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Mental retardation

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https://www.readbyqxmd.com/read/29792850/microrna-182-inhibits-hcmv-replication-through-activation-of-type-i-ifn-response-by-targeting-foxo3
#1
Xia He, Junfang Teng, Can Cui, Dongrui Li, Lijun Wen
Human cytomegalovirus (HCMV) has led to kinds of clinical disorders and great morbidity worldwide, such as sensorineural hearing loss (SNHL), mental retardation, and developmental delays in immunocompromised individuals. Previous studies reported that HCMV has evolved a variety of mechanisms to evade the immune system, such as dysregulation of miRNAs. However, reports concerning the role of miRNA in HCMV infection are limited. Here, we reported that a host microRNA, miR-182, was significantly up-regulated by HCMV infection in U-251MG and NPCs cells...
May 21, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29787394/new-developments-in-the-genetic-diagnosis-of-short-stature
#2
Youn Hee Jee, Jeffrey Baron, Ola Nilsson
PURPOSE OF REVIEW: Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature. RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, aggrecan, C-natriuretic peptide, C-type natriuretic peptide (CNP), NPR2 (CNP receptor), protein tyrosine phosphatase, non-receptor type 11(PTPN11) (and other rasopathies), Fibrillin 1 (FBN1), IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings...
May 18, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29785777/paradoxical-effect-of-baclofen-on-social-behavior-in-the-fragile-x-syndrome-mouse-model
#3
Shimriet Zeidler, Andreea S Pop, Israa A Jaafar, Helen de Boer, Ronald A M Buijsen, Celine E F de Esch, Ingeborg Nieuwenhuizen-Bakker, Renate K Hukema, Rob Willemsen
INTRODUCTION: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental retardation protein (FMRP), a translational regulator of specific mRNAs at the postsynaptic compartment. The absence of FMRP leads to aberrant synaptic plasticity, which is believed to be caused by an imbalance in excitatory and inhibitory network functioning of the synapse...
April 26, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29783825/-clinical-and-molecular-analysis-of-two-chinese-siblings-with-bloom-syndrome
#4
M L Wu, X M Wang, J Li, Y Ding, Y Chen, G Y Chang, J Wang, Y P Shen
Objective: To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Methods: Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. The mutations were detected with high-throughput sequencing by Illumina sequencing platform. Results: The two siblings (probands) visited our department for short stature and growth retardation, they had full-term normal delivery after normal pregnancy of their mother...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#5
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29769344/efficient-delivery-of-hcmv-t-cell-antigens-by-attenuated-sendai-virus-vectors
#6
Richard Kiener, Markus Fleischmann, Marian Alexander Wiegand, Niels A W Lemmermann, Christiane Schwegler, Christine Kaufmann, Angelique Renzaho, Simone Thomas, Eva Felder, Hans Helmut Niller, Benedikt Asbach, Ralf Wagner
Human Cytomegalovirus (HCMV) represents a major cause of clinical complications during pregnancy as well as immunosuppression and the licensing of a protective HCMV vaccine remains an unmet global need. Herein, we designed and validated novel Sendai virus (SeV) vectors delivering T cell immunogens IE-1 and pp65. To enhance vector safety, we used a replication-deficient strain (rdSeV) that infects target cells in a non-productive manner while retaining viral gene expression. In this study, we explored the impact that transduction with rdSeV has on human dendritic cells (DCs) by comparing it to the parental, replication-competent Sendai virus strain (rcSeV) as well as the poxvirus strain Modified Vaccinia Ankara (MVA)...
May 16, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29767691/thyroid-hormones-and-female-reproduction
#7
Juneo F Silva, Natália M Ocarino, Rogéria Serakides
Thyroid hormones are vital for the proper functioning of the female reproductive system, since they modulate the metabolism and development of ovarian, uterine and placental tissues. Therefore, hypo- and hyperthyroidism may result in subfertility or infertility in both women and animals. Other well-documented sequelae of maternal thyroid dysfunctions include menstrual/estral irregularity, anovulation, abortion, preterm delivery, preeclampsia, intrauterine growth restriction, postpartum thyroiditis, and mental retardation in children...
May 14, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29766469/proteinuric-glomerulopathy-in-an-adolescent-with-a-distal-partial-trisomy-chromosome-1
#8
Takaya Sasaki, Masahiro Okabe, Takeshi Tosaki, Yu Honda, Masahiro Ishikawa, Nobuo Tsuboi, Takashi Yokoo
We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29765978/factors-affecting-the-presence-of-adequately-iodized-salt-at-home-in-wolaita-southern-ethiopia-community-based-study
#9
Wondimagegn Paulos Kumma, Yusuf Haji, Junayde Abdurahmen, Yohannes Mehretie Adinew
Background: Universal use of iodized salt is a simple and inexpensive method to prevent and eliminate iodine deficiency disorders like mental retardation. However, little is known about the level of adequately iodized salt consumption in the study area. Therefore, the study was aimed at assessing the proportion of households having adequately iodized salt and associated factors in Wolaita Sodo town and its peripheries, Southern Ethiopia. Methods: A cross-sectional study was conducted from May 10 to 20, 2016, in 441 households in Sodo town and its peripheries...
