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Pervasive Developmental Disease

Carlo Ripoli, Anna Paola Pinna, Faustina Podda, Roberta Zanni, Maria Giada Tronci, Anna Maria Nurchi
Second generation antipsychotics (SGA) are used in children for the treatment of various psychiatric diseases, including pervasive developmental disorders. These drugs can cause metabolic effects as hyperglycemia and diabetes. A 16-year-old young-boy, diagnosed with autism, developed diabetes mellitus type 1 whilst he was on treatment with olanzapine (started 4 months before), clomipramine, valproic acid and lithium. The hypothesis of druginduced diabetes imposed olanzapine interruption and clozapine initiation...
December 13, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Daniel Seung Kim, Yatong K Li, Jerry H Kim, Curtis S Bergquist, Marsha Gerdes, Judy C Bernbaum, Nancy Burnham, Donna M McDonald-McGinn, Elaine H Zackai, Susan C Nicolson, Thomas L Spray, Deborah A Nickerson, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
OBJECTIVES: The MBL2 gene is the major genetic determinant of mannose-binding lectin (MBL)-an acute phase reactant. Low MBL levels have been associated with adverse outcomes in preterm infants. The MBL2Gly54Asp missense variant causes autosomal dominant MBL deficiency. We tested the hypothesis that MBL2Gly54Asp is associated with worse neurodevelopmental outcomes after cardiac surgery in neonates. METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295)...
March 2018: Journal of Thoracic and Cardiovascular Surgery
Isaac R Melamed, Melinda Heffron, Alessandro Testori, Kellie Lipe
Research has shown that a subset of the autism spectrum disorder (ASD) population presents with immune dysregulation. To explore this topic further, we investigated the efficacy and tolerability of intravenous immunoglobulin (IVIG) infusion in children with ASD. In this study, participants were recruited based on a diagnosis of autistic disorder, Asperger's disorder, or pervasive developmental disorder not otherwise specified. Participants also showed evidence of immune dysfunction based on abnormal levels of specific biomarkers, including CD40 ligand (CD154), lymphocyte stimulation, and T or B cell dysfunction...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
Nicolas Navarro, A Murat Maga
Molar size in Mammals shows considerable disparity and exhibits variation similar to that predicted by the Inhibitory Cascade model. The importance of such developmental systems in favoring evolutionary trajectories is also underlined by the fact that this model can predict macroevolutionary patterns. Using backcross mice, we mapped QTL for molar sizes controlling for their sequential development. Genetic controls for upper and lower molars appear somewhat similar, and regions containing genes implied in dental defects drive this variation...
January 5, 2018: Heredity
Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D'Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marini
Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (MeCP2) gene. This is a transcriptional activator/repressor with presumed pleiotropic activities. The broad tissue expression of MeCP2 suggests that it may be involved in several metabolic pathways, but the molecular mechanisms which provoke the onset and progression of the syndrome are largely unknown...
September 26, 2017: Scientific Reports
Minha Hong, Seung Yup Lee, Juhee Han, Jin Cheol Park, Yeon Jung Lee, Ram Hwangbo, Hyejung Chang, Seong Woo Cho, Soo Young Bhang, Bongseog Kim, Jun Won Hwang, Geon Ho Bahn
Children with autism are often medicated to manage emotional and behavioral symptoms; yet, data on such pharmacotherapy is insufficient. In this study, we investigated the Korean National Health Insurance Claims Database (NHICD) information related to autism incidence and psychotropic medication use. From the 2010-2012 NHICD, we selected a total of 31,919,732 subjects under 19 years old. To examine the diagnostic incidence, we selected patients who had at least one medical claim containing an 10th revision of International Statistical Classification of Diseases and Related Health Problems (ICD-10) code for pervasive developmental disorder, F84, not diagnosed in the previous 360 days...
