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Mental retardation

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https://www.readbyqxmd.com/read/28329522/multiple-miliary-osteoma-cutis-of-the-face-associated-with-albright-hereditary-osteodystrophy-in-the-setting-of-acne-vulgaris-a-case-report
#1
Joseph V Caravaglio, Rema Gupta, David Weinstein
Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328531/provider-variability-in-the-initial-diagnosis-and-treatment-of-congenital-hypothyroidism
#2
Luke Cielonko, Tyler Hamby, John S Dallas, Luke Hamilton, Don P Wilson
BACKGROUND: Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation. METHODS: A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe. RESULTS: Responses indicated some consensus that 10-15 μg of thyroid hormone/kg/day was the appropriate dosage...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28326016/early-origin-and-evolution-of-the-angelman-syndrome-ubiquitin-ligase-gene-ube3a
#3
REVIEW
Masaaki Sato
The human Ube3a gene encodes an E3 ubiquitin ligase and exhibits brain-specific genomic imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe mental retardation, speech impairment, seizure, ataxia and some unique behavioral phenotypes. In this review article, I highlight the evolution of the Ube3a gene and its imprinting to provide evolutionary insights into AS. Recent comparative genomic studies have revealed that Ube3a is most phylogenetically similar to HECTD2 among the human HECT (homologous to the E6AP carboxyl terminus) family of E3 ubiquitin ligases, and its distant evolutionary origin can be traced to common ancestors of fungi and animals...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28320872/the-drosophila-daxx-like-protein-dlp-cooperates-with-asf1-for-h3-3-deposition-and-heterochromatin-formation
#4
Catherine Fromental-Ramain, Philippe Ramain, Ali Hamiche
Histone variants are non-allelic isoforms of canonical histones and they are deposited, in contrast to canonical histones, in a replication-independent (RI) manner. RI deposition of H3.3, a histone variant from the H3.3 family, is mediated in mammals by distinct pathways involving either the histone regulator A (HIRA) complex or the death-associated protein (DAXX)/α-thalassemia X-linked mental retardation protein (ATRX) complex. Here, we investigated the function of Drosophila DAXX Like Protein (DLP) by using both fly genetics approaches and protein biochemistry...
March 20, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#5
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28303455/duodenal-cancer-in-a-young-patient-with-peuts-jeghers-syndrome-harboring-an-entire-deletion-of-the-stk11-gene
#6
Satoshi Teramae, Koichi Okamoto, Kumiko Tanaka, Reika Matsumoto, Shinji Kitamura, Tetsuo Kimura, Masahiro Sogabe, Hiroshi Miyamoto, Naoki Muguruma, Yoshimi Bando, Mitsuo Shimada, Tetsuji Takayama
A 21-year-old woman with Peuts-Jeghers syndrome (PJS) was referred to our hospital for gastrointestinal surveillance. She had been diagnosed as having PJS from a young age based on her family history and the presence of mucocutaneous pigmentation on her lips and oral mucosa. Her mother and brother had PJS harboring an entire deletion of the STK11 gene. She had tetralogy of Fallot, atrial tachycardia, sick sinus syndrome, and mental retardation in her past history. Esophagogastroduodenoscopy identified a protruded lesion with a depressed area that occupied the lumen half-circumferentially in the duodenal second portion and also showed a 10-mm protruded lesion on the anterior wall of the lower gastric body...
March 16, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28302006/transplantation-for-large-liver-tumors-in-the-setting-of-abernethy-malformation
#7
İlgin Özden, Ayşen Yavru, Mine Güllüoğlu, Aydin Alper, Orhan Bilge, Serdar Cantez, Özlem Durmaz
In this study, we report our experiences on the role of transplantation in 2 patients with large liver tumors in the setting of Abernethy malformation. Patient 1 was a 17-year-old boy who was referred for hepatic masses and recurrent hepatic encephalopathy episodes. Computed tomography and magnetic resonance imaging showed 2 large tumors (4 and 8 cm) in the liver. The portal vein drained directly into the vena cava. Core biopsy of the larger mass revealed fibrosis and regenerative hyperplasia. There were hyperintense signals in the T1-weighted images in the globus pallidus...
