keyword
MENU ▼
Read by QxMD icon Read
search

Mental retardation

keyword
https://www.readbyqxmd.com/read/28644427/mental-diseases-and-criminal-offences-committed-by-persons-placed-at-the-forensic-department-of-the-penitentiary-in-zenica-federation-of-bosnia-and-herzegovina
#1
Edin Bjelošević, Adisa Krehmić, Halima Hadžikapetanović, Sanel Čoralić, Sonja Bjelošević
Aim To investigate an impact of various biological, psychological and social factors on perpetration of criminal offences by persons with mental disorders and to examine legal requirements for placement of persons with mental disorders, who committed criminal offences. Methods This retrospective, descriptive study based on the analysis of data collected from records of the Zenica Penitentiary, Forensic Department (age, qualifications, employment status, marital status, mental disorders, information related to earlier treatments, type of committed criminal offense, duration of the security measure of mandatory psychiatric treatment and custody) included 154 examinees...
August 1, 2017: Medicinski Glasnik
https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#2
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#3
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#4
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28630650/a-maternally-inherited-8-05%C3%A2-mb-xq21-deletion-associated-with-choroideremia-deafness-and-mental-retardation-syndrome-in-a-male-patient
#5
Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
BACKGROUND: Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION: Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28627787/psychiatric-and-cognitive-characteristics-of-individuals-with-danon-disease-lamp2-gene-mutation
#6
Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28623238/a-normal-genetic-variation-modulates-synaptic-mmp-9-protein-levels-and-the-severity-of-schizophrenia-symptoms
#7
Katarzyna Lepeta, Katarzyna J Purzycka, Katarzyna Pachulska-Wieczorek, Marina Mitjans, Martin Begemann, Behnam Vafadari, Krystian Bijata, Ryszard W Adamiak, Hannelore Ehrenreich, Magdalena Dziembowska, Leszek Kaczmarek
Matrix metalloproteinase 9 (MMP-9) has recently emerged as a molecule that contributes to pathological synaptic plasticity in schizophrenia, but explanation of the underlying mechanisms has been missing. In the present study, we performed a phenotype-based genetic association study (PGAS) in > 1,000 schizophrenia patients from the Göttingen Research Association for Schizophrenia (GRAS) data collection and found an association between the MMP-9 rs20544 C/T single-nucleotide polymorphism (SNP) located in the 3'untranslated region (UTR) and the severity of a chronic delusional syndrome...
June 16, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28619046/identification-of-a-novel-ctcf-mutation-responsible-for-syndromic-intellectual-disability-a-case-report
#8
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor...
June 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28617074/autism-symptoms-in-fragile-x-syndrome
#9
Manman Niu, Ying Han, Angel Belle C Dy, Junbao Du, Hongfang Jin, Jiong Qin, Jing Zhang, Qinrui Li, Randi J Hagerman
Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined whether the symptoms in patients with FXS differ from the symptoms in patients without ASD or nonsyndromic ASD. Behavioral similarities and differences between FXS and ASD are important to improve our understanding of the causes and correlations of ASD with FXS...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28616095/acamprosate-in-a-mouse-model-of-fragile-x-syndrome-modulation-of-spontaneous-cortical-activity-erk1-2-activation-locomotor-behavior-and-anxiety
#10
Tori L Schaefer, Matthew H Davenport, Lindsay M Grainger, Chandler K Robinson, Anthony T Earnheart, Melinda S Stegman, Anna L Lang, Amy A Ashworth, Gemma Molinaro, Kimberly M Huber, Craig A Erickson
BACKGROUND: Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/inhibitory signaling balance, leading to increased neuronal hyperexcitability and altered behavior. Acamprosate (the calcium salt of N-acetylhomotaurinate), a drug FDA-approved for relapse prevention in the treatment of alcohol dependence in adults, is a novel agent with multiple mechanisms that may be beneficial for people with FXS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28615768/the-phenomenology-and-treatment-response-in-catatonia-a-hospital-based-descriptive-study
#11
Sarada Prasanna Swain, Sushree Sangita Behura, Manoj Kumar Dash
BACKGROUND: Literatures regarding clinical symptomatology and treatment response of catatonia are very few. OBJECTIVE: To assess onset, clinical profile, diagnostic break up, treatment response and outcome in patients diagnosed as Catatonia, reported to a tertiary care hospital. METHODS: The present study was a cross-sectional descriptive study conducted in indoor of Mental Health Institute (Centre of Excellence), S.C.B. Medical College, between March 2015 to March 2016...
May 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28615204/human-cytomegalovirus-ie2-protein-disturbs-brain-development-by-dysregulating-neural-stem-cell-maintenance-and-the-polarization-of-migrating-neurons
#12
Dasol Han, Sung-Hyun Byun, Juwan Kim, Mookwang Kwon, Samuel J Pleasure, Jin-Hyun Ahn, Keejung Yoon
Despite the high incidence of severe defects in the central nervous system caused by human cytomegalovirus (HCMV) congenital infection, the mechanism of HCMV neuropathogenesis and the roles of individual viral genes have not yet been fully determined. In this study, we show that the immediate-early 2 (IE2) protein may play a key role in HCMV-caused neurodevelopmental disorders. IE2-transduced neural progenitor cells gave rise to neurospheres with a lower frequency and produced smaller neurospheres than control cells in vitro, indicating reduction of self-renewal and expansion of neural progenitors by IE2...
