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https://www.readbyqxmd.com/read/29331690/effect-of-depressive-symptoms-on-the-evolution-of-neuropsychological-functions-over-the-course-of-adolescence
#1
Mohammad H Afzali, Maeve Oleary-Barrett, Jean R Séguin, Patricia Conrod
INTRODUCTION: Comprehensive understanding of the association between depression and neuropsychological functioning over the course of adolescence requires developmentally sensitive assessment through longitudinal data. The aim of current study is to examine the concurrent and subsequent effects of depressive symptoms on the initial level and evolution of four neuropsychological functioning domains (i.e., spatial working memory, delayed recall memory, perceptual reasoning, and inhibitory control)...
December 22, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#2
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29330527/aquaglyceroporin-pbaqp-is-required-for-efficient-progression-through-the-liver-stage-of-plasmodium-infection
#3
Dominique Promeneur, Godfree Mlambo, Peter Agre, Isabelle Coppens
The discovery of aquaglyceroporins (AQP) has highlighted a new mechanism of membrane solute transport that may hold therapeutic potential for controlling parasitic infections, including malaria. Plasmodium parasites express a single AQP at the plasma membrane that functions as a channel for water, nutrients and waste into and out cells. We previously demonstrated that Plasmodium berghei targeted for PbAQP deletion are deficient in glycerol import and less virulent than wild-type parasites during the blood developmental stage...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330350/selection-against-balb-c-strain-cells-in-mouse-chimaeras
#4
Pin-Chi Tang, Gillian E MacKay, Jean H Flockhart, Margaret A Keighren, Anna Kopakaki, John D West
It has been shown previously that BALB/c strain embryos tend to contribute poorly to mouse aggregation chimaeras. In the present study we showed that BALB/c cells were not preferentially allocated to any extraembryonic lineages of mouse aggregation chimaeras, but their contribution decreased during the early postimplantation period and they were significantly depleted by E8.5. The development of BALB/c strain preimplantation embryos lagged behind embryos from some other strains and the contribution that BALB/c and other embryos made to chimaeras correlated with their developmental stage at E2...
January 12, 2018: Biology Open
https://www.readbyqxmd.com/read/29329955/longitudinal-predictors-of-early-language-in-infants-with-down-syndrome-a-preliminary-study
#5
Emily Mason-Apps, Vesna Stojanovik, Carmel Houston-Price, Sue Buckley
PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved...
January 9, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29329032/targeting-expression-of-adenosine-receptors-during-hypoxia-induced-angiogenesis-a-study-using-zebrafish-model
#6
Navina Panneerselvan, Malathi Ragunathan
Hypoxia is known to be a major player during pathological angiogenesis and adenosine as a negative feedback signaling to maintain oxygen delivery in pathological ischemic condition. We mimicked hypoxic condition and studied angiogenesis by inducing adenosine receptors using forskolin, a plant compound and NECA analogue of adenosine using zebrafish model. Vascular endothelial growth factor (VEGF) is known to play a key role during pathological angiogenesis and regulated by the factors HIF1a under hypoxic condition and recently Notch is proposed to play a negative feedback loop mechanism along with VEGF signaling but the role of adenosine receptor during the process is not known...
January 9, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29328005/a-novel-use-of-the-neuroblate-sidefire-probe-for-minimally-invasive-disconnection-of-a-hypothalamic-hamartoma-in-a-child-with-gelastic-seizures
#7
James M Wright, Michael D Staudt, Andrea Alonso, Jonathan P Miller, Andrew E Sloan
The authors describe the case of a 22-month-old boy who presented with gelastic seizures and developmental delay. Magnetic resonance imaging and video-electroencephalography monitoring revealed a primarily intraventricular hypothalamic hamartoma and gelastic seizures occurring 20-30 times daily. The patient was treated with various regimens of antiepileptic medications for 16 months, but the seizures remained medically intractable. At 3 years of age, he underwent stereotactic laser ablation with an aim of disconnection of the lesion...
January 12, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29327201/allele-specific-biased-expression-of-the-cntn6-gene-in-ips-cell-derived-neurons-from-a-patient-with-intellectual-disability-and-3p26-3-microduplication-involving-the-cntn6-gene
#8
Maria M Gridina, Natalia M Matveeva, Veniamin S Fishman, Aleksei G Menzorov, Helen A Kizilova, Nikolay A Beregovoy, Igor I Kovrigin, Inna E Pristyazhnyuk, Igor P Oscorbin, Maxim L Filipenko, Anna A Kashevarova, Nikolay A Skryabin, Tatyana V Nikitina, Elena A Sazhenova, Ludmila P Nazarenko, Igor N Lebedev, Oleg L Serov
Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human neuropathologies is associated with the inaccessibility of brain material. This problem can be overcome through the use of reprogramming technologies that permit the generation of induced pluripotent stem (iPS) cells from fibroblasts and their subsequent in vitro differentiation into neurons...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29327079/endoscopic-third-ventriculostomy-for-hydrocephalus-in-osteopetrosis-a-case-report-and-review-of-the-literature
#9
Nobuyuki Akutsu, Junji Koyama, Atsufumi Kawamura, Tatsuya Nagashima, Masaaki Taniguchi, Eiji Kohmura
INTRODUCTION: There are very few reports in the literature associating in hydrocephalus in osteopetrosis. As a complication of shunt procedure, there are two reports on shunt malfunction due to osseous overgrowth at the burr hole in patients with osteopetrosis. We herein report a case of osteopetrosis with hydrocephalus that was successfully treated with endoscopic third ventriculostomy (ETV). CASE REPORT: At 5 months of age, a male patient presented with developmental delay...
