keyword
MENU ▼
Read by QxMD icon Read
search

Mental retardation

keyword
https://www.readbyqxmd.com/read/28523540/rubinstein-taybi-syndrome-and-epigenetic-alterations
#1
Edward Korzus
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28516327/long-term-outcomes-of-epilepsy-surgery-in-tuberous-sclerosis-complex
#2
Shuli Liang, Juncheng Zhang, Zhixian Yang, Shaohui Zhang, Zhiqiang Cui, Jianfei Cui, Jiwu Zhang, Na Liu, Ping Ding
Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Reductions in the number of seizures were analyzed at 1-year (1FU), 5-year (5FU), and 10-year (10FU) follow-ups visits after the operation...
May 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28511889/severely-infected-pneumoceles-of-the-frontal-sinus-in-patients-with-mental-retardation-and-brain-atrophy-treated-by-endoscopic-sinus-surgery
#3
Ichiro Tojima, Hirotaka Kikuoka, Takao Ogawa, Takeshi Shimizu
We herein present three cases of abnormally expanded frontal sinuses (pneumoceles) with severe infection in patients with mental retardation and brain atrophy. Two patients previously underwent laryngotracheal separation surgery, and bacteriological examinations of purulent nasal discharge revealed infections caused by drug-resistant bacteria such as Pseudomonas aeruginosa and Acinetobacter baumannii. As conservative medical treatments were ineffective, all three patients were treated by computed tomography-guided endoscopic sinus surgery...
May 13, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#4
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28509881/dfmr1-plays-roles-in-small-rna-pathways-of-drosophila-melanogaster
#5
REVIEW
Valeria Specchia, Simona D'Attis, Antonietta Puricella, Maria Pia Bozzetti
Fragile-X syndrome is the most common form of inherited mental retardation accompanied by other phenotypes, including macroorchidism. The disorder originates with mutations in the Fmr1 gene coding for the FMRP protein, which, with its paralogs FXR1 and FXR2, constitute a well-conserved family of RNA-binding proteins. Drosophila melanogaster is a good model for the syndrome because it has a unique fragile X-related gene: dFmr1. Recently, in addition to its confirmed role in the miRNA pathway, a function for dFmr1 in the piRNA pathway, operating in Drosophila gonads, has been established...
May 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28508616/ultrasound-elastography-in-pediatric-congenital-hypothyroid-patients
#6
Mehmet Akif Sarıca, Tahir Dalkıran, Mehmet Sait Menzilcioğlu, Mahmut Duymuş, Nursel Yurttutan
OBJECTIVES: Congenital hypothyroidism (CH) is most frequently encountered in newborns as an endocrine disorder characterized by thyroid hormone deficiency, and is one of the most common reasons for preventable mental retardation. This prospective study was designed to detect the pediatric occurrences of CH followed as euthyroid, with no anomalies detected via US on the gray scale, in comparison with a pediatric group with normal levels. METHODS: A total of 42 apparently healthy children with no thyroid disorder (Group 1) and 54 euthyroid CH (Group 2) using thyroid hormone were included in this study...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28506452/performing-nuclear-medicine-examinations-in-pregnant-women
#7
REVIEW
Paolo Zanotti-Fregonara, Elif Hindie
The number of nuclear medicine examinations performed worldwide has been steadily increasing over the last few years. By consequence, an ever increasing number of pregnant women are likely to be exposed to radioisotopes. The range of doses encountered in nuclear medicine practice is well below the threshold for deterministic effects, such as embryonic death, birth defects or mental retardation. According to the linear no-threshold hypothesis, however, stochastic effects (e.g. an increased risk of cancer) remain possible even at this dose range...
May 11, 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28504507/-mosaic-trisomy-18-series-of-cases
#8
Francisco Cammarata-Scalisi, María A Lacruz-Rengel, Dianora Araque, Gloria Da Silva, Andrea Avendaño, Michele Callea, Frances Stock, Yudith Guerrero, Eliomar Aguilar, María J Lacruz, Jesús Sulbaran
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#9
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28488382/neuron-specific-knockdown-of-the-drosophila-fat-induces-reduction-of-life-span-deficient-locomotive-ability-shortening-of-motoneuron-terminal-branches-and-defects-in-axonal-targeting
#10
Aya Nakamura, Ryo Tanaka, Kazushige Morishita, Hideki Yoshida, Yujiro Higuchi, Hiroshi Takashima, Masamitsu Yamaguchi
Mutations in FAT4 gene, one of the human FAT family genes, have been identified in Van Maldergem syndrome (VMS) and Hennekam lymphangiectasia-lymphedema syndrome (HS). The FAT4 gene encodes a large protein with extracellular cadherin repeats, EGF-like domains and Laminin G-like domains. FAT4 plays a role in tumor suppression and planar cell polarity. Drosophila contains a human FAT4 homologue, fat. Drosophila fat has been mainly studied with Drosophila eye and wing systems. Here, we specially knocked down Drosophila fat in nerve system...
