Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

PubMed Central

Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez‐Sasso, Diego; Giraldo, Pilar; Goker‐Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D.

2017-01-01

Abstract The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long‐term effectiveness of velaglucerase alfa and other GD‐related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype‐confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD‐specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease. PMID:29090476

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

PubMed

Zimran, Ari; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez-Sasso, Diego; Giraldo, Pilar; Goker-Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D

2018-02-01

The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long-term effectiveness of velaglucerase alfa and other GD-related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype-confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD-specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease. © 2017 The Authors American Journal of Hematology Published by Wiley Periodicals, Inc.

Munchausen syndrome by proxy mimicking as Gaucher disease.

PubMed

Al-Owain, Mohammed; Al-Zaidan, Hamad; Al-Hashem, Amal; Kattan, Hoda; Al-Dowaish, Abdullah

2010-08-01

Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hematological and immunological investigations revealed no cause. beta-Glucosylceramidase enzyme activity on dried blood spot was suggestive of Gaucher disease. However, the enzyme level on cultured skin fibroblast was not consistent with Gaucher disease. The first hint about MBP was the recurrent sepsis with numerous gram negative rods. Furthermore, the mother's behavior and health history raised our suspicion about MBP. The child showed significant improvement after she was separated from the mother for a week. Finally, the mother confessed that she was spitting in local herbs and injecting it into the central line. This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease.

Gaucher Disease in Pregnancy

MedlinePlus

... You may also have new symptoms start during pregnancy. Women with Gaucher disease are at an increased risk ... blood platelet count, which can affect clotting) in pregnancy. Women with severe thrombocytopenia and/or clotting abnormalities could ...

Juvenile Gaucher disease simulating osteomyelitis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Miller, J.H.; Ortega, J.A.; Heisel, M.A.

1981-10-01

A case in which several imaging procedures suggested juvenile Gaucher disease in a child who presented with symptomatology of osteomyelitis is discussed. The 20-month girl was given a Technetium-99m radionuclide skeletal examination which revealed intense uptake of tracer agents along the shaft of the right femur. It was also found that the liver and spleen were dramatically Ga-67 avid. The bone pain symptomatology suggested an osteomyelitis of the femur, but skeletal scintigraphy with Tc-99m-labeled bone tracer demonstrated photopenic areas involving the femur, suggesting that the bone pain may have been due to marrow packed with Gaucher cells. This overexpansion ofmore » the marrow may lead to microfractures with remodeling seen radiographically as periosteal new bone and scintigraphically as increased periosteal deposition of tracer agent. The radiogallium study was useful to exclude an underlying osteomyelitis in the involved femurs. Although juvenile Gaucher disease is unusual, it should be considered in any child who presents with the constellation of hepatosplenomegaly and bone pain simulating osteomyelitis.« less

[Gaucher disease--guidelines for diagnosis and management of adult patients].

PubMed

Merkler, Marijan; Simić, Iveta; Pećin, Ivan; Muacević-Katanec, Diana; Sucur, Nediljko; Reiner, Zeljko

2014-01-01

Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are hepatosplenomegaly, bone involvement, hematological changes and CNS involvement. The diagnosis of Gaucher disease has to be confirmed by the measurement of the activity of the enzyme glucocerebrosidase in leukocytes or fibroblasts and genetic testing. An effective therapy for Gaucher disease has now been available for more than 10 years. It consists of life-long intravenous replacement of the deficient enzyme--glucocerebrosidase. If enzyme replacement therapy is started early enough, it leads to significant improvement in patient's general condition and quality of life. The aim of this document is to provide to the Croatian medical audience the guidelines for diagnosis and management of adult patients with Gaucher disease. These guidelines are produced by specialists who have long lasting experience with patients with rare metabolic diseases working in the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is the Referral Center for Rare and Metabolic diseases of the Ministry of Health, Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association. These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Gaucher disease.

Mild thrombocytopenia as presenting symptom of type 1 Gauchers's disease.

PubMed

Müzes, G; Pitlik, E; Somogyi, A; Tulassay, Z

2001-06-01

A young woman was examined for a mild thrombocytopenia which was present for some months. No signs of bleeding had so far occurred. Physical examination was normal except for a moderately enlarged spleen. Laboratory investigations showed a low platelet count. There was no evidence of an autoimmune or hematologic disease. Bone narrow aspirate indicated Gaucher's-like cells raising the suspicion of Gaucher's disease. This was further supported by electron microscopic demonstration of Gaucher's bodies in crista biopsy specimens. However, the definitive diagnosis was obtained by verifying deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes. Upon the absence of neurologic involvement the patient was typical for the adult-onset or type 1 form of Gaucher's disease.

Gaucher disease: clinical profile and therapeutic developments.

PubMed

Cox, Timothy M

2010-12-06

Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the development of orphan drugs. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and viscera. While several aspects of Gaucher disease (particularly those affecting the skeleton and brain) are refractory to treatment, enzyme (replacement) therapy has become a pharmaceutical blockbuster. Human β-glucocerebrosidase was originally obtained from placenta and the Genzyme Corporation (Allston, MA) subsequently developed a recombinant product. After purification, the enzyme is modified to reveal terminal mannose residues which facilitate selective uptake of the protein, imiglucerase (Cerezyme(®)), in macrophage-rich tissues. The unprecedented success of Cerezyme has attracted fierce competition: two biosimilar agents, velaglucerase-alfa, VPRIV(®) (Shire Human Genetic Therapies, Dublin, Ireland) and taliglucerase-alfa (Protalix, Carmiel, Israel), are now approved or in late-phase clinical development as potential 'niche busters'. Oral treatments have advantages over biological agents for disorders requiring lifelong therapy and additional stratagems which utilize small, orally active molecules have been introduced; these include two chemically distinct compounds which inhibit uridine diphosphate glucose: N-acylsphingosine glucosyltransferase, the first step in the biosynthesis of glucosylceramide - a key molecular target in Gaucher disease and other glycosphingolipidoses. Academic and commercial enterprises in biotechnology have combined strategically to expand the therapeutic repertoire in Gaucher disease. The innovative potential of orphan drug legislation has been realized - with prodigious rewards for companies embracing its humanitarian precepts. In the era

Gaucher disease: clinical profile and therapeutic developments

PubMed Central

Cox, Timothy M

2010-01-01

Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the development of orphan drugs. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and viscera. While several aspects of Gaucher disease (particularly those affecting the skeleton and brain) are refractory to treatment, enzyme (replacement) therapy has become a pharmaceutical blockbuster. Human β-glucocerebrosidase was originally obtained from placenta and the Genzyme Corporation (Allston, MA) subsequently developed a recombinant product. After purification, the enzyme is modified to reveal terminal mannose residues which facilitate selective uptake of the protein, imiglucerase (Cerezyme®), in macrophage-rich tissues. The unprecedented success of Cerezyme has attracted fierce competition: two biosimilar agents, velaglucerase-alfa, VPRIV® (Shire Human Genetic Therapies, Dublin, Ireland) and taliglucerase-alfa (Protalix, Carmiel, Israel), are now approved or in late-phase clinical development as potential ‘niche busters’. Oral treatments have advantages over biological agents for disorders requiring lifelong therapy and additional stratagems which utilize small, orally active molecules have been introduced; these include two chemically distinct compounds which inhibit uridine diphosphate glucose: N-acylsphingosine glucosyltransferase, the first step in the biosynthesis of glucosylceramide – a key molecular target in Gaucher disease and other glycosphingolipidoses. Academic and commercial enterprises in biotechnology have combined strategically to expand the therapeutic repertoire in Gaucher disease. The innovative potential of orphan drug legislation has been realized – with prodigious rewards for companies embracing its humanitarian precepts. In the

Gaucher disease and other storage disorders.

PubMed

Grabowski, Gregory A

2012-01-01

In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease. As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus for the expansion of similar research and therapeutic developments for other lysosomal storage diseases (LSDs) and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Continuing studies of such LSDs, which occur as a group in more than 7000 live births, have revealed the complex molecular interdigitation with the autophagy and apoptotic pathways and proteostasis and the impact of disruptions of the lysosomal/autophagy and proteostasis systems on more common diseases has been recognized. Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, Fabry disease), and Nonalcoholic Fatty Liver Disease/Nonalcoholic SteatoHepatitis (NAFLD/NASH) and atherosclerosis (eg, lysosomal acid lipase deficiencies). Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice.

Involvement of Gaucher Disease Mutations in Parkinson Disease.

PubMed

Vilageliu, Lluisa; Grinberg, Daniel

2017-01-01

Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of Gaucher disease patients and heterozygote carriers that developed Parkinson disease has been found to be above that of the control population. This fact suggests that mutations in the GBA gene can be involved in Parkison's etiology. Analysis of large cohorts of patients with Parkinson disease has shown that there are significantly more cases bearing GBA mutations than those found among healthy individuals. Functional studies have proven an interaction between α-synuclein and GBA, the levels of which presented an inverse correlation. Mutant GBA proteins cause increases in α-synuclein levels, while an inhibition of GBA by α-synuclein has been also demonstrated. Saposin C, a coactivator of GBA, has been shown to protect GBA from this inhibition. Among the GBA variants associated with Parkinson disease, E326K seems to be one of the most prevalent. Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation. Structural analyses have revealed that both residues (E326 and L444) interact with Saposin C and, probably, also with α-synuclein. This could explain the antagonistic role of these two proteins in relation to GBA. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Molecular characterization of infants with type 2 Gaucher disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stubblefield, B.; Martin, B.M.; Ginns, E.I.

1994-09-01

Type 2 (acute neuronopathic) Gaucher disease was previously thought to be stereotypic in presentation with neurologic deterioration and death by age 2-3 years. However, the generation of a null allele knock-out Gaucher mouse led to the recognition of a subset of type 2 patients who die as neonates. To better understand this subgroup we studied DNA, RNA and residual enzyme activity in fibroblasts from neonatal type 2 Gaucher patients, {open_quotes}classic{close_quotes} type 2 patients, type 1 and type 3 patients and normal individuals. Mutational analysis revealed genotypic heterogeneity in each group. One patient with severe neonatal Gaucher disease and hydrops fetalismore » was homoallelic for a complex allele including mutations L44P, A456P and V460V, while others had different or unknown alleles. Northern blots demonstrated that transcription was intact even in the neonatal lethal patients. However, the more severe type 2 patients had virtually no protein on Western, indicating that the transcript is either not appropriately translated or results in an unstable protein. Thus type 2 Gaucher disease exhibits more phenotypic, genotypic and biochemical heterogeneity than previously appreciated.« less

Gaucher disease: A G[sup +1][yields]A[sup +1] IVS2 splice donor site mutation causing exon 2 skipping in the acid [beta]-glucosidase mRNA

DOE Office of Scientific and Technical Information (OSTI.GOV)

He, Guo-Shun; Grabowski, G.A.

1992-10-01

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent Jewish genetic disease. About 30 identified missense mutations are causal to the defective activity of acid [beta]-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-years-old, enzyme-deficient, 1226G (Asn[sup 370][yields]Ser [N370S]) homozygous grandfather was nearly asymptomatic. Sequence analyses revealed four populations of cDNAs with either the 1226G mutation, an exact exon 2 ([Delta] EX2) deletion, a deletion of exon 2 and the first 115 bp of exon 3 ([Delta] EX2-3), or a completely normal sequence. Aboutmore » 50% of the cDNAs were the [Delta] EX2, the [Delta] EX2-3, and the normal cDNAs, in a ratio of 6:3:1. Specific amplification and characterization of exon 2 and 5[prime] and 3[prime] intronic flanking sequences from the structural gene demonstrated clones with either the normal sequence or with a G[sup +1][yields]A[sup +1] transition at the exon 2/intron 2 boundary. This mutation destroyed the splice donor consensus site (U1 binding site) for mRNA processing. This transition also was present at the corresponding exon/intron boundary of the highly homologous pseudogene. This new mutation, termed [open quotes]IVS2 G[sup +1],[close quotes] is the first in the Ashkenazi Jewish population. The occurrence of this [open quotes]pseudogene[close quotes]-type mutation in the structural gene indicates the role of acid [beta]-glucosidase pseudogene and structural gene rearrangements in the pathogenesis of this disease. 33 refs., 8 figs., 1 tab.« less

Clinical manifestations and management of Gaucher disease.

PubMed

Linari, Silvia; Castaman, Giancarlo

2015-01-01

Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anaemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities (osteopenia, lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) are typical manifestations of the most prevalent form of the disease, the so-called non-neuronopathic type 1. However, severity and coexistence of different symptoms are highly variable. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed to symptom relief, general improvement of quality of life, and prevention of irreversible damage.

T cell numbers relate to bone involvement in Gaucher disease.

PubMed

Lacerda, L; Arosa, F A; Lacerda, R; Cabeda, J; Porto, G; Amaral, O; Fortuna, A; Pinto, R; Oliveira, P; McLaren, C E; Sá Miranda, C; de Sousa, M

1999-04-01

The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease.

Gaucher's disease with myocardial involvement in pregnancy.

PubMed

Torloni, Maria Regina; Franco, Kátia; Sass, Nelson

2002-05-02

Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions. Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed.

[Diagnosis and treatment of Gaucher disease in Croatia].

PubMed

Mrsić, Mirando

2007-05-01

Gaucher disease is the most common lysosomal storage disorder. Incidence of disease is around 1:40-60,000 inhabitants and it is assuming that in Croatia we have 20-30 patients with Morbus Gaucher. Morbus Gaucher is recognized in three types. Type I or so called non-neuropatic from is most common in Europe while so called neuropatic forms (type II and III) are much rare (5-10%). Type II and III are characterized by central nervous system involvement and usually are diagnosed in childhood. Disease manifestations are observed in various human organs. The most common disease features are involved liver, spleen, bones, lungs and brain. Enzyme replacement therapy with imiglucerase (Cerezyme) is now day's therapeutic gold standard. Imiglucerase prevents progressive manifestation of disease and patients have normal life. Cost of the treatment is high due to the cost of the recombinant technology which was used to product imiglucerase. The cost of the enzyme replacement therapy is 150-200,000 EUR per year for imiglucerase in a typical adult patient. Because of high cost for the patient treatment Ministry of Health of Republic of Croatia, and Croatian Health Insurance Company in year 2002. established a special program for so called "Expensive drug treatment". This program covering treatment costs for patients with inherited metabolic disorders, adenosine deaminase deficiency, chronic myeloid leukemia, AIDS, multiple sclerosis, juvenile arthritis and ovarian cancer. Until now 11 adult patients and 2 children with Gaucher disease were diagnosed in Croatia and all are on enzyme replacement therapy with imiglucerase. According to our experience administration of imiglucerase decreased spleen and liver size and number of bone pain crisis as well as normalization of platelet and red blood cells. Administration of the imiglucerase do no revert bone changes e.g. avascular hip necrosis or vertebra collapses, but prevent further bone deterioration. According to this, treatment with

Gaucher's disease in a black child in South Africa. A case report.

PubMed

Patel, R; MacDougall, L G

1984-09-01

A 7-year-old Black boy presented with massive splenomegaly and a tendency to haemorrhage due to type 1 Gaucher's disease. After splenectomy he became asymptomatic and the haematological parameters returned to normal. Although type 1 Gaucher's disease has been described in adult Blacks, it has not been reported previously in a Black child in southern Africa.

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

PubMed

Xu, You-hai; Xu, Kui; Sun, Ying; Liou, Benjamin; Quinn, Brian; Li, Rong-hua; Xue, Ling; Zhang, Wujuan; Setchell, Kenneth D R; Witte, David; Grabowski, Gregory A

2014-08-01

Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and genetic studies implicate a pathogenic link between Gaucher and neurodegenerative diseases. The aggregation and inclusion bodies of α-synuclein with ubiquitin are present in the brains of Gaucher disease patients and mouse models. Indirect evidence of β-amyloid pathology promoting α-synuclein fibrillation supports these pathogenic proteins as a common feature in neurodegenerative diseases. Here, multiple proteins are implicated in the pathogenesis of chronic neuronopathic Gaucher disease (nGD). Immunohistochemical and biochemical analyses showed significant amounts of β-amyloid and amyloid precursor protein (APP) aggregates in the cortex, hippocampus, stratum and substantia nigra of the nGD mice. APP aggregates were in neuronal cells and colocalized with α-synuclein signals. A majority of APP co-localized with the mitochondrial markers TOM40 and Cox IV; a small portion co-localized with the autophagy proteins, P62/LC3, and the lysosomal marker, LAMP1. In cultured wild-type brain cortical neural cells, the GCase-irreversible inhibitor, conduritol B epoxide (CBE), reproduced the APP/α-synuclein aggregation and the accumulation of GC/GS. Ultrastructural studies showed numerous larger-sized and electron-dense mitochondria in nGD cerebral cortical neural cells. Significant reductions of mitochondrial adenosine triphosphate production and oxygen consumption (28-40%) were detected in nGD brains and in CBE-treated neural cells. These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD. © The Author 2014. Published by Oxford University

Enzyme replacement and substrate reduction therapy for Gaucher disease.

PubMed

Shemesh, Elad; Deroma, Laura; Bembi, Bruno; Deegan, Patrick; Hollak, Carla; Weinreb, Neal J; Cox, Timothy M

2015-03-27

Gaucher disease, a rare disorder, is caused by inherited deficiency of the enzyme glucocerebrosidase. It is unique among the ultra-orphan disorders in that four treatments are currently approved by various regulatory authorities for use in routine clinical practice. Hitherto, because of the relatively few people affected worldwide, many of whom started therapy during a prolonged period when there were essentially no alternatives to imiglucerase, these treatments have not been systematically evaluated in studies such as randomized controlled trials now considered necessary to generate the highest level of clinical evidence. To summarize all available randomized controlled study data on the efficacy and safety of enzyme replacement therapies and substrate reduction therapy for treating Gaucher disease. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register. Additional searches were conducted on ClinicalTrials.gov for any ongoing studies with potential interim results, and through PubMed. We also searched the reference lists of relevant articles and reviews.Date of last search: 07 August 2014. All randomized and quasi-randomized controlled studies (including open-label studies and cross-over studies) assessing enzyme replacement therapy or substrate reduction therapy, or both, in all types of Gaucher disease were included. Two authors independently assessed the risk of bias in the included studies, and extracted relevant data. Of the 488 studies retrieved by the electronic searches, eight met the inclusion criteria and were analysed (300 participants). Response parameters were restricted to haemoglobin concentration, platelet count, spleen and liver volume and serum biomarkers (chitotriosidase and CCL18). Only one publication reported a 'low risk of bias' score in all parameters assessed, and all studies included were randomized.Four studies reported the responses to enzyme replacement therapy of previously

Gaucher disease: Physical, kinetic and immunologic investigations of human and canine acid. beta. -glucosidase

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fabbro, D.E.

1988-01-01

Kinetic and immunologic techniques were developed to investigate the nature of the acid {beta}-glucosidase ({beta}-Glc) defects which results in human and canine Gaucher disease (GD). Two new affinity columns, using the potent inhibitors of {beta}-Glc (N-alkyl-deoxynojirimycins) as affinity ligands, were synthesized and methods were developed to obtain homogeneous {beta}-Glc from normal human placenta. Polyclonal and monoclonal (representing 14 different epitopes from 18 clones) antibodies were produced to the pure normal {beta}-Glc. Monospecific polyclonal IgG and tritiated-bromo-conduritol B epoxide (({sup 3}H)Br-CBE), a specific covalent active site directed inhibitor of {beta}-Glc, were used to quantitate the functional catalytic sites in normal andmore » Type 1 Ashkenazi Jewish GD (AJGD) enzyme preparations: The k{sub cat} values for several new substrates with the mutant enzymes from spleen were about 1.5-fold less than the respective normal enzyme, indicating a nearly normal catalytic capacity of the mutant enzymes. Immunoblotting studies with polyclonal or several monoclonal antibodies indicated three molecular forms of {beta}-Glc (M{sub r} = 67,000, 62,000 to 65,000 and 58,000) in fibroblast extracts from normals and Type 1 AJGD patients. In comparison, only one form of cross-reacting immunologic material (CRIM) was detected in fibroblast extracts from Types 2 and 3 or several non-Jewish Type 1 GD patients.« less

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

PubMed Central

Scott, Stuart A.; Edelmann, Lisa; Liu, Liu; Luo, Minjie; Desnick, Robert J.; Kornreich, Ruth

2010-01-01

The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ~1 in 3.3 being a carrier for one disease and ~1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ~15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population. PMID:20672374

Evaluation of neopterin as a biomarker for the monitoring of Gaucher disease patients.

PubMed

Drugan, Cristina; Drugan, Tudor C; Miron, Nicolae; Grigorescu-Sido, Paula; Naşcu, Ioana; Cătană, Cristina

2016-07-01

Biomarker research is an important area of investigation in Gaucher disease, caused by an inherited deficiency of a lysosomal enzyme, glucocerebrosidase. We evaluated the usefulness of neopterin, as a novel biomarker reflecting chronic inflammation and immune system activation in Gaucher disease and analysed its evolution in response to enzyme replacement therapy (ERT). Circulating plasma neopterin levels in 31 patients with non-neuronopathic Gaucher disease were measured before and after the onset of ERT and were compared with those of 18 healthy controls. Plasma chitotriosidase activity was also monitored, as a reference biomarker, against which we evaluated the evolution of neopterin. Neopterin levels were significantly increased in treatment-naïve patients (mean 11.90 ± 5.82 nM) compared with controls (6.63 ± 5.59 nM, Mann-Whitney U test P = 0.001), but returned to normal levels (6.92 ± 4.66 nM) following ERT. Investigating the diagnostic value of neopterin by receiver operating characteristic analysis, we found a cut-off value of 7.613 nM that corresponds to an area under the curve of 0.780 and indicates a good discrimination capacity, with a sensitivity of 0.774 and a specificity of 0.778. Our results suggest that measurement of circulating neopterin may be considered as a novel test for the confirmation of diagnosis and monitoring of the efficacy of therapeutic intervention in Gaucher disease. Plasma neopterin levels reflect the global accumulation and activation of Gaucher cells and the extent of chronic immune activation in this disorder. Neopterin may be an alternative storage cell biomarker in Gaucher disease, especially in chitotriosidase-deficient patients.

Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice

PubMed Central

Dahl, Maria; Doyle, Alexander; Olsson, Karin; Månsson, Jan-Eric; Marques, André R A; Mirzaian, Mina; Aerts, Johannes M; Ehinger, Mats; Rothe, Michael; Modlich, Ute; Schambach, Axel; Karlsson, Stefan

2015-01-01

Gaucher disease is caused by an inherited deficiency of the enzyme glucosylceramidase. Due to the lack of a fully functional enzyme, there is progressive build-up of the lipid component glucosylceramide. Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopenias, and bone disease in patients. Gene therapy represents a future therapeutic option for patients unresponsive to enzyme replacement therapy and lacking a suitable bone marrow donor. By proof-of-principle experiments, we have previously demonstrated a reversal of symptoms in a murine disease model of type 1 Gaucher disease, using gammaretroviral vectors harboring strong viral promoters to drive glucosidase β-acid (GBA) gene expression. To investigate whether safer vectors can correct the enzyme deficiency, we utilized self-inactivating lentiviral vectors (SIN LVs) with the GBA gene under the control of human phosphoglycerate kinase (PGK) and CD68 promoter, respectively. Here, we report prevention of, as well as reversal of, manifest disease symptoms after lentiviral gene transfer. Glucosylceramidase activity above levels required for clearance of glucosylceramide from tissues resulted in reversal of splenomegaly, reduced Gaucher cell infiltration and a restoration of hematological parameters. These findings support the use of SIN-LVs with cellular promoters in future clinical gene therapy protocols for type 1 Gaucher disease. PMID:25655314

Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

PubMed

Puri, Ratna Dua; Kapoor, Seema; Kishnani, Priya S; Dalal, Ashwin; Gupta, Neerja; Muranjan, Mamta; Phadke, Shubha R; Sachdeva, Anupam; Verma, Ishwar C; Mistry, Pramod K

2018-02-15

Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD has paucity of information and optimal management guidelines for Indian patients. Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invited experts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed and the draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016 at the annual meeting of the Indian Academy of Medical Genetics. These guidelines are intended to serve as a standard framework for treating physicians and the health care systems for optimal management of Gaucher disease in India and to define unique needs of this patient population. Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequently experience diagnostic delays during which severe irreversible complications occur. Leucocyte acid b-glucosidase activity is mandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathic disease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved by early initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such as seizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein are for diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrence of the disease through genetic counseling and prenatal diagnosis is essential

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

PubMed Central

Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G.

2017-01-01

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat). PMID:28218669

Gaucher disease in the Afrikaner population of South Africa.

PubMed

Goldblatt, J; Beighton, P

1979-02-10

The chronic non-neuropathic form of Gaucher disease has been encountered in 10 individuals in the Afrikaner population of South Africa. The minimum prevalence in this community is 1 in 200 000 with a gene frequency of 0,0022, a heterozygote rate of 0,0044 and at least 9 000 clinically asymptomatic carriers of the abnormal gene. This gene must be present in about 1 in every 220 Afrikaners. The majority of previously reported patients have been Ashkenazi Jews, in whom the condition is relatively benign. By contrast, the disorder in the Afrikaners is precocious in onset, with serious complications and rapid progression. The occurrence of Gaucher disease in a relatively high frequency in the Afrikaner population is important in terms of differential diagnosis, genetic counselling and prevention.

Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

PubMed

Cook, Lola; Schulze, Jeanine

2017-12-01

There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.

PubMed

Colombo, R

2000-02-01

The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes.

Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data

PubMed Central

Colombo, Roberto

2000-01-01

Summary The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes. PMID:10677327

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

PubMed

Lefebvre, Thibaud; Reihani, Niloofar; Daher, Raed; de Villemeur, Thierry Billette; Belmatoug, Nadia; Rose, Christian; Colin-Aronovicz, Yves; Puy, Hervé; Le Van Kim, Caroline; Franco, Mélanie; Karim, Zoubida

2018-04-01

Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of "Gaucher cells". Anemia associated with an unexplained hyperferritinemia is a frequent finding in GD, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I GD patients, including 66 patients treated with enzyme replacement therapy. Ten of the patients treated with enzyme replacement were followed up before and during treatment. Serum levels of hepcidin, the iron regulatory peptide, remained within the physiological range, while the transferrin saturation was slightly decreased in children. Inflammation-independent hyperferritinemia was found in 65% of the patients, and Perl's staining of the spleen and marrow smear revealed iron accumulation in Gaucher cells. Treated patients exhibited reduced hyperferritinemia, increased transferrin saturation and transiently increased systemic hepcidin. In addition, the hepcidin and ferritin correlation was markedly improved, and, in most patients, the hemoglobin level was normalized. To further explore eventual iron sequestration in macrophages, we produce a Gaucher cells model by treating the J774 macrophage cell line with a glucocerebrosidase inhibitor and showed induced local hepcidin and membrane retrieval of the iron exporter, ferroportin. These data reveal the involvement of Gaucher cells in abnormal iron sequestration, which may explain the mechanism of hyperferritinemia in GD patients. Local hepcidin-ferroportin interaction was involved in this pathogenesis. Copyright© 2018 Ferrata Storti Foundation.

Use of various diagnostic methods in a patient with Gaucher disease type I.

PubMed

Farahati, J; Trenn, G; John-Mikolajewski, V; Zander, C; Pastores, G M; Sciuk, J; Reiners, C

1996-08-01

A series of plain radiographs, bone scans, bone marrow scans, and MRIs is reported in a patient with Gaucher disease type I, in whom two episodes of acute bone crisis developed during a 6-year period of follow-up. Acute bone crisis and global indolent bone marrow displacement could both be assessed by bone marrow scintigraphy, whereas MRI could better clarify the corti-comedullary alteration after bone infarction. Thus, MRI and bone marrow scintigraphy could be used as complementary imaging methods in the management of patients with Gaucher disease.

The 1448C mutation in Chinese with type 1 and 2 Gaucher disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tsai, F.J.; Tsai, C.H.

1994-09-01

Gaucher disease (GD) is the most common glycolipid storage disorder. Just 5 mutations account for over 97% of all the alleles that produce enzyme deficiency in the Ashkenazic Jewish population. However, GD occurs in all populations but with a much lower frequency, as is the case with other mutations that are common in a single ethnic group. To characterize the molecular basis of Chinese with GD, two cases of GD was analyzed (type 1 and type 2) by selective amplification and restriction endonuclease analysis. Homozygosity of this mutation seems to result in neuronopathic GD (type 2 or 3), but somemore » exceptional cases have been reported. Our results show that the existence of the 1448C mutation in Chinese patients is similar to that of other ethnic groups. In our case 2, who had a homozygotic 1448C mutation but without any CNS manifestation, type 1 GD was diagnosed. In view of the young age of the patient (11 year old), he may develop neurological disease later in life. We suggest that such a case should be followed to observe if any neurological sign becomes present. Patients with GD sharing identical genotypes can exhibit different phenotypic pictures. Thus one cannot rely solely on DNA mutation analysis to predict prognosis in GD. The Chinese mutation data of GD presented here can support this hypothesis.« less

Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: Implications for Gaucher disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tayebi, N.; Cushner, S.; Sidransky, E.

1996-09-01

We describe the use of long-template PCR to differentiate the glucocerebrosidase gene from its pseudogene, which will simplify molecular diagnostic testing and the detection of known and new mutations in patients with Gaucher disease. Gaucher disease results from the inherited deficiency of the lysosomal enzyme, glucocerebrosidase. Sixteen kilobases downstream of the glucocerebrosidase gene is a pseudogene, which is {approximately}2 kb shorter and has >96% identity to the coding regions of the functional gene. Many mutations encountered in Gaucher patients are identical to sequences ordinarily found only in the pseudogene, and some result from recombination between the gene and pseudogene. Thus,more » for diagnostic purposes it is essential to differentiate between sequences from the gene and pseudogene. 9 refs., 1 fig.« less

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

PubMed

Mehta, Atul; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Göker-Alpan, Özlem; Lukina, Elena; Mengel, Eugen; Nakamura, Kimitoshi; Pastores, Gregory M; Pérez-López, Jordi; Schwartz, Ida; Serratrice, Christine; Szer, Jeffrey; Zimran, Ari; Di Rocco, Maja; Panahloo, Zoya; Kuter, David J; Hughes, Derralynn

2017-11-01

Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis. The two surveys reported herein aimed to explore the patient journey to diagnosis of GD from the perspectives of Gaucher expert physicians and patients. Findings from the surveys revealed that many patients experienced diagnostic delays and misdiagnoses, with nearly 1 in 6 patients stating that they were not diagnosed with GD for 7years or more after first consulting a doctor. Physicians and patients both reported multiple referrals to different specialties before a diagnosis of GD was obtained, with primary care, haematology/haematology-oncology and paediatrics the main specialties to which patients first presented. Splenomegaly, thrombocytopenia, anaemia and bone pain were reported as the most common medical problems at first presentation in both surveys. These findings support a clear need for straightforward and easy-to-follow guidance designed to assist non-specialists to identify earlier patients who are at risk of GD. Copyright © 2017 The Authors and Shire HGT Inc. Published by Elsevier Inc. All rights reserved.

Gaucher cell, photomicrograph (image)

MedlinePlus

Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is ...

Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.

PubMed

Bondar, Constanza; Ormazabal, Maximiliano; Crivaro, Andrea; Ferreyra-Compagnucci, Malena; Delpino, María Victoria; Rozenfeld, Paula Adriana; Mucci, Juan Marcos

2017-01-13

Gaucher disease (GD) is caused by mutations in the glucosylceramidase β ( GBA 1 ) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells, mainly in the monocyte/macrophage lineage. Its mildest form is Type I GD, characterized by non-neuronopathic involvement. Bone compromise is the most disabling aspect of the Gaucher disease. However, the pathophysiological aspects of skeletal alterations are not yet fully understood. The bone tissue homeostasis is maintained by a balance between resorption of old bone by osteoclasts and new bone formation by osteoblasts. A central player in this balance is the osteocyte as it controls both processes. We studied the involvement of osteocytes in an in vitro chemical model of Gaucher disease. The osteocyte cell line MLO-Y4 was exposed to conduritol-β-epoxide (CBE), an inhibitor of GCase, for a period of 7, 14 and 21 days. Conditioned media from CBE-treated osteocytes was found to induce osteoclast differentiation. GCase inhibition caused alterations in Cx43 expression and distribution pattern and an increase in osteocyte apoptosis. Osteoclast differentiation involved osteocyte apoptotic bodies, receptor activator of nuclear factor κ-B ligand (RANKL) and soluble factors. Thus, our results indicate that osteocytes may have a role to play in the bone pathophysiology of GD.

Gaucher disease epidemiology and natural history: a comprehensive review of the literature.

PubMed

Nalysnyk, Luba; Rotella, Philip; Simeone, Jason C; Hamed, Alaa; Weinreb, Neal

2017-03-01

The objectives of this research were: (1) to heighten awareness of Gaucher disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of organ involvement and disease severity, to clinicians most likely to encounter these patients, and; (2) to summarize the published evidence on GD epidemiology which is essential to accurately depict the total societal burden of this rare worldwide disorder. A comprehensive literature review was undertaken to summarize the published evidence on the epidemiology of GD. MEDLINE, EMBASE, CENTRAL, and 'grey' literature sources published in English between January 1990 and March 2015 were searched to identify relevant publications. In total, 188 full-text articles were reviewed and findings from 49 studies are summarized herein. The standardized birth incidence of GD in the general population varied from 0.39 to 5.80 per 100 000, and prevalence ranged from 0.70 to 1.75 per 100 000, respectively. Time from onset of GD symptoms to clinical diagnosis was highly variable, with median delays of up to 7 years reported. The incidence and prevalence of GD is substantially higher among the Ashkenazi Jewish population than the general population. Limited epidemiologic information was available from Latin America, Africa, Asia, and developed nations such as the United States, Germany, and the United Kingdom. Signs and symptoms of GD frequently mimic more common hematologic conditions resulting in missed or delayed diagnosis. Early diagnosis and prompt initiation of treatment when indicated is crucial to prevent or minimize life-altering or life-threatening liver and skeletal complications.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

PubMed Central

Batista, Julie L.; Andersson, Hans C.; Balwani, Manisha; Burrow, Thomas Andrew; Charrow, Joel; Kaplan, Paige; Khan, Aneal; Kishnani, Priya S.; Kolodny, Edwin H.; Rosenbloom, Barry; Scott, C. Ronald; Weinreb, Neal

2017-01-01

Abstract This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase‐treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry clinicaltrials.gov NCT00358943 were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991‐1995, 1996‐2000, 2001‐2005, 2006‐2009), and splenectomy status pre‐ERT. Prevalence of splenectomy decreased dramatically across the eras among all age groups. Bone manifestations were more prevalent in splenectomized patients than non‐splenectomized patients in all age groups. Prevalence of bone manifestations differed across eras in certain age groups: non‐splenectomized patients had a lower prevalence of ischemic bone events (pediatric patients) and bone crisis (pediatric patients and adults 18 to <50 years) in later eras; splenectomized adult (18 to <50 years) patients had a lower prevalence of ischemic bone events and bone crisis in later eras. Over two decades after the introduction of ERT, the prevalence of splenectomy and associated skeletal complications has declined dramatically. Concomitantly, the interval between diagnosis and initiation of ERT has decreased, most strikingly in pediatric patients who have the most severe disease. Together, these findings suggest that since the introduction of alglucerase/imiglucerase ERT, optimal standard of care has become established in the US to prevent destructive complications of GD1. PMID:28569047

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

PubMed Central

Westbroek, Wendy; Nguyen, Matthew; Siebert, Marina; Lindstrom, Taylor; Burnett, Robert A.; Aflaki, Elma; Jung, Olive; Tamargo, Rafael; Rodriguez-Gil, Jorge L.; Acosta, Walter; Hendrix, An; Behre, Bahafta; Tayebi, Nahid; Fujiwara, Hideji; Sidhu, Rohini; Renvoise, Benoit; Ginns, Edward I.; Dutra, Amalia; Pak, Evgenia; Cramer, Carole; Ory, Daniel S.; Pavan, William J.

2016-01-01

ABSTRACT Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. Mutations in GBA1 are also a common genetic risk factor for Parkinson disease and related synucleinopathies. In recent years, research on the pathophysiology of Gaucher disease, the molecular link between Gaucher and Parkinson disease, and novel therapeutics, have accelerated the need for relevant cell models with GBA1 mutations. Although induced pluripotent stem cells, primary rodent neurons, and transfected neuroblastoma cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1. To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease. We successfully immortalized cortical neurons from embryonic null allele gba−/− mice and the control littermate (gba+/+) by infecting differentiated primary cortical neurons in culture with an EF1α-SV40T lentivirus. Immortalized gba−/− neurons lack glucocerebrosidase protein and enzyme activity, and exhibit a dramatic increase in glucosylceramide and glucosylsphingosine accumulation, enlarged lysosomes, and an impaired ATP-dependent calcium-influx response; these phenotypical characteristics were absent in gba+/+ neurons. This null allele gba−/− mouse neuronal model provides a much-needed tool to study the pathophysiology of Gaucher disease and to evaluate new therapies. PMID:27482815

Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey.

PubMed

Deegan, P; Fernandez-Sasso, D; Giraldo, P; Lau, H; Panahloo, Z; Zimran, A

2018-02-01

The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. For insight into how GD management varies among countries, we analyzed treatment patterns in GOS. As of October 30, 2015, data on GD-specific treatment (enzyme replacement therapy, substrate reduction therapy, or chemical chaperone therapy) received at any time were available for 647 patients. At analysis, velaglucerase alfa (316/573, 55.1%) and imiglucerase (184/573, 32.1%) were the treatments most widely used. Of the 647 treated patients, 446 (68.9%) had been treated for >5years and 368 (56.9%) had received only one GD-specific drug therapy. There were 377 patients who received velaglucerase alfa. Velaglucerase alfa was most widely used at 60U/kg every other week (134/492 dose entries, 27.2%), but there were differences in dosing between the three highest-enrolling countries (defined as >100 GOS patients enrolled in each), with most patients in Israel receiving <20U/kg, most patients in the United Kingdom receiving 20 to <40U/kg, and most in the United States receiving 60U/kg. This analysis provides a foundation upon which to examine real-life outcomes data from different treatment regimens globally. Copyright © 2016 Shire Human Genetic Therapies, Inc. Published by Elsevier Inc. All rights reserved.

Gaucher cell, photomicrograph #2 (image)

MedlinePlus

Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is ...

Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.

PubMed

Grigorescu-Sido, Paula; Drugan, Cristina; Alkhzouz, Camelia; Zimmermann, Anca; Coldea, Cristina; Denes, Carmen; Grigorescu, Mircea Dan; Cret, Victoria; Bucerzan, Simona

2010-04-01

To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). There are fifty patients (F/M - 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter. Thirty-nine patients (78%) received imiglucerase (44.4+/-13.6 U/kg/2 weeks) for 3.1+/-1.4 years. Based on general prevalence data, our group represents 22.7% of the expected total number of patients with Gaucher disease type 1 in Romania. Mean age was 15.5 years at clinical onset and 28.9 years at confirmation of diagnosis. The genotype N370S/L444P was frequent in our group (35.9% of alleles). Anaemia, thrombocytopenia, splenomegaly and bone disease were present at 38%, 70%, 100% and 84%, respectively. Mean values for haemoglobin, thrombocytes, hepatic volume and chitotriosidase normalized after 0.5, 1.5, 2.5 and 3 years of ERT, respectively. Splenomegaly regressed from 14.4 x N (normal) to 3.06 x N over four years of treatment. Bone disease was ameliorated under ERT, yet bone mineral density worsened in patients treated with 30 U/kg/2 weeks. The genotype N370S/L444P is frequent in our patients, in line with the severe phenotypes. ERT improved haematological parameters and visceromegaly, without a clear benefit for bone mineral density. To attain therapeutic goals, an early treatment start with optimal dosage is mandatory. Copyright 2009 Elsevier B.V. All rights reserved.

Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease.

PubMed

Machaczka, M; Klimkowska, M; Hägglund, H

2012-06-01

Cutaneous leukocytoclastic vasculitis (CLV) is a necrotizing inflammation of the small vessels in the dermis. We report the case of a Swedish man with an untreated N370S/L444P Gaucher disease who developed CLV at the age of 79 years. The patient has been treated for CLV with topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years without improvement. Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®) because of progress of Gaucher disease resulted in a prompt and durable cure of the CLV.

Rosenak "Teaching Jewish Values"

ERIC Educational Resources Information Center

Resnick, David

2014-01-01

Rosenak's "Teaching Jewish Values" (1986) is perhaps his most accessible book about Jewish education. After diagnosing the "diseases" of Jewish education, he endorses "teaching Jewish values" as the curricular strategy most likely to succeed given the chasm which divides traditional Jewish subject matter and the…

Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations.

PubMed

Lee, Y S; Poh, L K; Ida, H; Loke, K Y

2001-04-01

We report the phenotype and genotype of an Indonesian Chinese boy with type II Gaucher disease. He had a unique presentation of recurrent cyanosis from laryngospasm. He was compound heterozygous for L444P/L444P + A456P + V460V. There have been few reports of this heterozygosity and its phenoptype. This genotype-phenotype correlation will be important for physicians in genetic counselling. Type II Gaucher disease in Southeast Asia may not be as rare as was perceived, but may be a condition that is under-reported. The success of our technique together with the results have made it possible for us to perform prenatal diagnosis and carrier detection for the family.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

PubMed

Oddoux, C; Guillen-Navarro, E; Ditivoli, C; Dicave, E; Cilio, M R; Clayton, C M; Nelson, H; Sarafoglou, K; McCain, N; Peretz, H; Seligsohn, U; Luzzatto, L; Nafa, K; Nardi, M; Karpatkin, M; Aksentijevich, I; Kastner, D; Axelrod, F; Ostrer, H

1999-12-01

The Roman Jewish community has been historically continuous in Rome since pre-Christian times and may have been progenitor to the Ashkenazi Jewish community. Despite a history of endogamy over the past 2000 yr, the historical record suggests that there was admixture with Ashkenazi and Sephardic Jews during the Middle Ages. To determine whether Roman and Ashkenazi Jews shared common signature mutations, we tested a group of 107 Roman Jews, representing 176 haploid sets of chromosomes. No mutations were found for Bloom syndrome, BRCA1, BRCA2, Canavan disease, Fanconi anemia complementation group C, or Tay-Sachs disease. Two unrelated individuals were positive for the 3849 + 10C->T cystic fibrosis mutation; one carried the N370S Gaucher disease mutation, and one carried the connexin 26 167delT mutation. Each of these was shown to be associated with the same haplotype of tightly linked microsatellite markers as that found among Ashkenazi Jews. In addition, 14 individuals had mutations in the familial Mediterranean fever gene and three unrelated individuals carried the factor XI type III mutation previously observed exclusively among Ashkenazi Jews. These findings suggest that the Gaucher, connexin 26, and familial Mediterranean fever mutations are over 2000 yr old, that the cystic fibrosis 3849 + 10kb C->T and factor XI type III mutations had a common origin in Ashkenazi and Roman Jews, and that other mutations prevalent among Ashkenazi Jews are of more recent origin.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

PubMed Central

Rivas, Manuel A.; Avila, Brandon E.; Koskela, Jukka; Stevens, Christine; Pirinen, Matti; Neale, Benjamin M.; Ganna, Andrea; Graham, Daniel; Glaser, Benjamin; Peter, Inga; Atzmon, Gil; Barzilai, Nir; Levine, Adam P.; Schiff, Elena; Weisburd, Ben; Lek, Monkol; Bloom, Jonathan; Minikel, Eric V.; Petersen, Britt-Sabina; Beaugerie, Laurent; Seksik, Philippe; Cosnes, Jacques; Schreiber, Stefan; Bokemeyer, Bernd; Bethge, Johannes; Ahmad, Tariq; Plagnol, Vincent; Segal, Anthony W.; Targan, Stephan; Turner, Dan; Saavalainen, Paivi; Farkkila, Martti; Kontula, Kimmo; Palotie, Aarno; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Weersma, Rinse K.; Franke, Andre; Jostins, Luke; Barrett, Jeffrey C.; MacArthur, Daniel G.; Jalas, Chaim; Sokol, Harry; Xavier, Ramnik J.; Pulver, Ann; Cho, Judy H.; McGovern, Dermot P. B.; Daly, Mark J.

2018-01-01

As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. Arising via a well-described founder effect approximately 30 generations ago, this catalog of enriched alleles can contribute to differences in genetic risk and overall prevalence of diseases between populations. As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10–100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). We next sought to use this catalog, of well-established relevance to Mendelian disease, to explore Crohn's disease, a common disease with an estimated two to four-fold excess prevalence in AJ. We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

PubMed

Regenboog, Martine; Bohte, Anneloes E; Akkerman, Erik M; Stoker, Jaap; Hollak, Carla E M

2017-11-01

Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz). Median R2* values were significantly elevated in GD1 patients as compared to healthy controls in liver [41 Hz (range 29-165) vs. 38 Hz (range 28-53), P < 0·01], femoral bone marrow [54 Hz (range 37-129) vs. 49 Hz (range 39-69), P = 0·036] and vertebral bone marrow (118 Hz (range 82-210) vs. 105 Hz (range 76-149), P < 0·01). In the spleen, primarily focal Gaucher lesions known as Gaucheroma were found to have increased R2* values. R2* values of liver, spleen and vertebral bone marrow strongly correlated with serum ferritin levels. GD1 patients with persistent hyperferritinaemia demonstrate increased iron levels in liver and bone marrow, which may carry a risk for liver fibrosis and cancer. © 2017 John Wiley & Sons Ltd.

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.

PubMed

Narita, Aya; Shirai, Kentarou; Kubota, Norika; Takayama, Rumiko; Takahashi, Yukitoshi; Onuki, Takanori; Numakura, Chikahiko; Kato, Mitsuhiro; Hamada, Yusuke; Sakai, Norio; Ohno, Atsuko; Asami, Maya; Matsushita, Shoko; Hayashi, Anri; Kumada, Tomohiro; Fujii, Tatsuya; Horino, Asako; Inoue, Takeshi; Kuki, Ichiro; Asakawa, Ken; Ishikawa, Hitoshi; Ohno, Koyo; Nishimura, Yoko; Tamasaki, Akiko; Maegaki, Yoshihiro; Ohno, Kousaku

2014-02-01

The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light-induced PLR was markedly impaired, whereas blue light-induced PLR was relatively spared. In addition, patients with non-neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD.

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation

PubMed Central

Yang, Chunzhang; Wang, Herui; Zhu, Dongwang; Hong, Christopher S.; Dmitriev, Pauline; Zhang, Chao; Li, Yan; Ikejiri, Barbara; Brady, Roscoe O.; Zhuang, Zhengping

2015-01-01

Gaucher disease is caused by mutations of the GBA1 gene, which encodes the lysosomal anchored gluococerebrosidase (GCase). GBA1 mutations commonly result in protein misfolding, abnormal chaperone recognition, and premature degradation, but are less likely to affect catalytic activity. In the present study, we demonstrate that the Hsp90/HOP/Cdc37 complex recruits Hsp27 after recognition of GCase mutants with subsequent targeting of GCase mutant peptides to degradation mechanisms such as VCP and the 26S proteasome. Inhibition of Hsp27 not only increased the quantity of enzyme but also enhanced GCase activity in fibroblasts derived from patients with Gaucher disease. These findings provide insight into a possible therapeutic strategy for protein misfolding diseases by correcting chaperone binding and altering subsequent downstream patterns of protein degradation. PMID:25583479

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.

PubMed

Yang, Chunzhang; Wang, Herui; Zhu, Dongwang; Hong, Christopher S; Dmitriev, Pauline; Zhang, Chao; Li, Yan; Ikejiri, Barbara; Brady, Roscoe O; Zhuang, Zhengping

2015-01-27

Gaucher disease is caused by mutations of the GBA1 gene, which encodes the lysosomal anchored gluococerebrosidase (GCase). GBA1 mutations commonly result in protein misfolding, abnormal chaperone recognition, and premature degradation, but are less likely to affect catalytic activity. In the present study, we demonstrate that the Hsp90/HOP/Cdc37 complex recruits Hsp27 after recognition of GCase mutants with subsequent targeting of GCase mutant peptides to degradation mechanisms such as VCP and the 26S proteasome. Inhibition of Hsp27 not only increased the quantity of enzyme but also enhanced GCase activity in fibroblasts derived from patients with Gaucher disease. These findings provide insight into a possible therapeutic strategy for protein misfolding diseases by correcting chaperone binding and altering subsequent downstream patterns of protein degradation.

Association Between Progranulin and Gaucher Disease.

PubMed

Jian, Jinlong; Zhao, Shuai; Tian, Qing-Yun; Liu, Helen; Zhao, Yunpeng; Chen, Wen-Chi; Grunig, Gabriele; Torres, Paola A; Wang, Betty C; Zeng, Bai; Pastores, Gregory; Tang, Wei; Sun, Ying; Grabowski, Gregory A; Kong, Max Xiangtian; Wang, Guilin; Chen, Ying; Liang, Fengxia; Overkleeft, Herman S; Saunders-Pullman, Rachel; Chan, Gerald L; Liu, Chuan-Ju

2016-09-01

Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced, and the genotyping of 4 SNPs identified in GD patients was performed in 161 GD and 142 healthy control samples. Development of GD in PGRN-deficient mice was characterized, and the therapeutic effect of rPGRN on GD analyzed. Serum PGRN levels were significantly lower in GD patients (96.65±53.45ng/ml) than those in healthy controls of the general population (164.99±43.16ng/ml, p<0.0001) and of Ashkenazi Jews (150.64±33.99ng/ml, p<0.0001). Four GRN gene SNPs, including rs4792937, rs78403836, rs850713, and rs5848, and three point mutations, were identified in a full-length GRN gene sequencing in 40 GD patients. Large scale SNP genotyping in 161 GD and 142 healthy controls was conducted and the four SNP sites have significantly higher frequency in GD patients. In addition, "aged" and challenged adult PGRN null mice develop GD-like phenotypes, including typical Gaucher-like cells in lung, spleen, and bone marrow. Moreover, lysosomes in PGRN KO mice exhibit a tubular-like appearance. PGRN is required for the lysosomal appearance of GCase and its deficiency leads to GCase accumulation in the cytoplasm. More importantly, recombinant PGRN is therapeutic in various animal models of GD and human fibroblasts from GD patients. Our data demonstrates an unknown association between PGRN and GD and identifies PGRN as an essential factor for GCase's lysosomal localization. These findings not only provide new insight into the pathogenesis of GD, but may also have implications for diagnosis and alternative targeted therapies for GD. Copyright © 2016 Forschungsgesellschaft für Arbeitsphysiologie und

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease

PubMed Central

Narita, Aya; Shirai, Kentarou; Kubota, Norika; Takayama, Rumiko; Takahashi, Yukitoshi; Onuki, Takanori; Numakura, Chikahiko; Kato, Mitsuhiro; Hamada, Yusuke; Sakai, Norio; Ohno, Atsuko; Asami, Maya; Matsushita, Shoko; Hayashi, Anri; Kumada, Tomohiro; Fujii, Tatsuya; Horino, Asako; Inoue, Takeshi; Kuki, Ichiro; Asakawa, Ken; Ishikawa, Hitoshi; Ohno, Koyo; Nishimura, Yoko; Tamasaki, Akiko; Maegaki, Yoshihiro; Ohno, Kousaku

2014-01-01

The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD. In our neuronopathic GD patients, red light-induced PLR was markedly impaired, whereas blue light-induced PLR was relatively spared. In addition, patients with non-neuronopathic GD showed no abnormalities. These novel findings show that chromatic pupillometry is a convenient method to detect neurological signs and monitor the course of disease in neuronopathic GD. PMID:25356393

Gaucher disease: the role of the specialist on metabolic bone diseases.

