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46 results on '"Israel, Shoshana"'

6. TLR4 Polymorphisms, Infectious Diseases, and Evolutionary Pressure during Migration of Modern Humans

Author

Ferwerda, Bart, McCall, Matthew B. B., Alonso, Santos, Giamarellos-Bourboulis, Evangelos J., Mouktaroudi, Maria, Izagirre, Neskuts, Syafruddin, Din, Kibiki, Gibson, Cristea, Tudor, Hijmans, Anneke, Hamann, Lutz, Israel, Shoshana, ElGhazali, Gehad, Troye-Blomberg, Marita, Kumpf, Oliver, Maiga, Boubacar, Dolo, Amagana, Doumbo, Ogobara, Hermsen, Cornelus C., Stalenhoef, Anton F. H., van Crevel, Reinout, Brunner, Han G., Oh, Djin-Ye, Schumann, Ralf R., de la Rúa, Concepcion, Sauerwein, Robert, Kullberg, Bart-Jan, van der Ven, André J. A. M., van der Meer, Jos W. M., and Netea, Mihai G.

Published
2007
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15. Causative Drugs of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Israel

Author

Maggio, Nicola, primary, Firer, Maria, additional, Zaid, Huda, additional, Bederovsky, Yana, additional, Aboukaoud, Mohammed, additional, Gandelman-Marton, Revital, additional, Noyman, Iris, additional, Ekstein, Dana, additional, Blatt, Ilan, additional, Marom, Eli, additional, Schwartzberg, Eyal, additional, Israel, Shoshana, additional, Ingber, Arieh, additional, Brautbar, Chaim, additional, and Eyal, Sara, additional

Published
2017
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16. Genetic risk factors for antiepileptic drug-induced hypersensitivity reactions in Israeli populations

Author

Israel, Shoshana, primary, Maggio, Nicola, additional, Ekstein, Dana, additional, Zaid, Huda, additional, Firer, Maria, additional, Bederovsky, Yana, additional, Noyman, Iris, additional, Gandelman-Marton, Revital, additional, Blatt, Ilan, additional, Brautbar, Chaim, additional, Marom, Eli, additional, Nahlieli Dil, Dorit, additional, Berman, Erez, additional, Sabag, David, additional, Ingber, Arieh, additional, and Eyal, Sara, additional

Published
2016
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17. Identification of 33 novel HLA alleles in Arab potential bone marrow donors.

Author

Bishara, Amal, Brautbar, Chaim, Cereb, Nezih, and Israel, Shoshana

Subjects
BONE marrow, ALLELES, SHORT tandem repeat analysis, FORENSIC genetics, IDENTIFICATION
Abstract

Between 2008 and April 2018, we recruited more than 37 000 potential Arab donors to the Hadassah Bone Marrow Donor Registry, all of whom were typed for high resolution HLA‐A, ‐B, and ‐DRB1. In addition, more than 22% of them were also typed for their HLA‐C and ‐DQB1 alleles. A comparison of the sequences obtained from these donors with the IPD‐IMGT/HLA Database showed 33 novel alleles from five loci (HLA‐A, ‐B, ‐C, ‐DR, ‐DQ). All of these novel HLA alleles were detected in the local Arab communities; 79% of these alleles have not been described in other groups yet and remain unique to the local Arab communities. [ABSTRACT FROM AUTHOR]

Published
2020
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21. 106-P

Author

Bishara, Amal, primary, Brautbar, Chiam, additional, Israel, Shoshana, additional, Halagan, Michael, additional, Madbouly, Abeer, additional, Vina, Marcelo Fernandez, additional, and Maiers, Martin, additional

Published
2013
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23. AnSNX10mutation causes malignant osteopetrosis of infancy

Author

Aker, Memet, primary, Rouvinski, Alex, additional, Hashavia, Saar, additional, Ta-Shma, Asaf, additional, Shaag, Avraham, additional, Zenvirt, Shamir, additional, Israel, Shoshana, additional, Weintraub, Michael, additional, Taraboulos, Albert, additional, Bar-Shavit, Zvi, additional, and Elpeleg, Orly, additional

Published
2012
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24. 150-P: Unexpected Admixture Levels Revealed by HLA

