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Mental retardation

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https://www.readbyqxmd.com/read/27924288/hysterectomy-due-to-abnormal-uterine-bleeding-in-a-15-year-old-girl-with-rubinstein-taybi-syndrome
#1
Kwang Ho Lee, Eun Young Park, Sang Woo Jung, Seung Woo Song, Hyun Kyo Lim
Rubinstein-Taybi syndrome is characterized by mental retardation, atypical facial features, broad thumbs and toes, and scoliosis. Polycystic ovaries are associated with chronic anovulation and abnormal uterine bleeding. A 15-year old female patient was diagnosed with Rubinstein-Taybi Syndrome, and had prolonged abnormal uterine bleeding for 2 years, accompanied by a polycystic ovary. As she showed no improvement during hormonal therapy or medical treatment, a hysterectomy was performed to control the bleeding...
September 2016: Journal of Lifestyle Medicine
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#3
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27920683/squamous-cell-carcinoma-in-african-children-with-xeroderma-pigmentosum-three-case-reports
#4
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop
INTRODUCTION: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27916859/postnatal-gene-therapy-improves-spatial-learning-despite-the-presence-of-neuronal-ectopia-in-a-model-of-neuronal-migration-disorder
#5
Huaiyu Hu, Yu Liu, Kevin Bampoe, Yonglin He, Miao Yu
Patients with type II lissencephaly, a neuronal migration disorder with ectopic neurons, suffer from severe mental retardation, including learning deficits. There is no effective therapy to prevent or correct the formation of neuronal ectopia, which is presumed to cause cognitive deficits. We hypothesized that learning deficits were not solely caused by neuronal ectopia and that postnatal gene therapy could improve learning without correcting the neuronal ectopia formed during fetal development. To test this hypothesis, we evaluated spatial learning of cerebral cortex-specific protein O-mannosyltransferase 2 (POMT2, an enzyme required for O-mannosyl glycosylation) knockout mice and compared to the knockout mice that were injected with an adeno-associated viral vector (AAV) encoding POMT2 into the postnatal brains with Barnes maze...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27916452/the-normal-range-of-fmr1-triple-cgg-repeats-may-be-associated-with-primary-ovarian-insufficiency-in-china
#6
Cui-Ling Lu, Rong Li, Xin-Na Chen, Yang-Ying Xu, Li-Ying Yan, Jie Yan, Yao-Yao Zhang, Hong-Yan Jin, Wen-Xin Zhang, Jie Qiao, Xiu-Mei Zhen
The aim of this study was to investigate the relationship between normal Fragile X mental retardation gene 1 (FMR1) CGG repeat numbers and primary ovarian insufficiency (POI) occurrence or subsequent resumption of ovarian function. A total of 122 women with POI and 105 controls were followed up and analysed in our centre. The prevalence of premutation and intermediate range of FMR1 CGG repeats in Han Chinese women with POI was only 0.81% (1/122) and 1.64% (2/122), respectively. The risk of POI occurrence for less than 26 CGG repeats and 29 or more CGG repeats in allele1 (smaller allele) was significantly higher than that for 26-28 CGG repeats (odds ratio 13...
November 15, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27905826/gamification-in-healthcare-perspectives-of-mental-health-service-users-and-health-professionals
#7
Hanna Hopia, Katja Raitio
The purpose of this descriptive qualitative study is to explore the perceptions and experiences that mental health service users (n = 10) and healthcare professionals (n = 32) have regarding the use of gamification in mental health care. Data was gathered by interviews. The mental health service users described promoting and retarding factors in the use of gamification, while professionals described the requirements for using gamification and changes occurring in the work culture. Additional research is needed on how game-playing elements could be integrated as a systematic part of mental health practice and how the digital skills of professionals could be effectively developed...
December 1, 2016: Issues in Mental Health Nursing
https://www.readbyqxmd.com/read/27902989/plasma-levels-of-leptin-and-adiponectin-in-fragile-x-syndrome
#8
Małgorzata Zofia Lisik, Ewa Gutmajster, Aleksander L Sieroń
: Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene, resulting in the transcriptional silencing of the gene. Leptin may be considered a cytokine-like hormone with pleiotropic actions since it may be involved in the regulation of neuroendocrine functions and the immune system response, in addition to playing a role in development...
December 1, 2016: Neuroimmunomodulation
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#9
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27891365/visual-function-and-ocular-status-in-children-with-disabilities-in-special-schools-of-northern-india
#10
Gurvinder Kaur, Satish Thomas, Mahesh Jindal, S M Bhatti
INTRODUCTION: Children with disabilities (other than visual impairment) are at a higher risk of visual impairment as compared to normal population. Majority of the ocular disorders, like refractive errors and strabismus, are easily treatable. As these children depend on their visual inputs for social and academic activities, an early detection and prompt treatment of even a minor visual problem is of utmost importance for them. AIM: To assess the visual function and ocular status of children with disabilities other than visual impairment and to identify the preventable and treatable causes of visual impairment...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27882234/dysgerminoma-developing-from-an-ectopic-ovary-in-a-patient-with-wagr-syndrome-a-case-report
#11
Rie Miura, Yoshihito Yokoyama, Tatsuhiko Shigeto, Masayuki Futagami, Hideki Mizunuma, Akira Kurose, Kazushi Tsuruga, Shinya Sasaki, Kiminori Terui, Etsuro Ito
WAGR syndrome is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and mental retardation. We encountered a case of a dysgerminoma originating in an ectopic ovary in a woman with WAGR syndrome. Our patient was a 24-year-old nulliparous woman who was diagnosed with WAGR syndrome. The patient had undergone left nephrectomy for a Wilms' tumor and postoperative chemotherapy at the age of 7 months. She also had a history of glaucoma surgery in both eyes, and was followed up at the Department of Pediatrics for diabetes mellitus, hypertension, liver dysfunction and hyperuricemia...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27880953/deletion-of-top3b-is-associated-with-cognitive-impairment-and-facial-dysmorphism
#12
Carolyn S Kaufman, Ann Genovese, Merlin G Butler
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features...
