Harefuah最新文献

{"title":"[OTONEUROLOGY- A MULTIFACETED FIELD].","authors":"Ronen Perez","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Otoneurology is a broad, diverse and multidisciplinary field. On the one hand, it includes everything that relates to hearing: from complex surgery including life-changing implants to effective medical treatments and habilitation. On the other hand, it includes all that has to do with balance, from novel vestibular tests to complex medical treatments and recently, the development of a vestibular implant for patients suffering from bilateral peripheral vestibular loss. This special issue on otoneurology includes 8 original papers and 3 reviews. The first three articles deal with auditory implants. The first describes a series of children who underwent auditory brainstem implantation, including the first implantation in Israel 6 years ago. The second, presents patients with acoustic schwannomas undergoing cochlear implantation and the third relates to patients with Meniere's disease. Cochlear implants are one of the most significant developments in medicine in recent decades that enable most deaf individuals to hear, and develop normal language, heavily influencing all aspects of personal development and social integration.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 7","pages":"410-412"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10326944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[THE DIFFERENTIAL DIAGNOSIS OF EXTREMELY HIGH MATERNAL SERUM ALPHA FETOPROTEIN - A CASE REPORT].","authors":"Hadas Allouche Kam,&nbsp;Dov Popper,&nbsp;Elias Castel,&nbsp;Simcha Yagel,&nbsp;Hagit Daum","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>A 34 years-old woman was referred to genetic counseling due to extremely high maternal serum alpha fetoprotein (MSAFP) of 58 MoM (541 IU/mL, 654 ng/mL) in the second trimester biochemical test. The couple has five healthy children, three of them were delivered by cesarean section. Current pregnancy follow-up was uneventful except for the demonstration of placenta percreta during anomaly scan. The test also ruled out neural tube or abdominal wall defect. AFP levels in amniotic fluid were normal thus fetal disease was ruled out as the etiology. Total body MRI ruled out space occupying lesion as a source of ectopic secretion of AFP. After exclusion of other ominous etiologies for this extremely high MSAFP, it was related to the placental pathology and probably to abnormal feto-maternal shunts. Fetal fraction in cell free DNA was 18%, considered relatively high, a hint for those speculated shunts. We reviewed the literature regarding the differential diagnosis of high MSAFP including fetal, maternal and placental sources.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"366-369"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].","authors":"Julia Grinshpun-Cohen,&nbsp;Rachel S Marans,&nbsp;Amihood Singer","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>PEBAT (Progressive Encephalopathy, Early-Onset, with Brain Atrophy and Thin Corpus Callosum) is a rare disease characterized by a significant and progressive, neurological deficit. The disease has autosomal recessive etiology and is caused by bi-allelic variants in the gene TBCD (Tubulin-Specific Chaperone D). In 2017 the disease was diagnosed in two sisters from Jewish Cochin ethnicity (originating in Karela in south India) in Israel. Genetic testing for the girls revealed the homozygous TBCD variant c.1423G>A (p.Ala475Thr). This variant was reported simultaneously in another unrelated patient of Cochin origin.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"359-361"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[INHERITED COLORECTAL CANCER - UPDATED REVIEW].","authors":"Aasem Abu Shtaya,&nbsp;Yael Goldberg","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Significant progress has been achieved in recent years in the field of cancer genomics. The advancement in genomic technologies, molecular pathology and genetic testing, led to the discovery of novel genetic-hereditary factors, associated with colorectal cancer (CRC). There are currently ~20 identified genes that are linked to a higher risk of developing CRC; some of these genes are also linked to polyposis. The most prevalent hereditary syndrome to cause CRC is Lynch syndrome; its prevalence is believed to be 1:300 worldwide. Clinical data such as the age of onset, ancestry, number of polyps, histological features, molecular characteristics of the tumor and benign findings in other bodily systems, can be used to support the notion that the ailment is hereditary.