Author

Klitz, William, primary, Gragert, Loren, additional, Maiers, Martin, additional, Walaszeski, Janesz, additional, Fernandez-Vina, Marcelo, additional, Brautbar, Chaim, additional, Israel, Shoshana, additional, and Benedek, Gil, additional

Published
2010
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25. The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism

Author

Unluhizarci, Kursad, primary, Kula, Mustafa, additional, Dundar, Munis, additional, Tanriverdi, Fatih, additional, Israel, Shoshana, additional, Colak, Ramis, additional, Dokmetas, Hatice Sebila, additional, Atmaca, Hulusi, additional, Bahceci, Mithat, additional, Balci, Mustafa Kemal, additional, Comlekci, Abdurrahman, additional, Bilen, Habip, additional, Akarsu, Ersin, additional, Erem, Cihangir, additional, and Kelestimur, Fahrettin, additional

Published
2010
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28. The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism

Author

Unluhizarci, Kursad, primary, Kula, Mustafa, additional, Dundar, Munis, additional, Tanriverdi, Fatih, additional, Israel, Shoshana, additional, Colak, Ramis, additional, Dokmetas, Hatice Sebila, additional, Atmaca, Hulusi, additional, Bahceci, Mithat, additional, Balci, Mustafa Kemal, additional, Comlekci, Abdurrahman, additional, Bilen, Habip, additional, Akarsu, Ersin, additional, Erem, Cihangir, additional, and Kelestimur, Fahrettin, additional

Published
2009
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42. 106-P: HLA ALLELE AND HAPLOTYPE FREQUENCIES FOR CHRISTIAN AND MUSLIM ARAB DONORS IN HADASSAH REGISTRY.

Author

Bishara, Amal, Brautbar, Chiam, Israel, Shoshana, Halagan, Michael, Madbouly, Abeer, Vina, Marcelo Fernandez, and Maiers, Martin

Subjects
*ALLELES, *HLA histocompatibility antigens, *HAPLOTYPES, *GENE frequency, *ORGAN donors, *BONE marrow transplantation
Abstract

Aim: The Arab Bone Marrow Registry in Hadassah Medical Center collected HLA typings for 18,000 Arab adult donors. We used this information to estimate population allele and haplotype frequencies (HFs). Methods: We calculated HLA A∼B∼DRB1 HFs from 1,541 Christian Arab (CA) and 16,129 Muslim Arab (MA) donors typed by SBT, resolving phase and allelic ambiguity using Expectation Maximization. HFs were estimated at the four-digit level. Results: The most common CA haplotype was A∗33:01∼B∗14:02∼DRB1∗01:02 at a frequency of 1.6%, which is the fifth most common MA haplotype at 0.9%. This haplotype was the second ranked in the US Middle Eastern/North Coast of Africa (MENAFC) at 0.8% and is also a common Jewish haplotype. The most common MA haplotype was A∗01:01∼B∗52:01∼DRB1∗15:02 at 1.4%, which is ranked 41st in CA at 0.04%. This haplotype was ranked 12th in MENAFC at 0.26%. The fourth ranked haplotype for both CA and MA, A∗02:05∼B∗50:01∼DRB1∗07:01, is the most common in Saudi Arabia, Kuwait and Qatar and the fourth most common among Jewish populations. Average homozygosity for CA and MA for HLA-A, -B and -DRB1 was estimated at 6.7% and 6.2% while the top 30 haplotypes had a cumulative frequency of 25% and 19% respectively indicating higher MA genetic diversity. Interestingly, eight DRB1 alleles: 01:02, 03:01, 04:03, 07:01, 11:01, 11:04, 13:03 and 15:02 constituted over 63% of the allele frequencies for both CA and MA while 97% and 30% of patients served by the Arab registry had one or two of these alleles respectively. Additionally, DRB1∗03:01 occurred without the common Caucasian B∗08:01 association in about 85% of CA and MA donors. Clinical data showed that 40% of transplants were for Arab patients while others were for patients worldwide. Conclusions: Comparing CA and MA to other published HFs, it is clear that some haplotypes have migrated across populations while others remain isolated, thus adding these donors to the world registry is vital to increase genetic diversity for the benefits of all patients. [Copyright &y& Elsevier]

