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https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#1
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#2
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29144511/evaluating-charge-syndrome-in-congenital-hypogonadotropic-hypogonadism-patients-harboring-chd7-variants
#3
Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild, Christian De Geyter, Christa Flück, Katrin Feller, Deborah Bartholdi, Attila Nemeth, Irene Halperin, Sandra Pekic Djurdjevic, Philippe Maeder, Georgios Papadakis, Andrew A Dwyer, Laura Marino, Lucie Favre, Duarte Pignatelli, Nicolas J Niederländer, James Acierno, Nelly Pitteloud
PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined.MethodsRare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29143991/genetic-and-non-genetic-risk-factors-for-pre-eclampsia-an-umbrella-review-of-systematic-reviews-and-meta-analyses-of-observational-studies
#4
REVIEW
Konstantinos Giannakou, Evangelos Evangelou, Stefania I Papatheodorou
OBJECTIVE: To summarize evidence from the literature on the risk factors associated with preeclampsia, assess the presence of statistical biases and identify associations with robust evidence. METHODS: We searched PubMed and ISI Web of Science from inception to October, 2016, to identify systematic reviews and meta-analyses of observational studies examining associations between genetic and non-genetic risk factors for preeclampsia. For each meta-analysis we estimated the summary effect size by random-effects and fixed-effects models, the 95% confidence interval and the 95% prediction interval...
November 16, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29143804/telomeres-and-telomerase-in-hematopoietic-dysfunction-prognostic-implications-and-pharmacological-interventions
#5
REVIEW
Theresa Vasko, Andrea Kaifie, Matthias B Stope, Thomas Kraus, Patrick Ziegler
Leukocyte telomere length (TL) has been suggested as a marker of biological age in healthy individuals, but can also reflect inherited and acquired hematopoietic dysfunctions or indicate an increased turnover of the hematopoietic stem and progenitor cell compartment. In addition, TL is able to predict the response rate of tyrosine kinase inhibitor therapy in chronic myeloid leukemia (CML), indicates clinical outcomes in chronic lymphocytic leukemia (CLL), and can be used as screening tool for genetic sequencing of selected genes in patients with inherited bone marrow failure syndromes (BMFS)...
October 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#6
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29142363/multiple-colorectal-adenomas-syndrome-with-malignant-degeneration-in-multiple-colorectal-polyps-18-f-fluorodeoxyglucose-positron-emission-tomography-computed-tomography-findings
#7
Punit Sharma
Multiple colorectal adenomas (MCRAs) syndrome is a genetic syndrome characterized by multiple colorectal polyps. Patients usually present late in late fourth or fifth decade of life. They have a high risk for developing malignancy. We here present such case of a 61-year-old man with MCRAs who developed malignant degeneration of multiple colorectal polyps, which was demonstrated on (18)F-fluorodeoxyglucose positron emission tomography-computed tomography.
October 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29142239/differential-overexpression-of-serpina3-in-human-prion-diseases
#8
S Vanni, F Moda, M Zattoni, E Bistaffa, E De Cecco, M Rossi, G Giaccone, F Tagliavini, S Haïk, J P Deslys, G Zanusso, J W Ironside, I Ferrer, G G Kovacs, G Legname
Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30)...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142202/genomic-mosaicism-in-paternal-sperm-and-multiple-parental-tissues-in-a-dravet-syndrome-cohort
#9
Xiaoxu Yang, Aijie Liu, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of DS in 112 families. Ten of the 56 paternal sperm samples were found to exhibit mosaicism of the proband's mutations, with mutant allelic fractions (MAFs) ranging from 0...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#10
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#11
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29141973/energy-metabolism-profile-in-individuals-with-prader-willi-syndrome-and-implications-for-clinical-management-a-systematic-review
#12
REVIEW
Maha Alsaif, Sarah A Elliot, Michelle L MacKenzie, Carla M Prado, Catherine J Field, Andrea M Haqq
Prader-Willi syndrome (PWS) is a rare genetic disorder associated with excessive weight gain. Hyperphagia associated with PWS may result in higher energy intake, but alterations in energy expenditure may also contribute to energy imbalance. The purpose of this critical literature review is to determine the presence of alterations in energy expenditure in individuals with PWS. Ten studies that measured total energy expenditure (TEE), resting energy expenditure (REE), sleep energy expenditure (SEE), activity energy expenditure (AEE), and diet induced thermogenesis (DIT) were included in this review...
