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Mental retardation

Memi Muto, Wataru Kamitani, Mizuki Sakai, Minato Hirano, Shintaro Kobayashi, Hiroaki Kariwa, Kentaro Yoshii
Tick-borne encephalitis virus (TBEV) causes severe neurological disease, but the pathogenetic mechanism is unclear. The conformational structure of the 3'-untranslated region (UTR) of TBEV is associated with its virulence. We tried to identify host proteins interacting with the 3'-UTR of TBEV. Cellular proteins of HEK293T cells were co-precipitated with biotinylated RNAs of the 3'-UTR of low- and high-virulence TBEV strains and subjected to mass spectrometry analysis. Fifteen host proteins were found to bind to the 3'-UTR of TBEV, four of which- cold shock domain containing-E1 (CSDE1), spermatid perinuclear RNA binding protein (STRBP), fragile X mental retardation protein (FMRP), and interleukin enhancer binding factor 3 (ILF3)-bound specifically to that of the low-virulence strain...
March 12, 2018: Virus Research
A V Dolzhich, S E Avetisov
PURPOSE: to assess the neurophysiological effect and clinical effectiveness of transcranial direct current stimulation in combination with drug therapy in amblyopic children. MATERIAL AND METHODS: The study involved 32 healthy children in the age of 5-12 years and 97 patients of the same age with refractive strabismic amblyopia. All study subjects underwent standard examination including ophthalmological (visometry, refractometry in normal conditions and in cycloplegia, biomicroscopy, ophthalmoscopy, type of vision), neurophysiological methods (determination of retinal electric sensitivity threshold, electric lability of optic nerve, amplitude and latency period of visual evoked potentials, electroencephalogram wave amplitudes, localization of peak electrical activity area of the cerebral cortex), assessment of neuropsychic development and estimation of mental development coefficient with age tests...
2018: Vestnik Oftalmologii
Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, Masaaki Shiina, Hazrat Belal, Souichi Mukaida, Satoko Kumada, Atsushi Sato, Ayelet Zerem, Tally Lerman-Sagie, Dorit Lev, Huey Yin Leong, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
OBJECTIVE: The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WAVE regulatory complex, which is involved in actin dynamics. An obvious association of CYFIP2 variants with human neurological disorders has never been reported. Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore the possible involvement of the CYFIP2 mutants in the WAVE signaling pathway. METHODS: We performed trio-based whole exome sequencing (WES) in 210 families and case-only WES in 489 individuals with epileptic encephalopathies...
March 13, 2018: Annals of Neurology
Takuya Furuta, Hiroaki Miyoshi, Satoru Komaki, Fumiko Arakawa, Motohiro Morioka, Koichi Ohshima, Mitsutoshi Nakada, Yasuo Sugita
Epithelioid glioblastoma (eGBM) is a rare variant of GBM which was adopted in the 2016 WHO classification. eGBM and pleomorphic xanthoastrocytoma (PXA) sometimes show overlapping features histologically and genetically, such as epithelioid pattern and a highly frequent V600E mutation in the gene for vRAF murine sarcoma viral oncogene homolog B1 (BRAF), respectively. Accurate diagnosis of these rare tumors is challenging according to the new criteria in the revised 2016 WHO classification. It is an urgent task to elucidate the biological properties of the tumors and to select appropriate treatment...
March 13, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Tomohiro Sakaguchi, Tamara Žigman, Danijela Petković Ramadža, Lana Omerza, Silvija Pušeljić, Zrinka Ereš Hrvaćanin, Noriko Miyake, Naomichi Matsumoto, Ivo Barić
Biallelic mutations in the post-GPI attachment to proteins 3 ( PGAP3 ) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.
2018: Human Genome Variation
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait...
2018: Journal of Central Nervous System Disease
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Kazuchika Suzuki, Hiroaki Sakai, Kenji Takahashi
We herein report anesthetic management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II (MPS type 2) (Hunter syndrome). This disorder is rare and related to the accumulation of a mucopolysaccharide in lysosomes. It affects various organs, including the airways, heart, and central nerves. In children with MPS type 2, the risk of airway obstruction during anesthesia/sedation is high, and the degree of difficulty increases with aging. The patient described herein was a 33-year-old male without mental retardation...
2018: JA Clin Rep
Z M Liu, F Fang, C H Ding, W H Zhang, J Deng, C H Chen, X Wang, J Liu, Z Li, X L Jia, J S Zeng, S Y Qian
Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. Results: The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
Nitash Zwaveling-Soonawala, Paul van Trotsenburg
Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis)...
March 2018: Pediatric Endocrinology Reviews: PER
S Waqar H Shah, Arshad K Butt, K Malik, Altaf Alam, Adnan Shahzad, Anwaar A Khan
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia...