Published
2013
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44. The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism

Author

Mustafa Kemal Balci, Shoshana Israel, Kursad Unluhizarci, Mustafa Kula, Cihangir Erem, Fatih Tanriverdi, Mithat Bahceci, Abdurrahman Comlekci, Ersin Akarsu, Ramis Colak, Hulusi Atmaca, Hatice Sebila Dökmetaş, Fahrettin Kelestimur, Munis Dundar, Habip Bilen, Zonguldak Bülent Ecevit Üniversitesi, [Unluhizarci, Kursad -- Tanriverdi, Fatih -- Kelestimur, Fahrettin] Erciyes Univ, Sch Med, Dept Endocrinol, Kayseri, Turkey -- [Kula, Mustafa] Erciyes Univ, Sch Med, Dept Nucl Med, Kayseri, Turkey -- [Dundar, Munis] Erciyes Univ, Sch Med, Dept Genet, Kayseri, Turkey -- [Israel, Shoshana] Hadassah Med Org, Tissue Typing Lab, Jerusalem, Israel -- [Colak, Ramis] Firat Univ, Sch Med, Dept Endocrinol, TR-23169 Elazig, Turkey -- [Dokmetas, Hatice Sebila] Cumhuriyet Univ, Sch Med, Dept Endocrinol, Sivas, Turkey -- [Atmaca, Hulusi] Karaelmas Univ, Sch Med, Dept Endocrinol, Zonguldak, Turkey -- [Bahceci, Mithat] Dicle Univ, Sch Med, Dept Endocrinol, Diyarbakir, Turkey -- [Balci, Mustafa Kemal] Akdeniz Univ, Sch Med, Dept Endocrinol, TR-07058 Antalya, Turkey -- [Comlekci, Abdurrahman] Dokuz Eylul Univ, Sch Med, Dept Endocrinol, Izmir, Turkey -- [Bilen, Habip] Ataturk Univ, Sch Med, Dept Endocrinol, Erzurum, Turkey -- [Akarsu, Ersin] Gaziantep Univ, Sch Med, Dept Endocrinol, Gaziantep, Turkey -- [Erem, Cihangir] Karadeniz Tech Univ, Sch Med, Dept Endocrinol, Trabzon, Turkey, and BALCI, Mustafa Kemal -- 0000-0002-6494-3249

Subjects
Adult, Turkish population, medicine.medical_specialty, Hirsutism, Adolescent, Genotype, Turkey, medicine.drug_class, Adrenal hyperplasia, Endocrinology, Diabetes and Metabolism, Population, Physiology, Polymerase Chain Reaction, Young Adult, Endocrinology, Adrenocorticotropic Hormone, medicine, Prevalence, Humans, education, hirsutism, Polycystic ovary syndrome, Gynecology, education.field_of_study, medicine.diagnostic_test, Adrenal Hyperplasia, Congenital, business.industry, 17-alpha-Hydroxyprogesterone, Hyperandrogenism, ACTH stimulation test, Obstetrics and Gynecology, DNA, Middle Aged, Androgen, medicine.disease, Polycystic ovary, polycystic ovary syndrome, Population study, Female, Steroid 21-Hydroxylase, business
Abstract

WOS: 000274578300015, PubMed ID: 19718570, The prevalence of non-classic adrenal hyperplasia (NCAH) among Turkish women with hirsutism has not been established so far. Thus, we aimed to evaluate the prevalence of 21-hydroxylase (21-OH) deficiency by ACTH stimulation test among hirsute women. The study population consisted of 285 premenopousal women, aged 16-46 years (mean: 23.2 +/- 0.3). All were hirsute and hyperandrogenic. Androgen secreting tumors of the ovaries and the adrenal glands were excluded as well as thyroid dysfunction and hyperprolactinemia. All the patients were evaluated by 0.25 mg (i.v.) ACTH stimulation test and 17-OHP responses were obtained at 30 and 60 min. The diagnosis of NCAH due to 21-OH deficiency was considered in patients with the poststimulation 17-OHP level exceed 10 ng/ml. Six (2.1%) of the patients had NCAH due to 21-OH deficiency confirmed by genotyping. The rest of the patients were polycystic ovary syndrome (n = 166, 58.2%) and idiopathic hyperandrogenemia (n = 113, 39.7%). There were no patients with idiopathic hirsutism because patients with normal serum androgen levels were excluded. This first and most extensive national study investigating NCAH prevalence among Turkish population showed that NCAH is not prevalent in this population., The Scientific and Technical Research Council of Turkey, TUBITAK [SBAG-3170], This study was supported by The Scientific and Technical Research Council of Turkey, TUBITAK, (SBAG-3170).

