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https://www.readbyqxmd.com/read/28441836/-clinical-value-of-prenatal-mri-in-the-diagnosis-of-fetal-simple-expansion-of-lateral-ventricle-and-follow-up-after-birth
#1
Z Li, P Y He, Z Q Luo, L M Pan, Y N Chen, G S Shen, Z H Fei, M Y Li, X M Fang, L H Qi, M S Liu
Objective: To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle (ventriculomegaly) , and follow up the nervous system development status after birth. Methods: Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done: (1) unilateral or bilateral lateral ventricle expasion: one group was 98 cases was lateral ventricle expansion (77...
April 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#2
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28439876/functional-vision-and-cognition-in-infants-with-congenital-disorders-of-the-peripheral-visual-system
#3
Naomi Dale, Elena Sakkalou, Michelle O'Reilly, Clare Springall, Michelle De Haan, Alison Salt
AIM: To investigate how vision relates to early development by studying vision and cognition in a national cohort of 1-year-old infants with congenital disorders of the peripheral visual system and visual impairment. METHOD: This was a cross-sectional observational investigation of a nationally recruited cohort of infants with 'simple' and 'complex' congenital disorders of the peripheral visual system. Entry age was 8 to 16 months. Vision level (Near Detection Scale) and non-verbal cognition (sensorimotor understanding, Reynell Zinkin Scales) were assessed...
April 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28438368/early-infantile-presentation-of-3-methylglutaconic-aciduria-type-1-with-a-novel-mutation-in-auh-gene-a-case-report-and-literature-review
#4
Ali Reza Tavasoli, Reza Shervin Badv, Johannes Zschocke, Mahmood Reza Ashrafi, Parastoo Rostami
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively...
April 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#5
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28436200/randomised-controlled-trial-shows-that-co-bedding-twins-may-reduce-birth-weight-recovery-delay-parenteral-nutrition-weaning-time-and-hospitalisation
#6
Arnaud Legrand, Anne Frondas, Fabien Aubret, Anne Corre, Cyril Flamant, Laure Simon, Clothilde Desrobert, Jean-Christophe Rozé
AIM: Cobedding describes a technique where premature twins are kept within the same incubator, inside a common cocoon, to prolong the alleged in utero behavioral bond and reduce post-natal stress. However there is no consensus amongst neonatologists regarding any clinical or developmental benefits cobedding may provide, in particular when performed early after the birth. The NEOCOB (NEOnatology & COBedding) trial aimed to assess, for the first time, early cobedding in preterm newborn twins...
April 24, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28435973/acclimatization-to-middle-altitude-hypoxia-protects-against-developmental-and-cognitive-deficits-caused-by-acute-fetal-hypoxia-in-mice
#7
Hui-Lang Liu, Yong-Mei Sun, Chuan-Yu Li, Hai-Chen Niu, Min Su, Jing-Kun Wang
Acute fetal hypoxia (AFH) can elicit postnatal motor deficits and cognitive impairments. To test whether lifelong acclimatization to middle altitude (MA) hypoxia has protective effects on the impairments caused by AFH, ICR mice bred at 1 900 m altitude for 6-7 generations were evaluated under AFH. On gestation day 9 (GD 9), 13 (GD 13) or 17 (GD 17), pregnant mice received a single exposure to acute hypoxia (7% O2, 6 h). Physiological and neurodevelopmental behaviors, motor function (open field), spatial learning and memory (Morris water maze), and anxiety level (elevated plus maze) were examined in the offspring from neonate to adulthood...
April 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#8
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28434058/medical-conditions-in-the-first-years-of-life-associated-with-future-diagnosis-of-asd-in-children
#9
Stacey E Alexeeff, Vincent Yau, Yinge Qian, Meghan Davignon, Frances Lynch, Phillip Crawford, Robert Davis, Lisa A Croen
This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with increased ASD risk. Developmental delay, mental health, and neurology conditions had the strongest associations (ORs 2.0-23.3). Moderately strong associations were observed for nutrition, genetic, ear nose and throat, and sleep conditions (ORs 2.1-3.2). Using machine learning methods, we clustered children based on their medical conditions prior to ASD diagnosis and demonstrated ASD risk stratification...
April 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#10
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28427992/invasive-haemophilus-influenzae-infections-in-children-in-kamikawa-subprefecture-hokkaido-japan-2006-2015-the-effectiveness-of-h-%C3%A2-influenzae-type-b-vaccine
#11
Hiroshi Sakata, Yoko Adachi, Miyuki Morozumi, Kimiko Ubukata
We evaluated 24 children with invasive Haemophilus influenzae infections between 2006 and 2015 in Kamikawa subprefecture of Hokkaido, Japan. The most frequent disease was pneumonia in 12 cases (50.0%), followed by meningitis in 7 (29.2%) and bacteremia in 5 (20.8%). Patients ranged in age from 3 months to 12 years of age. Seventeen (70.8%) of the total were less than 2 years old. The incidence rate of H. influenzae infection varied from 15.1 to 36.3 per 100,000 population in the Kamikawa area during the period from 2006 through 2011...
April 17, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/28427778/factors-associated-with-delayed-presentation-and-misdiagnosis-of-testicular-torsion-a-case-control-study
#12
Christopher E Bayne, Jeffrey Villanueva, Tanya D Davis, Hans G Pohl, H G Rushton
We identified factors associated with delay in presentation and misdiagnosis of testicular torsion. Compared with acute cases, delayed presentations were more likely to report isolated abdominal pain, developmental disorders, and history of recent genital trauma. Failure to perform a genitourinary examination or scrotal imaging was associated with misdiagnosis.