PubMed

Masi, Laura; Brandi, Maria Luisa

2015-01-01

According to European legislation, a disease can be considered rare or "orphan" when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible.

Gaucher disease: the role of the specialist on metabolic bone diseases

PubMed Central

Masi, Laura; Brandi, Maria Luisa

2015-01-01

Summary According to European legislation, a disease can be considered rare or “orphan” when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible. PMID:26604943

Imiglucerase in the treatment of Gaucher disease: a history and perspective

PubMed Central

Deegan, Patrick B; Cox, Timothy M

2012-01-01

The scientific and therapeutic development of imiglucerase (Cerezyme®) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in treatments for rare diseases by major pharmaceutical companies stems in large part from an exception among rarities: the astonishing commercial success of Cerezyme. The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ultra-orphan disorder: Gaucher disease. PMID:22563238

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.

PubMed

Lau, Heather; Belmatoug, Nadia; Deegan, Patrick; Goker-Alpan, Ozlem; Schwartz, Ida Vanessa D; Shankar, Suma P; Panahloo, Zoya; Zimran, Ari

2018-02-01

Gaucher disease (GD) may worsen during pregnancy, leading to the discussion of continuing treatment during pregnancy. We examined fetal outcomes of pregnancies reported in the Gaucher Outcome Survey, an international GD-specific registry established in 2010. A total of 453 pregnancies were reported. Most pregnancies (336/453, 74.2%) were in women who did not receive GD-specific treatment during pregnancy, while enzyme replacement therapy (ERT) was received during 117/453 (25.8%) pregnancies. No pregnancies exposed to substrate reduction therapy were reported. The percentage of normal outcomes (live birth delivered at term with no congenital abnormalities) was similar in untreated and treated pregnancies (92.9% vs. 91.4%). The percentage of spontaneous abortions in untreated pregnancies was 3.6% (95% CI, 1.9%- 6.2%) compared with 6.9% (95% CI, 3.0%-13.1%) in treated pregnancies (p=0.1866). In women who received velaglucerase alfa <1month prior to conception and/or during pregnancy, 34/36 (94.4%) pregnancies had normal outcomes and 2 (5.6%) ended in spontaneous abortion. Normal outcomes were observed in the 20 pregnancies with velaglucerase alfa exposure starting <1month prior to conception and continuing through all trimesters. These observations, in addition to information in the literature, suggest that continuation of ERT during pregnancy may be appropriate for GD patients. Copyright © 2016 Shire Human Genetic Therapies, Inc. Published by Elsevier Inc. All rights reserved.

Clinical and Phenotypic Differences in Inflammatory Bowel Disease Among Arab and Jewish Children in Israel.

PubMed

Rinawi, Firas; Assa, Amit; Bashir, Husam; Peleg, Sarit; Shamir, Raanan

2017-08-01

Data on inflammatory bowel disease (IBD) phenotypes among the Arab population in Israel or in the neighboring Arab countries is scarce. We aimed to assess differences in disease phenotype among Arab and Jewish children living in Israel. We performed a retrospective chart review of pediatric IBD cases, which were diagnosed at the Schneider Children's Medical Center and Ha'Emek Medical Center in Israel between 2000 and 2014. Demographic, clinical, and phenotypic variables were compared between Arabs and Jews from Eastern (Sephardic) and Western (Ashkenazi) origin. Seventy-one Arab children with IBD were compared with 165 Ashkenazi and 158 Sephardic Jewish children. Age and gender did not differ between groups. Sephardic and Ashkenazi Jewish Crohn's disease (CD) patients had significantly more stenotic behavior (24 and 26 vs. 5%, p = 0.03) and less fistulzing perianal disease (15 and 11 vs. 31%, p = 0.014) compared with Arab patients. Arab children with ulcerative colitis (UC) had more severe disease at diagnosis compared to Sephardic and Ashkenazi Jews reflected by higher Pediatric UC Activity Index (45 vs. 35 and 35, respectively, p = 0.03). Arab patients had significantly lower proportion of anti-Saccharomyces cerevisiae antibodies positivity (in CD) and perinuclear anti-neutrophil cytoplasmic antibodies positivity (in UC) than both Sephardic and Ashkenazi Jewish children (23 vs. 53 and 65%, p = 0.002 and 35 vs. 60 and 75%, respectively, p = 0.002). Arab and Jewish children with IBD differ in disease characteristics and severity. Whether genetic or environmental factors are the cause for these differences is yet to be determined.

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

PubMed Central

van Dussen, Laura; Cox, Timothy M.; Hendriks, Erik J.; Morris, Elizabeth; Akkerman, Erik M.; Maas, Mario; Groener, Johanna E. M.; Aerts, Johannes M.F.G.; Deegan, Patrick B.; Hollak, Carla E. M.

2012-01-01

This paper describes the effects of a switch to velaglucerase alfa in a group of adult patients with type 1 Gaucher disease, all of whom had previously had their dose reduced as a consequence of the worldwide imiglucerase shortage. Thirty-two patients from two large European Gaucher centers switched to treatment with velaglucerase alfa after 1-8.5 months of dose reduction. The course of important Gaucher disease parameters was studied at four time points: one year before the shortage, just before the shortage, before a switch to velaglucerase and after up to one year of treatment with velaglucerase. These parameters included hemoglobin concentration, platelet count, plasma chitotriosidase activity in all patients, and spleen and liver volumes (as well as bone marrow fat fraction images) in 10 patients. Decreases in platelet counts as a result of reduced treatment with imiglucerase were quickly restored on treatment with velaglucerase alfa. Chitotriosidase activity declined overall after switching. Five out of 10 patients had an increase in liver volume of at least 10% after six months of velaglucerase treatment, which was reversible in 3. Most patients received infusions at home and no important side effects were observed. Velaglucerase alfa appears to be a safe and effective alternative for imiglucerase. PMID:22773601

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

PubMed

Biegstraaten, M; Cox, T M; Belmatoug, N; Berger, M G; Collin-Histed, T; Vom Dahl, S; Di Rocco, M; Fraga, C; Giona, F; Giraldo, P; Hasanhodzic, M; Hughes, D A; Iversen, P O; Kiewiet, A I; Lukina, E; Machaczka, M; Marinakis, T; Mengel, E; Pastores, G M; Plöckinger, U; Rosenbaum, H; Serratrice, C; Symeonidis, A; Szer, J; Timmerman, J; Tylki-Szymańska, A; Weisz Hubshman, M; Zafeiriou, D I; Zimran, A; Hollak, C E M

2018-02-01

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fink, J.K.; Correll, P.H.; Perry, L.K.

1990-03-01

Retroviral gene transfer has been used successfully to correct the glucocerebrosidase (GCase) deficiency in primary hematopoietic cells from patients with Gaucher disease. For this model of somatic gene therapy, the authors developed a high-titer, amphotropic retroviral vector designated NTG in which the human GCase gene was driven by the mutant polyoma virus enhancer/herpesvirus thymidine kinase gene (tk) promoter (Py{sup +}/Htk). NTG normalized GCase activity in transduced Gaucher fibroblasts and efficiently infected human monocytic and erythroleukemic cell lines. RNA blot-hybridization (Northern blot) analysis of these hemaptopoietic cell lines showed unexpectedly high-level expression from the Moloney murine leukemia virus long terminal repeatmore » (Mo-MLV LTR) and levels of Py{sup +}/Htk enhancer/promoter-initiated human GCase RNA that approximated endogenous GCase RNA levels. Furthermore, NTG efficiently infected human hematopoietic progenitor cells. Detection of the provirus in approximately one-third of NTG-infected progenitor colonies that had not been selected in G418-containing medium indicates that relative resistance to G418 underestimated the actual gene transfer efficiency. Northern blot analysis of NTG-infected, progenitor-derived cells showed expression from both the Mo-MLV LTR and the Py{sup +}/Htk enhancer/promoter. NTG-transduced hematopoietic progenitor cells from patients with Gaucher disease generated progeny in which GCase activity has been normalized.« less

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

PubMed

Serra-Vinardell, Jenny; Díaz, Lucía; Gutiérrez-de Terán, Hugo; Sánchez-Ollé, Gessamí; Bujons, Jordi; Michelakakis, Helen; Mavridou, Irene; Aerts, Johannes M F G; Delgado, Antonio; Grinberg, Daniel; Vilageliu, Lluïsa; Casas, Josefina

2014-09-01

Gaucher disease is an autosomal recessive lysosomal disorder characterized by the accumulation of glucosylceramide as a result of a deficiency of the enzyme glucocerebrosidase. Several competitive glucocerebrosidase inhibitors are able to act as pharmacological chaperones for an efficient rescue of the mutated, misfolded forms of the enzyme. Along this line, we report in this work on the ability of several aminocyclitols to increase the residual glucocerebrosidase activity in patient fibroblasts with different genotypes. Some of the compounds were slightly active on fibroblasts bearing some mutations, including the highly prevalent N370S mutation. All compounds were highly active as enzyme activity enhancers on fibroblasts from Gaucher disease patients containing the G202R mutation. Moreover, using the novel tagged sphingolipid ω-azidosphingosine, a reduction in the tagged glucosylceramide accumulation was also observed for selected aminocyclitols. Attempts to explain the activity impairment observed in glucocerebrosidase bearing the G202R mutation by comparative molecular dynamic studies on wild type and the G202R mutated proteins (free and isofagomine-bound, in both cases) were unsuccessful. Under the simulation conditions used, no clear effect of the G202R mutation neither over the global structure of the protein nor on the loops that constitute the glucocerebrosidase active site was observed. Since the G202R residue is located on the protein surface, altered protein-membrane or protein-protein interactions could account for the observed differences. In conclusion, we have tested novel compounds that have shown some chaperone effect on particular glucocerebrosidase mutant enzymes, supporting the enhancement therapy as an alternative approach for Gaucher disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease.

PubMed

Koppe, Tiago; Doneda, Divair; Siebert, Marina; Paskulin, Livia; Camargo, Matheus; Tirelli, Kristiane Michelin; Vairo, Filippo; Daudt, Liane; Schwartz, Ida Vanessa D

2016-03-01

The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy (n = 2), and ferritin was found to decrease from 756 [318-1441] ng/mL at baseline to 521 [227-626] ng/mL (p=0.025) after 28.8 month soft treatment. Serum ferritin levels did not correlate with measures of disease severity, but showed an association with age at onset of treatment (ρ= 0.880; n = 18; p < 0.001). In conclusion, although serum ferritin did not correlate with disease severity, after a median 28.8 months of treatment, clinical outcomes had clearly improved, and ferritin levels had decreased.

Gaucher disease: Pseudoreversion of a disease mutation`s effects--implications for structure/function and genotype/phenotype correlations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ponce, E.; Mear, J; Grabowski, G.A.

1994-09-01

Numerous mutations ({approximately}45) of the acid {beta}-glucosidase gene have been identified in patients with Gaucher disease. Many of these have been characterized by partial sequencing of cDNAs derived by RT-PCR or PCR of genomic DNA. In addition, genotype/phenotype correlations have been based on screening for known mutations. Thus, only a part of the gene is characterized in any population of affected patients. Several Gaucher disease alleles contain multiple, authentic point mutations that raises concern about conclusions based on only partial genetic characterization. Several wild-type cDNAs for acid {beta}-glucosidase have been sequenced. One contained a cloning artifact encoding R495H. We expressedmore » this cDNA and showed that the R495H enzyme had normal kinetic and stability properties. A disease-associated allele encoding R496H has been found by several groups. The close association and similarities of these two substitutions led us to question the disease casuality of the R496H allele. To evaluate this, we created and/or expressed cDNAs encoding R495, R496 (wild-type), (R495H, R496), (R495, R496H) and (R495H, R496H). The (wild-type) and (R495H, R496) enzymes had indistinguishable properties whereas the (R495, R496H) enzyme was essentially inactive. The introduction of both mutations (R495H, R496H) produced an enzyme whose activity was 25 to 50% of the wild-type. These results indicate that a pseudoreversion to a functional enzyme can occur by introducing a functionally neutral mutation together with a severe mutation. These results have major implications to structure/function and genotype/phenotype correlations in this disease.« less

Crystallization and preliminary X-ray analysis of recombinant human acid beta-glucocerebrosidase, a treatment for Gaucher's disease

NASA Technical Reports Server (NTRS)

Roeber, Dana; Achari, Aniruddha; Manavalan, Partha; Edmunds, Tim; Scott, David L.

2003-01-01

Acid beta-glucocerebrosidase (N-acylsphingosyl-1-O-beta-D-glucoside:glucohydrolase) is a lysosomal glycoprotein that catalyzes the hydrolysis of the glycolipid glucocerebroside to glucose and ceramide. Inadequate levels of this enzyme underly the pathophysiology of Gaucher's disease. Cerezyme (Genzyme Corporation, Cambridge, MA, USA) is a partially deglycosylated form of recombinant human acid beta-glucocerebrosidase that is used in the treatment of Gaucher patients. Although acid beta-glucocerebrosidase belongs to a large family of glycosidases, relatively little is known regarding its structural biology. Here, the crystallization and the initial diffraction analysis of Cerezyme are reported. The crystals are C-centered orthorhombic, with unit-cell parameters a = 285.0, b = 110.2, c = 91.7 A. A 99.9% complete data set has been collected to 2.75 A with an R(sym) of 8.8%.

Crystallization and Preliminary X-ray analysis of Human Recombinant Acid beta-glucocerebrosidase, a treatment for Gaucher's Disease

NASA Technical Reports Server (NTRS)

Roeber, Dana F.; Achari, Aniruddha; Manavalan, Partha; Edmunds, Tim; Scott, David L.; Curreri, Peter A. (Technical Monitor)

2002-01-01

Acid beta-glucocerebrosidase (N-acylsphingosyl - O - beta-D - glucoside:glucohydrolase) is a lysosomal glycoprotein that catalyzes the hydrolysis of the glycolipid glucocerebroside to glucose and ceramide. Inadequate levels of this enzyme underly the pathophysiology of Gaucher's disease. Cerezyme(R) (Genzyme Corporation, Cambridge, MA) is a partially deglycosylated form of recombinant human acid beta-glucocerebrosidase that is commercially available for the treatment of Gaucher patients. Although acid beta-glucocerebrosidase belongs to a large family of glycosidases, relatively little is known regarding its structural biology. We report the crystallization and the initial diffraction analysis of Cerezyme(R). The crystals are C-centered orthorhombic, with unit-cell parameters of a = 285.0 A, b = 110.2 A, and c = 91.7 A. A 99.9 A complete data set has been collected to 2.75 A with an R(sub sym) of 8.8 %.

Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

PubMed

Simon-Tov, Shlomi; Dinur, Tama; Giladi, Nir; Bar-Shira, Anat; Zelis, Mayaan; Zimran, Ari; Elstein, Deborah

2015-01-01

Poor color discrimination among patients with Parkinson disease (PD) has long been recognized. It has been shown that carrying one or two mutations in the β-glucocerebrosidase gene (GBA) for the autosomal disease Gaucher disease (GD), as based initially on clinical evidence, is a genetic risk factor for early-onset PD. The purpose of this study was to assess color discrimination in patients with one or two GBA mutations relative to healthy controls to ascertain whether this function is affected when persons with GD or even one GBA mutation develop PD. The Farnsworth-Munsell 100 hue test (FMHT) was evaluated among patients with GD+PD compared to patients with GD only, obligate GBA carriers with and without PD, patients with PD only, and healthy controls. FMHT outcome include computer-generated TES (Total Error Score) and values recommended by Vingrys & King-Smith. Six groups of 10 persons were tested. Significant differences were seen for male GD+PD and for age in PD. The highest mean TES was in the PD only group, the lowest in the GD only group. There was a significant difference because of PD in groups with GD and GBA carriers. GD+PD means were between GD only and PD only mean scores. These findings confirm that PD impacts color discrimination, more in males with GD+PD but nonetheless, GD+PD patients (but not GBA carriers) had better scores than PD only patients.

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease

PubMed Central

2014-01-01

Objective To evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I). Design Cost-effectiveness analysis was performed using a life-time state-transition model of the disease’s natural course. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch study cohort. Setting The tertiary referral center for Gaucher disease in the Netherlands. Participants The Dutch cohort of patients with GD I. Intervention ERT versus standard medical care without ERT in symptomatic patients. Main outcome measures Years free of end organ damage (YFEOD) (splenectomy, bone complication, malignancy, multiple complications), quality adjusted life years (QALY), and costs. Results Over an 85 year lifetime, an untreated GD I patient will generate 48.9 YFEOD and 55.86 QALYs. Starting ERT in a symptomatic patient increases the YFEOD by 12.8 years, while the number of QALYs gained increases by 6.27. The average yearly ERT medication costs range between €124,000 and €258,000 per patient. The lifetime costs of ERT starting in the symptomatic stage are €5,716,473 against €171,780 without ERT, a difference of €5,544,693. Consequently, the extra costs per additional YFEOD or per additional QALY are €434,416 and €884,994 respectively. After discounting effects by 1.5% and costs by 4% and under a reasonable scenario of ERT unit cost reduction by 25%, these incremental cost-effectiveness ratios could decrease to €149,857 and €324,812 respectively. Discussion ERT is a highly potential drug for GD I with substantial health gains. The conservatively estimated incremental cost-effectiveness ratios are substantially lower than for Pompe and Fabry disease. We suggest that the high effectiveness has contributed importantly to acceptance of reimbursement of ERT for GD I. The present study may

Characterization of a novel gene at the Gaucher disease locus spanning the region between the glucocerebrosidase (GC) pseudogene and thrombospondin (TSP)3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ginns, E.I.; Winfield, S.; Sidransky, E.

1994-09-01

The human GC locus on chromosome 1q21 encompasses a 7 kb functional gene encoding the enzyme deficient in Gaucher disease, and a highly homologous sequence 16 Kb downstream that has the properties of a pseudogene. A novel gene, gene X, spanning the 6 kb region between the pseudogene and TSP3 has been identified and characterized in the mouse, and appears to be critical for normal embryonic development. As in the mouse, the human gene X is located 5{prime} to the TSP3 gene and two genes are transcribed divergently from a bidirectional promoter; the direction of transcription of gene X andmore » GC is convergent. However, in the human, gene X and GC are separated by gene X and GC pseudogenes that are the consequence of a gene duplication. The gene X pseudogene lacks the first exon and part of the second exon of the functional gene and may not be transcribed. Northern blot analyses indicate that gene X is transcribed in both normal individuals and in patients with Gaucher disease, but the function of this gene is still unknown. The possibility that mutations in gene X could account for some of the diversity of symptoms encountered in individuals with the more atypical presentations of Gaucher disease is under investigation.« less

Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.

PubMed

Drelichman, Guillermo; Fernández Escobar, Nicolás; Basack, Nora; Aversa, Luis; Larroude, María Silvia; Aguilar, Gabriela; Szlago, Marina; Schenone, Andrea; Fynn, Alcyra; Cuello, María Fernanda; Aznar, Marcela; Fernández, Ramiro; Ruiz, Alba; Reichel, Paola; Guelbert, Norberto; Robledo, Hugo; Watman, Nora; Bolesina, Moira; Elena, Graciela; Veber, S Ernesto; Pujal, Graciela; Galván, Graciela; Chain, Juan José; Arizo, Adriana; Bietti, Julieta; Bar, Daniel; Dragosky, Marta; Marquez, Marisa; Feldman, Leonardo; Muller, Katja; Zirone, Sandra; Buchovsky, Greogorio; Lanza, Victoria; Sanabria, Alba; Fernández, Ignacio; Jaureguiberry, Rossana; Contte, Marcelo; Barbieri María, Angie; Maro, Alejandra; Zárate, Graciela; Fernández, Gabriel; Rapetti, María Cristina; Donato, Hugo; Degano, Adriana; Kantor, Gustavo; Albina, Roberto; Á Lvarez Bollea, María; Brun, María; Bacciedoni, Viviana; Del Río, Francis; Soberón, Bárbara; Boido, Nazario; Schweri, Maya; Borchichi, Sandra; Welsh, Victoria; Corrales, Marcela; Cedola, Alejandra; Carvani, Analía; Diez, Blanca; Richard, Lucía; Baduel, Ccecilia; Nuñez, Gabriela; Colimodio, Rubén; Barazzutti, Lucía; Medici, Hugo; Meschengieser, Susana; Damiani, Germán; Nucifora, María; Girardi, Beatriz; Gómez, Sergio; Papucci, Maura; Verón, David; Quiroga, Luis; Carro, Gustavo; De Ambrosio, Patricia; Ferro, José; Pujol, Marcelo; Castella, Cristina Cabral; Franco, Liliana; Nisnovich, Gisela; Veloso, María; Pacheco, Isabel; Savarino, Mario; Marino, Andrés; Saavedra, José Luis

2016-10-01

Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

The Pharmacological Chaperone Isofagomine Increases Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase

PubMed Central

Khanna, Richie; Benjamin, Elfrida R.; Pellegrino, Lee; Schilling, Adriane; Rigat, Brigitte A.; Soska, Rebecca; Nafar, Hadis; Ranes, Brian E.; Feng, Jessie; Lun, Yi; Powe, Allan C.; Palling, David J.; Wustman, Brandon A.; Schiffmann, Raphael; Mahuran, Don J.; Lockhart, David J.; Valenzano, Kenneth J.

2010-01-01

SUMMARY Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase (GCase). We have shown previously that the small molecule pharmacological chaperone isofagomine (IFG) binds and stabilizes N370S GCase, resulting in increased lysosomal trafficking and cellular activity. In this study, we investigated the effect of IFG on L444P GCase. Incubation of Gaucher patient-derived lymphoblastoid cell lines (LCLs) or fibroblasts with IFG led to approximately 3.5- and 1.3-fold increases in L444P GCase activity, respectively, as measured in cell lysates. The effect in fibroblasts was increased approximately 2-fold using glycoprotein-enrichment, GCase-immunocapture, or by incubating cells overnight in IFG-free media prior to assay, methods designed to maximize GCase activity by reducing IFG carryover and inhibition in the enzymatic assay. IFG incubation also increased the lysosomal trafficking and in situ activity of L444P GCase in intact cells, as measured by reduction in endogenous glucosylceramide levels. Importantly, this reduction was seen only following three-day incubation in IFG-free media, underscoring the importance of IFG removal to restore lysosomal GCase activity. In mice expressing murine L444P GCase, oral administration of IFG resulted in significant increases (2- to 5-fold) in GCase activity in disease-relevant tissues, including brain. Additionally, eight-week IFG administration significantly lowered plasma chitin III and IgG levels, and 24-week administration significantly reduced spleen and liver weights. Taken together, these data suggest that IFG can increase the lysosomal activity of L444P GCase in cells and tissues. Moreover, IFG is orally available and distributes into multiple tissues, including brain, and may thus merit therapeutic evaluation for patients with neuronopathic and non-neuronopathic Gaucher disease. PMID:20148966

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

PubMed Central

Mistry, Pramod K; Deegan, Patrick; Vellodi, Ashok; Cole, J Alexander; Yeh, Michael; Weinreb, Neal J

2009-01-01

Data from the International Collaborative Gaucher Group Gaucher Registry were analysed to assess the relationship between enzyme replacement therapy with imiglucerase (ERT) and incidence of avascular necrosis (AVN) in type 1 Gaucher disease (GD1), and to determine whether the time interval between diagnosis and initiation of ERT influences the incidence rate of AVN. All patients with GD1 enrolled in the Gaucher Registry who received ERT and did not report AVN prior to starting therapy (n = 2700) were included. The incidence rate of AVN following initiation of ERT was determined. An incidence rate of AVN of 13·8 per 1000 person-years was observed in patients receiving ERT. Patients who initiated ERT within 2 years of diagnosis had an incidence rate of 8·1 per 1000 person-years; patients who started ERT ≥2 years after diagnosis had an incidence rate of 16·6 per 1000 person-years. The adjusted incidence rate ratio was 0·59 [95% confidence interval (CI) 0·36–0·96, P = 0·0343]. Splenectomy was an independent risk factor for AVN (adjusted incidence rate ratio 2·23, 95% CI 1·61–3·08, P < 0·0001). In conclusion, the risk of AVN was reduced among patients who initiated ERT within 2 years of diagnosis, compared to initiating treatment ≥2 years after diagnosis. A higher risk of AVN was observed among patients who had previously undergone splenectomy. PMID:19732054

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

PubMed Central

Zheng, Wei; Padia, Janak; Urban, Daniel J.; Jadhav, Ajit; Goker-Alpan, Ozlem; Simeonov, Anton; Goldin, Ehud; Auld, Douglas; LaMarca, Mary E.; Inglese, James; Austin, Christopher P.; Sidransky, Ellen

2007-01-01

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the glucocerebrosidase gene. Missense mutations result in reduced enzyme activity that may be due to misfolding, raising the possibility of small-molecule chaperone correction of the defect. Screening large compound libraries by quantitative high-throughput screening (qHTS) provides comprehensive information on the potency, efficacy, and structure–activity relationships (SAR) of active compounds directly from the primary screen, facilitating identification of leads for medicinal chemistry optimization. We used qHTS to rapidly identify three structural series of potent, selective, nonsugar glucocerebrosidase inhibitors. The three structural classes had excellent potencies and efficacies and, importantly, high selectivity against closely related hydrolases. Preliminary SAR data were used to select compounds with high activity in both enzyme and cell-based assays. Compounds from two of these structural series increased N370S mutant glucocerebrosidase activity by 40–90% in patient cell lines and enhanced lysosomal colocalization, indicating chaperone activity. These small molecules have potential as leads for chaperone therapy for Gaucher disease, and this paradigm promises to accelerate the development of leads for other rare genetic disorders. PMID:17670938

The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy.

PubMed

Wilson, Callum; Spearing, Ruth; Teague, Lochie; Robertson, Patsy; Blacklock, Hilary

2007-01-01

Enzyme replacement therapy is now well established as the treatment of choice in Type I Gaucher disease. Historically higher dosage regimens have been used in preference to lower doses despite the little clinical evidence in the way of large controlled clinical trials to support this. Moreover, the extraordinary cost of therapy means that not all eligible patients are able to be treated at the higher dose. Twelve type I adult patients with relatively severe disease were commenced on a very low dose of 7.5U of alglucerase/imiglucerase per kg every two weeks (initially given thrice weekly and later weekly). Follow-up 5 year data reveal a good visceral and haematological response with outcomes consistent with recently published treatment guidelines. Satisfactory clinical and radiological skeletal improvement was also demonstrated in most patients. Three patients had an inadequate overall skeletal response to therapy. Biomarkers also steadily improved although perhaps not quite at the same rate as that seen in higher doses. Very low dose enzyme replacement therapy may be appropriate for adult type I Gaucher patients with mild-moderate skeletal disease.

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

PubMed

Collins, Lucy M; Williams-Gray, Caroline H; Morris, Elizabeth; Deegan, Patrick; Cox, Timothy M; Barker, Roger A

2018-05-29

We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical course. While two patients developed early cognitive deficits and dementia, three others remained cognitively intact over the follow-up period. Thus, in this small case series, PD in the context of GD more closely resembles idiopathic PD in terms of its clinical heterogeneity in contrast to PD associated with GBA heterozygote mutations.

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

PubMed

Sista, Ramakrishna S; Wang, Tong; Wu, Ning; Graham, Carrie; Eckhardt, Allen; Winger, Theodore; Srinivasan, Vijay; Bali, Deeksha; Millington, David S; Pamula, Vamsee K

2013-09-23

New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases. We developed an investigational disposable digital microfluidic cartridge that uses a single dried blood spot (DBS) punch for performing a 5-plex fluorometric enzymatic assay on up to 44 DBS samples. Precision and linearity of the assays were determined by analyzing quality control DBS samples; clinical performance was determined by analyzing 600 presumed normal and known affected samples (12 for Pompe, 7 for Fabry and 10 each for Hunter, Gaucher and Hurler). Overall coefficient of variation (CV) values between cartridges, days, instruments, and operators ranged from 2 to 21%; linearity correlation coefficients were ≥0.98 for all assays. The multiplex enzymatic assay performed from a single DBS punch was able to discriminate presumed normal from known affected samples for 5 LSDs. Digital microfluidic technology shows potential for rapid, high-throughput screening for 5 LSDs in a newborn screening laboratory environment. Sample preparation to enzymatic activity on each cartridge is less than 3h. Copyright © 2013 Elsevier B.V. All rights reserved.

Nonprofit Groups Offer Genetic Testing for Jewish Students

ERIC Educational Resources Information Center

Supiano, Beckie

2008-01-01

This article describes how nonprofit organizations like Hillel are offering free genetic testing for Jewish college students. A growing number of colleges, including Pittsburgh, Brandeis University, and Columbia University are offering students free or reduced-cost screenings for diseases common to Jewish population. Genetic diseases common to…

How Do I Talk to My Family about Gaucher?

MedlinePlus

... or in fact have Gaucher. This includes siblings, parents, and children as well as more distant relatives such as ... chances of having Gaucher or the chance of children inheriting Gaucher from their parents. Websites and brochures that have been useful for ...

Gauchers disease--a reappraisal of hematopoietic stem cell transplantation.

PubMed

Ito, Sawa; Barrett, A John

2013-03-01

Hematopoietic stem cell transplantation (HSCT), first performed in 1984, was the first treatment approach for Gaucher's disease (GD) which had curative intent. The early successes in HSCT were soon eclipsed by the introduction of a highly effective enzyme replacement therapy (ERT), which has remained the single most widely used treatment. Experience with HSCT is limited to about 50 reported cases, mainly performed in the last century, with an overall survival around 85%. HSCT typically achieves complete correction of visceral and bony changes and can fully stabilize neurological features in otherwise progressive type II and III GD. ERT, in contrast, is completely safe and effective, but is limited by cost, incomplete resolution of visceral, hematological, and bony features in some patients, and lack of neurological correction in type II and III disease. In this review, we summarize and compare HSCT and ERT. With 20 years of experience of ERT, its limitations as well as its advantages are now well delineated. Meanwhile progress in HSCT over the last decade suggests that transplantation would today represent a very safe curative approach for GD offering one time complete correction of the disease, contrasting with the lifelong need for ERT with its associated expense and dependence on sophisticated drug manufacture. Additionally, unlike ERT, HSCT can be beneficial for neurological forms of GD. We conclude that the time has come to re-evaluate HSCT in selected patients with GD where ERT is less likely to fully eradicate symptoms of the disease.

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

PubMed

Weinreb, Neal J; Goldblatt, Jack; Villalobos, Jacobo; Charrow, Joel; Cole, J Alexander; Kerstenetzky, Marcelo; vom Dahl, Stephan; Hollak, Carla

2013-05-01

We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1). The International Collaborative Gaucher Group (ICGG) Gaucher Registry identified GD1 patients treated with alglucerase/imiglucerase who had dose and clinical data at first infusion and after 10 years of follow-up. Data for hemoglobin, platelet count, organ volumes, bone pain, and bone crisis were analyzed. Tests of the null hypothesis (no change from first infusion to 10 years) were performed using t tests for within-patient absolute change in continuous measurements and McNemar/chi-square tests for change in distributions using categorical values. An alpha level of 0.05 designated statistical significance. As of October 2011, 557 nonsplenectomized and 200 splenectomized patients met the inclusion criteria. The majority of GD1 patients had at least one N370S allele. Compared with nonsplenectomized patients at first infusion, splenectomized patients had lower percentages of anemia (26.0 % vs. 42.8 %) and thrombocytopenia (14.2 % vs. 76.3 %), similar percentages of moderate or severe hepatomegaly (81.2 % vs. 80.0 %), and higher percentages of bone pain (88.9 % vs. 52.4 %) and bone crises (38.3 % vs. 16.0 %). After 10 years, both groups showed significant (p < 0.05) improvements in mean hemoglobin levels, platelet count, liver, and spleen (nonsplenectomized) volumes, and bone crises. Initial dosing in both groups ranged from <15 U/kg to ≤90 U/kg every 2 weeks. After 10 years, the majority was receiving 15 to ≤45 U/kg every 2 weeks. Ten years of imiglucerase treatment results in sustainable improvements in all GD1 parameters.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

PubMed

Mazzulli, Joseph R; Xu, You-Hai; Sun, Ying; Knight, Adam L; McLean, Pamela J; Caldwell, Guy A; Sidransky, Ellen; Grabowski, Gregory A; Krainc, Dimitri

2011-07-08

Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to the lysosomal storage disorder Gaucher disease (GD), but the mechanistic connection is not known. Here, we show that functional loss of GD-linked glucocerebrosidase (GCase) in primary cultures or human iPS neurons compromises lysosomal protein degradation, causes accumulation of α-synuclein (α-syn), and results in neurotoxicity through aggregation-dependent mechanisms. Glucosylceramide (GlcCer), the GCase substrate, directly influenced amyloid formation of purified α-syn by stabilizing soluble oligomeric intermediates. We further demonstrate that α-syn inhibits the lysosomal activity of normal GCase in neurons and idiopathic PD brain, suggesting that GCase depletion contributes to the pathogenesis of sporadic synucleinopathies. These findings suggest that the bidirectional effect of α-syn and GCase forms a positive feedback loop that may lead to a self-propagating disease. Therefore, improved targeting of GCase to lysosomes may represent a specific therapeutic approach for PD and other synucleinopathies. Copyright © 2011 Elsevier Inc. All rights reserved.

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

PubMed Central

Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma P.; Baris, Hagit; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Pastores, Gregory; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Gaemers, Sebastiaan J. M.; Tayag, Regina; Peterschmitt, M. Judith

2017-01-01

Abstract Eliglustat, an oral substrate reduction therapy, is a first‐line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients). In the primary analysis of the Phase 3 ENGAGE trial (NCT00891202), eliglustat treatment for 9 months resulted in significant reductions in spleen and liver volumes and increases in hemoglobin concentration and platelet count compared with placebo. We report 18‐month outcomes of patients who entered the trial extension period, in which all patients received eliglustat. Of 40 trial patients, 39 entered the extension period, and 38 completed 18 months. Absolute values and percent change over time were determined for spleen and liver volume, hemoglobin concentration, platelet count, bone mineral density, bone marrow burden, and Gaucher disease biomarkers. For patients randomized to eliglustat in the double‐blind period, continuing treatment with eliglustat for 9 more months resulted in incremental improvement of all disease parameters. For patients randomized to placebo in the double‐blind period, eliglustat treatment during the 9‐month, open‐label period resulted in significant decrease of spleen and liver volumes and significant increase of hemoglobin and platelets, with a similar rate of change to patients who had received eliglustat in the double‐blind period. Eliglustat treatment was also associated with improvement in bone marrow burden score, bone mineral density, and established biomarkers of Gaucher disease, including reduction of the bioactive lipid, glucosylsphingosine. These findings underscore the efficacy of eliglustat in treatment‐naïve patients. Eliglustat was well‐tolerated, and there were no new safety concerns with longer‐term exposure. PMID:28762527

Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lee, Yea-Jin; Kim, Sung-Jo, E-mail: sungjo@hoseo.edu; Heo, Tae-Hwe, E-mail: thhur92@catholic.ac.kr

Highlights: {yields} Catechin reduces the expression level of ER stress marker protein in type I Gaucher disease cells. {yields} Catechin induces the proliferation rate of GD cells similar levels to normal cells. {yields} Catechin improves wound healing activity. {yields} Catechin-mediated reductions in ER stress may be associated with enhanced cell survival. {yields} We identified catechin as a protective agent against ER stress in GD cells. -- Abstract: Gaucher disease (GD) is the most common lysosomal storage disorder (LSD) and is divided into three phenotypes, I, II, and III. Type I is the most prevalent form and has its onset inmore » adulthood. The degree of endoplasmic reticulum (ER) stress is one of the factors that determine GD severity. It has recently been reported that antioxidants reduce ER stress and apoptosis by scavenging the oxidants that cause oxidative stress. For this report, we investigated the possibility that catechin can act on type I GD patient cells to alleviate the pathogenic conditions of GD. We treated GD cells with catechin and examined the expression level of GRP78/BiP (an ER stress marker) by western blots and fluorescence microscopy, the proliferation rate of GD cells, and scratch-induced wound healing activity. Our results show that catechin reduces the expression level of GRP78/BiP, leads to cell proliferation rates of GD cells similar levels to normal cells, and improves wound healing activity. We conclude that catechin protects against ER stress in GD cells and catechin-mediated reductions in ER stress may be associated with enhanced cell survival.« less

Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.

PubMed

Gupta, Punita; Pastores, Gregory M

2017-01-01

Gaucher disease (GD) is a heritable storage disorder caused by functional defects of the lysosomal acid β-glucosidase and the accumulation of glucosylceramide within macrophages, resulting in multiple organ dysfunction. There are three commercially available enzyme replacement therapy (ERT) products for the treatment of GD type 1 (GD1): imiglucerase, velaglucerase alfa, and taliglucerase alfa. Imiglucerase and velaglucerase alfa are produced in different mammalian cell systems; imiglucerase requires postproduction deglycosylation to expose terminal α-mannose residues, which are required for mannose receptor-mediated uptake by target macrophages. These steps are critical to the success of ERT for the treatment of visceral and hematologic manifestations of GD. Taliglucerase alfa is the first US Food and Drug Administration-approved plant-cell-expressed recombinant human protein, using carrot root cell cultures. Furthermore, it does not require postproduction glycosidic modifications. It is indicated for treatment of adults with GD1 in the US, Israel, Australia, Canada, Chile, Brazil, and other countries, and it is additionally approved for the treatment of pediatric patients in the US, Australia, and Canada and for the treatment of hematologic manifestations in pediatric patients with Type 3 GD in Canada and other countries. Our review focuses on the role of taliglucerase alfa in the pediatric population. A literature search through PubMed (from 1995 up till November 2016) of English language articles was performed with the following terms: Gaucher disease, lysosomal storage disease, taliglucerase. Secondary and tertiary references were obtained by reviewing related articles as well as the website www.Clinicaltrials.gov. It has been demonstrated that taliglucerase alfa is efficacious, with a well-established safety profile in pediatric, ERT-naïve patients with symptomatic GD1, as well as for those patients previously treated with imiglucerase.

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

PubMed

Narita, Aya; Shirai, Kentarou; Itamura, Shinji; Matsuda, Atsue; Ishihara, Akiko; Matsushita, Kumi; Fukuda, Chisako; Kubota, Norika; Takayama, Rumiko; Shigematsu, Hideo; Hayashi, Anri; Kumada, Tomohiro; Yuge, Kotaro; Watanabe, Yoriko; Kosugi, Saori; Nishida, Hiroshi; Kimura, Yukiko; Endo, Yusuke; Higaki, Katsumi; Nanba, Eiji; Nishimura, Yoko; Tamasaki, Akiko; Togawa, Masami; Saito, Yoshiaki; Maegaki, Yoshihiro; Ohno, Kousaku; Suzuki, Yoshiyuki

2016-03-01

Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease. Specifically, ambroxol, a commonly used expectorant, has been proposed as a candidate pharmacological chaperone. The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic GD. This open-label pilot study included five patients who received high-dose oral ambroxol in combination with enzyme replacement therapy. Safety was assessed by adverse event query, physical examination, electrocardiography, laboratory studies, and drug concentration. Biochemical efficacy was assessed through evidence of glucocerebrosidase activity in the lymphocytes and glucosylsphingosine levels in the cerebrospinal fluid. Neurological efficacy was evaluated using the Unified Myoclonus Rating Scale, Gross Motor Function Measure, Functional Independence Measure, seizure frequency, pupillary light reflex, horizontal saccadic latency, and electrophysiologic studies. High-dose oral ambroxol had good safety and tolerability, significantly increased lymphocyte glucocerebrosidase activity, permeated the blood-brain barrier, and decreased glucosylsphingosine levels in the cerebrospinal fluid. Myoclonus, seizures, and pupillary light reflex dysfunction markedly improved in all patients. Relief from myoclonus led to impressive recovery of gross motor function in two patients, allowing them to walk again. Pharmacological chaperone therapy with high-dose oral ambroxol shows promise in treating neuronopathic GD, necessitating further clinical trials.

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

PubMed

Zimran, Ari; Elstein, Deborah; Gonzalez, Derlis E; Lukina, Elena A; Qin, Yulin; Dinh, Quinn; Turkia, Hadhami Ben

2018-02-01

Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on the achievement of published therapeutic goals and the normalization of disease parameters in 39 treatment-naïve patients with type 1 Gaucher disease, 6 to 62years of age, enrolled in phase 3 clinical trials. After 4years of ERT, therapeutic goals for thrombocytopenia and splenomegaly had been achieved in 100% of patients; goals for anemia and hepatomegaly had been achieved in 95% and 94% of patients, respectively. Consistent with the goal for bone mineral density, lumbar spine bone density improved in 87% of patients ≥18years of age. At year 4, compared with clinical ranges for healthy individuals, 86% of patients with a low baseline hemoglobin concentration had normalized, 60% with a low baseline platelet count had normalized, 67% with baseline splenomegaly had normalized, 58% with hepatomegaly had normalized, and lumbar spine bone density had normalized in 53% of adults. The decade-old therapeutic goals do not reflect the potential for normalization of clinical parameters in ERT-treated patients. Goals consistent with normalization or near-normalization should be considered. ClinicalTrials.gov identifiers: NCT00430625, NCT00553631, NCT00635427. Copyright © 2016 Shire Human Genetic Therapies, Inc. Published by Elsevier Inc. All rights reserved.

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model.

PubMed

Bellgard, Matthew I; Napier, Kathryn R; Bittles, Alan H; Szer, Jeffrey; Fletcher, Sue; Zeps, Nikolajs; Hunter, Adam A; Goldblatt, Jack

2018-02-01

Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these 'independent' registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases. We therefore extended an open-source registry platform, the Rare Disease Registry Framework (RDRF) to establish an Independent Rare Disease Registry (IRDR). We engaged with an established rare disease community for Gaucher disease to determine system requirements, methods of data capture, consent, and reporting. A non-proprietary IRDR model is presented that can serve as autonomous data repository, but more importantly ensures that the relevant data can be made available to appropriate stakeholders in a secure, timely and efficient manner to improve clinical decision-making and the lives of those with a rare disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rafi, M.A.; Gala, G. de; Xunling Zhang

1993-01-01

It is now clear that the lysosomal hydrolysis of sphingolipids requires both lysosomal enzymes and so-called sphingolipid activator proteins (SAPs). One gene, called prosaposin, codes for a precursor protein that is proteolytically cut into four putative SAPs. These four SAPs, of about 80 amino acids, share some structural features but differ somewhat in their specificity. Domain 3 of prosaposin mRNA contains the coding region for SAP-2, an activator of glucocerebrosidase. While most patients with Gaucher disease store glucosylceramide due to defects in glucocerebrosidase, a few patients store this lipid in the presence of normal enzyme levels. In this paper themore » authors describe the identification of a point mutation in domain 3 of a patient who died with this variant form of Gaucher disease. Polymerase chain reaction amplification was performed in the small amount of genomic DNA available using primers generated from the intronic sequence surrounding domain 3. The patient was found to have a T-to-G substitution at position 1144 (counting from the A of ATG initiation codon) in half of the M13 recombinant clones. This changes the codon for cysteine[sub 382] to glycine. His father and unaffected brother also had this mutation, but his mother did not. She was found to have half of the normal amount of mRNA for prosaposin in her cultured skin fibroblasts. Therefore, this child inherited a point mutation in domain 3 from his father and a deficiency of all four SAPs coded for by prosaposin from his mother. 29 refs., 3 figs., 1 tab.« less

Intraobserver and interobserver variability of the bone marrow burden (BMB) score for the assessment of disease severity in Gaucher disease. Possible impact of reporting experience.

PubMed

Lai, Jeffrey K C; Robertson, Patricia L; Goh, Christine; Szer, Jeff

2018-02-01

To evaluate the intraobserver and interobserver agreement for bone marrow burden (BMB) scores for individual examinations and for the change in BMB score over time in the same patient. A total of 119 sets of MR images of the lumbar spine and femora from 60 patients with Gaucher disease were included. Each set of MR images was scored using the BMB score independently by two experienced MSK radiologists. One radiologist performed a second read four weeks later. Intraobserver and interobserver agreement was assessed using Bland-Altman analysis and weighted kappa scores. BMB scores (n=119) demonstrated fair intraobserver agreement (weighted kappa=0.53) with a mean difference of -0.20 and 95% limits of agreement (LOA) of (-3.41, 3.01). Inter observer agreement was poor with weighted kappa 0.28 with mean difference of -0.16 and 95% LOA of (-4.45, 4.11). Change in BMB scores over time (n=59) demonstrated poor/fair intraobserver agreement (weighted kappa 0.41, mean difference-0.20 and 95% LOA (-4.35, 3.94)). Interobserver agreement was poor (weighted kappa 0.25, mean difference -0.12 with wide 95% LOA (-6.23, 5.99)). Significant interobserver, and to a lesser extent intraobserver, variation occurs with blinded BMB scoring of Gaucher disease. Copyright © 2016 Elsevier Inc. All rights reserved.

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

PubMed

Michelin, Kristiane; Wajner, Alessandro; de Souza, Fernanda T S; de Mello, Alexandre S; Burin, Maira G; Pereira, Maria Luiza S; Pires, Ricardo F; Giugliani, Roberto; Coelho, Janice C

2005-07-01

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosidase (beta-glucosidase) deficiency. Between January 1982 and October 2003, 1,081 blood samples from patients suspected of having GD were referred for biochemical analysis. The activities of the enzymes beta-glucosidase (beta-glu) and chitotriosidase (CT) were measured in these samples. Among the 412 diagnosed cases of GD (38.1%), the great majority were GD type 1. The Brazilian regions with the greatest concentration of these patients were the Southeast, South, and Northeast. The mean age of patients at diagnosis was 19 years. The activity of beta-glu in patients with GD was, on average, 10.7% of that of normal individuals. CT was, on average, 269 times more elevated in this group of patients. Among the 669 cases with no confirmation of GD, there were patients with Niemann-Pick disease types A, B, or C (44 cases), possible heterozygotes for GD (59 cases), patients with other lysosomal storage diseases (LSDs) (19 cases) or with other inborn errors of metabolism (3 cases). In 508 cases, no metabolic disorder was found. This study shows that the biochemical protocol employed was effective for the detection of GD, a disease that is reasonably frequent in Brazil. Copyright (c) 2005 Wiley-Liss, Inc.

In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.

PubMed

Manickam, Madhumathi; Ravanan, Palaniyandi; Singh, Pratibha; Talwar, Priti

2014-01-01

Gaucher's disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. Polymorphisms in GBA gene have been associated with the development of Gaucher disease. We hypothesize that prediction of SNPs using multiple state of the art software tools will help in increasing the confidence in identification of SNPs involved in GD. Enzyme replacement therapy is the only option for GD. Our goal is to use several state of art SNP algorithms to predict/address harmful SNPs using comparative studies. In this study seven different algorithms (SIFT, MutPred, nsSNP Analyzer, PANTHER, PMUT, PROVEAN, and SNPs&GO) were used to predict the harmful polymorphisms. Among the seven programs, SIFT found 47 nsSNPs as deleterious, MutPred found 46 nsSNPs as harmful. nsSNP Analyzer program found 43 out of 47 nsSNPs are disease causing SNPs whereas PANTHER found 32 out of 47 as highly deleterious, 22 out of 47 are classified as pathological mutations by PMUT, 44 out of 47 were predicted to be deleterious by PROVEAN server, all 47 shows the disease related mutations by SNPs&GO. Twenty two nsSNPs were commonly predicted by all the seven different algorithms. The common 22 targeted mutations are F251L, C342G, W312C, P415R, R463C, D127V, A309V, G46E, G202E, P391L, Y363C, Y205C, W378C, I402T, S366R, F397S, Y418C, P401L, G195E, W184R, R48W, and T43R.

Previously unrecognized behavioral phenotype in Gaucher disease type 3

PubMed Central

Potegal, Michael; Shapiro, Elsa G.; Nestrasil, Igor

2017-01-01

Objective: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. Methods: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording. Behaviors were grouped into 4 categories: Crying/Withdrawal, Impatience/Overactivity, Anger/Aggression, and Repetitive Acts. Baseline and follow-up 6–12 monthly neurologic evaluations included IQ assessment and an EEG. All patients were receiving enzyme replacement therapy (30–60 IU/kg every 2 weeks) and were followed for periods of 3–10 years. Results: Supranuclear palsy of horizontal gaze, and of both horizontal and vertical gaze, bulbar symptoms, seizures, convergent strabismus, abnormal gait, and neck retroflexion were present in 97.1%, 50%, 55.9%, 29.4%, 29.4%, 20.6%, and 4.4% of patients, respectively. The most abnormal behavioral features were excessive anger (88.2%) and aggression (64.7%), and both were significantly higher in males. Anger/Aggression scores were highly correlated with IQ but not with either EEG/Seizure status or neurologic signs. Conclusions: We describe behavioral problems with a unique pattern of excessive anger and aggression in patients with GD3. Defining these components using quantitative behavioral scoring methods holds promise to provide a marker of neurologic disease progression and severity. PMID:28634598

[Cliniko-laboratory indicators of efficiency fermento-substitution therapy of Gaucher disease in Ukraine].

PubMed

Ol'khovych, N V; Gryshchenko, O M; Pichkur, N O; Nedoboĭ, A M; Trofimova, N S; Ivanova, T P; Gorovenko, N G

2011-01-01

The analysis of efficiency of treatment of 17 patients with Gaucher disease (GD) in Ukraine who had received fermento-substitution therapy for 2 years and more was conducted on the basis of clinical and laboratory monitoring data. Regular infusions of recombinant glucocerebroside reduced signs of hepatosplenomegaly and pancytopenia, reduced a bone pain and a bone crisis at the majority of patients with GD I type that led to considerable improvement of health state and improvement of patients life quality. Efficiency of treatment depended on regularity of drug administration, dosage and severity level of the disease at the start of the therapy. Adult patients were not seen to have corrections of bones and neurologic disorders after the treatment that confirmed necessity of an early initiation of the treatment, before formation of irreversible changes in these organs and systems. Chitiotriodase activity in blood plasma is the most complex laboratory indicator which displays activity of pathological process in patients with GD, therefore it is necessary to use it for an estimation of treatment efficiency to correct a recombinant glucocerebroside dosage.

