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https://www.readbyqxmd.com/read/28212314/a-gin4-like-protein-kinase-gil1-involvement-in-hyphal-growth-asexual-development-and-pathogenesis-in-fusarium-graminearum
#1
Dan Yu, Shijie Zhang, Xiaoping Li, Jin-Rong Xu, Zachary Schultzhaus, Qiaojun Jin
Fusarium graminearum is the main causal agent of Fusarium head blight (FHB) on wheat and barley. In a previous study, a GIN4-like protein kinase gene, GIL1, was found to be important for plant infection and sexual reproduction. In this study we further characterized the functions of GIL1 kinase in different developmental processes. The Δgil1 mutants were reduced in growth, conidiation, and virulence, and formed whitish and compact colonies. Although phialide formation was rarely observed in the mutants, deletion of GIL1 resulted in increased hyphal branching and increased tolerance to cell wall and cell membrane stresses...
February 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#2
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#3
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#4
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#5
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211649/insufficient-sleep-in-adolescents-causes-and-consequences
#6
Judith A Owens, Miriam R Weiss
Insufficient sleep poses an important and complicated set of health risks in the adolescent population. Not only is deficient sleep (defined as both sleep duration inadequate to meet sleep needs and sleep timing misaligned with the body's circadian rhythms) at epidemic levels in this population, but the contributing factors are both complex and numerous and there are a myriad of negative physical and mental health, safety and performance consequences. Causes of inadequate sleep identified in this population include internal biological processes such as the normal shift (delay) in circadian rhythm that occurs in association with puberty and a developmentally-based slowing of the "sleep drive", and external factors including extracurricular activities, excessive homework load, evening use of electronic media, caffeine intake and early school start times...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211648/cognitive-development-in-preterm-infants-multi-faceted-deficits-reflect-vulnerability-of-rigorous-neurodevelopmental-pathways
#7
Jessie R Maxwell, Tracylyn R Yellowhair, Akosua Y Oppong, Jenny E Camacho, Jean R Lowe, Lauren L Jantzie, Robin K Ohls
Prematurity remains the major cause of neonatal morbidity and mortality, with 15 million preterm births occurring worldwide in 2010. Infants born less than 37 weeks gestation are at high risk of abnormal neurodevelopmental outcomes, given that the central nervous system is extremely sensitive to an abnormal intra- and extra-uterine environment. Children born preterm have multiple neurodevelopmental sequelae involving dynamic and complex cognitive deficits. Former preterm infants have difficulty with each domain of cognition, including executive function, language, learning and memory, complex attention, perceptual-motor function and social cognition when compared to children born at term...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#8
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28210520/synchronous-aberrant-cerebellar-and-opercular-development-in-fetuses-and-neonates-with-congenital-heart-disease-correlation-with-early-communicative-neurodevelopmental-outcomes-initial-experience
#9
A Wong, T Chavez, S O'Neil, J Votava-Smith, D Miller, S delCastillo, A Panigrahy, L Paquette
Patients with congenital heart disease (CHD) demonstrate multidomain cognitive delays. Cingulo-opercular and cerebellar brain networks are critical to language functions. This is a description of our initial experience aiming to identify an anatomic correlate for CHD patients with expressive language delays. Fetal CHD patients, prospectively enrolled, underwent serial fetal (1.5T), postnatal pre- and postoperative (3T) MRI. Non-CHD patients were enrolled retrospectively from the same epoch. Comparable fetal and neonatal T2 contrast was used for manual linear cross-sectional measurement...
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28206974/caffeine-delays-oocyte-aging-and-maintains-the-quality-of-aged-oocytes-safely-in-mouse
#10
Xia Zhang, Xiaoyan Liu, Li Chen, Dan-Ya Wu, Zheng-Wen Nie, Ying-Ying Gao, Yi-Liang Miao
Caffeine, as an oocyte aging inhibitor, was used in many different species to control or delay oocyte aging. However, the safety of caffeine and developmental competence of aged oocytes inhibited by caffeine has not been studied systematically. So we detected the spindle morphology, distribution of cortical granules, zona pellucida hardening and pronucleus formation to assess oocyte quality of caffeine treated oocytes. We found that aged oocytes treated by caffeine maintained weak susceptibility to activating stimuli and regained normal competent after aged further 6 hr...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#11
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28203254/malformations-of-cortical-development-genetic-mechanisms-and-diagnostic-approach
#12
REVIEW
Jeehun Lee
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events...
