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1.
Isr Med Assoc J ; 26(5): 283-288, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38736342

RESUMO

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease involving apocrine gland-bearing regions. There is an under-representation of non-Caucasians in epidemiologic studies of HS. The characteristics of HS in Israeli Arabs have not yet been studied. OBJECTIVES: To investigate the demographic and clinical profile of HS in the Israeli Arab population. METHODS: A retrospective analysis was conducted in two cohorts of patients with HS in Israel. The patients were derived from the database of a large health management organization (n=4191, 639 Arabs; population-based) and a major tertiary medical center (n=372, 49 Arabs). Demographic and clinical data were compared between ethnic groups. RESULTS: The prevalence of HS in Israeli Arabs was found to be 0.5%, fivefold higher than in Jews. Arab patients were younger (35.3 vs. 40.5 years, P < 0.001) and mostly male (52% vs. 35.7%, P < 0.001), with lower rates of co-morbidities, including smoking (40.8% vs. 55.7%, P < 0.001), hyperlipidemia, and depression as well as a higher rate of dissecting cellulitis (10.2% vs. 1.9%, P = 0.008). HS was more severe in Arabs, but of shorter duration, with mainly axillary involvement (79.6% vs. 57.9%, P = 0.004). Treatment with hormones was more common in Jews, and with biologic agents in Arabs. CONCLUSIONS: The findings suggest a different phenotype of HS in Arabs, warranting further study.


Assuntos
Árabes , Hidradenite Supurativa , Judeus , Humanos , Hidradenite Supurativa/etnologia , Hidradenite Supurativa/epidemiologia , Árabes/estatística & dados numéricos , Judeus/estatística & dados numéricos , Israel/epidemiologia , Masculino , Feminino , Adulto , Estudos Retrospectivos , Prevalência , Pessoa de Meia-Idade , Comorbidade , Estudos de Coortes
2.
Isr Med Assoc J ; 26(4): 211-215, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38616664

RESUMO

BACKGROUND: On 7 April 1933, the Nazi Law for the Restoration of the Professional Civil Service was enacted. The law triggered the dismissal of most Jewish medical staff from German universities. A few Jewish professors in Berlin were permitted to continue their academic activity with restrictions. Those professors were gradually dismissed as laws and restrictions were enforced. OBJECTIVES: To identify the last Jewish medical professors who, despite severe restrictions, continued their academic duties and prepared students for their examinations in Berlin after the summer of 1933. METHODS: We reviewed dissertations written by the medical faculty of Berlin from 1933 to 1937 and identified Jewish professors who mentored students during those years. RESULTS: Thirteen Jewish tutors instructed dissertations for the medical examinations after the Nazi regime seized power. They were employees of different university hospitals, including the Jewish hospitals. We did not identify Aryan students instructed by Jewish professors. The professors were active in different medical disciplines. Half of the reviewed dissertations were in the disciplines of surgery and gynecology. The last Jewish tutors were dismissed in October 1935. However, some of their studies were submitted for examination after that date. CONCLUSIONS: After the Nazi regime seized power, academic activities and medical research by Jewish professors declined but did not stop. However, these professors worked with only Jewish students on their theses. Most dissertations were approved and examined after the Jewish academics were dismissed by the university, in some cases even after they left Germany.


Assuntos
Educação Médica , Judeus , Humanos , Berlim , Alemanha , Judaísmo
3.
J Psychiatr Res ; 174: 153-158, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38631140