November 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27880066/features-of-kat6b-related-disorders-in-a-patient-with-10q22-1q22-3-deletion
#13
Egle Preiksaitiene, Birutė Tumienė, Živilė Maldžienė, Erinija Pranckevičienė, Aušra Morkūnienė, Algirdas Utkus, Vaidutis Kučinskas
BACKGROUND: Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare facial malformation and is considered an important diagnostic feature in dysmorphic analysis. It is likely that many patients with blepharophimosis-mental retardation syndrome have submicroscopic chromosomal rearrangements, and the use of molecular karyotyping can narrow the known blepharophimosis-mental retardation-critical regions or clarify the effect of the haploinsufficiency of the involved genes on the phenotype...
November 23, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27878784/a-population-based-study-of-prevalence-of-down-syndrome-in-southern-thailand
#14
Somchit Jaruratanasirikul, Ounjai Kor-Anantakul, Montira Chowvichian, Wannee Limpitikul, Pathikan Dissaneevate, Nitthakarn Intharasangkanawin, Atchara Sattapanyo, Sermsri Pathompanitrat
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder that causes mental retardation. In 2009, a population-based birth defects study was implemented in three provinces in southern Thailand. This study aimed to determine the prevalence of DS in the studied regions, and the proportion of DS fetuses detected by prenatal screening. METHODS: Data were obtained from a population-based surveillance study undertaken during 2009-2013. Entries in the birth defects registry included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following prenatal diagnosis...
November 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27876900/the-common-zoonotic-protozoal-diseases-causing-abortion
#15
REVIEW
Raafat Mohamed Shaapan
Toxoplasmosis, neosporosis, sarcosporidiosis (sarcocystosis) and trypanosomiasis are the common zoonotic protozoal diseases causing abortion which caused by single-celled protozoan parasites; Toxoplasma gondii, Neospora caninum, Sarcocystis spp and Trypanosoma evansi, respectively. Toxoplasmosis is generally considered the most important disease that causing abortion of both pregnant women and different female animals throughout the world, about third of human being population had antibodies against T. gondii...
December 2016: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/27876883/identification-of-small-molecule-compounds-for-pharmacological-chaperone-therapy-of-aspartylglucosaminuria
#16
Antje Banning, Christina Gülec, Juha Rouvinen, Steven J Gray, Ritva Tikkanen
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder that is caused by genetic deficiency of the enzyme aspartylglucosaminidase (AGA) which is involved in glycoprotein degradation. AGU is a progressive disorder that results in severe mental retardation in early adulthood. No curative therapy is currently available for AGU. We have here characterized the consequences of a novel AGU mutation that results in Thr122Lys exchange in AGA, and compared this mutant form to one carrying the worldwide most common AGU mutation, AGU-Fin...
November 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27871568/discrepancy-between-electroencephalography-and-hemodynamics-in-a-patient-with-cockayne-syndrome-during-general-anesthesia
#17
Masanori Tsukamoto, Takashi Hitosugi, Takeshi Yokoyama
Cockayne syndrome is a kind of progeria with autosomal chromosome recessiveness described first by Cockayne in 1936. Patients with this syndrome were characterized by retarded growth, cerebral atrophy, and mental retardation. We experienced an anesthetic management of a patient with Cockayne syndrome, who underwent dental treatment twice. The primary concern was discrepancy between electroencephalography and hemodynamics. The values of bispectral index showed a sharp fall to 1 digit and suppression ratio more than 40, while hemodynamics was stable during induction of anesthesia with sevoflurane 8%...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27871432/a-novel-mutation-in-pgap2-gene-causes-developmental-delay-intellectual-disability-epilepsy-and-microcephaly-in-consanguineous-saudi-family
#18
Muhammad Imran Naseer, Mahmood Rasool, Mohammed M Jan, Adeel G Chaudhary, Peter Natesan Pushparaj, Adel M Abuzenadah, Mohammad H Al-Qahtani
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27869431/-deletion-on-the-short-arm-of-chromosome-18-syndrome-diagnosed-by-array-comparative-genomic-hybridization-presentation-of-one-case-with-a-mild-phenotype
#19
Harry Pachajoa
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27865451/astrocytic-contributions-to-synaptic-and-learning-abnormalities-in-a-mouse-model-of-fragile-x-syndrome
#20
Jennifer L Hodges, Xinzhu Yu, Anthony Gilmore, Hannah Bennett, Michelle Tjia, James F Perna, Chia-Chien Chen, Xiang Li, Ju Lu, Yi Zuo
BACKGROUND: Fragile X syndrome (FXS) is the most common type of mental retardation attributable to a single-gene mutation. It is caused by FMR1 gene silencing and the consequent loss of its protein product, fragile X mental retardation protein. Fmr1 global knockout (KO) mice recapitulate many behavioral and synaptic phenotypes associated with FXS. Abundant evidence suggests that astrocytes are important contributors to neurological diseases. This study investigates astrocytic contributions to the progression of synaptic abnormalities and learning impairments associated with FXS...
September 13, 2016: Biological Psychiatry
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