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https://www.readbyqxmd.com/read/30316150/cognitive-characteristics-of-mitochondrial-diseases-in-children
#1
Hillary Shurtleff, Dwight Barry, Sirisak Chanprasert, Tim Firman, Molly Warner, Russell P Saneto
INTRODUCTION: This retrospective descriptive study was undertaken to further define the intelligence profiles of children with mitochondrial disorders, in the context of seizures and age of symptom onset. METHODS: We retrospectively identified forty-nine pediatric patients with definitive mitochondrial disease diagnoses and complete intelligence or adaptive functioning testing data. Patients were 0-216 months at onset of symptoms and 61-250 months of age at testing...
October 10, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/30304514/bi-allelic-mutations-of-lonp1-encoding-the-mitochondrial-lonp1-protease-cause-pyruvate-dehydrogenase-deficiency-and-profound-neurodegeneration-with-progressive-cerebellar-atrophy
#2
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Susan Blaser, Sohnee Ahmed, Jessie Cameron, Kamalendra Singh, Peter N Ray, Carolyn K Suzuki, Grace Yoon
LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents. Both siblings presented with stepwise regression during infancy, profound hypotonia and muscle weakness, severe intellectual disability and progressive cerebellar atrophy on brain imaging. Muscle biopsy revealed the absence of ragged-red fibers, which are often seen in mitochondrial DNA (mtDNA) diseases and other muscle disorders...
October 9, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30303655/barriers-and-facilitators-to-improving-health-care-for-adults-with-intellectual-and-developmental-disabilities-what-do-staff-tell-us
#3
Avra Selick, Janet Durbin, Ian Casson, Jacques Lee, Yona Lunsky
INTRODUCTION: Adults with intellectual and developmental disabilities (IDD) have high rates of morbidity and are less likely to receive preventive care. Emergency departments and primary care clinics are important entry points into the health care system. Improving care in these settings can lead to increased prevention activities, early disease identification, and ongoing management. We studied barriers and facilitators to improving the care of patients with IDD in three primary and three emergency care sites in Ontario...
October 2018: Health Promotion and Chronic Disease Prevention in Canada
https://www.readbyqxmd.com/read/30301590/genetic-analysis-of-undiagnosed-ataxia-telangiectasia-like-disorders
#4
Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi
OBJECTIVES: Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage...
October 6, 2018: Brain & Development
https://www.readbyqxmd.com/read/30298488/-genetic-screening-and-prenatal-diagnosis-for-high-risk-families-of-fragile-x-syndrome
#5
Hui Xi, Yanan Zhang, Liyan Qin, Huaixing Kang, Ranhui Duan, Zhengjun Jia, Hua Wang
OBJECTIVE: To assess the value of genetic testing for Fragile X syndrome (FXS). METHODS: A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting. RESULTS: Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30296934/neurodevelopmental-and-emotional-behavioral-outcomes-in-late-preterm-infants-an-observational-descriptive-case-study
#6
Roberto Palumbi, Antonia Peschechera, Mariella Margari, Francesco Craig, Arcangelo Cristella, Maria Giuseppina Petruzzelli, Lucia Margari
BACKGROUND: Over the last decade, several studies investigated the outcomes in children born very preterm. Only recently there has been an increasing interest in the late preterm infants (born between 34 + 0 and 36 + 6 weeks). This population is at high risk of morbidity and mortality in the first years of life. Other studies reported that they are also at risk of long-term developmental problem. Therefore, the aim of this study is to describe the neurodevelopmental and emotional-behavioral outcome in a sample of late preterm patients...
October 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/30296914/mutated-thyroid-hormone-transporter-oatp1c1-associates-with-severe-brain-hypometabolism-and-juvenile-neurodegeneration
#7
Petter Stromme, Stefan Groeneweg, Elaine C Lima de Souza, Chantal Zevenbergen, Anette Torgersbråten, Asbjørn Holmgren, Ebrar Gurcan, Marcel Meima, Robin Peeters, W Edward Visser, Linda Høneren Johansson, Almira Babovic, Henrik Zetterberg, Heike Heuer, Eirik Frengen, Doriana Misceo, Theo J Visser
Context Thyroid hormones (TH) are essential for brain development and function. The TH transporters monocarboxylate transporter 8 (MCT8) and organic anion transporter1 C1 (OATP1C1) facilitate the transport of TH across the blood-brain-barrier and into glia and neuronal cells in the brain. Loss of MCT8 function causes Allan-Herndon-Dudley syndrome (AHDS, OMIM 300523) characterized by severe intellectual and motor disability due to cerebral hypothyroidism. We describe the first patient with loss of OATP1C1 function...
