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Developmental delay

Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Fabien Cignetti, Marianne Vaugoyeau, Aurelie Fontan, Marianne Jover, Marie-Odile Livet, Catherine Hugonenq, Frédérique Audic, Brigitte Chabrol, Christine Assaiante
BACKGROUND AND AIM: Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8-12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. METHODS: Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm...
March 13, 2018: Research in Developmental Disabilities
Nishant Patel, Jeffrey Forris Beecham Chick, Joseph J Gemmete, Jordan C Castle, Narasimham Dasika, Wael E Saad, Ravi N Srinivasa
OBJECTIVE: The objective of our study was to report the technique, complications, and clinical outcomes of interventional radiology-operated cholecystoscopy with stone removal for the management of symptomatic cholelithiasis. MATERIALS AND METHODS: Ten (77%) men and three (23%) women (mean age, 65 years) with symptomatic cholelithiasis underwent cholecystostomy followed by interventional radiology-operated cholecystoscopy with stone removal. Major comorbidities precluding cholecystectomy included prior cardiac, pulmonary, or abdominal surgery; cirrhosis; sepsis with hyponatremia; seizure disorder; developmental delay; and cholecystoduodenal fistula...
March 16, 2018: AJR. American Journal of Roentgenology
Samine Khandan, Hedyeh Riazi, Sedigheh Amir Ali Akbari, Malihe Nasiri, Ali Montazeri
OBJECTIVE: To assess the correlation between adaptation to maternal role (AMR) and infant development. BACKGROUND: Maternal role is an important key in infant's care and development. Previous findings demonstrated an inconsistency in the effect of the mother's adaptation on each domain of infant's development. METHODS: This cross-sectional study was conducted on 260 healthy mothers and healthy infants attending health centres affiliated to Shahid Beheshti University of Medical Sciences in Tehran in 2016...
March 16, 2018: Journal of Reproductive and Infant Psychology
Taran S Sangari, Timothy W Martin
No abstract text is available yet for this article.
March 12, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Emily P Dawson, Denise G Lanza, Nicholas J Webster, Susan M Benton, Isao Suetake, Jason D Heaney
Testicular teratomas result from anomalies in embryonic germ cell development. In 129 inbred mice, teratoma initiation coincides with germ cell sex-specific differentiation and the mitotic-meiotic switch: XX and XY germ cells repress pluripotency, XX germ cells initiate meiosis, and XY germ cells activate male-specific differentiation and mitotic arrest. Here, we report that expression of Nanos2 , a gene that is crucial to male sex specification, is delayed in teratoma-susceptible germ cells. Decreased expression of Nanos2 was found to be due, in part, to the Nanos2 allele present in 129 mice...
March 15, 2018: Development
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram
BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage and calcium-sensitive potassium channel (BK channels) which plays an important role in neuronal excitability. Heterozygous mutations in KCNMA1 were firstly described in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recently, homozygous KCNMA1 mutations were reported to cause a phenotype of cerebellar atrophy, developmental delay and seizures. CASE REPORT: Herein; we report a patient with a novel homozygous truncating mutation in KCNMA1 (p...
March 16, 2018: Balkan Medical Journal
Amit Acharyya, Pranit N Jadhav, Valentina Bono, Koushik Maharatna, Ganesh R Naik
BACKGROUND AND OBJECTIVE: EEG is a non-invasive tool for neuro-developmental disorder diagnosis and treatment. However, EEG signal is mixed with other biological signals including Ocular and Muscular artifacts making it difficult to extract the diagnostic features. Therefore, the contaminated EEG channels are often discarded by the medical practitioners which may result in less accurate diagnosis. Many existing methods require reference electrodes, which will create discomfort to the patient/children and cause hindrance to the diagnosis of the neuro-developmental disorder and Brain Computer Interface in the pervasive environment...
May 2018: Computer Methods and Programs in Biomedicine
Charles Cai, Taimur Ahmad, Gloria B Valencia, Jacob V Aranda, Jiliu Xu, Kay D Beharry
OBJECTIVES: Extremely low gestational age neonates with chronic lung disease requiring oxygen therapy frequently experience fluctuations in arterial oxygen saturation or intermittent hypoxia (IH). These infants are at risk for multi-organ developmental delay, reduced growth, and short stature. The growth hormone (GH)/insulin-like growth factor-I (IGF-1) system, an important hormonal regulator of lipid and carbohydrate metabolism, promotes neonatal growth and development. We tested the hypothesis that increasing episodes of IH delay neonatal growth by influencing the GH/IGF-I axis...