RESUMO

The October 7th, 2023, terror attacks in Israel were characterized by a scope and magnitude not previously known to Israeli citizens. The aim of this study was to examine the prevalence and correlates of posttraumatic stress disorder (PTSD), emotional distress and use of addictive substances among Israeli adults, approximately one month following the attacks. PTSD was assessed with the Posttraumatic Stress Disorder Checklist (PCL-5) and emotional distress was assessed with a brief version of the Hopkins Symptom Checklist (HSCL-25). Participants also ranked the degree of change in their frequency of use of six addictive substances. The final sample consisted of 415 Jewish and Arab Israeli adults. Results indicate that one month following the attacks, 31.4% of the total sample qualified for positive screening of PTSD. An increase in the use of tobacco, alcohol, tranquilizers and sleep medications was reported by 16.5%, 10.1%, 11.1% and 10.6% of the sample, respectively. Being at a younger age, of female sex and with increased exposure to the attacks was associated with increased levels of PTSD (ß = -0.24, p < 0.001; ß = 0.19, p < 0.001 and ß = 0.29, p < 0.001, respectively) and increased distress (ß = -0.22, p < 0.001, ß = 0.26, p < 0.001 and ß = 0.19, p < 0.001, respectively). Being male was significantly associated with increased use of cannabis (Adjusted Odds Ratio (AOR) = 4.73, 95% Confidence Interval (CI) = 1.70-13.13, p = 0.003), and level of exposure to traumatic events was significantly associated with increased use of tranquilizers (AOR = 1.58, 95% CI = 1.17-2.13, p = 0.003). The high magnitude of symptomatic response should alert other countries as they prepare for national disasters.


Assuntos
Transtornos de Estresse Pós-Traumáticos , Transtornos Relacionados ao Uso de Substâncias , Terrorismo , Humanos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Israel/epidemiologia , Masculino , Feminino , Adulto , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Terrorismo/psicologia , Terrorismo/estatística & dados numéricos , Pessoa de Meia-Idade , Adulto Jovem , Angústia Psicológica , Prevalência , Árabes/estatística & dados numéricos , Judeus/estatística & dados numéricos , Idoso , Adolescente
4.
Molecules ; 29(6)2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38543013

RESUMO

Phytochemicals from waste materials generated by agricultural and industrial processes have become globally significant due to their accessibility and potential effectiveness with few side effects. These compounds have essential implications in both medicine and the economy. Therefore, a quantitative analysis of the phytochemical profile, sugar types, and water-soluble vitamins of dried Corchorus olitorius L."DJMS" extract (dried Jew's mallow stem) was carried out with HPLC. In addition, the chemical composition, TPC, chlorophyll a and b, beta-carotene, and antioxidant effect using DPPH were investigated. Furthermore, the anticancer activity of the DJMS was evaluated by SRB assay using Huh-7 and MDA-MB-231 cell lines. In the quantitative study, DJMS extract showed a high antioxidant potential (67%) due to its content of bioactive compounds such as TPC (276.37 mg 100 g-1) and chlorophyll a and b (20.31, 12.02 mg 100 g-1, respectively), as well as some vitamins and minerals such as B-complex (B12; 146.8 mg 100 g-1 and vitamin C 6.49 mg 100 g-1) and selenium (<0.2 µg kg-1). Moreover, the main sugar types found were sucrose and stachyose, which recorded 9.23 and 6.25 mg 100 g-1, respectively. Identifying phenolic and flavonoids showed that the major components were ellagic acid (4905.26 µg kg-1), ferulic acid (3628.29 µg kg-1), chlorogenic acid (3757.08 µg kg-1), luteolin-7-O-glucoside (4314.48 µg kg-1), naringin (4296.94 µg kg-1) and apigenin-6-rhamnose-8 glucoside (3078.87 µg kg-1). The dried stem extract showed significant MDA-MB-231 inhibition activity and reached 80% at a concentration of 1000 µg/mL of DJMS extract, related to the content of phytochemical components such as isoflavones like genistein (34.96 µg kg-1), which had a tremendous anticancer effect. Hence, the stem of Jew's mallow (which is edible and characterized by its viability and low production cost) possesses the capacity to serve as a pharmaceutical agent for combating cancer owing to its abundance of bioactive components.