October 2017: Journal of Korean Medical Science
Stefan P Tarnawsky, Michihiro Kobayashi, Rebecca J Chan, Mervin C Yoder
Juvenile myelomonocytic leukemia (JMML) is a pediatric myeloproliferative neoplasm that bears distinct characteristics associated with abnormal fetal development. JMML has been extensively modeled in mice expressing the oncogenic KrasG12D mutation. However, these models have struggled to recapitulate the defining features of JMML due to in utero lethality, nonhematopoietic expression, and the pervasive emergence of T cell acute lymphoblastic leukemia. Here, we have developed a model of JMML using mice that express KrasG12D in multipotent progenitor cells (Flt3Cre+ KrasG12D mice)...
October 2, 2017: Journal of Clinical Investigation
Paramala Santosh, Kate Lievesley, Federico Fiori, Jatinder Singh
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT...
June 21, 2017: BMJ Open
Larissa Lyra, Luiz Eduardo Rizzo, Camila Sá Sunahara, Daniela Vianna Pachito, Carolina de Oliveira Cruz Latorraca, Ana Luiza Cabrera Martimbianco, Rachel Riera
CONTEXT AND OBJECTIVE: Autism spectrum disorders (ASDs) include autistic disorder, Asperger's disorder and pervasive developmental disorder. The manifestations of ASDs can have an important impact on learning and social functioning that may persist during adulthood. The aim here was to summarize the evidence from Cochrane systematic reviews on interventions for ASDs. DESIGN AND SETTING: Review of systematic reviews, conducted within the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo...
March 2017: São Paulo Medical Journal, Revista Paulista de Medicina
David Geier, Janet Kern, Mark Geier
PURPOSE: Contradictory studies suggest that some neonatal factors may be associated with a pervasive developmental disorder (PDD) diagnosis, but limited data is available from longitudinal, prospective medical record assessments. MATERIALS AND METHODS: The present hypothesis-testing longitudinal, case-control study evaluated birth characteristics among cases diagnosed with a PDD in comparison to controls by examining prospectively collected automated medical records within the Vaccine Safety Datalink (VSD) database...
May 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
Louise K Hoeffding, Betina B Trabjerg, Line Olsen, Wiktor Mazin, Thomas Sparsø, Anders Vangkilde, Preben B Mortensen, Carsten B Pedersen, Thomas Werge
Importance: Microdeletions and duplications have been described at the 22q11.2 locus. However, little is known about the clinical and epidemiologic consequences at the population level. Objective: To identify indicators of deletions or duplications at the 22q11.2 locus and estimate the incidence rate ratios (IRRs) and absolute risk for psychiatric disorders in clinically identified individuals with 22q11.2 deletion or duplication. Design, Setting, and Participants: A Danish nationwide register study including all individuals recorded in the Danish Cytogenetic Central Register with a 22q11...
March 1, 2017: JAMA Psychiatry
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
Enrico Danzer, Casey Hoffman, Jo Ann D'Agostino, Marsha Gerdes, Judy Bernbaum, Ryan M Antiel, Natalie E Rintoul, Lisa M Herkert, Alan W Flake, N Scott Adzick, Holly L Hedrick
OBJECTIVE: To evaluate neurodevelopmental sequelae in congenital diaphragmatic hernia (CDH) children at 5years of age. MATERIALS AND METHODS: The study cohort of 35 CDH patients was enrolled in our follow-up program between 06/2004 and 09/2014. The neurodevelopmental outcomes assessed at a median of 5years (range, 4-6) included cognition (Wechsler Preschool and Primary Scale of Intelligence [WPPSI], n=35), Visual-Motor-Integration (n=35), academic achievement (Woodcock-Johnson Tests of Achievement, n=25), and behavior problems (Child Behavior Check List [CBCL], n=26)...
March 2017: Journal of Pediatric Surgery
Maina Kariuki, Alessandra Raudino, Melissa J Green, Kristin R Laurens, Kimberlie Dean, Sally A Brinkman, Rhoshel K Lenroot, Enwu Liu, Felicity Harris, Luming Luo, Vaughan J Carr
AIM: Childhood infectious diseases can be associated with later physical and psychological ill health, and the effects of this association may be evident during early childhood development. This study aimed to examine the effects of hospitalisation for early life infection on early childhood development. METHODS: Hospital admission data for infection were obtained from the New South Wales Ministry of Health Admitted Patient Data Collection for 87 026 children, for whom the Australian Early Development Census (AEDC) was completed in their first year of formal schooling (age approximately 5 years)...