Genetic Disease Foundation

MedlinePlus

... has used its fundraising efforts to help further research programs at Mount Sinai. Spotlight: Gaucher Gaucher Disease is the most common of the lipid storage diseases. Learn about its symptoms, how it ...

Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.

PubMed

de Boer, Geertje M; van Dussen, Laura; van den Toorn, Leon M; den Bakker, Michael A; Hoek, Rogier A S; Hesselink, Dennis A; Hollak, Carla E M; van Hal, Peter Th W

2016-01-01

Gaucher disease (GD), a lysosomal storage disorder, may result in end-stage lung disease. We report successful bilateral lung transplantation in a 49-year-old woman with GD complicated by severe pulmonary hypertension and fibrotic changes in the lungs. Before receiving the lung transplant, the patient was undergoing both enzyme replacement therapy (imiglucerase) and triple pulmonary hypertension treatment (epoprostenol, bosentan, and sildenafil). She had a history of splenectomy, severe bone disease, and renal involvement, all of which were related to GD and considered as relative contraindications for a lung transplantation. In the literature, lung transplantation has been suggested for severe pulmonary involvement in GD but has been reported only once in a child. To our knowledge, until now, no successful procedure has been reported in adults, and no reports deal with the severe potential posttransplantation complications specifically related to GD. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Texts in Tension: Negotiating Jewish Values in the Adult Jewish Learning Classroom

ERIC Educational Resources Information Center

Woocher, Meredith L.

2004-01-01

In this paper, the author begins with a brief classroom scene that illustrates a number of significant features of contemporary American Jewish life. The engagement of adult students with Jewish text study is an example and outgrowth of the flourishing of programs of adult Jewish learning over the past two decades. Thousands of similar Jewish…

Technology: So Pervasive in Jewish Living, so Absent from Jewish Educational Research

ERIC Educational Resources Information Center

Schein, Jeffrey

2016-01-01

The Jewish world, like the world civilization that hosts it, is awash in new technologies. Appropriately, there is a great deal of attention paid to how to improve the Jewish world and Jewish identity through technology. Paradoxically there is a paucity of literature characterizing the relationship of Jews and Judaism to technology. This article…

The molecular basis of Canavan (Aspartoacylase deficiency) disease in European non-Jewish patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shaag, A.; Anikster, Y.; Glustein, J.Z.

Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable. In the present study, nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients. These included four point mutations (A305E [39.5% of the mutated alleles], C218X [15.8%], F2955 [2.6%], and G274R [5.3%]); four deletion mutations (827delGT [5.3%], 870del4 [2.6%], 566del7 [2.6%], and 527del6 [2.6%]); and one exon skip (527del108 [5.3%]). The A305E mutation is pan-European andmore » probably the most ancient mutation, identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin. In contrast, the G274R and 527del108 mutations were found only in patients of Turkish origin, and the C218X mutation was identified only in patients of Gypsy origin. Homozygosity for the A305E mutation was identified in patients with both the severe and the mild forms of Canavan disease. Mutations were identified in 31 of the 38 alleles, resulting in an overall detection rate of 81.6%. All nine mutations identified in non-Jewish patients reside in exons 4-6 of the aspartoacylase gene. The results would enable accurate genetic counseling in the families of 13 (68.4%) of 19 patients, in whom two mutations were identified in the aspartoacylase cDNA. 19 refs., 9 figs., 3 tabs.« less

New Partners in Jewish Education: Independent Afterschool Jewish Education Programs and Their Relationships with Congregational Supplementary Schools

ERIC Educational Resources Information Center

Novak Winer, Laura

2017-01-01

In recent years the Jewish community has witnessed a growth in the development of Jewish afterschool programs that provide childcare as well as Jewish educational programming to elementary age children. This possible trend may represent a diversification of options for families seeking to provide Jewish education and Jewish experiences for their…

Jewish Women's Psychological Well-Being: The Role of Attachment, Separation, and Jewish Identity

ERIC Educational Resources Information Center

Goldberg, Julie L.; O'Brien, Karen M.

2005-01-01

The purpose of this study was to examine the contributions of attachment, separation, and Jewish identity to psychological well-being in a sample of 115 late adolescent Jewish women. Results from multiple regression analyses demonstrated that attachment to parents, separation from parents, and Jewish identity collectively accounted for variance in…

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

PubMed Central

Sims, KB; Pastores, GM; Weinreb, NJ; Barranger, J; Rosenbloom, BE; Packman, S; Kaplan, P; Mankin, H; Xavier, R; Angell, J; Fitzpatrick, MA; Rosenthal, D

2008-01-01

Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 2008: 73: 430–440. © Blackwell Munksgaard, 2008 Progressive skeletal disease accounts for some of the most debilitating complications of type 1 Gaucher disease. In this 48-month, prospective, non-randomized, open-label study of the effect of enzyme replacement therapy on bone response, 33 imiglucerase-naïve patients (median age 43 years with one or more skeletal manifestations such as osteopenia, history of bone crisis, or other documented bone pathology) received imiglucerase 60 U/kg/2 weeks. Substantial improvements were observed in bone pain (BP), bone crises (BC), and bone mineral density (BMD). Improvements in BP were observed at 3 months (p < 0.001 vs baseline) and continued progressively throughout the study, with 39% of patients reporting pain at 48 months vs 73% at baseline. Eleven of the 13 patients with a pre-treatment history of BC had no recurrences. Biochemical markers for bone formation increased; markers for bone resorption decreased. Steady improvement of spine and femoral neck BMD, measured using dual-energy X-ray absorptiometry was noted. Mean Z score for spine increased from −0.72 ± 1.302 at baseline to near-normal levels (−0.09 ± 1.503) by month 48 (p = 0.042) and for femoral neck from −0.59 ± 1.352 to −0.17 ± 1.206 (p = 0.035) at month 36. This increase was sustained at 48 months. With imiglucerase treatment, patients should anticipate resolution of BC, rapid improvement in BP, increases in BMD, and decreased skeletal complications. PMID:18312448

Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent.

PubMed

Ilan, Yaron; Elstein, Deborah; Zimran, Ari

2009-10-01

Gaucher disease (GD) is caused by the reduced activity of a lysosomal enzyme, glucocerebrosidase, leading to the accumulation of glucocerebroside (GC). The relatively high prevalence of this disease within an ethnic group is believed to reflect a selective advantage. Treatment with enzyme replacement therapy (ERT) is safe and effective in ameliorating the primary symptoms of the disease, yet there have been reports that some patients on ERT have developed type 2 diabetes or metabolic syndrome, malignancies and central nervous system disorders. A series of animal studies suggest that these complications may be related to the reduction of GC levels by the enzyme administered. GC has been shown to have an immunomodulatory effect through the promotion of dendritic cells, natural killer T cells, and regulatory T cells. The break down of GC to ceramide can underline part of these findings. Clinical trials suggested a beneficial effect of GC in type 2 diabetes or nonalcoholic steatohepatitis. This review of the data from animal models and humans proposes that the increased level of GC may provide an evolutionary advantage for patients with GD. Indirectly, these data support treating symptomatic patients with mild/moderate GD with low-dose ERT and re-evaluating the use of ERT in asymptomatic patients.

"Low Income"--Levels in the Jewish Population; The "Jewish Poor" in Los Angeles. A Summary of Findings.

ERIC Educational Resources Information Center

Massarik, Fred

The concept "Jewish Poor" is defined simply as Jewish households (viz. households containing one or more persons defined as Jewish) whose total household cash income (1969, comparable to U.S. Census) was under 4000 dollars. The data were obtained from four sources: (1) analysis of "Jewish Poor" drawn from Los Angeles phase of…

Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease.

PubMed

García-Moreno, M Isabel; de la Mata, Mario; Sánchez-Fernández, Elena M; Benito, Juan M; Díaz-Quintana, Antonio; Fustero, Santos; Nanba, Eiji; Higaki, Katsumi; Sánchez-Alcázar, José A; García Fernández, José M; Ortiz Mellet, Carmen

2017-03-09

Amphiphilic glycomimetics encompassing a rigid, undistortable nortropane skeleton based on 1,6-anhydro-l-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to behave as pharmacological chaperones (PCs) that efficiently rescue lysosomal β-glucocerebrosidase mutants associated with the neuronopathic variants of Gaucher disease (GD), including the highly refractory L444P/L444P and L444P/P415R single nucleotide polymorphs, in patient fibroblasts. The body of work here presented includes the design criteria for the PC prototype, the synthesis of a series of candidates, the characterization of the PC:βCD complexes, the determination of the selectivity profiles toward a panel of commercial and human lysosomal glycosidases, the evaluation of the chaperoning activity in type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (adult neuronopathic) GD fibroblasts, the confirmation of the rescuing mechanism by immunolabeling, and the analysis of the PC:GCase binding mode by docking experiments.

Considering the Informal Jewish Educator

ERIC Educational Resources Information Center

Winer, Laura Novak

2007-01-01

Informal Jewish education can and must put greater focus on the goals of education. While socialization is a key component, it is not its sole goal. Informal Jewish education must make more central deep, serious Jewish learning in which learners can experience moments of transcendence, connection, and transformation. A key to reaching this goal…

Jewish ethics and xenotransplantation.

PubMed

Mathieu, Richard

2016-07-01

Although exclusively secular approaches to xenotransplantation are methodologically necessary to establish a fundamental verdict on its theoretical ethical acceptability, it is nevertheless pragmatically appropriate to take into account specifically religious positions, as religion is a factor relevant to societal acceptability. Apart from the aspect of societal acceptability, Jewish bioethics, like other religiously embedded ethics, may enrich the broader ethical discourse on xenotransplantation, as some of its principles-pikuach nefesh being the most prominent one-are plausible even in the framework of secular ethics. This paper first explores concepts of normativity in Jewish ethics before identifying specific ethical issues in Jewish bioethics and possible resolutions offered within the framework of Jewish ethics, and then finally examine the implications for the broader debate on xenotransplantation. Religions in general and Judaism in specific cannot and should not be systematically excluded from ethical debates, not only because they may provide helpful input, but also because religion, religiousness and the affiliation to a religion can be crucial factors regarding the societal acceptability of specific medical technologies and procedures as they may be important aspects of an individual's identity. The principles of Jewish bioethics may be compelling to those who do not necessarily share the specifically religious prerequisites on which Jewish ethics is established. Among these rather cogent concepts is the status of natural law and naturalness, which is far more open to medical technologies and procedures deemed as unnatural and thus morally wrong by other religious parties in public discourse. Jewish ethics has strong tendencies toward supporting xenotransplantation given a certain criteria is met. No categorical bans on xenotransplantation can be established on the grounds of Halacha. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Internalization of Jewish Values by Children Attending Orthodox Jewish Schools, and Its Relationship to Autonomy-Supportive Parenting and Adjustment

ERIC Educational Resources Information Center

Cohen, Lori R.; Milyavskaya, Marina; Koestner, Richard

2009-01-01

The present study examined the way in which children attending Orthodox Jewish schools internalize the value of both their Jewish studies and secular studies, as well as the value of Jewish cultural practices. A distinction was made between identified internalization, where children perceive Jewish studies and Jewish culture to be an important…

Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction.

PubMed

Elstein, Deborah; Guedalia, Judith; Doniger, Glen M; Simon, Ely S; Antebi, Vered; Arnon, Yael; Zimran, Ari

2005-02-01

Because of concern for drug-induced cognitive dysfunction during clinical trials using substrate reduction therapy (miglustat) in type 1 Gaucher disease and because it has been suggested that some patients with type 1 Gaucher disease may develop neurocognitive impairment as part of the natural history, two different batteries of neuropsychological tests were devised to examine these issues. Using these tests, cognitive function was assessed in patients treated with miglustat, in patients receiving enzyme replacement (standard care for symptomatic patients), and in untreated (milder) patients. For this study, 55/60 patients exposed to miglustat in Israel participated in psychologist-administered testing; 36/55 participated in computerized testing. Of these, 31 enzyme-treated patients and 22 untreated patients participated in the psychologist-administered testing, and 15 enzyme-treated patients and 18 untreated patients participated in computerized testing. The psychologist-administered battery consisted of 18 standard neuropsychological subtests specific to executive and visuospatial functioning. The computerized battery (Mindstreams, NeuroTrax Corp., New York, NY) consisted of 10 subtests tapping multiple cognitive domains. Between-group analyses for each modality compared cognitive performance. In the psychologist-administered testing, patients exposed to miglustat performed significantly less well than the other groups in 5/18 subtests. On the computerized tests, all patients performed comparably to normal controls. Scores in patients exposed to miglustat were higher than in untreated patients, particularly in visuospatial function, whereas enzyme-treated patients performed less well. However, with the exception of visuospatial function, these results were not statistically significant. It is unclear why different testing methods yielded discordant results. Any dysfunction suggested by the current study is apparently subtle and of doubtful clinical relevance

Bioethics for clinicians: 22. Jewish bioethics

PubMed Central

Goldsand, Gary; Rosenberg, Zahava R.S.; Gordon, Michael

2001-01-01

Jewish bioethics in the contemporary era emerges from the traditional practice of applying principles of Jewish law (Halacha) to ethical dilemmas. The Bible (written law) and the Talmud (oral law) are the foundational texts on which such deliberations are based. Interpretation of passages in these texts attempts to identify the duties of physicians, patients and families faced with difficult health care decisions. Although Jewish law is an integral consideration of religiously observant Jews, secularized Jewish patients often welcome the wisdom of their tradition when considering treatment options. Jewish bioethics exemplifies how an ethical system based on duties may differ from the secular rights-based model prevalent in North American society. PMID:11332319

Jewish Learning in American Universities: The First Century. The Modern Jewish Experience.

ERIC Educational Resources Information Center

Ritterband, Paul; Wechsler, Harold S.

This book examines the evolution of Jewish studies as an academic discipline within the history and sociology of higher education in the United States from the late 19th century to the present. Chapter 1 discusses the effects of European and American academic history on the late 19th-century appearance of Jewish learning in American universities.…

Gender Role Socialization in Jewish Men.

ERIC Educational Resources Information Center

Lasser, Jon; Gottlieb, Michael C.

There has been little empirical research on the gender role socialization of Jewish men. This paper explores Jewish male gender role socialization and provides a model by which gender and ethnicity may be studied. A description of the gender role socialization of Jewish men, with an emphasis on advantages and disadvantages of such socialization…

Illegal Drug Use in Orthodox Jewish Adolescents.

PubMed

Fogel, Joshua

2004-01-01

Orthodox Jewish adolescents are increasingly seeking stimulation with illegal drugs. Eleven Orthodox Jewish adolescents were surveyed with semi-structured interviews on the Orthodox Jewish cultural aspects of their illegal drug use. Adolescents had mixed beliefs about religious teachings affecting their illegal drug use. No consistent pattern existed for particular ethnic aspects of Orthodox Jewish religious practice as a risk factor for illegal drug use. Language used to describe illegal drug use in this population is described. Unlike illegal drug use in secular and non-Jewish adolescents, these adolescents reported very little family discord or poor relationships with their parents.

Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones.

PubMed

Baris, Hagit N; Weisz Hubshman, Monika; Bar-Sever, Zvi; Kornreich, Liora; Shkalim Zemer, Vered; Cohen, Ian J

2016-09-01

Bone crises in type 1 Gaucher disease are reported in long bones and occasionally in weight bearing bones and other bones, but rarely in small bones of the hands and feet. We retrospectively examined the incidence of bone pain in patients followed at the Rabin Medical Center, Israel, before and following the initiation of enzyme replacement therapy (ERT) and evaluated them for bone crises. Of 100 type I Gaucher disease patients, 30 (30%) experienced one or more bone crises. Small bone crises represented 31.5% of all bone crises and were always preceded by crises in other bones. While the incidence of long bone crises reduced after the initiation of ERT, small bone crises increased. Almost 60% of patients with bone crises were of the N370S/84GG genotype suggesting a greater susceptibility of N370S/84GG patients to severe bone complications. These patients also underwent the greatest number of splenectomies (70.6% of splenectomised patients). Splenectomised patients showed a trend towards increased long and small bone crises after surgery. Active investigation of acute pain in the hands and feet in patients in our cohort has revealed a high incidence of small bone crises. Physicians should consider imaging studies to investigate unexplained pain in these areas. Copyright © 2015 Elsevier Inc. All rights reserved.

[The importance of Jewish nursing in World War I as shown by the example of the Jewish nurses' home in Stuttgart].

PubMed

Ruess, Susanne

2010-01-01

The history of Jewish nursing in World War I has so far not been central to medical history research. Rosa Bendit's war diary is still the only source available on the voluntary service Jewish nurses provided during World War I. Their number was small compared to that of nurses in general. Jewish nursing in Germany has hardly been researched. Jewish nurses, like their Christian colleagues, took on wartime nursing tasks voluntarily. This paper will focus on the experiences of the nurses who were sent to various locations in East and West by the Stuttgart Jewish Nurses' Home. Based on quotations from the war diary their position within the medical service will be described, compared and analyzed. The paper draws attention to special characteristics in the comparison ofJewish and Christian nurses and explores issues such as religious observance, religious discrimination, patriotism and differences in the evaluation of the nurses' work. A brief outline of the history of the Stuttgart Jewish Nurses' Home illustrates their working conditions. The Jewish nurses applied themselves with as much effort and devotion as their Christian counterparts. Although there were only few of them, the Jewish nurses managed to establish a recognized position for themselves within the medical service. The history of Jewish nursing in Stuttgart ended in 1941 when the Jewish Nurses' Home was dissolved by the Nazis and four nurses were murdered in concentration camps.

Genetic markers cannot determine Jewish descent

PubMed Central

Falk, Raphael

2015-01-01

Humans differentiate, classify, and discriminate: social interaction is a basic property of human Darwinian evolution. Presumably inherent differential physical as well as behavioral properties have always been criteria for identifying friend or foe. Yet, biological determinism is a relatively modern term, and scientific racism is, oddly enough, largely a consequence or a product of the Age of Enlightenment and the establishment of the notion of human equality. In recent decades ever-increasing efforts and ingenuity were invested in identifying Biblical Israelite genotypic common denominators by analysing an assortment of phenotypes, like facial patterns, blood types, diseases, DNA-sequences, and more. It becomes overwhelmingly clear that although Jews maintained detectable vertical genetic continuity along generations of socio-religious-cultural relationship, also intensive horizontal genetic relations were maintained both between Jewish communities and with the gentile surrounding. Thus, in spite of considerable consanguinity, there is no Jewish genotype to identify. PMID:25653666

[Gaucher's disease and imiglucerase in 2009/2010: what leads to a suddenly enforced prioritisation?].

PubMed

Hofstetter, K; Raspe, H; Stumpf, S; Framke, S

2015-02-01

Gaucher's disease is, when left untreated, a progressive and in some subsets even life-threatening lysosomal storage disease. It is caused by a genetically linked deficit of acid beta-glucocerebrosidase. The enzyme can be replaced by Cerezyme(®)/imiglucerase produced by Genzyme Corp. The therapy has the potential to induce remis-sion and normalise the patient's life. In June 2009 Genzyme had to announce a viral contamination of its bioreactors which led to a sudden stop of the entire production of imiglucerase. Subsequently only 50-20% of the former supply could be provided worldwide. The situation was not normalised until the beginning of the year 2011. Due to this unexpected shortage the relevant actors had to clarify quickly and unprepared which patient groups to prioritise and whom to supply with what quantities of imiglucerase. The shortly enforced prioritisation and rationing provide an opportunity to describe and analyse the spontaneously choosen prioritisation criteria and reveal value preferences shared by clinicians, patients, patient representatives, and company representatives. To reconstruct the chain of events and reactions and the revealed criteria and value preferences partly standardised interviews with representatives of the relevant stakeholder groups were conducted. Very clearly, the actors spontaneously chose to follow a medical need and a social solidarity principle. © Georg Thieme Verlag KG Stuttgart · New York.

Teaching Jewish-Christian Relations in the University Classroom.

ERIC Educational Resources Information Center

Shermis, Michael, Ed.

1988-01-01

This special issue on "Teaching Jewish-Christian Relations in the University Classroom" is meant to be a resource for those involved in Jewish studies and who teach about Jewish-Christian relations. It offers an introduction to the topics of the Jewish-Christian encounter, Israel, anti-Semitism, Christian Scriptures, the works of Elie…

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.

PubMed

McNeill, Alisdair; Magalhaes, Joana; Shen, Chengguo; Chau, Kai-Yin; Hughes, Derralyn; Mehta, Atul; Foltynie, Tom; Cooper, J Mark; Abramov, Andrey Y; Gegg, Matthew; Schapira, Anthony H V

2014-05-01

Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing Parkinson's disease. Indeed, glucocerebrosidase mutations are the most frequent risk factor for Parkinson's disease in the general population. Therefore there is an urgent need to understand the mechanisms by which glucocerebrosidase mutations predispose to neurodegeneration to facilitate development of novel treatments. To study this we generated fibroblast lines from skin biopsies of five patients with Gaucher disease and six heterozygous glucocerebrosidase mutation carriers with and without Parkinson's disease. Glucosylceramidase protein and enzyme activity levels were assayed. Oxidative stress was assayed by single cell imaging of dihydroethidium. Glucosylceramidase enzyme activity was significantly reduced in fibroblasts from patients with Gaucher disease (median 5% of controls, P = 0.0001) and heterozygous mutation carriers with (median 59% of controls, P = 0.001) and without (56% of controls, P = 0.001) Parkinson's disease compared with controls. Glucosylceramidase protein levels, assessed by western blot, were significantly reduced in fibroblasts from Gaucher disease (median glucosylceramidase levels 42% of control, P < 0.001) and heterozygous mutation carriers with (median 59% of control, P < 0.001) and without (median 68% of control, P < 0.001) Parkinson's disease. Single cell imaging of dihydroethidium demonstrated increased production of cytosolic reactive oxygen species in fibroblasts from patients with Gaucher disease (dihydroethidium oxidation rate increased by a median of 62% compared to controls, P < 0.001) and heterozygous mutation carriers with (dihydroethidium oxidation rate increased by a median of 68% compared with controls, P < 0.001) and without (dihydroethidium oxidation rate increased by a

Binding of 3,4,5,6-Tetrahydroxyazepanes to the Acid-[beta]-glucosidase Active Site: Implications for Pharmacological Chaperone Design for Gaucher Disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Orwig, Susan D.; Tan, Yun Lei; Grimster, Neil P.

2013-03-07

Pharmacologic chaperoning is a therapeutic strategy being developed to improve the cellular folding and trafficking defects associated with Gaucher disease, a lysosomal storage disorder caused by point mutations in the gene encoding acid-{beta}-glucosidase (GCase). In this approach, small molecules bind to and stabilize mutant folded or nearly folded GCase in the endoplasmic reticulum (ER), increasing the concentration of folded, functional GCase trafficked to the lysosome where the mutant enzyme can hydrolyze the accumulated substrate. To date, the pharmacologic chaperone (PC) candidates that have been investigated largely have been active site-directed inhibitors of GCase, usually containing five- or six-membered rings, suchmore » as modified azasugars. Here we show that a seven-membered, nitrogen-containing heterocycle (3,4,5,6-tetrahydroxyazepane) scaffold is also promising for generating PCs for GCase. Crystal structures reveal that the core azepane stabilizes GCase in a variation of its proposed active conformation, whereas binding of an analogue with an N-linked hydroxyethyl tail stabilizes GCase in a conformation in which the active site is covered, also utilizing a loop conformation not seen previously. Although both compounds preferentially stabilize GCase to thermal denaturation at pH 7.4, reflective of the pH in the ER, only the core azepane, which is a mid-micromolar competitive inhibitor, elicits a modest increase in enzyme activity for the neuronopathic G202R and the non-neuronopathic N370S mutant GCase in an intact cell assay. Our results emphasize the importance of the conformational variability of the GCase active site in the design of competitive inhibitors as PCs for Gaucher disease.« less

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

PubMed Central

Xu, YH; Sun, Y; Ran, H; Quinn, B; Witte, D; Grabowski, GA

2011-01-01

Gaucher disease, a prevalent lysosomal storage disease, is caused by insufficient activity of acid β-glucosidase (GCase) and resultant glucosylceramide accumulation. Recently in Parkinson disease (PD) patients, heterozygous mutations in GCase have been associated with earlier onset and more progressive PD. To understand the pathogenic relationships between GCase variants and Parkinsonism, α-synuclein and ubiquitin distributions and levels in the brains of several mouse models containing GCase variants were evaluated by immunohistochemistry. Progressive α-synuclein and ubiquitin aggregate accumulations were observed in the cortex, hippocampus, basal ganglia, brainstem, and some cerebellar regions between 4-24 wks in mice that were homozygous for GCase [D409H (9H) or V394L (4L)] variants and also had a prosaposin hypomorphic (PS-NA) transgene. In 4L/PS-NA and 9H/PS-NA mice, this was coincident with progressive neurological manifestations and brain glucosylceramide accumulation. Ultrastructural studies showed electron dense inclusion bodies in neurons and axons of 9H/PS-NA brains. α-Synuclein aggregates were also observed in ventricular, brainstem, and cerebellar regions of older mice (>42-wk) with the GCase variant (D409H/D409H) without overt neurological disease. In a chemically induced GCase deficiency, α-synuclein aggregates and glucosylceramide accumulation also occurred. These studies demonstrate a relationship between glucosylceramide accumulation and α-synuclein aggregates, and implicate glucosylceramide accumulation as risk factor for the α-synucleinopathies. PMID:21257328

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

PubMed

Shao, Yunru; Liu, Shuling; Grinzaid, Karen

2015-04-01

Improvements in genetic testing technologies have led to the development of expanded carrier screening panels for the Ashkenazi Jewish population; however, there are major inconsistencies in current screening practices. A 2-year pilot program was launched in Atlanta in 2010 to promote and facilitate screening for 19 Jewish genetic diseases. We analyzed data from this program, including participant demographics and outreach efforts. This retrospective analysis is based on a de-identified dataset of 724 screenees. Data were obtained through medical chart review and questionnaires and included demographic information, screening results, response to outreach efforts, and follow-up behavior and preferences. We applied descriptive analysis, chi-square tests, and logistic regression to analyze the data and compare findings with published literature. The majority of participants indicated that they were not pregnant or did not have a partner who was pregnant were affiliated with Jewish organizations and reported 100 % AJ ancestry. Overall, carrier frequency was 1 in 3.9. Friends, rabbis, and family members were the most common influencers of the decision to receive screening. People who were older, had a history of pregnancy, and had been previously screened were more likely to educate others (all p < 0.05). Analysis of this 2-year program indicated that people who are ready to have children or expand their families are more likely to get screened and encourage others to be screened. The most effective outreach efforts targeted influencers who then encouraged screening in the target population. Educating influencers and increasing overall awareness were the most effective outreach strategies.

[Debates on the "Jewish nurse" within the Jewish communities in Austro-Hungary around 1900].

PubMed

Malleier, Elisabeth

2008-01-01

The debate about the organisation of nursing became acute during the last decades of the 19th century when big modern Jewish hospitals were built in several cities of the Habsburg Monarchy. This led to an increase in the demand for nurses and to the initiation of a discussion about the professionalisation of Jewish nursing. In these debates different actors with different intentions were involved. While hospitals were looking mainly for inexpensive and unlimited working nurses, middle-class organisations such as B'nai B'rith emphasised the necessity for women to learn a useful profession to be able to support their husbands economically. Furthermore, feminists and women's associations tried to set new standards for female education, emphasising economic independence and improving the working conditions for women. Jewish feminists such as Henriette Weiss in Vienna, Ida Fuerst in Budapest, and Julie Leipen in Prague tried to build up Jewish nursing schools. The different strategies of implementations and the result of their efforts will be the main focus of this paper.

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

PubMed

Peter, Inga; Mitchell, Adele A; Ozelius, Laurie; Erazo, Monica; Hu, Jianzhong; Doheny, Dana; Abreu, Maria T; Present, Daniel H; Ullman, Thomas; Benkov, Keith; Korelitz, Burton I; Mayer, Lloyd; Desnick, Robert J

2011-05-06

Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches.

Jewish views on abortion.

PubMed

Jakobovits, I

1968-01-01

In Jewish law right and wrong, good and evil, are absolute values which transcend time, place, and environment. They defy definition by human intuition or expediency. Jewish law derives from the Divine revelation at Mount Sinai as expounded by sages faithful to, and authorized by, its writ. The Talmud rules that if a woman is in hard travail, and her life must be saved, the child must be aborted and extracted. The mother's life comes first. The fetus is not a human life until it is born. But 19th century Rabbinical works state that it is immoral to destroy a monster child. Modern rabbis are unanimous in condemning abortion, feticide, or infanticide as an unconscionable attack on human life. However, Jewish law allows abortion if the pregnancy will cause severe psychological damage to the mother. No civilized society could survive without laws which occasionally cause some suffering or personal anguish. One human life is worth a million lives, because each life is infinite in value. In cases of rape or incest Jewish law still does not sanction abortion. Man's procreative responsibilities are serious and carry rights and obligations which would be upset by liberalized abortion laws. If a person kills a person who is mortally wounded, the killer is guilty of a moral offense.

The management of Gaucher disease in developing countries: a successful experience in Southern Brazil.

PubMed

Krug, B C; Schwartz, I V; Lopes de Oliveira, F; Alegra, T; Campos Martins, N L; Todeschini, L A; Picon, P D

2010-01-01

Gaucher disease (GD) is a genetic disease caused by glucocerebrosidase deficiency. GD is treated by enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug provided by the Brazilian Ministry of Health (BMH). This study reports the implementation of the BMH guidelines for GD in the southernmost state of the country. We review the clinical and laboratorial data for patients seen at the reference center for GD from Rio Grande do Sul, Brazil (July 2003 to June 2006). Twenty-five patients were included in this study. At baseline, 19/20 were on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion), 3/17 presented anemia, and 5/16 thrombocytopenia. The amount of imiglucerase prescribed to these patients was adjusted according to the guidelines in July 2003; out of them, 18 were receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion), 2/18 presented anemia, and 4/18 presented thrombocytopenia. The analysis of the liver, spleen, and bone data presented some limitations, but the available information suggests that patients did not deteriorate. GD patients who initiated ERT after July 2003 (n = 5) received lower dosage of imiglucerase since the beginning of the treatment; most of them demonstrated clinical and laboratorial response. From baseline to month 36, the consumption of imiglucerase by the reference center showed a significant reduction, which represented savings of USD 3 million to the public health system. The model of care of GD patients suggested by the BMH guidelines appears to be cost-effective and could be an example for management of rare diseases in underdeveloped countries. Copyright © 2009 S. Karger AG, Basel.

Selection of transduced CD34+ progenitors and enzymatic correction of cells from Gaucher patients, with bicistronic vectors.

PubMed Central

Migita, M; Medin, J A; Pawliuk, R; Jacobson, S; Nagle, J W; Anderson, S; Amiri, M; Humphries, R K; Karlsson, S

1995-01-01

The gene transfer efficiency of human hematopoietic stem cells is still inadequate for efficient gene therapy of most disorders. To overcome this problem, a selectable retroviral vector system for gene therapy has been developed for gene therapy of Gaucher disease. We constructed a bicistronic retroviral vector containing the human glucocerebrosidase (GC) cDNA and the human small cell surface antigen CD24 (243 bp). Expression of both cDNAs was controlled by the long terminal repeat enhancer/promoter of the Molony murine leukemia virus. The CD24 selectable marker was placed downstream of the GC cDNA and its translation was enhanced by inclusion of the long 5' untranslated region of encephalomyocarditis virus internal ribosomal entry site. Virus-producing GP+envAM12 cells were created by multiple supernatant transductions to create vector producer cells. The vector LGEC has a high titer and can drive expression of GC and the cell surface antigen CD24 simultaneously in transduced NIH 3T3 cells and Gaucher skin fibroblasts. These transduced cells have been successfully separated from untransduced cells by fluorescence-activated cell sorting, based on cell surface expression of CD24. Transduced and sorted NIH 3T3 cells showed higher GC enzyme activity than the unsorted population, demonstrating coordinated expression of both genes. Fibroblasts from Gaucher patients were transduced and sorted for CD24 expression, and GC enzyme activity was measured. The transduced sorted Gaucher fibroblasts had a marked increase in enzyme activity (149%) compared with virgin Gaucher fibroblasts (17% of normal GC enzyme activity). Efficient transduction of CD34+ hematopoietic progenitors (20-40%) was accomplished and fluorescence-activated cell sorted CD24(+)-expressing progenitors generated colonies, all of which (100%) were vector positive. The sorted, CD24-expressing progenitors generated erythroid burst-forming units, colony-forming units (CFU)-granulocyte, CFU-macrophage, CFU

Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.

PubMed

Grinzaid, Karen Arnovitz; Page, Patricia Zartman; Denton, Jessica Johnson; Ginsberg, Jessica

2015-06-01

Ethnicity-based carrier screening for the Ashkenazi Jewish population has been available and encouraged by advocacy and community groups since the early 1970's. Both the American College of Medical Genetics and the American Congress of Obstetricians and Gynecologists recommend carrier screening for this population (Obstetrics and Gynecology, 114(4), 950-953, 2009; Genetics in Medicine, 10(1), 55-56, 2008). While many physicians inquire about ethnic background and offer appropriate carrier screening, studies show that a gap remains in implementing recommendations (Genetic testing and molecular biomarkers, 2011). In addition, education and outreach efforts targeting Jewish communities have had limited success in reaching this at-risk population. Despite efforts by the medical and Jewish communities, many Jews of reproductive age are not aware of screening, and remain at risk for having children with preventable diseases. Reaching this population, preferably pre-conception, and facilitating access to screening is critically important. To address this need, genetic counselors at Emory University developed JScreen, a national Jewish genetic disease screening program. The program includes a national marketing and PR campaign, online education, at-home saliva-based screening, post-test genetic counseling via telephone or secure video conferencing, and referrals for face-to-face genetic counseling as needed. Our goals are to create a successful education and screening program for this population and to develop a model that could potentially be used for other at-risk populations.

75 FR 25099 - Jewish American Heritage Month, 2010

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-07

... 8513 of April 30, 2010 Jewish American Heritage Month, 2010 By the President of the United States of... also maintained their own unique identity. During Jewish American Heritage Month we celebrate this... Jewish American Heritage Month. I call upon all Americans to observe this month with appropriate programs...

Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

PubMed Central

2011-01-01

Background Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. Methods We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Results Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). Conclusions CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches. PMID:21548950

[Neurological manifestations in patients with Gaucher disease and in their relatives].

PubMed

Giraldo, Pilar; Capablo, José Luis; Alfonso, Pilar; Latre, Paz; García, Beatriz; Pocoví, Miguel

2008-07-05

Gaucher disease (GD) is characterized by a wide spectrum of manifestations. Previous reports indicate that GD relatives could develop neurological abnormalities more frequently than the general population. We aimed to know the presence of neurological symptoms (NS) in GD patients and their relatives. From January to December 2006 we performed a postal survey contacting 42 physicians and 92 families to evaluate NS and correlate them with genetic characteristics. Statistical analysis using descriptive parameters, ANOVA, t-test and a correlation study including Pearson coefficient were performed. Information from 72 families (78.3% responses) including 99 patients and 266 relatives was obtained. Thirty type 1 GD (32.6%) reported NS: tremor 8 (8.7%), uncoordinated movements 9 (9.8%), concentration defects 11 (11.9%), strabism 7 (7.6%), deafness 8 (8.7%), Parkinson disease (PD) 7 (7.6%) and peripheral neuropathy 10 (10.9%). Thirty-six (13.5%) first or second degrees relatives presented the following NS: PD 14 (4.9%), epilepsy 8 (3.0%), tremor 7 (2.6%), deafness 2 (0.7%) and others 5 (1.9%). 17.3% of carriers had NS versus 5.7% in non-carriers (p = 0.0096). Patients with PD had mutations in S364R, D409H, L444P, [IVS4-2a ==> g; c.(-203)A ==> G], c.500insT and L336P. In relatives with PD a wide spectrum of mutations was observed: L444P, N370S, V398I, G202R, c.1439-1445del7, [E326K; N188S] and c.953delT. In other NS, predominant mutations were D409H, G195W, R120W, R147X, L336P and G377S. A higher incidence than expected of PD and other NS in GD type 1 patients and relatives was observed. These manifestations appear frequently in L444P or rare mutations carriers. It is important to perform a systematic neurological exam in type 1 GD patients and carriers with risk mutations.

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.

PubMed

Motta, Irene; Filocamo, Mirella; Poggiali, Erika; Stroppiano, Marina; Dragani, Alfredo; Consonni, Dario; Barcellini, Wilma; Gaidano, Gianluca; Facchini, Luca; Specchia, Giorgina; Cappellini, Maria Domenica

2016-04-01

Gaucher disease (GD) is the most common lysosomal disorder resulting from deficient activity of the β-glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage-monocyte system. Notably, because of non-specific symptoms and a lack of awareness, patients with GD experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify GD type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and/or thrombocytopenia and, eventually, to estimate the prevalence of GD in this selected population. One hundred and ninety-six subjects (61 females, 135 males; mean age 47.8 ± 18.2 years) have been enrolled in the study and tested for β-glucosidase enzyme activity on dried blood spot (DBS). Seven of 196 patients have been diagnosed with GD, (5 females and 2 males) with mean age 31.8 ± 8.2 years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4-7.2; 1/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as DBS, are important tools to facilitate the diagnosis of a rare disease even for not disease-expert physicians. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Teaching Jewish History to the "Other."

ERIC Educational Resources Information Center

Goffman, Daniel

1991-01-01

Presents a course in Jewish history and culture for non-Jewish students. Stresses the importance of understanding and respecting all cultures, eliminating cultural stereotypes, and preventing polarization and xenophobia. Includes a weekly course syllabus and bibliography. Discusses the importance of countering stereotypes before presenting some…

Jewish College Women: Future Leaders of the Jewish Community?

ERIC Educational Resources Information Center

Lavender, Abraham D.

1977-01-01

It is concluded from this data that the American Jewish community deprives itself of many needed talents to the extent that it does not encourage participation in its leadership positions of all individuals, regardless of sex. (Author/AM)

A New Approach to Jewish Divorce.

ERIC Educational Resources Information Center

Eisenstein, Ira

1983-01-01

Describes recent changes in the traditional Jewish law of divorce, which permits a husband to divorce his wife but does not sanction the wife's divorcing him. The rabbis of the Reconstructionist Movement in Judaism have innovated an egalitarian divorce to prevent Jewish women from becoming abandoned wives. (JAC)

Remembering More Jewish Physicians

PubMed Central

Weisz, George M.; Grzybowski, Andrzej

2016-01-01

The history of medicine has been an intriguing topic for both authors. The modern relevance of past discoveries led both authors to take a closer look at the lives and contributions of persecuted physicians. The Jewish physicians who died in the Holocaust stand out as a stark example of those who merit being remembered. Many made important contributions to medicine which remain relevant to this day. Hence, this paper reviews the lives and important contributions of two persecuted Jewish physicians: Arthur Kessler (1903–2000) and Bronislawa Fejgin (1883–1943). PMID:27487308

Bagels, Schnitzel and McDonald's--"Fuzzy Frontiers" of Jewish Identity in an English Jewish Secondary School

ERIC Educational Resources Information Center

Scholefield, Lynne

2004-01-01

Using data gathered during a case study of the "culture" of a Jewish secondary school, this article explores the indeterminate boundaries of Jewish identity. By examining the mechanisms that control what and who comes into the school, and what is approved and disapproved of in the school, a picture emerges of what and who is counted as…

Constructivism and Jewish Early Childhood Education

ERIC Educational Resources Information Center

Muller, Meir

2013-01-01

Having an educational theory as a school's foundation is a key component in successful educational endeavors. However, many Jewish early childhood programs do not commonly use educational theory to support methods of instruction. In this study 14 children from a constructivist-based Jewish kindergarten class are interviewed to determine how they…

Childbirth customs in Orthodox Jewish traditions.

PubMed Central

Bodo, K.; Gibson, N.

1999-01-01

OBJECTIVE: To describe cultural beliefs of Orthodox Jewish families regarding childbirth in order to help family physicians enhance the quality and sensitivity of their care. QUALITY OF EVIDENCE: These findings were based on a review of the literature searched in MEDLINE (1966 to present), HEALTHSTAR (1975 to present), EMBASE (1988 to present), and Social Science Abstracts (1984 to present). Interviews with several members of the Orthodox Jewish community in Edmonton, Alta, and Vancouver, BC, were conducted to determine the accuracy of the information presented and the relevance of the paper to the current state of health care delivery from the recipients' point of view. MAIN MESSAGE: Customs and practices surrounding childbirth in the Orthodox Jewish tradition differ in several practical respects from expectations and practices within the Canadian health care system. The information presented was deemed relevant and accurate by those interviewed, and the subject matter was considered to be important for improving communication between patients and physicians. Improved communication and recognition of these differences can improve the quality of health care provided to these patients. CONCLUSIONS: Misunderstandings rooted in different cultural views of childbirth and the events surrounding it can adversely affect health care provided to women in the Orthodox Jewish community in Canada. A basic understanding of the cultural foundations of potential misunderstandings will help Canadian physicians provide effective health care to Orthodox Jewish women. PMID:10099807

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

PubMed

Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T

2016-02-01

The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.

Bioethics: secular philosophy, Jewish law and modern medicine.

PubMed

Steinberg, A

1989-07-01

The recent unprecedented expansion of scientific knowledge and the greater awareness and involvement of the public in medical matters, as well as additional causes described here, have impelled the development of a new form of bioethics over the past three decades. Jewish law and philosophy have always dealt with medical issues. In recent years, however, a voluminous body of literature devoted to Jewish medical ethics has developed. It covers all relevant issues and offers Jewish solutions to many complex problems arising from the recent scientific breakthroughs. This article analyzes the differences between Jewish and secular philosophies regarding fundamental moral theories relevant to modern medical ethics.

Jewishly-Informed Mature Adult Service-Learning

ERIC Educational Resources Information Center

Bretan, Gail Helene

2013-01-01

The purpose of this study is to describe, implement, and interpret the intersection of service-learning, Jewish values and ways of knowing, adult education, and lifelong learning for people over the age of 50. By expanding service-learning to include both older adults and Jewish ways of knowing, there is potential for transforming these frameworks…

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease.

PubMed

Sharma, Gulshan B; Robertson, Douglas D; Laney, Dawn A; Gambello, Michael J; Terk, Michael

2016-06-14

Type 1 Gaucher disease (GD) is an autosomal recessive lysosomal storage disease, affecting bone metabolism, structure and strength. Current bone assessment methods are not ideal. Semi-quantitative MRI scoring is unreliable, not standardized, and only evaluates bone marrow. DXA BMD is also used but is a limited predictor of bone fragility/fracture risk. Our purpose was to measure trabecular bone microarchitecture, as a biomarker of bone disease severity, in type 1 GD individuals with different GD genotypes and to apply machine learning based analytics to discriminate between GD patients and healthy individuals. Micro-MR imaging of the distal radius was performed on 20 type 1 GD patients and 10 healthy controls (HC). Fifteen stereological and textural measures (STM) were calculated from the MR images. General linear models demonstrated significant differences between GD and HC, and GD genotypes. Stereological measures, main contributors to the first two principal components (PCs), explained ~50% of data variation and were significantly different between males and females. Subsequent PCs textural measures were significantly different between GD patients and HC individuals. Textural measures also significantly differed between GD genotypes, and distinguished between GD patients with normal and pathologic DXA scores. PCA and SVM predictive analyses discriminated between GD and HC with maximum accuracy of 73% and area under ROC curve of 0.79. Trabecular STM differences can be quantified between GD patients and HC, and GD sub-types using micro-MRI and machine learning based analytics. Work is underway to expand this approach to evaluate GD disease burden and treatment efficacy. Copyright © 2016 Elsevier Ltd. All rights reserved.

Traditional Jewish Learning: Philosophy and Practice.

ERIC Educational Resources Information Center

Pollak, Susan

Education was so much a part of Jewish thought and way of life that it was often taken for granted, e.g., the early sages never wrote an articulated plan for education principles and practices. The introduction to this overview of traditional Jewish education discusses the basic concepts of belief in the efficacy of education, the integration of…

Lysosomal storage diseases

PubMed Central

Ferreira, Carlos R.; Gahl, William A.

2016-01-01

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.

PubMed

Pastores, Gregory M; Turkia, Hadhami Ben; Gonzalez, Derlis E; Ida, Hiroyuki; Tantawy, Azza A G; Qin, Yulin; Qiu, Yongchang; Dinh, Quinn; Zimran, Ari

2016-07-01

Anti-drug antibodies may develop with biological therapies, possibly leading to a reduction of treatment efficacy and to allergic and other adverse reactions. Patients with Gaucher disease were tested for anti-drug antibodies every 6 or 12weeks in clinical studies of velaglucerase alfa enzyme replacement therapy, as part of a range of safety endpoints. In 10 studies between April 2004 and March 2015, 289 patients aged 2-84years (median 43years) were assessed for the development of anti-velaglucerase alfa antibodies. Sixty-four patients were treatment-naïve at baseline and 225 patients were switched to velaglucerase alfa from imiglucerase treatment. They received velaglucerase alfa treatment for a median of 36.4weeks (interquartile range 26.4-155.4weeks). Four patients (1.4%) became positive for anti-velaglucerase alfa IgG antibodies, two of whom had antibodies that were neutralizing in vitro, but there were no apparent changes in patients' platelet counts, hemoglobin levels or levels of CCL18 and chitotriosidase, suggestive of clinical deterioration after anti-velaglucerase alfa antibodies were detected, and no infusion-related adverse events were reported. Less than 2% of patients exposed to velaglucerase alfa tested positive for antibodies and there was no apparent correlation between anti-velaglucerase alfa antibodies and adverse events or pharmacodynamic or clinical responses. Copyright © 2016. Published by Elsevier Inc.

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease.

PubMed

Fuller, Maria; Rozaklis, Tina; Lovejoy, Melanie; Zarrinkalam, Krystyna; Hopwood, John J; Meikle, Peter J

2008-04-01

Gaucher disease (GD) is an inborn error of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme beta-glucosidase leading to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. In order to determine the effect of GC accumulation on intracellular lipid content in fibroblasts from patients with GD, we measured individual species of ceramide, di- and trihexosylceramide, sphingomyelin, phosphatidylcholine, phosphatidylinositol and phosphatidylglycerol using electrospray ionisation-tandem mass spectrometry. The different subspecies of each lipid class correlated with each other and were summed to give total lipid concentrations. In addition to GC, we also noted secondary elevations in other lipids, especially in type 2 GD. Sub-cellular fractionation showed that GC was not confined to the lysosome but increased throughout the cell. The sequelae of extra-lysosomal accumulation may have implications in the pathogenic mechanisms of GD by interaction with biochemical and metabolic pathways located outside the lysosome. The elevation of ceramide in confluent type 2 GD fibroblasts redistributed from its primary site of accumulation in the lysosome to the endosomal region at four-weeks post-confluence. The accumulation of lipids in the endosome and lysosome suggests both impaired trafficking of lipids and reduced capacity of the lysosome to degrade lipids.

Teachers' Study Guide: Jewish Legends. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Wiesel, Elie

The Jewish legends which are a major part of Jewish life and literature are the focus of this study guide for teachers. Excerpts from a lecture on Jewish legends are followed by suggestions for classroom activities, discussion topics related to the study of Jewish legends, and a bibliography for both teachers and students on Jewish legend and…

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.

PubMed

Kramer, P L; de Leon, D; Ozelius, L; Risch, N; Bressman, S B; Brin, M F; Schuback, D E; Burke, R E; Kwiatkowski, D J; Shale, H

1990-02-01

Idiopathic torsion dystonia (ITD) is a neurological disorder characterized by sustained muscle contractions that appear as twisting movements of the limbs, trunk, and/or neck, which can progress to abnormal postures. Most familial forms of ITD follow autosomal dominant transmission with reduced penetrance. The frequency of ITD in the Ashkenazi Jewish population is five to ten times greater than that in other groups. Recently, a gene for ITD (DYT1) in a non-Jewish kindred was located on chromosome 9q32-34, with tight linkage to the gene encoding gelsolin (GSN). In the present study linkage analysis using DNA polymorphisms is used to locate a gene responsible for susceptibility to ITD in 12 Ashkenazi Jewish families. This dystonia gene exhibits close linkage with the gene encoding argininosuccinate synthetase (ASS), and appears by multipoint analysis to lie in the q32-34 region of chromosome 9, a region that also contains the loci for gelsolin and dopamine-beta-hydroxylase. The same gene may be responsible for ITD both in the non-Jewish kindred mentioned above and in the Ashkenazi Jewish families presented here. However, because there is substantial difference between the penetrance of the dominant allele in these two groups, two different mutations may be operating to produce susceptibility to this disease in the two groups.

Experiential Jewish Education Has Arrived! Now What?

ERIC Educational Resources Information Center

Kress, Jeffrey S.

2014-01-01

Experiential Jewish education has been experiencing a time of growth, during which theory development, research, and practice have established a strong voice for the construct. Much of the focus to this point has been on definitions (particularly the distinction between "experiential" and "informal" Jewish education) and on…

Serum lipid alterations in GBA-associated Parkinson's disease.

PubMed

Guedes, Leonor Correia; Chan, Robin Barry; Gomes, Marcos António; Conceição, Vasco A; Machado, Raquel Bouça; Soares, Tiago; Xu, Yimeng; Gaspar, Paulo; Carriço, Joao André; Alcalay, Roy N; Ferreira, Joaquim J; Outeiro, Tiago Fleming; Miltenberger-Miltenyi, Gabriel

2017-11-01

Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations. We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2. 64 patients (29 GBA positive vs. 35 non-GBA-carriers including 18 LRRK2 positive and 17 non-mutated) were analyzed for chitotriosidase activity and for the concentration of 40 lipid classes using HPLC-MS. 29/415 patients (6.9%) carried 8 different GBA mutations associated with Gaucher or Parkinson's, including one novel mutation. Chitotriosidase activity was similar across the genetic groups, while the levels of key lipids were altered in GBA mutation carriers: Monohexosylceramide, Ceramide and Sphingomyelin were elevated; while Phosphatidic acid (PA), Phosphatidylethanolamine (PE), Plasmalogen phosphatidylethanolamine (PEp) and Acyl Phosphatidylglycerol (AcylPG) were decreased. The results suggest an important role for these lipids in GBA mediated Parkinson's disease and assist in the identification of common pathways between Gaucher and Parkinson's. Ultimately, our findings may lead to the identification of novel biomarkers for individuals at increased risk of developing Parkinson's disease. Copyright © 2017 Elsevier Ltd. All rights reserved.

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations.

PubMed

Kopelman, Naama M; Stone, Lewi; Wang, Chaolong; Gefel, Dov; Feldman, Marcus W; Hillel, Jossi; Rosenberg, Noah A

2009-12-08

Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent.

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

PubMed Central

2009-01-01

Background Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. Results We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. Conclusion These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent. PMID:19995433

Intergenerational Challenges in Australian Jewish School Education

ERIC Educational Resources Information Center

Gross, Zehavit; Rutland, Suzanne D.