November 2017: Pakistan Journal of Medical Sciences Quarterly
Prabhakar S Kedar, Vinod Gupta, Prashant Warang, Ashish Chiddarwar, Manisha Madkaikar
OBJECTIVE: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. METHODS: Eight cases of RCM have been addressed to our laboratory in order to investigate the cause of cyanosis associated with genetic disorders. NADH-cytochrome b5 reductase (cytb5r) enzyme activities were measured by standard methods, and molecular analysis was performed by polymerase chain reaction (PCR) followed by DNA sequencing...
February 27, 2018: Hematology (Amsterdam, Netherlands)
Pingping Zhu, Jialing Li, Liting Zhang, Zhanrong Liang, Bin Tang, Wei-Ping Liao, Yong-Hong Yi, Tao Su
Kv1.1, a Shaker homologue potassium channel, plays a critical role in homeostatic regulation of neuronal excitability. Aberrations in the functional properties of Kv1.1 have been implicated in several neurological disorders featured by neuronal hyperexcitability. Fragile X syndrome (FXS), the most common form of inherited mental retardation, is characterized by hyperexcitability in neural network and intrinsic membrane properties. The Kv1.1 channel provides an intriguing mechanistic candidate for FXS. We investigated the development-related expression pattern of the Kv1...
February 23, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Giulia Pascolini, Emanuele Agolini, Silvia Majore, Antonio Novelli, Paola Grammatico, Maria Cristina Digilio
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype...
February 3, 2018: European Journal of Paediatric Neurology: EJPN
Shahrbanoo Nakhaei, Hamed Heidary, Aliasghar Rahimian, Mahdi Vafadar, Farzaneh Rohani, Gholam Reza Bahoosh, Davoud Amirkashani
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as a new case of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5...
February 24, 2018: Iranian Biomedical Journal
Claudine M Kraan, Kim M Cornish, Quang M Bui, Xin Li, Howard R Slater, David E Godler
Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions support the pathogenic role of RNA gain of function toxicity in premutation (PM: 55-199 CGGs) related disorders. Real-time PCR (RT-PCR) studies reporting these findings normalised FMR1 mRNA level to a single internal control gene called β-glucuronidase (GUS). This study evaluated FMR1 mRNA-CGG correlations in 33 PM and 33 age- and IQ-matched control females using three normalisation strategies in peripheral blood mononuclear cells (PBMCs): (i) GUS as a single internal control; (ii) the mean of GUS, Eukaryotic Translation Initiation Factor 4A2 (EIF4A2) and succinate dehydrogenase complex flavoprotein subunit A (SDHA); and (iii) the mean of EIF4A2 and SDHA (with no contribution from GUS)...
2018: PloS One
Rena Pombo, Etta Johnson, Alejandra Gamboa, Bennet Omalu
Manic episodes induced by antidepressant withdrawal are rarely reported. Mirtazapine is a tetracyclic, piperazinoazepine compound and is a noradrenergic, adrenergic, serotonergic, histaminergic, and muscarinic-antagonist antidepressant that is used for the treatment of major depression and other psychiatric illnesses. There are several reported cases of manic/hypomanic episodes induced by mirtazapine withdrawal based on suspected clinical symptoms that were not confirmed by autopsy and toxicology. We present the first reported case of mirtazapine withdrawal-induced mania/hypomania associated with sudden death and confirmed by autopsy and toxicology...
October 2017: Journal of Pharmacology & Pharmacotherapeutics
Anouar Khayachi, Carole Gwizdek, Gwénola Poupon, Damien Alcor, Magda Chafai, Frédéric Cassé, Thomas Maurin, Marta Prieto, Alessandra Folci, Fabienne De Graeve, Sara Castagnola, Romain Gautier, Lenka Schorova, Céline Loriol, Marie Pronot, Florence Besse, Frédéric Brau, Emmanuel Deval, Barbara Bardoni, Stéphane Martin
Fragile X syndrome (FXS) is the most frequent inherited cause of intellectual disability and the best-studied monogenic cause of autism. FXS results from the functional absence of the fragile X mental retardation protein (FMRP) leading to abnormal pruning and consequently to synaptic communication defects. Here we show that FMRP is a substrate of the small ubiquitin-like modifier (SUMO) pathway in the brain and identify its active SUMO sites. We unravel the functional consequences of FMRP sumoylation in neurons by combining molecular replacement strategy, biochemical reconstitution assays with advanced live-cell imaging...
February 22, 2018: Nature Communications
Yosuke Yagi, Yutaka Kuwatsuka, Misachi Asai, Mai Honda, Atsushi Utani
Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma. We also performed a literature search, which identified the possible involvement of the Wnt/β-catenin signaling pathway in the pathogenesis of these two skin lesions...
January 15, 2018: Dermatology Online Journal
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