March 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28300915/onychogryphosis-in-tuberous-sclerosis-complex-an-unusual-feature
#8
Xiang-Chun Han, Li-Qiang Zheng, Tie-Gang Zheng
Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizures. Nail disease can also be associated, which is a concern to patients due to pain and nail distortion. We reported a typical tuberous sclerosis complex patient with distinctive clinical features of a ram's horn nails, which presented a great challenge to surgical treatment and nail restoration...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28294389/deciphering-the-molecular-effects-of-mutations-on-atrx-cause-atrx-syndrome-a-molecular-dynamics-study
#9
P Chandrasekaran, R Rajasekaran
α-thalassemia mental retardation X-linked (ATRX) syndrome is caused by the dysfunction of ATRX protein. The present study explored the structural consequences influenced by two observed mutations V194I and C220R on ADD domain of ATRX protein by applying all atom molecular dynamics (MD) simulation. MD result showed that both the mutants exhibited wide variations in their backbone dynamics, as a result, mutant V210I showed complete distortion on α3 and the mutant C220R displayed a biased disruption on α2-3...
March 10, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28293831/isolated-hearing-impairment-caused-by-spata5-mutations-in-a-family-with-variable-phenotypic-expression
#10
Krzysztof Szczałuba, Krystyna Szymańska, Joanna Kosińska, Agnieszka Pollak, Victor Murcia, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Urszula Demkow, Rafał Płoski
Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). Herein we describe a family in which two SPATA5 mutations with established pathogenicity (p.Thr330del and c.1714+1G>A) were found in the proband and her younger sister. The proband had a similar clinical picture to the previous descriptions of EHLMRS. In the sister, the only manifestation was an isolated sensorineural hearing loss...
March 15, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28293299/identification-of-epigenetic-signature-associated-with-alpha-thalassemia-mental-retardation-x-linked-syndrome
#11
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of histone H3 and DNA methylation, while mutations in the ATRX gene may lead to the downstream epigenetic and transcriptional effects. Elucidating the underlying epigenetic mechanisms altered in ATR-X will provide a better understanding about the pathobiology of this disease, as well as provide novel diagnostic biomarkers...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28274078/successful-management-of-the-masochistic-habit-in-a-child-with-santovuori-haltia-hagberg-disease-infantile-neuronal-ceriod-lipofuscinoses
#12
Laresh N Mistry, Shivayogi M Hugar, Vidyavathi H Patil, Punit Patel
Self-injurious behaviours are usually related to paediatric patients with mental retardation. The management of such patients is quiet challenging to the paediatric dentists because of the difficulty to communicate with such patients regarding their feelings verbally. Here, we present a case report of successful management of self-injurious behaviour in a child with Infantile Neuronal Ceriod Lipofuscinoses (INCL).
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28273706/-multiple-congenital-anomalies-hypotonia-seizures-syndrome-1-case-report-and-review-of-literature
#13
Y F Xu, N Li, G Q Li, X M Wang, Y F Zhou, L Yin, J Wang
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28272924/imprinting-of-maternal-thyroid-hormones-in-the-offspring
#14
María Cecilia Opazo, Henny Haensgen, Karen Bohmwald, Luis F Venegas, Helene Boudin, Alvaro A Elorza, Felipe Simon, Carlos Fardella, Susan M Bueno, Alexis M Kalergis, Claudia A Riedel
Thyroid hormones (THs) during pregnancy contribute significantly to cellular differentiation and development in several tissues of the offspring, principally the central nervous system (CNS). TH deficiencies, such as hypothyroidism or hypothyroxinemia, are highly frequent during pregnancy worldwide and known to be detrimental for the development of the fetus. The function of CNS in the offspring gestated under TH deficiency will be irreversible impaired, causing low intellectual quotient, attention deficit, and mental retardation...
March 8, 2017: International Reviews of Immunology
https://www.readbyqxmd.com/read/28272772/tusc3-a-novel-tumour-suppressor-gene-and-its-functional-implications
#15
REVIEW
Xinshuang Yu, Chunjuan Zhai, Yujun Fan, Jiandong Zhang, Ning Liang, Fengjun Liu, Lili Cao, Jia Wang, Juan Du
The tumour suppressor candidate 3 (TUSC3) gene is located on chromosome region 8p22 and encodes the 34 kD TUSC3 protein, which is a subunit of the oligosaccharyl transferase responsible for the N-glycosylation of nascent proteins. Known to be related to autosomal recessive mental retardation for several years, TUSC3 has only recently been identified as a potential tumour suppressor gene. Based on the structure and function of TUSC3, specific mechanisms in various diseases have been investigated. Several studies have demonstrated that TUSC3 is an Mg(2+) -transporter involved in magnesium transport and homeostasis, which is important for learning and memory, embryonic development and testis maturation...
