, ADIPOQ, AGPAT2, FABP4, LPL, PLIN1). The predicted upstream regulator genes TGFβ1 (an adipogenic inhibitor) and TNF (a pro-inflammatory adipokine) were significantly reduced in PCOS relative to control cells at all time points. The GO functions lipid oxidation and free fatty acid (FFA) beta-oxidation were enriched amongst upregulated genes in PCOS cells across all time points, while acylglycerol synthesis was increased at days 7 and 12 alone (z&gt;2, p&lt;0.05, all GO functions). In parallel, GSEA showed in PCOS cells significantly increased transcripts related to oxidative phosphorylation, peroxisome activity and adipogenesis at all time points (p&lt;0.05). Thus, adipocytes derived from SC abdominal ASCs of normal-weight PCOS women exhibit early activation of adipogenic genes, potentially underlying their exaggerated lipid accumulation in vitro, as previously described (2). These PCOS-related changes in gene expression involve an increase in both oxidative phosphorylation and FFA beta oxidation, which could disrupt the balance between energy production and lipid storage, particularly when caloric intake exceeds energy utilization. References: (1) Dumesic DA, et al JCEM 2019;104(6):2171–83; (2) Leung KL, et al. JES 2019;3:Supplement 1, SUN-107 (3) Subhramanian A, et al. PNAS 2005;102:43
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