October 8, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/30296617/a-potential-gain-of-function-variant-of-slc9a6-leads-to-endosomal-alkalinization-and-neuronal-atrophy-associated-with-christianson-syndrome
#8
Alina Ilie, Andy Y L Gao, Annie Boucher, Jaeok Park, Albert M Berghuis, Mariëtte J V Hoffer, Yvonne Hilhorst-Hofstee, R Anne McKinney, John Orlowski
Loss-of-function mutations in the recycling endosomal (Na+ ,K+ )/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). However, knowledge of the disease heterogeneity of CS is limited. Here, we describe the clinical features and underlying molecular and cellular mechanisms associated with a CS patient carrying a de novo missense variant (p...
October 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/30296183/monogenic-forms-of-lipodystrophic-syndromes-diagnosis-detection-and-practical-management-considerations-from-clinical-cases
#9
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver and diabetes, and to provide appropriate genetic counselling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes. Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis...
October 8, 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/30294546/the-first-pediatric-case-of-glucagon-receptor-defect-due-to-biallelic-mutations-in-gcgr-is-identified-by-newborn-screening-of-elevated-arginine
#10
Hong Li, Lihua Zhao, Rani Singh, J Nina Ham, Doris O Fadoju, Lora J H Bean, Yan Zhang, Yong Xu, H Eric Xu, Michael J Gambello
Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for elevations of glutamine (normal ammonia), alanine (normal lactate), dibasic amino acids (arginine, lysine and ornithine), threonine and serine. She initially was brought to medical attention by an elevated arginine on newborn screening (NBS) and treated for presumed arginase deficiency with a low protein diet, essential amino acids formula and an ammonia scavenger drug...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30293988/de-novo-missense-variants-in-rac3-cause-a-novel-neurodevelopmental-syndrome
#11
Gregory Costain, Bert Callewaert, Heinz Gabriel, Tiong Y Tan, Susan Walker, John Christodoulou, Tamas Lazar, Björn Menten, Julia Orkin, Simon Sadedin, Meaghan Snell, Arnaud Vanlander, Sarah Vergult, Susan M White, Stephen W Scherer, Robin Z Hayeems, Susan Blaser, Shoshana J Wodak, David Chitayat, Christian R Marshall, M Stephen Meyn
PURPOSE: RAC3 is an underexamined member of the Rho GTPase gene family that is expressed in the developing brain and linked to key cellular functions. De novo missense variants in the homolog RAC1 were recently associated with developmental disorders. In the RAC subfamily, transforming missense changes at certain shared residues have been observed in human cancers and previously characterized in experimental studies. The purpose of this study was to determine whether constitutional dysregulation of RAC3 is associated with human disease...
October 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30293238/estimating-contribution-of-rare-non-coding-variants-to-neuropsychiatric-disorders
#12
Atsushi Takata
Owing to recent advances in DNA sequencing technology, a number of large-scale comprehensive analyses of genetic variations in protein-coding regions (i.e., whole-exome sequencing studies), have been conducted for neuropsychiatric and neurodevelopmental disorders, such as autism spectrum disorders, intellectual disability, and schizophrenia. These studies, especially those focusing on de novo (newly arising) mutations and extremely rare variants, have successfully identified previously unrecognized disease genes/mutations with a large effect size and deepen our understanding of the biology of neuropsychiatric diseases...
October 6, 2018: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/30290154/mutations-in-kcnk4-that-affect-gating-cause-a-recognizable-neurodevelopmental-syndrome
#13
Christiane K Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, Nadia Falah, Frances High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T Cho, Daniela J Claps Sepulveda, Stefano Pro, Roberta Battini, Giuseppe Zampino, Maria Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia
Aberrant activation or inhibition of potassium (K+ ) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K+ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized...
October 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30289920/position-effect-cryptic-complexity-and-direct-gene-disruption-as-disease-mechanisms-in-de-novo-apparently-balanced-translocation-cases
#14
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
The majority of apparently balanced translocation (ABT) carriers are phenotypically normal. However, several mechanisms were proposed to underlie phenotypes in affected ABT cases. In the current study, whole-genome mate-pair sequencing (WG-MPS) followed by Sanger sequencing was applied to further characterize de novo ABTs in three affected individuals. WG-MPS precisely mapped all ABT breakpoints and revealed three possible underlying molecular mechanisms. Firstly, in a t(X;1) carrier with hearing loss, a highly skewed X-inactivation pattern was observed and the der(X) breakpoint mapped ~87kb upstream an X-linked deafness gene namely POU3F4, thus suggesting an underlying long-range position effect mechanism...
