Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
JPGN Reports, EarlyView.Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Is Ankyloglossia Correlated With Pediatric Sleep Disordered Breathing? A Systematic Review
The Laryngoscope, EarlyView.An increasing breadth of conditions and symptoms are being ascribed to ankyloglossia. As diagnosis of ankyloglossia and frequency of frenotomy exponential increase, it is important to have an understanding of the associated evidence. This systematic review summarizes the evidence for ankyloglossia's association with sleep disordered breathing in ...
Nainika Venugopal +9 more
wiley +1 more source
Transoral Robotic Lingual Tonsillectomy for Pediatric Obstructive Sleep Apnea
The Laryngoscope, EarlyView.ABSTRACT Objectives Our objective was to investigate the safety and efficacy of transoral robotic surgery (TORS) lingual tonsillectomy (LT) with and without epiglottopexy and to compare it with non‐robotic approaches for children with obstructive sleep apnea (OSA).
Daniel J. Campbell +4 more
wiley +1 more source
Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by
, 2023 Shichao Zhao +9 more
openalex +1 more source
Vasopressin in Oligohydramnios-Induced Lung Hypoplasia [PDF]
, 1990 Calvin T Shen +3 more
openalex +1 more source
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
Ultrasonic Ratio of Fetal Thoracic to Abdominal Circumference: An Association with Fetal Pulmonary Hypoplasia [PDF]
, 1988 openalex +1 more source
Smartphone-based, rapid, wide-field fundus photography for diagnosis of pediatric retinal diseases [PDF]
, 2019 PurposeAn important, unmet clinical need is for cost-effective, reliable, easy-to-use, and portable retinal photography to evaluate preventable causes of vision loss in children.
Besirli, Cagri G. +10 more
core +2 more sources
Anisotropy Analysis of Bamboo and Tooth Using 4‐Angle Polarization Micro‐Spectroscopy
Nano Select, EarlyView.Super‐resolution via orientation: spatial distribution of specific molecular vibrations are revealed at 1/20 of the diffraction limit. ABSTRACT To investigate the anisotropic properties of biomaterials, two distinct classes are considered as follows: polymer‐based (cellulose in plants) and crystalline‐based (enamel in teeth), each demonstrating ...
Meguya Ryu +8 more
wiley +1 more source
Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection
Methodist DeBakey Cardiovascular JournalAgenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of ...
Esther Collado +3 more
doaj +1 more source