Results 71 to 80 of about 35,899 (261)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
Quality improvement in the golden hour for premature infants: a scoping review
BMC PediatricsBackground and objective Evidence-based research has shown that golden hour quality improvement (QI) measures can improve the quality of care and reduce serious complications of premature infants.
Lijuan Sheng +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Recurrent Staphylococcal Scalded Skin Syndrome in an Extremely Low-Birth-Weight Neonate
American Journal of Perinatology Reports, 2017 Staphylococcal scalded skin syndrome (SSSS) in premature infants is a rare condition. We present SSSS in an extremely low-birth-weight (ELBW) infant with recurrent and confirmed bacterial sepsis.
Jennifer Davidson +5 more
doaj +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Nutrición HospitalariaIntroduction: Infants with low birth weights are provided with hospital nutrition support to enhance their survivability and body weights. However, different hospitals have different nutrition support formulas.
Firas S. Azzeh +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
BMC Pediatrics, 2012 Objective The aim of this study was to analyze the evolution from 1997 to 2009 of survival without significant (moderate and severe) bronchopulmonary dysplasia (SWsBPD) in extremely-low-birth-weight (ELBW) infants and to determine the influence of ...
Botet Francesc +5 more
doaj +1 more source
Preterm Birth of Extremely Low Birth Weight Infants
, 2012 Approximately 13% of births in the United States are preterm, defined as occurring before 37 weeks of gestation. This results in more than 540,000 infants a year born prematurely. In other words, one out of every 8 infants is born premature. Even more disturbing is that despite advances in neonatal and perinatal medicine, the incidence of prematurity ...
Jonathan Muraskas +3 more
openaire +2 more sources