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https://www.readbyqxmd.com/read/29792160/nextsv-a-meta-caller-for-structural-variants-from-low-coverage-long-read-sequencing-data
#1
Li Fang, Jiang Hu, Depeng Wang, Kai Wang
BACKGROUND: Structural variants (SVs) in human genomes are implicated in a variety of human diseases. Long-read sequencing delivers much longer read lengths than short-read sequencing and may greatly improve SV detection. However, due to the relatively high cost of long-read sequencing, it is unclear what coverage is needed and how to optimally use the aligners and SV callers. RESULTS: In this study, we developed NextSV, a meta-caller to perform SV calling from low coverage long-read sequencing data...
May 23, 2018: BMC Bioinformatics
https://www.readbyqxmd.com/read/29790428/multi-ethnic-sult1a1-copy-number-profiling-with-multiplex-ligation-dependent-probe-amplification
#2
Raymon Vijzelaar, Mariana R Botton, Lisette Stolk, Suparna Martis, Robert J Desnick, Stuart A Scott
AIM: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. METHODS: A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals. RESULTS: The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38...
May 23, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29789022/healthcare-disparities-amongst-vulnerable-populations-of-arabs-and-jews-in-israel
#3
Efrat Shadmi
The complex nature of studying health and healthcare disparities in general, and in the context of the Israeli healthcare system in particular, is depicted in two recent IJHPR articles. The first examines Emergency Department (ED) waiting times in a tertiary children's hospital and the second examines disparities in the health care for people with schizophrenia of an ethnic-national minority. Contrary to other Israeli studies on wide disparities in health and healthcare, these studies show no disparities -  ED waiting times did not differ among Arab and Jewish children and report no differences in performance of Hemoglobin A1C tests or in surgical interventions in patients with cardiovascular disease between Arabs and Jews with schizophrenia...
May 22, 2018: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/29774265/assisted-reproduction-and-middle-east-kinship-a-regional-and-religious-comparison
#4
Marcia C Inhorn, Daphna Birenbaum-Carmeli, Soraya Tremayne, Zeynep B Gürtin
This article compares the use of assisted reproductive technology (ART) and resultant kinship formations in four Middle Eastern settings: the Sunni Muslim Arab world, the Sunni Muslim but officially 'secular' country of Turkey, Shia Muslim Iran and Jewish Israel. This four-way comparison reveals considerable similarities, as well as stark differences, in matters of Middle Eastern kinship and assisted reproduction. The permissions and restrictions on ART, often determined by religious decrees, may lead to counter-intuitive outcomes, many of which defy prevailing stereotypes about which parts of the Middle East are more 'progressive' or 'conservative'...
June 2017: Reproductive Biomedicine & Society Online
https://www.readbyqxmd.com/read/29773520/frequency-of-gjb2-mutations-in-patients-with-nonsyndromic-hearing-loss-from-an-ethnically-characterized-brazilian-population
#5
Felippe Felix, Marcia Gonçalves Ribeiro, Shiro Tomita, Mariano Gustavo Zalis
INTRODUCTION: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. OBJECTIVE: This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation...
November 21, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29765973/complete-regrowth-of-beard-hair-with-ruxolitinib-in-an-alopecia-universalis-patient
#6
Yuval Ramot, Abraham Zlotogorski
While most alopecia areata (AA) cases resolve spontaneously, the more severe types of AA, alopecia totalis (AT) and alopecia universalis (AU), can be highly resistant to therapy. We report on a 33-year-old ultraorthodox Jewish man with an 11-year history of AA that resulted in complete loss of the scalp and body hair 7 years ago. Previous treatments with intralesional and systemic corticosteroids had only partial and temporary effects. The patient was treated with ruxolitinib, 20 mg twice daily, resulting in complete growth of the beard after 4 months of treatment...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29765957/genetic-insights-into-frailty-association-of-9p21-23-locus-with-frailty
#7
Sanish Sathyan, Nir Barzilai, Gil Atzmon, Sofiya Milman, Emmeline Ayers, Joe Verghese
Frailty is a complex aging phenotype associated with increased vulnerability to disability and death. Understanding the biological antecedents of frailty may provide clues to healthy aging. The genome-wide association study hotspot, 9p21-23 region, is a risk locus for a number of age-related complex disorders associated with frailty. Hence, we conducted an association study to examine whether variations in 9p21-23 locus plays a role in the pathogenesis of frailty in 637 community-dwelling Ashkenazi Jewish adults aged 65 and older enrolled in the LonGenity study...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29758291/dr-elliot-f-ellis-initiating-personalized-asthma-management-in-children
#8
Stanley J Szefler
Elliot F. Ellis is indeed a giant in the field of allergy and immunology. From his leadership role in developing a pediatric allergy and immunology fellowship at National Jewish Health and his seminal work in theophylline pharmacokinetics, he trained many excellent clinicians and researchers. He assumed the role of Chair of Pediatrics at the Children's Hospital of Buffalo in 1974 and transformed that training program in pediatrics to a top-rated program in the country along with his own training program in allergy and immunology...
