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https://www.readbyqxmd.com/read/29344471/a-6-month-old-girl-with-incontinentia-pigmenti-presenting-as-status-epilepticus
#1
Moon Young Seo, Su Jeong You, Soung Hee Kim, Woo Ho Cho, Jong Hee Chae
Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection and fever, the patient exhibited status epilepticus. Brain magnetic resonance imaging studies of the patient were compatible with the findings of acute encephalopathy in IP...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29333806/asq-3-validation-of-the-ages-and-stages-questionnaire-for-the-detection-of-neurodevelopmental-disorders-in-argentine-children
#2
Ana M Romero Otalvaro, Nora Grañana, Nadia Gaeto, María de Los Á Torres, María N Zamblera, María A Vasconez, Claudia Misenta, María E Rouvier, Jane Squires
INTRODUCTION: The systematic assessment of child development in the first years of life is an essential component of pediatric health checkups. The Ages and Stages Questionnaire, third edition (ASQ-3) is the most validated scale, and has been recommended by the UNICEF to verify if children have a normal neurological development. It is a monitoring instrument to assess the main developmental areas, including communication, gross motor, fine motor, personal-social, and problem solving skills, and to compare the local population to the international development standards...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#3
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29303140/optic-disc-coloboma-in-two-nigerian-siblings-case-report-and-review-of-literature
#4
Y O Babalola, O O Olawoye, P O Idam
We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29237066/early-motor-developmental-milestones-and-schizotypy-in-the-northern-finland-birth-cohort-study-1966
#5
Svetlana Filatova, Heli Koivumaa-Honkanen, Golam M Khandaker, Estelle Lowry, Tanja Nordström, Tuula Hurtig, Kristiina Moilanen, Jouko Miettunen
Delayed motor developmental milestones have been reported to be associated with schizophrenia in previous studies, but no study has examined the relationship between early motor developmental milestones and schizotypy. We have examined this relationship in a prospective birth cohort.In the Northern Finland Birth Cohort 1966, data on 9 early motor developmental milestones were collected prospectively from visits to child welfare centers, and data on adult schizotypy were collected through a questionnaire (N = 4557-4674)...
December 9, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29227519/pediatric-poisoning-by-ingestion-developmental-overview-and-synopsis-of-national-trends
#6
Vincent R Lee, Michael Connolly, Diane P Calello
The American Association of Poison Control Centers' National Poison Data Surveillance System provides real-time toxico-surveillance and epidemiologic trends, and pediatric ingestions comprise most of those reports. The sequences in social and physical developmental milestones from young childhood to adolescence reveal the vulnerability of these age groups to a wide variety of potential poisonous ingestions. Most pediatric ingestions are exploratory. Some common agents associated with pediatric fatalities include disc batteries, laundry detergent "pods," opioid analgesics, acetaminophen, benzodiazepines, and amphetamines...
December 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#7
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29219138/organ-donation-in-india-scarcity-in-abundance
#8
Sandeep Sachdeva
In modern era, India witnessed its first successful corneal, kidney and cardiac transplant in the year 1960, 1967 and 1994 though the reverberations for organ donation and transplantation (ODT) existed since time-memorial with roots existing in Hindu mythology along with vivid example of Guru Dadheech and lord Ganesha. No country in the world is able to meets its organ requirement. Government of India promulgated Transplantation of Human Organ and Tissues Act in 1994 and with the view to enlarge its scope and promote organ donation government has brought new amendments as of year 2014 and 2017...
October 2017: Indian Journal of Public Health
https://www.readbyqxmd.com/read/29219137/bridging-miles-to-achieve-milestones-corporate-social-responsibility-for-primary-health-care
#9
Ruchie Gulati
Sustainable Developmental Goals aim to provide "Good health for all". The task though immense ,requires equitable and efficient distribution of health resources to the community, reached predominantly by the Primary Health Centres. Strengthening these centres is essential to attain the goal. Adequate health financing is one of the important determinants for utilizing the optimal potential of these centres . Pooling funds from alternate financing strategies as Corporate Social Responsibility (CSR) funds may give impetus and facilitate healthcare affordability to the underserved population...
October 2017: Indian Journal of Public Health
https://www.readbyqxmd.com/read/29210515/intrafamilial-variability-in-the-clinical-manifestations-of-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#10
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, Nancy J Mendelsohn, Virginie Jego, Rossella Parini
Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS)...
December 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29192865/electrocorticography-and-the-early-maturation-of-high-frequency-suppression-within-the-default-mode-network
#11
Kurt E Weaver, Andrew Poliakov, Edward J Novotny, Jared D Olson, Thomas J Grabowski, Jeffrey G Ojemann
OBJECTIVE The acquisition and refinement of cognitive and behavioral skills during development is associated with the maturation of various brain oscillatory activities. Most developmental investigations have identified distinct patterns of low-frequency electrophysiological activity that are characteristic of various behavioral milestones. In this investigation, the authors focused on the cross-sectional developmental properties of high-frequency spectral power from the brain's default mode network (DMN) during goal-directed behavior...