Assuntos
Antineoplásicos , Antioxidantes , Humanos , Antioxidantes/análise , Clorofila A , Egito , Judeus , Flavonoides/farmacologia , Antineoplásicos/farmacologia , Extratos Vegetais/farmacologia , Extratos Vegetais/química , Compostos Fitoquímicos/farmacologia , Compostos Fitoquímicos/análise , Vitaminas , Açúcares
5.
BMC Cancer ; 24(1): 310, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38448861

RESUMO

BACKGROUND: Invasive breast cancer (IBC) is a leading cause of cancer-related death among women in Israel, regardless of ethnicity. This study compared IBC epidemiological, clinical, and pathological characteristics in Bedouin and Jewish patients in southern Israel. METHODS: Medical records of 1514 Jewish and 191 Bedouin women with IBC treated at Soroka University Medical Center between 2014 and 2021 were analyzed retrospectively. Baseline measures and tumor characteristics were compared between groups. Overall survival (OS) and disease-free survival (DFS) were analyzed using log-rank test. Multivariate analysis was performed using the Cox proportional hazard model. RESULTS: Bedouin patients exhibited a significantly younger age at diagnosis (median 48 vs. 62 years, p < 0.001), larger tumor size (median 2.5 vs. 2.13 cm, p < 0.001), and higher metastasis rate (18.8% vs. 12.7%, p = 0.03) compared to Jewish patients. In early-stage (non-metastatic) disease, Jewish and Bedouin patients had comparable overall survival (OS) rates (127 vs. 126 months, p = 0.2), consistent across stages 1 to 3. However, among patients with metastatic disease, Bedouins exhibited significantly longer OS (76.6 vs. 37.8 months, p = 0.006). Disease-free survival (DFS) showed no ethnic differences (not reached vs. 122 months, p = 0.31). There were no significant differences in OS between Bedouin and Jewish patients undergoing various treatment modalities for early-stage disease: surgery, adjuvant radiotherapy, chemotherapy, and systemic neoadjuvant therapy. CONCLUSION: Breast cancer among Bedouin women in southern Israel manifests at a younger age, with larger tumors and more advanced stages than in Jewish women. However, recent data indicate no differences in OS and DFS between the ethnic groups despite past disparities in prognosis.


Assuntos
Neoplasias da Mama , Judeus , Humanos , Feminino , Árabes , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/terapia , Estudos Retrospectivos , Israel/epidemiologia
6.
Lancet Oncol ; 25(3): 284, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38342113
7.
Public Health Genomics ; 27(1): 57-67, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38402864

RESUMO

INTRODUCTION: Although the prevalence of a pathogenic variant in the BRCA1 and BRCA2 genes is about 1:400 (0.25%) in the general population, the prevalence is as high as 1:40 (2.5%) among the Ashkenazi Jewish population. Despite cost-effective preventive measures for mutation carriers, Orthodox Jews constitute a cultural and religious group that requires different approaches to BRCA1 and BRCA2 genetic testing relative to other groups. This study analyzed a dialog of key stakeholders and community members to explore factors that influence decision-making about BRCA1 and BRCA2 genetic testing in the New York Orthodox Jewish community. METHODS: Qualitative research methods, based on Grounded Theory and Narrative Research, were utilized to analyze the narrative data collected from 49 key stakeholders and community members. A content analysis was conducted to identify themes; inter-rater reliability was 71%. RESULTS: Facilitators of genetic testing were a desire for preventive interventions and education, while barriers to genetic testing included negative emotions, feared impact on family/romantic relationships, cost, and stigma. Views differed on the role of religious leaders and healthcare professionals in medical decision-making. Education, health, and community were discussed as influential factors, and concerns were expressed about disclosure, implementation, and information needs. CONCLUSION: This study elicited the opinions of Orthodox Jewish women (decision-makers) and key stakeholders (influencers) who play critical roles in the medical decision-making process. The findings have broad implications for engaging community stakeholders within faith-based or culturally distinct groups to ensure better utilization of healthcare services for cancer screening and prevention designed to improve population health.