May 9, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28487795/sequence-and-timing-of-intracranial-changes-in-cytomegalovirus-in-pregnancy-a-case-report-and-literature-review
#11
Cynthia O'Sullivan, Shankari Arulkumaran, Lorin Lakasing, Eric Jauniaux, Karl Murphy
Cytomegalovirus (CMV) is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2), with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28479789/psychiatric-comorbidity-in-children-with-epilepsy-a-cross-sectional-5-years-rural-prevalence-study
#12
Ambrish Sanjay Dharmadhikari, Vinod Kumar Sinha
BACKGROUND: Epilepsy is one of the most common chronic neurological disorders. In children, it has long debilitating course and is associated with comorbidities including psychiatric comorbidity. To tackle this burden of comorbidities, we must know the extent of problem. Hence, there is a need for estimation of prevalence of psychiatry disorder in children with epilepsy. AIM: The present study was aimed at measuring the prevalence of various psychiatry disorders among children suffering from epilepsy...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28478914/late-onset-limb-girdle-muscular-dystrophy-caused-by-gmppb-mutations
#13
Hasan Balcin, Johanna Palmio, Sini Penttilä, Inger Nennesmo, Mikaela Lindfors, Göran Solders, Bjarne Udd
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation. More recently mutations in GMPPB have been identified with congenital myasthenic syndromes as well as milder phenotypes. We report two unrelated cases with LGMD that underwent clinical, histopathological and genetic studies. In both cases, we found identical compound heterozygous GMPPB mutations c.79G>C p.D27H and c...
April 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28476762/white-matter-microstructure-cognition-and-molecular-markers-in-fragile-x-premutation-females
#14
Annie L Shelton, Kim M Cornish, David Godler, Quang Minh Bui, Scott Kolbe, Joanne Fielding
OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed...
May 5, 2017: Neurology
https://www.readbyqxmd.com/read/28476689/pax6-interacts-with-iba1-and-shows-age-associated-alterations-in-brain-of-aging-mice
#15
Shashank Kumar Maurya, Rajnikant Mishra
The Pax6, a transcriptional regulator and multifunctional protein, has been found critical for neurogenesis, neuro-degeneration, mental retardation, neuroendocrine tumors, glioblastoma and astrocytomas. The age-associated alteration in the expression of Pax6 in neuron and glia has also been observed in the immunologically privileged brain. Therefore, it is presumed that Pax6 may modulate brain immunity by activation of microglia either directly interacting with genes or proteins of microglia or indirectly though inflammation associated with neurodegeneration...
May 3, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28472853/genetic-rescue-of-mitochondrial-and-skeletal-muscle-impairment-in-an-ipscs-model-of-coenzyme-q10-deficiency
#16
Damià Romero-Moya, Carlos Santos-Ocaña, Julio Castaño, Gloria Garrabou, José A Rodríguez-Gómez, Vanesa Ruiz-Bonilla, Clara Bueno, Patricia González-Rodriguez, Alessandra Giorgetti, Eusebio Perdiguero, Cristina Prieto, Constanza Moren-Nuñez, Daniel J Fernández-Ayala, Maria Victoria Cascajo, Iván Velasco, Josep Maria Canals, Raquel Montero, Delia Yubero, Cristina Jou, José López-Barneo, Francesc Cardellach, Pura Muñoz-Cánoves, Rafael Artuch, Plácido Navas, Pablo Menéndez
Coenzyme Q10 (CoQ10 ) plays a crucial role in mitochondria as an electron carrier within the mitochondrial respiratory chain (MRC), and is an essential antioxidant. Mutations in genes responsible for CoQ10 biosynthesis (COQ genes) cause primary CoQ10 deficiency, a rare and heterogeneous mitochondrial disorder with no clear genotype-phenotype association, mainly affecting tissues with high-energy demand including brain and skeletal muscle (SkM). Here, we report a 4-year old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c...
May 4, 2017: Stem Cells
https://www.readbyqxmd.com/read/28472417/the-impact-of-specific-fertility-treatments-on-cognitive-development-in-childhood-and-adolescence-a-systematic-review
#17
Alice R Rumbold, Vivienne M Moore, Melissa J Whitrow, Tassia K Oswald, Lisa J Moran, Renae C Fernandez, Kurt T Barnhart, Michael J Davies
STUDY QUESTION: Does fertility treatment influence cognitive ability in school aged children, and does the impact vary with the type of treatment? SUMMARY ANSWER: The available high-quality evidence indicates that specific treatments may give rise to different effects on cognitive development, with certain treatments, including ICSI, associated with cognitive impairment. WHAT IS KNOWN ALREADY: Previous reviews of the literature concerning cognitive outcomes among children conceived with medical assistance have concluded that study findings are generally 'reassuring', but limited attention has been paid to the quality of this research...
May 4, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28469730/reduced-vagal-tone-in-women-with-the-fmr1-premutation-is-associated-with-fmr1-mrna-but-not-depression-or-anxiety
#18
Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W Ted Brown, Flora Tassone, Jane E Roberts
BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28468609/a-novel-trps1-mutation-in-a-moroccan-family-with-tricho-rhino-phalangeal-syndrome-type-iii-case-report
#19
W Smaili, S Chafai Elalaoui, S Meier, M Zerkaoui, A Sefiani, K Heinimann
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28468512/acalvaria-report-of-a-case-and-discussion-of-the-literature
#20
John R Ouma
Acalvaria is a rare condition indeed, defined as the absence of the flat bones of the skull, as well as the associated muscles and dura, with, in some cases, normal skull base bones and normal brain structures. It has been reported as a fatal congenital condition, because of the failure of afflicted children to survive for extended periods. There have, however, been reports of extended survival. The first report of this condition was in 1996, involving an 11-year-old child who had severe mental retardation...
May 4, 2017: British Journal of Neurosurgery
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"