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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#2
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29147715/the-impact-of-ultraviolet-b-uv-b-radiation-in-combination-with-different-temperatures-in-the-early-life-stage-of-zebrafish-danio-rerio
#3
Feyza Icoglu Aksakal, Abdulkadir Ciltas
Ultraviolet B (UV-B) radiation is an environmental stressor with detrimental effects on many aquatic organisms including fish. In addition, UV-B exposure combined with other environmental factors could have even more negative effects. The purpose of this study was to investigate the effect of UV-B radiation exposure on zebrafish embryos/larvae in terms of survival, developmental toxicity and the mRNA levels of the genes related to oxidative stress and innate immune response at different temperatures (24 °C, 28 °C and 30 °C)...
November 17, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/29147671/distal-22q11-2-microduplication-case-report-and-review-of-the-literature
#4
Elana Pinchefsky, Laurence Laneuville, Myriam Srour
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%)...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29147457/oxidative-stress-delays-prometaphase-metaphase-of-the-first-cleavage-in-mouse-zygotes-via-the-mad2l1-mediated-spindle-assembly-checkpoint
#5
Que Wu, Zhiling Li, Yue Huang, Diting Qian, Man Chen, Wanfen Xiao, Bin Wang
In zygotes, DNA damage delays the first cleavage to enable repair. Our previous study found that 0.03 mM hydrogen peroxide (H2O2) was the minimum concentration required for induction of oxidative DNA damage in mouse zygotes and that this represented the most similar situation to the clinical phenomenon. In this study, we quantified the cleavage rates of cells in blastocysts at different developmental stages, followed by immunofluorescence to detect activation of γ-H2A histone family member X (a marker of DNA damage) in zygotes to confirm that oxidative DNA damage was induced in H2O2-treated zygotes...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29146941/developmental-excitatory-to-inhibitory-gaba-polarity-switch-is-disrupted-in-22q11-2-deletion-syndrome-a-potential-target-for-clinical-therapeutics
#6
Hayder Amin, Federica Marinaro, Davide De Pietri Tonelli, Luca Berdondini
Individuals with 22q11.2 microdeletion syndrome (22q11.2 DS) show cognitive and behavioral dysfunctions, developmental delays in childhood and risk of developing schizophrenia and autism. Despite extensive previous studies in adult animal models, a possible embryonic root of this syndrome has not been determined. Here, in neurons from a 22q11.2 DS mouse model (Lgdel (+/-)), we found embryonic-premature alterations in the neuronal chloride cotransporters indicated by dysregulated NKCC1 and KCC2 protein expression levels...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29144840/feasibility-of-using-the-general-movements-assessment-of-infants-in-the-united-states
#7
Eileen Ricci, Christa Einspieler, Alexa K Craig
AIMS: To pilot the practicality of administering the Prechtl General Movements Assessment of infants (GMA) in the Neonatal Intensive Care Unit (NICU) setting and at home to infants at risk for developing cerebral palsy (CP). Additional aims included assessing inter-rater reliability and comparing GMA predictions to AIMS motor assessment at 12 months. METHODS: 12 "at risk" infants were recruited by convenience sample. Video recordings were obtained in the NICU and provided by parents after discharge...
November 16, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/29144248/recognition-of-infantile-spasms-is-often-delayed-the-assist-study
#8
Shaun A Hussain, Johnson Lay, Emily Cheng, Julius Weng, Raman Sankar, Christine B Baca
OBJECTIVES: To characterize and quantify diagnostic and treatment delay among children with infantile spasms, and to estimate the developmental impact of this delay. STUDY DESIGN: In this cohort study, we surveyed the parents of 100 patients with infantile spasms about their experiences with diagnosis and treatment, and ascertained medical and sociodemographic factors potentially related to care of these infants. We specifically determined the latency to first visit an "effective provider," defined as a provider who identified infantile spasms, and prescribed an appropriate first-line treatment, namely adrenocorticotropic hormone, corticosteroids, or vigabatrin...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#9
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142173/effect-of-dibutyltin-on-placental-and-fetal-toxicity-in-rat
#10
Satoshi Furukawa, Naho Tsuji, Yoshiyuki Kobayashi, Yoshikazu Yamagishi, Seigo Hayashi, Masayoshi Abe, Yusuke Kuroda, Masayuki Kimura, Chisato Hayakawa, Akihiko Sugiyama
In order to elucidate the effect of chorioallantoic and yolk sac placenta on the embryonic/fetal toxicity in dibutyltin dichloride (DBTCl)-exposed rats, we examined the histopathological changes and the tissue distribution of dibutyltin in the placentas and embryos. DBTCl was orally administered to the groups at doses of 0 mg/kg during gestation days (GD)s 7-9 (control group) and 20 mg/kg during GDs 7-9 (GD7-9 treated group), and GDs 10-12 (GD10-12 treated group). The total fetal mortality was increased, and malformations characterized by craniofacial dysmorphism were detected in the GD7-9 treated group...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#11
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#12
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141178/peri-conception-and-first-trimester-diet-modifies-reproductive-development-in-bulls
#13
K J Copping, M D Ruiz-Diaz, C S Rutland, N P Mongan, M J Callaghan, I C McMillen, R J Rodgers, V E A Perry
Nutritional perturbation during gestation alters male reproductive development in rodents and sheep. In cattle both the developmental trajectory of the feto-placental unit and its response to dietary perturbations is dissimilar to that of these species. This study examined the effects of dietary protein perturbation during the peri-conception and first trimester periods upon reproductive development in bulls. Nulliparous heifers (n=360) were individually fed a high- or low-protein diet (HPeri and LPeri) from 60 days before conception...