January 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28203212/influence-of-ongoing-task-difficulty-and-motivation-level-on-children-s-prospective-memory-in-a-chinese-sample
#13
Pi-Guo Han, Lei Han, Yu-Long Bian, Yu Tian, Min-Xia Xu, Feng-Qiang Gao
Prospective memory (PM) is the process associated with the task of realizing delayed intentions in the future. Researchers distinguish two types of PM, namely time-based PM (tbPM) and event-based PM (ebPM). Experiment 1 investigated the developmental trajectory of 3- to 5-year-old preschool children's PM ability, and the occurrence of delayed retrieval (children execute the PM task in a larger window of opportunity) in both tbPM and ebPM tasks. Results revealed that the 5-year-old children outperformed the 3- and 4-year-old children in PM...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#14
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28202109/-early-intellectual-developmental-outcome-of-late-preterm-infants
#15
Teng-Wei Zhang, Fa-Tao Lin, Yan-Yan Song, Lan-Xiu Wang, Yue-Ju Cai
OBJECTIVE: To investigate the early intellectual developmental outcome of late preterm infants. METHODS: A total of 106 late preterm infants with a gestational age of 34-36(+6) weeks who were admitted to the neonatal ward between January 2012 and January 2015, cured, discharged, and regularly followed up at the outpatient service for high-risk children were enrolled as the preterm group. A total of 120 healthy full-term infants during the same period were randomly selected as the term group...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28197705/chronic-effects-of-fluoride-exposure-on-growth-metamorphosis-and-skeleton-development-in-bufo-gargarizans-larvae
#16
Lihong Chai, Hongyuan Wang, Hongfeng Zhao, Suiming Dong
Bufo gargarizans tadpoles were chronically exposed to waterborne fluoride at measured concentrations ranging from 0.4 to 61.2 mg F(-)/L for 70 days from Gosner stage 26 to completion of metamorphosis. The chronic exposure caused a concentration-dependent mortality in all tested fluoride concentrations. Total length, snout-to-vent length (SVL), body mass, and developmental stage of tadpoles were significantly inhibited at 42.6 mg F(-)/L. In addition, significant metamorphic delay and increase in size at completion of metamorphosis occurred after exposure to 19...
February 14, 2017: Bulletin of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28197155/dissecting-the-biochemical-and-transcriptomic-effects-of-a-locally-applied-heat-treatment-on-developing-cabernet-sauvignon-grape-berries
#17
Fatma Lecourieux, Christian Kappel, Philippe Pieri, Justine Charon, Jérémy Pillet, Ghislaine Hilbert, Christel Renaud, Eric Gomès, Serge Delrot, David Lecourieux
Reproductive development of grapevine and berry composition are both strongly influenced by temperature. To date, the molecular mechanisms involved in grapevine berries response to high temperatures are poorly understood. Unlike recent data that addressed the effects on berry development of elevated temperatures applied at the whole plant level, the present work particularly focuses on the fruit responses triggered by direct exposure to heat treatment (HT). In the context of climate change, this work focusing on temperature effect at the microclimate level is of particular interest as it can help to better understand the consequences of leaf removal (a common viticultural practice) on berry development...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28194214/single-center-experience-of-the-korean-developmental-screening-test-for-infants-and-children
#18
Chae-Ri Suh, Su Ye Sohn, Gun-Ha Kim, Seong-Kwan Jung, Baik-Lin Eun
PURPOSE: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. METHODS: For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months...
December 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28193691/optogenetic-examination-of-prefrontal-amygdala-synaptic-development
#19
Maithe Arruda-Carvalho, Wan-Chen Wu, Kirstie A Cummings, Roger L Clem
A brain network comprising the medial prefrontal cortex (mPFC) and amygdala plays important roles in developmentally-regulated cognitive and emotional processes. However, very little is known about the maturation of mPFC-amygdala circuitry. We conducted anatomical tracing of mPFC projections and optogenetic interrogation of their synaptic connections with neurons in the basolateral amygdala (BLA) at neonatal to adult developmental stages in mice. Results indicate that mPFC-BLA projections exhibit delayed emergence relative to other mPFC pathways and establish synaptic transmission with BLA excitatory and inhibitory neurons in late infancy, events which coincide with a massive increase in overall synaptic drive...
February 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28192815/lenticulostriate-vasculopathy-and-neurodevelopmental-outcomes-in-preterm-infants-a-systematic-review
#20
Abby Robinson, John Flibotte, Summer L Kaplan, Sara B DeMauro
Objective The objective of this study was to perform a systematic review of all studies that report neurodevelopmental outcomes at 12 months' corrected age or later for preterm infants (< 32 weeks) who are diagnosed with lenticulostriate vasculopathy (LSV) on cranial ultrasound. Study Design This is a systematic review. Results We identified 501 unique publications of which 3 met all prespecified eligibility criteria. Neurodevelopmental outcome data were available for 44 preterm infants with LSV. There were mixed results from the studies: the first reported impairments of mental development; the second reported impairments of motor development only; and finally, the third reported that three of three preterm infants with LSV had mild or moderate developmental delay...
February 13, 2017: American Journal of Perinatology
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