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"393-400"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10127425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[HOW SIMPLE IS \"SIMPLE\" GENETIC COUNSELING?]","authors":"Moran Echar,&nbsp;Amir Peleg,&nbsp;Amalia Harari-Shacham,&nbsp;Shirley Modan,&nbsp;Lena Sagi-Dain","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic counselors are often compared with other medical professionals in terms of productivity, based on the number of patients seen and the time required for each patient. Prenatal genetic counseling before amniocentesis in uneventful pregnancies is considered to be a \"simple\" counseling, with potentially less time required for each patient. Thus, in some medical centers the duration of such consultations is limited to provide only the basic explanation without detailed collection of personal and family history, while in others the explanation is given to several patients together.</p><p><strong>Aims: </strong>To assess the need for extended genetic counseling during supposedly \"simple\" genetic consultations before amniocentesis.</p><p><strong>Methods: </strong>Data was collected from January 2018 until August 2020 of all patients undergoing genetic counseling before amniocentesis due to advanced maternal age, abnormal biochemical screening, or without medical indication. The consultations were given by four genetic counselors and two medical geneticists. The need for extended genetic counseling was evaluated based on pedigree and the discussion summaries and recommendations noted in genetic counseling summaries.</p><p><strong>Results: </strong>Of the 1085 relevant counseling appointments, 657 (60.5%) required additional explanation beyond the basic consultation. The reasons for extended counseling included medical disorders of the woman or spouse (21.2%), carrier state for autosomal recessive diseases (18.6%), diagnosed or suspected genetic conditions of a child or previous pregnancy (9.6%), or medical disorders in the extended family (79.1%). In 31.0% of patients, recommended carrier screening tests were recommended or added. In 32.3% of cases, only one extra subject was counseled, in 16.3% two subjects, and in 5%, three subjects or more. The additional explanations were estimated as short (up to 5 minutes) in 36.9% of the cases, intermediate (5 to 15 minutes) in 59.9%, and long (over 15 minutes) in 2.6% of cases. The consultation's duration was not affected from it being a first meeting or a recurrent consultation.</p><p><strong>Conclusions: </strong>The need for further explanation was demonstrated in over 60% of genetic consultations, performed prior to amniocentesis due to supposedly \"simple\" indication.</p><p><strong>Discussion: </strong>This fact reflects the importance of formal genetic counseling even in cases of seemingly simple indications, with an emphasis on detailed personal and family history, dedicating sufficient time to the counseling itself. Alternatively, it is important to exercise extra caution when conducting a short explanatory conversation prior to amniocentesis, including detailed questionnaires and the patient's signature on the possible limitations of such explanations.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"381-385"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[CHARACTERIZATION OF THE INDICATIONS FOR PERFORMING GENE PANEL SEQUENCING TESTS IN A GENOMIC CENTER].","authors":"Rotem Greenberg,&nbsp;Ofer Isakov,&nbsp;Shay Ben Shahar,&nbsp;Lena Sagi-Dain","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Following the recent human genome revolution, novel technologies have been developed in the last decade enabling advanced sequencing tests, including genetic panel tests that focus on groups of specific genes associated with a certain medical condition (phenotype). Since the process of assembling a genetic panel may be complex and requires significant manpower and time, it is important to define the most common and requested panels, for gradual construction and introduction of panel tests starting with the most common.</p><p><strong>Aims: </strong>Since no information was found in the literature defining the common panels, the aim of the study was to define the indications for performing a gene panel within the framework of the provided services, and to estimate their frequency.</p><p><strong>Methods: </strong>Prospective data acquisition was performed by a party responsible for approval of panel tests within Clalit Health Services Organization. The indications for all approved panel tests were registered since the launch of Clalit's Genomic Center. The total number of indications was counted, and according to the Pareto principle, 20% of the most frequent indications were chosen. In addition, the indications were divided into main medical disciplines.