November 16, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/29139617/world-s-smallest-combined-en-bloc-liver-pancreas-transplantation
#14
Ahmed M Elsabbagh, Jason Hawksworth, Khalid M Khan, Nada Yazigi, Cal S Matsumoto, Thomas M Fishbein
We present a case of a 2-year-old child who underwent a combined en bloc liver and pancreas transplant following complications of WRS. WRS is characterized clinically through infantile insulin-dependent diabetes mellitus, neutropenia, recurrent infections, propensity for liver failure following viral infections, bone dysplasia, and developmental delay. Usually, death occurs from fulminant liver and concomitant kidney failure. Few cases with WRS are reported in the literature, mostly from consanguineous parents...
November 15, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#15
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138588/rai1-gene-mutations-mechanisms-of-smith-magenis-syndrome
#16
REVIEW
Mariateresa Falco, Sonia Amabile, Fabio Acquaviva
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype. RAI1 (OMIM *607642) is a dosage-sensitive gene expressed in many tissues and highly conserved among species...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29138363/primary-care-interventions-for-early-childhood-development-a-systematic-review
#17
REVIEW
Elizabeth Peacock-Chambers, Kathryn Ivy, Megan Bair-Merritt
CONTEXT: The pediatric primary care setting offers a platform to promote positive parenting behaviors and the optimal development of young children. Many new interventions have been developed and tested in this setting over the past 2 decades. OBJECTIVE: To summarize the recent published evidence regarding the impact of primary care-based interventions on parenting behaviors and child development outcomes; to provide recommendations for incorporation of effective interventions into pediatric clinics...
November 14, 2017: Pediatrics
https://www.readbyqxmd.com/read/29136572/multiple-bioanalytical-method-to-reveal-developmental-biological-responses-in-zebrafish-embryos-exposed-to-triclocarban
#18
Xing Dong, Hai Xu, Xiangyang Wu, Liuqing Yang
Triclocarban (TCC) is a well-known antibacterial agent that is frequently detected in environmental, wildlife and human samples. The potential toxicological effects and action mechanism of TCC on vertebrate development has remained unclear. In the present study, we analyzed phenotypic alterations, thyroid hormone levels, thyroid hormone responsive genes, and proteomic profiles of zebrafish embryos after exposure to a series of concentrations of TCC from 6 h post-fertilization (hpf) to 120 hpf. The most nonlethal concentration (MNLC), lethal concentration 10% (LC10) and lethal concentration 50% (LC50) of TCC for exposures of 96 h were 133...
November 8, 2017: Chemosphere
https://www.readbyqxmd.com/read/29136541/impact-of-neonatal-morbidity-on-the-risk-of-developmental-delay-in-late-preterm-infants
#19
Sílvia Martínez-Nadal, Xavier Demestre, Luisa Schonhaut, Sergio R Muñoz, Pere Sala
BACKGROUND: Late preterm infants (LPI) have a higher risk of developmental delay (DD) than term-born infants. The association of perinatal complications with specific morbidity is not clear. AIM: (1) To compare the risk of DD at 4years of age between LPI who have presence or absence of any morbidity associated with the prematurity at birth, called complicated (cLPI) or uncomplicated (uLPI), and term-born infants, (2) to determine maternal and perinatal factors associated with risk of DD, and (3) to analyze, in LPI, the association between perinatal morbidity and risk of DD...
November 11, 2017: Early Human Development
https://www.readbyqxmd.com/read/29136113/the-laminar-organization-of-piriform-cortex-follows-a-selective-developmental-and-migratory-program-established-by-cell-lineage
#20
Eduardo Martin-Lopez, Kimiko Ishiguro, Charles A Greer
Piriform cortex (PC) is a 3-layer paleocortex receiving primary afferent input from the olfactory bulb. The past decade has seen significant progress in understanding the synaptic, cellular and functional organization of PC, but PC embryogenesis continues to be enigmatic. Here, using birthdating strategies and clonal analyses, we probed the early development and laminar specificity of neurogenesis/gliogenesis as it relates to the organization of the PC. Our data demonstrate a temporal sequence of laminar-specific neurogenesis following the canonical "inside-out" pattern, with the notable exception of PC Layer II which exhibited an inverse "outside-in" temporal neurogenic pattern...
November 9, 2017: Cerebral Cortex
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