May 11, 2018: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/29757890/pediatric-carbon-monoxide-poisoning-in-southern-israel-a-cross-sectional-study
#9
Yariv Fruchtman, Zvi H Perry, Tom Leibson, Liat Vered Cohen, Matitiahu Lifshitz, Eugene Leibovitz
OBJECTIVES: This study aimed to describe the epidemiology and clinical burden of unintended carbon monoxide (CO) poisoning among children in the Negev region of southern Israel. METHODS: This was a cross-sectional retrospective study of CO poisoning patients admitted to Soroka University Medical Center in 2011 through 2015. RESULTS: Overall, 43 cases of CO poisoning were recorded among children younger than 18 years. Five patients died, all upon admission...
May 2, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29755063/marx-and-the-kabbalah-aaron-shemuel-lieberman-s-materialist-interpretation-of-jewish-history
#10
Eliyahu Stern
This essay addresses the reception of Karl Marx's writings among Russian Jewish revolutionaries in the 1870s. It explores the way Aaron Shemuel Lieberman (1843-1880), known as "the father of Jewish socialism," interpreted Marx through a kabbalistic prism. It argues that Jews were attracted to Marx in part because of the overlaps between historical materialism and certain strands of the kabbalistic tradition. It also sheds light on the early reception of Marx and the way his theory of revolution was reinterpreted to reflect the unique socio-economic conditions of the Russian Empire...
2018: Journal of the History of Ideas
https://www.readbyqxmd.com/read/29750345/paradoxical-affinities-otherness-and-ambivalence-as-creative-pathways
#11
Jan Wiener
Referring to her own background as the child of Jewish refugees forced to leave their countries of origin before the second World War, the author describes how her attitude towards Jung and his ideas has evolved. The role of paradoxical affinities that have affected the author's life and identity as a Jungian analyst are considered, alongside the impact of experiences of otherness whilst supervising and teaching abroad, particularly in Eastern Europe.
June 2018: Journal of Analytical Psychology
https://www.readbyqxmd.com/read/29742279/ethnicity-related-trends-in-gynecologic-malignancies-in-israel-1993-2013
#12
Nadav Michaan, Limor Gortzak-Uzan, Dan Grisario, Ido Laskov
OBJECTIVE: To describe trends and ethnic differences in incidence of gynecologic cancer in Israel. METHODS: In the present retrospective epidemiologic study, age-standardized rates (ASRs) rates of gynecologic malignancies that occurred between January 1, 1993, and December 31, 2013, were extracted from the Israeli National Cancer Registry. The annual percent change (APC) was calculated separately for Jewish and Arab patients for ovarian, endometrial, and cervical cancers...
May 9, 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29731402/-how-can-we-explain-the-crimes-of-nazis-doctors-in-auschwitz
#13
Bruno Halioua
The Nazi doctors committed crimes in the camp of Auschwitz which constitute the darkest page in the history of medicine of the twentieth century. They were largely directly involved in the murder of the 1.1 million Jewish majority and about 21,000 gypsies who were transported from all over Europe. How can we explain the intellectual journey of those men who had embraced the medical career to relieve their neighbors? How could these cultivated and refined men, from the most prestigious faculties of medicine, have been able to achieve activities ethically unacceptable? Eight factors help to explain the crimes committed by these educated and cultivated SS doctors: indoctrination fervent to Nazism, adherence to racial hygiene, a false sense of participation in a "public health enterprise", virulent anti-Semitism, unreserved obedience to orders, the opportunity to avoid the danger of fighting areas, the ambition to carry out medical research and the desire to improve surgical knowledge...
