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Mental retardation

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https://www.readbyqxmd.com/read/28454373/inhibition-of-cyfip2-promotes-gastric-cancer-cell-proliferation-and-chemoresistance-to-5-fluorouracil-through-activation-of-the-akt-signaling-pathway
#1
Shuhua Jiao, Nuo Li, Shuang Cai, Haimei Guo, Yanhui Wen
Gastric cancer is a common gastrointestinal malignancy that accounts for a notable proportion of cancer-associated mortalities worldwide. Cytoplasmic fragile X mental retardation 1-interacting protein 2 (CYFIP2) is a novel p53-mediated pro-apoptotic protein whose expression is decreased in gastric cancer. However, whether decreased expression of CYFIP2 contributes to gastric carcinogenesis remains unclear. In order to mimic in vivo gastric tumor CYFIP2 expression levels, the present study used short hairpin RNA targeting CYFIP2 mRNA to silence CYFIP2 expression in MGC803 and SGC7901 gastric cancer cells...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28446958/syndromic-disorder-of-sex-development-due-to-a-novel-hemizygous-mutation-in-the-carboxyl-terminal-domain-of-atrx
#2
Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#3
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#4
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#5
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431365/attitudes-towards-people-with-epilepsy-in-moscow
#6
Alla Guekht, Anna Gersamiya, Igor Kaimovskiy, Maria Mizinova, Alexander Yakovlev, Alexander Shpak
PURPOSE: To assess the knowledge and attitudes in Moscow towards people with epilepsy (PWE). METHODS: Data were collected from 1167 adults, permanent residents of Moscow, who were interviewed. A 10-item questionnaire was used addressing three major domains: familiarity with epilepsy (2 questions), understanding of epilepsy (5 questions), and attitude towards the PWE (3 questions). Results were standardized to the Moscow population. RESULTS: The study population was generally well informed about epilepsy...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28427492/maternal-lead-exposure-induces-down-regulation-of-hippocampal-insulin-degrading-enzyme-and-nerve-growth-factor-expression-in-mouse-pups
#7
Xing Li, Ning Li, Hua Lei Sun, Jun Yin, Yu Chang Tao, Zhen Xing Mao, Zeng Li Yu, Wen Jie Li, John D Bogden
Lead exposure is a known potential risk factor for neurodegenerative diseases such as Alzheimer's disease (AD). Exposure to lead during the critical phase of brain development has been linked with mental retardation and hypophrenia in later life. This study was aimed to investigate the effects of lead exposure of pregnant mice on the expressions of insulin-degrading enzyme (IDE) and nerve growth factor (NGF) in the hippocampus of their offspring. Blood samples were collected from the tail vein, and after anesthetizing the pups, the brain was excised on postnatal day 21...
March 2017: Biomedical and Environmental Sciences: BES
https://www.readbyqxmd.com/read/28424484/the-tandem-agenet-domain-of-fragile-x-mental-retardation-protein-interacts-with-fus
#8
Qingzhong He, Wei Ge
The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain "Royal family". Several groups have reported that the TAD binds with methylated histones and plays a role in DNA damage responses. FMRP is a RNA-binding protein predominantly resident in cytoplasm. Therefore, in this study, we identified DDX5, FUS, EWSR1 and LSM14A as TAD-interacting proteins sensitive to F32L and/or Y96L mutation by pull-down assays and mass spectrometry...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#9
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421537/satb2-ablation-impairs-hippocampus-based-long-term-spatial-memory-and-short-term-working-memory-and-immediate-early-genes-iegs-mediated-hippocampal-synaptic-plasticity
#10
Ying Li, Qiang-Long You, Sheng-Rong Zhang, Wei-Yuan Huang, Wen-Jun Zou, Wei Jie, Shu-Ji Li, Ji-Hong Liu, Chuang-Ye Lv, Jin Cong, Yu-Ying Hu, Tian-Ming Gao, Jian-Ming Li
Special AT-rich sequence-binding protein 2 (Satb2) is a protein binding to the matrix attachment regions of DNA and important for gene regulation. Patients with SATB2 mutation usually suffer moderate to severe mental retardation. However, the mechanisms for the defects of intellectual activities in patients with SATB2 mutation are largely unclear. Here we established the heterozygous Satb2 mutant mice and Satb2 conditional knockout mice to mimic the patients with SATB2 mutation and figured out the role of Satb2 in mental activities...