2014-01-01

The aim of this research is to investigate the intergenerational changes that have occurred in Australian Jewish day schools and the challenges these pose for religious and Jewish education. Using a grounded theory approach according to the constant comparative method (Strauss 1987), data from three sources (interviews [296], observations [27],…

Human reproduction: Jewish perspectives.

PubMed

Schenker, Joseph G

2013-11-01

Developments in science and technology and corresponding clinical applications raise new religious questions, often without clear answers. The role of theology in bioethics is integral to clarify perceived attitudes toward these developments for different religious communities. The Jewish attitude towards procreation is derived from the first commandment of God to Adam to 'Be fruitful and multiply'. Judaism allows the practice of all techniques of assisted reproduction when the oocyte and spermatozoon originate from the wife and husband respectively. This paper presents the attitude of Jewish Law -- Halacha to therapeutic procedures, such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection, reproductive and therapeutic cloning.

Hitler's Jewish Physicians.

PubMed

Weisz, George M

2014-07-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler.

Contributing Factors to Teacher Satisfaction for Jewish Day School Educators

ERIC Educational Resources Information Center

Lanner, Malka

2010-01-01

At a time of rising concern for hiring and retaining qualified Jewish educators, this study looked at factors contributing to the decision to enter or remain in the field of Jewish education. If Jewish day school administrators can determine what characteristics attract and retain qualified teachers then perhaps they can mitigate the current…

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.

PubMed

Patel, Shreeya; Legood, Rosa; Evans, D Gareth; Turnbull, Clare; Antoniou, Antonis C; Menon, Usha; Jacobs, Ian; Manchanda, Ranjit

2018-04-01

Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost effective compared with family history based testing in Ashkenazi Jewish women. However, only 1 of the 3 Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG[c.68_69delAG]), 5382insC[c.5266dupC]), and 6174delT[c.5946delT]) is found in the Sephardi Jewish population (185delAG[c.68_69delAG]), and the overall prevalence of BRCA mutations in the Sephardi Jewish population is accordingly lower (0.7% compared with 2.5% in the Ashkenazi Jewish population). Cost-effectiveness analyses of BRCA testing have not previously been performed at these lower BRCA prevalence levels seen in the Sephardi Jewish population. Here we present a cost-effectiveness analysis for UK and US populations comparing population testing with clinical criteria/family history-based testing in Sephardi Jewish women. A Markov model was built comparing the lifetime costs and effects of population-based BRCA1 testing, with testing using family history-based clinical criteria in Sephardi Jewish women aged ≥30 years. BRCA1 carriers identified were offered magnetic resonance imaging/mammograms and risk-reducing surgery. Costs are reported at 2015 prices. Outcomes include breast cancer, ovarian cancer, and excess deaths from heart disease. All costs and outcomes are discounted at 3.5%. The time horizon is lifetime, and perspective is payer. The incremental cost-effectiveness ratio per quality-adjusted life-year was calculated. Parameter uncertainty was evaluated through 1-way and probabilistic sensitivity analysis. Population testing resulted in gain in life expectancy of 12 months (quality-adjusted life-year = 1.00). The baseline discounted incremental cost-effectiveness ratio for UK population-based testing was £67.04/quality-adjusted life-year and for US population was $308.42/quality-adjusted life-year. Results were robust in the 1-way sensitivity analysis. The probabilistic sensitivity analysis showed 100% of

Plant-based oral delivery of β-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease.

PubMed

Shaaltiel, Yoseph; Gingis-Velitski, Svetlana; Tzaban, Salit; Fiks, Nadia; Tekoah, Yoram; Aviezer, David

2015-10-01

Gaucher's disease (GD), a lysosomal storage disorder caused by mutations in the gene encoding glucocerebrosidase (GCD), is currently treated by enzyme replacement therapy (ERT) using recombinant GCD that is administered intravenously every 2 weeks. However, intravenous administration includes discomfort or pain and might cause local and systemic infections that may lead to low patient compliance. An orally administered drug has the potential to alleviate these problems. In this study, we describe the potential use of plant cells as a vehicle for the oral delivery of recombinant human GCD (prGCD) expressed in carrot cells. The in vitro results demonstrate that the plant cells protect the recombinant protein in the gastric fluids and may enable absorption into the blood. Feeding experiments, with rat and pig as model animals, using carrot cells containing prGCD, show that active recombinant prGCD was found in the digestive tract and blood system and reached both, liver and spleen, the target organs in GD. These results demonstrate that the oral administration of proteins encapsulated in plant cells is feasible. Specifically, carrot cells containing recombinant human prGCD can be used as an oral delivery system and are a feasible alternative to intravenous administration of ERT for GD. © 2015 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

Teaching and Learning Jewish History in the 21st Century: New Priorities and Opportunities

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2018-01-01

New 21st-century circumstances in the Jewish world--including the changing nature of Jewish identification, the retreat from identity and continuity as singular aims of Jewish education, the democratization of Jewish learning opportunities, increased emphasis on informal and experiential Jewish education activities, and demonstrable interest among…

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry

PubMed Central

Davidson, Natalie R.; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L.; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19–33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so. PMID:27010569

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry.

PubMed

Waldman, Yedael Y; Biddanda, Arjun; Davidson, Natalie R; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19-33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so.

Jewish History Engagement in an Online Simulation: Golda and Coco, Leah and Lou at the Jewish Court of All Time

ERIC Educational Resources Information Center

Katz, Meredith L.; Kress, Jeffrey S.

2018-01-01

This study investigates the Jewish history engagement for middle school students "playing" in the Jewish Court of All Time (JCAT), an online simulation of a current events court case with historical roots (http://jcat.icsmich.org). Through an online platform across several schools, students research and play historical and current…

Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.

PubMed

Michelin, Kristiane; Wajner, Alessandro; Bock, Hugo; Fachel, Angela; Rosenberg, Roberto; Pires, Ricardo Flores; Pereira, Maria Luiza Saraiva; Giugliani, Roberto; Coelho, Janice Carneiro

2005-12-01

Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the storage of glucocerebrosides in lysosomes of macrophage. No studies are available in the literature comparing biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals, obligate heterozygotes and patients with GD. The behavior of beta-glu in terms of optimum pH, heat stability, Km and Vmax in leukocytes from patients with GD and obligated heterozygotes with different genotypes and normal individuals were characterized. Optimum pH was similar in all groups analyzed. In terms of Km and Vmax, several differences among heterozygotes and homozygotes groups and among these groups and normal enzyme were observed. Enzyme from all groups were inactivated when preincubated at 60 degrees C, but some enzymes were more stable than other. Results showed a different behavior of the enzyme in the 3 groups under analysis. Such behavior varied according to individual mutation. The catalytic gradient presented by beta-glu allowed the correlation of N370S mutation-which presented more stable biochemical properties-with the non-neurological clinical condition of the disease and the catalytically less stable mutation (D409H), with the neurological clinical condition of GD. This study contributes to a better understanding of the repercussion of the different mutations on the protein function, thus allowing to predict the severity of such complex metabolic disorder and to anticipate the most appropriate intervention for each case specifically.

Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers

PubMed Central

Finkelman, Brian S.; Rubinstein, Wendy S.; Friedman, Sue; Friebel, Tara M.; Dubitsky, Shera; Schonberger, Niecee Singer; Shoretz, Rochelle; Singer, Christian F.; Blum, Joanne L.; Tung, Nadine; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Snyder, Carrie; Garber, Judy E.; Schildkraut, Joellen; Daly, Mary B.; Isaacs, Claudine; Pichert, Gabrielle; Neuhausen, Susan L.; Couch, Fergus J.; van't Veer, Laura; Eeles, Rosalind; Bancroft, Elizabeth; Evans, D. Gareth; Ganz, Patricia A.; Tomlinson, Gail E.; Narod, Steven A.; Matloff, Ellen; Domchek, Susan; Rebbeck, Timothy R.

2012-01-01

Purpose Mutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction. Methods Our cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status. Results Ninety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups. Conclusion Consistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care. PMID:22430266

Bikkur Holim: the origins of Jewish pastoral care.

PubMed

Sheer, Charles

2008-01-01

This paper surveys classical Jewish texts--from the Hebrew Bible through Medieval codes--regarding the concept and practice of Bikkur Holim, literally, "the sick visit." How does this literature understand this ethical, religious act; who are the practitioners; what are their objectives? Although the Hebrew Bible does not contain a biblical precedent or legal mandate for Bikkur Holim, various categories of pastoral actions are traced in midrashic and talmudic texts. Their nuances are examined closely and a conceptualization of Jewish pastoral care is identified in a work by thirteenth century rabbi, jurist and physician, Nahmanides. Ezekiel 34 is proposed as the source for the rabbinic term, Bikkur Holim, as well as the conceptual understanding of Jewish pastoral care. Finally, the author posits various questions regarding the implication of his findings on the conduct of Jewish pastoral care, the value of spiritual assessment, and the nature of chaplaincy work in our various religious traditions.

Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses.

PubMed

Levin, M

1999-01-01

Screening for genetic disorders, particularly Tay-Sachs Disease, has been traditionally welcome by the Jewish community. I review the history of genetic screening among Jews and the views from the Jewish tradition on the subject, and then discuss ethical challenges of screening and the impact of historical memories upon future acceptance of screening programs. Some rational principles to guide future design of genetic screening programs among Jews are proposed.

Demystifying a Black Box: A Grounded Theory of How Travel Experiences Impact the Jewish Identity Development of Jewish Emerging Adults

ERIC Educational Resources Information Center

Aaron, Scott

2015-01-01

The positive impact on the Jewish Identity Development of Jewish Emerging Adults of both the 10 day trips to Israel popularly known as Birthright trips and the service learning trips commonly known as Alternative Spring Breaks has been well-documented. However, the mechanics of how this positive impact occurs has not been well-understood. This…

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shoshani, T.; Bashan, N.; Seret, H.

1992-01-01

Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient populations carry the major CF mutation ({Delta}F508). Since different Jewish ethnic groups tended to live as closed isolates until recent times, high frequencies of specific mutations are expected among the remainder cystic fibrosis chromosomes of these ethnic groups. Genetic factors appear to influence the severity of the disease. It is therefore expected that different mutations will be associated with either severe or mild phenotype. Direct genomic sequencing of exons included in the two nucleotide-binding folds of the putative CFTR protein was performed on 119 Israeli cysticmore » fibrosis patients from 97 families. One sequence alteration which is expected to create a termination at residue 1282 (W1282X) was found in 63 chromosomes. Of 95 chromosomes, 57(60%) are of Ashkenazi origin. In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel. This nonsense mutation is associated with presentation of severe disease.« less

[Complementary medicine--Jewish medical ethics].

PubMed

Katz, Yisrae; Schiff, Elad

2011-08-01

In Israel, as in the Western world, the use of different methods of complementary and alternative medicine ICAM) is spreading. CAM raises ethical questions of concern to healthcare providers and to the public: Can physicians recommend a treatment that has no scientific evidence? Should the government include such therapies in the health budget? Can complementary therapists receive protection against lawsuits if their treatment is recognized? The purpose of this article is to present a Jewish perspective on these issues. The fundamental sources that deal with the subject are based on the approach of rabbinic authorities toward unproven medicine, as expressed in the "Mishnah" and "Talmud" (200-500 C.E). The great Jewish scholar who discusses the subject in detail is Maimonides (1135-1204), who defines what "medicine" is and claims that medicine has to rely on reason or experience. Contemporary Jewish commentators present their position based on the interpretation of Maimonides' texts. In this article we claim that treatments can be divided into four groups, each group having a different halachic status: (1) Treatment that might be dangerous--should not be used. (2) Treatment that is safe--can be used, but has no other special status. (3) Treatment recognized by alternative therapists--has consequences for the observant Jew, such as laws of Kashrut and Shabbat. (4) Treatment that was tested and proven using modern medical methods has public significance--the therapist is entitled to legal defense if he made a reasonable mistake; the government can consider funding such treatment using public money. This article presents the Jewish halachic sources upon which we propose an ethical-practical approach to CAM.

Assisted reproductive technology: perspectives in Halakha (Jewish religious law).

PubMed

Schenker, Joseph G

2008-01-01

The Jewish religion is characterized by a strict association between faith and practical precepts. In principle, Jewish law has two divisions, the Written and the Oral traditions. The foundation of the Written Law and the origin of authority is the Torah, the first five books of the Scripture. This paper presents the attitude of Jewish religion to assisted reproductive therapeutic procedures such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection and reproductive and therapeutic cloning.

Gender Differences in Mathematics among Jewish and Arab Youth in Israel.

ERIC Educational Resources Information Center

Mittelberg, David; Ari, Lilach Lev

1997-01-01

Discusses gender differences in mathematics among Jewish and Arab youth in Israel by presenting research done in four Jewish and two Israeli Arab coeducational schools. Examines the factors that have influenced the degree to which high school students in the Jewish and Arab sectors anticipate making use of mathematically based professions in the…

78 FR 26215 - Jewish American Heritage Month, 2013

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-03

... American Heritage Month, 2013 By the President of the United States of America A Proclamation In his second... American shores. We take this month to celebrate the progress that followed, and the bright future that... May 2013 as Jewish American Heritage Month. I call upon all Americans to visit www.JewishHeritageMonth...

Jewish Identities in Action: An Exploration of Models, Metaphors, and Methods

ERIC Educational Resources Information Center

Charme, Stuart; Horowitz, Bethamie; Hyman, Tali; Kress, Jeffrey S.

2008-01-01

"Jewish identity" has been a central concern both in the realm of research about American Jewry and to American Jewish educational programming, but what it means and how to best study it have come under question in recent years. In this article, four scholars describe the ways they understand Jewish identity among American Jews and how they study…

Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper.

PubMed

Herrera, D; Monaga, M; Campos, D; Pampín, Y; González, E C; Lavaut, K

2013-01-01

Gaucher disease (GD) is a lysosomal storage disorder characterized by a deficiency of the lysosomal acid β-D-glucosidase (GBA). The aim of this study was to develop an ultramicro-fluorometric assay based on the method of Chamoles et al. for determining GBA activity in dried blood spots on filter paper (DBS). The assay used 3-mm diameter blood spot and 8 mmol/l of 4-methylumbelliferyl-β-D-glucoside as enzymatic substrate. The reaction occurred in plates incubated at 37°C for 20 hours and the enzyme activity was expressed in μmol hydrolysed substrate/l blood/h. The fluorescence of the enzyme product was automatically measured in a fluorometer-photometer reader (SUMA Technology). The intra and inter-assay coefficients of variation were lower than 9 and 12%, respectively, and the recovery range was 97-109%.Three patients with GD were correctly diagnosed using the ultramicroassay. Healthy newborn DBS samples (n = 3003) from the National Neonatal Screening Program were analyzed, and the mean GBA activity was 5.7 μmol/l blood/h. Our assay showed high Pearson (n = 26; r = 0.99) and concordance correlations (ρc = 0.99) with the traditional method described by Chamoles et al. The analytical performance characteristics of our ultramicro-fluorometric assay suggest that it can be used in the diagnosis of GD in newborns and adults.

Extermination of the Jewish mentally-ill during the Nazi era--the "doubly cursed".

PubMed

Strous, Rael

2008-01-01

In Nazi Germany, physicians initiated a program of sterilization and euthanasia directed at the mentally-ill and physically disabled. Relatively little is known regarding the fate of the Jewish mentally-ill. Jewish mentally-ill were definitely included and targeted and were among the first who fell victim. They were systematically murdered following transfer as a specialized group, as well as killed in the general euthanasia program along with non-Jewish mentally ill. Their murder constituted an important link between euthanasia and the Final Solution. The targeting of the Jewish mentally-ill was comprised of four processes including public assistance withdrawal, hospital treatment limitations, sterilization and murder. Jewish "patients" became indiscriminate victims not only on the basis of psychiatric diagnosis, but also on the basis of race. The killing was efficiently coordinated with assembly in collection centers prior to being transferred to their deaths. The process included deceiving Jewish patients' family members and caregivers in order to extract financial support long after patients had been killed. Jewish patients were targeted since they were helpless and considered the embodiment of evil. Since nobody stood up for the Jews, the Nazis could treat the Jewish patients as they saw fit. Several differences existed between euthanasia of Jews and non-Jews, among which the Jewish mentally-ill were killed regardless of work ability, hospitalization length or illness severity. Furthermore, there was discrimination in the process leading up to killing (overcrowding, less food). For the Nazis, Jewish mentally-ill patients were unique among victims in that they embodied both "hazardous genes" and "racial toxins." For many years there has been silence relating to the fate of the Jewish mentally-ill. This deserves to be corrected.

The Groningen Protocol - the Jewish perspective.

PubMed

Gesundheit, Benjamin; Steinberg, Avraham; Blazer, Shraga; Jotkowitz, Alan

2009-01-01

Despite significant advances in neonatology, there will always be newborns with serious life-threatening conditions creating most difficult bioethical dilemmas. Active euthanasia for adult patients is one of the most controversial bioethical questions; for severely ill neonates, the issue is even more complex, due to their inability to take part in any decision concerning their future. The Groningen Protocol introduced in 2005 by P.J. Sauer proposes criteria allowing active euthanasia for severely ill, not necessarily terminal, newborns with incurable conditions and poor quality of life in order to spare them unbearable suffering. We discuss the ethical dilemma and ideological foundations of the protocol, the opinions of its defenders and critics, and the dangers involved. The Jewish perspective relating to the subject is presented based on classical Jewish sources, which we trust may enrich modern bioethical debates. In Jewish law, the fetus acquires full legal status only after birth. However, while the lives of terminally ill neonates must in no way be actively destroyed or shortened, there is no obligation to make extraordinary efforts to prolong their lives. Accurate preimplantation or prenatal diagnosis might significantly reduce the incidence of nonviable births, but active killing of infants violates the basic foundations of Jewish law, and opens the 'slippery slope' for uncontrolled abuse. Therefore, we call upon the international medical and bioethical community to reject the Groningen Protocol that permits euthanization and to develop ethical guidelines for the optimal care of severely compromised neonates. Copyright 2009 S. Karger AG, Basel.

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.

PubMed

Manchanda, Ranjit; Patel, Shreeya; Antoniou, Antonis C; Levy-Lahad, Ephrat; Turnbull, Clare; Evans, D Gareth; Hopper, John L; Macinnis, Robert J; Menon, Usha; Jacobs, Ian; Legood, Rosa

2017-11-01

Population-based BRCA1/BRCA2 testing has been found to be cost-effective compared with family history-based testing in Ashkenazi-Jewish women were >30 years old with 4 Ashkenazi-Jewish grandparents. However, individuals may have 1, 2, or 3 Ashkenazi-Jewish grandparents, and cost-effectiveness data are lacking at these lower BRCA prevalence estimates. We present an updated cost-effectiveness analysis of population BRCA1/BRCA2 testing for women with 1, 2, and 3 Ashkenazi-Jewish grandparents. Decision analysis model. Lifetime costs and effects of population and family history-based testing were compared with the use of a decision analysis model. 56% BRCA carriers are missed by family history criteria alone. Analyses were conducted for United Kingdom and United States populations. Model parameters were obtained from the Genetic Cancer Prediction through Population Screening trial and published literature. Model parameters and BRCA population prevalence for individuals with 3, 2, or 1 Ashkenazi-Jewish grandparent were adjusted for the relative frequency of BRCA mutations in the Ashkenazi-Jewish and general populations. Incremental cost-effectiveness ratios were calculated for all Ashkenazi-Jewish grandparent scenarios. Costs, along with outcomes, were discounted at 3.5%. The time horizon of the analysis is "life-time," and perspective is "payer." Probabilistic sensitivity analysis evaluated model uncertainty. Population testing for BRCA mutations is cost-saving in Ashkenazi-Jewish women with 2, 3, or 4 grandparents (22-33 days life-gained) in the United Kingdom and 1, 2, 3, or 4 grandparents (12-26 days life-gained) in the United States populations, respectively. It is also extremely cost-effective in women in the United Kingdom with just 1 Ashkenazi-Jewish grandparent with an incremental cost-effectiveness ratio of £863 per quality-adjusted life-years and 15 days life gained. Results show that population-testing remains cost-effective at the £20,000-30000 per quality

The Jewish child, adolescent, and family.

PubMed

Rube, David M; Kibel, Rabbi Nechemiah

2004-01-01

This brief review addresses the history, beliefs, and practices of Jewish families that have implications for clinical management of the problems and disorders of children and adolescents. It focuses primarily on the problems of the Orthodox family due, in part, to the limitations of space. There remains, however, little doubt that the clinician must be aware of the impact that Jewish heritage may have on the clinical issues at hand. This impact is significant whether the worldview of the family is characterized by strict Orthodoxy or is primarily that of an ethnic identification with less concern for belief and practice.

Hitler’s Jewish Physicians

PubMed Central

Weisz, George M.

2014-01-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler. PMID:25120923

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

PubMed Central

Risch, Neil; Tang, Hua; Katzenstein, Howard; Ekstein, Josef

2003-01-01

The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the driving force. We compare LSDs and nonlysosomal storage diseases (NLSDs) in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations. We also provide new data on the European geographic distribution, in the Ashkenazi population, of seven LSD and seven NLSD mutations. No differences in any of the distributions were observed between LSDs and NLSDs. Furthermore, no regular pattern of geographic distribution was observed for LSD versus NLSD mutations—with some being more common in central Europe and others being more common in eastern Europe, within each group. The most striking disparate pattern was the geographic distribution of the two primary Tay-Sachs disease mutations, with the first being more common in central Europe (and likely older) and the second being exclusive to eastern Europe (primarily Lithuania and Russia) (and likely much younger). The latter demonstrates a pattern similar to two other recently arisen Lithuanian mutations, those for torsion dystonia and familial hypercholesterolemia. These observations provide compelling support for random genetic drift (chance founder effects, one ∼11 centuries ago that affected all Ashkenazim and another ∼5 centuries ago that affected Lithuanians), rather than selection, as the primary determinant of disease mutations in the Ashkenazi population. PMID:12612865

Prevalance of Canavan disease heterozygotes in the New York Metropolitan Ashkenazi Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kronn, D.; Oddoux, C.; Phillips, J.

1995-11-01

Canavan disease is a severe neurodegenerative disease that occurs most commonly in the Ashkenazi Jewish population. Previous studies have indicated the carrier frequency to be between 1/59 and 1/45. The disease, now recognized as a deficiency of aspartoacylase, is associated with the pathological finding of spongy degeneration of the brain. Patients are usually normal at birth, but by 2-4 mo they lose milestones and develop seizures, macrocephaly, and hypertonia. Death occurs in early childhood. With the availability of enzymatic testing, an increase in the incidence of newly diagnosed cases has been observed, suggesting that the frequency of the disorder maymore » have been underestimated. In 1993, the cDNA for the aspartoacylase gene was cloned, and an A{yields}C transition at nucleotide 854 was identified in affected individuals. This represents a missense mutation from glutamine to alanine at amino acid residue 285 (E285A). This mutation was found in 73/88 Canavan disease-bearing chromosomes from Ashkenazi patients. In the same study, a C{yields}A transition at nucleotide 693, which results in the conversion from a tyrosine codon to terminator codon at position 231 (Y231X), was found in 13/88 chromosomes. Thus, these two mutations provide a detection rate >97% in this population. The aspartoacylase gene spans 23 kb of DNA and has been mapped to 17p13-ter by FISH. The gene consists of six coding exons. The E285A mutation is located in exon 6 and results in the creation of a new EagI site, whereas the Y231X mutation is found in exon S and creates an MseI site. In this study we have determined the frequency of these two mutations from a panel of unaffected individuals who live in the New York metropolitan area. 9 refs., 1 tab.« less

Practitioners and Practices in Museum Education: The Case of Three Jewish Museums

ERIC Educational Resources Information Center

Moghadam, Yaara Shteinhart

2011-01-01

As Jewish museums are witnessing a rapid numerical rise in the United States and beyond, the professional and academic literature on Jewish museum education lags behind. This dissertation is aimed to help narrow this gap by examining how the education departments of Jewish museums in the United States conceptualize, promote, and conduct programs…

Princeton Tries To Explain a Drop in Jewish Enrollment.

ERIC Educational Resources Information Center

Gose, Ben

1999-01-01

The proportion of Princeton University (New Jersey) freshmen who identify themselves as Jewish is half what it was in 1973, and the proportion of Jewish Princeton students overall is less than half that of Harvard University (Massachusetts) or Yale University (Connecticut). Some fault recruitment strategy changes; others believe fewer Jewish…

The vocal load of Reform Jewish cantors in the USA.

PubMed

Hapner, Edie; Gilman, Marina

2012-03-01

Jewish cantors comprise a subset of vocal professionals that is not well understood by vocal health professionals. This study aimed to document the vocal demands, vocal training, reported incidence of voice problems, and treatment-seeking behavior of Reform Jewish cantors. The study used a prospective observational design to anonymously query Reform Jewish cantors using a 35-item multiple-choice survey distributed online. Demographic information, medical history, vocal music training, cantorial duties, history of voice problems, and treatment-seeking behavior were addressed. Results indicated that many of the commonly associated risk factors for developing voice disorders were present in this population, including high vocal demands, reduced vocal downtime, allergies, and acid reflux. Greater than 65% of the respondents reported having had a voice problem that interfered with their ability to perform their duties at some time during their careers. Reform Jewish cantors are a population of occupational voice users who may be currently unidentified and underserved by vocal health professionals. The results of the survey suggest that Reform Jewish cantors are occupational voice users and are at high risk for developing voice disorders. Copyright © 2012 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

Embracing Jewish Day School Education in England, 1965-1979

ERIC Educational Resources Information Center

Mendelsson, David

2009-01-01

Between 1965 and 1979 the demand for places at Jewish day schools in England rose dramatically. In the preceding decades, most parents sent their children to state non-denominational schools, showing little interest in providing their children with a solid Jewish education. Sunday or after-school Hebrew classes, rarely extending beyond Bar/Bat…

The Gender Question and the Study of Jewish Children

ERIC Educational Resources Information Center

Charme, Stuart Z.

2006-01-01

Although some researchers argue that a generation of feminist innovations and changes in American Jewish life has produced an egalitarian generation in which gender differences among Jewish children and adolescents are insignificant, this article argues that the salience of gender differences is a factor of the kinds of questions that children are…

Performing Identities in the Classroom: Teaching Jewish Women's Studies

ERIC Educational Resources Information Center

Friedman, Kathie; Rosenberg, Karen

2007-01-01

Teaching about intersecting, fluid and historically contingent identities has been taken up extensively within the sociology of race, class and gender and women's studies. Oddly, the case of Jewish women has been virtually left out of this robust literature. This article explores the challenges raised through teaching the course "Jewish Women in…

Beyond Questioning: Inquiry Strategies and Cognitive and Affective Elements of Jewish Education

ERIC Educational Resources Information Center

Sigel, Irving E.; Kress, Jeffrey S.; Elias, Maurice J.

2007-01-01

Questioning-asking has not only long been seen as a central component of Jewish educational practice but has also been thought to be part of a broader culture of Judaism. In this article, we apply cognitive-developmental theories to advance the discussion of the use of questioning in Jewish education. Such theories allow Jewish educators to more…

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

PubMed Central

de la Mata, Mario; Cotán, David; Oropesa-Ávila, Manuel; Garrido-Maraver, Juan; Cordero, Mario D.; Villanueva Paz, Marina; Delgado Pavón, Ana; Alcocer-Gómez, Elizabet; de Lavera, Isabel; Ybot-González, Patricia; Paula Zaderenko, Ana; Ortiz Mellet, Carmen; Fernández, José M. García; Sánchez-Alcázar, José A.

2015-01-01

Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes lysosomal β-glucocerebrosidase. Homozygosity for the L444P mutation in GBA1 is associated with high risk of neurological manifestations which are not improved by enzyme replacement therapy. Alternatively, pharmacological chaperones (PCs) capable of restoring the correct folding and trafficking of the mutant enzyme represent promising alternative therapies.Here, we report on how the L444P mutation affects mitochondrial function in primary fibroblast derived from GD patients. Mitochondrial dysfunction was associated with reduced mitochondrial membrane potential, increased reactive oxygen species (ROS), mitophagy activation and impaired autophagic flux.Both abnormalities, mitochondrial dysfunction and deficient β-glucocerebrosidase activity, were partially restored by supplementation with coenzyme Q10 (CoQ) or a L-idonojirimycin derivative, N-[N’-(4-adamantan-1-ylcarboxamidobutyl)thiocarbamoyl]-1,6-anhydro-L-idonojirimycin (NAdBT-AIJ), and more markedly by the combination of both treatments. These data suggest that targeting both mitochondria function by CoQ and protein misfolding by PCs can be promising therapies in neurological forms of GD. PMID:26045184

Differences in pathological and clinical features of breast cancer in Arab as compared to Jewish women in Northern Israel.

PubMed

Zidan, Jamal; Sikorsky, Natalya; Basher, Walid; Sharabi, Adi; Friedman, Eitan; Steiner, Mariana

2012-08-15

Breast cancer (BC) does not affect ethnic groups equally. BC mortality is higher in Israeli Palestinian Arab women than among Israeli Jewish women. This study aims to compare clinical, biological and pathological characteristics of breast cancer in the two populations. Records of 1,140 women with BC treated at Northern Israel between 2002 and 2007 were reviewed: 872 Jews and 268 Arabs. Age at diagnosis, tumor stage, pathological differentiation, estrogen receptor (ER) and HER-2 expression were evaluated. The main age at diagnosis was 49.9 years for Arabs and 59.4 years for Jews (p < 0.0001). Mean tumor size was < 2 cm in 25% of Arabs and 53% of Jews (p < 0.0001). Lymph node metastases presented in 64.6% of Arabs and 37.2% of Jews (p < 0.0001). Stage I disease was 19% in Arab and 49.2% in Jewish women while Stages III and IV disease was 42% and 11.3% respectively (p < 0.001). ER was positive in 69% of Arabs and in 78.5% of Jews (p < 0.001). Poorly differentiated tumors were found in 28.8% of Arabs vs. 12.8% in Jews (p < 0.0001). Overexpression of HER-2 was present in 35.4% of Arab and 22% of Jewish women (p < 0.001). We found that race is an important predictive factor for breast cancer. Arab women are diagnosed at younger age, with more advanced stage and biologically more aggressive disease than in Jewish women. Socioeconomic factors alone are not sufficient to explain significant effects of race on tumor characteristics. Findings suggest a different genetic susceptibility in the two populations which needs further research. Copyright © 2011 UICC.

Jewish Medical Students and Graduates at the Universities of Padua and Leiden: 1617–1740*

PubMed Central

Collins, Kenneth

2013-01-01

The first Jewish medical graduates at the University of Padua qualified in the fifteenth century. Indeed, Padua was the only medical school in Europe for most of the medieval period where Jewish students could study freely. Though Jewish students came to Padua from many parts of Europe the main geographical sources of its Jewish students were the Venetian lands. However, the virtual Padua monopoly on Jewish medical education came to an end during the seventeenth century as the reputation of the Dutch medical school in Leiden grew. For aspiring medieval Jewish physicians Padua was, for around three hundred years, the first, simplest, and usually the only choice. PMID:23908853

How They Teach the Holocaust in Jewish Day Schools

ERIC Educational Resources Information Center

Ellison, Jeffrey Alan

2017-01-01

Though Holocaust education is of critical importance in the world of Jewish Day Schools, little research has been conducted about it. The purpose of this paper is to answer some critical questions about how they teach the Holocaust in Jewish Day Schools--the who, what, when, where, how, and why questions. Additionally, comparisons are made between…

"Shalom Sesame": Using Media to Promote Jewish Education and Identity

ERIC Educational Resources Information Center

Fisch, Shalom M.; Lemish, Dafna; Spezia, Elizabeth; Siegel, Deborah; Fisch, Susan R. D.; Aladé, Fashina; Kasdan, Daniel

2013-01-01

A family survey, ethnographic study, and quasi-experimental study investigated "Shalom Sesame's" potential to enhance understanding of Jewish culture and identity among preschool families. Preschoolers demonstrated significant learning, recognizing that people who looked different could be Jewish, and in knowledge about Hebrew words,…

March of the living, a holocaust educational tour: effect on adolescent Jewish identity.

PubMed

Nager, Alan L; Pham, Phung; Gold, Jeffrey I

2013-12-01

March of the Living (MOTL) is a worldwide two-week trip for high school seniors to learn about the Holocaust by traveling to sites of concentration/death camps and Jewish historical sites in Poland and Israel. The mission statement of MOTL International states that participants will be able to "bolster their Jewish identity by acquainting them with the rich Jewish heritage in pre-war Eastern Europe." However, this claim has never been studied quantitatively. Therefore, 152 adolescents who participated in MOTL voluntarily completed an initial background questionnaire, a Jewish Identity Survey and a Global Domains Survey pre-MOTL, end-Poland and end-Israel. Results suggest that Jewish identity did not substantially increase overall or from one time period to the next.

The emigration of Germany's Jewish dermatologists in the period of National Socialism.

PubMed

Eppinger, S; Meurer, M; Scholz, A

2003-09-01

In the context of our investigation, we found information on 432 (76%) of the 569 Jewish dermatologists in Germany. There is evidence that 57 (10%) of the Jewish dermatologists were murdered in concentration camps, 61 (10.7%) died a natural death, 13 (2%) committed suicide, and 25 (4%) survived the Third Reich in Germany. After 1933, 276 (49%) Jewish dermatologists were able to leave Germany; the United States of America was the main destination and 107 (or 41%) emigrated there. A total of 34 (13%) Jewish dermatologists emigrated from Germany to Palestine and 16 to Latin America. Regarding emigration to other European countries, 20 of the Jewish dermatologists from Germany went to Great Britain (including Walter Freudenthal, 1893-1952, and Ernst Sklarz, 1894-1975), and 24 emigrated to other European countries, such as France (Rudolf Mayer, 1895-1962), Sweden (Carl Lennhoff, 1883-1963), and the Netherlands (Otto Schlein, 1895-1944).

Reducing selection bias in case-control studies from rare disease registries.

PubMed

Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

2011-09-12

In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

The German-Jewish soldier: from participant to victim.

PubMed

Penslar, Derek

2011-01-01

The story of German-Jewish soldiers and veterans of World War I illustrates how, under circumstances of inclusion (even if incomplete) rather than vicious persecution, Jewish suffering in wartime, and with it the forms of collective memory and strategies for commemoration of the dead, could closely parallel, even intersect with, the suffering of Germans as a whole. To be sure, the points of intersection were accompanied by points of deflection. Even when Jews served, fought, suffered and died as German soldiers, their interpretations of the war experience, and their communities’ postwar memory and commemorative practices, differed from those of other Germans. In many ways, however, German-Jewish veterans suffered the aftermath of the war as did other Germans; they shared the prevailing fury over war guilt and reparations, and they retained a strong pride in their military service, a pride through which they interpreted the events of 1933–1945.

Freud's Jewish identity and psychoanalysis as a science.

PubMed

Richards, Arnold D

2014-12-01

Ludwik Fleck, the Polish philosopher of science, maintained that scientific discovery is influenced by social, political, historical, psychological, and personal factors. The determinants of Freud's Jewish identity are examined from this Fleckian perspective, as is the impact of that complex identity on his creation of psychoanalysis as a science. Three strands contributing to his Jewish identity are identified and explored: his commitment to the ideal of Bildung, the anti-Semitism of the times, and his "godlessness." Finally, the question is addressed of what it means that psychoanalysis was founded by a Jew. For Freud, psychoanalysis was a kind of liberation philosophy, an attempt to break free of his ethnic and religious inheritance. Yet it represented at the same time his ineradicable relationship with that inheritance. It encapsulated both the ambivalence of his Jewish identity and the creativity of his efforts to resolve it. © 2014 by the American Psychoanalytic Association.

New Frontiers: "Milieu" and the Sociology of American Jewish Education

ERIC Educational Resources Information Center

Horowitz, Bethamie

2008-01-01

Over the course of the twentieth century changing circumstances have prompted American Jewish educators to develop new educational strategies to address these needs, and these developments are an important aspect of the sociology of American Jewish education. Using the method of historical sociology, I examine the educational configuration at…

[Differences in clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in Jewish and Bedouin patients].

PubMed

Rabaev, Elena; Sagy, Iftach; Zaid, Eed Abu; Nevzorov, Roman; Harman-Boehm, Ilana; Zeller, Lior; Barski, Leonid

2014-01-01

The aim of this study was to compare clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in the Jewish and Bedouin populations. A retrospective analysis was conducted of hospital admissions for diabetic ketoacidosis in adult patients between 2003 and 2010. The clinical and biochemical characteristics and outcomes of diabetic ketoacidosis patients of Jewish origin were compared with those of Bedouin origin. The primary outcome was in-hospital all-cause mortality. The study cohort included 220 consecutive patients for whom the admission diagnosis was diabetic ketoacidosis. The cohort was categorized according to Jewish and Bedouin origin as follows: 177 (80.5%) Jewish and 43 (19.5%) Bedouin patients. The Jewish patients were significantly older than the Bedouin patients (45.8 +/- 18.9 vs. 32.9 +/- 15.3, p < 0.001). The majority of the patients with diabetic ketoacidosis in both the Jewish and Bedouin groups had type 1 diabetes mellitus. No differences were found for in-hospital mortality, 30 days mortality or complication rates in groups of Jewish and Bedouin patients. The Length of hospital stay was significantly Longer in the Jewish compared to the Bedouin groups of patients (median 4 days (IQR 2; 6 days) vs. median 3 days (IQR 2; 4 days) respectively, p = 0.05). We did not find significant differences in the outcomes between Bedouin and Jewish patients with diabetic ketoacidosis. The Bedouin patients in the present study were younger compared to Jewish patients and the Length of the hospital stay was shorter in the Bedouin compared to the Jewish group. Advanced age, mechanical ventilation and bed-ridden state were independent predictors of 30-day mortality in both ethnic groups.

A comparison of Israeli Jewish and Arab women's birth perceptions.

PubMed

Halperin, Ofra; Sarid, O; Cwikel, J

2014-07-01

birth is a normal physiological process, but can also be experienced as a traumatic event. Israeli Jewish and Arab women share Israeli residency, citizenship, and universal access to the Israeli medical system. However, language, religion, values, customs, symbols, and lifestyle differ between the groups. to examine Israeli Arab and Jewish women's perceptions of their birth experience, and to assess the extent to which childbirth details and perceptions predict satisfaction with the birth experience and the extent of assessing the childbirth as traumatic. this study was conducted in two post partum units of two major public hospitals in the northern part of Israel. The sample included 171 respondents, including 115 Jewish Israeli and 56 Arab Israeli women who gave birth to their first (33%) or second (67%) child. Respondents described their childbirth experiences using a self-report questionnaire 24-48 hours after childbirth. the Arab women were much less likely to attend childbirth preparation classes than the Jewish women (5% versus 24%). Forty-three per cent of the respondents reported feeling helpless, and 68% reported feeling lack of control during childbirth. Twenty per cent of the women rated their childbirth experience as traumatic, a rate much lower than the rate of medical indicators of traumatic birth (39%). The rate of self-reported traumatic birth was significantly higher among the Arab women than among the Jewish women (32% versus 14%). A higher percentage of the Arab women reported being afraid during labour (χ(2)=4.97, p<.05), expressed fear for their newborn's safety (χ(2)=12.44, p<.001), and reported that the level of medical intervention was excessive in their opinion, as compared to the Jewish women (χ(2)=5.09, p<.05; χ(2)=7.33, p<.01). However, both the Arab and Jewish women reported similar numbers of medical interventions and levels of satisfaction with their medical treatment. despite universal access to the Israeli health care system

[Identity and psychoanalysis: particularity and universality of the Jewish question according to Freud].

PubMed

Chemouni, J

1998-11-01

Although he was an atheist, Freud always affirmed his Jewish identity - without religious practice, but within a community commitment. He was proud of his Jewish origin and this helped him to face his hostile scientific environment and to develop his ideas despite the majority against him. What exactly is the role of his Jewish identity in his heritage?

Educational Implications of Michael Fishbane's "Sacred Attunement: A Jewish Theology"

ERIC Educational Resources Information Center

Marom, Daniel

2008-01-01

This article posits Michael Fishbane's Judaic scholarship as a prime resource for Jewish education. The link between the two fields can be made through a translation of the theological underpinnings of Fishbane's insights into Judaism to educational purposes and practices. Initial work with Jewish educators on establishing this link encouraged…

Teaching Approaches of Beginning Teachers for Jewish Studies in Israeli "Mamlachti" Schools: A Case Study of a Jewish Education Teachers' Training Program for Outstanding Students

ERIC Educational Resources Information Center

Katzin, Ori

2015-01-01

This article presents findings from a longitudinal qualitative study that examined teaching approaches of neophyte teachers in Israel during their 4-year exclusive teachers' training program for teaching Jewish subjects and first two years of teaching. The program wanted to promote change in secular pupils' attitudes toward Jewish subjects. We…

Teaching about Catholic-Jewish Relationships: Interpreting Jewish Hostility to Jesus in the Gospels

ERIC Educational Resources Information Center

Wansbrough, Henry

2016-01-01

A recent article in this journal, "Teaching about Catholic--Jewish relations: some guidelines to assist the work of teachers in Catholic schools," by Clare Jardine (Volume 7, no 1, 46-60), includes a page on "A new approach to New Testament studies." There the author points out that "The situations described in the Gospels…

Some letters on Jewish Medical Ethics.

PubMed

Jakobovits, I

1983-08-01

Specializing in Jewish Medical Ethics--a term, I believe, first used as the title of my doctor's thesis (1955) subsequently condensed and revised in book form (1959)--I frequently receive inquiries from individuals and organizations seeking guidance on the Jewish attitude to moral issues in medicine. After a review of my voluminous correspondence on many phases of this subject, I have made a small selection on a variety of topics. The correspondence on the last of the four topics, 'Medical Experimentation on Animals', is the longest, because it contains an element of polemics. Since this might make it of special interest to the Journal's readers, and since this subject is infrequently discussed in the literature of Medical Ethics, I decided to include it in this brief selection.

Kabbalah, Education, and Prayer: Jewish Learning in the Seventeenth Century

ERIC Educational Resources Information Center

Necker, Gerold

2018-01-01

In the seventeenth century, the Jewish mystical tradition which is known as Kabbalah was integrated into the curriculum of studying the Hebrew Bible and the Talmud. Kabbalah became popular in these times in the wake of the dissemination of Isaac Luria's teachings, in particular within the Jewish communities in Prague and Amsterdam, where members…

Exploring 350 Years of Jewish American History on the Internet

ERIC Educational Resources Information Center

Berson, Michael J.; Cruz, Barbara C.

2005-01-01

The recent Library of Congress exhibition, From Haven to Home: 350 Years of Jewish Life in America, has sparked renewed interest in the history of Jews in the United States. The collection featured more than 200 documents, images, and artifacts that chronicle the Jewish American experience. In exhibit from September through December 2004, From…

[Jewish medical practitioners in 14th and 15th century Munich].

PubMed

Jankrift, Kay Peter

2002-01-01

Contemporary sources reveal little information about the social conditions of Jewish medical practitioners in 14th and 15th century Munich. Due to the concurrence on the local "medical market" none of the five Jewish doctors named in the documents could practice for a longer period in teh late medieval city. Unlike their co-religionists in several cities of Westphalia, where physicians and surgeons were lacking, no Jewish medical practitioner was ever employed by the Magistrate of Munich. Thus, all of them seemed to have hoped for an employment at the court of the Bavarian Dukes. But with the exception of Jacob of Landshut, physician to the Bavarian Dukes Steven III. and Albrecht III. during the second half of the 14th century, whose medical career and social environment can roughly be retraced, no Jewish doctor seems to have been in service of the court for a longer time.

Religion, genetics, and sexual orientation: the Jewish tradition.

PubMed

Davis, Dena S

2008-06-01

This paper probes the implications of a genetic basis for sexual orientation for traditional branches of Judaism, which are struggling with how accepting to be of noncelibate gays and lesbians in their communities. The paper looks at the current attitudes toward homosexuality across the different branches of Judaism; social and cultural factors that work against acceptance; attitudes toward science in Jewish culture; and the likelihood that scientific evidence that sexual orientation is at least partly genetically determined will influence Jewish scholars' and leaders' thinking on this issue.

Problems and Prospects of Jewish Education for Intelligent Citizenship in a Post-Everything World

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2013-01-01

Judaism, Jewish life, the Jewish people--indeed, almost all facets of the Jewish experience--are in a postmodern, post-denominational, post-ethnic, post-Zionist, post-diaspora, or what may simply be called a "post-everything" age. Studies show that post-everything youth in general are less concerned with national/ethnic/religious identification…

Current Jewish perspectives on maternal identity.

PubMed

Wolowelsky, Joel B; Grazi, Richard V

2014-01-01

Infertility counseling is a specialized field that will continue to grow in coming years as the impact of infertility and its treatment is documented more in terms of emotional, physical, social and life consequences. We report here on more recent developments in halakha (Jewish law and ethics) that are of importance to Orthodox Jewish infertile couple considering donor gametes or surrogacy. Counselors should anticipate issues that may arise in the future and assist couples in their efforts to address them. Good medical practice values the importance of understanding the patient's individual concerns and values, including the complex psychological, sociological and cultural context in which they experience their infertility. Good counseling anticipates and addresses future problems about which patients might not currently be aware, and requires up-to-date authoritative information.

Talking ethics with strangers: a view from Jewish tradition.

PubMed

Newman, L E

1993-12-01

The work of H. Tristram Engelhardt provides an important set of reflections for bioethics in a secular context. Taking Engelhardt's work as its point of departure this article explores the challenges that Jewish ethicists face in contributing to bioethics in a secular context. The article explores how the Jewish tradition can address issues in bioethics in ways that are true to its tradition and at the same time accessible and relevant to "moral strangers" in a secular society.

Religiosity and Well-Being among Older Jewish Israelis: Findings from SHARE.

PubMed

Litwin, Howard; Schwartz, Ella; Avital, Dana

2017-01-01

This study examined the correlates of religiosity among Jewish Israelis aged 50 and older. Based on the second wave of Survey of Health, Ageing and Retirement in Europe, the findings show that almost half the Jewish respondents never pray and that, on average, prayer frequency is lower among Jewish Israelis than it is among most of their European counterparts. Multivariate logistic analyses revealed that those who pray more often have more health conditions, are less able to make ends meet financially and have fewer years of education. However, when facing ill health those who pray more often display a relatively lesser decline in their sense of well being.

Euthanasia: an overview and the jewish perspective.

PubMed

Gesundheit, Benjamin; Steinberg, Avraham; Glick, Shimon; Or, Reuven; Jotkovitz, Alan

2006-10-01

End-of-life care poses fundamental ethical problems to clinicians. Defining euthanasia is a difficult and complex task, which causes confusion in its practical clinical application. Over the course of history, abuse of the term has led to medical atrocities. Familiarity with the relevant bioethical issues and the development of practical guidelines might improve clinical performance. To define philosophical concepts, to present historical events, to discuss the relevant attitudes in modern bioethics and law that may be helpful in elaborating practical guidelines for clinicians regarding euthanasia and end-of-life care. Concepts found in the classic sources of Jewish tradition might shed additional light on the issue and help clinicians in their decision-making process. An historical overview defines the concepts of active versus passive euthanasia, physician-assisted suicide and related terms. Positions found in classical Jewish literature are presented and analyzed with their later interpretations. The relevance and application in modern clinical medicine of both the general and Jewish approaches are discussed. The overview of current bioethical concepts demonstrates the variety of approaches in western culture and legal systems. Philosophically and conceptually, there is a crucial distinction between active and passive euthanasia. The legitimacy of active euthanasia has been the subject of major controversy in recent times in various countries and religious traditions. The historical overview and the literature review demonstrate the need to provide clearer definitions of the concepts relating to euthanasia, for in the past the term has led to major confusion and uncontrolled abuse. Bioethical topics should, therefore, be included in medical training and continuing education. There are major debates and controversies regarding the current clinical and legal approaches. We trust that classical Jewish sources might contribute to the establishment of clinical

Ritual encounters of the queer kind: a political analysis of jewish lesbian ritual innovation.

PubMed

Brettschneider, Marla

2003-01-01

SUMMARY Jewish feminist and queer engagement in Jewish life and Judaism are transforming the practices and foundational orientations of traditional modes. Jewish feminist, queer ritual innovation in particular is inspired by an array of secular and radical critical theories as much as it is by the historic concrete experiences of a diversity of Jews in different Jewish communities. It is important to hold all of us who are involved in religious ritual innovation responsible to the knowledges we have developed and learned in critical theory or we risk, even with the best of intentions and creativity, re-inscribing some of the very problems of traditional ontological norms that we might have originally sought to disrupt and subvert. This article looks specifically at examples of new "coming out" rituals for Jewish queers explored over time in the Jewish Queer Think Tank: honoring them as well as offering tools from secular critical theory to assist our work in keeping them accountable to our aspirations to both love and fundamentally transform Jewishness. Here I redefine the function of religious ritual itself in political terms as an identity-producing performance. As such I utilize social constructionist queer theories (i.e., Shane Phelan and Judith Butler), anarchists (i.e., Emma Goldman), and those involved in radical theatre (i.e., Augusto Boal) to articulate the revolutionary potential of ritual innovation.

Teaching "Teacha!" An Exploration of Culturally Responsive Pedagogy in Jewish Education

ERIC Educational Resources Information Center

Hirsch, Miriam

2014-01-01

This case study examines the contours of culturally relevant pedagogy in an undergraduate preservice teacher education program for Jewish women. The case describes how the assigned reading of Albarelli's (2000) narrative of teaching in a Hasidic Jewish school, "Teacha! Stories from a Yeshiva", disrupts the classroom community,…

Seminary Education and Christian-Jewish Relations. A Curriculum and Resource Handbook.

ERIC Educational Resources Information Center

Fisher, Eugene J.

Intended for use in Roman Catholic seminaries to educate in their ecumenical and interfaith responsibilities those in training to become priests, this handbook discusses the manifold implications of Jewish-Christian relations. It is recommended that the topic of Jewish-Christian relations be integrated into the existing areas of seminary study.…

Jewish Day School Wounds and What We Can Do about Them

ERIC Educational Resources Information Center

Hirsch, Miriam

2017-01-01

This article is based upon a qualitative research study that examined 95 school stories written by Jewish female teacher candidates in an undergraduate education course. Many candidates wrote inspirational or humorous stories about growth and development or a special teacher. However, over one third of the narratives described painful Jewish day…

Robotics and artificial intelligence: Jewish ethical perspectives.

PubMed

Rappaport, Z H

2006-01-01

In 16th Century Prague, Rabbi Loew created a Golem, a humanoid made of clay, to protect his community. When the Golem became too dangerous to his surroundings, he was dismantled. This Jewish theme illustrates some of the guiding principles in its approach to the moral dilemmas inherent in future technologies, such as artificial intelligence and robotics. Man is viewed as having received the power to improve upon creation and develop technologies to achieve them, with the proviso that appropriate safeguards are taken. Ethically, not-harming is viewed as taking precedence over promoting good. Jewish ethical thinking approaches these novel technological possibilities with a cautious optimism that mankind will derive their benefits without coming to harm.

