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https://www.readbyqxmd.com/read/30244301/mednik-syndrome-with-a-frame-shift-causing-mutation-in-ap1s1-gene-and-literature-review-of-the-clinical-features
#1
Faruk Incecik, Atil Bisgin, Mustafa Yılmaz
MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing...
September 23, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/30244195/genome-sequencing-reveals-a-deep-intronic-splicing-acvrl1-mutation-hotspot-in-hereditary-haemorrhagic-telangiectasia
#2
Whitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir
INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG , ACVRL1 , and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We hypothesised that non-coding regions of the known HHT genes may harbour variants that disrupt splicing in these cases. METHODS: DNA from 35 individuals with clinical findings of HHT and 2 healthy controls from 13 families underwent whole genome sequencing...
September 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30244176/biallelic-tor1a-mutations-cause-severe-arthrogryposis-a-case-requiring-reverse-phenotyping
#3
Esra Isik, Ayca Aykut, Tahir Atik, Ozgur Cogulu, Ferda Ozkinay
Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. Autosomal recessive TOR1A disease is a very recently described syndrome characterized by severe arthrogryposis, developmental delay, strabismus and tremor. A 2 month-old boy with severe arthrogryposis and developmental delay was referred to our department for genetic counseling. Dystonic movements were observed on physical examination. Whole exome sequencing revealed a homozygous nonsense variant in exon 5 of TOR1A (c...
September 20, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30244162/reduced-phenotypic-expression-in-genetic-hemochromatosis-with-time-role-of-exposure-to-nongenetic-modifiers
#4
Yves Deugnier, Jeff Morcet, Fabrice Lainé, Houda Hamdi-Roze, Anne-Sophie Bollard, Dominique Guyader, Romain Moirand, Edouard Bardou-Jacquet
BACKGROUND: Genetic hemochromatosis is mainly related to the homozygous genotype for the HFE p.Cys282Tyr (C282Y) mutation leading to hepcidin deficiency. Its low penetrance suggests the involvement of cofactors modulating its expression AIM: To describe the evolution of disease presentation and of non-genetic factors liable to impact hepcidin production in the long term. PATIENTS & METHODS: Clinical symptoms, markers of iron load, and risk factors according to the year of diagnosis were recorded over 30 years in a cohort of C282Y homozygotes ≥ 18 years...
September 20, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/30243749/unilateral-retinitis-pigmentosa-in-children
#5
Carmel L Mercado, Brandon H Pham, Shannon Beres, Michael F Marmor, Scott R Lambert
BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal disorders characterized by diffuse progressive degeneration of the retina that typically presents bilaterally. Unilateral RP has not often been reported in children. We present a series of cases that illustrate discrimination between unilateral and asymmetric disease and between dystrophy and acquired degeneration. METHODS: Four patients (9-15 years of age; 3 females) were referred to our institution for possible unilateral RP based on fundus appearance and unilateral symptoms...
September 19, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/30243642/polygenic-scores-for-neuropsychiatric-traits-and-white-matter-microstructure-in-the-pediatric-population
#6
Philip R Jansen, Ryan L Muetzel, Tinca J C Polderman, Vincent W Jaddoe, Frank C Verhulst, Aad van der Lugt, Henning Tiemeier, Danielle Posthuma, Tonya White
BACKGROUND: Genome-wide association studies have identified numerous genetic variants that predispose to neuropsychiatric traits. Identification of mechanisms in the brain that underlie these associations is essential for understanding manifestations of genetic predisposition within the general population. Here, we investigated the association between polygenic scores (PGSs) for seven neuropsychiatric traits and white matter microstructure of the brain on diffusion tensor imaging in the pediatric population...
August 3, 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/30243638/diversity-of-dairy-goat-lactation-curves-in-france
#7
M Arnal, C Robert-Granié, H Larroque
A high level of production at the peak of lactation may be associated with animal health disorders, high feeding costs, and reduced milk supply throughout the year. The objective of this study was to typologize the lactation curves in French dairy goats and analyze the influence of environmental and genetic factors on these curves. The data set consisted of 2,231,720 monthly test-day records of 213,534 French Saanen and Alpine goats recorded between September 2008 and June 2012. First, principal component analysis classified the shape of the lactation curves into 3 principal components: the first component accounted for milk yield level throughout lactation, the second component accounted for lactation persistency, and the third component accounted for milk yield in mid-lactation...