June 14, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28612854/fragile-x-mental-retardation-protein-recognizes-a-g-quadruplex-structure-within-the-survival-motor-neuron-domain-containing-1-mrna-5-utr
#13
Damian S McAninch, Ashley M Heinaman, Cara N Lang, Kathryn R Moss, Gary J Bassell, Mihaela Rita Mihailescu, Timothy L Evans
G quadruplex structures have been predicted by bioinformatics to form in the 5'- and 3'-untranslated regions (UTRs) of several thousand mature mRNAs and are believed to play a role in translation regulation. Elucidation of these roles has primarily been focused on the 3'-UTR, with limited focus on characterizing the G quadruplex structures and functions in the 5'-UTR. Investigation of the affinity and specificity of RNA binding proteins for 5'-UTR G quadruplexes and the resulting regulatory effects have also been limited...
June 14, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28612538/-risk-factors-and-prognosis-of-secondary-epilepsy-in-children-with-viral-encephalitis
#14
Liang Huang, Dan Yu, Rong Luo, Min Li, Hui Zhou, Xiao-Tang Cai, Zhi-Ling Wang
OBJECTIVES: To investigate the clinical features of viral encephalitis in children at acute stage, and the relationship of these clinical features with post viral encephalitic epilepsy. METHODS: The children with viral encephalitis treated in West China Second University Hospital between January 2010 and January 2014 were enrolled. The clinical features included general conditions, clinical manifestations, video electroencephalogram (VEEG), neuroimaging, virology, prognosis and antiepileptic drugs...
March 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28612295/neuroprotective-effect-of-creatine-and-pyruvate-on-enzyme-activities-of-phosphoryl-transfer-network-and-oxidative-stress-alterations-caused-by-leucine-administration-in-wistar-rats
#15
Elenara Rieger, Itiane Diehl de Franceschi, Thales Preissler, Clovis Milton Duval Wannmacher
Maple syrup urine disease is an autosomal metabolic disease caused by a deficiency of branched-chain α-keto acid dehydrogenase complex activity. In this disease occur the accumulation of the branched-chain amino acids leucine, isoleucine, and valine and their corresponding branched-chain α-keto acids in the tissues and body fluids. The affected patients may present psychomotor development delay and mental retardation. The pathophysiology of maple syrup urine disease is not entirely understood, but leucine seems to be the primary neurotoxic metabolite...
June 13, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28612063/bioelements-in-hair-of-children-with-selected-neurological-disorders
#16
Jan Józefczuk, Wiktoria Kasprzycka, Rafał Czarnecki, Alfreda Graczyk, Paweł Józefczuk, Magda Krzysztof, Urszula Lampart, Ewa Mrozowska-Ząbek, Weronika Surdy, Róża Kwiatkowska-Graczyk
We have analyzed concentrations of magnesium (Mg), calcium (Ca), copper (Cu), zinc (Zn) and iron (Fe) in hair of a group of 82 children with mental retardation, in which 9 patients suffered from epilepsy, 18 from the Down's syndrome and 55 from cerebral palsy. Girls comprised little over 50% of the patients. In the group of boys with epilepsy, we found Mg, Ca, Cu and Fe deficiency, and normal level of Zn. In the group of girls with epilepsy, apart from low Fe concentration, a high level of Ca, Mg, Zn, and Cu was noted...
2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/28607822/carotid-artery-occlusion-in-kabuki-syndrome-case-report-and-literature-review
#17
Luana A M Gatto, Luis Henrique A Sousa, Gelson Luis Koppe, Zeferino Demartini
BACKGROUND: Kabuki syndrome is a rare multiple congenital anomaly syndrome whose main diagnostic findings are craniofacial phenotypic changes and mental retardation. Organic structural lesions in the central nervous system are rare, although have been described already. Systemic vascular changes have also been reported rarely. CASE DESCRIPTION: We report the case of a young patient with Kabuki syndrome who had a transient ischemic attack due to dissection of the internal carotid artery and a likely gliosis area on the white matter...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28604964/-phenotypic-and-genetic-analysis-of-a-boy-with-partial-trisomy-of-1q
#18
Dong Wu, Hui Zhang, Hongdan Wang, Qiaofang Hou, Tao Wang, Tao Li, Yanli Yang, Shixiu Liao
OBJECTIVE: To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities. METHODS: The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay. RESULTS: The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604960/-analysis-of-uqcrb-gene-mutation-in-a-child-with-mitochondrial-complex-iii-deficiency
#19
Ting Zhang, Fang Hong, Guling Qian, Fan Tong, Xuelian Zhou, Xiaolei Huang, Rulai Yang, Xinwen Huang
OBJECTIVE: To delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency. METHODS: Clinical information and results of auxiliary examination of the patient were analyzed. Next-generation sequencing of the mitochondrial genome and related nuclear genes was carried out. Suspected mutation was confirmed in both parents with Sanger sequencing. Heterozygous deletion was mapped with chromosomal microarray analysis and confirmed with real-time PCR...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28602015/clinical-and-genetic-analysis-of-indian-patients-with-ndp-related-retinopathies
#20
Dhandayuthapani Sudha, Aparna Ganapathy, Puja Mohan, Ashraf U Mannan, Shuba Krishna, Srividya Neriyanuri, Meenakshi Swaminathan, Pukhraj Rishi, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam
PURPOSE: NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies. METHODS: The patients underwent complete ophthalmic examination followed by genetic analyses...
June 10, 2017: International Ophthalmology
keyword
keyword
9385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"