November 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/29141844/architectural-t-wave-analysis-and-identification-of-on-therapy-breakthrough-arrhythmic-risk-in-type-1-and-type-2-long-qt-syndrome
#13
Alan Sugrue, Ram K Rohatgi, Peter A Noseworthy, Vaclav Kremen, J Martijn Bos, Bo Qiang, Yehu Sapir, Zachi I Attia, Christopher G Scott, Peter Brady, Samuel J Asirvatham, Paul A Friedman, Michael J Ackerman
BACKGROUND: Although the hallmark of long-QT syndrome (LQTS) is abnormal cardiac repolarization, there are varying degrees of phenotypic expression and arrhythmic risk. Our aim was to evaluate the performance of a morphological T-wave analysis program in defining breakthrough LQTS arrhythmic risk beyond the QTc value. METHODS AND RESULTS: We analyzed 407 genetically confirmed patients with LQT1 (n=246; 43% men) and LQT2 (n=161; 41% men) over the mean follow-up period of 6...
November 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#14
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141531/statins-in-aortic-disease
#15
Vicky Tsigkou, Gerasimos Siasos, Eva Mpletsa, Maria-Paraskevi Panoilia, Aggeliki Papastavrou, Giorgos Kokosias, Evangelos Oikonomou, Marina Zaromitidou, Manolis Vavuranakis, Christodoulos Stefanadis, Dimitris Tousoulis
BACKGROUND: Numerous studies indicate that statins have also multiple beneficial actions (known as 'pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, increased arterial thrombosis, and the stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29141509/relative-morphokinetics-assessed-by-time-lapse-imaging-are-altered-in-embryos-from-patients-with-endometriosis
#16
Alexander Freis, Jens Erik Dietrich, Moritz Binder, Verena Holschbach, Thomas Strowitzki, Ariane Germeyer
INTRODUCTION: Time-lapse technology allows almost continuous noninvasive assessment of embryonic development. It was shown previously that relative kinetics defining cleavage synchronicity are better predictors of blastocyst quality than absolute time points. This study aims to compare relative kinetics in embryos from patients with and without endometriosis. METHODS: Time-lapse data were collected retrospectively from 596 patients undergoing infertility treatment for in vitro fertilization from January 2011 to July 2016...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/29141503/association-of-the-genetic-and-traditional-risk-factors-of-ischaemic-heart-disease-with-stemi-and-nstemi-development
#17
Diana Žaliaduonytė-Pekšienė, Vaiva Lesauskaitė, Rasa Liutkevičienė, Vytenis Tamakauskas, Vilius Kviesulaitis, Giedrė Šinkūnaitė-Maršalkienė, Sandrita Šimonytė, Simonita Mačiulskytė, Eglė Tamulevičiūtė-Prascienė, Olivija Gustienė, Abdonas Tamošiūnas, Remigijus Žaliūnas
INTRODUCTION: To evaluate the influence of traditional risk factors of ischaemic heart disease and genetic factors to predict different types of acute coronary syndromes. MATERIALS AND METHODS: Five hundred and twenty-three patients with acute coronary syndromes (393 with ST elevation myocardial infarction (STEMI) and 130 with non-ST elevation myocardial infarction (NSTEMI)) comprised the study group. The control group consisted of 645 subjects free from symptoms of ischaemic heart disease and stroke...
October 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#18
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#19
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#20
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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