Assuntos
Proteína BRCA1 , Proteína BRCA2 , Testes Genéticos , Judeus , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Neoplasias da Mama/etnologia , Neoplasias da Mama/psicologia , Tomada de Decisão Clínica/métodos , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Judeus/genética , Judeus/psicologia , New York , Pesquisa Qualitativa
9.
Isr J Health Policy Res ; 13(1): 1, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38167112

RESUMO

BACKGROUND: Weight-related stigma and discrimination are prevalent in our society with adverse biopsychosocial outcomes to people with obesity and morbid obesity. Studies suggest that weight bias in healthcare settings are quite prevalent, but there have been, as far as we know, lack of studies examining prevalence and correlates of weight bias experiences among bariatric surgery candidates in Israel. We aim to understand the nature and prevalence of weight stigma among bariatric surgery candidates. To identify differences between Jewish and Arab candidates. To examine the impact of weight stigma experiences on weight bias internalization (WBI). METHODS: A cross-sectional study was performed among 117 adult bariatric surgery candidates from three hospitals in northern Israel (47.8% Jews, 82.4% females, average BMI 42.4 ± 5.2 Kg/meter2). Patients who agreed to participate completed a structured questionnaire on the same day that the bariatric surgery committee met. WBI was measured using a validated 10-item scale. Experiences of weight stigma were measured using items adapted from prior international studies. RESULTS: About two thirds of the participants had at least one experience of weight stigma (teased, treated unfairly, or discriminated against because of their weight). As many as 75% of participants reported that weight served as a barrier to getting appropriate health care and as many as half of participants felt in the last year that a doctor judged them because of their weight. No significant differences were found between Arabs and Jews in the prevalence of weight stigma experiences and WBI. However, a trend towards more stigma experiences among Jews was noted. WBI was predicted by female gender and experiences of weight stigma, both in general and within healthcare settings. CONCLUSIONS: Weight stigma towards bariatric surgery candidates in Israel is quite prevalent, and specifically in healthcare settings. It is important to adopt policy actions and intervention programs to improve awareness to this phenomenon among the general public and specifically among healthcare providers, as many healthcare providers may be unaware of the adverse effect of weight stigma and of ways in which they are contributing to the problem. Future studies may validate our findings using larger sample size and longitudinal design.


Assuntos
Cirurgia Bariátrica , Preconceito de Peso , Adulto , Feminino , Humanos , Masculino , Árabes , Estudos Transversais , Israel/epidemiologia , Judeus , Estereotipagem , Estigma Social
10.
Palliat Support Care ; 22(1): 163-168, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36872568

RESUMO

OBJECTIVES: Pediatric palliative care services improve the quality of life for children with life-limiting and life-threatening diseases, although little has been published about variation based on cultural and religious factors. This article sets out to describe clinical and cultural characteristics of pediatric end-of-life patients in a majority Jewish and Muslim country with religious and legal constraints around end-of-life care. METHODS: We conducted a retrospective chart review of 78 pediatric patients who died during a 5-year period and could potentially have utilized pediatric palliative care services. RESULTS: Patients reflected a range of primary diagnoses, most commonly oncologic diseases and multisystem genetic disorders. Patients followed by the pediatric palliative care team had less invasive therapies, more pain management and advance directives, and more psychosocial support. Patients from different cultural and religious backgrounds had similar levels of pediatric palliative care team follow-up but certain differences in end-of-life care. SIGNIFICANCE OF RESULTS: In a culturally and religiously conservative context that poses constraints on decision-making around end-of-life care, pediatric palliative care services are a feasible and important means of maximizing symptom relief, as well as emotional and spiritual support, for children at the end of life and their families.