September 2016: Journal of Paediatrics and Child Health
Pauline Charruau, Rachel A Johnston, Daniel R Stahler, Amanda Lea, Noah Snyder-Mackler, Douglas W Smith, Bridgett M vonHoldt, Steven W Cole, Jenny Tung, Robert K Wayne
Gene expression levels change as an individual ages and responds to environmental conditions. With the exception of humans, such patterns have principally been studied under controlled conditions, overlooking the array of developmental and environmental influences that organisms encounter under conditions in which natural selection operates. We used high-throughput RNA sequencing (RNA-Seq) of whole blood to assess the relative impacts of social status, age, disease, and sex on gene expression levels in a natural population of gray wolves (Canis lupus)...
August 2016: Molecular Biology and Evolution
Savindika Chamari Nawarathna, Sonu Hangma Subba, Arunav Guha
INTRODUCTION: According to the World Health Organization (WHO), mental health disorders are one of the leading causes of disability worldwide and it is as common in children. Anywhere between one to three children may be suffering from psychiatric disorders at any point in time. AIM: This study intended to find the pattern of psychiatric disorders and associated sociodemographic factors among children attending the psychiatric department in a tertiary care hospital in Southern India...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
Sukhleen Kour, Pramod C Rath
Around 90% of the mammalian genome undergoes pervasive transcription into various types of small and long regulatory noncoding RNAs, whereas only ∼ 1.5% codes for proteins. Long noncoding RNAs (lncRNAs) constitute diverse classes of sense- and antisense transcripts that are abundantly expressed in the mammalian central nervous system (CNS) in cell type- and developmental stage-specific manners. They are implicated in brain development, differentiation, neuronal plasticity, and other cognitive functions. Mammalian brain requires the vitamin A metabolite all-trans retinoic acid (atRA) for its normal development, differentiation, and cell-fate determination...
February 2016: Journal of Molecular Neuroscience: MN
David A Geier, Janet K Kern, Brian S Hooker, Lisa K Sykes, Mark R Geier
BACKGROUND: Previously, investigators suggested that diagnostic substitution from other diagnoses, e.g., mental retardation (MR) and/or cerebral palsy (CP) to pervasive developmental disorder (PDD) is a driving factor behind increases in autism. This study evaluated potential diagnostic substitution among subjects diagnosed with PDD vs. MR or CP by examining birth characteristic overlap. METHODS: SAS(®) and StatsDirect software examined medical records for subjects within the Vaccine Safety Datalink database who were Health Maintenance Organization-enrolled from birth until diagnosed with an International Classification of Disease, 9th revision (ICD-9) outcome of PDD (299...
2015: Frontiers in Pediatrics
Gheona Altarescu, Rachel Beeri, Galit Lazer-Derbeko, Talia Eldar-Geva, Avraham Steinberg, Ephrat Levy-Lahad, Paul Renbaum
New technologies are revealing genetic variants of unknown significance (VUS), raising questions about the indications that call for preimplanation genetic diagnosis (PGD). Two couples requesting PGD for VUS are presented. The first couple requested PGD for Lynch syndrome. Whole exome sequencing identified in a healthy male with a family history of Lynch-associated tumours, a MLH1 missense variant. The variant had not been reported as pathogenic, but was predicted as damaging by algorithms. The second couple had a child diagnosed with pervasive developmental disorder and intellectual disability, carrying a microduplication on chr:Xp...
November 2015: Reproductive Biomedicine Online
Richard A Prayson, Jordan M Gales
The most commonly identified pathologies in patients with medically intractable epilepsy include focal cortical dysplasia, hippocampal sclerosis, tumors, and remote ischemic damage. Surgery has proven to be an effective therapeutic modality in most of such patients. The coexistence of multiple pathologies in resected tissues is well documented, particularly ganglioglioma and focal cortical dysplasia. Cases of triple pathology are, however, extraordinarily unusual. We report 2 cases of triple pathology including hippocampal sclerosis, ganglioglioma, and focal cortical dysplasia...
October 2015: Annals of Diagnostic Pathology
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