March 8, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28271343/new-molecular-considerations-for-glioma-idh-atrx-braf-tert-h3-k27m
#16
REVIEW
Michael Karsy, Jian Guan, Adam L Cohen, Randy L Jensen, Howard Colman
PURPOSE OF REVIEW: This review will discuss the role of several key players in glioma classification and biology, namely isocitrate dehydrogenase 1 and 2 (IDH1/2), alpha thalassemia/mental retardation syndrome X-linked (ATRX), B-Raf (BRAF), telomerase reverse transcriptase (TERT), and H3K27M. RECENT FINDINGS: IDH1/2 mutation delineates oligoden-droglioma, astrocytoma, and secondary glioblastoma (GBM) from primary GBM and lower-grade gliomas with biology similar to GBM...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28270578/human-cytomegalovirus-micrornas-mir-us5-1-and-mir-ul112-3p-block-proinflammatory-cytokine-production-in-response-to-nf-%C3%AE%C2%BAb-activating-factors-through-direct-downregulation-of-ikk%C3%AE-and-ikk%C3%AE
#17
Meaghan H Hancock, Lauren M Hook, Jennifer Mitchell, Jay A Nelson
Emerging evidence indicates that human cytomegalovirus (HCMV) manipulates host cell signaling pathways using both proteins and noncoding RNAs. Several studies have shown that HCMV induces NF-κB signaling early in infection, resulting in the induction of antiviral proinflammatory cytokines with a subsequent reduction of these cytokines late in infection. The mechanism for late cytokine reduction is unknown. In this study, we show that HCMV microRNAs (miRNAs) miR-US5-1 and miR-UL112-3p target the IκB kinase (IKK) complex components IKKα and IKKβ to limit production of proinflammatory cytokines in response to interleukin 1β (IL-1β) and tumor necrosis factor alpha (TNF-α)...
March 7, 2017: MBio
https://www.readbyqxmd.com/read/28266018/cell-type-dependent-axonal-localization-of-translational-regulators-and-mrna-in-mouse-peripheral-olfactory-neurons
#18
Lulu I T Korsak, Katherine A Shepard, Michael R Akins
Local protein synthesis in mature axons may play a role in synaptic plasticity, axonal arborization, or functional diversity of the circuit. To gain insight into this question, we investigated the axonal localization of translational regulators and associated mRNAs in five parallel olfactory circuits, four in the main olfactory bulb and one in the accessory olfactory bulb. Axons in all four main olfactory bulb circuits exhibited axonal localization of Fragile X granules (FXGs), structures that comprise ribosomes, mRNA, and RNA binding proteins including the Fragile X protein FMRP (Fragile X mental retardation protein) and the related protein FXR2P...
March 7, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28259930/high-resolution-single-nucleotide-polymorphism-arrays-identified-an-atypical-microdeletion-of-the-williams-beuren-syndrome-interval-in-a-patient-presenting-with-a-different-phenotype
#19
Shijun Hu, Yifeng Yang, Lin Liu, Zhiping Tan, Tianli Zhao
The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1‑Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate...
March 3, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28258516/oxidative-stress-in-homocystinuria-due-to-cystathionine-%C3%A3-synthase-deficiency-findings-in-patients-and-in-animal-models
#20
REVIEW
Jéssica Lamberty Faverzani, Tatiane Grazieli Hammerschmidt, Angela Sitta, Marion Deon, Moacir Wajner, Carmen Regla Vargas
Homocystinuria is an inborn error of amino acid metabolism caused by deficiency of cystathionine ß-synthase (CBS) activity, biochemically characterized by homocysteine (Hcy) and methionine (Met) accumulation in biological fluids and high urinary excretion of homocystine. Clinical manifestations include thinning and lengthening of long bones, osteoporosis, dislocation of the ocular lens, thromboembolism, and mental retardation. Although the pathophysiology of this disease is poorly known, the present review summarizes the available experimental findings obtained from patients and animal models indicating that oxidative stress may contribute to the pathogenesis of homocystinuria...
March 3, 2017: Cellular and Molecular Neurobiology
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