Eight Years Later: Education and Careers of Young Jewish Adults.

ERIC Educational Resources Information Center

Swerdloff, Sol; Rosen, Howard

Based on response to a mailed questionnaire, the 1969 followup study of the college and career plans of Jewish youth surveys a sample of 1,125 young Jewish adults in their mid-20s who took part in a 1961 study of the same nature in which 6,600 participated. The study found that most of the respondents believe that education will enable them to…

The fate of Hungarian Jewish dermatologists during the Holocaust Part 1: Six refugees who fled.

PubMed

Burgdorf, Walter H C; Bock, Julia; Hoenig, Leonard J; Parish, Lawrence Charles

2016-01-01

From the times of Moritz Kaposi, Hungarian Jewish physicians have significantly contributed to the development of dermatology. Part 1 of this special report highlights some of the early Jewish dermatologists in Hungary. It also tells the stories of five Hungarian Jewish dermatologists who fled anti-Semitism in Hungary, or other European countries, between 1920 and 1941: Frederick Reiss, Emery Kocsard, Stephen Rothman, Peter Flesch, and George Csonka. A sixth Hungarian dermatologist, Tibor Benedek, was persecuted by the Nazis, because he had a Jewish wife, forcing the couple to flee Germany. Part 2 will focus on the ordeal faced by Hungarian Jewish dermatologists who did not leave their homeland during World War II. Copyright © 2016 Elsevier Inc. All rights reserved.

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations.

PubMed

Ferragut, J F; Pereira, R; Castro, J A; Ramon, C; Nogueiro, I; Amorim, A; Picornell, A

2016-03-01

Population genetic data of 38 non-coding biallelic autosomal indels are reported for 466 individuals, representing six populations with Jewish ancestry (Ashkenazim, Mizrahim, Sephardim, North African, Chuetas and Bragança crypto-Jews). Intra-population diversity and forensic parameters values showed that this set of indels was highly informative for forensic applications in the Jewish populations studied. Genetic distance analysis demonstrated that this set of markers efficiently separates populations from different continents, but does not seem effective for molecular anthropology studies in Mediterranean region. Finally, it is important to highlight that although the genetic distances between Jewish populations were small, significant differences were observed for Chuetas and Bragança Jews, and therefore, specific databases must be used for these populations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Preparing Jewish Educators: The Research We Have, the Research We Need

ERIC Educational Resources Information Center

Feiman-Nemser, Sharon

2014-01-01

This article discusses the research we have and the research we need in both general and Jewish teacher education. First, I discuss three recent efforts to synthesize and assess existing research in teacher education and to identify needed research. Next I review a handful of recent studies in Jewish teacher education which illustrate various…

Moral Courage from the Perspective of Arab Teachers in Jewish Schools

ERIC Educational Resources Information Center

Baratz, Lea

2016-01-01

The current study aims to call attention to the phenomenon of female Muslim Arab teachers teaching in Israeli Jewish schools. The study examined the manner in which these female Muslim Arab teachers perceived their integration into the milieu of the Jewish schools, based on their descriptions of the various processes they experience when dealing…

Extremely elevated relative risk of paraffin lamp oil exposures in Orthodox Jewish children.

PubMed

Hoffman, Robert J; Morgenstern, Solomon; Hoffman, Robert S; Nelson, Lewis S

2004-04-01

In observance of the Sabbath and other religious holidays, many Orthodox Jews maintain a burning lamp that uses paraffin lamp oil as fuel. Unintentional pediatric exposure to paraffin lamp oil, a hydrocarbon, is typically by ingestion and carries a risk of aspiration with subsequent pneumonitis. This investigation was prompted by an apparent increase in paraffin lamp oil exposures during the Jewish Sabbath, from sunset Friday until sunset Saturday, noted by the staff of our regional poison control center. In this investigation, we retrospectively reviewed all exposures to paraffin lamp oil occurring in our large city in children <18 years old reported to our regional poison control center between January 1, 2000, and February 1, 2003. Reports were investigated to ascertain the frequency of occurrence of paraffin lamp oil exposures on the Jewish Sabbath and Jewish religious holidays. Caregivers of involved children were surveyed by telephone to determine the exposed child's religion and circumstances of exposure. During these 25 months, 45 cases met inclusion criteria, and all were ingestions. Orthodox Jews accounted for 32 cases (71%), 4 cases (9%) occurred in children who were not Orthodox Jews, and demographic data were unavailable in 9 cases (20%). Twenty-four cases (53%) occurred within 10 hours before or during the Jewish Sabbath or Jewish religious holidays. The relative risk of Orthodox Jewish children to ingest paraffin lamp oil, calculated by using census data, is 374 times that of other children. Public health authorities and caregivers of Orthodox Jewish children should be cognizant of this phenomenon. Educational efforts directed toward both Orthodox Jews and the general public aimed at preventing paraffin lamp oil exposures are warranted.

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood.

PubMed

Hammer, Michael F; Behar, Doron M; Karafet, Tatiana M; Mendez, Fernando L; Hallmark, Brian; Erez, Tamar; Zhivotovsky, Lev A; Rosset, Saharon; Skorecki, Karl

2009-11-01

It has been known for over a decade that a majority of men who self report as members of the Jewish priesthood (Cohanim) carry a characteristic Y chromosome haplotype termed the Cohen Modal Haplotype (CMH). The CMH has since been used to trace putative Jewish ancestral origins of various populations. However, the limited number of binary and STR Y chromosome markers used previously did not provide the phylogenetic resolution needed to infer the number of independent paternal lineages that are encompassed within the Cohanim or their coalescence times. Accordingly, we have genotyped 75 binary markers and 12 Y-STRs in a sample of 215 Cohanim from diverse Jewish communities, 1,575 Jewish men from across the range of the Jewish Diaspora, and 2,099 non-Jewish men from the Near East, Europe, Central Asia, and India. While Cohanim from diverse backgrounds carry a total of 21 Y chromosome haplogroups, 5 haplogroups account for 79.5% of Cohanim Y chromosomes. The most frequent Cohanim lineage (46.1%) is marked by the recently reported P58 T->C mutation, which is prevalent in the Near East. Based on genotypes at 12 Y-STRs, we identify an extended CMH on the J-P58* background that predominates in both Ashkenazi and non-Ashkenazi Cohanim and is remarkably absent in non-Jews. The estimated divergence time of this lineage based on 17 STRs is 3,190 +/- 1,090 years. Notably, the second most frequent Cohanim lineage (J-M410*, 14.4%) contains an extended modal haplotype that is also limited to Ashkenazi and non-Ashkenazi Cohanim and is estimated to be 4.2 +/- 1.3 ky old. These results support the hypothesis of a common origin of the CMH in the Near East well before the dispersion of the Jewish people into separate communities, and indicate that the majority of contemporary Jewish priests descend from a limited number of paternal lineages.

Attitudes toward Dating Violence among Jewish and Arab Youth in Israel

ERIC Educational Resources Information Center

Sherer, Moshe

2010-01-01

The objectives of this research were to assess the attitudes toward dating violence among Jewish and Arab male and female adolescents in Israel. The random sample consisted of 1,357 participants from among 9th to 12th grade pupils enrolled in eight Arab and eight Jewish junior and senior high schools. The study assessed attitudes toward…

Train up a Child: On the "Maskilic" Attempt to Change the Habitus of Jewish Children and Young Adults

ERIC Educational Resources Information Center

Shavit, Zohar

2016-01-01

Members of the Jewish Enlightenment movement and Jewish financial entrepreneurs undertook an active, conscious project to effect significant transformations in the Jewish habitus in German-speaking areas during the late 18th and early 19th centuries. A symbiotic relationship allowed these groups to disseminate a new vision of Jewish society…

Jewish holidays and their associated medical risks.

PubMed

Urkin, Jacob; Naimer, Sody

2015-02-01

Religiosity is inherent in human cultures. Being different in many aspects, all have rules regarding appropriate behavior and rituals. Celebrations of social events and of holidays prevail in all major religions. These include code of dress, prayers, special food and activities which may have negative health implications. The Jewish religion is 'blessed' with an abundance of holidays each with its unique health implications. In this paper we provide an outline of the character of these festivals and possible medical repercussions on those celebrating them. Observant members of the Jewish religion and teams treating this population should be knowledgeable of potentially associated risks. Pre-holiday periods should be specifically targeted for educational and preventive activity in order diminish injury or morbidity.

Practical Parenting: A Jewish Perspective.

ERIC Educational Resources Information Center

Lipsitz, Gail Josephson

Based on the clinical expertise of social workers at Jewish Family Services of Central Maryland, this book presents practical advice for parents of all faiths, with each of 34 chapters exploring a specific parenting issue. The book is divided into five sections: (1) "Many Kinds of Families," dealing with only children, sibling struggles,…

Factors Contributing to the Academic Excellence of American Jewish and Asian Students.

ERIC Educational Resources Information Center

Fejgin, Naomi

1995-01-01

Examines factors that contribute to the academic excellence of Jewish and Asian students. Finds that traditional socioeconomic measures explain some of the advantage of Jewish and Asian students over other ethnic groups but that parent and student attitudes toward education is also an important factor. (ACM)

Chronic health conditions in Jewish Holocaust survivors born during World War II.

PubMed

Keinan-Boker, Lital; Shasha-Lavsky, Hadas; Eilat-Zanani, Sofia; Edri-Shur, Adi; Shasha, Shaul M

2015-04-01

Findings of studies addressing outcomes of war-related famine in non-Jewish populations in Europe during the Second World War (WWII) confirmed an association between prenatal/early life exposure to hunger and adult obesity, diabetes, hypertension, cardiovascular disease and the metabolic syndrome. Fetal programming was suggested as the explanatory mechanism. To study the association between being born during WWII in Europe and physical long-term outcomes in child Holocaust survivors. We conducted a cross-sectional study on all Jewish Clalit Health Services (CHS) North District members born in 1940-1945 in Europe ('exposed', n = 653) or in Israel to Europe-born parents ('non-exposed', n = 433). Data on sociodemographic variables, medical diagnoses, medication procurement, laboratory tests and health services utilization were derived from the CHS computerized database and compared between the groups. The exposed were significantly more likely than the non-exposed to present with dyslipidemia (81% vs. 72%, respectively), hypertension (67% vs. 53%), diabetes mellitus (41% vs. 28%), vascular disease (18% vs. 9%) and the metabolic syndrome (17% vs. 9%). The exposed also made lower use of health services but used anti-depressive agents more often compared to the non-exposed. In multivariate analyses, being born during WWII remained an independent risk marker for hypertension (OR = 1.52), diabetes mellitus (OR = 1.60), vascular disease (OR = 1.99) and the metabolic syndrome (OR = 2.14). The results of this cross-sectional study based on highly validated data identify a high risk group for chronic morbidity. A question regarding potential trans-generational effects that may impact the 'second generation' is also raised.

Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.

PubMed

Zimran, Ari; Durán, Gloria; Mehta, Atul; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Amato, Dominick J; Petakov, Milan; Muñoz, Eduardo Terreros; Solorio-Meza, Sergio Eduardo; Cooper, Peter A; Varughese, Sheeba; Chertkoff, Raul; Brill-Almon, Einat

2016-07-01

Taliglucerase alfa is an intravenous enzyme replacement therapy approved for treatment of type 1 Gaucher disease (GD), and is the first available plant cell-expressed recombinant therapeutic protein. Herein, we report long-term safety and efficacy results of taliglucerase alfa in treatment-naïve adult patients with GD. Patients were randomized to receive taliglucerase alfa 30 or 60 U/kg every other week, and 23 patients completed 36 months of treatment. Taliglucerase alfa (30 U/kg; 60 U/kg, respectively) resulted in mean decreases in spleen volume (50.1%; 64.6%) and liver volume (25.6%; 24.4%) with mean increases in hemoglobin concentration (16.0%; 35.8%) and platelet count (45.7%; 114.0%), and mean decreases in chitotriosidase activity (71.5%; 82.2%). All treatment-related adverse events were mild to moderate in intensity and transient. The most common adverse events were nasopharyngitis, arthralgia, upper respiratory tract infection, headache, pain in extremity, and hypertension. These 36-month results of taliglucerase alfa in treatment-naïve adult patients with GD demonstrate continued improvement in disease parameters with no new safety concerns. These findings extend the taliglucerase alfa clinical safety and efficacy dataset. www.clinicaltrials.gov identifier NCT00705939. Am. J. Hematol. 91:656-660, 2016. © 2016 Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Hematology Published by Wiley Periodicals, Inc.

Framing Learner-Centered Jewish Education

ERIC Educational Resources Information Center

Solmsen, Bradley

2012-01-01

Woocher's vision for Reinventing Jewish Education for the 21st Century is clear, compelling, and convincing. The author agrees with Woocher's overarching analysis and deeply believes that profound change is necessary. At the same time, he wants to call for a note of caution related to Woocher's emphasis on the learner at the center. Within the…

Jewish physicians' beliefs and practices regarding religion/spirituality in the clinical encounter.

PubMed

Stern, Robert M; Rasinski, Kenneth A; Curlin, Farr A

2011-12-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices.

Obstructive Sleep Apnea: Comparison of Syndrome Severity and Risk Factors for Adult Jewish and Arab Males in Northern Israel.

PubMed

Carel, Rafael S; Brodsky, Inna; Pillar, Giora

2015-08-01

Background: Obstructive sleep apnea (OSA) is a common health problem with an estimated prevalence of 4% among men, many of whom are undiagnosed and untreated. To compare demographic characteristics, health profiles, risk factors, and disease severity in Arab and Jewish men with OSA syndrome. In this cross-sectional study we retrospectively analyzed clinical data from the medical files of men ≥ 22 years old who were referred to the Rambam Medical Center sleep clinic during the period 2001-2009 with a suspected diagnosis of OSA. OSA severity was measured using the apnea-hypopnea index (AHI). Categorical variables were compared using the chi-square test. Relations between OSA severity and a set of independent risk factors were assessed by linear regression analysis. A total of 207 men were included (39 Arabs, 19%; 168 Jews, 81%). Arab participants were younger than their Jewish counterparts (45.5 ± 8.9 years vs. 49.8 ± 11.8, P = 0.04) and their body mass index (BMI) was higher (3.1 ± 5.1 vs. 30.0 ± 4.4, P = 0.001). OSA severity (AHI score) was higher among Arab men, with low, medium and high severity scores seen in 10%, 33% and 56% of Arab men vs. 35%, 29% and 37% of Jewish men, respectively [T(198) = 2.39, P = 0.02]. Mean blood oxygen saturation was comparable. Arab men presenting for evaluation of sleep apnea harbored more severe OSA symptoms, were younger, and had higher BMI compared to Jewish men. Since OSA syndrome evolves for several years until it becomes severe, these findings suggest that Arab men seek medical assistance later than Jewish men with OSA.

Values in Tension: Israel Education at a U.S. Jewish Day School

ERIC Educational Resources Information Center

Zakai, Sivan

2011-01-01

The Naphtali Herz Imber Jewish Day School proudly proclaimed its commitment to Israel, yet many of its students experienced profound ambivalence toward the Jewish State. Why? The school was committed to a series of contradictory values which surfaced in its approach to Israel education. This article outlines three distinct yet interrelated…

A Content Analysis of the First National Conference on Adult Jewish Education.

ERIC Educational Resources Information Center

Feinstein, Sara

Based on a set of propositions for maintaining individual group culture, this study examined the outlook of adult Jewish education practitioners. A limited survey of adult Jewish education revealed certain needs and problems, and a national conference was convened to discuss the findings. Tape-recorded statements by speakers and workshop…

The mass campaign to eradicate ringworm among the Jewish community in Eastern Europe, 1921-1938.

PubMed

Shvarts, Shifra; Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-04-01

Between the years 1921 and 1938, 27,600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment--pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel.

Examining Social Perceptions between Arab and Jewish Children through Human Figure Drawings

ERIC Educational Resources Information Center

Yedidia, Tova; Lipschitz-Elchawi, Rachel

2012-01-01

This study examined social perceptions among 191 Arab and Jewish children who live in mixed neighborhoods in Israel. Human Figure Drawing assessment was used to examine the children's social perceptions. The drawings that the Jewish Israeli children created portrayed Arabs as the enemy, whereas the Arab Israeli children expressed a more positive…

The image of the insane in ancient Jewish lore.

PubMed

Kottek, S S

1992-01-01

This article considers the attitude towards the insane and insanity in ancient Jewish sources. In the Bible, the most famous case of a psychopathological personality is that of King Saul, who was plagued by 'an evil spirit'. Saul also raises the problematic connections between prophecy and frenzy. Madness and confusion of mind are mentioned among the biblical 'curses for disobedience'. In the Talmud, there is a detailed symptomatic evaluation of insanity, in the context of legal liability. It is well-known that some individuals are at times insane, otherwise sane and responsible, which is legally taken into careful consideration. The Jewish historian Josephus describes in his works several cases of psychiatric patients. The most impressive case is that of Jesus ben Ananias, a delirious maniac who announced the fall of Jerusalem while roaming about the streets of the city. It may be argued that no clear attitude of derision or ostracism towards insane patients can be found in ancient Jewish literature. 'The Lord preserves the fools' (Ps 116: 6).

Social Psychological Origins of Conspiracy Theories: The Case of the Jewish Conspiracy Theory in Malaysia

PubMed Central

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes. PMID:22888323

Social psychological origins of conspiracy theories: the case of the jewish conspiracy theory in malaysia.

PubMed

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes.

Lower lung cancer rates in Jewish smokers in Israel and the USA.

PubMed

Rennert, Gad; Kremer, Ran; Rennert, Hedy S; Wollner, Mira; Agbarya, Abed; Pinchev, Mila; Lejbkowicz, Flavio; Spitz, Margaret R; Muscat, Joshua E

2015-11-01

Lung cancer rates in Israeli Jews have remained stable over the last five decades and are much lower than in most developed countries despite high historical smoking rates. We compared lung cancer risk in Jews and non-Jews in Israel and in the United States. Data were derived from a population-based, case-control study in Israel (638 cases, 496 controls) to estimate lung cancer risk associated with smoking. Data were also acquired from a case-control study in the United States with information on religious affiliation (5,093 cases, 4,735 controls). Smoking was associated with lung cancer risk in all religion/gender groups in both studies. However, major differences in risk magnitude were noted between Jews and non-Jews; ever smoking was associated with a moderately elevated risk of lung cancer in Jewish men and women in Israel (OR = 4.61, 2.90-7.31 and OR = 2.10, 1.36-3.24, respectively), and in Jewish men and women in the United States (OR = 7.63, 5.34-10.90 and OR = 8.50, 5.94-12.17) but were significantly higher in Israeli non-Jewish men (OR = 12.96, 4.83-34.76) and US non-Jewish men and women (OR = 11.33, 9.09-14.12 and OR = 12.78, 10.45-15.63). A significant interaction between smoking and religion was evident in light, moderate and heavy male and female smokers. The differences in risk level between Israeli Jews and non-Jews could not be explained by lung cancer genetic risk variants which were identified in GWAS (genes in the CHRNA5, TERT and CLPTM1L regions). Data from the two studies support the notion of a reduced risk of lung cancer in Jewish compared to non-Jewish smokers in different areas of the world. © 2015 UICC.

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

PubMed

Alfonso, Pilar; Pampín, Sandra; García-Rodríguez, Beatriz; Tejedor, Teresa; Domínguez, Carmen; Rodríguez-Rey, Jose C; Giraldo, Pilar; Pocoví, Miguel

2011-01-30

Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase (GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as polymorphic variants, might influence GD phenotypes. We previously reported the c.(-203)A>G (g.1256A>G) variant in exon 1 of the GBA gene in Spanish GD patients. We analyzed the frequency and transcriptional activity of the promoter carrying the G-allele using restriction isotyping, electrophoretic mobility shift assay, cell culture, transfection, and luciferase assays. We found the variant is present at a similar frequency to the control group. In our patients, the G-allele was always found in combination with another mutation in the same allele, and patients carrying the c.(-203)A>G variant showed a more severe GD phenotype. The promoter containing the G-allele showed a 35% reduction in promoter activity when transfected into HepG2 cells. The c.(-203)A>G variant seems to be a polymorphism resulting in a decrease in activity of the GBA promoter. The change, per se, is not enough to elicit a GD phenotype, but it may produce a more severe phenotype in GD patients when combined with an already defective GBA protein. Copyright © 2010 Elsevier B.V. All rights reserved.

Satisfaction of Jewish and Arab teachers in Israel.

PubMed

Bogler, Ronit

2005-02-01

The author investigated the differences between Jewish Israeli and Arab Israeli teachers in their satisfaction with their work. Initially, the goal of the present study was to investigate whether there were demographic attributes (such as age, gender, and education) that differentiated between the two groups of teachers. Later, the author added two variables, teachers' perceptions of their occupation and teachers' perceptions of their principals' leadership styles, to the analysis to examine their contribution to the level of satisfaction for each group. Regression analyses revealed the significant power of the two added variables in predicting teacher satisfaction among both Jewish and Arab Israeli teachers. The author discussed implications of the findings in relation to principals' roles and teachers' perceptions.

Pedagogies of Interpretation, Argumentation, and Formation: From Understanding to Identity in Jewish Education

ERIC Educational Resources Information Center

Shulman, Lee S.

2008-01-01

The author summarizes current thinking about signature pedagogies in "learning to profess" and explores the extent to which these ideas apply to Jewish education. Three signature pedagogies for Jewish education are proposed: the d'var Torah, "chevruta", and pedagogies of argumentation ("machloket"). (Contains 1 figure.)

Jewish Physicians' Beliefs and Practices Regarding Religion/Spirituality in the Clinical Encounter

PubMed Central

Stern, Robert M.; Rasinski, Kenneth A.; Curlin, Farr A.

2013-01-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices. PMID:21706257

The Jewish heritage of Ludwig Wittgenstein: its influence on his life and work.

PubMed

Abramovitch, Henry; Prince, Raymond

2006-12-01

This article discusses two aspects of Wittgenstein's Jewish heritage. First, we try to show that Wittgenstein was acutely aware of his own Jewish heritage and especially concerned about its potential influence on his work. Second, we suggest that the form of his work, specifically, his method of inquiry and the peculiar literary character of his work, bear a striking resemblance to that of Hebrew Talmud. Like other assimilated Jews of Central Europe, Wittgenstein may have been directly or indirectly exposed to Hebraic culture and Talmudic logic. An understanding of Wittgenstein's Jewish heritage provides an important and neglected perspective on his work.

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PubMed Central

Ellis, N A; Ciocci, S; Proytcheva, M; Lennon, D; Groden, J; German, J

1998-01-01

Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador. These data, along with haplotype analyses, show that blmAsh was independently established through a founder effect in Ashkenazic Jews and in immigrants to formerly Spanish colonies. This striking observation underscores the complexity of Jewish history and demonstrates the importance of migration and genetic drift in the formation of human populations. PMID:9837821

Sex Therapy with Orthodox Jewish Couples.

ERIC Educational Resources Information Center

Ostrov, Stewart

1978-01-01

Conceptualized the interplay of religious, cultural, psychological, and interpersonal dynamics as they are related to the etiology and treatment of sexual dysfunctions within this group. Shows that the Jewish laws and values create an ambience whereby successful treatment of dysfunctions occurs through the resolution of key marital difficulties.…

Unkosher Sex: Vulnerable Narcissism and Ultra-Orthodox Jewish Men.

PubMed

Schapiro-Halberstam, Sara; Josephs, Lawrence

2018-05-08

Narcissistic men that engage in out-of-control extra-marital sex can be challenging to treat when their cultural background reinforces their misogyny and sense of entitlement, as it does among ultra-Orthodox Jewish men. A case study illustrates the challenges for a female clinician helping an unfaithful, married, narcissistic ultra-Orthodox Jewish male refrain from seeing prostitutes. He devalued the approach of his female therapist and the client had to learn that he was not entitled to women's love and respect, but that he needed to earn it by transcending his egocentrism and demonstrating empathy rather than contempt for women.

The Study of Poverty in the Jewish Community, City of New York.

ERIC Educational Resources Information Center

Rosenshein, Joel; Ribner, Sol

Poverty in New York City has been studied but never the specific problem of the Jewish minority groupings. The present study was geared towards presenting the incidences of poverty within the Jewish population in New York City and in presenting the beginning sociological picture of poverty among Jews. The study went through three phases. A first…

History of past sexual abuse in married observant Jewish women.

PubMed

Yehuda, Rachel; Friedman, Michelle; Rosenbaum, Talli Y; Labinsky, Ellen; Schmeidler, James

2007-11-01

The authors examined instances of past sexual abuse and related demographic characteristics in the self-reports of a select group of married observant Jewish women. Orthodox Jewish married women (N=380) ages 19 to 58 responded to advertisements asking them to complete an anonymous questionnaire about sexual experiences, including sexual abuse. Sexual abuse was reported by 26% of the respondents surveyed, with 16% reporting abuse occurring by the age of 13. More ultra-Orthodox Jews reported abuse than modern-Orthodox Jews. Women who were raised observant reported significantly less childhood sexual abuse than those who became observant later in life. Sexual abuse was associated with increased treatment-seeking for depression, marital counseling, or other emotional or psychological problems. While observant Jewish women live in a culture defined by a high degree of adherence to specific laws of conduct, including rules designed to regulate sexual contact, sexual abuse of various types still exists among them.

Synthetic biology: a Jewish view.

PubMed

Glick, Shimon

2012-01-01

The discipline of synthetic biology may be one of the most dramatic advances of the past few decades. It represents a radical upgrading of humankind's ability to manipulate the world in which we live. The potential for benefits to society is enormous, but the risks for deliberate abuse or dangerous miscalculations are no less great. There are serious ethical issues, legitimate concerns for biosafety, and fears of bioterrorism. The ethical dilemmas posed are new and challenging and are being addressed by various groups and commissions. The present paper presents a Jewish approach to some of the ethical issues posed by this new technology. Judaism traditionally looks favorably on man as a co-creator with God and encourages research for the benefit of humankind. Thus it would have a positive attitude towards the current goals of synthetic biology. But in the Jewish tradition man is also charged with stewardship over nature and is admonished to preserve and nurture, not just to exploit and destroy. In line with the Presidential Commission on Bioethics, it would support a carefully weighed balance between the precautionary and the "proactionary" approaches.

Six Values Never to Silence: Jewish Perspectives on Nazi Medical Professionalism

PubMed Central

Kolman, Jacob M.; Miller, Susan M.

2018-01-01

An ideological case study based on medical profession norms during the Third Reich will be used to exemplify the importance of diversity in the manifestations of professional ethics. The German professional medical community banned their Jewish colleagues from treating German citizens. This included legally mandated employment discrimination and outright censure which led to a professional ethic devoid of diverse voices. While the escalation to the T-4 program and medicalized genocide was influenced by many causes, the intentional, ethnocentric-based exclusion of voices was an important contributing element to the chronicled degradation of societal mores. For illustration, six core Jewish values—life, peace, justice, mercy, scholarship, and sincerity of intention—will be detailed for their potential to inspire health-care professionals to defend and protect minorities and for readers to think critically about the role of medical professionalism in Third Reich society. The Jewish teachings highlight the inherent professional obligations physicians have toward their patients in contrast to the Third Reich’s corruption of patient-centered professionalism. More fundamentally, juxtaposing Jewish and Nazi teachings exposes the loss of perspective when a profession’s identity spurns diversity. To ensure respect for persons in all vulnerable minorities, the first step is addressing professional inclusion of minority voices. PMID:29406846

The Mass Campaign to Eradicate Ringworm Among the Jewish Community in Eastern Europe, 1921–1938

PubMed Central

Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-01-01

Between the years 1921 and 1938, 27 600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment—pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel. PMID:23409897

London's Jewish Communities and State Education

ERIC Educational Resources Information Center

Martin, Jane

2012-01-01

The Inner London education authority was a notable example of a radical and powerful local government body from which the fight for the comprehensive principle in English secondary education emerged. Building on previous work of women's contribution to state education in London, this articles focuses on Anglo-Jewish educator activists who helped…

Nurturing a Society of Learners: Suggestions from Traditional Jewish Pedagogy for Medical Education.

PubMed

Urkin, Jacob; Fram, Edward; Jotkowitz, Allen; Naimer, Sody

2017-07-01

Historically speaking, in many societies a select few carried the burden of preserving and transferring knowledge. While modern society has broadened the scope of education, this is not enough in the medical sciences. We must ensure that all those who pursue a career in medicine become life-long learners who will grow and contribute well beyond their years in medical school. In considering how to attain this goal, we were intrigued by the similarities between generations-old wisdom of teaching and learning methods in Jewish culture and modern educational principles. Both aim to nurture a culture of learners. Our objective was to parallel the methodologies, pedagogic directives, and demands made of students in the Jewish tradition, to the principles used in medical education today. We surveyed the traditional Jewish culture of teaching and learning. We compared it to modern medical teaching methods and looked to see what lessons might be gleaned. In the traditional Jewish community, life is focused on education, and producing "learners" is the ideal. This culture of learning was developed over the generations and many educational methods are similar to modern ones. Some of the pedagogic principles developed successfully in Jewish society should be considered for adaptation in medical education. Further comparative research could help to expand the ways in which we teach medicine.

Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.

PubMed

Zimran, Ari; Gonzalez-Rodriguez, Derlis Emilio; Abrahamov, Aya; Cooper, Peter A; Varughese, Sheeba; Giraldo, Pilar; Petakov, Milan; Tan, Ee Shien; Chertkoff, Raul

2018-02-01

Taliglucerase alfa is an enzyme replacement therapy approved for treatment of Gaucher disease (GD) in children and adults in several countries. This multicenter extension study assessed the efficacy and safety of taliglucerase alfa in pediatric patients with GD who were treatment-naïve (n=10) or switched from imiglucerase (n=5). Patients received taliglucerase alfa 30 or 60U/kg (treatment-naïve) or the same dose as previously treated with imiglucerase every other week. In treatment-naïve patients, taliglucerase alfa 30 and 60U/kg, respectively, reduced mean spleen volume (-18.6 multiples of normal [MN] and -26.0MN), liver volume (-0.8MN and -0.9MN), and chitotriosidase activity (-72.7% and -84.4%), and increased mean Hb concentration (+2.0g/dL and +2.3g/dL) and mean platelet count (+38,200/mm 3 and +138,250/mm 3 ) from baseline through 36 total months of treatment. In patients previously treated with imiglucerase, these disease parameters remained stable through 33 total months of treatment with taliglucerase alfa. Most adverse events were mild/moderate; treatment was well tolerated. These findings extend the taliglucerase alfa safety and efficacy profile and demonstrate long-term clinical improvement in treatment-naïve children receiving taliglucerase alfa and maintenance of disease stability in children switched to taliglucerase alfa. Treatment was well-tolerated, with no new safety signals. This study is registered at www.clinicaltrials.gov as NCT01411228. Copyright © 2016 Shire Human Genetic Therapies, Inc. Published by Elsevier Inc. All rights reserved.

Professor Dr Med Oskar Fehr: the fate of an outstanding German-Jewish ophthalmologist: an early contributor to cornea and external disease.

PubMed

Lisch, Walter; Mannis, Mark J

2014-08-01

The aim of this study was to recount the immense and abrupt change in the private and professional life of a prominent German-Jewish ophthalmologist in the transition from democracy to dictatorship in Germany during the first half of the 20th century. This involves a Retrospective analysis of Fehr's clinical and scientific work as the first assistant of Julius Hirschberg's world-famous eye clinic in Berlin; evaluation of Fehr's successful tenure as a chair of Virchow's Eye Hospital; the catastrophic influence of Hitler's seizure of power on the private and professional lives of German-Jewish physicians; and an analysis of Fehr's personal and professional will to continue the practice of medicine in England. Oskar Fehr published >50 articles and was the first to describe the endemic swimming pool conjunctivitis. He was the first to specifically distinguish granular, lattice, and macular corneal dystrophies. Professor Oskar Fehr was the chair of one of the most important eye clinics in Germany for nearly 30 years. The "Anti-Jewish Medical Laws" with their terrible consequences on private and professional lives led to Fehr's emigration from his homeland to England in 1939. He obtained a British medical doctor degree after 4 years of study, and at an advanced age, he demonstrated his determination to practice ophthalmology successfully in London. Oskar Fehr died in London on August 1, 1959.

Introducing a Brief Measure of Cultural and Religious Identification in American Jewish Identity

ERIC Educational Resources Information Center

Friedlander, Myrna L.; Friedman, Michelle L.; Miller, Matthew J.; Ellis, Michael V.; Friedlander, Lee K.; Mikhaylov, Vadim G.

2010-01-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed…

Case Studies of North American Jewish Educators: Attitudes Regarding Israel and Israel Engagement

ERIC Educational Resources Information Center

Bell-Kligler, Roberta

2013-01-01

The role of Israel in the identity of North American Jews is of concern and interest to community leaders, philosophers of Jewish education, and most important, practitioners in the field. Although there is an awareness of the need to help emerging Jewish educators grapple with the complex questions surrounding Israel engagement, little research…

Interpreting Freud: the Yiddish philosophical journal Davke investigates a Jewish icon.

PubMed

Berger, Shlomo

2007-06-01

The Argentine-based Yiddish philosophical journal Davke functioned as a mediator between general European philosophy and Jewish philosophy. Its editor Shlomo Suskovich wished to introduce readers of Yiddish to the western tradition of philosophy and, at the same time, to show how Jewish thought contributed to abstract thinking. Through topical issues dedicated to central ideas or to giants among Jewish philosophers, particular knowledge could be successfully transmitted to the reading public. Sigmund Freud was honored with such a topical issue. In it the editor wished to show this Jew's contribution to basic philosophical contemplation rather than limit the discussion to his contributions in the field of psychology. In the central article of the issue on Freud, the editor emphasizes that all the articles in the issue, including those which deal with psychoanalysis, focus on Freud's importance to the world of ideas rather than just the world of medicine.

Blood in ancient Jewish culture.

PubMed

Kottek, Samuel S

2005-01-01

The article analyzes the Jewish attitude towards blood, conceived both as the vehicle of life, and as a polluting product of feminine bodies. The author analyzes numerous Biblical sources concerning the 'unapproachable' blood of menstruation, the role of blood in the generation of the fetus, the blood as source of illness, the practice of bloodletting, and finally the idea that male menstruation exists as a peculiarity of the Jews.

[Medicine, physicians and medical ethics in Jewish tradition through the ages].

PubMed

Gesundheit, Benjamin; Zlotnick, Eitan; Steinberg, Avraham

2014-08-01

Medicine has always had a place of honor in the Jewish heritage. Since Biblical times, the sources of Judaism have valued the physician's activities and seen them as a partnership with God's deeds. Later, in the times of the Mishna and the Talmud, a model of scholars evolved who were not only learned sages but also had extensive medical and scientific knowledge. Their dealings with various issues in medical ethics were the basis for deliberation on questions that appeared throughout history on the advancement of medical science. The various sources from this period show the sages' sensitivity regarding the subject of human life, saving lives and the importance of the availability of medicine for all segments of the population. During the years following the completion of the Talmud, the medical profession was common among the Jews and they excelled in this field. Jewish doctors left behind a Legacy of values in medicine. Hebrew was considered a significant Language in the medical field and was cited in various medical texts such as in the book written by Vesalius, the "father" of modern anatomy. The rapid progress of medicine poses new challenges in bioethics. There is a need for physicians with extensive medical knowledge along with an understanding of ethical issues in order to offer solutions to new situations. Knowledge of the Jewish literature throughout the ages on a variety of subjects and the essential values which are their foundation can contribute to the modern discussion on biomedical questions. This is even more important in Israeli society where many of the laws are formed based on Jewish values. Engagement with Jewish medical ethics can help in educating physicians to have the ability to contribute to public debate and legislation in a way that would balance between the values and needs which an ethical issue raises.

Differences in quality of life between Jewish and Arab patients on hemodialysis.

PubMed

Romano-Zelekha, Orly; Golan, Eliezer; Ifrah, Anneke; Weinstein, Talia; Shohat, Tamy

2017-12-01

Higher health-related quality of life (HRQOL) in dialysis patients has been associated with fewer hospitalizations and lower mortality. Since Arab patients on dialysis have better survival rates than Jewish patients, we hypothesized that they would have higher HRQOL. We also studied the impact of several risk factors on HRQOL in each population. Based on a national dialysis registry, patients from 64 hemodialysis units were recruited to participate. Patients who consented were interviewed face-to-face, using the Kidney Disease Quality of Life Short Form (KDQOL-SF36) questionnaire. Five hundred and fifty-eight (50.6%) Jewish and 544 (49.4%) Arab patients participated in the study. For Arab patients mean crude scores for the "mental component summary" and KDQOL scores were significantly lower than for Jewish patients [31.6 (95% Cl 30.0-33.3) vs. 38.0 (95% Cl 36.1-39.9), p < 0.0001 and 55.6 (95% Cl 54.5-56.7) vs. 59.8 (95% Cl 58.6-60.9), p < 0.0001, respectively]. Much lower scores were observed for Arabs in the "emotional role" and "work status" subscales. The two populations had similar general health assessments and albumin level. For both, HRQOL was positively associated with higher educational level, higher albumin level, and dialysis connection by fistula or graft; and negatively associated with low income and diabetes. HRQOL was negatively associated with previous cerebrovascular accident among Arabs and with female gender among Jews. Differences between Jews and Arabs in subscales related to psychosocial factors suggest that cultural differences in the perceptions of sickness and health may be relevant here. Future studies should explore such possibility and focus on the large gap in the "work status" subscale.

Return of the Pink Rabbit? A Visit to a Jewish School in Berlin.

ERIC Educational Resources Information Center

Rodden, John

1996-01-01

Describes a day in the life of teachers and students at a Jewish elementary school in Berlin, Germany. On this 1994 mid-October morning, the school is under tight security, since skinheads began defacing Jewish graves, neo-Nazis started chanting in the streets, and Palestinian radicals began attacking German Jews. Education toward faith is the…

Student and Teacher Responses to Prayer at a Modern Orthodox Jewish High School

ERIC Educational Resources Information Center

Lehmann, Devra

2010-01-01

This article presents the attitudes of students and teachers to prayer at an American Modern Orthodox Jewish high school. Relevant data, based on observation and interviews, emerged from a larger study of the school's Jewish and secular worlds. A significant gap in responses became apparent. Students viewed prayer as a challenge to their autonomy,…

Ready to Lead? A Look into Jewish Religious School Principal Leadership and Management Training

ERIC Educational Resources Information Center

Vaisben, Eran

2018-01-01

Although most Jewish supplementary religious school principals have graduated from various academic training programs, there are no data about how these programs sufficiently prepare educational leaders. This study examined the essential leadership and management skills of effective Jewish religious school leaders, and assessed their preparation…

Belonging and ‘Unbelonging’: Jewish refugee and survivor women in 1950s Britain

PubMed Central

Davis, Angela

2017-01-01

ABSTRACT This article analyses the life stories of female Jewish refugees and survivors in 1950s Britain in order to explore their relationship with the existing Jewish community and wider society. The paper is based on an analysis of twenty-one oral history testimonies from the Jewish survivors of the Holocaust collection held at the British library. Around 50,000 Jewish refugees from Central Europe came to Britain in the 1930s after fleeing from Hitler. In addition, a relatively small number of camp survivors and former hidden children settled in the country after the war; the Board of Deputies of British Jews Demographic Unit estimates the figure at 2000. This article considers how these refugee and survivor women tried to find a place for themselves within 1950s Britain. Looking at their experiences of arrival, work and home, it reflects upon the discrimination and hostility they faced, and they ways they tried to deal with this. Finally it discusses what this meant for their sense of belonging or ‘unbelonging’. PMID:28190937

[The living conditions of Jewish physicians in Frankfort on Main in the late Middle Ages and Early Modern Times].

PubMed

Treue, W

1998-01-01

During almost the entire period covered in this article (ca. 1345-1745), the living conditions of Jewish physicians in the Free Imperial City of Frankfort on Main depended to a large extent on the attitudes of the Town Council. The Council, with its increasingly absolutist conception of government, supervised Jewish doctors very closely; on the other hand, it also protected them against the recurrent attacks of Christian physicians, pharmacists and clergymen. The Council understood the importance of the Jewish community to the city's economy, and the contribution of Jewish physicians to the welfare of the city and the neighboring principalities. Until the late 15th century, Jewish medical students were not admitted to European universities; the unique exception was Padua. Hence, arguments against Jewish physicians revolved around their lack of academic qualifications. Such claims were weakened at the end of the 16th century, when the first Jewish graduates from Padua University arrived in Frankfort. The opening of Western European universities in the 17th and 18th centuries enabled increasing numbers of Jews to obtain academic training. The medical profession had become a tradition in many Jewish families, beginning in the Middle Ages; and this tradition was now reinforced and complemented by academic credentials.

[The Jewish Hospital in Budapest under the Nazi occupation (1944-1945)].

PubMed

Weisskopf, Varda

2008-01-01

On March 19, 1944 the German army invaded and occupied Hungary. The Waffen-SS soldiers captured the buildings of the Jewish community in Budapest, including the famous and important Jewish hospital on Szabolcs Street, founded in 1802. The Jewish hospital moved into a school belonging to the Jewish community on 44 Wesselényi Street. The hospital personnel managed to smuggle out medical equipment, and operating rooms were transferred into this central, temporary medical location. Other hospitals were founded, some inside the ghetto, others outside. The Judenrat supplied these hospitals with medical equipment obtained through contributions from Jews. The temporary hospitals admitted sick patients and a great number of those injured as a result of the war in Budapest. These hospitals operated with poor equipment. Surgeries were sometimes performed on kitchen tables, and medical equipment was sterilized by burning the synagogue's benches and library books. As of December 1944, there was no electricity in the hospitals. Thus doctors were forced to operate by the light of candles and flashlights. Nevertheless, they managed to save numerous lives. In spite of the terrible conditions under which the medical staff worked, they were committed to their mission, and their courage deserves appreciation. Ghetto Budapest was liberated by the Red army on 18th January, 1945. Thousands of Jews were released from the temporary hospitals.

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

PubMed

Parvari, R; Shen, J; Hershkovitz, E; Chen, Y T; Moses, S W

1998-04-01

Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of an adenine into a stretch of 8 adenines towards the 3' end of the coding region, one at position 3904 (3904insA) in exon 30, the second at position 4214 (4214insA) in exon 32. The mutations cause frameshifts and premature terminations of the glycogen debranching enzyme, the first causing a frameshift at amino acid 1304, the second causing a frameshift at amino acid 1408 of the total of 1532. These mutations demonstrate the importance of the 125 amino acids at the carboxy-terminus of the debrancher enzyme for its activity and support the suggestion that the putative glycogen binding domain is located in the carboxy-terminus of the AGL. The mutations cause distinctive single-strand conformation polymorphism (SSCP) patterns enabling easy detection.

Self-Concept in Young Adults with a Learning Disability from the Jewish Community

ERIC Educational Resources Information Center

Bunning, Karen; Steel, Gabriela

2007-01-01

A small pilot study was conducted to explore the self-concept of young people with a learning disability from a Jewish community in an inner city area. Four young people participated in the project. All attended a college dedicated to the further education of people with special needs from the Jewish community. Semi-structured interviews were…

Introduction to the Hebrew Edition of "Visions of Jewish Education--Medabrim Chazon" (Talking Vision)

ERIC Educational Resources Information Center

Katzman, Avi; Marom, Daniel

2007-01-01

The following is a translation of the introduction to "Medabrim Chazon" (Jerusalem: Keter, 2006), the Hebrew translation of "Visions of Jewish Education," edited by Seymour Fox, Israel Scheffler, and Daniel Marom (Cambridge, 2003). "Visions of Jewish Education" is an effort by leading scholars to improve the quality…

The fate of Hungarian Jewish dermatologists during the Holocaust: Part 2: Under Nazi rule.

PubMed

Bock, Julia; Burgdorf, Walter H C; Hoenig, Leonard J; Parish, Lawrence Charles

At least 564,500 Hungarian Jews perished during the Holocaust, including many physicians. Exactly how many Jewish dermatologists were killed is not known. We have identified 62 Hungarian Jewish dermatologists from this period: 19 of these dermatologists died in concentration camps or were shot in Hungary, 3 committed suicide, and 1 died shortly after the Holocaust, exhausted by the War. Fortunately, many Hungarian Jewish dermatologists survived the Holocaust. Some had fled Europe before the Nazi takeover, as was described in Part 1 of this contribution. Two Holocaust survivors, Ferenc Földvári and Ödön Rajka, became presidents of the Hungarian Dermatologic Society and helped rebuild the profession of dermatology in Hungary after the War. This contribution provides one of the first accounts of the fate of Hungarian Jewish dermatologists during the Holocaust and serves as a remembrance of their suffering and ordeal. Copyright © 2016. Published by Elsevier Inc.

Achievement of Jewish and Arab Students Who Studied Inquiry Oriented Curriculum for Several Years.

ERIC Educational Resources Information Center

Tamir, Pinchas

The study compares the achievement of Jewish and Arab students in the high school biology matriculation examinations in Israel with special reference to differences between boys and girls. While Jewish and Arab students follow the same syllabus and take identical matriculation examinations, significant differences exist in learning and achievement…

Nonaltruistic kidney donations in contemporary Jewish law and ethics.

PubMed

Grazi, Richard V; Wolowelsky, Joel B

2003-01-27

In 2000, the Consensus Statement on the Live Organ Donor reported that "direct financial compensation for an organ from a living donor remains controversial and illegal in the United States" and took note of the position of the Transplantation Society that "Organs and tissue should be given without commercial consideration or commercial profit." Christian authorities insist that organ donors must not accrue economic advantage, and "selling" organs deprives the donation of its ethical quality. The writings of major contemporary authorities of Jewish law and ethics whose halakhic positions on bioethical issues are regularly considered by Orthodox, Conservative, and Reform ethicists were reviewed. Their positions on this issue were contrasted with those of various contemporary secular and religious authorities. These Jewish authorities reject the notion that generosity and charity, rather than monetary gain and greed, must serve as the exclusive basis for donation of functioning organs. Although nonaltruistic sale of kidneys may be theoretically ethical, ultimately its ethical status in Jewish ethics and law is inextricably connected to solving a series of pragmatic programs, such as creating a system that ensures that potential vendors and donors are properly informed and not exploited. Lacking such arrangements, ethical nonaltruistic kidney donations remain but a theoretical possibility.

Attitudes to HPV vaccination among mothers in the British Jewish community: reasons for accepting or declining the vaccine.

PubMed

Gordon, Daniel; Waller, Jo; Marlow, Laura A V

2011-10-06

This study aimed to explore attitudes to human papillomavirus (HPV) vaccination and reasons for accepting or declining the vaccine in the British Jewish community. A qualitative approach was used to explore maternal attitudes towards HPV vaccination. Participants were mothers of girls who had been offered HPV vaccination and were purposively sampled through Jewish secondary schools. Face-to-face interviews were conducted with vaccine-accepting (n=10) and vaccine-declining (n=10) mothers. Interviews were transcribed verbatim and analysed using a framework approach. HPV and cervical cancer knowledge varied, with poor knowledge attributed to lack of contact with the disease. Although mothers thought HPV vaccination was a good idea in general, many did not perceive it as necessary for their daughter, citing Jewish religious laws governing family purity and abstinence until marriage as reasons for daughter's low susceptibility. These beliefs combined with concerns about the novelty of the vaccination were the main reasons given for declining the vaccine. Mothers who accepted the vaccine generally did so to protect their daughters health and because they felt unable to predict their daughters future behaviour and HPV susceptibility. Many mothers expressed a wish to wait until their daughter was older and the vaccine was more established before consenting. Among some mothers there was disappointment in the information they had received and a feeling that the concerns and questions of the Jewish community had not been addressed. Attitudes to HPV vaccine in religious communities may lead to reduced vaccine coverage. The development of community-specific information about the importance of the vaccine may help address concerns. Copyright © 2011 Elsevier Ltd. All rights reserved.

Designing a Curriculum Model for the Teaching of the Bible in UK Jewish Secondary Schools: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2012-01-01

This paper describes the process of designing a curriculum model for Bible teaching in UK Jewish secondary schools. This model was designed over the period 2008-2010 by a team of curriculum specialists from the Jewish Curriculum Partnership UK in collaboration with a group of teachers from Jewish secondary schools. The paper first outlines the…

Education across the Divide: Shared Learning of Separate Jewish and Arab Schools in a Mixed City in Israel

ERIC Educational Resources Information Center

Payes, Shany

2018-01-01

This article examines the impact of contact-based educational encounter strategies of shared learning on Jewish-Arab relations in Israel. It analyses a programme of education for shared life that takes place in a mixed (75% Jewish/25% Arab) city at the centre of Israel since 2012. The programme aims to mitigate Jewish-Arab relations in the city…

Prevalence of ADHD among 7-9-Year-Old Children in Israel. A Comparison between Jewish and Arab Populations.

PubMed

Ornoy, Asher; Ovadia, Moran; Rivkin, Dori; Milshtein, Ellen; Barlev, Lital

2016-01-01

The world prevalence of ADHD ranges between 5-10%. The prevalence in Israel was generally studied from prescriptions of methylphenidate and not from cohorts of children. We assessed the prevalence of ADHD among a cohort of early school age children in the Jewish and Arab populations using DSM-IV criteria and evaluated the difference between teachers' and parental assessment. We also studied in the Jewish population the differences in several social-behavioral parameters between children with and without ADHD. The rate of ADHD among the Jewish children was 9.5% and among the Arab children it was significantly lower - 7.35%. Teachers' evaluation in the Jewish population was 2.3 times higher than parental evaluation but in the Arab population it was closer to that of the parents, being only 12% higher. In addition, there were more regulatory, behavioral and learning problems among the Jewish children with ADHD compared to children without ADHD. The rates of ADHD in school age children among both Jews and Arabs fall within the average rate in other countries. The high difference between teachers' and parental assessment of ADHD in the Jewish population emphasizes that ADHD diagnosis should rely on the joint behavioral assessment of both. The prevalence of ADHD in Jewish early school age children is slightly higher than in Arab children and the inattentive type is the most common. There is a discrepancy between teachers' and parents' evaluation of children's behavior in the Jewish population, but this discrepancy is less in the Arab population.

Contemporary Anglo-Jewish community leadership: coping with multiculturalism.

PubMed

Gidley, Ben; Kahn-Harris, Keith

2012-03-01

In this article, drawing on qualitative interviews and documentary analysis, we argue that the Jewish community in Britain has undergone a fundamental shift since 1990 from a 'strategy of security', a strategy of communal leadership based on emphasizing the secure British citizenship and belonging of the UK's Jews, to a 'strategy of insecurity', where the communal leadership instead stresses an excess of security among Anglo-Jewry. We demonstrate this based on two case studies: of the Jewish renewal movement in the 1990s and the 'new antisemitism' phenomenon of the 2000s. We conclude that this shift is tied to the shift from a monocultural Britain to an officially multicultural one, and that therefore there are lessons that can be taken from it for the study of British and other multiculturalisms. © London School of Economics and Political Science 2012.