2018: International Journal of Food Science
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#10
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29764405/urinary-iodine-concentration-and-thyroid-volume-of-pregnant-women-attending-antenatal-care-in-two-selected-hospitals-in-ashanti-region-ghana-a-comparative-cross-sectional-study
#11
Daniel Gyamfi, Yaw Amo Wiafe, Kwabena Owusu Danquah, Ernest Adankwah, Gertrude Akua Amissah, Angela Odame
BACKGROUND: Iodine deficiency is a major public health problem affecting people worldwide, particularly pregnant women. Iodine requirements increase substantially during pregnancy making pregnant women vulnerable to iodine deficiency and its disorders such as abortions, stillbirths and pregnancy goitre as well as congenital abnormalities, cretinism and mental retardation in their children. The primary aim of this study was to evaluate the prevalence of iodine deficiency and goitre among pregnant women attending antenatal sessions at two selected hospitals in Ashanti region, Ghana...
May 15, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29760651/human-dna-helicase-b-as-a-candidate-for-unwinding-secondary-cgg-repeat-structures-at-the-fragile-x-mental-retardation-gene
#12
Gulfem D Guler, Zev Rosenwaks, Jeannine Gerhardt
The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation ( FMR1 ) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. CGG repeats were reported to be able to form secondary structures, such as hairpins, in vitro . When such secondary structures are formed, repeats can lead to replication fork stalling even in the absence of any additional perturbation. Indeed, it was recently shown that the replication forks stall at the endogenous FMR1 locus in unaffected and FXS cells, suggesting the formation of secondary repeat structures at the FMR1 gene in vivo ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29759035/a-novel-missense-mutation-in-slc5a5-gene-in-a-sudanese-family-with-congenital-hypothyroidism
#13
Yui Watanabe, Reham Shareef Ebrhim, Mohamed A Abdullah, Roy E Weiss
Thyroid hormone synthesis requires the presence of iodide. The sodium iodide symporter (NIS) is a glycoprotein which mediates the active uptake of iodide from the blood stream into the thyroid grand. NIS defects due to SLC5A5 gene mutations are known to cause congenital hypothyroidism (CH). The proposita is a 28-year-old female whose origin is the North Sudan where neonatal screening for CH is not available. She presented with severe constipation and a goiter at the age of 40 days. Laboratory testing confirmed CH and she was started on levothyroxine (L-T4)...
May 15, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29752520/mucopolysaccharidoses-overview-of-neuroimaging-manifestations
#14
Manal Nicolas-Jilwan, Moeenaldeen AlSayed
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe...
May 11, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29750648/current-status-of-the-congenital-hypothyroidism-neonatal-screening-program-in-adana-province-turkey
#15
Yılmaz Kor, Deniz Kor
BACKGROUND: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. METHODS: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29746374/direct-saliva-real-time-polymerase-chain-reaction-assay-shows-low-birth-prevalence-of-congenital-cmv-infection-in-urban-western-india
#16
Rajlakshmi Viswanathan, Sanjay Bafna, Ravikanth Mergu, Gururajrao Deshpande, Rashmi Gunjikar, Shivshankar Gaikwad, Jayati Mullick
BACKGROUND: Congenital cytomegalovirus infection is the leading infectious cause of mental retardation, developmental delay and sensorineural deafness. Non primary infection plays a major role in transmission of this infection in countries with high maternal seroprevalence. Non invasive sampling and testing is a useful alternative to traditional methods of laboratory detection of congenital CMV infection. The present study was conducted to understand birth prevalence of congenital cytomegalovirus (cCMV) infection using molecular techniques, in an urban setting of a developing country with evidence of high maternal seroprevalence...
May 9, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29742058/neurological-manifestations-in-autoinflammatory-diseases
#17
REVIEW
Antonio Uccelli, Marco Gattorno
Autoinflammatory diseases (AIDs) are a distinct group of diseases characterised by a dysregulation of the innate immune response leading to systemic inflammation. The clinical spectrum of these conditions is extremely variable and possibly every system and tissue can be involved, including the central nervous system (CNS). Indeed, neurological manifestations may dominate the clinical picture from disease onset in some rare conditions. However, the involvement of the CNS in AIDs is not a disease in itself, but represents a rare complication which is consequent to a systemic or local immune response, mainly involving cells of the innate immunity...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29740858/novel-mutations-in-chinese-han-patients-with-tuberous-sclerosis-complex-case-series-and-review-of-the-published-work
#18
Li-Yun Zheng, Yu-Wei Lee, Yang Han, Li-Li Tang, Yu-Yan Cheng, Jin-Fa Dou, Fu-Sheng Zhou, Xiao-Dong Zheng, Hong-Yan Wang, Pei-Guang Wang, Min Gao
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing...
May 9, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29739092/satb2-associated-syndrome-a-case-report-of-a-de-novo-nonsense-mutation-in-satb2-from-china-and-review-of-literature
#19
Hong-Yan Lv, Rui-Jiang Zheng, Qiu-Li Wang, Peng-Shun Ren, Lin-Hong Jin, Xiu-Ling Gu, Lian-Xiang Li
BACKGROUND: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature. METHODS: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29737310/is-laparoscopic-approach-for-wandering-spleen-in-children-an-option
#20
REVIEW
Gratiana Oana Alqadi, Amulya K Saxena
Aim: Wandering spleen present generally as an acute abdomen after twisting of the splenic vascular pedicle. This study aimed to review the literature with regard to the management and outcomes of the laparoscopy in children with wandering spleen. Methods: The literature was reviewed for articles on PubMed with regard to the following search terms 'laparoscopy', 'wandering', 'spleen' and 'children'. The inclusion criteria included article only in the paediatric age group of 0-16...
May 4, 2018: Journal of Minimal Access Surgery
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