March 8, 2018: Growth Hormone & IGF Research
Claire M Lawlor, Charles A Riley, John M Carter, Kimsey H Rodriguez
Importance: The 1996 Tonsillectomy and Adenoidectomy Inpatient Guidelines of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) Pediatric Otolaryngology Committee recommended that children younger than 3 years be admitted following tonsillectomy. Recommendations for hospital observation were not included as a key action statement in the 2011 AAO-HNS Clinical Practice Guidelines for Tonsillectomy in Children. Objective: To examine the association between posttonsillectomy complication rate and the age and weight of the child at the time of surgery...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
Cheryl Holly, Sallie Porter, Mercedes Echevarria, Margaret Dreker, Sevara Ruzehaji
The findings can facilitate earlier recognition and prevention of pediatric delirium. ABSTRACT: Purpose: The purpose of this study was to examine the evidence regarding the risk factors for and characteristics of acute pediatric delirium in hospitalized children. METHODS: The systematic review method within an epidemiological framework of person, place, and time was used. Fifty-two studies were selected for initial retrieval. Of these, after assessment for methodological quality, 21 studies involving 2,616 subjects were included in the review...
March 14, 2018: American Journal of Nursing
Laura Masala, Federica Ariu, Luisa Bogliolo, Emanuela Bellu, Sergio Ledda, Daniela Bebbere
Oocytes from prepubertal animals have a reduced ability to undergo embryo development and produce viable offspring. The present work used an ovine model consisting of oocytes derived from adult and prepubertal donors to assess the molecular status of oocytes and preimplantation embryos with different developmental competence. The lower potential of oocytes of young donors was confirmed in terms of in vitro developmental capabilities and kinetics. A panel of genes including maternal effect (DPPA3, GDF9, NMP2, ZAR1) and housekeeping genes (ACTB, RPL19, SDHA, YWHAZ, ATP1A1), genes involved in DNA methylation (DNMT1, DNMT3A, DNMT3B), genomic imprinting (IGF2R), pluripotency (NANOG, POU5F1) and cell cycle regulation (CCNB1, CDK1, MELK) was relatively quantified...
March 15, 2018: Molecular Reproduction and Development
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
Melanie Penner, Evdokia Anagnostou, Wendy J Ungar
Background: Inefficient diagnostic practices for autism spectrum disorder (ASD) may contribute to longer wait times, delaying access to intervention. The objectives were to describe the diagnostic practices of Canadian pediatricians and to identify determinants of longer wait time for ASD diagnosis. Methods: An online survey was conducted through the Canadian Paediatric Society's developmental pediatrics, community pediatrics, and mental health sections. Participants were asked for demographic information, whether they diagnosed ASD, and elements of their diagnostic assessment...
2018: Molecular Autism
Michael W Pankhurst, Rebecca L Kelley, Rachel L Sanders, Savana R Woodcock, Dorothy E Oorschot, Nicola J Batchelor
Anti-Müllerian hormone (AMH) is an ovarian regulator that affects folliculogenesis. AMH inhibits the developmental activation of the dormant primordial follicles and the oocyte within. In more mature follicles, AMH reduces granulosa cell sensitivity to follicle-stimulating hormone (FSH). We examined the effects of AMH overexpression on the stages of ovarian folliculogenesis, and the development of embryos, with a transgenic mouse that overexpresses human AMH in central nervous system neurons under the control of the mouse Thy1...
March 14, 2018: Journal of Endocrinology
Adam H Lewis, Ankur Chugh, Sarah A Sobotka
A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT...
March 1, 2018: Pediatric Annals
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series of seven STXBP1 mutations and developed four mouse models that recapitulate the abnormal EEG activity and cognitive aspects of human STXBP1-encephalopathy. Disease-causing STXBP1 variants supported synaptic transmission to a variable extent on a null background, but had no effect when overexpressed on a heterozygous background...
March 12, 2018: Brain: a Journal of Neurology
Luz I Valenzuela-García, Víctor M Ayala-García, Ana G Regalado-García, Peter Setlow, Mario Pedraza-Reyes
The absence of base excision repair (BER) proteins involved in processing ROS-promoted genetic insults activates a DNA damage scanning (DisA)-dependent checkpoint event in outgrowing Bacillus subtilis spores. Here, we report that genetic disabling of transcription-coupled repair (TCR) or nucleotide excision repair (NER) pathways severely affected outgrowth of ΔdisA spores, and much more so than the effects of these mutations on log phase growth. This defect delayed the first division of spore's nucleoid suggesting that unrepaired lesions affected transcription and/or replication during outgrowth...
March 13, 2018: MicrobiologyOpen
Michael Tchirikov, Erich Saling, Gauri Bapayeva, Michael Bucher, Oliver Thews, Gregor Seliger
In the first case, the AA and glucose were infused through a perinatal port system into the umbilical vein at 30 weeks' gestation due to severe IUGR. The patient received daily hyperbaric oxygenation (HBO, 100% O2 ) with 1.4 atmospheres absolute for 50 min for 7 days. At 31+4  weeks' gestation, the patient gave birth spontaneously to a newborn weighing 1378 g, pH 7.33, APGAR score 4/6/intubation. In follow-up examinations at 5 years of age, the boy was doing well without any neurological disturbance or developmental delay...
March 2018: Physiological Reports
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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