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1.
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
2.
Lancet ; 403(10436): 1541-1542, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38608687

Assuntos
Judeus , Médicos , Humanos , Árabes
3.
Int Rev Psychiatry ; 36(1-2): 6-17, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38557336

RESUMO

Like most historical leaders, Israel's fourth prime minister, Golda Meir, is a controversial figure. Some consider her the worst prime minister in Israel's history, who was responsible for Israel's lack of preparedness for the Yom Kippur War, and others perceive her to be the only 'man' who stood in the way of Arabs' countries victory over Israel. Some view her to be conservative, not brilliant, dogmatic, masculine, and racist, and some others, as a simple, modest, warm, and empathetic woman. The authors bridge between these two conflicting views by employing theories of identity, culture, and gender role bias to investigate how Golda Meir's early age trauma caused by pogroms against Jews, cultural transition between Russia, the USA, and Mandatory Palestine, and serving as a powerful woman leader in an all-men political system, influenced her personal and political behaviour and her public image.


Assuntos
Clero , Feminismo , Feminino , Masculino , Humanos , Israel , Árabes , Judeus
4.
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
5.
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
6.
Med Hist ; 68(1): 60-85, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38505944

RESUMO

This article is the first scholarly research focusing exclusively on the history of Jews with disabilities in the Kingdom of Poland from the 1860s to 1914. It analyses sources drawn from the Jewish press in Yiddish, Polish, and Hebrew. Areas of investigation include the hierarchy of attitudes towards different categories of individuals with disabilities, spiritual perspectives on disability, and the portrayal of disabilities within Jewish literature. The study places particular emphasis on the Jewish deaf community, given the proliferation of available source material. Drawing on the broad conceptual framework of disability studies, the authors examine the phenomenon of medicalisation, tracing its influence on Jewish public discourse over the latter half of the nineteenth century and the early decades of the twentieth.


Assuntos
Pessoas com Deficiência , Judeus , Humanos , Judeus/história , Polônia
7.
Lancet Oncol ; 25(3): 284, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38342113
8.
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 , Humanos , Testes Genéticos/métodos , Feminino , Judeus/genética , Judeus/psicologia , Proteína BRCA2/genética , Proteína BRCA1/genética , Adulto , Pessoa de Meia-Idade , Neoplasias da Mama/genética , Neoplasias da Mama/etnologia , Neoplasias da Mama/psicologia , Masculino , Tomada de Decisão Clínica/métodos , Predisposição Genética para Doença/psicologia , Idoso , Pesquisa Qualitativa , New York
10.
BMC Public Health ; 24(1): 645, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38424536

RESUMO

BACKGROUND: Attention Deficit Hyperactivity Disorder (ADHD) is a common neuro-developmental health condition in children and adolescents, in which its associated behavior manifestations are known to negatively affect members of the family unit, especially mothers. Ultra-orthodox Jewish (UOJ) community is growing globally and mothers of children with ADHD in this community are potentially at risk for negative health outcomes. As the UOJ community is culturally conservative, maintaining a distinct separation from outside influences, they often avoid utilizing public mental health services due to stigma and a lack of culturally sensitive treatments. Thus, this study aimed to develop a theory-driven and culturally appropriate psychological health promotion intervention for these mothers using the Intervention Mapping protocol. METHODS: A mixed-method design was used. Qualitative content analysis was performed on four focus groups (n=25). Additionally, descriptive statistics including the content validity index was used to measure feedback regarding the developed intervention protocol's relevance, effectiveness, and appropriateness Theoretical models for behavior change, including the Behavior Change Wheel's COM-B system and the Theoretical Domains Framework, and literature on ADHD in the general population and the ultra-orthodox community were integrated in the process. Intervention components were systematically derived from findings. RESULTS: Key determinants of health behavior change were identified, resulting in formulating intervention objectives addressing stigma reduction surrounding ADHD, increasing knowledge about the ADHD condition and treatment, awareness of the school systems' capabilities in meeting the ADHD child's needs, enhancing mothers' advocacy skills, and maternal self-care. Intervention? strategies included a group setting, providing information on health consequences, social support, re-attribution, active learning, goal setting, and promoting an identity associated with the desired behavior change. Mothers' quantitative feedback confirmed the overall relevance, effectiveness, and appropriateness of the interventions' content (CVIavg= .86, .85, .87). CONCLUSIONS: Intervention Mapping facilitated the development of a culturally sensitive psychological health promotion intervention for ultra-orthodox Jewish mothers of children with ADHD. Further research is warranted to assess intervention feasibility and effectiveness.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Criança , Feminino , Adolescente , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Judeus , Mães/psicologia , Estigma Social , Promoção da Saúde
11.
Child Abuse Negl ; 149: 106602, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38194847