</p><p><strong>Results: </strong>Overall, 132 indications were recorded for approved gene panel tests; 20% of these indications, i.e. the first 26 indications in terms of frequency, covered 79.6% of the cases. The most frequent approved panels were epilepsy (10.4%, confidence interval (CI) 8.5-12.6%), Maturity-onset diabetes of the young (MODY) (9.6%, CI 7.8-11.7%), cardiomyopathy (8.3%, CI 6.6-10.3%) and hearing impairment (7.6%, CI 6.0-9.6%). The most common disciplines in descending order were neurological diseases (23.0%, CI 20.3-25.9%), endocrinology (13.1%, CI 11.1-15.6%), heart diseases (9.0%, CI 7.3-11.1%) and eye diseases (7.8%, CI 6.2-9.8%).</p><p><strong>Conclusions: </strong>A review of panel approvals at the Genomic Center of Clalit showed a number of frequent indications.</p><p><strong>Discussion: </strong>We believe this information can be useful for the establishment of genomic laboratories, as well as for the improvement of the service to the patients, by enabling the referral for specific panel tests by medical experts who are not geneticists or genetic counselors, after appropriate training (such as the \"Genetics First\" program of Clalit).</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"376-380"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9750417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].","authors":"Rachel Michaelson-Cohen,&nbsp;Yael Laitman,&nbsp;Inbal Kedar,&nbsp;Hagit Baris-Feldman,&nbsp;Orit Reish,&nbsp;Sari Lieberman,&nbsp;Rinat Bernstein-Molho,&nbsp;Yael Goldberg,&nbsp;Gili Reznick Levi,&nbsp;Ruth Gershoni,&nbsp;Uzi Beller,&nbsp;Ephrat Levy-Lahad,&nbsp;Raphael Catan,&nbsp;Eitan Friedman","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Aims: </strong>To assess genotype phenotype correlations of recurring BRCA PVs in Israeli carriers.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"370-375"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].","authors":"Marina Eskin-Schwartz,&nbsp;Elena Mashkit,&nbsp;Ohad S Birk","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Piebaldism is the dominantly inherited skin disorder clinically characterized by congenital stable and well circumscribed patches of leukoderma (depigmented skin) of ventral distribution, involving central forehead, frontal chest and abdomen and central portion of limbs, and by localized poliosis (white hair). Inherited or de novo mutations in proto-oncogene KIT, encoding the transmembrane tyrosine kinase receptor c-kit, underly the majority of piebaldism cases. Piebaldism is a disorder characterized by incomplete penetrance and variable expressivity.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"362-365"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].","authors":"Nadra Nasser Samra,&nbsp;Ilham Morani,&nbsp;Hino Bayan,&nbsp;Doua Bakry,&nbsp;Munia Shaalan,&nbsp;Hadi Saadi,&nbsp;Sara Beni Shrem,&nbsp;Alaa Sawaed,&nbsp;Gautam Kok,&nbsp;Irena J Muffels,&nbsp;Sabine A Fuchs,&nbsp;Mika Shapira-Rootman,&nbsp;Hagar Mor-Shaked,&nbsp;Hanna Mandel","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Inborn-Errors of Metabolism (IEM) are genetic disorders resulting from mutations in genes encoding proteins involved in biochemical-metabolic pathways. However, some IEMs lack specific biochemical markers. Early incorporation of next-generation-sequencing (NGS) including whole exome sequencing (WES) into the diagnostic algorithm of IEMs herein provided, increases diagnostic accuracy, permits genetic counseling and improves therapeutic options. This is exemplified by diseases affecting aminoacyl-tRNA synthetases (ARSs), enzymes involved in protein translation. Recent studies showed that supplementing amino-acids to cell-culture and patients with ARSs deficiencies resulted in improvement of biochemical and clinical parameters, respectively.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"344-351"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[ADVANCES AND CHALLENGES IN THE FIELD OF GENETIC TESTING - AN INTRODUCTORY ARTICLE].","authors":"Lena Sagi-Dain","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>In the current issue of Harefuah, we present original research articles and reviews, reflecting the tremendous development of the field of genetic testing. This progress provides extensive tools for determining genetic diagnoses, thereby enabling detailed explanation for patients and their family members regarding the specific genetic disorder, adjustment of medical evaluation and follow-up, and allowing informed decision-making during pregnancy. Furthermore, there are advances in the assessment of recurrence of risks among members of the extended family, including future pregnancies, with a possibility of prenatal diagnosis and pre-implantation genetic testing.</p>","PeriodicalId":12965,"journal":{"name":"Harefuah","volume":"162 6","pages":"340-343"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}