Assuntos
Cuidados Paliativos , Assistência Terminal , Humanos , Criança , Cuidados Paliativos/psicologia , Islamismo , Judeus , Qualidade de Vida , Estudos Retrospectivos , Assistência Terminal/psicologia , Morte
11.
Int J Clin Pract ; 2023: 8881715, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37936891

RESUMO

Background: Recent reports have confirmed the improving trends in colorectal cancer (CRC) incidence and outcomes. Still, disparities in incidence and mortality in CRC continue to persist between major ethnic groups despite the provision of widespread screening and improved care. We aimed to outline, from an endoscopic point of view, ethnic disparities in major endoscopic measures concerned with CRC screening and detection and track their impact on patients' outcomes. Methods: We reviewed electronic reports of patients referred for colonoscopy procedures over 20 years. We compared demographic, clinical, and endoscopic findings between major ethnic population groups in Israel. In addition, trends of screening utilization, bowel preparation, and polyp detection rates were tracked, and the incidence of CRC diagnosis was followed. Results: A total of 51307 patients had undergone colonoscopies, of whom 16% were Arabs, and 84% were Jewish. The procedures performed for CRC screening throughout the study period were significantly lower in Arabs (5% vs. 13.1%; P < 0.0001). In parallel, for most of the follow-up period, the Arab patients had higher rates of inadequate bowel preparation (overall: 19.9% vs. 12%; P < 0.001) and a lower polyp detection rate (16.7% vs. 22.5%; P < 0.0001). Expectedly, the incidence of CRC has steadily decreased in the Jewish group, while an adverse pattern of increasing incidence was documented in the Arab patient during the follow-up period. Conclusion: Characterized by lower screening utilization and poor bowel preparation, the incidence of CRC development in Arab patients is increasing, while improving trends of CRC were observed in their Jewish counterparts.


Assuntos
Colonoscopia , Neoplasias Colorretais , Humanos , Árabes , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Detecção Precoce de Câncer , Etnicidade , Judeus , Programas de Rastreamento
12.
Cancer Treat Res ; 187: 237-259, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37851231

RESUMO

Judaism offers a rich body of traditional beliefs and practices surrounding end-of-life, death, mourning, and the afterlife. A more detailed understanding of these topics might prove helpful to clinicians seeking guidance for how best to care for Jewish patients, to anyone supporting dying individuals, or to anyone interested in learning more about the subject. The objectives of this chapter are to examine Jewish approaches to key bioethical issues surrounding palliative care, to analyze meaning-making rituals following a loss, at a funeral, and throughout mourning, and to explore Jewish beliefs in an afterlife. Research was collected from sacred texts, legal codes, modern rabbinic responsa literature, and secondary sources. Core, guiding principles include human beings' creation "in the image of God," an obligation to save life, an obligation to mitigate pain, a prohibition against self-harm and hastening death, respect for the dead, and ritualized mourning periods ("shiva," "shloshim," and "shanah"), which feature special liturgy ("kaddish") and practices. Judaism is a religion that values thorough questioning, debate, and argumentation. It also encompasses diverse cultural and ethnic backgrounds, and various denominations. Many Jews are also unaffiliated with a movement or rarely engage with traditional law altogether. For all of these reasons, no summary can comprehensively encapsulate the wide range of opinions that exist around any given topic. That said, what follows is a detailed overview of traditional Jewish approaches to artificial nutrition/hydration, extubation, dialysis, euthanasia and more. It also outlines rituals surrounding and following death. Finally, views and beliefs of the afterlife are presented, as they often serve to imbue meaning and comfort in times of grief, uncertainty, and transition.


Assuntos
Judeus , Judaísmo , Humanos , Pesar
13.
Leuk Lymphoma ; 64(13): 2148-2155, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37715316

RESUMO

Several studies showed ethnic disparities in multiple myeloma (MM) incidence and prognosis. In order to compare prognosis and overall survival between different ethnic groups, a multicenter retrospective study was conducted in Northern Israel. A total of 145 patients suffering from MM were included (72% Jewish, and 28% Arabs) who were treated between 2008-2018. A difference was found in the stage of the disease at the time of diagnosis, patients of Arab origin were diagnosed at a more advanced stage (III), (53.7% vs. 33.7%, respectively). A mortality rate of 48.9% was found in the study, regardless of population ethnic origin. No significant differences in rates of MGUS, MM symptoms, treatments, or progression-free survival (PFS) and overall survival (OS) were observed between ethnic groups. This suggests that raising awareness of MM may result in an earlier diagnosis, especially among patients of Arab origin, preventing unnecessary suffering from these patients.