May 3, 2018: La Presse Médicale
https://www.readbyqxmd.com/read/29706639/carrier-frequency-analysis-of-mutations-causing-autosomal-recessive-inherited-retinal-diseases-in-the-israeli-population
#14
Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman, Eran Pras, Ohad Wormser, Ohad S Birk, Libe Gradstein, Eyal Banin, Tamar Ben-Yosef, Dror Sharon
Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods to calculate carrier frequency for mutations causing autosomal-recessive (AR) IRDs in the Israeli population. We created an SQL database containing information on 178 genes from gnomAD (including genotyping of 5706 Ashkenazi Jewish (AJ) individuals) and our cohort of >2000 families with IRDs...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29705978/high-depth-whole-genome-sequencing-of-an-ashkenazi-jewish-reference-panel-enhancing-sensitivity-accuracy-and-imputation
#15
Todd Lencz, Jin Yu, Cameron Palmer, Shai Carmi, Danny Ben-Avraham, Nir Barzilai, Susan Bressman, Ariel Darvasi, Judy H Cho, Lorraine N Clark, Zeynep H Gümüş, Vijai Joseph, Robert Klein, Steven Lipkin, Kenneth Offit, Harry Ostrer, Laurie J Ozelius, Inga Peter, Gil Atzmon, Itsik Pe'er
While increasingly large reference panels for genome-wide imputation have been recently made available, the degree to which imputation accuracy can be enhanced by population-specific reference panels remains an open question. Here, we sequenced at full-depth (≥ 30×), across two platforms (Illumina X Ten and Complete Genomics, Inc.), a moderately large (n = 738) cohort of samples drawn from the Ashkenazi Jewish population. We developed a series of quality control steps to optimize sensitivity, specificity, and comprehensiveness of variant calls in the reference panel, and then tested the accuracy of imputation against target cohorts drawn from the same population...
April 28, 2018: Human Genetics
https://www.readbyqxmd.com/read/29705948/variations-in-biochemical-values-for-common-laboratory-tests-a-comparison-among-multi-ethnic-israeli-women-cohort
#16
Ruth Birk, Eliyahu M Heifetz
BACKGROUND: Biochemical laboratory values are an essential tool in medical diagnosis, treatment, and follow-up; however, they are known to vary between populations. Establishment of ethnicity-adjusted reference values is recommended by health organizations. AIM: To investigate the ethnicity element in biochemical lab values studying women of different ethnic groups. METHODS: Biochemical lab values (n = 27) of 503 adult Israeli women of three ethnicities (Jewish Ashkenazi, Jewish Sephardic, and Bedouin Arab) attending a single medical center were analyzed...
April 28, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29702013/god-i-can-t-stop-thinking-about-sex-the-rebound-effect-in-unsuccessful-suppression-of-sexual-thoughts-among-religious-adolescents
#17
Yaniv Efrati
The rebound effect of thought suppression refers to attempts to suppress thoughts that result in an increase of those thoughts. The aim of this three-study research was to investigate the suppression of thoughts and its possible importance in the cognitive model of predicted compulsive sexual behavior (CSB) among Israeli Jewish religious and secular adolescents. Study 1 (N = 661): Do religious and secular adolescents differ in CSB and related psychopathology? Study 2 (N = 522): Does CSB mediate the link between religiosity and well-being? Study 3 (N = 317): Does religiosity relate to suppression of sexual thoughts, which relates to higher CSB and lower well-being? The analyses indicated that religious adolescents are higher in CSB than secular ones, and that sexual suppression and CSB mediate the link between religiosity and well-being...
April 27, 2018: Journal of Sex Research
https://www.readbyqxmd.com/read/29701325/pediatric-maxillofacial-trauma-epidemiologic-study-between-the-years-2012-2015-in-israeli-medical-center
#18
Michael Joachim, Moti Tuizer, Shareef Araidy, Imad Abu El-Naaj
BACKGROUND/AIM: Trauma is the leading cause of morbidity and mortality in the pediatric population worldwide, and Israel is no different in this aspect. Of these injuries, craniofacial trauma is a significant cause of morbidity in the pediatric population. The high occurrence of pediatric trauma is possibly related to a lower perception for the hazards that surround them, combined with the restless and adventurous nature that is typical of children. The aim was to perform a retrospective, epidemiological study on facial trauma in children examined in the emergency room in order to analyze the different patterns in pediatric maxillofacial trauma, to emphasize this data and educate those involved in preventing and treating children's injuries...
April 27, 2018: Dental Traumatology: Official Publication of International Association for Dental Traumatology
https://www.readbyqxmd.com/read/29698876/childhood-sexual-abuse-mental-health-and-religion-across-the-jewish-community
#19
David H Rosmarin, Steven Pirutinsky, Moses Appel, Talia Kaplan, David Pelcovitz
Current estimates of childhood sexual abuse among Jews in the United States are only available for females and do not include a spectrum of religiosity. We examined sexual abuse, mental health, and religion, in a religiously diverse sample of male and female Jewish adults from North America, using a novel methodology to minimize sampling/response biases. A total of 372 diversely religious Jews participated. Prevalence of any form of childhood sexual abuse was statistically equivalent to national rates, except that females reported less involuntary penetration (OR = 0...
April 23, 2018: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29698804/phenotype-variability-in-hajdu-cheney-syndrome
#20
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, Annick Raas-Rothschild, David B Goldstein, Yair Anikster
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood...
April 23, 2018: European Journal of Medical Genetics
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