Not by bread alone: Lev Vygotsky's Jewish writings.

PubMed

Zavershneva, Ekaterina; van der Veer, René

2018-02-01

On the basis of both published and unpublished manuscripts written from 1914 to 1917, this article gives an overview of Lev Vygotsky's early ideas. It turns out that Vygotsky was very much involved in issues of Jewish culture and politics. Rather surprisingly, the young Vygotsky rejected all contemporary ideas to save the Jewish people from discrimination and persecution by creating an autonomous state in Palestine or elsewhere. Instead, until well into 1917, Vygotsky proposed the rather traditional option of strengthening the spiritual roots of the Jews by returning to the religious writings. Socialism was rejected, because it merely envisioned the compulsory redistribution of material goods and 'man lives not by bread alone'. It was only after the October Revolution that Vygotsky switched from arguments in favour of the religious faith in the Kingship of God to the communist belief in a Radiant Future.

Developing a measure of cultural-, maturity-, or esteem-driven modesty among Jewish women.

PubMed

Andrews, Caryn Scheinberg

2014-01-01

Understanding modesty and how it relates to religiosity among Jewish women was relatively unexplained, and as part of a larger study, a measure was needed. The purpose of this article is to report on three studies which represent the three stages of instrument development of a measure of modesty among Jewish women, "Your Views of Modesty": (a) content/concept definition; (b) instrument development; and (c) evaluation of the psychometric properties of the instrument: reliability and validity. In Study I, Q methodology was used to define the domain and results suggesting that modesty has multidimensions. In Study II, an instrument was developed based on distinctive perspectives from each group or what was important and not so important. This formed a 25-item Likert scale. In Study III, a survey of 300 Jewish women revealed internal consistency estimates with Cronbach's alpha 0.92, indicating high degree of internal consistency reliability for "Your Views of Modesty." For construct validity, four factors were found explaining 55% of the variance of modesty: (a) religion-driven, (b) maturity-driven, (c) esteem-driven, and (d) public-based modesty was identified. "Your Views of Modesty" shows good evidence for reliability and validity in this Jewish population.

Holding the Center: How One Jewish Day School Negotiates Differences in a Pluralistic Community

ERIC Educational Resources Information Center

Selis, Allen Harold

2010-01-01

This study centers on the experiences of students and religious study faculty in the high school division of "CDS," a successful Kindergarten through Twelfth grade Jewish day school that defines itself as a "community" institution. The school affirms a high-profile commitment to including "the widest spectrum of Jewish practice and belief" in its…

Teachers' Study Guide: The American Jewish Writer. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Zara, Louis

This guide was prepared to give an historical as well as a contemporary perspective on American Jewish authors and their writings. An introductory section presents information on such authors as Saul Bellow, Bernard Malamud, and Philip Roth; on the unique problems which Jewish writers have encountered in America; and on the breadth of current…

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.

PubMed

Dai, Mei; Liou, Benjamin; Swope, Brittany; Wang, Xiaohong; Zhang, Wujuan; Inskeep, Venette; Grabowski, Gregory A; Sun, Ying; Pan, Dao

2016-01-01

To study the neuronal deficits in neuronopathic Gaucher Disease (nGD), the chronological behavioral profiles and the age of onset of brain abnormalities were characterized in a chronic nGD mouse model (9V/null). Progressive accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) in the brain of 9V/null mice were observed at as early as 6 and 3 months of age for GC and GS, respectively. Abnormal accumulation of α-synuclein was present in the 9V/null brain as detected by immunofluorescence and Western blot analysis. In a repeated open-field test, the 9V/null mice (9 months and older) displayed significantly less environmental habituation and spent more time exploring the open-field than age-matched WT group, indicating the onset of short-term spatial memory deficits. In the marble burying test, the 9V/null group had a shorter latency to initiate burying activity at 3 months of age, whereas the latency increased significantly at ≥12 months of age; 9V/null females buried significantly more marbles to completion than the WT group, suggesting an abnormal response to the instinctive behavior and an abnormal activity in non-associative anxiety-like behavior. In the conditional fear test, only the 9V/null males exhibited a significant decrease in response to contextual fear, but both genders showed less response to auditory-cued fear compared to age- and gender-matched WT at 12 months of age. These results indicate hippocampus-related emotional memory defects. Abnormal gait emerged in 9V/null mice with wider front-paw and hind-paw widths, as well as longer stride in a gender-dependent manner with different ages of onset. Significantly higher liver- and spleen-to-body weight ratios were detected in 9V/null mice with different ages of onsets. These data provide temporal evaluation of neurobehavioral dysfunctions and brain pathology in 9V/null mice that can be used for experimental designs to evaluate novel therapies for nGD.

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease

PubMed Central

Dai, Mei; Liou, Benjamin; Swope, Brittany; Wang, Xiaohong; Zhang, Wujuan; Inskeep, Venette; Grabowski, Gregory A.; Sun, Ying; Pan, Dao

2016-01-01

To study the neuronal deficits in neuronopathic Gaucher Disease (nGD), the chronological behavioral profiles and the age of onset of brain abnormalities were characterized in a chronic nGD mouse model (9V/null). Progressive accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) in the brain of 9V/null mice were observed at as early as 6 and 3 months of age for GC and GS, respectively. Abnormal accumulation of α-synuclein was present in the 9V/null brain as detected by immunofluorescence and Western blot analysis. In a repeated open-field test, the 9V/null mice (9 months and older) displayed significantly less environmental habituation and spent more time exploring the open-field than age-matched WT group, indicating the onset of short-term spatial memory deficits. In the marble burying test, the 9V/null group had a shorter latency to initiate burying activity at 3 months of age, whereas the latency increased significantly at ≥12 months of age; 9V/null females buried significantly more marbles to completion than the WT group, suggesting an abnormal response to the instinctive behavior and an abnormal activity in non-associative anxiety-like behavior. In the conditional fear test, only the 9V/null males exhibited a significant decrease in response to contextual fear, but both genders showed less response to auditory-cued fear compared to age- and gender-matched WT at 12 months of age. These results indicate hippocampus-related emotional memory defects. Abnormal gait emerged in 9V/null mice with wider front-paw and hind-paw widths, as well as longer stride in a gender-dependent manner with different ages of onset. Significantly higher liver- and spleen-to-body weight ratios were detected in 9V/null mice with different ages of onsets. These data provide temporal evaluation of neurobehavioral dysfunctions and brain pathology in 9V/null mice that can be used for experimental designs to evaluate novel therapies for nGD. PMID:27598339

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.

PubMed

Zimran, Ari; Wajnrajch, Michael; Hernandez, Betina; Pastores, Gregory M

2018-02-23

Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the findings across six key taliglucerase alfa clinical studies. A total of 33 treatment-naïve adult patients were randomized to taliglucerase alfa 30 U/kg or 60 U/kg in a 9-month, multicentre, randomized, double-blind, parallel-group, dose-comparison pivotal study, after which eligible patients continued into two consecutive extension studies; 17 treatment-naïve adult patients completed 5 total years of treatment with taliglucerase alfa. In the only ERT study focused on exclusively paediatric patients with GD, 11 treatment-naïve children were randomized to taliglucerase alfa 30 U/kg or 60 U/kg in a 12-month, multicentre, double-blind study; nine completed 3 total years of treatment in a dedicated paediatric extension study. The effect of switching patients from imiglucerase to taliglucerase alfa was also investigated in a separate 9-month study that included 26 adults and five children; 10 adults completed a total of 3 years and two children completed a total of 2.75 years of taliglucerase alfa treatment in the extension studies. All studies evaluated safety and spleen volume, liver volume, platelet count, haemoglobin concentration, and biomarkers as measures of efficacy. Detailed results from baseline through the end of these studies are presented. Taliglucerase alfa was well tolerated, and adverse events were generally mild/moderate in severity and transient. Treatment with taliglucerase alfa resulted in improvements (treatment-naïve patients) or stability (patients switched from imiglucerase) in visceral, haematologic, and biomarker parameters. Together, this comprehensive data set supports the treatment of adult and paediatric patients with GD

Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease.

PubMed

Zimran, Ari; Durán, Gloria; Giraldo, Pilar; Rosenbaum, Hanna; Giona, Fiorina; Petakov, Milan; Terreros Muñoz, Eduardo; Solorio-Meza, Sergio Eduardo; Cooper, Peter A; Varughese, Sheeba; Alon, Sari; Chertkoff, Raul

2016-07-18

Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease (GD). PB-06-001, a pivotal phase 3, multicenter, randomized, double-blind, parallel-dose study investigated taliglucerase alfa 30 or 60U/kg every other week through 9months in treatment-naïve adults with GD; 30-month extension study PB-06-003 followed. Patients completing PB-06-001 and PB-06-003 could continue treatment in PB-06-007. Nineteen patients enrolled in PB-06-007 (30U/kg, n=8; 60U/kg, n=9; dose adjusted, n=2); 17 completed 5 total years of treatment. In these 3 groups, respectively, taliglucerase alfa resulted in mean decreases in spleen volume (-8.7, -6.9, -12.4 multiples of normal), liver volume (-0.6, -0.4, -0.5 multiples of normal), chitotriosidase activity (-83.1%, -93.4%, -87.9%), and chemokine (CC motif) ligand 18 concentration (-66.7%, -83.3%, -78.9%), as well as mean increases in hemoglobin concentration (+2.1, +2.1, +1.8mg/dL) and platelet count (+31,871, +106,800, +34,000/mm 3 ). The most common adverse events were nasopharyngitis and arthralgia. Most adverse events were mild/moderate; no serious adverse events were considered treatment-related. These results demonstrate continued improvement of disease parameters during 5years of taliglucerase alfa therapy in 17 treatment-naive patients with no new safety concerns, extending the taliglucerase alfa clinical efficacy and safety dataset. This study was registered at www.clinicaltrials.gov as NCT01422187. Copyright © 2016 Elsevier Inc. All rights reserved.

The Role of Heroes in Jewish Education

ERIC Educational Resources Information Center

Resnick, David

2002-01-01

Rosenak has shown that contemporary Jewish education must negotiate the tension between relevance and authenticity. For those who embrace authenticity as a goal, education is often mediated through heroes--who are ideal cultural types. Such education is hampered by the diminution of heroes in contemporary culture: The hero has been replaced by the…

Jewish Studies: A Guide to Reference Sources.

ERIC Educational Resources Information Center

McGill Univ., Montreal (Quebec). McLennan Library.

An annotated bibliography to the reference sources for Jewish Studies in the McLennan Library of McGill University (Canada) is presented. Any titles in Hebrew characters are listed by their transliterated equivalents. There is also a list of relevant Library of Congress Subject Headings. General reference sources listed are: encyclopedias,…

A Therapist's Perspective on Jewish Family Values

ERIC Educational Resources Information Center

Zuk, Gerald H.

1978-01-01

Family therapy has been deficient in accounting for the impact of ethnic, religious, and racial values on success or failure in treating families. Jewish families respond well in family therapy due to a set of values. An individual's neurotic disposition may evolve from conflicts between family values and independent identity. (Author/JEL)

The Student Voice in Designing a Jewish Studies High School Curriculum: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2017-01-01

In January 2012, a team of curriculum specialists based at Bar Ilan University in Israel were approached by a Jewish day school in Australia to design a new Jewish Studies curriculum for its school. The mandate was to design a curriculum model from first-steps that would form the basis for the new curriculum. This article demonstrates how…

The centrality of guilt: working with ultra-orthodox Jewish patients in Israel.

PubMed

Hess, Esther

2014-09-01

The ultra-orthodox Jewish (Haredi) community in Israel is characterized by strict observance of the requirements of orthodox Jewish life. Psychoanalytic psychotherapy within this community brings us into contact with guilt as a central emotion throughout the therapeutic process. The exposure to new concepts, ways of thought and a previously unknown space, together with increased awareness of internal wishes and drives, are experienced as forbidden areas that arouse an awakening of conscience and a sense of guilt. The author's cases illustrate these conflicts.

A Virtual "Veibershul": Blogging and the Blurring of Public and Private among Orthodox Jewish Women

ERIC Educational Resources Information Center

Lieber, Andrea

2010-01-01

A series of articles appearing in English-language Jewish newspapers in the United States and the United Kingdom have recently announced the "blogosphere"--the world of discourse propelled by the technological innovation of online interactive diaries known as "weblogs"--as a new liberating arena for Orthodox Jewish women. In…

Gay, Orthodox, and trembling: the rise of Jewish Orthodox gay consciousness, 1970s-2000s.

PubMed

Ariel, Yaakov

2007-01-01

In 2001, the documentary movie, Trembling Before God, was played in Jewish and gay film festivals around the world, provoking strong emotional reactions. Trembling Before God comprises interviews with Orthodox Jewish gay and lesbian persons who vividly and movingly describe their struggles to live their lives as observant Jewish people, being faithful at the same time to their sexual desires and their religious tradition. Almost all the people interviewed in the movie expressed mixed emotions: love towards their tradition and attachment to their community of faith, coupled with resentment against a community, which in their eyes failed to respond with understanding to their emotional needs, thus adding to their pain. This article aims to modify the picture portrayed in the movie. The dilemmas and struggles of gays and lesbians who live their lives in Orthodox Jewish communities are indeed real. Orthodox gays and lesbians experience a greater dissonance between their sexuality and the values of their community and therefore face more anxieties and inner turmoils than gays and lesbians who live in more permissive environments. The struggles of gay and lesbian Orthodox Jews, however, are not necessarily greater than those of gays and lesbians who live their lives in other conservative communities. In fact, while it is almost impossible to be a sexually active gay or lesbian and a practicing Southern Baptist, Seventh-Day Adventist, Jehovah's Witness, or Mormon, it is not impossible for gays and lesbians to live their lives in an Orthodox Jewish environment. Amazingly, since the 1970s, thousands of gays and lesbians have given up on liberal environments and joined the ranks of traditionalist Jewish congregations.

Spiritual Criminology: The Case of Jewish Criminology.

PubMed

Ronel, Natti; Ben Yair, Y

2018-05-01

Throughout the ages and in most cultures, spiritual and religious thinking have dealt extensively with offending (person against person and person against the Divine), the response to offending, and rehabilitation of offenders. Although modern criminology has generally overlooked that body of knowledge and experience, the study of spirituality and its relation to criminology is currently growing. Frequently, though, it is conducted from the secular scientific perspective, thus reducing spiritual knowledge into what is already known. Our aim here is to present a complementary perspective; that is, spiritual criminology that emerges from the spiritual perspective. Following a description of the state-of-the-art in criminological research concerning spirituality and its impact upon individuals, we focus on Jewish criminology as an illustrative case study, and present a spiritual Jewish view on good and evil, including factors that lead to criminality, the issue of free choice, the aim of punishment and societal response, crime desistance, rehabilitation, and prevention. The proposed establishment of spiritual criminology can be further developed by including parallel schools of spirituality, to create an integrated field in criminology.

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs.

PubMed

Ferragut, J F; Bentayebi, K; Pereira, R; Castro, J A; Amorim, A; Ramon, C; Picornell, A

2017-11-01

Population genetic data for 53 X-chromosome markers (32 X-indels, 9 X-Alu insertions and 12 X-STRs) are reported for five populations with Jewish ancestry (Sephardim, North African Jews, Middle Eastern Jews, Ashkenazim, and Chuetas) and Majorca, as the host population of Chuetas. Genetic distances between these populations demonstrated significant differences, except between Sephardic and North African Jews, with the Chuetas as the most differentiated group, in accordance with the particular demographic history of this population. X-chromosome analysis and a comparison with autosomal data suggest a generally sex-biased demographic history in Jewish populations. Asymmetry was found between female and male effective population sizes both in the admixture processes between Jewish communities, and between them and their respective non-Jewish host populations. Results further show that these X-linked markers are highly informative for forensic purposes, and highlight the need for specific databases for differentiated Jewish populations. Copyright © 2017 Elsevier B.V. All rights reserved.

Team-Based Simulation: Toward Developing Ethical Guidelines among American and Israeli Teachers in Jewish Schools

ERIC Educational Resources Information Center

Shapira-Lishchinsky, Orly; Glanz, Jeffrey; Shaer, Anat

2016-01-01

This study attempts to explore Israeli and American teachers' perceptions based on their ethical dilemmas in Jewish schools. A cross-national study was undertaken in Jewish schools, examining fifty teachers from Israel and fifty-one teachers from the United States. Designed with team-based simulations, this study revealed strong similarities…

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

PubMed

Hui, Ken Y; Fernandez-Hernandez, Heriberto; Hu, Jianzhong; Schaffner, Adam; Pankratz, Nathan; Hsu, Nai-Yun; Chuang, Ling-Shiang; Carmi, Shai; Villaverde, Nicole; Li, Xianting; Rivas, Manual; Levine, Adam P; Bao, Xiuliang; Labrias, Philippe R; Haritunians, Talin; Ruane, Darren; Gettler, Kyle; Chen, Ernie; Li, Dalin; Schiff, Elena R; Pontikos, Nikolas; Barzilai, Nir; Brant, Steven R; Bressman, Susan; Cheifetz, Adam S; Clark, Lorraine N; Daly, Mark J; Desnick, Robert J; Duerr, Richard H; Katz, Seymour; Lencz, Todd; Myers, Richard H; Ostrer, Harry; Ozelius, Laurie; Payami, Haydeh; Peter, Yakov; Rioux, John D; Segal, Anthony W; Scott, William K; Silverberg, Mark S; Vance, Jeffery M; Ubarretxena-Belandia, Iban; Foroud, Tatiana; Atzmon, Gil; Pe'er, Itsik; Ioannou, Yiannis; McGovern, Dermot P B; Yue, Zhenyu; Schadt, Eric E; Cho, Judy H; Peter, Inga

2018-01-10

Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10 -10 ) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3.3 × 10 -8 ). These variants affected CD age of onset, disease location, LRRK2 activity, and autophagy. Bayesian network analysis of CD patient intestinal tissue further implicated LRRK2 in CD pathogenesis. Analysis of the extended LRRK2 locus in 24,570 CD cases, patients with Parkinson's disease (PD), and healthy controls revealed extensive pleiotropy, with shared genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The LRRK2 N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD. Like the G2019S mutation, the N2081D variant was associated with increased kinase activity, whereas neither N551K nor R1398H variants on the protective haplotype altered kinase activity. We also confirmed that R1398H, but not N551K, increased guanosine triphosphate binding and hydrolyzing enzyme (GTPase) activity, thereby deactivating LRRK2. The presence of shared LRRK2 alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Approaches to Conflict Resolution between Ethnic and National Groups in Israel: Arab/Jewish and Western/Middle-Eastern Jewish Youth.

ERIC Educational Resources Information Center

Amir, Yehuda; Ben-Ari, Rachel

This paper discusses the means by which youth of conflicting nationalities may be taught to live together in Israel with mutual understanding and respect. The first part of the paper focuses on relations between Jewish and Arab youth, and suggests guidelines for designing a cross-cultural learning project to improve the relations between these…

Pre-modern Islamic medical ethics and Graeco-Islamic-Jewish embryology.

PubMed

Ghaly, Mohammed

2014-02-01

This article examines the, hitherto comparatively unexplored, reception of Greek embryology by medieval Muslim jurists. The article elaborates on the views attributed to Hippocrates (d. ca. 375 BC), which received attention from both Muslim physicians, such as Avicenna (d. 1037), and their Jewish peers living in the Muslim world including Ibn Jumay' (d. ca. 1198) and Moses Maimonides (d. 1204). The religio-ethical implications of these Graeco-Islamic-Jewish embryological views were fathomed out by the two medieval Muslim jurists Shihāb al-Dīn al-Qarāfī (d. 1285) and Ibn al-Qayyim (d. 1350). By putting these medieval religio-ethical discussions into the limelight, the article aims to argue for a two-pronged thesis. Firstly, pre-modern medical ethics did exist in the Islamic tradition and available evidence shows that this field had a multidisciplinary character where the Islamic scriptures and the Graeco-Islamic-Jewish medical legacy were highly intertwined. This information problematizes the postulate claiming that medieval Muslim jurists were hostile to the so-called 'ancient sciences'. Secondly, these medieval religio-ethical discussions remain playing a significant role in shaping the nascent field of contemporary Islamic bioethics. However, examining the exact character and scope of this role still requires further academic ventures. © 2013 John Wiley & Sons Ltd.

Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives

PubMed Central

Gupte, Manisha; Alcalay, Roy N.; Mejia-Santana, Helen; Raymond, Deborah; Saunders-Pullman, Rachel; Roos, Ernest; Orbe-Reily, Martha; Tang, Ming-X; Mirelman, Anat; Ozelius, Laurie; Orr-Urtreger, Avi; Clark, Lorraine; Giladi, Nir; Bressman, Susan

2014-01-01

Our objective was to explore interest in genetic testing among Ashkenazi Jewish (AJ) Parkinson’s Disease (PD) cases and first-degree relatives, as genetic testing for LRRK2 G2019S is widely available. Approximately 18 % of AJ PD cases carry G2019S mutations; penetrance estimations vary between 24 and 100 % by age 80. A Genetic Attitude Questionnaire (GAQ) was administered at two New York sites to PD families unaware of LRRK2 G2019S mutation status. The association of G2019S, age, education, gender and family history of PD with desire for genetic testing (outcome) was modeled using logistic regression. One-hundred eleven PD cases and 77 relatives completed the GAQ. Both PD cases and relatives had excellent PD-specific genetic knowledge. Among PD, 32.6 % “definitely” and 41.1 % “probably” wanted testing, if offered “now.” Among relatives, 23.6 % “definitely” and 36.1 % “probably” wanted testing “now.” Desire for testing in relatives increased incrementally based on hypothetical risk of PD. The most important reasons for testing in probands and relatives were: if it influenced medication response, identifying no mutation, and early prevention and treatment. In logistic regression, older age was associated with less desire for testing in probands OR=0.921 95%CI 0.868–0.977, p=0.009. Both probands and relatives express interest in genetic testing, despite no link to current treatment or prevention. PMID:25127731

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry.

PubMed

Atzmon, Gil; Hao, Li; Pe'er, Itsik; Velez, Christopher; Pearlman, Alexander; Palamara, Pier Francesco; Morrow, Bernice; Friedman, Eitan; Oddoux, Carole; Burns, Edward; Ostrer, Harry

2010-06-11

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

PubMed Central

Atzmon, Gil; Hao, Li; Pe'er, Itsik; Velez, Christopher; Pearlman, Alexander; Palamara, Pier Francesco; Morrow, Bernice; Friedman, Eitan; Oddoux, Carole; Burns, Edward; Ostrer, Harry

2010-01-01

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads. PMID:20560205

Putting context into a cultural perspective: examining Arab and Jewish adolescents' judgments and reasoning about spousal retribution.

PubMed

Pitner, Ronald O; Astor, Ron Avi; Benbenishty, Rami; Haj-Yahia, Muhammad M; Zeira, Anat

2011-05-01

In this study, we examined what contextual factors influence adolescents' judgments and reasoning about spousal retribution. Adolescents were drawn from Central and Northern Israel and consisted of 2,324 Arab and Jewish students (Grades 7-11). The study was set up in a 2 (Arab/Jewish respondent) × 2 (spousal retribution scenarios) factorial design. Our findings suggest that societal and cultural norms may be more powerful contextual variables than group stereotypes in influencing Arab and Jewish adolescents' evaluations of spousal retribution. Theoretical and practical implications are discussed.

Moral judgments about Jewish-Arab intergroup exclusion: The role of cultural identity and contact

PubMed Central

Brenick, Alaina; Killen, Melanie

2014-01-01

Prejudice and discrimination as justifications for social exclusion are often viewed as violations of the moral principles of welfare, justice, and equality but intergroup exclusion can also often be viewed as a necessary and legitimate means to maintain group identity and cohesion (Rutland, Killen, & Abrams, 2010). The current study was guided by the Social Reasoning Developmental perspective (Killen & Rutland, 2011) to examine the moral judgments of social exclusion encounters, and the degree to which cultural identity and actual contact with members of other cultural groups is related to social evaluations. Surprisingly, no research has examined how intergroup contact bears on moral judgments about Jewish-Arab encounters in the U.S. The present study surveyed 241 Jewish and 249 non-Arab/non-Jewish (comparison group) 14 and 17 year olds to assess their cultural identification, intergroup contact, and moral judgments regarding intergroup peer social exclusion situations between Jewish and Arab youth in peer, home, and community contexts. Participants overwhelmingly rejected exclusion of an outgroup member explicitly because of their group membership, though male and Jewish participants were more accepting of such exclusion and less accepting of including an outgroup member. Context effects emerged, and exclusion was rated as most acceptable in the community context and least acceptable in the peer context. Three factors of identity (i.e., exploration, commitment, and concern for relationships) were explored. Generally, higher identity commitment and lower identity concern for relationships were related to more inclusive evaluations. Interactions between the identity factors and intergroup contact and cultural group, however, differentially predicted evaluations of intergroup exclusion. PMID:24188040

Histopathologic Differences between Jewish and Arab Population in Israel at First-Time Presentation with Bladder Cancer.

PubMed

Avitan, Ofir; Bahouth, Zaher; Halachmi, Sarel; Shprits, Sagi; Masarwa, Ismail; Sabo, Edmond; Moskovitz, Boaz; Nativ, Ofer

2017-01-01

Pathology of urothelial carcinoma may vary in different populations at diagnosis. Our aim was to evaluate the histopathologic differences between Jewish and Arab patients in Israel at first diagnosis of urothelial cancer. We retrospectively collected data of all patients with confirmed urothelial cancer, treated at our department between January 2010 and January 2015. We examined the distribution of the histopathologic data among the studied populations. To compare the categorical variables we used the Chi-Square Pearson test. Comparison of independent variables was made by Student's t -test. P value below 0.05 was considered significant. The study group included 413 patients, 345 Jews and 68 Arabs. The major differences were that Arab patients were younger (62.61 versus 68.55 years, P = 0.001), had more aggressive tumors that were detected at a more advanced stage, and had also a higher rate of metastatic disease (7.4% versus 3.2%, P = 0.05). Nonurothelial cell tumors were 2.3 times more prevalent in Arab population. Unlike Jewish population, Arab women had higher rate of invasive/metastatic disease compared with Arab men (40% versus 22.4%). At time of diagnosis the tumors were more aggressive in Arab patients, especially in Arab women. The reasons for those differences constitute a target for a separate research. These results should have an impact on prevention medicine and education of physicians treating mixed populations.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

PubMed

Smith, Laurie; Rhead, William; Charrow, Joel; Shankar, Suma P; Bavdekar, Ashish; Longo, Nicola; Mardach, Rebecca; Harmatz, Paul; Hangartner, Thomas; Lee, Hak-Myung; Crombez, Eric; Pastores, Gregory M

2016-02-01

Gaucher Disease type 1 (GD1) often manifests in childhood. Early treatment with enzyme replacement therapy (ERT) may prevent disease complications. We report the assessment of velaglucerase alfa ERT in pediatric GD1 patients who participated in a long-term extension study (HGT-GCB-044, ClinicalTrials.gov Identifier NCT00635427). Safety and efficacy were evaluated in pediatric patients receiving velaglucerase alfa 30-60U/kg by intravenous infusion every other week. In addition to key hematological and visceral efficacy assessments, exploratory assessments conducted specifically in pediatric patients included evaluation of height, bone age, bone marrow burden, and Tanner stage of puberty. The study included 24 pediatric patients. Fifteen patients were naïve to ERT on entry into the preceding trials TKT032 (12-month trial) or HGT-GCB-039 (9-month trial): in the preceding trials, ten of these 15 patients received velaglucerase alfa and five patients received imiglucerase ERT. Nine patients in the study were previously treated with imiglucerase for >30months and were switched to velaglucerase alfa in the preceding trial TKT034 (12-month trial). Cumulative ERT exposure in the clinical studies ranged from 2.0 to 5.8years. Three serious adverse events, including a fatal convulsion, were reported; none were deemed related to velaglucerase alfa. One patient tested positive for anti-velaglucerase alfa antibodies. An efficacy assessment at 24months showed that velaglucerase alfa had positive effects on primary hematological and visceral parameters in treatment-naïve patients, which were maintained with longer-term treatment. Disease parameters were stable in patients switched from long-term imiglucerase ERT. Exploratory results may suggest benefits of early treatment to enable normal growth in pediatric patients. The safety profile and clinical response seen in pediatric patients are consistent with results reported in adults. Copyright © 2016 Shire Development LLC

Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry.

PubMed

Jones, E Ellen; Zhang, Wujuan; Zhao, Xueheng; Quiason, Cristine; Dale, Stephanie; Shahidi-Latham, Sheerin; Grabowski, Gregory A; Setchell, Kenneth D R; Drake, Richard R; Sun, Ying

2017-12-01

To better understand regional brain glycosphingolipid (GSL) accumulation in Gaucher disease (GD) and its relationship to neuropathology, a feasibility study using mass spectrometry and immunohistochemistry was conducted using brains derived from a GD mouse model (4L/PS/NA) homozygous for a mutant GCase (V394L [4L]) and expressing a prosaposin hypomorphic (PS-NA) transgene. Whole brains from GD and control animals were collected using one hemisphere for MALDI FTICR IMS analysis and the other for quantitation by LC-ESI-MS/MS. MALDI IMS detected several HexCers across the brains. Comparison with the brain hematoxylin and eosin (H&E) revealed differential signal distributions in the midbrain, brain stem, and CB of the GD brain versus the control. Quantitation of serial brain sections with LC-ESI-MS/MS supported the imaging results, finding the overall HexCer levels in the 4L/PS-NA brains to be four times higher than the control. LC-ESI-MS/MS also confirmed that the elevated hexosyl isomers were glucosylceramides rather than galactosylceramides. MALDI imaging also detected differential analyte distributions of lactosylceramide species and gangliosides in the 4L/PS-NA brain, which was validated by LC-ESI-MS/MS. Immunohistochemistry revealed regional inflammation, altered autophagy, and defective protein degradation correlating with regions of GSL accumulation, suggesting that specific GSLs may have distinct neuropathological effects.

Marx and the Kabbalah: Aaron Shemuel Lieberman's Materialist Interpretation of Jewish History.

PubMed

Stern, Eliyahu

2018-01-01

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.

Change in health behaviours following acute coronary syndrome: Arab-Jewish differences.

PubMed

Reges, Orna; Vilchinsky, Noa; Leibowitz, Morton; Khaskia, Abdulrahem; Mosseri, Morris; Kark, Jeremy D

2015-04-01

Health-promoting behaviours after acute coronary syndrome (ACS) are effective in preventing recurrence. Ethnicity impacts on such behaviours. We assessed the independent association of Arab vs. Jewish ethnicity with persistence of smoking and physical inactivity 6 months after ACS in central Israel. Prospective cohort study. During their admission for ACS and subsequently 6 months later, 420 patients were interviewed about their smoking and exercise habits. The association of ethnicity with health-promoting behaviours was assessed by logistic regression adjusting for socio-demographic and clinical covariates. Smoking prevalence and physical inactivity were substantially higher among Arab patients than Jewish patients at admission (gender-adjusted prevalence rate ratio (RR) 2.25, 95% CI 1.80-2.81, p < 0.01 and RR 1.46, 95% CI 1.28-1.67, p < 0.001, respectively). The relative differences increased at 6 months (RR 2.94, 95% CI 2.13-4.07, p < 0.001 and RR 3.00, 95% CI 2.24-4.04, p < 0.001, respectively). Excess persistent smoking at 6 months among Arab vs. Jewish patients who were smokers at admission (adjusted OR 2.05, 95% CI 1.00-4.20, p = 0.049) was largely mediated through the 3.5-fold higher participation of Jewish patients in cardiac prevention and rehabilitation program (CPRP) (OR adjusted also for CPRP 1.31, 95% CI 0.59-2.93, p = 0.51). Greater persistent sedentary behaviour at 6 months among nonexercisers at admission among Arab patients (adjusted OR 3.68, 95% CI 1.93-7.02, p < 0.001) was partly mediated through attendance of CPRP (OR adjusted also for CPRP 2.38, 95% CI 1.19-4.76, p = 0.014). Culturally sensitive programmes need to be developed to enhance CPRP participation and favourable health-promoting changes among Arab patients. A comprehensive understanding of the determinants of the Arab-Jewish differences in efficacious health-promoting behaviours is crucial to inform appropriate ethnic-specific health

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population

PubMed Central

Tashi, Tsewang; Lorenzo, Felipe Ramos; Feusier, Julie Ellen; Mir, Hyder

2016-01-01

The Kashmiri population is an ethno-linguistic group that resides in the Kashmir Valley in northern India. A longstanding hypothesis is that this population derives ancestry from Jewish and/or Greek sources. There is historical and archaeological evidence of ancient Greek presence in India and Kashmir. Further, some historical accounts suggest ancient Hebrew ancestry as well. To date, it has not been determined whether signatures of Greek or Jewish admixture can be detected in the Kashmiri population. Using genome-wide genotyping and admixture detection methods, we determined there are no significant or substantial signs of Greek or Jewish admixture in modern-day Kashmiris. The ancestry of Kashmiri Tibetans was also determined, which showed signs of admixture with populations from northern India and west Eurasia. These results contribute to our understanding of the existing population structure in northern India and its surrounding geographical areas. PMID:27490348

The Learning of Arabic by Israeli Jewish Children.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1998-01-01

Examines the learning of Arabic by Israeli Jewish children. Finds that children displayed negative attitudes toward learning Arabic, but had positive attitudes toward the classroom situation. Also finds that classroom situation was the best predictor of learning success. Suggests that children are influenced more by classroom environment than by…

Sexuality in advanced age in Jewish thought and law.

PubMed

David, Benjamin E; Weitzman, Gideon A

2015-01-01

Judaism has a positive attitude to sexual relations within a marriage, and views such sexual relations as important not only for procreation but also as part of the framework of marriage. This is true for any age group, and sexuality is seen as an essential element of marriage for couples of advanced age. In this article, the authors present the views of Jewish law and thought regarding sexuality among older couples. The authors illustrate this using 3 case studies of couples who sought guidance in the area of sexuality. In addition, this area of counseling benefits greatly from an ongoing relationship and dialogue between expert rabbis in the field and therapists treating older Orthodox Jewish patients for sexual dysfunction. The triad relationship of couple, therapist, and rabbi enhances the ability to treat and assist such couples to seek treatment and overcome their difficulties.

Influence of Judaism and Jewish physicians on Greek and Byzantine medicine and their contribution to nephrology.

PubMed

Massry, S G; Smogorzewski, M; Hazani, E; Shasha, S M

1997-01-01

Both the Old Testament and the Talmud contain a great deal of information on medicine, nephrology, health and disease. The basic premise of early Jewish medicine is based on the notion that disease is due to structural changes in internal organs. This is in contrast to the mythical dogma of humoralism as the basis of health and disease espoused by Hippocrates and Galen. The Old Testament and the Mosaic Codes provided the basis for modern public health and for the hygienic rules practised in our times. The Talmudists laid the foundations for the science of pathology as we know it today. These issues are discussed in detail and the contributions of three prominent medieval physicians (Asaph Judaeus, Isaac Judaeus and Maimonides) are presented.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families†

PubMed Central

Chang, Wendy; Winder, Thomas L.; LeDuc, Charles A.; Simpson, Lynn L.; Millar, William S.; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A.; Chung, Wendy K.

2009-01-01

Objective Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. Method We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. Results We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. Conclusion These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. PMID:19266496

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

PubMed

Chang, Wendy; Winder, Thomas L; LeDuc, Charles A; Simpson, Lynn L; Millar, William S; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A; Chung, Wendy K

2009-06-01

Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. Copyright (c) 2009 John Wiley & Sons, Ltd.

Attitudes towards Bilingual Arab-Hebrew Education in Israel: A Comparative Study of Jewish and Arab Adults

ERIC Educational Resources Information Center

Azaiza, Faisal; Hertz-Lazarowitz, Rachel; Shoham, Meyrav; Amara, Muhammad; Mor-Sommerfeld, Aura; 'Ali, Nohad

2011-01-01

This study examines attitudes towards bilingual Jewish-Arab education among Jewish and Arab adults in Israel. The sample consisted of 1014 respondents who participated in a national phone survey in late 2006. Results indicate that Arabs are significantly more supportive of bilingual education in Israel than Jews. Positive attitudes regarding the…

Introducing a brief measure of cultural and religious identification in American Jewish identity.

PubMed

Friedlander, Myrna L; Friedman, Michelle L; Miller, Matthew J; Ellis, Michael V; Friedlander, Lee K; Mikhaylov, Vadim G

2010-07-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed the initial AJIS and various measures of ethnic identity, collective self-esteem, and religiosity. Using confirmatory factor analyses, the authors selected and cross-validated 33 items that loaded highly and differentially on the 2 theorized latent factors. Study 3 assessed the AJIS's short-term stability and its relation to social desirability. Tests of reliability and construct validity provided initial psychometric support for the measure and confirmed the theorized primary salience of cultural identification. Participants reported significantly more private than public collective self-esteem, and the most Jewish-identified participants reported greater private self-esteem, acculturative stress, and perceived discrimination than did their more assimilated counterparts. (c) 2010 APA, all rights reserved.

76 FR 25517 - Jewish American Heritage Month, 2011

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-05

... our Nation's founding, America's shores have been a safe harbor for people seeking shelter, hope, and... service in our Nation's military. Jewish Americans have defended our country since the days of the... in our Armed Forces. Nearly 70 years ago, during World War II, the U.S.A.T. Dorchester suffered an...

Age, gender and risk factor disparities in first-stroke Jewish and Arab patients in Israel undergoing rehabilitation.

PubMed

Greenberg, Elina; Treger, Iuly; Schwarz, Juliana

2011-11-01

Little is known of the risk factor disparities in first stroke among Jewish and Arab patients undergoing rehabilitation in Israel. To investigate the age, gender and risk factor disparities in first stroke among Jewish (immigrant and non-immigrant) and Arab patients undergoing rehabilitation and to compare the prevalence and odds ratio of stroke risk factors in these patients. The database of the Department of Neurological Rehabilitation C at Loewenstein Rehabilitation Center was used to investigate first ischemic and hemorrhagic stroke patients admitted for hospital rehabilitation over a 15 year period, January 1993 to December 2008. Particular attention was paid to age, gender and risk factor disparities. The 2000 patients with first stroke who were included in the study were grouped as Jewish (immigrant and non-immigrant) orArab; there were 237 Arabs, 370 non-immigrant Jews and 1393 immigrant Jews. A high percentage of Arab patients were found to have hypertension and diabetes mellitus, while a high percentage of Jewish immigrants had stenosis of the internal carotid artery. The study demonstrated some differences in the effect of risk factors between the groups. It may be important to address such differences when developing stroke preventative strategies in this population of Jewish and Arab stroke survivors in Israel.

Domestic Violence in Arab Society: A Comparison of Arab and Jewish Women in Shelters in Israel.

PubMed

Ben-Porat, Anat; Levy, Drorit; Kattoura, Ola; Dekel, Rachel; Itzhaky, Haya

2017-09-01

The aim of the current study was to address a gap in the literature by determining prevalence, specific types of violence, and risk factors of intimate partner violence (IPV) among Israeli born Arab women compared with Israeli born Jewish women. The following measures were compared: demographic and socioeconomic measures; measures relating to the characteristics of the violence, that is, the three types of violence (physical, emotional, and verbally threatening), sense of danger, and history of violence in childhood; family support levels; and perpetrator characteristics. The sample consisted of 154 Israeli born Arab women and 149 Israeli born Jewish women who were staying in shelters for victims of domestic violence in Israel. A comparison of the two groups revealed that the Arab women were exposed to more physical violence and received less family support than did their Jewish counterparts. The proportion of Arab perpetrators with access to weapons was higher than that of Jewish perpetrators, whereas the proportion of police complaints against Jewish perpetrators was higher than that against Arab perpetrators. Arab women were also younger, less educated, and less a part of the workforce than Jewish women. The contribution of the woman's age to the variance in levels of physical violence was negative and significant. In contrast, the contribution of her sense of danger, and various perpetrator characteristics, was positive. Moreover, the interaction between sense of danger × ethnicity contributed significantly to levels of violence. This study extends the existing knowledge about the contribution of ethnicity as one of many variables that play a role in the lives of women who are victims of domestic violence and highlights the need to develop, in particular, unique individual, community, and social interventions for Arab women in Israeli society.

A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.

PubMed

Ida, Hiroyuki; Tanaka, Akemi; Matsubayashi, Tomoko; Murayama, Kei; Hongo, Teruaki; Lee, Hak-Myung; Mellgard, Björn

2016-07-01

Enzyme replacement therapy (ERT) with exogenous glucocerebrosidase is indicated to treat symptomatic Gaucher disease (GD), a rare, inherited metabolic disorder. ERT with velaglucerase alfa, which is produced in a human cell line using gene activation technology, was studied in a 12-month phase III trial in Japanese patients with type 1 or 3 GD who were switched from imiglucerase ERT (n=6); the current, open-label, 12-month extension study was designed to assess longer-term safety and efficacy. Two adult and three pediatric patients (aged <18years) were enrolled into the extension study. Every-other-week intravenous infusions were administered for 63-78weeks at average doses between 51.5 and 60.7units/kg. Three non-serious adverse events were considered related to velaglucerase alfa treatment, but no patient discontinued from the study. Six serious but non-drug-related adverse events were reported. No patient tested positive for anti-velaglucerase alfa antibodies. Hemoglobin concentrations, platelet counts, and liver and spleen volumes (normalized to body weight) in these patients were generally stable over a cumulative 24-month period from the baseline of the parent trial. The data suggest that velaglucerase alfa was well tolerated and maintained clinical stability in Japanese GD patients over 2years after switching from imiglucerase. ClinicalTrials.gov identifier NCT01842841. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

The use of narrative in Jewish medical ethics.

PubMed

Jotkowitz, Alan

2013-09-01

Anne Jones has pointed out that over the last three decades, stories have been important to medical ethics in at least three ways: (1). Stories as cases for teaching principle-based medical ethics (2). Narratives for moral guides on what is considered living a good life (3). Stories as testimonials written by both patients and physicians. A pioneer in this effort, particularly in regard to using narratives as moral guides, has been the ethicist and philosopher Stanley Hauerwas. Heavily influenced by virtue ethics, Hauerwas believes that it is a person's particular narrative tradition that provides one with convictions that form the basis of one's morality. Befitting a Protestant theologian, he is particularly concerned with the Christian narrative. From a Jewish perspective, there has been much less written on the use of narrative in medical ethics. However, it is a mistake to think that narrative has little, if any, role in Rabbinic ethical decision making. The purpose of this article is to demonstrate the centrality of narrative in the thought of Orthodox Jewish decisors and the problems inherent in this methodology.

Ethnicity moderates the effects of resources on adjustment of Jewish and Arab mothers of children diagnosed with cancer.

PubMed

Ben-Zur, Hasida; Khoury, Siwar Makhoul

2017-01-01

The study aimed to explore the adjustment of Jewish and Arab mothers of children diagnosed with cancer. Ninety-seven Jewish and 100 Arab mothers completed questionnaires assessing mastery, social support, and adjustment (psychological distress, quality of life, and future fears and hopes). Arab mothers were higher than Jewish mothers on distress and lower on social support and future hopes). Mastery and social support contributed independently to adjustment indices. Ethnicity moderated the effects of mastery and social support on adjustment. Ethnicity, mastery, and social support are important factors in mothers' adjustment to their child's cancer.

Histopathologic Differences between Jewish and Arab Population in Israel at First-Time Presentation with Bladder Cancer

PubMed Central

Halachmi, Sarel; Shprits, Sagi; Masarwa, Ismail; Sabo, Edmond; Moskovitz, Boaz; Nativ, Ofer

2017-01-01

Background Pathology of urothelial carcinoma may vary in different populations at diagnosis. Our aim was to evaluate the histopathologic differences between Jewish and Arab patients in Israel at first diagnosis of urothelial cancer. Patients and Methods We retrospectively collected data of all patients with confirmed urothelial cancer, treated at our department between January 2010 and January 2015. We examined the distribution of the histopathologic data among the studied populations. To compare the categorical variables we used the Chi-Square Pearson test. Comparison of independent variables was made by Student's t-test. P value below 0.05 was considered significant. Results The study group included 413 patients, 345 Jews and 68 Arabs. The major differences were that Arab patients were younger (62.61 versus 68.55 years, P = 0.001), had more aggressive tumors that were detected at a more advanced stage, and had also a higher rate of metastatic disease (7.4% versus 3.2%, P = 0.05). Nonurothelial cell tumors were 2.3 times more prevalent in Arab population. Unlike Jewish population, Arab women had higher rate of invasive/metastatic disease compared with Arab men (40% versus 22.4%). Conclusion At time of diagnosis the tumors were more aggressive in Arab patients, especially in Arab women. The reasons for those differences constitute a target for a separate research. These results should have an impact on prevention medicine and education of physicians treating mixed populations. PMID:28812022

The Parent Perspective: Disabilities and Jewish Day Schools

ERIC Educational Resources Information Center

Uhrman, Abigail L.

2017-01-01

The following study describes the experiences of parents with a child with a disability in Jewish day schools. The findings suggest marked differences in the experiences of parents whose child was able to remain in the day school and those who left as a result of their child's disability. In the latter group, the themes of loneliness and…

Reinventing Religion: Jewish Religion Textbooks in Russian Gymnasia

ERIC Educational Resources Information Center

Adler, Eliyana R.

2011-01-01

This article examines 10 textbooks used in Jewish religion classes in Russian high schools in the final decades of the 19th century. The textbooks reveal an expectation of a low level of Hebrew background, an interest in promoting the practice of prayer, and two distinct approaches to teaching Judaism. While some of the books introduce students to…

A Movie Case Study of Anemic Jewish Education

ERIC Educational Resources Information Center

Resnick, David

2011-01-01

"Keeping Up with the Steins" (2006) is the first Hollywood film to focus on the Bar Mitzvah ceremony in its family, congregational, and Jewish community context. The film demonstrates how popular culture reflects community values, but may also shape them. The hero is alienated both from the synagogue service and his mega-Bar Mitzvah party. In line…

Cultural Transitioning of Jewish Immigrants: Education, Employment and Integration

ERIC Educational Resources Information Center

Sinacore, Ada; Mikhail, Anne-Marie; Kassan, Anusha; Lerner, Alexandra

2009-01-01

This paper discusses the cultural transitioning process that immigrants undergo in order to attain educational, occupational, and social integration within Canadian society. Results of this phenomenological study examining 31 Jewish immigrants from Argentina, Israel, France and the Former Soviet Union, reveal that lack of educational equivalency…

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.

PubMed

Barkhuizen, Melinda; Anderson, David G; van der Westhuizen, Francois H; Grobler, Anne F

2017-03-01

The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of GBA substitutions in South Africans with idiopathic Parkinson's disease. Participants were recruited from tertiary hospitals in the Gauteng Province in South Africa. All participants were screened for substitutions in GBA exon 8-11 and the full coding region was analysed in 20 participants. Peripheral β -glucocerebrosidase enzymatic activity of GBA -carriers was measured in mixed leukocytes. Of 105 Caucasian Parkinson's disease participants (82.7% Afrikaner) with an average age of disease onset of 61.9 ± 12.2 years and 40 controls (age 73.4 ± 12.4 years) were included. Heterozygous GBA substitutions were identified in 12.38% of affected participants (p.G35A, p.E326K, p.I368T, p.T369M, p.N370S, p.P387L and p.K441N) and 5.00% of controls (p.E326K and p.T369M). The substitutions ranged from predicted benign to moderately damaging; with p.E326K and p.T369M most prevalent, followed by the Afrikaner Gaucher disease substitution p.P387L. Severe Gaucher disease mutations, like p.L444P, were absent in this cohort. Enzyme activity analysis revealed a nonsignificant reduction in the GBA -Parkinson's disease individuals (14.49 ± 2.30 nmol/h/mg protein vs. 15.98 ± 3.06 nmol/h/mg in control samples). GBA substitutions occur in both young-onset and late-onset Parkinson's cases in the cohort. Mild GBA substitutions that may not cause Gaucher disease were a common risk factor for Parkinson's disease in the participant group.

Reflections on palliative care from the jewish and islamic tradition.

PubMed

Schultz, Michael; Baddarni, Kassim; Bar-Sela, Gil

2012-01-01

Spiritual care is a vital part of holistic patient care. Awareness of common patient beliefs will facilitate discussions about spirituality. Such conversations are inherently good for the patient, deepen the caring staff-patient-family relationship, and enhance understanding of how beliefs influence care decisions. All healthcare providers are likely to encounter Muslim patients, yet many lack basic knowledge of the Muslim faith and of the applications of Islamic teachings to palliative care. Similarly, some of the concepts underlying positive Jewish approaches to palliative care are not well known. We outline Jewish and Islamic attitudes toward suffering, treatment, and the end of life. We discuss our religions' approaches to treatments deemed unnecessary by medical staff, and consider some of the cultural reasons that patients and family members might object to palliative care, concluding with specific suggestions for the medical team.

Reflections on Palliative Care from the Jewish and Islamic Tradition

PubMed Central

Schultz, Michael; Baddarni, Kassim; Bar-Sela, Gil

2012-01-01

Spiritual care is a vital part of holistic patient care. Awareness of common patient beliefs will facilitate discussions about spirituality. Such conversations are inherently good for the patient, deepen the caring staff-patient-family relationship, and enhance understanding of how beliefs influence care decisions. All healthcare providers are likely to encounter Muslim patients, yet many lack basic knowledge of the Muslim faith and of the applications of Islamic teachings to palliative care. Similarly, some of the concepts underlying positive Jewish approaches to palliative care are not well known. We outline Jewish and Islamic attitudes toward suffering, treatment, and the end of life. We discuss our religions' approaches to treatments deemed unnecessary by medical staff, and consider some of the cultural reasons that patients and family members might object to palliative care, concluding with specific suggestions for the medical team. PMID:22203878

Experiential learning and values education at a school youth camp: Maintaining Jewish culture and heritage

NASA Astrophysics Data System (ADS)

Gross, Zehavit; Rutland, Suzanne D.

2017-02-01

In our post-modern, globalised world, there is a risk of unique cultural heritages being lost. This loss contributes to the detriment of civilization, because individuals need to be rooted in their own specific identity in order to actively participate in community life. This article discusses a longitudinal case study of the efforts being made by Australian Jewish schools to maintain Jewish heritage through annual experiential religious education camps, coordinated in a programme called Counterpoint. The researchers' aim was to analyse how a school youth camp can serve as a site for socialisation and education into a cultural and religious heritage through experiential learning and informal education. During research trips which took place over several years, interviews enabling insights into the process of experiential education were conducted with a total of three different Directors of Informal Jewish Education, two Jewish Studies heads, five participating teachers, seven youth leaders, as well as seven student focus groups. In their analysis of the semi-structured interviews, the authors of this article employed a grounded theory approach using a constant comparative method, which enabled a more nuanced understanding of the main phenomenon investigated. Over the years, they were able to observe two philosophical approaches, one of which focused more on socialisation, with immersion into experience, while the other focused on education, with immersion into Jewish knowledge. Their findings reveal that some educators aim to "transmit" knowledge through "evocation", with the students involved in active learning; while others focus more on students' "acquisition" of knowledge through transmission. Experiential learning activities were found to be more meaningful and powerful if they combined both approaches, leading to growth.

