Results 291 to 300 of about 1,296,099 (381)

Pediatric Dacryocystorhinostomy

Indian Journal of Ophthalmology, 2017
openaire   +3 more sources

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

The Pediatric Experience Collaborative: Paving the Way in Pediatric Experience. [PDF]

J Patient Exp
Hamilton L, House T, Sewell TB, Baden H, Combs B, Toomey SL, Saeed S, Rojas J, Warneke M, Hoff M, Aken'Ova A, Rubino L, Williams DI, Hanke SP.   +13 more
europepmc   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Non-accidental Trauma as an Example of an Underestimated Problem in Pediatrics: Maltreated Child Syndrome and Shaken Baby Syndrome. [PDF]

Cureus
Kubińska K, Zgoda-Aleksandrowicz M, Franczak-Young A, Hałabuda A, Kwiatkowski S.   +4 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Steroid-sensitive nephrotic syndrome in children: Korean Society of Pediatric Nephrology clinical practice recommendations. [PDF]

Kidney Res Clin Pract
Lee HK, Cho MH, Cho MH, Lee YH, Kim JY, Lee JH, Kang HG, Park E, Suh JS, Park DA, Cho H.   +10 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

New Trends in Pediatric Hospitalizations for Acute Intoxications: A Single-Center Long-Term Retrospective Study. [PDF]

Children (Basel)
Vrkić Boban I, Saraga M.
europepmc   +1 more source

Author Correction: Time to recovery and its predictors among neonates undergone phototherapy at Comprehensive Specialized hospitals of the Northwest Ethiopia. [PDF]

Sci Rep
Gedefaw GD, Abuhay AG, Daka DT, Wondie WT, Gonete AT, Getaneh FB, Endeshaw YS, Bazezew AM, Legesse BT, Worku DT, Ayenew ME, Abate AT.   +11 more
europepmc   +1 more source