April 18, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28427427/association-between-the-ossific-nucleus-and-osteonecrosis-in-treating-developmental-dysplasia-of-the-hip-updated-meta-analysis
#13
Rafal Niziol, Michael Elvey, Evangelia Protopapa, Andreas Roposch
BACKGROUND: A meta-analysis concluded that there was no effect of the femoral head ossification and the incidence of osteonecrosis in the treatment of developmental dysplasia of the hip (DDH), unless only osteonecrosis grades II-IV were considered. The meta-analysis, limited due to the small number of studies available at that time, identified a need for an update as further research emerges. We observed a trend in recent years towards delaying treatment of DDH in the absence of an ossified nucleus...
April 20, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28426157/effects-of-ambient-temperature-in-association-with-photoperiod-on-phenology-and-on-the-expressions-of-major-plant-developmental-genes-in-wheat-triticum-aestivum-l
#14
Tibor Kiss, Laura E Dixon, Alexandra Soltész, Judit Bányai, Marianna Mayer, Krisztina Balla, Vincent Allard, Gábor Galiba, Gustavo A Slafer, Simon Griffiths, Ottó Veisz, Ildikó Karsai
In addition to its role in vernalization, temperature is an important environmental stimulus in determining plant growth and development. We used factorial combinations of two photoperiods (16H, 12H) and three temperature levels (11 °C, 18 °C, and 25 °C) to study the temperature responses of 19 wheat cultivars with established genetic relationships. Temperature produced more significant effects on plant development than photoperiod, with strong genotypic components. Wheat genotypes with PPD-D1 photoperiod sensitive allele were sensitive to temperature; their development was delayed by higher temperature, which intensified under non-inductive conditions...
April 20, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28424567/access-barriers-to-services-by-immigrant-mothers-of-children-with-autism-in-canada
#15
Nazilla Khanlou, Nasim Haque, Nida Mustafa, Luz Maria Vazquez, Anne Mantini, Jonathan Weiss
Equal access for autism services remains suboptimal for diverse groups. In Canada, little is known about the barriers immigrant mothers face accessing services and support for their children with developmental disabilities. In this qualitative study, 21 immigrant mothers of children with Autism, from a diverse ethno cultural background, were interviewed in Toronto, Canada. We apply House's (1981) four domains of social support to analyze findings. Structural support challenges, such as delays in diagnosis, fragmented and dispersed services were common, followed by instrumental challenges due to loss of social ties and stigma...
2017: International Journal of Mental Health and Addiction
https://www.readbyqxmd.com/read/28424497/the-glycogen-synthase-kinase-mogsk1-regulated-by-mps1-map-kinase-is-required-for-fungal-development-and-pathogenicity-in-magnaporthe-oryzae
#16
Tengsheng Zhou, Yasin F Dagdas, Xiaohan Zhu, Shiqin Zheng, Liqiong Chen, Zachary Cartwright, Nicholas J Talbot, Zonghua Wang
Magnaporthe oryzae, the causal agent of blast disease, is one of the most destructive plant pathogens, causing significant yield losses on staple crops such as rice and wheat. The fungus infects plants with a specialized cell called an appressorium, whose development is tightly regulated by MAPK signaling pathways following the activation of upstream sensors in response to environmental stimuli. Here, we show the expression of the Glycogen synthase kinase 3 (GSK3) MoGSK1 in M. oryzae is regulated by Mps1 MAP kinase, particularly under the stressed conditions...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424357/thin-for-gestational-age-infants-are-at-increased-risk-of-neurodevelopmental-delay-at-2%C3%A2-years
#17
Sinéad M O'Neill, Geraldine Hannon, Ali S Khashan, J O'B Hourihane, Louise C Kenny, Mairead Kiely, Deirdre M Murray
BACKGROUND: Infants born small-for-gestational age (SGA) are at increased risk of developmental difficulties. Identifying those most at risk is challenging. We examined the effect of neonatal body composition and customised birthweight centiles on neurocognitive and behavioural outcomes at age 2. STUDY DESIGN: Prospective cohort study of term infants from the Cork BASELINE Birth Cohort Study classified into the following exposure groups: a birth weight <10th customised centile (SGA, n=51); body fat percentage at birth <10th centile (thin-for-gestational age (TGA, n=51)) or both SGA and TGA infants (small- and thin-for-gestational age (STGA), n=13)...
May 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#18
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28422158/isothiocyanates-induce-ugt1a1-in-humanized-ugt1-mice-in-a-car-dependent-fashion-that-is-highly-dependent-upon-oxidative-stress
#19
Emiko Yoda, Miles Paszek, Camille Konopnicki, Ryoichi Fujiwara, Shujuan Chen, Robert H Tukey
Isothiocyanates, such as phenethyl isothiocyanate (PEITC), are formed following the consumption of cruciferous vegetables and generate reactive oxygen species (ROS) that lead to the induction of cytoprotective genes such as the UDP-glucuronosyltransferases (UGTs). The induction of ROS activates the Nrf2-Keap 1 pathway leading to the induction of genes through antioxidant response elements (AREs). UGT1A1, the sole enzyme responsible for the metabolism of bilirubin, can be induced following activation of Nrf2...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#20
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
April 19, 2017: European Journal of Human Genetics: EJHG
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