Assuntos
Mieloma Múltiplo , Humanos , Estudos Retrospectivos , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/epidemiologia , Mieloma Múltiplo/terapia , Israel/epidemiologia , Etnicidade , Árabes , Judeus
14.
Aging Cell ; 22(10): e13962, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37605876

RESUMO

Genome-wide association studies (GWAS) have pinpointed the chromosomal locus 9p21.3 as a genetic hotspot for various age-related disorders. Common genetic variants in this locus are linked to multiple traits, including coronary artery diseases, cancers, and diabetes. Centenarians are known for their reduced risk and delayed onset of these conditions. To investigate whether this evasion of disease risks involves diminished genetic risks in the 9p21.3 locus, we sequenced this region in an Ashkenazi Jewish centenarian cohort (centenarians: n = 450, healthy controls: n = 500). Risk alleles associated with cancers, glaucoma, CAD, and T2D showed a significant depletion in centenarians. Furthermore, the risk and non-risk genotypes are linked to two distinct low-frequency variant profiles, enriched in controls and centenarians, respectively. Our findings provide evidence that the extreme longevity cohort is associated with collectively lower risks of multiple age-related diseases in the 9p21.3 locus.


Assuntos
Doença da Artéria Coronariana , Neoplasias , Idoso de 80 Anos ou mais , Humanos , Centenários , Judeus/genética , Estudo de Associação Genômica Ampla , Longevidade/genética , Doença da Artéria Coronariana/genética , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença
15.
Gene ; 887: 147728, 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-37634880

RESUMO

BACKGROUND: Wilson disease is caused by pathogenic variants in the ATP7B gene which encodes a copper-transporting ATPase. AIMS: Describe a common founder pathogenic variant among Bukharan Jews and to assess its prevalence, clinical features, and outcome. METHODS: The cohort consisted of patients of Bukharan Jewish descent diagnosed with Wilson disease at a tertiary pediatric medical center in 2013-2018. Clinical and genetic data were collected and analyzed. RESULTS: Six patients from 4 unrelated families who were homozygous for the c.3784G > T p.(Val1262Phe) pathogenic variant in ATP7B were identified. Five presented with elevated aminotransferase levels, and one, with acute liver failure. Mean age at diagnosis was 8.7 years (5-12.5). Serum ceruloplasmin level was extremely low in all patients (1.9-7 mg/dL; mean 3.2(. The variant was identified in a heterozygous state in 5/153 Bukharan Jews; 2/33 from our local exome database and 3/120 healthy unrelated Bukharan Jews in another cohort, for an estimated carrier frequency of ∼1:30. CONCLUSIONS: We report a common founder pathogenic variant in the ATP7B gene among Bukharan Jews associated with severe early-onset Wilson disease. Given the clinical severity, high frequency of the variant, and being a treatable disease, its inclusion in pre-symptomatic screening in the Bukharan Jewish community should be considered. Furthermore, WD should be part of future genetic newborn screening programs in Israel and worldwide, to enable early treatment and prevention of future life-threatening complications.


Assuntos
Degeneração Hepatolenticular , Recém-Nascido , Humanos , Criança , Degeneração Hepatolenticular/genética , Degeneração Hepatolenticular/epidemiologia , Judeus/genética , Israel/epidemiologia , ATPases Transportadoras de Cobre/genética , Testes Genéticos , Heterozigoto , Mutação
16.
J Med Genet ; 60(12): 1186-1197, 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-37451831

RESUMO

BACKGROUND: Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women. METHODS: We generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel. RESULTS: In the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28). CONCLUSIONS: Extant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Estudo de Associação Genômica Ampla , Judeus/genética , Israel/epidemiologia , Predisposição Genética para Doença , Fatores de Risco , Herança Multifatorial/genética , Fatores de Transcrição
17.
Harefuah ; 162(6): 370-375, 2023 Jun.
Artigo em Hebraico | MEDLINE | ID: mdl-37394440