April 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28420409/assessing-the-status-of-iodine-deficiency-disorder-idd-and-associated-factors-in-wolaita-and-dawro-zones-school-adolescents-southern-ethiopia
#11
Shimelash Bitew Workie, Yemane Gebremariam Abebe, Amha Admasie Gelaye, Tefera Chane Mekonen
BACKGROUND: Iodine deficiency is the major preventable cause of irreversible mental retardation in the world. Ethiopia is a country with high prevalence of iodine deficiency disorders which continue to affect a large number of the country's population. The aim of the study was to assess the prevalence of iodine deficiency disorder in Wolaita and Dawuro zones. METHODS: A descriptive, cross-sectional study was conducted in high school and preparatory students in Wolaita and Dawuro zones between April and May 2012...
April 18, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#12
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
April 17, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28419062/single-center-study-investigating-foreign-language-acquisition-at-school-in-children-adolescents-and-young-adults-with-uni-or-bilateral-cochlear-implants-in-the-swiss-german-population
#13
Renske Beeres-Scheenstra, Claudia Ohnsorg, Claudia Candreia, Sybille Heinzmann, Susana Castellanos, Nicola De Min, Thomas E Linder
OBJECTIVE: To evaluate foreign language acquisition at school in cochlear implant patients. STUDY DESIGN: Cohort study. SETTING: CI center. PATIENTS: Forty three cochlear implants (CI) patients (10-18 yr) were evaluated. CI nonusers and patients with CI-explantation, incomplete datasets, mental retardation, or concomitant medical disorders were excluded. INTERVENTION(S): Additional data (type of schooling, foreign language learning, and bilingualism) were obtained with questionnaires...
April 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28418766/clinical-phenotype-of-depression-affects-interleukin-6-synthesis
#14
Łukasz Zadka, Piotr Dzięgiel, Michał Kulus, Marcin Olajossy
Major depressive disorder (MDD) is not a single disease, but a number of various ailments that form one entity. Psychomotor retardation, anhedonia, sleep disorders, an increased suicide risk, and anxiety are the main symptoms that often define the clinical diagnosis of depression. Interleukin-6 (IL-6), as one of the proinflammatory cytokines, seems to be overexpressed during certain mental disorders, including MDD. Overexpression of IL-6 in depression is thought to be a factor associated with bad prognosis and worse disease course...
April 18, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28413780/generalized-epilepsy-in-baraitser-winter-cerebrofrontofacial-syndrome
#15
Seth Andrew Climans, Seyed M Mirsattari
•Baraitser-Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.•Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.•Generalized epilepsy is seen in half of those with BWMS.•Seizures in BWMS can be absence, myoclonic, tonic, or tonic-clonic.
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28413401/parkinsonism-in-association-with-dihydropteridine-reductase-deficiency
#16
Yoshiaki Takahashi, Yasuhiro Manabe, Yumiko Nakano, Taijun Yunoki, Syoichiro Kono, Hisashi Narai, Mahoko Furujo, Koji Abe
We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#17
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28405636/when-transporters-fail-to-be-transported-how-to-rescue-folding-deficient-slc6-transporters
#18
Sonja Sucic, Ameya Kasture, H M Mazhar Asjad, Carina Kern, Ali El-Kasaby, Michael Freissmuth
The human dopamine transporter (hDAT) belongs to the solute carrier 6 (SLC6) gene family. Point mutations in hDAT (SLC6A3) have been linked to a syndrome of dopamine transporter deficiency or infantile dystonia/parkinsonism. The mutations impair DAT folding, causing retention of variant DATs in the endoplasmic reticulum and subsequently impair transport activity. The folding trajectory of DAT itself is not understood, though many insights have been gained from studies of folding-deficient mutants of the closely related serotonin transporter (SERT); i...
December 30, 2016: Journal of Neurology & Neuromedicine
https://www.readbyqxmd.com/read/28401051/surgery-in-pediatric-crohn-s-disease-indications-timing-and-post-operative-management
#19
REVIEW
Seung Kim
Pediatric onset Crohn's disease (CD) tends to have complicated behavior (stricture or penetration) than elderly onset CD at diagnosis. Considering the longer duration of the disease in pediatric patients, the accumulative chance of surgical treatment is higher than in adult onset CD patients. Possible operative indications include perianal CD, intestinal stricture or obstruction, abdominal abscess or fistula, intestinal hemorrhage, neoplastic changes and medically untreatable inflammation. Growth retardation is an operative indication only for pediatric patients...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28399099/-immunological-parameters-in-assessing-the-risk-of-decompensation-in-children-with-mental-retardation
#20
A A Shmakova, O P Shmakova, L V Androsova
AIM: To analyze the correlation between clinical and immunological parameters in children with mental retardation (MR) in order to explore the possibilities of using immunological data in assessing the severity of patient's condition and predicting a risk of decompensation, exacerbation of mental disorders comorbid to MR. MATERIAL AND METHODS: Seventy-three school children, aged 8-17 years, mean age 12,6±2,4 years, with MR of different genesis and 64 physically and mentally healthy children (control group) of the same age and sex were studied clinically and immunologically...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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