December 1, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29191797/web-based-intervention-to-teach-developmentally-supportive-care-to-parents-of-preterm-infants-feasibility-and-acceptability-study
#12
Thuy Mai Luu, Li Feng Xie, Perrine Peckre, Sylvana Cote, Thierry Karsenti, Claire-Dominique Walker, Julie Gosselin
BACKGROUND: Preterm birth affects 8% to 11% of the population and conveys a significant risk of developmental delays. Intervention programs that support child development have been shown to have a positive impact on early motor and cognitive development and on parental well-being. However, these programs are often difficult to implement in a real-life setting due to lack of resources. Hence, our multidisciplinary team developed Mieux Agir au Quotidien (MAQ) to teach developmentally supportive care to parents of preterm infants with the goal of improving child development and parental outcomes...
November 30, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#13
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29168188/the-relationship-between-social-play-and-developmental-milestones-in-wild-chimpanzees-pan-troglodytes-schweinfurthii
#14
Matthew R Heintz, Carson M Murray, A Catherine Markham, Anne E Pusey, Elizabeth V Lonsdorf
Social play is common among many group-living animals, but the benefits are not well understood. Proposed benefits include increased muscle coordination as the result of increased locomotor versatility and development, and strengthened social bonds through interactions with like-aged individuals. In this study, we used 33 years of long-term behavioral data on infant chimpanzees in Gombe National Park, Tanzania, to examine these potential benefits of social play, specifically how the percentage of time engaged in social play relates to motor and social developmental milestones...
November 23, 2017: American Journal of Primatology
https://www.readbyqxmd.com/read/29162182/child-temperament-and-teacher-relationship-interactively-predict-cortisol-expression-the-prism-of-classroom-climate
#15
Danielle S Roubinov, Melissa J Hagan, W Thomas Boyce, Marilyn J Essex, Nicole R Bush
Entry into kindergarten is a developmental milestone that children may differentially experience as stressful, with implications for variability in neurobiological functioning. Guided by the goodness-of-fit framework, this study tested the hypothesis that kindergarten children's (N = 338) daily cortisol would be affected by the "match" or "mismatch" between children's temperament and qualities of the classroom relational context. The robustness of these associations was also explored among a separate sample of children in third grade (N = 165)...
December 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/29151556/-an-integrative-review-of-home-care-service-for-pregnant-women-mothers-infants-and-toddlers-in-vulnerable-group
#16
REVIEW
Dasom Kim, Insook Lee
PURPOSE: This study was intended to integrate the evidence of home care service intervention for mothers and children in vulnerable groups through an integrative literature review. METHODS: We searched the MEDLINE (PubMED), EMBASE, Cochrane Central Register of Controlled Trials, CINAHL, DBpia databases. The quality of the articles was assessed by one doctoral researcher and verified by one professor of community health nursing who had participated in the systematic review of literature...
October 2017: Journal of Korean Academy of Nursing
https://www.readbyqxmd.com/read/29146144/drosophila-adult-muscle-development-and-regeneration
#17
REVIEW
Rajesh D Gunage, Nagaraju Dhanyasi, Heinrich Reichert, K VijayRaghavan
Myogenesis is a highly orchestrated, complex developmental process by which cell lineages that are mesodermal in origin generate differentiated multinucleate muscle cells as a final product. Considerable insight into the process of myogenesis has been obtained for the embryonic development of the larval muscles of Drosophila. More recently, the postembryonic development of the muscles of the adult fly has become a focus of experimental investigation of myogenesis since specific flight muscles of the fly manifest remarkable similarities to vertebrate muscles in their development and organization...
November 13, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29105008/impact-of-postpartum-mental-illness-upon-infant-development
#18
REVIEW
Casey Hoffman, Dena M Dunn, Wanjiku F M Njoroge
PURPOSE OF REVIEW: This review evaluates the state of the research regarding the effects of postpartum mental illness on the developing infant. It defines the scope of these disorders in the literature, and includes the impact of disorders referred to as perinatal mood and anxiety disorders (PMADs) on infants. RECENT FINDINGS: New research reveals that PMADs apply to not only mothers, but that fathers can also experience perinatal depression and anxiety. When untreated in a primary caregiver, PMADs adversely affect parental cognitions and beliefs, attachment to the infant, and the growing caregiver-infant relationship...
November 6, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29098049/the-development-of-national-entrustable-professional-activities-to-inform-the-training-and-assessment-of-public-health-and-preventative-medicine-residents
#19
Brent Moloughney, Kieran Moore, Damon Dagnone, David Strong
Background: Entrustable Professional Activities (EPAs) have emerged to bridge the gap between the learning of individual competencies and competence in real world practice. EPAs capture the critical core work of a discipline integrating competencies from multiple domains. This report describes the development of a set of EPAs for specialty training in Public Health and Preventive Medicine (PHPM) in Canada. Methods: The PHPM EPAs were developed using multiple existing sources...
June 2017: Canadian Medical Education Journal
https://www.readbyqxmd.com/read/29080469/when-and-how-does-labour-lead-to-love-the-ontogeny-and-mechanisms-of-the-ikea-effect
#20
Lauren E Marsh, Patricia Kanngiesser, Bruce Hood
We elevate our constructions to a special status in our minds. This 'IKEA' effect leads us to believe that our creations are more valuable than items that are identical, but constructed by another. This series of studies utilises a developmental perspective to explore why this bias exists. Study 1 elucidates the ontogeny of the IKEA effect, demonstrating an emerging bias at age 5, corresponding with key developmental milestones in self-concept formation. Study 2 assesses the role of effort, revealing that the IKEA effect is not moderated by the amount of effort invested in the task in 5-to-6-year olds...
October 25, 2017: Cognition
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