Results 331 to 340 of about 2,772,382 (389)

Knowledge, attitude and practice of rehabilitation management of the caregivers of pediatric patients with hemiplegia. [PDF]

Sci Rep
Guo Y, Li X, Jia G, Zhan J, He Z, Yuan G, Liu C, Lai Y.   +7 more
europepmc   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Global Research Trends in Pediatric Acute Respiratory Distress Syndrome: A Bibliometric Analysis from 2014 To 2024. [PDF]

J Epidemiol Glob Health
Chen K, Chen C, Zheng X, Chen S, Pan G, Liang Y.   +5 more
europepmc   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Development of the Pediatric Nursing Specialty in Spain: A Critical Analysis of Its History, Current Situation, and Regional Disparities: A Narrative Review. [PDF]

Nurs Rep
da Rocha-Baptista P, Santos-Miranda E, Vázquez-Lago JM.   +2 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Prevalence, pathogenic bacteria, and risk factors associated with pediatric sepsis among under five children in a rural district hospital in Rwanda. [PDF]

PLoS One
Orikiriza P, Ruhangaza D, Ayebare DS, Bizimana E, Niyibizi JB, Nshimiyimana I, Mujyuwisha L, Bekele A.   +7 more
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Consensus Statement on Metabolic Dysfunction-Associated Steatotic Liver Disease in Children and Adolescents From the Joint TASL-TSPGHAN Expert Committee. [PDF]

JGH Open
Lin YC, Liao FM, Chao HC, Chen AC, Jeng YM, Lin CC, Tiao MM, Yang YJ, Yeung CY, Chen HL, Ni YH.   +10 more
europepmc   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source