A Culturally Appropriate School Wellness Initiative: Results of a 2-Year Pilot Intervention in 2 Jewish Schools

ERIC Educational Resources Information Center

Benjamins, Maureen R.; Whitman, Steven

2010-01-01

Background: Despite the growing number of school-based interventions designed to reduce childhood obesity or otherwise promote health, no models or materials were found for Jewish schools. The current study describes an effort within a Jewish school system in Chicago to create, implement, and evaluate a school-based intervention tailored to the…

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-05-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available.

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed Central

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-01-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available. PMID:380330

Collective identity and intergroup prejudice among Jewish and Arab students in the United States.

PubMed

Ruttenberg, J; Zea, M C; Sigelman, C K

1996-04-01

Relationships between indicators of collective identity (collective self-esteem, religious involvement, and involvement in ethnic organizations) and prejudice toward the other-group were examined in a sample of Jewish and Arab students in the United States. Contrary to expectations, collective identity variables were largely unrelated to prejudice among the Jewish students, although the Jewish students who expressed the least amount of anti-Arab sentiment were those who were the most religious. As expected, the Arab students who (a) had low public collective self-esteem and (b) were highly involved in religious and ethnic organizations tended to be the most prejudiced. The findings for Arab students, in particular, contradict findings obtained in the laboratory, using the minimal intergroup paradigm, and suggest that individuals who are highly involved in in-group activities but believe their group is not viewed favorably by others may derogate the members of a salient out-group in an attempt to acquire a more positive social identity.

Worries Occasioned by Woocher's Conception of Jewish Education

ERIC Educational Resources Information Center

Pekarsky, Daniel

2012-01-01

Jonathan Woocher is to be commended for offering his thought-provoking "big picture" account of where the field of Jewish education has been and where, if it is to be successful, it needs to be going under the conditions of life in the 21st century. Woocher's capacity to use an array of relevant perspectives and literatures to illuminate the…

Extraordinary Evil or Common Malevolence? Evaluating the Jewish Holocaust.

ERIC Educational Resources Information Center

Lackey, Douglas P.

1986-01-01

Considers and rejects the hypothesis of Frackenheim, Wiesel and others that the Jewish Holocaust contains some qualitative or quantitatively distinct moral evil. It argues that the intentions and vices of mass murderers are qualitatively indistinguishable from those of the common murderer, and that the evils of six million individual murders are…

"Look, Each Side Says Something Different:" The Impact of Competing History Teaching Approaches on Jewish and Arab Adolescents' Discussions of the Jewish-Arab Conflict

ERIC Educational Resources Information Center

Goldberg, Tsafrir; Ron, Yiftach

2014-01-01

There is growing interest in the impact of Jewish and Arab historical narratives on intergroup relations and conflict. A randomized placement comparative study set out to examine it empirically. Conventional-Authoritative official narrative, Empathetic Dual narrative, and Critical-Disciplinary multiple-source teaching interventions were designed…

Use of complementary and alternative medicine by patients with lysosomal storage diseases.

PubMed

Balwani, Manisha; Fuerstman, Laura; Desnick, Robert J; Buckley, Brian; McGovern, Margaret M

2009-10-01

To evaluate the extent of complementary and alternative medicine use and perceived effectiveness in patients with lysosomal storage diseases. A 26-item survey was distributed to 495 patients with type 1 Gaucher, Fabry, and type B Niemann-Pick diseases who were seen at the Lysosomal Storage Disease Program at the Mount Sinai School of Medicine. Survey responses were entered into an access database and analyzed using descriptive statistics. Surveys were completed by 167 respondents with an overall response rate of 34%. Complementary and alternative medicines were used by 45% of patients with type 1 Gaucher disease, 41% of patients with Fabry disease, and 47% of patients with type B Niemann-Pick for symptoms related to their disease. Complementary and alternative medicines were used most frequently by adult females (55%), in patients who reported having one or more invasive procedures due to their disease, patients who use one or more conventional medical therapies, or those with depression and/or anxiety. Overall perceived effectiveness of complementary and alternative medicine supplements was low; however, complementary and alternative medicine therapies were perceived as effective. Complementary and alternative medicines are commonly used among patients with lysosomal storage diseases. Assessment of the effectiveness of these approaches in the lysosomal storage diseases is needed, and physicians should be aware of complementary and alternative medicine therapies used by patients to evaluate safety and possible drug interactions.

A man of his country and his time: Jewish influences on Lev Semionovich Vygotsky's world view.

PubMed

Kotik-Friedgut, Bella; Friedgut, Theodore H

2008-02-01

Lev Semionovich Vygotsky created the cultural-historical school of psychology, yet all too few of those writing about his work take into account the family, education, and cultural tradition from which he came. The authors contend that the Jewish nature of these elements was of some importance in forming his personality and his consciousness. The 1st part of the article traces his early upbringing, describes the Jewishness of his environment, notes 3 instances in which his "otherness" was imprinted on his consciousness, and points to the sources of his determination to forge a harmonious synthesis with his environment. The 2nd part examines his writings, both earlier journalistic and mature psychological, and points to evidence of the influence of his Jewish upbringing and environment on his work.

Barriers to cancer screening among Orthodox Jewish women.

PubMed

Tkatch, Rifky; Hudson, Janella; Katz, Anne; Berry-Bobovski, Lisa; Vichich, Jennifer; Eggly, Susan; Penner, Louis A; Albrecht, Terrance L

2014-12-01

The increased risk of genetic cancer mutations for Ashkenazi Jews is well known. However, little is known about the cancer-related health behaviors of a subset of Ashkenazi Jews, Orthodox Jews, who are a very religious and insular group. This study partnered with Rabbinical leadership and community members in an Orthodox Jewish community to investigate barriers to cancer screening in this community. Orthodox Jewish women were recruited to participate in focus groups designed to elicit their perspectives on barriers to cancer screening. A total of five focus groups were conducted, consisting of 3-5 members per group, stratified by age and family history of cancer. Focus groups were audio recorded and transcribed. Transcripts were coded using conventional content analysis. The resulting themes identified as barriers to cancer screening were: preservation of hidden miracles, fate, cost, competing priorities, lack of culturally relevant programming, lack of information, and fear. These results provide a unique perspective on barriers to cancer screening in a high risk but understudied population. Findings from this study may serve to inform culturally appropriate cancer education programs to overcome barriers to screening in this and other similar communities.

Public Health in the Vilna Ghetto as a Form of Jewish Resistance

PubMed Central

Beinfeld, Solon; Hildebrandt, Sabine; Glantz, Leonard; Grodin, Michael A.

2015-01-01

We describe the system of public health that evolved in the Vilna Ghetto as an illustrative example of Jewish innovation and achievement during the Holocaust. Furthermore, we argue that by cultivating a sophisticated system of public health, the ghetto inmates enacted a powerful form of Jewish resistance, directly thwarting the intention of the Nazis to eliminate the inhabitants by starvation, epidemic, and exposure. In doing so, we aim to highlight applicable lessons for the broader public health literature. We hope that this unique story may gain its rightful place in the history of public health as an insightful case study of creative and progressive solutions to universal health problems in one of the most challenging environments imaginable. PMID:25521892

Jewish Education, Past and Present: Israel Friedlaender Re-Visited

ERIC Educational Resources Information Center

Graff, Gil

2016-01-01

A century ago, Israel Friedlaender--scholar, communal activist, and educator--played a key role in such educational institutions as the Teachers Institute of JTS, the Bureau of Jewish Education, the Menorah Society, Young Israel, and Young Judea. A JTS professor and prolific writer, Friedlaender has been described as "the teacher of the…

Outer Limits of Biotechnologies: A Jewish Perspective

PubMed Central

Loike, John D.; Kadish, Alan

2018-01-01

A great deal of biomedical research focuses on new biotechnologies such as gene editing, stem cell biology, and reproductive medicine, which have created a scientific revolution. While the potential medical benefits of this research may be far-reaching, ethical issues related to non-medical applications of these technologies are demanding. We analyze, from a Jewish legal perspective, some of the ethical conundrums that society faces in pushing the outer limits in researching these new biotechnologies. PMID:29406847

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

PubMed Central

Edelmann, Lisa; Wasserstein, Melissa P.; Kornreich, Ruth; Sansaricq, Claude; Snyderman, Selma E.; Diaz, George A.

2001-01-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1β subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1β subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was ∼1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group. PMID:11509994

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PubMed

Edelmann, L; Wasserstein, M P; Kornreich, R; Sansaricq, C; Snyderman, S E; Diaz, G A

2001-10-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1beta subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was approximately 1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.

Jewish Holocaust Histories and the Work of Chronological Narratives

ERIC Educational Resources Information Center

Silverstein, Jordana

2012-01-01

This article examines the ways that, in Holocaust education in Jewish schools in Melbourne and New York at the beginning of the 21st century, knowledge of the Holocaust is transferred to students in chronological form. It begins by asking: What work do chronological narratives do within the Holocaust historical narratives offered within Jewish…

Inclusion Coordinators at Jewish Summer Camps: Roles and Challenges

ERIC Educational Resources Information Center

Shefter, Laura; Uhrman, Abigail L.; Tobin, Lisa; Kress, Jeffrey S.

2017-01-01

As appreciation of the impact of Jewish camping has grown, so have efforts to increase the number of campers able to participate in these settings. Inclusion of campers with disabilities, though not a new phenomenon, has likewise expanded. As more services are provided to campers with disabilities, more camps are hiring an Inclusion Coordinator to…

The Art of Living Together: Reducing Stereotyping and Prejudicial Attitudes through the Arab-Jewish Class Exchange Program (CEP)

ERIC Educational Resources Information Center

Berger, Rony; Abu-Raiya, Hisham; Gelkopf, Marc

2015-01-01

This study evaluated the efficacy of a newly developed Arab-Jewish Class Exchange Program (CEP) in reducing stereotyping and prejudicial attitudes between Israeli-Jewish and Israeli-Palestinian children. The CEP builds on the core principles of contact theory and is designed to help participants cultivate empathy and tolerance toward the other.…

Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.

PubMed

Kawasaki, Haruhisa; Suzuki, Takahiro; Ito, Kumpei; Takahara, Tsubasa; Goto-Inoue, Naoko; Setou, Mitsutoshi; Sakata, Kazuki; Ishida, Norio

2017-05-30

Gaucher's disease in humans is considered a deficiency of glucocerebrosidase (GlcCerase) that result in the accumulation of its substrate, glucocerebroside (GlcCer). Although mouse models of Gaucher's disease have been reported from several laboratories, these models are limited due to the perinatal lethality of GlcCerase gene. Here, we examined phenotypes of Drosophila melanogaster homologues genes of the human Gaucher's disease gene by using Minos insertion. One of two Minos insertion mutants to unknown function gene (CG31414) accumulates the hydroxy-GlcCer in whole body of Drosophila melanogaster. This mutant showed abnormal phenotypes of climbing ability and sleep, and short lifespan. These abnormal phenotypes are very similar to that of Gaucher's disease in human. In contrast, another Minos insertion mutant (CG31148) and its RNAi line did not show such severe phenotype as observed in CG31414 gene mutation. The data suggests that Drosophila CG31414 gene mutation might be useful for unraveling the molecular mechanism of Gaucher's disease. Copyright © 2017 Elsevier B.V. All rights reserved.

Delivering Bad News: An Approach According to Jewish Scriptures

PubMed Central

Naimer, Sody A.; Prero, Moshe

2014-01-01

Despite a preoccupation in the medical literature with developing an effective approach for breaking bad news, the sources are based on personal opinion alone and only in some instances on qualitative research. Recognizing the gravity of this topic coupled with respect for the wisdom of the written and oral Jewish scriptures, this work is an attempt to delve into the diverse ancient writings to draw conclusions regarding a recommended methodology to guide and inform this task. It is interesting to learn that most elements related to this topic have previously been raised in various forms in the scriptures. The issues range from where, when, and how the bearer of bad news should undertake this duty, to details such as the environment, the format, the speed, and depth of the details to be disclosed. The essence of this paper is to enrich the reader using both positive and negative examples found in the Jewish heritage. Adopting these principles will hopefully provide an effective method for performing this unpleasant obligation, with the goal of limiting harmful consequences as much as possible. PMID:25120920

Delivering bad news: an approach according to jewish scriptures.

PubMed

Naimer, Sody A; Prero, Moshe

2014-07-01

Despite a preoccupation in the medical literature with developing an effective approach for breaking bad news, the sources are based on personal opinion alone and only in some instances on qualitative research. Recognizing the gravity of this topic coupled with respect for the wisdom of the written and oral Jewish scriptures, this work is an attempt to delve into the diverse ancient writings to draw conclusions regarding a recommended methodology to guide and inform this task. It is interesting to learn that most elements related to this topic have previously been raised in various forms in the scriptures. The issues range from where, when, and how the bearer of bad news should undertake this duty, to details such as the environment, the format, the speed, and depth of the details to be disclosed. The essence of this paper is to enrich the reader using both positive and negative examples found in the Jewish heritage. Adopting these principles will hopefully provide an effective method for performing this unpleasant obligation, with the goal of limiting harmful consequences as much as possible.

Excoriation (skin-picking) disorder in adults: a cross-cultural survey of Israeli Jewish and Arab samples.

PubMed

Leibovici, Vera; Koran, Lorrin M; Murad, Sari; Siam, Ihab; Odlaug, Brian L; Mandelkorn, Uri; Feldman-Weisz, Vera; Keuthen, Nancy J

2015-04-01

We sought to estimate the lifetime prevalence of Excoriation (Skin-Picking) Disorder (SPD) in the Israeli adult population as a whole and compare SPD prevalence in the Jewish and Arab communities. We also explored demographic, medical and psychological correlates of SPD diagnosis. Questionnaires and scales screening for SPD, and assessing the severity of perceived stress, depression, obsessive-compulsive disorder (OCD), body dysmorphic disorder (BDD), alcohol use, illicit drug use, and medical disorders were completed in a sample of 2145 adults attending medical settings. The lifetime prevalence of SPD was 5.4% in the total sample; it did not differ between genders or within Jewish and Arab subsamples. Severity of depression (p<0.001), OCD (p<0.001) and perceived stress (p=<0.001) were greater in the SPD positive sample. Similarly, diagnoses of BDD (p=0.02) and generalized anxiety (p=0.03) were significantly more common in the SPD-positive respondents. Alcohol use and illicit substance use were significantly more common among SPD positive respondents in the total sample (both p's=0.01) and the Jewish subsample (p=0.03 and p=0.02, respectively). Hypothyroidism was more prevalent in the SPD-positive Jewish subsample (p=0.02). In the total sample, diabetes mellitus was more common in women than in men (p=0.04). Lifetime SPD appears to be relatively common in Israeli adults and associated with other mental disorders. Differences in the self-reported medical and psychiatric comorbidities between the Jewish and Arab subsamples suggest the possibility of cross-cultural variation in the correlates of this disorder. Copyright © 2014 Elsevier Inc. All rights reserved.

Clinical profile of breast cancer in Arab and Jewish women in the Jerusalem area.

PubMed

Nissan, Aviram; Spira, Ram M; Hamburger, Tamar; Badrriyah, Mahmud; Prus, Diana; Cohen, Tzeela; Hubert, Ayala; Freund, Herbert R; Peretz, Tamar

2004-07-01

The clinical profile of breast cancer may vary among different ethnic groups living in the same country and therefore affect the yield of a breast cancer screening program. The present study attempts to better characterize the breast cancer clinical profile of Arab women compared with Jewish women in the greater Jerusalem area with a future aim of establishing a comprehensive and effective screening program for this population. Retrospective chart review was conducted and the following covariates were correlated with survival: ethnicity, age at diagnosis, and American Joint Committee on Cancer (TNM) stage at diagnosis. A total of 312 women were operated on for breast cancer between 1994 and 1999; 51% were Ashkenazi Jews (AJ), 26% were Sephardic Jews (SJ), 21% were Palestinian Arabs (PA), and 2% patients did not fit into those ethnic groups. The mean age at diagnosis was 51.5 years for the PA group, 53.4 +/- 1.5 for the SJ group, and 55.9 years for the AJ group (P <0.03 PA versus AJ). The tumor size (mean +/- SEM) was 38.8 +/- 3.7 mm, 31.1 +/- 2.4 mm, and 24.5 +/- 1.6 mm for the PA, SJ, and AJ groups, respectively (P = 0.03 for PA versus SJ and P <0.001 for PA versus AJ). Five-year overall survival was 77 %, 72%, and 58% for the AJ, SJ, and PA groups, respectively (P = 0.02); and 5-year disease-free survival was 72%, 51%, and 50% for the AJ, SJ, and PA groups, respectively (P = 0.03, AJ versus SJ). Our data demonstrate younger age and larger primary tumor size for the Arab patients compared with the Jewish patients. These findings were associated with lower 5-year survival and disease-free survival of the Arab patients.

Leadership for Equity and Social Justice in Arab and Jewish Schools in Israel: Leadership Trajectories and Pedagogical Praxis

ERIC Educational Resources Information Center

Arar, Khalid Husny

2015-01-01

The research investigated how principals in Israel's Jewish and Arab school systems perceive and practice their role in promoting equitable education to bridge socio-economic and pedagogic gaps. It asked how Jewish and Arab principals understand the concept of social justice and what they do in order to promote social justice reality in their…

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PubMed

Frey, Melissa K; Sandler, Gabriella; Sobolev, Rachel; Kim, Sarah H; Chambers, Rachelle; Bassett, Rebecca Y; Martineau, Jessica; Sapra, Katherine J; Boyd, Leslie; Curtin, John P; Pothuri, Bhavana; Blank, Stephanie V

2017-07-01

To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines. Four hundred and fifty-four patients underwent multigene panel screening, including 138 Ashkenazi Jewish patients. The median patient age was fifty-two years. Three hundred and fifty-four patients (78%) had a personal history of cancer. Two hundred and fifty-one patients had breast cancer, 49, ovarian cancer, 26, uterine cancer and 20, colorectal cancer. We identified 62 mutations in 56 patients and 291 variants of uncertain significance in 196 patients. Among the 56 patients with mutations, 51 (91%) had actionable mutations. Twenty mutations were identified by multigene panels among Ashkenazi Jewish patients, 18 of which were in genes other than BRCA1/2. A review of targeted BRCA1/2 testing performed over the same study period included 103 patients and identified six mutations in BRCA1/2, all of which occurred in Ashkenazi Jewish patients. Among all Ashkenazi Jewish patients undergoing genetic testing, 25/183 (14%) had a mutation, 24/25 of which were actionable (96%) and 17/25 patients (68%) had mutations in non BRCA1/2 genes. With the rapid acceptance of multigene panels there is a pressing need to understand how this testing will affect patient management. While traditionally many Ashkenazi Jewish patients have undergone targeted BRCA1/2 testing, our data suggest consideration of multigene panels in this population as the majority of the results are clinically actionable and often in genes other than BRCA1/2. Copyright © 2017 Elsevier Inc. All rights

[Considerations relating to the body in the Jewish religion].

PubMed

Lévy, Michel

In the Jewish religion, the body is the receptacle of the soul, and both are connected. Created in God's image, the body must be respected by the caregiver and by the patient. Judaism imposes constraints, but these restrictions must be lifted if a person's life is in danger. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

[Self endangerment to save life--competing Jewish legal and moral obligations].

PubMed

Gesundheit, Benjamin; Zlotnick, Eitan; Wygoda, Michael; Rosenzweig, Joshua P; Steinberg, Avraham

2014-11-01

The obligation to help others often involves personal risk. Consequently, the scope and boundaries of this obligation can present a complex dilemma, which has practical and moral implications, even in the world of medicine. In Jewish medical ethics, the dilemma stems from a confrontation between the duty to help others according to the biblical commandment: "Do not stand idly by your fellow's blood" on the one hand, and between the right and duty of man to defend himself, which is anchored in Jewish law. This article surveys the sources of this quandary in Jewish texts throughout the ages such as the Bible, Mishnah, Talmud, and responsa literature in various contexts. The discussion highlights the essential difference between the formal demands of the law, which protects human rights of self-preservation, and the moral requirement to help others even if it may include personal risk. The sources suggest distinguishing between various levels of risk ranging from high-risk to reasonable or low risk. In this way, the classic sources, provide the foundation and the tools for grappling with modern contemporary Halachic questions such as organ transplantation, and generate a Torah value-based framework to deal with new situations that may arise in the future. It is critical to assess the level of risk and the chances for success, along with other subjective considerations, in order to ensure the optimal ethical course of action.

Parenting Style as a Moderator of Effects of Political Violence: Cross-Cultural Comparison of Israeli Jewish and Arab Children

ERIC Educational Resources Information Center

Slone, Michelle; Shechner, Tomer; Farah, Oula Khoury

2012-01-01

This study examined cross-cultural differences in the moderating function of authoritarian, authoritative, and permissive parenting styles for Jewish and Arab Israeli children exposed to political violence. Respondents were parents and children aged 10-11 from 94 families (42 Arab, 52 Jewish). Parents completed the Parenting Styles and Dimensions…

Gaucher Disease

MedlinePlus

... the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung ... type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts ...

Evidence for a founder effect for the IVS4 +4 A{r_arrow}T mutation in the Fanconi anemia gene FACC in a Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Verlander, P.C.; Kaporis, A.G.; Qian, L.

1994-09-01

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disorder defined by hypersensitivity of cells to DNA cross-linking agents; a gene for complementation group C(FACC) has been cloned. Two common mutations, IVS4 +4 A{r_arrow}T and 322delG, and several rare mutations have recently been reported in affected individuals. We now report the development of amplification refractory mutation system (ARMS) assays for rapid, non-radioactive detection of these known mutations in FACC. Primer pairs specific for variant sequences were designed, with the 3{prime} terminal base of one primer matching the variant base. PCR products are separated by electrophoresis on 2.5% agarose gels; mutationsmore » are indicated by the presence of a band of a specific size. These ARMS assays can be multiplexed to allow screening for all known mutations in two PCR reactions. We have used these assays for detection of FACC mutations in affected individuals in the International Fanconi Anemia Registry (IFAR), and for carrier detection FACC families. IVS4 +4 A{r_arrow}T is the only FACC mutation found in Jewish FA patients and their families, of both Ashkenazi and Sephardic ancestry. This mutation was not found in any affected individual of non-Jewish origin. In addition, DNA samples from 1596 healthy Jewish individuals primarily of Ashkenazi ancestry were supplied to us by Dor Yeshorim. These samples, ascertained for carrier screening for Tay Sachs, cystic fibrosis, and other genetic diseases with a high frequency in the religious Jewish community served by this organization, were tested for both IVS4 +4 A{r_arrow}T and 322delG mutations; seventeen IVS4 +4 A{r_arrow}T are of Sephardic Jewish ancestry. We hypothesize that IVS4 +4 A{r_arrow}T is a very old mutation, predating the divergence of the Ashkenazi and Sephardic populations. Haplotype analysis with microsatellite markers is in progress.« less

Tradition versus Egalitarianism in the Thinking of Jewish-American Adolescents

ERIC Educational Resources Information Center

Charme, Stuart Z.

2009-01-01

This article describes results from interviews with Jewish teenagers about the tension between adherence to tradition and commitment to egalitarianism in relation to issues like women in the rabbinate, women wearing ritual garments like "kipot" and "talitot", and gender separation at the Western Wall in Jerusalem. For many…

Discovering Jewish Studies Collections in Academic Libraries: A Practical Guide

ERIC Educational Resources Information Center

Taler, Izabella

2014-01-01

The U.S. colleges and universities offering non-sectarian educational programs in Jewish Studies rely on the support of their academic libraries for research materials and library services. For college libraries which use Library of Congress Classification scheme, it is a common practice to integrate "studies" resources into their…

Inflammatory bowel disease associations with HLA Class II genes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Castro, R.; Yang, H.; Targan, S.

1994-09-01

A PCR-SSOP assay has been used to analyze HLA-Class II DRB1 and DQB1 alleles in 378 Caucasians from a population in Southern California. The data has been analyzed separately for the Ashkenasi Jews and non-Jewish patients (n=286) and controls (n=92). Two common clinical forms of inflammatory bowel disease (IBD) have been studied: ulcerative colitis (UC) and Crohn`s disease (CD). In CD, we observed a susceptible effect with the rare DR1 allele - DRB*0103 [O.R.=4.56; 95% CI (0.96, 42.97); p=0.03]; a trend for an increase in DRB1*0103 was also observed in UC patients. A susceptible effect with DRB1*1502 [O.R.=5.20; 95% CImore » (1.10, 48.99); p=0.02] was observed in non-Jewish UC patients. This susceptible effect was restricted to UC ANCA-positive (antineutrophil cytoplasmic antibodies) patients. In addition, a significant association with DRB1*1101-DQB1*0301 [O.R.=9.46; 95% CI (1.30, 413.87); p=0.01] was seen with UC among non-Jewish patients: this haplotype was increased with CD among non-Jewish patients. Two protective haplotypes were detected among CD non-Jewish patients: DRB1*1301-DQB1*0603 [O.R.=0.34; 95% CI (0.09, 1.09); p=0.04], and DRB*0404-DQB1*0302 [O.R.=<0.08; 95% CI (0.0, 0.84); p=0.01]. When the same data were analyzed at the serology level, we observed a positive association in UC with DR2 [O.R.6.77; 95% CI (2.47, 22.95); p=2 x 10{sup -4}], and a positive association in CD with DR1 [O.R.=2.63; 95% CI (1.14, 6.62); p=0.01] consistent with previous reports. Thus, some IBD disease associations appear to be common to both UC and CD, while some are unique to one disease.« less

Appreciative Attitudes toward Jews among Non-Jewish US College Students

ERIC Educational Resources Information Center

Mayhew, Matthew J.; Bowman, Nicholas A.; Rockenbach, Alyssa N.; Selznick, Benjamin; Riggers-Piehll, Tiffani

2018-01-01

The purpose of this study was to examine appreciative attitudes toward Jews--a historically marginalized and targeted worldview identity group in the context of American higher education--among non-Jewish undergraduates. Drawing from a sample of 13,489 students across 52 institutions and using a multilevel modeling approach, we found that…

The Effects of Denomination on Religious Socialization for Jewish Youth

ERIC Educational Resources Information Center

James, Anthony G.; Lester, Ashlie M.; Brooks, Greg

2014-01-01

The transmission model of religious socialization was tested using a sample of American Jewish parents and adolescents. The authors expected that measures of religiousness among parents would be associated with those among their children. Interaction effects of denominational membership were also tested. Data were collected from a sample of 233…

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model.

PubMed

Balreira, Andrea; Lacerda, Lúcia; Miranda, Clara Sá; Arosa, Fernando A

2005-06-01

Gaucher disease (GD) is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase (GluCerase) that leads to glucosylceramide (GluCer) accumulation. We previously demonstrated the existence of imbalances in certain lymphocyte populations in GD patients. We now show that GluCerase-deficient monocytes from GD patients or monocytes from healthy subjects treated with conduritol-B-epoxide (CBE), an irreversible inhibitor of GluCerase activity, display high levels of surface expression of the lipid-binding molecule CD1d. GluCerase-deficient monocytes from GD patients also showed increased surface expression of major histocompatibility complex (MHC)-class II, but not of other lysosomal trafficking molecules, such as CD63 and MHC-class I. However, CD1d and MHC-class II mRNA levels were not increased. GluCerase-deficient monocytes from GD patients undergoing enzyme replacement therapy also exhibited increased levels of CD1d and MHC-class II and imbalances in the percentage of CD4+, CD8+, and Valpha24+ T cells. Interestingly, follow-up studies revealed that enzyme replacement therapy induced a decrease in MHC-class II expression and partial correction of the CD4+ T cell imbalances. These results reveal a new link between sphingolipid accumulation in monocytes and the expression of certain MHC molecules that may result in imbalances of regulatory T cell subsets. These immunological anomalies may contribute to the clinical heterogeneity in GD patients.

Social Inclusion of Children With Down Syndrome: Jewish and Muslim Mothers' Knowledge, Attitudes, Beliefs, and Behavioral Intentions.

PubMed

Barnoy, Sivia; Biton, Anna; Itzhaki, Michal

The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers. Nearly all the Jewish mothers (93.7%) and about half the Muslim mothers (52.8%) had performed screening tests for DS during their pregnancy. All mothers displayed low knowledge level about DS. Being Jewish (t=2.89; p=0.005) and holding more positive beliefs (t=3.39; p=0.001) were associated with a higher intention to socially integrate children with DS. Significant positive correlations were found between beliefs and attitudes (r=0.65; p<0.001) and between attitudes and intention to socially integrate children with DS (r=0.39; p<0.001). This study shows that Jewish and Muslim mothers' beliefs and attitudes towards social inclusion of children with DS are quite positive and the intention to integrate children with DS in the family, with children without disabilities, and in the mainstream school system is high. However, their level of knowledge about DS is low. Nurses, as a critical source of information about DS, should develop an ethno-cultural sensitivity to diverse populations in order to influence attitudes and beliefs regarding the social integration of children with DS. Copyright © 2017 Elsevier Inc. All rights reserved.

Identity and Inter Religious Understanding in Jewish Schools in England

ERIC Educational Resources Information Center

Ipgrave, Julia

2016-01-01

This article sets up a dialogue between "auto"-referential (looking to self) and "allo"-referential (looking to the other) approaches to religious difference and applies these to education for inter religious understanding in Jewish schools. It begins by arguing that the multiculturalism of the 1980s and 1990s set up a duality…

Patriotism and Parochialism: Why Teach American Jewish History, and How?

ERIC Educational Resources Information Center

Levisohn, Jon A.

2004-01-01

In this article, the author focuses on these questions: why is American Jewish history worthy of being "taught"? And what purpose should such teaching serve? Philosophical questions such as these are important because topics of study are not self-justifying, and asking the questions--questions that must be pursued through conceptual inquiry,…

Delinquent activity among Jewish and Arab junior and senior high school students in Israel.

PubMed

Sherer, Moshe

2009-10-01

This study compares the criminal activities of male and female Jewish and Arab junior and senior high school students in Israel based on self-reported criminal activities. The sample consisted of 906 randomly selected junior and senior high school students. The findings indicate that Jewish students committed more types of delinquent acts when compared with their Arab counterparts; males committed more delinquent acts than females; and Arab females had very low rates of delinquency. The findings are discussed in light of possible influences of cultural and ethnic origin and knowledge about possible discrimination against Arab juveniles by the Israeli criminal justice system. Theoretical and practical implications of the results are suggested.

The historical archaeology of the 17th- and 18th-century Jewish community of Nevis, British West Indies

NASA Astrophysics Data System (ADS)

Terrell, Michelle M.

2000-11-01

This is an historical archaeological examination of a 17th- and 18th-century Jewish community on the island of Nevis in the British West Indies. Unlike earlier archaeological studies of the Jewish Caribbean Diaspora that focused on single sites, this investigation used a community-wide approach to elucidate the daily experience of Sephardic Jews within the colonial Caribbean. This project included an archaeological excavation at the purported location of the community's synagogue, an electrical resistivity survey of the surviving cemetery, the construction of a map of property ownership in 18th-century Charlestown, and archival research. This study was carded out within a multiscalar and contextual framework that emphasized the importance of understanding the diaspora that brought the Jews to the West Indies, the development of the colonial Caribbean, and the surrounding environs of the port city of Charlestown, Nevis. The archaeological analysis of the supposed site of the synagogue proved that it was in fact that of a late 18th-century townhouse, but the associated land record research revealed the actual location of the community's former synagogue. Furthermore, the reconstruction of the physical layout of colonial-period Charlestown from the land records indicated the presence of a distinct Jewish quarter in the undesirable southern portion of the town. Evidence from the public records of Nevis and the social history of the members of the Jewish population unveiled external social and political pressures placed upon the Sephardim as well as internal religious and ethnic ties dig bound the community together. It is argued in closing that the archival evidence, in conjunction with the continued presence of a clustered settlement pattern like that of European Jewish communities during the medieval period, indicates that the Jews of the Caribbean were not fully integrated socially or politically into British colonial society. This examination of the Nevis community

[New therapies for children affected by bone diseases].

PubMed

Ballhausen, Diana; Dépraz, Nuria Garcia; Kern, Ilse; Unger, Sheila; Bonafé, Luisa

2012-02-22

Considerable progress has been achieved in recent years in treating children affected by bone diseases. Advances in the understanding of the molecular pathophysiology of genetic bone diseases have led to the development of enzyme replacement therapies for various lysosomal storage diseases, following the breakthrough initiated in treating Gaucher disease. Clinical studies are underway with tailored molecules correcting bone fragility and alleviating chronic bone pain and other manifestations of hypophosphatasia, or promoting growth of long bones in achondroplasia patients. We further report our very encouraging experience with intravenous bisphosphonate treatment in children suffering from secondary osteopenia and the high prevalence of calcium and vitamin D deficits in these severely disabled children.

Effect of ethnic origin and gender on the clinical manifestations of myasthenia gravis among the Jewish population in Israel.

PubMed

Asmail, Ali; Kesler, Anat; Drory, Vivian E; Kolb, Hadar; Karni, Arnon

2017-06-15

Reports on patients with myasthenia gravis (MG) of different ethnic origins demonstrated differences in weakness distribution and serological results. We studied MG characteristics in a cohort of Ashkenazi (ASH) and non-Ashkenazi (NASH) Jewish origin according to their ethnic origins and gender. The frequency of age of MG onset was distributed in a bi-modal fashion in the female patients and increased gradually over time, with a peak around 70years of age in the male patients. Ocular MG was more frequent in males and ASH patients. Unlike previous reports, our male patients had a higher proportion of positive serum anti-acetyl choline receptor (AChR) than female patients, with no ethnic-based differences in the rates of anti-AChR or anti-muscle specific kinase. Comorbidity with another autoimmune disease was more frequent among female patients with late-onset MG and NASH patients (mainly Israel-born). Male MG patients tended to have more malignant comorbidities than female MG patients. These results demonstrate the effect of ethnicity on clinical aspects of MG within the Jewish population in Israel, and reveal novel effects of gender-associated comorbidities in patients with MG. Copyright © 2017. Published by Elsevier B.V.

The Origins of Jewish Guilt: Psychological, Theological, and Cultural Perspectives

PubMed Central

2013-01-01

The idea that guilt and Judaism are closely interlinked has a long historical legacy. After discussing recent work on anthropology and emotion focusing on shame and guilt, we examine three theories purporting to account for this link: psychoanalytic, theological, and guilt as a cultural stereotype particularly the notion of the Jewish mother. PMID:26425245

Multiple Identities of Jewish Immigrant Adolescents from the Former Soviet Union: An Exploration of Salience and Impact of Ethnic Identity

ERIC Educational Resources Information Center

Birman, Dina; Persky, Irena; Chan, Wing Yi

2010-01-01

The current paper explores the salience and impact of ethnic and national identities for immigrants that are negotiating more than two cultures. Specifically, we were interested in the ways in which Jewish immigrant adolescents from the former Soviet Union integrate their Russian, Jewish, and American identities, and to what extent identification…

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives.

PubMed

Pras, E; Kochba, I; Lubetzky, A; Pras, M; Sidi, Y; Kastner, D L

1998-11-02

Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.

Lysosomal storage diseases: natural history and ethical and economic aspects.

PubMed

Beutler, Ernest

2006-07-01

Potential treatment for lysosomal diseases now includes enzyme replacement therapy, substrate reduction therapy, and chaperone therapy. The first two of these have been implemented commercially, and the spectrum of diseases that are now treatable has expanded from Gaucher disease to include several other disorders. Treatment of these diseases is extremely costly. We explore some of the reasons for the high cost and discuss how, by proper selection of patients and appropriate dosing, the economic burden on society of treating these disease may be ameliorated, at least in part. However, the cost of treating rare diseases is a growing problem that society needs to address.

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.

PubMed

Pastores, Gregory M; Petakov, Milan; Giraldo, Pilar; Rosenbaum, Hanna; Szer, Jeffrey; Deegan, Patrick B; Amato, Dominick J; Mengel, Eugen; Tan, Ee Shien; Chertkoff, Raul; Brill-Almon, Einat; Zimran, Ari

2014-12-01

Taliglucerase alfa is a β-glucosidase enzyme replacement therapy (ERT) approved in the US and other countries for the treatment of Gaucher disease (GD) in adults and is approved in pediatric and adult patients in Australia and Canada. It is the first approved plant cell-expressed recombinant human protein. A Phase 3, multicenter, open-label, 9-month study assessed safety and efficacy of switching to taliglucerase alfa in adult and pediatric patients with GD treated with imiglucerase for at least the previous 2years. Patients with stable disease were offered taliglucerase alfa treatment using the same dose (9-60U/kg body weight) and regimen of administration (every 2weeks) as imiglucerase. This report summarizes results from 26 adult and 5 pediatric patients who participated in the trial. Disease parameters (spleen and liver volumes, hemoglobin concentration, platelet count, and biomarker levels) remained stable through 9months of treatment in adults and children following the switch from imiglucerase. All treatment-related adverse events were mild or moderate in severity and transient in nature. Exploratory parameters of linear growth and development showed positive outcomes in pediatric patients. These findings provide evidence of the efficacy and safety profile of taliglucerase alfa as an ERT for GD in patients previously treated with imiglucerase. This trial was registered at www.clinicaltrials.gov as # NCT00712348. Copyright © 2014 Elsevier Inc. All rights reserved.

Research and Reflections on the Spiritual Development of Young Jewish Children

ERIC Educational Resources Information Center

Schein, Deborah L.

2013-01-01

This article is about spiritual development for early childhood Jewish education. Findings from a research study defines the spiritual development of young children as an integration of deep connections, basic dispositions (strengthened from experiences of wonderment, awe, joy, inner peace), and complex dispositions (displayed through acts of…

Seeing Diversity in Difference: Experiences in an Ultra-Orthodox Jewish College.

ERIC Educational Resources Information Center

Starr-Glass, David; Schwartzbaum, Avraham

2002-01-01

Reviews organizational and administrative history of Ultra-Orthodox Jewish College in Jerusalem, Israel, that leads to an institutional structure that supports distinctiveness. Examines influence of ultra-Orthodox communities in Jerusalem on the academic quality and distinctiveness of the college. Uses perspective of social construct theory to…

Networked but No System: Educational Innovation among Bay Area Jewish Organizations

ERIC Educational Resources Information Center

Rubin Ross, Renee

2017-01-01

A widely read article from this journal explores innovative Jewish educational programs, initiatives, and organizations, arguing that these share a comdmitment to being "learner-centered" and recommending that a system be created to foster collaboration among them (Woocher, 2012). Using five San Francisco Bay Area-based…

Gender identity, nationalism, and social action among Jewish and Arab women in Israel: redefining the social order?

PubMed

Moore, D

2000-01-01

In the study this article explores, the meaning of gender identity for religious and secular Jewish and Arab women in Israeli society is examined. The study focuses on how Israeli women, rank gender identity, relative to other identities like being Jewish/Arab, being Israeli/Palestinian, religious or secular, of a certain ethnic group, and political identity. It examines the characteristics of gender identity and the attitudes that are associated with it. The analysis shows that the hierarchies of identities are different for religious and secular Jewish and Arab women, and that this is related to having different sociopolitical attitudes (e.g., Women's social and political involvement, social obedience, social influence). Thus, the hierarchy of identities and the sociopolitical attitudes of religious women indicate a more consensual acceptance of the social order than the hierarchy of identities and the sociopolitical attitudes of secular women, especially among Arab women.

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

PubMed

Fedick, A M; Shi, L; Jalas, C; Treff, N R; Ekstein, J; Kornreich, R; Edelmann, L; Mehta, L; Savage, S A

2015-08-01

Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC. Germline mutations in the RTEL1 gene have recently been identified as causative of HH. In this study, the carrier frequency for five RTEL1 mutations that occurred in individuals of Ashkenazi Jewish descent was investigated in order to advise on including them in existing clinical mutation panels for this population. Our screening showed that the carrier frequency for c.3791G>A (p.R1264H) was higher than expected, 1% in the Ashkenazi Orthodox and 0.45% in the general Ashkenazi Jewish population. Haplotype analyses suggested the presence of a common founder. We recommend that the c.3791G>A RTEL1 mutation be considered for inclusion in carrier screening panels in the Ashkenazi population. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

'We are (not) the master of our body': elderly Jewish women's attitudes towards euthanasia and assisted suicide.

PubMed

Baeke, Goedele; Wils, Jean-Pierre; Broeckaert, Bert

2011-06-01

In Belgium, dominant ideological traditions--Christianity and non-religious humanism--have the floor in debates on euthanasia and hardly any attention is paid to the practices and attitudes of ethnic and religious minorities, for instance, Jews. This article aims to meet this lacuna. Qualitative empirical research was performed in the Orthodox Jewish community of Antwerp (Belgium) with a purposive sample of elderly Jewish (non-)Hasidic and secularised Orthodox women. In-depth interviews were conducted to elicit their attitudes towards (non-)voluntary euthanasia and assisted suicide. The research reveals diverse views among women in the community on intentionally terminating a patient's life. Absolute rejection of every act which deliberately terminates life is found among the overwhelming majority of (religiously observant) Orthodox (Hasidic and non-Hasidic) women, as they have an unconditional faith and trust in God's sovereign power over the domain of life and death. On the other hand, the views of secularised Orthodox women--mostly irreligious women, who do not consider themselves Orthodox, thus not following Jewish law, yet say they belong to the Orthodox Jewish community--show an acceptance of voluntary euthanasia and assisted suicide but non-voluntary euthanasia is approached more negatively. As they perceive illness and death as merely profane facts, they stress a patient's absolute right towards self-determination, in particular with regard to one's end of life. Among non-Hasidic Orthodox respondents, more openness is found for cultivating a personal opinion which deviates from Jewish law and for the right of self-determination with regard to questions concerning life and death. In this study, these participants occupy an intermediate position. Our study reveals an interplay between ethical attitudes on euthanasia and religious convictions. The image one has of a transcendental reality, or of God, has a stronger effect on one's (dis)approval of euthanasia

Holocaust Education in Jewish Schools in Israel: Goals, Dilemmas, Challenges

ERIC Educational Resources Information Center

Gross, Zehavit

2010-01-01

Research has shown the Holocaust to be the primary component of Jewish identity (Farago in Yahadut Zmanenu 5:259-285, 1989; Gross in Influence of the trip to Poland within the framework of the Ministry of Education on the working through of the Holocaust. Unpublished M.A. thesis, Ben-Gurion University, Beer Sheva, 2000; "Herman in Jewish…

Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.

PubMed

Igci, Nasit; Sharafi, Parisa; Demiralp, Duygu Ozel; Demiralp, Cemil Ozerk; Yuce, Aysel; Emre, Serap Dokmeci

2017-10-01

Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined. Also, the secondary structure ratios of proteins can be determined by analysing the amide peaks. The primary aim of this study is to introduce FTIR-ATR spectroscopy technique to GD research for the first time in the literature and to assess its potential as a new molecular method. Primary fibroblast cell cultures obtained from biopsy samples were used, since this material is widely used for the diagnosis of GD. Intact cells were placed onto a FTIR-ATR crystal and dried by purging nitrogen gas. Spectra were recorded in the mid-infrared region between 4500-850 cm-1 wavenumbers. Each peak in the spectra was assigned to as organic biomolecules according to their chemical bond information. A quantitative analysis was performed using peak areas and we also used a hierarchical cluster analysis as a multivariate spectral analysis. We obtained FTIR spectra of fibroblast samples and assigned the biomolecule origins of the peaks. We observed individual heterogeneity in FTIR spectra of GD fibroblast samples, confirming the well-known phenotypic heterogeneity in GD at the molecular level. Significant alterations in protein, lipid and carbohydrate levels related to the enzyme replacement therapy were also observed, which is also supported by cluster analysis. Our results showed that the application of FTIR spectroscopy to GD research deserves more attention and detailed studies with an increased sample size in order to evaluate its

Teachers' Perception of School Climate in Independent Jewish Day Schools in Relation to Change and Transition of Leadership Personnel

ERIC Educational Resources Information Center

Knafo, Sharon

2012-01-01

This study examined the relationship between turnover of school leadership personnel and school climate as perceived by teachers. The study focused on Jewish day schools in the United States in different cities and states. Fifty Jewish day schools (ranging from preschool age to high school) participated in the study with 200 teachers from these…

Research Resources for the Study of African-American and Jewish Relations.

ERIC Educational Resources Information Center

Gubert, Betty Kaplan

1994-01-01

Discusses New York City library resources for the study of African American and Jewish American relations. Highlights include library collections, access to materials, audio and visual materials, international newspapers, clippings, archives, children's books, and acquisitions. A list of the major libraries for the study of African American and…

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

PubMed Central

Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

2015-01-01

BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

Childhood sexual abuse, mental health, and religion across the Jewish community.

PubMed

Rosmarin, David H; Pirutinsky, Steven; Appel, Moses; Kaplan, Talia; Pelcovitz, David

2018-04-23

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 = 0.53). All Jewish religious groups reported equivalent levels of sexual abuse, except that history of involuntary penetration was greater among formerly (but not presently) Orthodox Jews (OR = 3.00). Across our sample, sexual abuse was associated with increased likelihood of psychiatric diagnosis (OR = 1.34), greater mental distress (F ranging from 2.99 to 9.08, p < .05 for all analyses), lower religious observance (F = 4.53, p = .03), and lower intrinsic religiosity (F = 4.85, p = .03). Further, across our sample we observed a moderate buffering effect of spiritual/religious factors against mental distress (ΔR 2 values ranging from 0.028 to 0.045, p <.01 for all analyses). Thus, we found childhood sexual abuse to occur across the spectrum of Jewish religious affiliation and greater prevalence among formerly Orthodox individuals. Furthermore, history of childhood sexual abuse was associated with greater risk for psychiatric distress and less religious involvement, however spiritual/religious engagement and belief appeared to facilitate resilience in the context of abuse. Copyright © 2018 Elsevier Ltd. All rights reserved.

Pupil size in Jewish theological seminary students.

PubMed

Shemesh, G; Kesler, A; Lazar, M; Rothkoff, L

2004-01-01

To investigate the authors' clinical impression that pupil size among myopic Jewish theological seminary students is different from pupil size of similar secular subjects. This cross-sectional study was conducted on 28 male Jewish theological seminary students and 28 secular students or workers who were matched for age and refraction. All participants were consecutively enrolled. Scotopic and photopic pupil size was measured by means of a Colvard pupillometer. Comparisons of various parameters between the groups were performed using the two-sample t-test, Fisher exact test, a paired-sample t-test, a two-way analysis of variance, and Pearson correlation coefficients as appropriate. The two groups were statistically matched for age, refraction, and visual acuity. The seminary students were undercorrected by an average of 2.35 diopters (D), while the secular subjects were undercorrected by only 0.65 D (p<0.01). The average pupil size was larger in the religious group under both scotopic and photopic luminance. This difference was maintained when the two groups were compared according to iris color under both conditions, reaching a level of statistical significance (p<0.0001). There was a significant difference in photopic pupil size between dark and light irises (p=0.049), but this difference was not maintained under scotopic conditions. The average pupil size of young ultraorthodox seminary students was significantly larger than that of matched secular subjects. Whether this is the result of intensive close-up work or of apparently characteristic undercorrection of the myopia is undetermined.

Symptoms of acute stress in Jewish and Arab Israeli citizens during the Second Lebanon War.

PubMed

Yahav, Rivka; Cohen, Miri

2007-10-01

The "Second Lebanon War" exposed northern Israel to massive missile attacks, aimed at civilian centers, Jewish and Arab, for a period of several weeks. To assess prevalence of acute stress disorder (ASD) and acute stress symptoms (ASS) in Jewish and Arab samples, and their correlates with demographic and exposure variables. Telephone survey conducted in the third week of the second Lebanon war with a random sample of 133 Jewish and 66 Arab adult residents of northern Israel. ASD, ASS and symptoms-related impairment were measured by the Acute Stress Disorder Interview (ASDI) questionnaire, in addition to war-related exposure and demographic data. The majority of respondents experienced at least one of four symptom groups of ASD, 5.5% of the Jewish respondents and 20.3% of the Arabs met the criteria of ASD. Higher rates of Arab respondents reported symptoms of dissociation, reexperiencing and arousal, but a similar rate of avoidance was reported by the two samples. Higher mean scores of ASS and of symptoms-related impairment were reported by the Arab respondents. According to multiple regression analyses, younger age, female gender, Arab ethnicity and experiencing the war more intensely as a stressor significantly explained ASS variance, while Arab ethnicity and proximity to missiles exploding significantly explained the variance of symptoms-related impairment. A substantial rate of participants experienced symptoms of acute stress, while for only small proportion were the symptoms consistent with ASD. Higher ASD and ASS were reported by the Arab sample, calling attention to the need to build interventions to reduce the present symptoms and to help prepare for possible similar situations in the future.

Truth-Telling in the UK Jewish Studies Classroom for Orthodox Educators

ERIC Educational Resources Information Center

Burman, Chaim

2017-01-01

UK Orthodox Jewish educators face a number of ethical dilemmas surrounding truth-telling in the classroom. While they must comply with government legislation and high standards of professional conduct, they may also wish their practice to be informed by halachic considerations. This theoretical study explores the potential tensions that may arise…

Ethnic Variations in Family Power Relations: Part I--Jewish American Families.

ERIC Educational Resources Information Center

Victor, Jeffrey S.

Roles in the Jewish-American family system tend to be flexible, without a clearly defined division of labor or hierarchy of authority. Husband-father and wife-mother roles tend to be somewhat interchangeable and androgynous. Because role expectations constantly change to fit changing circumstances, ambiguity in each member's perception of…

The beginning of human life : status of embryo. Perspectives in Halakha (Jewish Religious Law).