September 19, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/30243504/characterising-the-nutritional-status-of-children-with-primary-ciliary-dyskinesia
#8
L V Marino, A Harris, C Johnstone, A Friend, C Newell, E A Miles, J S Lucas, P C Calder, W T Walker
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare, heterogeneous genetic disorder where impaired mucociliary clearance is caused by dysfunctional motile cilia leading to bronchiectasis. There is limited evidence characterising the nutritional status of children with PCD, although lower body mass index (BMI) z-score has been associated with worse lung function (FEV1 ). METHODS: All children (n = 43) with PCD, aged <16 years, from a single tertiary centre were prospectively enrolled...
September 7, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/30243302/late-onset-hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome-how-web-searching-by-the-family-solved-unexplained-unconsciousness-a-case-report
#9
Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. Adult presentation of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome has rarely been described, but is potentially underdiagnosed in the emergency room. In the case of acute hyperammonemia, prompt diagnosis is essential to minimize the risk of brain damage and death. CASE PRESENTATION: We present the diagnostics, clinical course, and treatment of a 48-year-old Caucasian man presenting with unexplained unconsciousness in the emergency room...
September 23, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/30243197/adolescent-and-adult-differences-in-major-depression-symptom-profiles
#10
F Rice, L Riglin, T Lomax, E Souter, R Potter, D J Smith, A K Thapar, A Thapar
BACKGROUND: Depression is the leading global cause of disability and often begins in adolescence. The genetic architecture and treatment response profiles for adults and adolescents differ even though identical criteria are used to diagnose depression across different age groups. There is no clear consensus on how these groups differ in their symptom profiles. METHODS: Using data from a two-generation family study, we compared the presentation of DSM-IV depressive symptoms in adolescents and adults with MDD (Major Depressive Disorder)...
September 11, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/30243034/gain-of-function-mutations-in-stim1-and-orai1-causing-tubular-aggregate-myopathy-and-stormorken-syndrome
#11
REVIEW
Johann Böhm, Jocelyn Laporte
Calcium (Ca2+ ) is a key regulator for a large number of cellular functions in all kinds of cells, and small disturbances of Ca2+ homeostasis can severely compromise normal physiology in various tissues and organs. A major mechanism controlling Ca2+ homeostasis is store-operated Ca2+ entry (SOCE), which relies on the concerted action of the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. Gain-of-function mutations in the respective genes induce excessive Ca2+ entry, and cause tubular aggregate myopathy (TAM) and Stormorken syndrome...
September 3, 2018: Cell Calcium
https://www.readbyqxmd.com/read/30242864/role-of-gram-positive-bacteria-in-chronic-pelvic-pain-syndrome-cpps
#12
Stephen F Murphy, Jonathan F Anker, Daniel J Mazur, Christel Hall, Anthony J Schaeffer, Praveen Thumbikat
INTRODUCTION: Chronic pelvic pain syndrome (CPPS) is a complex disorder that affects a large proportion of all men. A limited understanding of its etiology and pathogenesis is reflected by the absence of effective therapies. Although CPPS is deemed clinically non-infectious with no well-defined etiological role for microbes, bacteria is readily isolated from both healthy and patient prostate secretion and urine samples. Our laboratory has previously demonstrated that a specific gram-negative bacterial isolate can induce CPPS-like symptoms in mice...
September 21, 2018: Prostate
https://www.readbyqxmd.com/read/30242827/long-term-cognitive-trajectories-and-heterogeneity-in-patients-with-schizophrenia-and-their-unaffected-siblings
#13
Md A Islam, T D Habtewold, F D van Es, P J Quee, E R van den Heuvel, B Z Alizadeh, R Bruggeman
OBJECTIVE: This study aimed to assess the heterogeneity and stability of cognition in patients with a non-affective psychotic disorder and their unaffected siblings. In addition, we aimed to predict the cognitive subtypes of siblings by their probands. METHOD: Assessments were conducted at baseline, 3 and 6 years in 1119 patients, 1059 siblings and 586 controls from the Genetic Risk and Outcome of Psychosis (GROUP) study. Group-based trajectory modeling was applied to identify trajectories and clustered multinomial logistic regression analysis was used for prediction modeling...
September 21, 2018: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/30242500/phenotype-genotype-correlations-and-emerging-pathways-in-ocular-anterior-segment-dysgenesis
#14
REVIEW
A S Ma, J R Grigg, R V Jamieson
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity...
