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Prenatal genetic

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https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#1
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#2
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#3
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#4
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#5
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28096981/experience-of-mowat-wilson-syndrome-prenatal-diagnosis-for-a-chinese-family
#6
Qian Jiang, Xiaoxiao Zhang, Yinan Ma, Qi Li, Chunhua Zheng, Yuchun Yan, Zhen Zhang, Ping Xiao, Lin Su, Wei Cheng, Hong Pan, Long Li
Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28096980/genetic-and-prenatal-findings-in-two-japanese-patients-with-schinzel-giedion-syndrome
#7
Nozomi Hishimura, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Tomoharu Tokutomi, Kouji Okuhara, Nobuhiro Takahashi, Susumu Iizuka, Hiroshi Yamamoto, Takashi Mishima, Satoko Fujieda, Ryoji Kobayashi, Kazutoshi Cho, Yukiko Kuroda, Kenji Kurosawa, Hidefumi Tonoki
We report two Japanese patients with Schinzel-Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#8
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28093649/naturalistic-experimental-designs-as-tools-for-understanding-the-role-of-genes-and-the-environment-in-prevention-research
#9
Leslie D Leve, Jenae M Neiderhiser, Gordon T Harold, Misaki N Natsuaki, Brendan J M Bohannan, William A Cresko
Before genetic approaches were applied in experimental studies with human populations, they were used by animal and plant breeders to observe, and experimentally manipulate, the role of genes and environment on specific phenotypic or behavioral outcomes. For obvious ethical reasons, the same level of experimental control is not possible in human populations. Nonetheless, there are natural experimental designs in human populations that can serve as logical extensions of the rigorous quantitative genetic experimental designs used by animal and plant researchers...
January 16, 2017: Prevention Science: the Official Journal of the Society for Prevention Research
https://www.readbyqxmd.com/read/28091799/prenatal-risk-factors-and-the-etiology-of-adhd-review-of-existing-evidence
#10
REVIEW
Emma Sciberras, Melissa Mulraney, Desiree Silva, David Coghill
While it is well accepted that attention-deficit/hyperactivity disorder (ADHD) is a highly heritable disorder, not all of the risk is genetic. It is estimated that between 10 and 40% of the variance associated with ADHD is likely to be accounted for by environmental factors. There is considerable interest in the role that the prenatal environment might play in the development of ADHD with previous reviews concluding that despite demonstration of associations between prenatal risk factors (e.g. prematurity, maternal smoking during pregnancy) and ADHD, there remains insufficient evidence to support a definite causal relationship...
January 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28079899/genome-sequencing-and-carrier-testing-decisions-on-categorization-and-whether-to-disclose-results-of-carrier-testing
#11
Patricia Himes, Tia L Kauffman, Kristin R Muessig, Laura M Amendola, Jonathan S Berg, Michael O Dorschner, Marian Gilmore, Deborah A Nickerson, Jacob A Reiss, C Sue Richards, Alan F Rope, Dana K Simpson, Benjamin S Wilfond, Gail P Jarvik, Katrina A B Goddard
PURPOSE: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28079113/congenital-hearing-loss
#12
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss...
January 12, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28077626/low-dose-or-low-dose-rate-ionizing-radiation-induced-bioeffects-in-animal-models
#13
REVIEW
Feng Ru Tang, Weng Keong Loke, Boo Cheong Khoo
Animal experimental studies indicate that acute or chronic low-dose ionizing radiation (LDIR) (≤100 mSv) or low-dose-rate ionizing radiation (LDRIR) (<6 mSv/h) exposures may be harmful. It induces genetic and epigenetic changes and is associated with a range of physiological disturbances that includes altered immune system, abnormal brain development with resultant cognitive impairment, cataractogenesis, abnormal embryonic development, circulatory diseases, weight gain, premature menopause in female animals, tumorigenesis and shortened lifespan...
January 10, 2017: Journal of Radiation Research
https://www.readbyqxmd.com/read/28074555/pediatric-stress-from-neuroendocrinology-to-contemporary-disorders
#14
REVIEW
Stavroula Stavrou, Nicolas C Nicolaides, Elena Critselis, Christina Darviri, Evangelia Charmandari, George P Chrousos
BACKGROUND: Stress is defined as a state of threatened or perceived as threatened homeostasis. A broad spectrum of extrinsic or intrinsic, real or perceived stressful stimuli, called "stressors", activates a highly conserved system, the "stress system", which adjusts homeostasis through central and peripheral neuroendocrine responses. Inadequate, excessive or prolonged adaptive responses to stress may underlie the pathogenesis of several disease states prevalent in modern societies. The development and severity of these conditions primarily depend on the genetic vulnerability of the individual, the exposure to adverse environmental factors and the timing of the stressful event(s), given that prenatal life, infancy, childhood and adolescence are critical periods characterized by increased vulnerability to stressors...
January 11, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#15
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28068486/the-changing-epidemiology-of-autism-spectrum-disorders
#16
Kristen Lyall, Lisa Croen, Julie Daniels, M Daniele Fallin, Christine Ladd-Acosta, Brian K Lee, Bo Y Park, Nathaniel W Snyder, Diana Schendel, Heather E Volk, Gayle C Windham, Craig Newschaffer
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction...
December 21, 2016: Annual Review of Public Health
https://www.readbyqxmd.com/read/28063574/interventions-et-techniques-de-diagnostic-pr%C3%A3-natal-visant-l-obtention-d-un-pr%C3%A3-l%C3%A3-vement-f%C3%A5-tal-%C3%A3-des-fins-diagnostiques-risques-et-avantages-pour-la-m%C3%A3-re-et-le-f%C3%A5-tus
#17
R Douglas Wilson, Alain Gagnon, François Audibert, Carla Campagnolo, June Carroll
OBJECTIF: Offrir aux fournisseurs de soins de maternité et à leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres à la tenue des interventions diagnostiques prénatales orientées par échographie (et/ou des techniques permettant l'établissement d'un diagnostic génétique) nécessaires dans les cas où il a été établi pendant la période prénatale que la grossesse serait exposée à des risques, ainsi qu'en ce qui concerne la prise de décisions subséquentes quant à la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstétricaux, la surveillance prénatale, le lieu où devraient se dérouler les soins et l'accouchement, et la décision de poursuivre ou d'interrompre la grossesse)...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28061423/correlation-between-fetal-autopsy-and-prenatal-diagnosis-by-ultrasound-a-systematic-review
#18
REVIEW
A Cristina Rossi, Federico Prefumo
: The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. EXCLUSION CRITERIA: case reports, non English language, data reported in graphs or percentage...
December 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28057092/-the-prenatal-genetic-diagnosis-of-a-family-with-complete-androgen-insensitivity-syndrome
#19
W Q Wu, Y Liu, Q Geng, F W Luo, W B Chen, H Yuan, J S Xie
Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband...
December 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28040145/detection-of-a-novel-c-7106_7110delinst-heterozygous-mutation-in-the-flna-gene-in-an-asymptomatic-mother-with-periventricular-nodular-heterotopia-during-prenatal-genetic-counseling
#20
Chih-Ping Chen, Schu-Rern Chern, Nan-Chang Chiu, Yu-Peng Liu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
No abstract text is available yet for this article.
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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