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Mental retardation

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https://www.readbyqxmd.com/read/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#1
Hatem S Shehata, Hadeer Mahmoud AbdelGhaffar, Mohammed Nasreldin, Alaa Elmazny, Ahmed Abdelalim, Asmaa Sabbah, Nevin M Shalaby
INTRODUCTION: Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE: To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS AND METHODS: This observational, prospective study was carried out on 36 Egyptian children with definite TSC...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#2
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28719137/neocortical-developmental-analysis-of-vasculature-and-their-growth-factors-offer-new-insight-into-fragile-x-syndrome-abnormalities
#3
Amogh P Belagodu, Stephen Fleming, Roberto Galvez
Fragile X Syndrome (FXS) is the most common single gene cause for Autism Spectrum Disorder and the most prevalent form of inherited mental retardation. Our prior studies have demonstrated that adult FXS mice have abnormal blood vessel density (BVD) and elevated Vascular Endothelial Growth Factor A expression (VEGF-A). VEGF-A is one of the most prominent regulators of BVD, and its abnormal expression is the most likely cause for FXS BVD abnormalities. We have demonstrated that attenuating elevated VEGF-A expression can ameliorate many non-vascular FXS abnormalities(Belagodu et al...
July 18, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28719003/mutation-intolerant-genes-and-targets-of-fmrp-are-enriched-for-nonsynonymous-alleles-in-schizophrenia
#4
Ganna Leonenko, Alexander L Richards, James T Walters, Andrew Pocklington, Kimberly Chambert, Mariam M Al Eissa, Sally I Sharp, Niamh L O'Brien, David Curtis, Nicholas J Bass, Andrew McQuillin, Christina Hultman, Jennifer L Moran, Steven A McCarroll, Pamela Sklar, Benjamin M Neale, Peter A Holmans, Michael J Owen, Patrick F Sullivan, Michael C O'Donovan
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls)...
July 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28718266/a-case-of-13-year-old-girl-with-prolidase-deficiency
#5
Arshad Khushdil, Fatima Murtaza
Prolidase deficiency is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with facial dysmorphism and mental retardation. We report a 13-year-old girl who has clinical manifestation of Proliodase deficiency. It is a very rare disorder and no such case has been reported so far from Pakistan.
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#6
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28714487/screening-mentally-retarded-children-for-inborn-errors-of-metabolism
#7
N K Shreevastava, A S Pandey
BACKGROUND: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide for detection of inborn errors of metabolism. The purpose of the study is to determine the prevalence of inborn error of metabolism in mentally retarded children. METHODS: Random urine samples were collected from mentally retarded children at two institutes in Kathmandu, and also from 60 normal children from Duwakot, Nepal after obtaining consent from their parents...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28708947/kv10-1-potassium-channel-from-the-brain-to-the-tumors
#8
Verna Cázares-Ordoñez, Luis A Pardo
<i>KCNH1</i> gene encodes the Kv10.1 (Eag1) ion channel, a member of the EAG (ether-à-go-go) family of voltage-gated potassium channels. Recent studies have demonstrated that <i>KCHN1</i> mutations are implicated in Temple-Baraitser and Zimmermann-Laband syndromes and other forms of developmental deficits that all present with mental retardation and epilepsy, suggesting that Kv10.1 might be important for cognitive development in human. Although Kv10.1 channel is mainly expressed in the mammalian brain, its ectopic expression occurs in 70% of human cancers...
July 14, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28706256/an-extremely-high-dietary-iodide-supply-forestalls-severe-hypothyroidism-in-na-i-symporter-nis-knockout-mice
#9
Giuseppe Ferrandino, Rachel R Kaspari, Andrea Reyna-Neyra, Nabil E Boutagy, Albert J Sinusas, Nancy Carrasco
The sodium/iodide symporter (NIS) mediates active iodide (I(-)) accumulation in the thyroid, the first step in thyroid hormone (TH) biosynthesis. Mutations in the SLC5A5 gene encoding NIS that result in a non-functional protein lead to congenital hypothyroidism due to I(-) transport defect (ITD). ITD is a rare autosomal disorder that, if not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improper development of the nervous system. However, in some patients, hypothyroidism has been ameliorated by unusually large amounts of dietary I(-)...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28706188/lack-of-social-support-raises-stress-vulnerability-in-rats-with-a-history-of-ancestral-stress
#10
Jamshid Faraji, Nabiollah Soltanpour, Hamid Lotfi, Reza Moeeini, Ali-Reza Moharreri, Shabnam Roudaki, S Abedin Hosseini, David M Olson, Ali-Akbar Abdollahi, Nasrin Soltanpour, Majid H Mohajerani, Gerlinde A S Metz
Stress is a primary risk factor for psychiatric disorders. However, it is not fully understood why some stressed individuals are more vulnerable to psychiatric disorders than others. Here, we investigated whether multigenerational ancestral stress produces phenotypes that are sensitive to depression-like symptoms in rats. We also examined whether social isolation reveals potentially latent sensitivity to depression-like behaviours. F4 female rats born to a lineage of stressed mothers (F0-F3) received stress in adulthood while housed in pairs or alone...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704707/a-founder-mutation-underlies-a-severe-form-of-phosphoglutamase-3-pgm3-deficiency-in-tunisian-patients
#11
Leila Ben-Khemis, Najla Mekki, Imen Ben-Mustapha, Karen Rouault, Fethi Mellouli, Monia Khemiri, Mohamed Bejaoui, Leila Essaddam, Saayda Ben-Becher, Lamia Boughamoura, Saida Hassayoun, Meriem Ben-Ali, Mohamed-Ridha Barbouche
Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients. They belong to three highly consanguineous families, originating from a rural district in the west central Tunisia...
July 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28702108/acute-abdomen-in-a-mentally-retarded-patient-cecal-volvulus
#12
Ebubekir Gündeş, Nedim Akgül, Mustafa Mazıcan, Ulaş Aday, Durmuş Ali Çetin, Hüseyin Çiyiltepe
No abstract text is available yet for this article.
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#13
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#14
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28694400/-co-occurrence-of-carpenter-syndrome-and-double-outlet-right-ventricle
#15
Osman Güvenç, Derya Çimen, Derya Arslan, İbrahim Güler
Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle...
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28691460/the-%C3%A2-elfin-face%C3%A2-craniofacial-and-dental-aspects-of-the-williams-beuren-syndrome
#16
V Maurino, L Azzi, R Vinci, F Croveri, A Boggio, J Silvestre-Rangil, L Tettamanti, A Tagliabue
Williams Syndrome is a rare congenital disorder characterized by supravalvular aortic stenosis, peripheral pulmonary artery stenosis, mental retard and dysmorfic facial features. As regards the dental aspects of the syndrome, the deletion of the elastin gene induced clinicians to suspect periodontal alterations with a greater frequency of gingivo-periodontitis, but on the contrary no association between the syndrome and periodontal diseases have been found. Furthermore, patients show a higher frequency of teeth hypoplasia, an abnormal tooth morphology during primary dentition (12...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#17
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#18
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690990/predictors-of-transient-congenital-hypothyroidism-in-children-with-eutopic-thyroid-gland
#19
Il Soon Park, Jong Seo Yoon, Cheol Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland. METHODS: We retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690988/intellectual-development-in-preschool-children-with-early-treated-congenital-hypothyroidism
#20
Min Kyoung Seo, Jong Seo Yoon, Chul Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH. METHODS: We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence...
June 2017: Annals of Pediatric Endocrinology & Metabolism
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