RESUMO

INTRODUCTION: Hereditary breast and ovarian cancer (HBOC) is predominantly accounted for by pathogenic variants (PVs) in BRCA1/BRCA2 genes. Population screening for recurring PVs in Ashkenazi Jews (AJ) was incorporated into the Israeli health basket in 2020, increasing the identification of BRCA carriers. Information on cancer risks for each PV in Israel is limited. AIMS: To assess genotype phenotype correlations of recurring BRCA PVs in Israeli carriers. METHODS: A retrospective cohort of 3,478 BRCA carriers followed-up in 12 medical centers, comprising the HBOC Consortium, formed the basis of the study. Data were collected using the electronic database, and analyzed by Chi square, t-tests and Kaplan-Meier survival analysis. RESULTS: Overall, 2145 BRCA1, 1131 BRCA2, and 22 double heterozygote PV carriers were analyzed. BRCA1 carriers had more cases of cancer (53.1% vs. 44.8%, p<0.001), ovarian cancer (OC) (17.1% vs. 10.6%, p<0.001), younger age at breast cancer (BC) (45.4 ±11.6SD years vs. 49.1 ±11.1SD years, p<0.001) and OC diagnosis (52.8 ±10.1SD yrs. vs. 61±10.6SD yrs. p<0.001), and more family history of BC (64.5% vs. 59.0%, p<0.001) and OC (36.7% vs. 27.3%, p<0.001) compared with BRCA2 carriers. Carriers of BRCA15382insC had more BC and less OC than BRCA1185delAG: 46.4% vs. 38.6% and 12.9% vs. 17.6% (p<0.04), respectively. CONCLUSIONS: In our population, similar to others, BRCA1 carriers have higher cancer rates and earlier age at diagnosis compared with BRCA2 carriers. The two recurring BRCA1 PVs have different risks: 5382insC carriers had more BC; 185delAG carriers had more OC. Risk-reducing measures should be based on variant-specific cancer risk.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Humanos , Feminino , Israel/epidemiologia , Estudos Retrospectivos , Genes BRCA1 , Recidiva Local de Neoplasia , Proteína BRCA2/genética , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Proteína BRCA1/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Estudos de Associação Genética , Judeus/genética , Mutação , Predisposição Genética para Doença
18.
Isr Med Assoc J ; 25(7): 495-499, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37461176

RESUMO

BACKGROUND: In Israel, breast cancer prevalence is lower among Arab than Jewish women, but incidence is increasing among Arab women at a younger age. OBJECTIVES: To explore differences between Arab and Jewish women with breast cancer with respect to age at diagnosis, associated risk factors, and use of hormonal medications. METHODS: We conducted a retrospective database study comparing Arab and Jewish women with breast cancer focusing on age at diagnosis, smoking history, obesity, and previous hormonal medication usage, including oral combined contraceptive pills (OCCP), progestogens, hormonal medications for treatment of infertility, and hormone replacement therapy (HRT). RESULTS: The study included 2494 women who were diagnosed with breast cancer during 2004-2015. Age at diagnosis was lower among Arab women (50.7 ± 13.1 years vs. 55.4 ± 12.6 years, P < 0.0001). The rate of smoking was higher among Jewish women (16.0% vs. 4.3%, P < 0.0001). The rate of obesity was higher in Arab women older than 50 years at diagnosis (59.0% vs. 42.4%, P < 0.0001). Arab women demonstrated a lower overall chance of previous use of all types of hormonal medications (odds ratio [OR] 0.6, 95% confidence interval [95%CI] 0.6-0.8) compared to Jewish women. Arab women were more likely to have used progestogens (OR 1.7, 95%CI 1.4-2.2) and medications for treatment of infertility (OR 2.3, 95%CI 1.5-3.4) and less likely OCCP (OR 0.4, 95%CI 0.3-0.6) and HRT (OR 0.4, 95%CI 0.3-0.5). CONCLUSIONS: Previous use of hormonal medications may contribute to incidence of breast cancer in Arab women.