RESUMO

BACKGROUND: Religion is a significant cultural component that impacts child sexual abuse (CSA) in various ways, including its definition, perception, and treatment. This study focuses on the Jewish ultra-Orthodox community in Israel, a strictly religious, segregated, and close-knit community with unique cultural practices and beliefs that impact children's safety and vulnerability to CSA. OBJECTIVE: This qualitative study aimed to explore therapists' perceptions and ascribed meanings of CSA treatment within the ultra-Orthodox community. PARTICIPANTS AND SETTING: Thirty in-depth interviews were conducted with therapists working with the ultra-Orthodox community in Israel. METHODS: The interviews were analyzed using thematic qualitative analysis. RESULTS: Three central axes pertinent to the treatment of CSA in the ultra-Orthodox community were discovered: 1) religious interventions, 2) modest approach, relating to the community's taboo attitude towards sexuality; and 3) the collectivistic nature of the community. The results include specific effect sizes and their statistical significance. CONCLUSIONS: The discussion explores the findings in light of the literature on CSA among religious minority communities and connects them to the unique underlying perception of sexuality in the ultra-Orthodox community. Specific ramifications and recommendations for practice are then considered, alongside the limitations and directions for future study.


Assuntos
Abuso Sexual na Infância , Criança , Humanos , Abuso Sexual na Infância/terapia , Judaísmo , Judeus , Comportamento Sexual , Israel
12.
J Relig Health ; 63(1): 838-850, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38216833

RESUMO

The Ultra-Orthodox community in Israel is characterized by close everyday contact and a strong sense of community. While the COVID-19 pandemic has resulted in global uncertainty, fear, and fatalities, this group was particularly affected by the pandemic. Accordingly, the current study examines whether subjective nearness-to-death was associated with increased COVID-19 concerns, and whether Israeli identity and sense of community moderate this association. Data were gathered from 255 Israeli Ultra-Orthodox Jews, and results yielded a significant link between subjective nearness-to-death and COVID-19 worries, moderated by both moderators. Results are discussed in line with terror management theory, and theoretical/practical implications are suggested.


Assuntos
COVID-19 , Judeus , Humanos , Israel/epidemiologia , Pandemias , Coesão Social , Judaísmo
13.
Soc Work ; 69(2): 204-206, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38197245
14.
Alcohol Alcohol ; 59(1)2024 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-38211581

RESUMO

INTRODUCTION: Previous studies in Izhevsk, Novosibirsk, and Kazan have found that non-beverage alcohol is a large part of alcohol consumption in Russia. Whereas those places are relatively high-income cities, there are no studies about such a problem in low-income regions of Russia. The aim of this study is to investigate correlates and factors associated with non-beverage alcohol consumption in eastern regions of Russia, e.g. the Jewish Autonomous Oblast and to assess effectiveness of implementing Russian policies to restrict consumption of non-beverage alcohol. MATERIALS AND METHODS: A survey of adults in the Jewish Autonomous Oblast of Russia was performed on workdays to assess non-beverage drinking patterns in summer 2022. The questionnaire included questions about socio-demographic status and alcohol use, including non-beverage alcohol consumption and drinking patterns. We use logistic regression to identify risk factors of consuming non-beverages. RESULTS: First, ~30% of individuals suffering from alcohol problems drink non-beverage alcohol. Second, those who regularly consume non-beverage alcohol compared with those who chronically drink legal strong alcohol are on average more likely to experience the negative effects of alcohol consumption. Third, income and marriage are the main factors negatively associated with surrogate alcohol consumption. Besides, age shows a curvilinear relationship with that. CONCLUSIONS: We suggest that a modified anti-surrogate policy to increase the minimum price of pharmacy alcohol and to enforce restrictions on the sale of non-beverage alcohol is needed in Russia. Such measures could prevent an increase in non-beverage alcohol consumption in Russia against the backdrop of declining real incomes of the population.


