Results 251 to 260 of about 1,349,761 (336)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama   +6 more
wiley   +1 more source

Acid Suppression in Mild‐Moderate Laryngomalacia Without GERD: A Randomized Controlled Trial

open access: yesThe Laryngoscope, EarlyView.
Infants ≤ 6 months old with mild to moderate laryngomalacia at a tertiary children's hospital were randomized to famotidine and feeding modifications (AST) or feeding modifications alone (no‐AST). Patients randomized to AST (n = 20) and no‐AST (n = 20) had comparable improvement on Laryngomalacia Airway Symptom Score and Infant Gastroesophageal Reflux ...
Amber D. Shaffer   +8 more
wiley   +1 more source

Source-tracking Klebsiella outbreaks in premature infants using a novel amplicon fingerprinting method. [PDF]

open access: yesAntimicrob Resist Infect Control
Matson AP   +7 more
europepmc   +1 more source

A Learning Health System Approach to Developing a Perinatal Safety Framework and Guide to Reduce Disparities in Maternal Harm

open access: yesLearning Health Systems, EarlyView.
ABSTRACT Introduction Maternal harm disproportionately affects Black birthing individuals, with systemic and provider‐related factors contributing significantly to preventable severe maternal morbidity (SMM) and maternal mortality. Despite the severity of the crisis, traditional maternal safety approaches, which typically exclude patient voices ...
Angela D. Thomas   +10 more
wiley   +1 more source

The Management of Parkinson's Disease Before, during and after Pregnancy—an MDS Scientific Issues Committee Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Pregnancy after a Parkinson's diagnosis presents complex challenges. Due to the paucity of literature, there is no evidence‐based guidelines and protocols for preconception care, management of pregnancy, childbirth and the postpartum period in women with early‐onset Parkinson's disease (PD).
Alexander C. Lehn   +18 more
wiley   +1 more source

Improving the outcome of infants born at \u3c30 weeks\u27 gestation - a randomized controlled trial of preventative care at home [PDF]

open access: yes, 2009
Anderson, Peter J   +8 more
core   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova   +3 more
wiley   +1 more source

Pregnancy complications in women with an inborn error of immunity: a systematic review. [PDF]

open access: yesCurr Opin Allergy Clin Immunol
Yakut B   +6 more
europepmc   +1 more source

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