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https://www.readbyqxmd.com/read/28933361/lysosomal-storage-disorders-and-malignancy
#1
REVIEW
Gregory M Pastores, Derralynn A Hughes
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. It has been shown that two major sphingolipids that accumulate in GD, namely, β-glucosylceramide 22:0 (βGL1-22) and glucosylsphingosine (LGL1), can be recognized by a distinct subset of CD1d-restricted human and murine type II natural killer T (NKT) cells...
February 27, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28925807/suicide-risk-among-holocaust-survivors-following-psychiatric-hospitalizations-a-historic-cohort-study
#2
Ido Lurie, Nehama Goldberger, Adi Gur, Ziona Haklai
OBJECTIVES: The association between Holocaust experience, suicide and psychiatric hospitalization has not been unequivocally established. The aim of this study was to determine the risk of suicide among three Jewish groups with past or current psychiatric hospitalizations: Holocaust survivors (HS), survivors of pre- Holocaust persecution (early HS) and a comparison group of similar European background who did not experience Holocaust persecution. METHODS: In a retrospective cohort study based on the Israel National Psychiatric Case Register (NPCR) and the database of causes of death, all suicides in the years 1981-2009 were found for HS (n = 16,406), early HS (n = 1,212) and a comparison group (n = 4,286)...
September 19, 2017: Archives of Suicide Research: Official Journal of the International Academy for Suicide Research
https://www.readbyqxmd.com/read/28922471/a-phenotype-combining-hidradenitis-suppurativa-with-dowling-degos-disease-caused-by-a-founder-mutation-in-psenen
#3
M Pavlovsky, O Sarig, M Eskin-Schwartz, N Malchin, R Bochner, J Mohamad, A Gat, A Peled, A Hafner, E Sprecher
Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The co-existence of the two disorders was recently found to result from mutations in PSENEN, encoding protein presenilin enhancer gamma-secretase subunit. Here we report 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c...
September 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28910803/consanguinity-rates-predict-long-runs-of-homozygosity-in-jewish-populations
#4
Jonathan T L Kang, Amy Goldberg, Michael D Edge, Doron M Behar, Noah A Rosenberg
OBJECTIVES: Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations. We study runs of homozygosity (ROH) in 18 Jewish populations, examining these groups in relation to 123 non-Jewish populations sampled worldwide. METHODS: By sorting ROH into 3 length classes (short, intermediate, and long), we evaluate the impact of demographic processes on genomic patterns in Jewish populations...
September 15, 2017: Human Heredity
https://www.readbyqxmd.com/read/28903662/looking-backward-to-move-forward-effects-of-acknowledgment-of-victimhood-on-readiness-to-compromise-for-peace-in-the-protracted-israeli-palestinian-conflict
#5
Boaz Hameiri, Arie Nadler
Two large-scale surveys conducted in Israel (Study 1A) and the Palestinian Authority (Study 1B) show that the belief by group members that people in the "enemy" group acknowledge their victimhood (i.e., Holocaust and Nakba for Jews and Palestinians, respectively) is associated with Israeli-Jews' readiness to accept responsibility for Palestinian sufferings and offer apologies. For Palestinians, this belief is linked to a perceived higher likelihood of a reconciled future with Israelis. Three field experiments demonstrate that a manipulated high level of acknowledgment of Jewish victimhood by Palestinians (Studies 2 and 4) and of Palestinian victimhood by Israeli-Jews (Study 3) caused greater readiness to make concessions for the sake of peace on divisive issues (e...
April 2017: Personality & Social Psychology Bulletin
https://www.readbyqxmd.com/read/28903651/for-the-sake-of-the-eternal-group-perceiving-the-group-as-trans-generational-and-endurance-of-ingroup-suffering
#6
Dennis T Kahn, Yechiel Klar, Sonia Roccas
We introduce the distinction between perceiving the group as Intra-Generational (IG; including only the present generation of group members) and Trans-Generational (TG; including all past, present, and future generations of the group). In four studies ( N = 1,265) administered to Jewish Israeli, Palestinian Israeli, American, and Swedish samples, we demonstrate that a tendency to perceive the group as TG is related to willingness to endure ingroup suffering and that this relationship is mediated by the degree to which the interest of the group as a whole is given primacy over the interest of the group as a collection of group members (Primacy of Interest)...
February 2017: Personality & Social Psychology Bulletin
https://www.readbyqxmd.com/read/28902054/ethical-issues-with-genetic-testing-for-tay-sachs
#7
Tricia Clayton
Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.
