A5017807983- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Family Support in Illness
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Parkinson's Disease Mechanisms and Treatments
- Ovarian cancer diagnosis and treatment
- Inflammasome and immune disorders
- CRISPR and Genetic Engineering
- Health Systems, Economic Evaluations, Quality of Life
- Cancer survivorship and care
- Palliative Care and End-of-Life Issues
- Prenatal Screening and Diagnostics
- Emergency and Acute Care Studies
- Lysosomal Storage Disorders Research
- Nutrition, Genetics, and Disease
- Nematode management and characterization studies
- Complex Systems and Decision Making
- Male Breast Health Studies
- Ocular Diseases and Behçet’s Syndrome
- Medication Adherence and Compliance
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
University of Haifa
2015-2025
University of Padua
2022
Rambam Health Care Campus
2004-2014
Max Planck Institute for Psycholinguistics
2014
Policlinico S.Orsola-Malpighi
2014
Medica (Italy)
2014
Technion – Israel Institute of Technology
1997-2013
Meyer Children's Hospital
2013
Carmel (Israel)
2010
Rappaport Family Institute for Research in the Medical Sciences
2006
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well neuronal phenotype EPG5 knock-down Drosophila melanogaster. identified 39 different mutations, most them truncating predicted result reduced protein. Most were private, but three recurrent (p.Met2242Cysfs*5, p.Arg417*, p.Gln336Arg) indicated...
BRCA1 and BRCA2 carriers are at increased risk for both breast ovarian cancer, but estimates of lifetime vary widely, suggesting their penetrance is modified by other genetic and/or environmental factors. The proteins function in DNA repair conjunction with RAD51. A preliminary report suggested that a single nucleotide polymorphism the 5' untranslated region RAD51 (135C/G) increases cancer carriers. To investigate this effect we studied 257 female Ashkenazi Jewish one common (185delAG,...
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased risks in the general population. In a previous study, we demonstrated minor alleles at three these SNPs, FGFR2, TNRC9 and MAP3K1, also confer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 LSP1, rs13387042 2q35 rs13281615 8q24 since been reported to be population, this study evaluated their risk 9442 5665 carriers from 33...
Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses the most numerous trained healthcare professionals worldwide and can play a key role addressing continuum of care. ACCESS is an empirically-based theoretical framework guide clinical practice order ameliorate disparities.
Inherited mutations in BRCA1 and BRCA2 lead to significantly increased risks of breast ovarian cancer. We used epidemiologic methods evaluate the relative cancer vs. among women Ashkenazi Jewish ancestry with inherited or BRCA2. The a family's index case (i.e., cancer) was associated site-specific relatives known carry Specifically, were higher cases compared [hazard ratio (HR) = 3.0, P < 0.001 for carriers HR 4.8, 0.017 carriers], (HR 7.2, 15.8, 0.018 carriers). Breast also more recent...
In view of the fact that cancer patterns in patients with Parkinson disease (PD) differ from general population, we aimed to verify whether PD LRRK2 mutations have an increased risk for particular types.In this cross-sectional study, eligible consenting Jewish were genotyped predominant G2019S mutation. Oncologic data obtained by personal interview and reviewing patients' files. Stepwise logistic regression was applied model probability occurrence carriers vs noncarriers.Overall, 79/490...
Abstract Purpose To explore the association of genomic knowledge, self‐epistemic authority (SEA; i.e., subjective perception knowledge expertise), perceived importance genomics in nursing, and integration skills into nursing practice. Design A cross‐sectional study nurses working pediatric, obstetric, internal wards two medical centers Israel between February October 2018. Methods Participants completed anonymous questionnaires about SEA, genomics, performance Associations variables were...
In Ashkenazi (East European) Jews, three predominant mutations in BRCA1 (185delAG and 5382insC) BRCA2 (6174delT) account for the majority of germline high-risk breast and/or ovarian cancer families. Among non-Ashkenazi 185delAG, Tyr978Ter, a handful "private" have been reported anecdotally within both genes. this study we attempted to determine spectrum Jewish individuals, non-carriers any mutations. We employed multiplex PCR denaturing gradient gel electrophoresis (DGGE) analysis BRCA2,...
Background: Hereditary breast and ovarian cancer Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals HBOC or LS is a public health intervention prevention. Yet, little known about the utility value information gained from testing. This paper discusses ELSI encountered during implementation in three countries national healthcare systems: Switzerland, Korea, Israel. Methods: A workshop presented...
From caring to managing and beyond: an examination of the head nurse's role Aim. The aim this study was depict essence what nurses do, how they perform their managerial role. Methods. To achieve this, work behaviour 48 examined by a semi‐structured observation technique for 6 hours each. Results. Results demonstrated that spent large proportion time in clinical practice, followed co‐ordinating care, operating unit's functions, leading staff. Personnel management quality improvement occupied...
The objective of this study was to examine cognitive, emotional, and behavioral impacts testing for germline mutations in breast/ovarian cancer-associated genes (BRCA1/BRCA2) among men who undergo genetic testing.A cross-sectional compared 51 mutation carriers with 30 tested negative the both genes. Telephone interviews were conducted all participants at a median 4 years after disclosure test results counseling context. Testing-related distress, cancer risk perceptions, perceived changes...
The effect of pregnancy and lactation on GABAA receptor central peripheral-type benzodiazepine receptors (CBR PBR, respectively) was studied in female Sprague-Dawley rats. Pregnancy associated with increased CBR density (on day 19) the hippocampus decreased [3H]Ro 15-1788-specific binding hypothalamus during lactation. A similar decrease [3H]PK 11195-specific observed pituitary. An increase PBR ovary uterus pregnancy, while adrenal down-regulated It seems that hormonal changes occurring play...