Assuntos
Transtornos Relacionados ao Uso de Álcool , Judeus , Adulto , Humanos , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/efeitos adversos , Fatores de Risco , Pobreza , Federação Russa/epidemiologia
15.
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
16.
Harefuah ; 163(1): 17-20, 2024 Jan.
Artigo em Hebraico | MEDLINE | ID: mdl-38297414

RESUMO

INTRODUCTION: MEDICAL STUDIES IN EXTREME SITUATION: THE SCHOOL OF MEDICINE IN WARSAW GHETTO.


Assuntos
Judeus , Áreas de Pobreza , Humanos , Instituições Acadêmicas
17.
Psychol Trauma ; 16(1): 1-9, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36931842

RESUMO

OBJECTIVE: Hundreds of thousands of people around the world have lost their lives to intergroup violence (IV) over the past two decades. The current study tested a multifactor ecological model, including societal (exposure to trauma), social (exposure to community violence, and conflict with parents), and individual (exposure to microaggression) factors for engagement in IV in two samples of Israeli youths, Jewish (N = 306), and Arab (N = 302). METHOD: Participants filled out self-report questionnaires assessing exposure to trauma, community violence, conflict with parents, microaggression, and engagement in IV. RESULTS: The results showed that Arab youths who indicated higher levels of religiosity and reported experiencing more traumatic events, community violence, and microaggression were more likely to perpetrate IV (OR = 1.31, 1.39, 1.5, 2.28, respectively). Jewish youths who reported exposure to more traumatic events, more conflict with parents, and greater exposure to microaggression events were more likely to perpetrate IV (OR = 2.28, 2.70, 3.25, respectively). CONCLUSION: The current study illuminates the similarities (traumatic events and microaggression) and the differential associations of individual, social, and societal factors and IV among Jewish and Arab youths. Microaggression emerged as the strongest predictor for IV in both groups. These findings highlight the need to inform ecological interventions aimed at mitigating IV in a context-sensitive manner. (PsycInfo Database Record (c) 2023 APA, all rights reserved).


Assuntos
Árabes , Judeus , Humanos , Adolescente , Israel , Violência , Inquéritos e Questionários
18.
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
19.
Ethn Health ; 29(2): 220-238, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37938146

RESUMO

OBJECTIVES: Depression is a major public health concern due to its high prevalence and association with functioning. Ethnic minorities in Western countries are more likely to experience economic disadvantage and exposure to stressors that may put them at higher risk of developing depression. One major protective factor associated with reduced depressive symptoms is an existing support network. This study examined the associations between economic disadvantage, formal and informal social support, and depressive symptoms among two ethnicity groups in Israel: Arab and Jewish mothers of young children, as well as the potential mediating role of formal and informal social support in the associations between economic disadvantage and depressive symptoms. DESIGN: We recruited a representative sample of 837 Jewish and Arab mothers of children aged 2-6 years. We collected data via structured face-to-face interviews following approval of the university ethic committee. We used the Center for Epidemiologic Studies Depression Scale (CES-D), the Medical Outcomes Study (MOS) scale to measure maternal perceived social support, and a measure designed for this study to quantify formal social support. RESULTS: Compared to the Jewish mothers, Arab mothers reported more depressive symptoms, greater economic disadvantage, and fewer informal and formal support networks. Economic disadvantage was negatively associated with informal support but positively associated with formal support among both Jewish and Arab mothers. Results further revealed that informal and formal social support mediated the associations between economic disadvantage and symptoms of depression. CONCLUSIONS: More attention should be paid to the associations between social determinants and mothers' mental health, with a possible shift of focus to macro-level factors, such as economic inequality and minority status.


Assuntos
Árabes , Depressão , Criança , Feminino , Humanos , Pré-Escolar , Árabes/psicologia , Depressão/psicologia , Israel/epidemiologia , Judeus/psicologia , Apoio Social
20.
J Med Genet ; 61(3): 289-293, 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-37833060

RESUMO

BACKGROUND: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented. METHODS: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals. RESULTS: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in SGSM3 gene. The variant was predicted to cause a loss of function, potentially leading to impaired protein structure or function. The variant co-segregated with the disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional prevalent phenotypes observed included hypotonia, behavioural challenges and short stature. CONCLUSIONS: An Ashkenazi Jewish homozygous founder variant in SGSM3 was discovered in individuals with NDDs and short stature. This finding establishes a connection between another member of the RAS family and NDDs. Additional research is needed to uncover the specific molecular mechanisms by which SGSM3 influences neurodevelopmental processes and the regulation of growth.


Assuntos
Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Humanos , Deficiência Intelectual/genética , Judeus/genética , Homozigoto , Síndrome
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