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https://www.readbyqxmd.com/read/28635412/gamete-donors-reasons-for-and-expectations-and-experiences-of-registration-with-a-voluntary-donor-linking-register
#1
Eric Blyth, Marilyn Crawshaw, Lucy Frith, Olga van den Akker
This paper reports on a study of the views and experiences of 21 sperm donors and five egg donors registered with UK DonorLink (UKDL), a voluntary DNA-based contact register established to facilitate contact between adults who wish to identify and locate others to whom they are genetically related following donor conception. Specifically, the paper examines donors' reasons for searching for, or making information about themselves available to donor-conceived offspring. Their expectations of registration with UKDL, experiences of being registered and finally, the experiences of those who had contacted donor-conceived offspring and other genetic relatives are investigated...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#2
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28633748/multiple-papulonodular-lesions-on-central-area-of-the-face-what-is-your-diagnosis
#3
Margarida Rato, Ana Filipe Monteiro, João Aranha, Ermelindo Tavares
A healthy 31-year-old woman presented with a 20-year history of asymptomatic skin-colored papules and nodules on the central area of the face. Her maternal grandmother, aunts, mother, and sister also had similar lesions. Clinical, histopathological, and genetic features allowed the diagnosis of multiple familial trichoepithelioma. The patient and family were referred to the genetic department for genetic counselling. Close follow-up for the possibility of secondary basal cell carcinoma is warranted.
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28625311/cancers-de-l%C3%A2-ovaire-brca-mut%C3%A3-consultation-d%C3%A2-oncog%C3%A3-n%C3%A3-tique-et-prescription-des-inhibiteurs-de-parp
#4
Laurence Gladieff, Dominique Stoppa Lyonnet, Alain Lortholary, Alexandra Leary, Catherine Genestie, Isabelle Ray-Coquard
GENETIC COUNSELING AND PARP INHIBITORS PRESCRIPTION: Upon the availability of the PARP inhibitors in relapsed ovarian carcinoma, the pathways of the oncogenetic counseling were modified. Any research for a constitutional alteration of the BRCA1 and BRCA2 genes must be accompanied by an oncogenetic counseling. BRCA testing is recommended from the diagnosis to every woman with an ovarian or fallopian tube or peritoneum of high grade adenocarcinoma, whatever the age at the diagnosis and her family history. In case of sensitive relapse or potential inclusion in a clinical trial and in the absence of preliminary constitutional research, the oncogenetic counseling is organized according to a fast track pathway and a somatic analysis can be realized in parallel...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28623555/goldenhar-syndrome-current-perspectives
#5
REVIEW
Katarzyna Bogusiak, Aleksandra Puch, Piotr Arkuszewski
BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia...
June 15, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28622254/genetic-counseling-for-hereditary-cancer-a-primer-for-nps
#6
(no author information available yet)
No abstract text is available yet for this article.
July 15, 2017: Nurse Practitioner
https://www.readbyqxmd.com/read/28621560/the-risks-associated-with-prenatal-antidepressant-exposure-time-for-a-precision-medicine-approach
#7
Lars Henning Pedersen
Introduction The prevalence of depression in pregnancy is over 10% and a significant proportion of pregnant women use antidepressant medication. The safety of antidepressants in pregnancy is controversial, partly due to methodological challenges. The conflicting results in the literature may, however, also be due to differences in risks between the study populations related to variations in e.g. degree of depression, type of antidepressant, and lifestyle. Areas covered The literature on the safety of antidepressants in pregnancy is vast and thousands of papers have been published mainly in the last decades...
June 16, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#8
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#9
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#10
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#11
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28616832/-if-it-helps-it-s-worth-a-try-an-investigation-of-perceptions-and-attitudes-about-genetic-counseling-among-southern-manitoba-hutterites
#12
Amber P Gemmell, Patricia McCarthy Veach, Ian MacFarlane, Rachel Riesgraf, Bonnie S LeRoy
Few studies have explored the public's views of genetic counseling services, and even fewer focus on founder populations with high prevalence of genetic disease, such as Hutterites. The Hutterites are an Anabaptist religious group grounded in a strong Christian faith. The primary aim of this study was to assess Hutterites' views of genetic counseling services. A secondary aim was to compare their views to those obtained in a study of rural Midwestern U.S. residents (Riesgraf et al., Journal of Genetic Counseling, 24(4), 565-579, 2015)...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616830/the-efficacy-of-genetic-counseling-for-psychiatric-disorders-a-meta-analysis
#13
Ramona Moldovan, Sebastian Pintea, Jehannine Austin
Psychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616458/malignant-brenner-tumor-associated-with-a-germline-brca2-mutation
#14
Michael D Toboni, Haller J Smith, Sarah E Dilley, Lea Novak, Charles A Leath
•The first woman with a Malignant Brenner tumor and a BRCA2 mutation is described.•Not all women with epithelial ovarian cancers are referred for genetic counseling.•Women should be referred for genetics regardless of how rare the histology.
August 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28613942/attitudes-toward-genetic-counseling-and-testing-in-patients-with-inherited-endocrinopathies
#15
Thomas M Gallagher, Maura Bucciarelli, Sandra L Kavalukas, Maria J Baker, Brian D Saunders
OBJECTIVE: Inherited endocrinopathies are rare tumor predisposition syndromes associated with significant morbidity and mortality and have implications for both patients and their families. Prior studies suggest that early diagnosis of inherited endocrinopathies may reduce morbidity and mortality. Although genetic counseling and testing can help inform the appropriate management of at-risk relatives, barriers to care still exist. We explored patient perceptions to identify barriers and promote the uptake of genetic counseling...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28612151/the-genetics-journey-a-case-report-of-a-genetic-diagnosis-made-30-years-later
#16
Linford A Williams, Shane C Quinonez, Wendy R Uhlmann
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family's clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p...
June 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28611551/first-two-cases-of-bloom-syndrome-in-russia-lack-of-skin-manifestations-in-a-blm-c-1642c-t-p-q548x-homozygote-as-a-likely-cause-of-underdiagnosis
#17
Evgeny N Suspitsin, Farida I Sibgatullina, Lydia V Lyazina, Evgeny N Imyanitov
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28610746/a-universal-genetic-testing-initiative-for-patients-with-high-grade-non-mucinous-epithelial-ovarian-cancer-and-the-implications-for-cancer-treatment
#18
Erica M Bednar, Holly D Oakley, Charlotte C Sun, Catherine C Burke, Mark F Munsell, Shannon N Westin, Karen H Lu
OBJECTIVE: Genetic counseling (GC) and germline genetic testing (GT) for BRCA1 and BRCA2 are considered standard of care for patients with high-grade, non-mucinous epithelial ovarian, fallopian tube, and primary peritoneal cancers (HGOC). We describe a universal genetic testing initiative to increase the rates of recommendation and acceptance of GC and GT to >80% for patients with HGOC at our institution. METHODS: Data from a consecutive cohort of patients seen in our gynecologic oncology clinics between 9/1/2012 and 8/31/2015 for evaluation of HGOC were retrospectively analyzed...
June 10, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28608970/effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years
#19
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
OBJECTIVE: To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies. METHODS: The present observational study examined data from genetic counseling sessions performed at the 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary, between September 1, 2013, and September 1, 2015, and retrieved data on patients of advanced maternal age (≥35 years) who had fetal trisomy 21, 18, or 13 confirmed...
June 13, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#20
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
May 22, 2017: International Journal of Cardiology
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