Published
2009

45. Effect of guidance during cardiac catheterization on emotional, cognitive and behavioral outcomes.

Author

Shiloh S, Steinvil A, Drori E, Peleg S, Abramowitz Y, Banai S, and Finkelstein A

Subjects
Aged, Angioplasty, Balloon, Coronary methods, Angioplasty, Balloon, Coronary rehabilitation, Anxiety etiology, Anxiety prevention & control, Attitude of Health Personnel, Attitude to Health, Cardiac Catheterization methods, Computer Peripherals, Coronary Artery Disease psychology, Coronary Artery Disease therapy, Female, Humans, Male, Middle Aged, Psychometrics, Quality of Life, Self Efficacy, Treatment Outcome, Angioplasty, Balloon, Coronary psychology, Cardiac Catheterization psychology, Cognition, Emotions, Patient Education as Topic methods
Abstract

Aims: Percutaneous coronary intervention (PCI) may be perceived as a frightening experience. Some psychological factors are known correlates of recovery and rehabilitation of cardiac patients. Our objective was to investigate the emotional, cognitive and behavioral effects of patient guidance during their cardiac catheterization., Methods: We performed a randomized trial comparing a patient group that was instructed while watching the monitor screen during their PCI (study group) and another group that was not (controls). Replies to questionnaires measuring emotional, cognitive and behavioral variables known to be associated with cardiac patients' health status, rehabilitation and quality of life were collected 1 day and 1 month after the procedure., Results: The study group included 57 patients and the control group included 51 patients. Most patients (∼87%) were men at the mean age of 60. They were well matched for reasons for referral to PCI. The study group reported less pain, a more positive affect, greater self-efficacy and stronger intentions to change health-related behaviors than the control group. At 1 month following the procedure, the study group evaluated their general health as significantly better, and reported a less negative affect, less cardiac anxiety, greater functional self-efficacy and more positive outcome expectancies regarding diet, and quitting smoking than the controls., Conclusion: A simple adjustment in the standard PCI protocol can become a highly beneficial psychological intervention for enhancing patient outcomes.

Published
2014
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46. Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14.

Author

Israel S, Weinrib L, Weintrob N, Miller K, and Brautbar C

Subjects
Adrenal Hyperplasia, Congenital ethnology, Alleles, Arabs ethnology, Arabs genetics, DNA Mutational Analysis, Genetic Linkage, Genetics, Population, HLA-B14 Antigen, Humans, Israel, Jews ethnology, Jews genetics, Adrenal Hyperplasia, Congenital genetics, HLA-B Antigens genetics, Steroid 21-Hydroxylase genetics
Abstract

The V281L mutation in the CYP21 gene, responsible for non classical CAH, was studied in patients of different Israeli ethnic groups and compared to the data on healthy population. The Israeli population consists of many ethnic groups which can be divided into three main entities: Ashkenazi, Non Ashkenazi and Israeli Arabs. The frequency of V281L mutation in the patients of the different ethnic groups varied and was a reflection of the frequency found in the healthy population namely: very high in the Ashkenazi (74%) , lower in the non Ashkenazi (39%) and very low in the Israeli Arabs (2.9%) . The phenomenon of strong association between the HLA B14 allele and the V281L mutation found in our population study, as well as in other studies, confirmed by linkage found in patient families, can be used to distinguish between homozygote and hemizygote carrying the V281L mutation, when no family study is available. The relevance of this finding is especially important in cases of genetic counseling when a carrier of a severe mutation is involved.

Published
2006

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