October 2017: Journal of Christian Nursing: a Quarterly Publication of Nurses Christian Fellowship
https://www.readbyqxmd.com/read/28901875/michael-a-grodin-ed-jewish-medical-resistance-in-the-holocaust-oxford-and-new%C3%A2-york-berghahn-books-2014-2017-pp-%C3%A2-328-%C3%A2-21-00-paperback-isbn-%C3%A2-978-1-78533-348-4-e-book-eisbn-978-1-78238-418-2
#8
https://www.readbyqxmd.com/read/28900019/the-human-salivary-microbiome-is-shaped-by-shared-environment-rather-than-genetics-evidence-from-a-large-family-of-closely-related-individuals
#9
Liam Shaw, Andre L R Ribeiro, Adam P Levine, Nikolas Pontikos, Francois Balloux, Anthony W Segal, Adam P Roberts, Andrew M Smith
The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa...
September 12, 2017: MBio
https://www.readbyqxmd.com/read/28899110/unpleasant-business-rat-jew-payment-and-covenant-in-freud-s-rat-man
#10
Annie Atura
Freud's repression of Judaism and its cultural markers from the published "Rat Man" case history has been noted but never satisfactorily explained. This elision can be interpreted using Freud's suggestion that the paradigmatic "rat" represents (among other things) a circumcised penis marking an intergenerational, covenantal exchange. When read against the case study as originally published, Freud's process notes for the Rat Man's treatment (the only set of such notes on a published case that Freud didn't destroy) suggest that Freud chose to sanitize the published version of explicitly Jewish content, thus repeating a pattern of absence as a marker of debt...
April 2017: Journal of the American Psychoanalytic Association
https://www.readbyqxmd.com/read/28898743/qsofa-score-predictive-validity-in-enterobacteriaceae-bloodstream-infections
#11
Jason P Burnham, Marin H Kollef
PURPOSE: To determine whether the quick Sequential Organ Failure Assessment (qSOFA) retains predictive validity in patients with Enterobacteriaceae sepsis that all received appropriate initial antimicrobial therapy. MATERIALS AND METHODS: Retrospective cohort at Barnes-Jewish Hospital including individuals with Enterobacteriaceae sepsis receiving appropriate initial antimicrobial therapy between 6/2009-12/2013. Outcomes were compared according to qSOFA score and sepsis classification...
September 6, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28892950/riley-day-syndrome-in-a-hispanic-infant-of-non-jewish-ashkenazi-descent
#12
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28886227/lung-transplantation-in-cystic-fibrosis-patients-in-israel-the-importance-of-ethnicity-and-nutritional-status
#13
Hagit Levine, Dario Prais, Yael Raviv, Victorya Rusanov, Dror Rosengarten, Milton Saute, Moshe Hoshen, Huda Mussaffi, Hannah Blau, Mordechai R Kramer
OBJECTIVES: To assess the characteristics that correlate with better outcomes after lung transplantation for patients with cystic fibrosis (CF). METHODS: We retrospectively reviewed the charts of all patients with CF who underwent lung transplantation between 1996-2014 at Rabin Medical Center, Israel. RESULTS: Fifty patients with CF underwent 55 lung transplantations. Eighteen patients (36%) died during the study period. Actuarial survival was 83%, 68%, 62% and 39% at 1, 3, 5 and 10 years, respectively...
September 8, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28884418/altruism-and-religion-a-new-paradigm-for-organ-donation
#14
Aviad Rabinowich, Alan Jotkowitz
Activity of NGO's supporting living donor kidney donations can affect the shortage of kidneys. Matnat Chaim is a Jewish orthodox organization active in Israel since 2009. This is a voluntary organization with aims to shorten and eliminate the waiting list for kidneys. Since the beginning of its activity, it has said to play a key role in 379 kidney transplantations. In 2015, out of 174 live donor kidney transplantations that took place in Israel, Matnat Chaim had a key role in 88 of them (50.6%). We found some ethical issues concerning the organization's activity...
September 7, 2017: Journal of Religion and Health
https://www.readbyqxmd.com/read/28880805/a-prospective-one-year-microbiologic-survey-of-combined-pneumonia-and-respiratory-failure
#15
Kristen Fisher, Tracy Trupka, Scott T Micek, Paul Juang, Marin H Kollef
BACKGROUND: Pneumonia and respiratory failure are common problems in the intensive care unit (ICU) setting, often occurring together. The relative prevalence of pneumonia types (community acquired, hospital acquired, ventilator associated) and causative pathogens is not well described in patients with respiratory failure. METHODS: This was a prospective observational cohort study conducted in the medical ICU (34 beds) of Barnes-Jewish Hospital, an academic referral center of 1,300 beds from January 2016-December 2016...