2018: PloS One
https://www.readbyqxmd.com/read/30289594/haploinsufficiency-of-ncor1-associated-with-autism-spectrum-disorder-scoliosis-and-abnormal-palatogenesis
#15
Yuri Sakaguchi, Tomoko Uehara, Hisato Suzuki, Yoshiaki Sakamoto, Mineko Fujiwara, Kenjiro Kosaki, Toshiki Takenouchi
NCOR1 (nuclear receptor corepressor 1) is a transcriptional coregulatory protein that regulates the balance between histone acetylation and histone deacetylation. NCOR1 is listed as one of the 3,230 dose-sensitive genes which very rarely show truncating mutations in the pediatric population without severe diseases, even in a heterozygous state. In a large cohort study of intellectual disability/autism spectrum disorder, splicing mutations were identified in two individuals, however, the truncating effects of these splicing mutations have not been examined at the transcription level...
October 5, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30287593/16p13-11-microduplication-in-45-new-patients-refined-clinical-significance-and-genotype-phenotype-correlations
#16
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras
BACKGROUND: The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype-phenotype correlations to improve genetic counselling and patients' medical care...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30283027/the-intellectual-disability-gene-pqbp1-rescues-alzheimer-s-disease-pathology
#17
Hikari Tanaka, Kanoh Kondo, Xigui Chen, Hidenori Homma, Kazuhiko Tagawa, Aurelian Kerever, Shigeki Aoki, Takashi Saito, Takaomi Saido, Shin-Ichi Muramatsu, Kyota Fujita, Hitoshi Okazawa
Early-phase pathologies of Alzheimer's disease (AD) are attracting much attention after clinical trials of drugs designed to remove beta-amyloid (Aβ) aggregates failed to recover memory and cognitive function in symptomatic AD patients. Here, we show that phosphorylation of serine/arginine repetitive matrix 2 (SRRM2) at Ser1068, which is observed in the brains of early phase AD mouse models and postmortem end-stage AD patients, prevents its nuclear translocation by inhibiting interaction with T-complex protein subunit α...
October 3, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30280679/lifestyle-patterns-as-a-modifiable-risk-factor-for-late-life-cognitive-decline-a-narrative-review-regarding-dementia-prevention
#18
Jose Roberto Wajman, Leticia Lessa Mansur, Monica Sanches Yassuda
BACKGROUND: Dementias due to neurodegenerative disorders and more specifically, Alzheimer's disease (AD) are the most frequent of all diseases within the industrialized world. Besides this alarming fact, it is noted too that almost three-quarter of people with AD reside in low or middle-income nations. In recent years, cognitive and behavioral neuroscientists have focused on a possible correlation between environmental agents and genetic risk factors for these dementias. METHOD: In this narrative review, a close review of Medical Literature Analysis and Retrieval System was conducted...
October 3, 2018: Current Aging Science
https://www.readbyqxmd.com/read/30277262/autism-linked-chd-gene-expression-patterns-during-development-predict-multi-organ-disease-phenotypes
#19
Sahrunizam Kasah, Christopher Oddy, M Albert Basson
Recent large-scale exome sequencing studies have identified mutations in several members of the CHD (Chromodomain Helicase DNA-binding protein) gene family in neurodevelopmental disorders. Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. In addition to these neurodevelopmental features, a wide range of other developmental defects are associated with mutants of these genes, especially with regards to CHD7 haploinsufficiency, which is the primary cause of CHARGE syndrome...
October 2, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/30273869/a-meta-analysis-of-blood-lead-levels-in-india-and-the-attributable-burden-of-disease
#20
Bret Ericson, Russell Dowling, Subhojit Dey, Jack Caravanos, Navya Mishra, Samantha Fisher, Myla Ramirez, Promila Sharma, Andrew McCartor, Pradeep Guin, Mark Patrick Taylor, Richard Fuller
Multiple studies in India have found elevated blood lead levels (BLLs) in target populations. However the data have not yet been evaluated to understand population-wide exposure levels. We used arithmetic mean blood lead data published from 2010 to 2018 on Indian populations to calculate the average BLLs for multiple subgroups. We then calculated the attributable disease burden in IQ decrement and Disability Adjusted Life Years (DALYs). Our Pubmed search yielded 1066 articles. Of these, 31 studies representing the BLLs of 5472 people in 9 states met our study criteria...
September 28, 2018: Environment International
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