September 21, 2018: Human Genetics
https://www.readbyqxmd.com/read/30242487/epigenetic-signature-of-maoa-and-maob-genes-in-mental-disorders
#15
REVIEW
Christiane Ziegler, Katharina Domschke
Epigenetic processes such as DNA methylation are considered key mechanisms at the crossroads between genetics and environment in the etiology of mental disorders. The monoamine oxidases A and B (MAOA/MAOB) are prime candidates for the investigation into the role of DNA methylation in mental disorders, given their pivotal role in the metabolism of monoamines and as pharmacological targets of potent antidepressant drugs such as tranylcypromine, phenelzine or moclobemide. The present mini-review aims at summarizing and critically discussing the growing body of the literature supporting a role of DNA methylation of the MAOA gene promoter/exon I/intron I region and its interaction with environmental factors in several mental disorders, i...
September 21, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/30242240/phenotypic-and-genetic-analysis-of-an-adult-cohort-with-extreme-obesity
#16
Priska Stahel, Shawn K Sud, So Jeong Lee, Timothy Jackson, David R Urbach, Allan Okrainec, Johane P Allard, Anne S Bassett, Andrew D Paterson, Sanjeev Sockalingam, Satya Dash
CONTEXT: Adult extreme obesity (EO) is a growing health concern. The prevalence of known obesity associated co-morbidities namely cardio-metabolic and neuro-psychiatric disease in EO is not fully established. The contribution of pathogenic genetic variants, previously implicated in early childhood onset obesity, to adult EO is also not established. OBJECTIVE: We undertook phenotypic and genetic analysis of adult patients with extreme obesity (EO, BMI > 50)...
September 21, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/30242175/vps34-mediated-macropinocytosis-in-tuberous-sclerosis-complex-2-deficient-cells-supports-tumorigenesis
#17
Harilaos Filippakis, Amine Belaid, Brian Siroky, Constance Wu, Nicola Alesi, Thomas Hougard, Julie Nijmeh, Hilaire C Lam, Elizabeth P Henske
Tuberous Sclerosis Complex (TSC), a rare genetic disorder with mechanistic target of rapamycin complex 1 (mTORC1) hyperactivation, is characterized by multi-organ hamartomatous benign tumors including brain, skin, kidney, and lung (Lymphangioleiomyomatosis). mTORC1 hyperactivation drives metabolic reprogramming including glucose and glutamine utilization, protein, nucleic acid and lipid synthesis. To investigate the mechanisms of exogenous nutrients uptake in Tsc2-deficient cells, we measured dextran uptake, a polysaccharide internalized via macropinocytosis...
September 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30242089/unravelling-of-the-paroxysmal-dyskinesias
#18
Roberto Erro, Kailash P Bhatia
Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss of consciousness. Classically, PxD have been categorised according to their triggers and duration of the attacks, but increasing evidence suggests that there is a certain degree of clinical and genetic overlap and challenges the concept that one phenotype is attributable to one single aetiology...
September 21, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30242048/genomic-analyses-of-visual-cognition-perceptual-rivalry-and-top-down-control
#19
Biqing Chen, Zijian Zhu, Ren Na, Wan Fang, Wenxia Zhang, Qin Zhou, Shanbi Zhou, Han Lei, Ailong Huang, Tingmei Chen, Dongsheng Ni, Yuping Gu, Jianing Liu, Fang Fang, Yi Rao
Visual cognition in humans has traditionally been studied with cognitive behavioral methods and brain imaging, but much less with genetic methods. Perceptual rivalry, an important phenomenon in visual cognition, is the spontaneous perceptual alternation that occurs between two distinct interpretations of a physically constant visual stimulus (e.g. binocular rivalry stimuli) or a perceptually ambiguous stimulus (e.g. the Necker cube). The switching rate varies dramatically across individuals and can be voluntarily modulated by observers...
September 21, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/30241636/uncomplicated-acute-pancreatitis-evidenced-based-management-decisions
#20
REVIEW
Venkata S Akshintala, Ayesha Kamal, Vikesh K Singh
Acute pancreatitis is among the most common gastrointestinal disorders requiring hospitalization worldwide. Establishing the cause of acute pancreatitis ensures appropriate management and proper health care resource utilization. Causes of acute pancreatitis include biliary, alcohol use, hypertriglyceridemia, hypercalcemia, drug-induced, autoimmune, hereditary/genetic, and anatomic abnormalities. Fluid therapy remains the cornerstone of managing acute pancreatitis. This article provides a brief summary of current evidence-based practices in the diagnosis and management of uncomplicated acute pancreatitis...
October 2018: Gastrointestinal Endoscopy Clinics of North America
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