September 7, 2017: Surgical Infections
https://www.readbyqxmd.com/read/28875409/disorganization-theory-neighborhood-social-capital-and-ethnic-inequalities-in-intimate-partner-violence-between-arab-and-jewish-women-citizens-of-israel
#16
Nihaya Daoud, Ruslan Sergienko, Patricia O'Campo, Ilana Shoham-Vardi
We draw on social disorganization (SD) theory and social capital to examine the impact of neighborhood environment on the ethnic gap in intimate partner violence (IPV) between Arab and Jewish women in Israel. We linked census data on neighborhood socioeconomic status (SES) to national data we gathered in 2014-2015 on 1401 women (436 Arab, 965 Jewish) age 16-48. Women were interviewed while visiting 65 maternal and child health clinics throughout Israel. We used General Estimated Equation (GEE) multivariate logistic regression models to adjust for clinic cluster effects and estimated the contribution of neighborhood collective efficacy, problems, relative socioeconomic status (SES), bridging and linking social capital, and social support to explaining ethnic inequalities in IPV, while adjusting for women's socioeconomic and socio-demographic characteristics...
September 5, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/28865469/comics-as-an-educational-tool-for-children-with-juvenile-idiopathic-arthritis
#17
Amir Mendelson, Noa Rabinowicz, Yonit Reis, Gil Amarilyo, Liora Harel, Philip J Hashkes, Yosef Uziel
BACKGROUND: This study examined whether the comic book Neta and the Medikidz Explain JIA would improve disease-related knowledge and treatment adherence among patients with juvenile idiopathic arthritis (JIA). METHODS: In this prospective cohort study, JIA patients answered 20 multiple-choice knowledge questions about their disease, before and after reading the comic book. Demographic, clinical, health-related quality of life and adherence data were recorded and correlated to the responses...
September 2, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28855964/youth-in-the-midst-of-escalated-political-violence-sense-of-coherence-and-hope-among-jewish-and-bedouin-arab-adolescents
#18
Sarah Abu-Kaf, Orna Braun-Lewensohn, Tehila Kalagy
BACKGROUND: During stressful events, individuals (particularly adolescents) from minority groups are often more vulnerable to distress. This claim will be examined in terms of coping resources and stress reactions to escalated political violence. This study aimed to compare coping resources and stress reactions among adolescents from two ethnic groups in southern Israel-Jews and Bedouin Arabs-during a period of escalated political violence (November 2012). The Bedouin Arab group is the ethnic minority of the sample and thus may be more at risk compared to the Jewish group...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28842758/utility-of-strain-typing-of-propionibacterium-acnes-in-central-nervous-system-and-prosthetic-joint-infections-to-differentiate-contamination-from-infection-a-retrospective-cohort
#19
J P Burnham, A Shupe, C-A D Burnham, D K Warren
The study aimed to retrospectively assess if strain typing of Propionibacterium acnes could help to distinguish between infection and contamination in isolates recovered from the central nervous system (CNS) and prosthetic joints (PJs). This was a retrospective cohort of all Propionibacterium species isolates from the Barnes-Jewish Hospital (St Louis, MO, USA) clinical microbiology laboratory from 2011 to 2014. Available frozen isolates were recovered, and strain type (IA-1, IA-2, IB, II, III, or nontypeable class A or B) was determined via polymerase chain reaction (PCR)-based methods...
August 25, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28837078/whole-genome-sequencing-revealed-mutations-in-two-independent-genes-as-the-underlying-cause-of-retinal-degeneration-in-an-ashkenazi-jewish-pedigree
#20
Kevin Gustafson, Jacque L Duncan, Pooja Biswas, Angel Soto-Hermida, Hiroko Matsui, David Jakubosky, John Suk, Amalio Telenti, Kelly A Frazer, Radha Ayyagari
Retinitis pigmentosa (RP) causes progressive photoreceptor loss resulting from mutations in over 80 genes. This study identified the genetic cause of RP in three members of a non-consanguineous pedigree. Detailed ophthalmic evaluation was performed in the three affected family members. Whole exome sequencing (WES) and whole genome sequencing (WGS) were performed in the three affected and the two unaffected family members and variants were filtered to detect rare, potentially deleterious variants segregating with disease...
August 24, 2017: Genes
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