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https://www.readbyqxmd.com/read/29774539/clinical-and-molecular-characterization-of-indian-patients-with-fructose-1-6-bisphosphatase-deficiency-identification-of-a-frequent-variant-e281k
#1
Pratibha Bhai, Sunita Bijarnia-Mahay, Ratna D Puri, Renu Saxena, Deepti Gupta, Udhaya Kotecha, Anil Sachdev, Dhiren Gupta, Vyomesh Vyas, Divya Agarwal, Vivek Jain, Rajeev K Bansal, Tapisha G Kumar, Ishwar Chander Verma
Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available...
May 18, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29774447/infertility-in-the-aging-male
#2
REVIEW
Daniel J Mazur, Larry I Lipshultz
PURPOSE OF REVIEW: In many countries, the average age of paternity is rising. The negative effect of older age on fertility in women is well documented; however, less is known about the impact of paternal age on fecundity. In this review, we summarize the current knowledge of how paternal age affects semen parameters, reproductive success, and offspring health. RECENT FINDINGS: Contemporary evidence confirms that aged men have worse semen parameters, including overall negative changes in sperm genetics...
May 17, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#3
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29771170/cgh-array-and-karyotype-as-complementary-tools-in-prenatal-diagnosis-prenatal-diagnosis-of-a-4q-derivative-chromosome-from-maternal-4q-11q-translocation
#4
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29771000/molecular-testing-in-holoprosencephaly
#5
Paul Kruszka, Ariel F Martinez, Maximilian Muenke
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29770996/prenatal-diagnosis-of-holoprosencephaly
#6
Youssef A Kousa, Adré J du Plessis, Gilbert Vezina
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29770910/creation-and-implementation-of-an-environmental-scan-to-assess-cancer-genetics-services-at-three-oncology-care-settings
#7
Erica M Bednar, Michael T Walsh, Ellen Baker, Kimberly I Muse, Holly D Oakley, Rebekah C Krukenberg, Cara S Dresbold, Sandra B Jenkinson, Amanda L Eppolito, Kelly B Teed, Molly H Klein, Nichole A Morman, Elizabeth C Bowdish, Pauline Russ, Emaline E Wise, Julia N Cooper, Michael W Method, John W Henson, Andrew V Grainger, Banu K Arun, Karen H Lu
An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS...
May 16, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29770616/prevalence-of-germline-brca-mutations-among-women-with-carcinoma-of-the-peritoneum-or-fallopian-tube
#8
Min Chul Choi, Jin Sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji Ho Kim, Ki Chan Lee, Sunghoon Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records...
March 26, 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29770117/clinical-application-of-epilepsy-genetics-in-africa-is-now-the-time
#9
Alina I Esterhuizen, Gemma L Carvill, Rajkumar S Ramesar, Symon M Kariuki, Charles R Newton, Annapurna Poduri, Jo M Wilmshurst
Over 80% of people with epilepsy live in low- to middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults, and traumatic brain injury. Despite the high incidence of these etiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29769627/clinical-and-functional-characterization-of-the-cdh1-germline-variant-c-1679c-g-in-three-unrelated-families-with-hereditary-diffuse-gastric-cancer
#10
Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo, João Miguel Sanches, Antonio Sánchez-Ruiz, Luis Robles, Raquel Seruca, Miguel Urioste
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-cadherin, the protein encoded by CDH1, and to predict their clinical significance. Herein, we have identified a recurrent germline missense variant, c.1679C>G, segregating with gastric cancer in three unrelated Spanish families...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29769598/germline-mutation-in-the-tp53-gene-in-uveal-melanoma
#11
Nikola Hajkova, Jan Hojny, Kristyna Nemejcova, Pavel Dundr, Jan Ulrych, Katerina Jirsova, Johana Glezgova, Ivana Ticha
We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic BAP1 mutation was detected together with germline missense variants of uncertain significance in ATM. All cases carried recurrent activating GNAQ or GNA11 mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on TP53 coding region...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#12
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29768628/androgen-insensitivity-syndrome-a-review
#13
Rafael Loch Batista, Elaine M Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria, Mirian Y Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29766486/risk-communication-in-genetic-counselling-exploring-uptake-and-perception-of-recurrence-numbers-and-their-impact-on-patient-outcomes
#14
K Borle, E Morris, A Inglis, J Austin
Providing recurrence numbers is often considered a fundamental component of genetic counselling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counselling Outcomes Scale [GCOS, measuring empowerment] pre (T1)/post (T2)-appointment. Using ANCOVA we evaluated the effect on T2 GCOS score of: a) receiving recurrence numbers, and b) patient perception of recurrence numbers...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#15
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29760947/incorporating-epilepsy-genetics-into-clinical-practice-a-360%C3%A2-evaluation
#16
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller, Deb K Pal
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29760937/a-novel-mlh1-intronic-variant-in-a-young-japanese-patient-with-lynch-syndrome
#17
Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Takuma Oishi, Masato Abe, Sumiko Ohnami, Akane Naruoka, Masatoshi Kusuhara, Ken Yamaguchi
Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice for surveillance and genetic counseling of patients and their relatives.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29760927/is-sperm-fish-analysis-still-useful-for-robertsonian-translocations-meiotic-analysis-for-23-patients-and-review-of-the-literature
#18
Anna Lamotte, Guillaume Martinez, Françoise Devillard, Jean-Pascal Hograindleur, Véronique Satre, Charles Coutton, Radu Harbuz, Florence Amblard, James Lespinasse, Mehdi Benchaib, Julien Bessonnat, Sophie Brouillet, Sylviane Hennebicq
Background: Robertsonian translocations (RobT) are common structural chromosome rearrangements where carriers display a majority of chromosomally balanced spermatozoa from alternate segregation mode. According to some monotony observed in the rates of balanced segregation, is sperm FISH analysis obsolete for RobT carriers? Methods: Retrospective cohort research study on 23 patients analyzed in our center from 2003 to 2017 and compared to the data of 187 patients in literature from 1983 to 2017...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29760616/high-frequency-of-primary-hereditary-ichthyoses-in-the-north-east-region-of-cairo-egypt
#19
Nermine El-Sayed, Neveen S Seifeldin, Christine K T Gobrial
Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies. Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29758562/clinical-relevance-of-systematic-phenotyping-and-exome-sequencing-in-patients-with-short-stature
#20
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B Ekici, Anita Rauch, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Christian T Thiel
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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