Assuntos
Árabes , Neoplasias da Mama , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Judeus , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/diagnóstico , Estudos Retrospectivos , Israel/epidemiologia , Progestinas , Obesidade/epidemiologia
19.
J Soc Work End Life Palliat Care ; 19(2): 150-167, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37273176

RESUMO

In Israel, as in other countries, the emotional and physical needs of minority populations receiving palliative care, are largely unknown. The ultra-Orthodox Jewish sector is one such minority population. This study's goal was to identify perceived social support, desire to receive information about illness and prognosis, and willingness to disclose information to others. Various measures assessing perception of social support, psychological symptoms and information disclosure were completed. Fifty-one women consented to participate; approximately 50% of participants had disclosed the diagnosis to their rabbi or a friend, in addition to their spouse. Almost all of the participants would want to be told if their condition were worsening (86.3%), yet only 17.6% reported that their doctor had discussed future care options if their health situation were to worsen. Overall, participants felt that the level of support they received was high and reported low levels of mental distress. This is the first known study regarding perceptions and needs of ultra-Orthodox Jewish women with advanced-stage cancer. Both diagnosis disclosure and palliative care options should be addressed and discussed with these patients so they may make important end-of-life decisions.


Assuntos
Judeus , Neoplasias , Humanos , Feminino , Judeus/psicologia , Judaísmo/psicologia , Cuidados Paliativos , Adaptação Psicológica
20.
Genet Med ; 25(9): 100846, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37061873

RESUMO

PURPOSE: Polygenic risk scores (PRSs) are a major component of accurate breast cancer (BC) risk prediction but require ethnicity-specific calibration. Ashkenazi Jewish (AJ) population is assumed to be of White European (WE) origin in some commercially available PRSs despite differing effect allele frequencies (EAFs). We conducted a case-control study of WE and AJ women from the Predicting Risk of Cancer at Screening Study. The Breast Cancer in Northern Israel Study provided a separate AJ population-based case-control validation series. METHODS: All women underwent Illumina OncoArray single-nucleotide variation (SNV; formerly single-nucleotide polymorphism [SNP]) analysis. Two PRSs were assessed, SNV142 and SNV78. A total of 221 of 2243 WE women (discovery: cases = 111; controls = 110; validation: cases = 651; controls = 1772) and 221 AJ women (cases = 121; controls = 110) were included from the UK study; the Israeli series consisted of 2045 AJ women (cases = 1331; controls = 714). EAFs were obtained from the Genome Aggregation Database. RESULTS: In the UK study, the mean SNV142 PRS demonstrated good calibration and discrimination in WE population, with mean PRS of 1.33 (95% CI 1.18-1.48) in cases and 1.01 (95% CI 0.89-1.13) in controls. In AJ women from Manchester, the mean PRS of 1.54 (1.38-1.70) in cases and 1.20 (1.08-1.32) in controls demonstrated good discrimination but overestimation of BC relative risk. After adjusting for EAFs for the AJ population, mean risk was corrected (mean SNV142 PRS cases = 1.30 [95% CI 1.16-1.44] and controls = 1.02 [95% CI 0.92-1.12]). This was recapitulated in the larger Israeli data set with good discrimination (area under the curve = 0.632 [95% CI 0.607-0.657] for SNV142). CONCLUSION: AJ women should not be given BC relative risk predictions based on PRSs calibrated to EAFs from the WE population. PRSs need to be recalibrated using AJ-derived EAFs. A simple recalibration using the mean PRS adjustment ratio likely performs well.


Assuntos
Neoplasias da Mama , Predisposição Genética para Doença , Judeus , Feminino , Humanos , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/etnologia , Neoplasias da Mama/genética , Estudos de Casos e Controles , Judeus/genética , Polimorfismo de Nucleotídeo Único , Fatores de Risco , População Branca/genética , Herança Multifatorial
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