January 11, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#10
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29326055/a-retrospective-biochemical-molecular-and-neurocognitive-review-of-saudi-patients-with-argininosuccinic-aciduria
#11
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were either identified through the Saudi National Newborn Screening Program or diagnosed clinically from January 2000 to December 2015. The duration of follow-up is from 2 to 19 years. The majority of patients (65%) originated from the central province of Saudi Arabia. The mean patient age at review was 10 years (2-19 years), 92% received an early diagnosis (<28 days of age) and most were symptomatic at the time of the diagnosis (n = 34)...
January 8, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#12
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324951/signs-and-symptoms-in-gaucher-disease-priority-nursing-diagnoses
#13
Márcia Koja Breigeiron, Vitória da Costa Moraes, Janice Carneiro Coelho
OBJECTIVE: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. METHOD: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. RESULTS: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent...
January 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#14
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi, Tsutomu Ogata, Naomichi Matsumoto, Hirotomo Saitsu
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation...
January 10, 2018: Human Genetics
https://www.readbyqxmd.com/read/29321709/the-probable-prevalence-and-sociodemographic-characteristics-of-specific-learning-disorder-in-primary-school-children-in-edirne
#15
Işık Görker, Leyla Bozatli, Ümran Korkmazlar, Meltem Yücel Karadağ, Cansın Ceylan, Ceren Söğüt, Hasan Cem Aykutlu, Büşra Subay, Nesrin Turan
Introduction: The aim of this study was to research the probable prevalence of Specific Learning Disorder (SLD) in primary school children in Edirne City and the relationships with their sociodemographic characteristics. Methods: The sample of our study was composed of 2,174 children who were educated in primary schools in second, third, and fourth grades in the academic year 2013-2014 in Edirne City. The teachers and parents of these children were given Specific Learning Difficulties Symptom Scale, Learning Disabilities Symptoms Checklist (teacher and parent forms), and sociodemographic data forms to fill in...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29321672/phenotypic-interpretation-of-complex-chromosomal-rearrangements-informed-by-nucleotide-level-resolution-and-structural-organization-of-chromatin
#16
Cinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J Harris, Helen Cox, Claire Redin, Zehra Ordulu, Michael E Talkowski, Cynthia C Morton
Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29321393/-n-3-fatty-acids-and-the-maintenance-of-neuronal-functions
#17
Michio Hashimoto
The functions of n-3 fatty acids are known to be diverse, and they play roles in cardiovascular and neuronal systems and in lipid metabolism. Docosahexaenoic acid (DHA), which is the most abundant n-3 fatty acid in the brain, is essential for the maintenance of brain functions throughout the human lifespan. Epidemiological studies have demonstrated that reduced n-3 fatty acid intake is closely associated with the onset of mental and neurological diseases such as brain developmental disorders, depression, and Alzheimer's disease...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
https://www.readbyqxmd.com/read/29321200/bilateral-haemorrhagic-basal-ganglia-infarction-associated-with-early-onset-group-b-streptococcus-meningitis
#18
Rajesh Gupta, Taiwo Maraiyesa, Brendon Conry
A 2-day-old infant presented with poor feeding and grunting. Investigations revealed a raised C reactive protein of 164. Full septic screen was done, which subsequently confirmed a diagnosis of group B streptococcus meningitis. Baby was apyrexial and haemodynamically stable. There were no obvious neurological manifestations, and a routine cranial ultrasound scan was done, which revealed echogenic changes in the basal ganglia and thalami. MRI brain showed extensive haemorrhagic infarction within the lentiform and caudate nuclei with involvement of both posterior limbs of the internal capsule...
January 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29318938/pitt-hopkins-syndrome-a-review-of-current-literature-clinical-approach-and-23-patient-case-series
#19
Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29317992/transposition-of-the-great-arteries-a-phenotype-associated-with-16p11-2-duplications
#20
Zarmiga Karunanithi, Else Marie Vestergaard, Mette H Lauridsen
Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population...
December 26, 2017: World Journal of Cardiology
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