PubMed

Schenker, Joseph G

2008-06-01

The Jewish religion is characterized by a strict association between faith and practical precept. Jewish law has two sections, the written and the oral tradition. The foundation of the written law and the origin of authority is the Torah, the first five books of the Scripture. It is an expression of God's revelation, teaching and guiding humanity. The oral laws interpret, expand, and elucidate the written Torah and behavior patterns regulate new rules and customs. The main parts of the oral law are as follows: the Mishnah, the Talmud, Post-Talmudic Codes and. Responsa Literature. Life is a process that has a beginning and an end. The consensus about the time when human life really begins is still not reached among scientists, philosophers, ethicists, sociologists and theologizes. The scientific data suggested that a single developmental moment marking the beginning of human life does not exist. Current biological perspectives on when human life begins range through fertilization, gastrulation, to birth and even after. The development of a newborn is a smoothly continuous process. Procreation is acknowledged in the Bible to be the gift of God. The (Halachic) Jewish interpretation of when human life begins is extracted predominantly from procreation is acknowledged in the Bible to be the gift of God. The Jewish interpretation of when human life begins is extracted predominantly from The Halachic sources. The Bible does not make any other direct references regarding the beginning of human life. While the Talmud gives the full status of humanness to a child at birth, the rabbinical writings have partially extended the acquisition of humanness to the 13th postnatal day of life for full-term infants. The Babylonian Talmud Yevamot 69b states that: "the embryo is considered to be mere water until the fortieth day." Afterwards, it is considered subhuman until it is born. The issues of abortion, embryo research, multifetal reduction and cloning will be discussed according to

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

PubMed

Gozlan, Yael; Tenenbaum, Ariel; Shalitin, Shlomit; Lebenthal, Yael; Oron, Tal; Cohen, Ohad; Phillip, Moshe; Gat-Yablonski, Galia

2012-09-01

Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance; a primary defect in insulin secretion with non-ketotic hyperglycemia, age of onset under 25 yr; and lack of autoantibodies. Heterozygous mutations in glucokinase (GCK) are associated with mild fasting hyperglycemia and gestational diabetes mellitus while homozygous or compound heterozygous GCK mutations result in permanent neonatal diabetes mellitus. Given that both the Israeli-Arabic and the various Israeli-Jewish communities tend to maintain ethnic seclusion, we speculated that it would be possible to identify a relatively narrow spectrum of mutations in the Israeli population. To characterize the genetic basis of GCK-MODY in the different ethnic groups of the Israeli population. Patients with clinically identified GCK-MODY and their first degree family members. Molecular analysis of GCK was performed on genomic DNA using polymerase chain reaction, denaturing gradient gel electrophoresis (DGGE), and sequencing. Bioinformatic model was preformed using the NEST program. Mutations in GCK were identified in 25 families and were all family-specific, except c.616A>C. p.T206P. This mutation was identified in six unrelated families, all patients from a Jewish-Ashkenazi descent, thus indicating an ethno-genetic correlation. A simple, fast, and relatively cheap DGGE/restriction-digestion assay was developed. The high incidence of the mutant allele in GCK-MODY patients of Jewish-Ashkenazi descent suggests a founder effect. We propose that clinically identified GCK-MODY patients of Jewish-Ashkenazi origin be first tested for this mutation. © 2011 John Wiley & Sons A/S.

Positional Cloning of an Ashkenzai Jewish Hereditary Prostate Cancer

DTIC Science & Technology

2006-01-01

prostate cancer risk. Cancer Res 65: 1213-1222. Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA. (2004) Frequency of CHEK2 mutations...Genetics, Salt Lake City, UT, 2005. * First author "Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate...Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res. 6:R629-35. 7

Perspectives of Palestinian and Jewish Parents in Israel on Bilingual Education

ERIC Educational Resources Information Center

Nasser, Ilham

2011-01-01

This article is based on a study conducted at the first Arabic and Hebrew bilingual school in Israel (Neve-Shalom/Wahat-Alsalam--NSWAS). The article focuses on Jewish as well as Palestinian parents' perspectives and responses to survey questions and interviews conducted at the school. Parents named reasons for choosing the school, satisfaction…

Jewish Education in the Age of the Rediscovery of the Soul

ERIC Educational Resources Information Center

Yares, Laura

2016-01-01

The literature on Reform Jewish education in America rightly recognizes Emanuel Gamoran's work in establishing the direction of Hebrew schools in the Reform movement toward a cultural pluralism influenced by Samson Benderley et al. Yet the terrain onto which Gamoran stepped was not unmarked. Prior to his tenure, three Reform rabbis thought hard…

ARAC--The Montreal Jewish General Hospital Alzheimer Risk Assessment Clinic.

PubMed

Schipper, Hyman M; Liberman, Adrienne; Kelner, Nora; Babins, Lennie; Fried, Lynda; Bilbul, Melanie; Goodman, Rachel

2011-07-01

In parallel with robust efforts world-wide to develop effective neuroprotection for established disease, resources are being mobilized to delineate risk factors and implement preventive measures in a concerted effort to forestall the anticipated Alzheimer disease (AD) epidemic. A review of heritable and 'acquired' dementia risk factors, many operating at midlife, is presented in a companion paper. In 2009, an Alzheimer Risk Assessment Clinic (ARAC) was established at the Jewish General Hospital (Montreal) to address the concerns increasingly being voiced by active middle-aged individuals at risk for AD. A positive family history of AD and/or perceived changes in personal cognitive function (predominantly short-term memory) are main reasons for referral. The primary objectives of ARAC are to (i) ascertain, inform and mitigate the risks of developing AD in cognitively-healthy persons aged 40-65 based on best available medical and epidemiological evidence, (ii) conduct scientific research on midlife dementia risk and prevention in this population and (iii) provide instruction in dementia risk assessment and management to health professionals, clinical/research fellows, medical residents and students. ARAC infrastructure, evaluation protocol, risk profile classification scheme, interventions, knowledge dissemination program, case vignettes, and seminal research projects are described. It is hoped that ARAC and similar initiatives will help prevent or delay dementia by innovating effective interventions based on increasingly nuanced estimation of modifiable AD risk in presymptomatic persons.

Skin lighteners, Black consumers and Jewish entrepreneurs in South Africa.

PubMed

Thomas, Lynn M

2012-01-01

This article considers the rise and decline of South Africa's lucrative and controversial skin-lighteners market through examination of the business history of the largest manufacturers, Abraham and Solomon Krok, and their evolving personas as millionaires and philanthropists. Such examination reveals how the country's skin-lighteners trade emerged as part of the broader growth of a black consumer market after the Second World War and how elements of that market became the target of anti-apartheid protests in subsequent decades. It also demonstrates how the Kroks' experiences as second-generation Jewish immigrants shaped their involvement in the trade and how, later, their self-identification as Jewish philanthropists informed their efforts to rehabilitate their reputations following South Africa's 1990 ban on all skin lighteners. Such efforts include the building of Johannesburg's highly acclaimed Apartheid Museum, modelled after the United States Holocaust Memorial Museum. This article explores the profound ironies that some South Africans see in the fact that a museum dedicated to commemorating those who suffered under and, ultimately, triumphed against state racism was financed by a family fortune generated through the sale of skin lighteners to black consumers.

[The organization of Jewish dentists in pre-Israel Palestine].

PubMed

Keren-Kratz, M

2016-04-01

The first modern dental institutes were established in Europe and in the USA during the 1840s. At that period there wasn't a single qualified doctor in Palestine, not to mention a professional dentist. A couple of decades later, as the number of Christian pilgrims grew, some modern hospitals were established and a few non-Jewish dentists opened their clinics in Jerusalem, which was then and in the following decades, the region's largest city. In Europe, dentistry became a popular profession among Jews in general and among Jewish women in particular. The first Jewish dentist settled in Jerusalem in the mid-1880s. Other dentists were slow to arrive and their number began to grow only after the turn of the 20th century. Their professional education varied from those who were trained as apprentices by other dentists to those which studied a couple of years in an academic dental school. The devastation caused by WWI prompted American-Zionist organizations to send a special medical unit to Palestine in 1918. Along medical supplies it also brought a small group of doctors and dentists. The two American dentists that decided to remain in Palestine took upon themselves to spread their medical and scientific knowledge. They also organized the dentists, whose number grew considerably during the 1920s, and called the authorities to regulate the dental profession. In 1926 the British authorities issued a decree regulating all medical professions. It demanded that dental practitioners will be licensed after proving their previous studies and professional knowledge. In 1931, local dentists' organizations decided to establish the Palestine Dental Association. Five years later it was accepted as a member by the International Dental Federation (FDI) and was recognized by the local authorities. Since the 1930s, prominent Jewish dentists from abroad were invited to come to Palestine to lecture, and local dentists participated in international conferences. This prompted the first

Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction.

PubMed

Elstein, Deborah; Foldes, A Joseph; Zahrieh, David; Cohn, Gabriel M; Djordjevic, Maja; Brutaru, Costin; Zimran, Ari

2011-06-15

Since bone pathology is a major concern in type 1 Gaucher disease (GD1), we evaluated bone mineral density (BMD) in adults receiving velaglucerase alfa in the seminal Phase I/II and extension trial. Ten treatment-naïve symptomatic patients with GD1 (four men, six women; median age 35years, range 18-62years) were included; of these, four patients were receiving bisphosphonates at enrollment. Using WHO criteria to classify the lumbar spine (LS) and femoral neck (FN) BMD T-scores, respectively, one (10%) and four (40%) patients had osteoporosis; eight (80%) and five (50%) had osteopenia; and one each (10%) was in the normal range, at baseline. By Month 69, two LS and one FN osteopenic patients normalized and one FN osteoporotic patient became osteopenic; change was seen only in patients not receiving bisphosphonates. Significant improvements in BMD Z-scores were seen at the LS by Month 24 and at the FN by Month 33 and were continuous thereafter. In linear mixed models, Z-scores were significantly lower than the reference population at baseline and improved significantly with treatment (LS and FN both P<0.01); analysis of the subgroup of patients not receiving bisphosphonates showed similar results. In conclusion, in this small cohort, velaglucerase alfa was associated with clinically meaningful and statistically significant LS and FN BMD improvements as early as Month 24 (LS) and 33 (FN), despite dose reduction and significant baseline skeletal pathology. These results suggest that velaglucerase alfa may hold promise in the management of skeletal pathology associated with GD1. Copyright © 2011 Elsevier Inc. All rights reserved.

3 CFR 8379 - Proclamation 8379 of May 12, 2009. Jewish American Heritage Month, 2009

Code of Federal Regulations, 2010 CFR

2010-01-01

... to pursue their own American dreams for more than 300 years. During some periods, Jews sought refuge... hardship and tenacious in following their dreams, Jewish Americans have surmounted the challenges that...

Crisis and Response: The Emergence of Modern Jewish Politics in Russia.

ERIC Educational Resources Information Center

Ritterband, Paul

This collection of documents examines the response of the Jewish people--primarily in Russia but also in the West--to the sociological and political crises of Tsarist Russia between the years 1800 and 1914. It emphasizes in particular the emergence and interaction of the two ideologies which formulated the most radical solutions to the Jewish…

Digital Dreams: The Potential in a Pile of Old Jewish Newspapers

ERIC Educational Resources Information Center

Jefferson, Rebecca; Taylor, Laurie; Santamaria-Wheeler, Lourdes

2012-01-01

To celebrate the thirtieth anniversary of the Isser and Rae Price Library of Judaica at the University of Florida, the Price Library launched the first stage of a project to digitize an important, special collection of anniversary editions of Jewish newspapers from around the world. This article provides the history of the collection, need for…

Support for Palestinians among Jewish Americans: The Importance of Education and Contact

ERIC Educational Resources Information Center

Dessel, Adrienne B.; Abu Ahmad, Manal Yazbak; Dembo, Robert; Ben Hagai, Ella

2017-01-01

The violent and protracted Israeli-Palestinian conflict continues, and Jewish Americans play a significant role in influencing related US foreign policy as well as in promoting positive interactions with Palestinians globally. Diaspora populations have played an important role in international peace processes and American Jews are actively…

Enteral nutrition in end of life care: the Jewish Halachic ethics.

PubMed

Greenberger, Chaya

2015-06-01

Providing versus foregoing enteral nutrition is a central issue in end-of-life care, affecting patients, families, nurses, and other health professionals. The aim of this article is to examine Jewish ethical perspectives on nourishing the dying and to analyze their implications for nursing practice, education, and research. Jewish ethics is based on religious law, called Halacha. Many Halachic scholars perceive withholding nourishment in end of life, even enterally, as hastening death. This reflects the divide they perceive between allowing a fatal disease to naturally run its course until an individual's vitality (life force or viability) is lost versus withholding nourishment for the vitality that still remains. The latter they maintain introduces a new cause of death. Nevertheless, coercing an individual to accept enteral nourishment is generally considered undignified and counterproductive. A minority of Halachic scholars classify withholding enteral nutrition as refraining from prolonging life, permitted under certain circumstances, especially in situations where nutritional problems flow directly from a fatal pathology. In the very final stages of dying, moreover, there is a general consensus that enteral nourishment may be withheld, providing that this reflects the dying individuals' wishes. In the event of enteral nourishment becoming a source of overwhelming discomfort, two Halachic ethical mandates would come into conflict: sustaining life by providing nourishment and alleviating suffering. As in all moral conflicts, these would have to be resolved in practice. This article presents the issue of enteral nourishment as it unfolds in Halacha in comparison to secular and other religious perspectives. It is meant to serve as a foundation for nurses to reflect on their own practice and to explore the implications for nursing practice, education, and research. In a world that remains broadly religious, it is important to sensitize health practitioners to the

3 CFR 8813 - Proclamation 8813 of May 2, 2012. Jewish American Heritage Month, 2012

Code of Federal Regulations, 2013 CFR

2013-01-01

...; yet, through every obstacle, generations carried with them the deep conviction that a better future... upon all Americans to visit www.JewishHeritageMonth.gov to learn more about the heritage and...

Are There Jewish Digital Badges?: A Study of Religious Middle- and High-School Girls' Perception of an Emerging Educational Technology-Based Assessment

ERIC Educational Resources Information Center

Abramovich, Samuel

2017-01-01

For Jewish education, digital badges can provide an alternative to traditional assessments. However, the emerging research on badges suggests a complex relationship between learning opportunities, the learner, and the design of the badge. An investigation of a digital badge system at an ultra-Orthodox Jewish middle and high school for girls…

"By the Rivers of Babylon": Deterritorialization and the Jewish Rhetorical Stance

ERIC Educational Resources Information Center

Bernard-Donals, Michael

2010-01-01

The position of the excluded other, it seems to the author, is the position that has characterized Jews since antiquity: exiled from the nation and dispersed to other nations, Jewish participation in civic life has been defined, even in modernity, by its marginalization and precariousness. The Jew, in other words, provides a salient example of the…

The Guide with the Tourist Gaze: Jewish Heritage Travel to Poland

ERIC Educational Resources Information Center

Cohen, Sharon Kangisser

2015-01-01

Over the past three decades, travel to Poland for youth and young adults has become increasingly popular, to the extent that it is even seen as a "rite of passage" for members of many Jewish communities. For these groups, the accompanying guides or educators are central to their educational experience. Based on a series of interviews…

Stuck in the Middle with Jews: Religious Privilege and Jewish Campus Life

ERIC Educational Resources Information Center

Goren, Seth

2014-01-01

Many scholars have examined religious privilege in society and on campus, evidencing the privileged place Christianity generally enjoys and the marginalization that Jews often encounter, regardless of the school they attend. That said, in considering the Jewish higher education experience, something else is at play here. When juxtaposed with…

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

PubMed

Parvari, R; Moses, S; Shen, J; Hershkovitz, E; Lerner, A; Chen, Y T

1997-01-01

Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent among North African Jews in Israel (prevalence 1:5,400, carrier prevalence 1:35). All North African Jewish GSD III patients examined have both liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. A single mutation in the AGL gene, the deletion of T at position 4,455 (4,455delT) in homozygous form, was found in this patient population. The mutation 4,455delT results in the change of 17 amino acids at the carboxy terminus of the AGL protein (1,486-1,502) and truncation of the last 30 amino acids of the normal AGL 1,532 amino acids. The mutation appears to be ethnic specific as it was not seen in 18 patients of different ethnic origins. This is the first report of a mutation in the AGL gene affecting a considerable number of GSD III patients in a defined population.

Sphingolipid metabolism diseases.

PubMed

Kolter, Thomas; Sandhoff, Konrad

2006-12-01

Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs. Most sphingolipidoses are associated with high mortality. Both, the ratio of substrate influx into the lysosomes and the reduced degradative capacity can be addressed by therapeutic approaches. In addition to symptomatic treatments, the current strategies for restoration of the reduced substrate degradation within the lysosome are enzyme replacement therapy (ERT), cell-mediated therapy (CMT) including bone marrow transplantation (BMT) and cell-mediated "cross correction", gene therapy, and enzyme-enhancement therapy with chemical chaperones. The reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT.

Ethnic Identity, Multiculturalism, and Their Interrelationships: Differences between Jewish and Arab Students

ERIC Educational Resources Information Center

Hen, Meirav; Kraus, Eran; Goroshit, Marina

2016-01-01

The present research investigates the differences in attitudes toward multiculturalism and the level of ethnic identification among Arab and Jewish students in Israel. In addition, ethnic group effects on the relationship between the two variables were examined. Based on a sample of 142 college students, the findings indicated that Arab students…

Differences in clinical and pathological characteristics of colorectal cancer in Arab as compared to Jewish patients in Northern Israel.

PubMed

Glushko, Yelena; Basher, Walid; Barchana, Micha; Zidan, Jamal

2010-09-01

The Incidence of colorectal cancer (CRC) differs in different ethnic groups. The aim of this study is to investigate clinical and pathological features of CRC in Arab as compared to Jewish patients in Northern Israel. Clinical and pathological characteristics of 480 patients with CRC treated between 1999 and 2006 were retrospectively reviewed. Eighty-five percent of the patients were Jews and 15% were Arabs. Mean age at diagnosis was 67.1 years in Jews and 58.3 years in Arabs (P < 0.001). Stage I CRC was 17.5% versus 7.2% (P < 0.05), Stage II was 35.5% versus 27.5% (P < 0.01), Stage III was 26% versus 33.3% (P:0 < 0.01) and Stage IV 21% versus 31% (P < 0.01) in Jewish and Arab patients respectively. In 40.6% of Jewish patients, cancer was well differentiated compared to 27.1% of Arab patients (P < 0.01) and poorly differentiated in 5.5% versus 10,4% (P < 0.05). Abdominal pain, constipation and weight loss were more common in Arabs than in Jews (P < 0.05). In conclusion CRC is more advanced, more aggressive and more symptomatic in Arab than in Jewish patients. Arab patients are younger at the time of diagnosis. Screening for CRC should be started at earlier age in the Arab population than the population at large.

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.

PubMed

Goker-Alpan, Ozlem; Masdeu, Joseph C; Kohn, Philip D; Ianni, Angela; Lopez, Grisel; Groden, Catherine; Chapman, Molly C; Cropp, Brett; Eisenberg, Daniel P; Maniwang, Emerson D; Davis, Joie; Wiggs, Edythe; Sidransky, Ellen; Berman, Karen F

2012-08-01

Mutations in GBA, the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher disease, are common risk factors for Parkinson disease, as patients with Parkinson disease are over five times more likely to carry GBA mutations than healthy controls. Patients with GBA mutations generally have an earlier onset of Parkinson disease and more cognitive impairment than those without GBA mutations. We investigated whether GBA mutations alter the neurobiology of Parkinson disease, studying brain dopamine synthesis and resting regional cerebral blood flow in 107 subjects (38 women, 69 men). We measured dopamine synthesis with (18)F-fluorodopa positron emission tomography, and resting regional cerebral blood flow with H(2)(15)O positron emission tomography in the wakeful, resting state in four study groups: (i) patients with Parkinson disease and Gaucher disease (n = 7, average age = 56.6 ± 9.2 years); (ii) patients with Parkinson disease without GBA mutations (n = 11, 62.1 ± 7.1 years); (iii) patients with Gaucher disease without parkinsonism, but with a family history of Parkinson disease (n = 14, 52.6 ± 12.4 years); and (iv) healthy GBA-mutation carriers with a family history of Parkinson disease (n = 7, 50.1 ± 18 years). We compared each study group with a matched control group. Data were analysed with region of interest and voxel-based methods. Disease duration and Parkinson disease functional and staging scores were similar in the two groups with parkinsonism, as was striatal dopamine synthesis: both had greatest loss in the caudal striatum (putamen Ki loss: 44 and 42%, respectively), with less reduction in the caudate (20 and 18% loss). However, the group with both Parkinson and Gaucher diseases showed decreased resting regional cerebral blood flow in the lateral parieto-occipital association cortex and precuneus bilaterally. Furthermore, two subjects with Gaucher disease without parkinsonian manifestations showed diminished striatal dopamine. In conclusion

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

PubMed Central

Goker-Alpan, Ozlem; Masdeu, Joseph C.; Kohn, Philip D.; Ianni, Angela; Lopez, Grisel; Groden, Catherine; Chapman, Molly C.; Cropp, Brett; Eisenberg, Daniel P.; Maniwang, Emerson D.; Davis, Joie; Wiggs, Edythe; Berman, Karen F.

2012-01-01

Mutations in GBA, the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher disease, are common risk factors for Parkinson disease, as patients with Parkinson disease are over five times more likely to carry GBA mutations than healthy controls. Patients with GBA mutations generally have an earlier onset of Parkinson disease and more cognitive impairment than those without GBA mutations. We investigated whether GBA mutations alter the neurobiology of Parkinson disease, studying brain dopamine synthesis and resting regional cerebral blood flow in 107 subjects (38 women, 69 men). We measured dopamine synthesis with 18F-fluorodopa positron emission tomography, and resting regional cerebral blood flow with H215O positron emission tomography in the wakeful, resting state in four study groups: (i) patients with Parkinson disease and Gaucher disease (n = 7, average age = 56.6 ± 9.2 years); (ii) patients with Parkinson disease without GBA mutations (n = 11, 62.1 ± 7.1 years); (iii) patients with Gaucher disease without parkinsonism, but with a family history of Parkinson disease (n = 14, 52.6 ± 12.4 years); and (iv) healthy GBA-mutation carriers with a family history of Parkinson disease (n = 7, 50.1 ± 18 years). We compared each study group with a matched control group. Data were analysed with region of interest and voxel-based methods. Disease duration and Parkinson disease functional and staging scores were similar in the two groups with parkinsonism, as was striatal dopamine synthesis: both had greatest loss in the caudal striatum (putamen Ki loss: 44 and 42%, respectively), with less reduction in the caudate (20 and 18% loss). However, the group with both Parkinson and Gaucher diseases showed decreased resting regional cerebral blood flow in the lateral parieto-occipital association cortex and precuneus bilaterally. Furthermore, two subjects with Gaucher disease without parkinsonian manifestations showed diminished striatal dopamine. In conclusion, the

Democracy's Jewish and Christian Roots: What World History Textbooks Don't Tell You.

ERIC Educational Resources Information Center

Gagnon, Paul

1987-01-01

Discusses the fact that although Jewish (along with Greek ideas) and Christian ideas make up the roots of Western culture, they are hardly mentioned in recent historical textbooks. This shortchanges students because they fail to learn the religious sources of human rights and democracy. (PS)

Forms and Patterns of Parent Participation at a Jewish and Catholic School

ERIC Educational Resources Information Center

Ross, Renee Rubin

2012-01-01

Given that all schools solicit parent participation, an important question is whether and how this varies by school. I draw on observation and interviews with parents, teachers, and administrators at a Jewish day school and Catholic school to identify forms and patterns of participation. I found that communicating and volunteering were similar at…

After "DeFunis": Affirmative Action and the Jewish Community. Analysis, No. 46.

ERIC Educational Resources Information Center

Frank, Steven

The problems raised by the development of affirmative action and by the Jewish community's response to the complex social and legal issue are analyzed. The analysis focuses upon: initiation of affirmative action by presidential decree and its interpretation and implementation by the Department of Health, Education, and Welfare in the areas of…

Aging among Jewish Americans: Implications for Understanding Religion, Ethnicity, and Service Needs

ERIC Educational Resources Information Center

Glicksman, Allen; Koropeckyj-Cox, Tanya

2009-01-01

Purpose: This article challenges popular conceptions of the nature of ethnicity and religiousness in the gerontological literature. Using the example of older Jewish Americans, the authors argue for more nuanced definitions and usage of terms such as "religion" and "ethnicity" in order to begin to understand the complex interweaving of these two…

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

PubMed

Alfonso, Pilar; Pampín, Sandra; Estrada, Jorge; Rodríguez-Rey, José Carlos; Giraldo, Pilar; Sancho, Javier; Pocoví, Miguel

2005-01-01

Gaucher disease (GD) is a disorder of glycosphinglipid metabolism caused by deficiency of lysosomal acid beta-glucosidase (GC), resulting in progressive deposition of glucosylceramide in macrophages. The glucose analogue, N-butyl-deoxynojirimycin (NB-DNJ, Miglustat), is an inhibitor of the ceramide-specific glucosyltransferase (CSG) which catalyzes the first step of glycosphingolipids biosynthesis and is currently approved for the oral treatment of type 1 GD. Using site-directed mutagenesis, we constructed plasmids containing wild-type and several mutations in glucocerebrosidase (GBA) gene. The plasmids were transfected into COS-7 cells and stable transfected cell lines were obtained by geneticin (G418) selection. Cells were cultured during 6 days with medium with or without 10 microM NB-DNJ. The addition of NB-DNJ to COS-7 cell medium leads to 1.3-, 2.1-, 2.3-, 3.6-, and 9.9-fold increase in the activity of S364R, wild-type, N370S, V15M, and M123T GC, respectively. However, no significant changes were observed in the activity of the L444P, L336P, and S465del mutated proteins, but a small decrease in the rare P266L variant was observed. These results suggest that NB-DNJ, in addition to the inhibitory effect on CSG, also works as a "chemical chaperone", increasing the activity of acid beta-glucosidase of wild-type and several GC mutated proteins, including the most frequent N370S mutation. The specific location of the Miglustat binding site in GC is unknown. Potential binding sites in the enzyme have been searched for using computational molecular docking. The searching strategy identified three potential GC binding sites for Miglustat, one being the substrate-binding site of the enzyme, which was the best-ranked site by AutoDock program. Therefore, it is possible that Miglustat exerts its chaperoning activity on acid beta-glucosidase by acting as an inhibitor bound at the active site. This increase on the activity of the acid beta-glucosidase would imply that

Intergenerational Transmission of Parenting Style among Jewish and Arab Mothers in Israel

ERIC Educational Resources Information Center

Pasternak, Rachel

2014-01-01

Parental modeling of behavior has long been considered a major socialization process for children. In this piece, the author explores how parenting behavior is passed from one generation to the next, focusing on parenting styles among Jewish and Muslim mothers in Israel. The results indicate that young mothers tend to reproduce their parents'…

Quantification of Bone Marrow Involvement in Treated Gaucher Disease With Proton MR Spectroscopy: Correlation With Bone Marrow MRI Scores and Clinical Status.

PubMed

Jaramillo, Diego; Bedoya, Maria A; Wang, Dah-Jyuu; Pena, Andres H; Delgado, Jorge; Jaimes, Camilo; Ho-Fung, Victor; Kaplan, Paige

2015-06-01

The objective of our study was to use proton MR spectroscopy (MRS) to quantitatively evaluate bone marrow infiltration by measuring the fat fraction (FF) and to compare the FF with semiquantitative bone marrow MRI scores and clinical status in children treated for type 1 Gaucher disease (GD). Over a 2-year period, we prospectively evaluated 10 treated GD patients (six males, four females; median age, 15.1 years) and 10 healthy age-matched control subjects (five males, five females; median age, 15.3 years) using 3-T proton MRS of L5 and the femoral neck. Water and lipid AUCs were measured to calculate the FF. Two blinded pediatric musculoskeletal radiologists performed a semiquantitative analysis of the conventional MR images using the bone marrow burden score and modified Spanish MRI score. We evaluated symptoms, spleen and liver volumes, platelet levels, hemoglobin levels, and bone complications. In the femur, the FF was higher in the control subjects (median, 0.71) than the GD patients (0.54) (p = 0.02). In L5, the difference in FF--higher FF in control subjects (0.37) than in GD patients (0.26)--was not significant (p = 0.16). In both groups and both regions, the FF increased with patient age (p < 0.02). Semiquantitative scores showed no differences between control subjects and treated GD patients (p > 0.11). Eight of 10 GD patients were asymptomatic and two had chronic bone pain. The median age of patients at symptom onset was 4.0 years, the median age of patients at the initiation of enzyme replacement therapy was 4.3 years, and the median treatment duration was 10.2 years. Hemoglobin level, platelet count, and liver volume at MRI were normal. Mean pretreatment spleen volume (15.4-fold above normal) decreased to 2.8-fold above normal at the time of MRI (p = 0.01). Proton MRS detected FF differences that were undetectable using conventional MRI; for that reason, proton MRS can be used to optimize treatment of GD patients.

Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.

PubMed

Pastores, Gregory M; Shankar, Suma P; Petakov, Milan; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J; Szer, Jeffrey; Chertkoff, Raul; Brill-Almon, Einat; Zimran, Ari

2016-07-01

Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries. Study PB-06-002 examined the safety and efficacy of taliglucerase alfa for 9 months in patients who previously received imiglucerase. The results of adult patients from Study PB-06-002 who continued receiving taliglucerase alfa in extension Study PB-06-003 for up to 36 months are reported here. Eighteen patients received at least one dose of taliglucerase alfa in Study PB-06-003; 10 patients completed 36 total months of therapy, and four patients who transitioned to commercial drug completed 30-33 months of treatment. In patients who completed 36 total months of treatment, mean percent (±standard error) changes from baseline/time of switch to taliglucerase alfa to 36 months were as follows: hemoglobin concentration, -1.0% (±1.9%; n = 10); platelet count, +9.3% (±9.8%; n = 10); spleen volume measured in multiples of normal (MN), -19.8% (±9.9%; n = 7); liver volume measured in MN, +0.9% (±5.4%; n = 8); chitotriosidase activity, -51.5% (±8.1%; n = 10); and CCL18 concentration, -36.5 (±8.0%; n = 10). Four patients developed antidrug antibodies, including one with evidence of neutralizing activity in vitro. All treatment-related adverse events were mild or moderate and transient. The 36-month results of switching from imiglucerase to taliglucerase alfa treatment in adults with GD provide further data on the clinical safety and efficacy of taliglucerase alfa beyond the initial 9 months of the original study. www.clinicaltrials.gov identifier NCT00705939. Am. J. Hematol. 91:661-665, 2016. © 2016 Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Hematology Published by Wiley Periodicals, Inc.

The Jewish contribution to medicine. Part III. The 19th and 20th centuries in the USA.

PubMed

Dubovsky, H

1989-08-05

The Jewish hospital movement in the USA, which started in the last century for Jews as foreign immigrants and was extended to the general population this century, is an extensive organisation. Refugee physicians from Europe laid the foundations of Jewish medical involvement in medicine in the USA with Abraham Jacobi, the founder of paediatrics, Landsteiner, who discovered blood grouping, and Waksman, who evolved streptomycin. Other eminent workers, such as the Flexner brothers in medical education and research, Libman, who pioneered blood culture in the USA, and Salk and Sabin with the poliomyelitis vaccine were prominent in the major contribution of Jews to medicine in the USA.

A Linguistic Analysis of the Role of Israel in American Jewish Schooling

ERIC Educational Resources Information Center

Chazan, Barry

2015-01-01

This essay analyzes the place of Israel in American Jewish schooling from the beginning of the 20th century until the early years of the 21st century. It utilizes curricula, textbooks, and instructional units, as well as other primary and secondary sources to delineate four distinct periods of Israel education. The subject of Teaching Israel is…

Jewish Ethnicity and Educational Opportunities in Israel: Evidence from a Curricular Reform

ERIC Educational Resources Information Center

Feniger, Yariv

2015-01-01

Based on a 20% representative sample of all high school students in Israel in the mid-1990s, this study explores a reform implemented in low socio-economic status (SES) state religious high schools. Most of their students were from the disadvantaged Jewish ethnic group in Israel, Mizrachim. Perceived as unable to meet the requirements of academic…

Jewish Day Schools and Afrocentric Programs as Models for Educating African American Youth.

ERIC Educational Resources Information Center

Gill, Walter

1991-01-01

Examines the success of Jewish Day schools (in terms of curriculum, parent involvement, and societal implications) in the United States and Afrocentric educational programs (in terms of arguments for, focus on male students, transition to adulthood, and community involvement) in developing positive self-concepts and academic success among…

Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity.

PubMed

Ash, S; Johnson, C; Shohat, M; Shohat, T; Schlesinger, M

1994-08-01

The properdin deficiency gene has been localized to Xp21.1-Xcen; however, it is not clear whether the mutation responsible for the disease co-maps exactly with the structural properdin gene. Based on a recent study on a total of six families, the gene was found linked to DXS255 (theta = 0.00). As only a few families have been studied, it is not known whether the same gene is responsible for the disease in all families. In order to better localize the disease gene in Israel, we studied a Tunisian Jewish family with properdin deficiency for linkage with various X-markers. A maximum lod score of 1.93 at theta = 0.00 was calculated with the DXS7 probe while there was one recombination with DXS255. This study helps to better localize the properdin deficiency gene to Xp11.3-p21.1 proximal to DXS255 locus and confirms that there is no indication of genetic heterogeneity. Whether the properdin structural gene (PFC) and properdin deficiency locus are one and the same await demonstration of mutations in the structural gene in patients with properdin deficiency.

The rescue of Jewish physicians in the independent state of Croatia (NDH), 1941-1945.

PubMed

Gitman, Esther

2009-01-01

Despite the murder of three-fourths of Croatia's Jews, Croatian doctors, representatives of the Ministry of Health, and other government figures saved 142 Jewish physicians by mobilizing them for a mission to alleviate endemic syphilis in Bosnia. Twenty-seven others were recruited into the Home Guard. Along with members of their families, these Jews were granted "Aryan rights." In 1942 some began defecting to the partisans; others followed after the capitulation of Italy in 1943. Many died in battle, succumbed to typhus, or were murdered by the Nazis, the Croatian fascist Ustae, or the Serbian nationalist etniks. But the story recounted below shows how much better they fared than the Jewish population generally: sixty-two percent survived, thanks to courageous efforts by Croatian civilians and officials. Their rescue demonstrates both that popular attitudes influenced events in Yugoslavia, and that common stereotypes of Croatia during the war should be reconsidered.

The Destruction of Jewish Libraries and Archives in Cracow during World War II.

ERIC Educational Resources Information Center

Sroka, Marek

2003-01-01

Examines the loss of various collections, especially school libraries and the Ezra Library, in Cracow (Poland) during World War II. Highlights include Nazi policies toward Cracow's Jews; the destruction of libraries, archives, and collections; Jewish book collections in the Staatsbibliotek Krakau (state library); and the removal of books by Jewish…

Knowledge and Action, Reason and Habit, in Jewish and Muslim Philosophies of Education

ERIC Educational Resources Information Center

Sokolow, Moshe

2013-01-01

Jewish and Muslim philosophers, alike, regarded the formation of proper habits to be the key to effective education. They also considered rational acceptance of religious obligation to be mandatory for successful observance. This essay examines the relationship between these two dimensions of religious education: knowledge and reason on the one…

Sexual harassment in Jewish and Arab public schools in Israel.

PubMed

Zeira, Anat; Astor, Ron Avi; Benbenishty, Rami

2002-02-01

Current empirical literature on sexual harassment in schools is mostly based on nonrepresentative samples of middle-class high-school Caucasian female students. Thus the scope of research regarding gender, age, and cultural differences is very limited. This article reports on findings on sexual harassment in Jewish and Arab schools in Israel with regard to gender, age, and cultural differences. The study is part of the first national survey on school violence in Israel. The representative sample includes 10,400 students in grades 7 through 11 attending public schools in Israel. Students were asked to report whether they were victims of specific acts of sexual harassment in school during the month before the survey. Overall, 29.1% of the students were victims of at least one act of harassment. The more common acts were to show offensive pictures or to send obscene letters, to take off or to try to take off part of the student's clothing, and to try to kiss a student. The most vulnerable groups are the Arab boys and 8th grade students. Report rates were the lowest among Arab girls. Sexual harassment is prevalent in Israeli schools. The pattern of victimization is different for boys and girls and for students in Jewish and Arab schools. These patterns are a complex phenomenon that must be considered in the intervention and policy measures addressing sexual harassment at school.

The missing link of Jewish European ancestry: contrasting the Rhineland and the Khazarian hypotheses.

PubMed

Elhaik, Eran

2013-01-01

The question of Jewish ancestry has been the subject of controversy for over two centuries and has yet to be resolved. The "Rhineland hypothesis" depicts Eastern European Jews as a "population isolate" that emerged from a small group of German Jews who migrated eastward and expanded rapidly. Alternatively, the "Khazarian hypothesis" suggests that Eastern European Jews descended from the Khazars, an amalgam of Turkic clans that settled the Caucasus in the early centuries CE and converted to Judaism in the 8th century. Mesopotamian and Greco-Roman Jews continuously reinforced the Judaized empire until the 13th century. Following the collapse of their empire, the Judeo-Khazars fled to Eastern Europe. The rise of European Jewry is therefore explained by the contribution of the Judeo-Khazars. Thus far, however, the Khazars' contribution has been estimated only empirically, as the absence of genome-wide data from Caucasus populations precluded testing the Khazarian hypothesis. Recent sequencing of modern Caucasus populations prompted us to revisit the Khazarian hypothesis and compare it with the Rhineland hypothesis. We applied a wide range of population genetic analyses to compare these two hypotheses. Our findings support the Khazarian hypothesis and portray the European Jewish genome as a mosaic of Near Eastern-Caucasus, European, and Semitic ancestries, thereby consolidating previous contradictory reports of Jewish ancestry. We further describe a major difference among Caucasus populations explained by the early presence of Judeans in the Southern and Central Caucasus. Our results have important implications for the demographic forces that shaped the genetic diversity in the Caucasus and for medical studies.

Jews and mental illness: medical metaphors, anti-semitism, and the Jewish response.

PubMed

Gilman, S L

1984-04-01

The idea that Jews were prone to a specific set of illnesses is as old as the Middle Ages. In the nineteenth century the view that the Jew was especially prone to developing mental illnesses became an accepted part of medical discourse. Jewish doctors, too, believed this and had to evolve a means of dealing with their own potential madness.

Equality in the division of household labor: a comparative study of Jewish women and Arab Muslim women in Israel.

PubMed

Kulik, Liat

2007-08-01

In this study, the author compared perceptions of gender-based equality in the division of household labor among Jewish women (n = 60) and Arab Muslim women (n = 62) from dual-earner families in Israel. Guided by theories regarding the division of household labor, the author also explored the impact of 3 sets of variables--resources, gender-role attitudes, and job flexibility (flextime)--on perceived equality in the division of household labor. The findings revealed that the Jewish women tended to perceive the division of household labor as more egalitarian than did their Arab Muslim counterparts. Furthermore, the Jewish women had more egalitarian gender-role attitudes and more job flexibility than did the Arab Muslim women. However, all 3 sets of variables predicted perceived equality in the division of household labor to the same extent for both groups of women. Moreover, for both groups, education level correlated with attitudes toward household labor and with extent of job flexibility. Overall, the findings suggest that education may contribute to improving women's quality of life in both traditional and modem sociocultural contexts.

Teachers' "Inside" Reports on Language Instruction in the Palestinian-Jewish Schools in Israel

ERIC Educational Resources Information Center

Rajuan, Maureen; Bekerman, Zvi

2011-01-01

This study is based on data from teachers' research reports in the context of an in-service workshop for professional development for teachers of the bilingual-integrated Palestinian-Jewish Schools in Israel. We used conventional qualitative methods, looking for patterns and thematic issues of relevance, which were then coded to allow for further…

The family is worthy of being rebuilt: perceptions of the Jewish family in Mandate Palestine, 1918-1948.

PubMed

Razi, Tammy

2010-01-01

Although the Jewish community of Palestine was an extremely family-oriented society and the institute of the family played a major role in the establishment of the new Zionist nationhood, the historiography has henceforth paid little attention to its role, images, and functions. This article will examine the diverse and often contradictory perceptions and influences that have shaped the Zionist period. Traditional Jewish perceptions intertwined with modern, bourgeois, and revolutionary notions of the family, whether national or socialist. These contradictory perceptions were manifested in the contested professional and public discourse regarding the many dysfunctional urban families in Tel Aviv, who were treated by welfare authorities and mental health specialists during the 1930s and 1940s.

Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation.

PubMed

Christomanou, H

1980-10-01

1) Qualitative lipid analyses by thin-layer chromatography of 4 Niemann-Pick type C spleens confirmed sphingomyelin accumulation together with increase in the amount of glucocerebroside. 2) In the presence of crude sodium taurocholate as detergent, sphingomyelin degradation rates of normal and Niemann-Pick type C-cultured fibroblasts were fairly close under standard conditions at pH 5.0. In the absence of sodium taurocholate, sphingomyelinase activity was optimal at pH 4.0. Sphingomyelinase activities of fibroblasts from two patients with Niemann-Pick disease type C measured without detergent, were about 30% of that of controls. 3) Extracts from Gaucher spleen heated to 90 degrees C and devoid of sphingomyelinase activity stimulated at the optimal pH of 4.0 sphingomyelin degradation by cultured normal fibroblasts (2--4-fold, Niemann-Pick type C fibroblasts (5--9-fold), whereas similarly treated extracts from Niemann-Pick type C spleen showed no stimulation of sphingomyelin catabolism. Heated extracts from normal human spleen exhibited a smaller stimulation than that shown by Gaucher spleen. This stimulating effect could not be observed in fibroblasts from patients suffering from Niemann-Pick type B (sphingomyelinase defect). 4) Heat-treated extracts of Gaucher spleen were fractionated by ion exchange chromatography, isoelectric focusing and gel filtration. The active fractions obtained by these procedures stimulated sphingomyelin as well as glucocerebroside degradation and were absent from the corresponding Niemann-Pick type C preparations. Enriched activator preparations of Gaucher spleen stimulated sphingomyelinase activity of Niemann-Pick type C fibroblasts 25--38-fold and that of normal cells 3-fold. 5) The activating factor had an isoelectric point of 4.0 and an apparent molecular weight, as estimated by gel filtration, of 25000. Treatment with pronase E abolished its activity.

"Like a Distant Cousin": Bi-Cultural Negotiation as Key Perspective in Understanding the Evolving Relationship of Future Reform Rabbis with Israel and the Jewish People

ERIC Educational Resources Information Center

Muszkat-Barkan, Michal; Grant, Lisa D.

2015-01-01

This research explores the impact of a year studying in Israel on Hebrew Union College-Jewish Institute of Religion (HUC-JIR) rabbinical students' emotional connection toward and knowledge about the State of Israel and the Jewish People. We want to better understand the students' beliefs, ideas, and behaviors that emerge from their experience…

[A ''humanitarian duty and a matter of honour for German Jewry": "feeble-minded" Jewish children and the Institution in Beelitz].

PubMed

Prestel, Claudia

2014-01-01

In 1908, in collaboration with the Bnei Briss, the German Association of Israelite Communities founded an institution for intellectually disabled Jewish children in Beelitz with the aim of educating 7-14-year-olds, using therapeutic pedagogy. The institution was part of the philanthropic efforts undertaken by German Jewry in that period. It was set up in the wake of the German Kaiser's call to found more philanthropic institutions, and its establishment is indicative of the efforts at integration being made by German Jewry. In their fund-raising material, the German Association of Israelite Communities stressed the "loyalty and patriotism" of German Jewry and described the establishment of the institution as "a humanitarian duty" and "a matter of honour for German Jewry". It was, therefore, demands from the non-Jewish world that led to the foundation of a Jewish institution; however, its establishment was also symbolic of the struggle against anti-Semitism and indicative both of German Jewry's dissimilation and their efforts at integration. The article investigates the struggle of Jewish parents to have their children admitted to the institution, the philosophy and teaching methods of the director Sally Bein (1881-1942) and his wife Friederike Rebeka Bein (1883-1942), the background of the students, the causes of intellectual disability, as well as the disagreements that occurred between parents, teachers and the director. The article also discusses the successes and failures of therapeutic pedagogy.

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

PubMed Central

Vasconcelos, O; Sivakumar, K; Dalakas, M C; Quezado, M; Nagle, J; Leon-Monzon, M; Dubnick, M; Gajdusek, D C; Goldfarb, L G

1995-01-01

Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). Previously described molecular defects include base substitutions altering encoded amino acids or resulting in abnormal splicing. We report a mutation resulting in phosphofructokinase deficiency in three patients from an Ashkenazi Jewish family. Using a reverse transcription PCR assay, PFKM subunit transcripts differing by length were detected in skeletal muscle tissue of all three affected subjects. In the longer transcript, an insertion of 252 nucleotides totally homologous to the structure of the 10th intron of the PFKM gene was found separating exon 10 from exon 11. In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. Single-stranded conformational polymorphism and restriction enzyme analyses confirmed the presence of these point substitutions in genomic DNA and strongly suggested homozygosity for the pathogenic allele. The nonsense mutation at codon 95 appeared solely responsible for the phenotype in these patients, further expanding genetic heterogeneity of Tarui disease. Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene. Images Fig. 2 Fig. 4 Fig. 5 PMID:7479776

Examining differences in drinking patterns among Jewish and Arab university students in Israel.

PubMed

Sznitman, Sharon R; Bord, Shiran; Elias, Wafa; Gesser-Edelsburg, Anat; Shiftan, Yoram; Baron-Epel, Orna

2015-01-01

Worldwide there is a dearth of studies examining drinking patterns in Arabs and how these compare to other populations. The few studies that exist have suggested distinct drinking patterns in Arabs, with not only high rates of abstinence but also high rates of heavy drinking among current drinkers. No studies have yet examined potential socio-cognitive mechanisms that may contribute to this distinct drinking pattern. Israel represents a unique and valuable resource for studying Arab population drinking patterns because Israeli Arabs are nonimmigrants living in areas where exposure to Western lifestyles, including alcohol consumption, is prevalent. The current study was set out to examine differences in alcohol consumption in a convenience sample of 1310 Jewish and Arab students from Israeli universities and colleges and to explore alcohol expectancies as potential mediators of ethno-religious differences. Logistic regressions were used to produce odds ratios and 95% confidence intervals to test differences between Jewish and Arab students on binary outcomes (lifetime, last month, and heavy drinking). Mediation of ethno-religious differences by alcohol expectancies was tested with bootstrapping procedures. Results show that while Israeli Arab students tend to be more likely to abstain from alcohol than Israeli Jewish students, among current drinkers, Israeli Arab students are at a particular high risk of heavy drinking. Results also show that this is partly mediated by the expectancy that alcohol only influences the drinker at high levels of intake. The current study confirms distinct Arab drinking patterns found in previous studies. The present study is the first demonstration that drinking expectations mediate ethno-religious differences in heavy drinking among Israeli Arabs and Jews. This work contributes to the understanding of ethno-religious group differences in harmful drinking, potentially informing future etiologic research and public health interventions

Secondary Guilt Syndrome May Have Led Nazi-persecuted Jewish Writers to Suicide

PubMed Central

Weisz, George M.

2015-01-01

Feelings of guilt have tormented Holocaust survivors, ranging from immediately after the liberation to later in life, for shorter or longer periods, and persisting for some throughout their entire post-war lives. Descriptions of the guilt experienced by survivors of the Nazi camps occupy an impressive amount of literature: “Why me?” was the question, when a younger and more able family member perished; “Why me?” when more productive members of the community perished; “Why me?” when a million and a half children were deprived of their lives. Many found the answer by retelling their stories, witnesses of what happened. This type of guilt is much different from the recently described phenomenon of survivor syndrome, namely the secondary guilt felt by Nazi-persecuted Jewish writers. Despite successes in all aspects of their life, these writers developed a self-incriminating guilt due to their perceived inadequacy of communicating, particularly in light of the resurging anti-Semitism worldwide. This paper deals with the survival and suicides of Nazi-persecuted Jewish writers and offers a possible explanation for their late self-destructive acts. PMID:26886769

Jewish Day-Schooled Adolescents' Perceptions of Parental and Environmental Support of Physical Activity

ERIC Educational Resources Information Center

Kahan, David

2005-01-01

Few studies of religiosity and physical activity (PA) correlates have been conducted; thus, a cross-sectional survey of 367 more and less religious Jewish adolescents' (M age = 12.8 years, SD = 0.9) perceptions of parental and environmental support of PA was conducted at religious day schools in two large American cities. Maternal Support,…

Citizenship Orientation of Two Israeli Minority Groups: Israeli-Arab and Eastern-Jewish Youth.

ERIC Educational Resources Information Center

Ichilov, Orit

The purpose of this study was to examine and compare how Israeli-Arab and Eastern-Jewish adolescents view the role of the citizen. Both groups share a minority status within Israeli society, but have different socializing environments and different political and cultural status. The study population consisted of 118 Israeli-Arab and 279…

"Text-Books and Textpeople" (A. J. Heschel): What Is the Role of the Mehanekh in the Jewish Secular High School in Israel, and What Is the Place of Jewish Texts within That Role?

ERIC Educational Resources Information Center

Sela Kol, Aviva Helena

2011-01-01

My study concerns the teacher knowledge of "mehankhim," teachers in Israeli high schools entrusted to promote students' moral, civic, and social growth. It examines two "mehankhim" from a secular Israeli high school who participated in a long-term professional development program in secular Jewish education, centered by…

Lower Cancer Rates Among Druze Compared to Arab and Jewish Populations in Israel, 1999-2009.

PubMed

Atzmon, Iris; Linn, Shai; Portnov, Boris A; Richter, Elihu; Keinan-Boker, Lital

2017-06-01

The Druze are a small ethnic minority in Israel amounting to about 130,000 residents (or 1.7 % of the total population of the country). Unlike other population groups, the Druze strive to keep their own traditions and marry mainly inside their own community. During the last decade, cancer morbidity among both Jews and Arabs in Israel has been increasing, while data on the Druze are little known and have not been analyzed and compared to other population groups to date. To compare cancer morbidity rates among Druze, Arabs and Jews in Israel during 1999-2009, gender-specific and age-standardized incidence rates of all site cancers and specific cancers of three population groups (Jews, Arabs and Druze) were received from the Israel National Cancer Registry for the period 1999-2009. Based on these rates, periodical incidence rates were calculated and mutually compared across the groups stratified by gender. As the analysis shows, the Druze had significantly lower cancer rates compared to both Arabs and Jews. Thus, for all site cancers, there were significantly higher cancer rates in Jewish males versus Druze males (RR = 1.39, 95 % CI = 1.16-1.65) and in Jewish females versus Druze females (RR = 1.53, 95 % CI = 1.27-1.85), but not statistically significant for Arab males versus Druze males (RR = 1.12 95 % CI = 0.93-1.35). Lung cancer rates in Arab males were also higher compared to Druze males (RR = 1.84, 95 % CI = 1.13-3.00). Jewish males had statistically significant higher rates of prostate cancer compared to Druze males (RR = 2.47, 95 % CI = 1.55-3.91). For thyroid and colon cancers, risks were not significantly different at the 95 % CI level; however, the risks were significantly different at the 90 % CI level (RR = 3.62, 90 % CI 1.20-11.02 and RR = 1.69, 90 % CI = 1.03-2.77, respectively). Jewish females had significantly higher rates of invasive breast cancer (RR = 2.25, 95 % CI = 1.55-3.25), in situ cervical cancer (RR�

Making Pedagogical Decisions to Address Challenges of Joint Jewish-Bedouin Environmental Projects in Israel

ERIC Educational Resources Information Center