Results 61 to 70 of about 338,913 (237)
The Anatomical Record, EarlyView.Abstract The claspers are the copulatory organs in male elasmobranchs, responsible for directing the semen into the female cloaca (C). However, the microscopic morphology of the claspers remains poorly understood. This study describes the morphology of the claspers and clasper glands (CGs) of cururu stingray (Potamotrygon wallacei) at different ...
Matheus Samuel Cunha Braga +4 more
wiley +1 more source
2p21 Deletions in hypotonia-cystinuria syndrome
, 2012 The significant role of the SLC3A1 gene in the aetiology of cystinuria is meanwhile well established and more than 130 point mutations have been reported. With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene
Venghaus, Andreas +7 more
core +1 more source
Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation
Annals of the Child Neurology Society, EarlyView.ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed +5 more
wiley +1 more source
Two novel deletions in hypotonia-cystinuria syndrome
, 2012 Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in ...
Régal, Luc +12 more
core +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin +8 more
wiley +1 more source
Sultan Qaboos University Medical Journal, 2013 Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic ...
Roshan Koul +4 more
doaj
Clinical Pharmacology &Therapeutics, EarlyView.Medication use during breastfeeding is common, yet data on drug transfer into breast milk and infant exposure remain limited. This study describes real‐world requests concerning medication compatibility with breastfeeding managed by the Lyon pharmacovigilance center over five years.
Blandine Bertin +8 more
wiley +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Indian Journal of Paediatric Dermatology, 2020 Subcutaneous fat necrosis (SCFN) in a newborn is a rare self-limiting disorder associated with fatty tissue inflammation, mostly seen in term and postterm neonates.
Rahul Choudhary +2 more
doaj +1 more source
A rare cause of neonatal hypotonia in infants; Zellweger syndrome
European Journal of Therapeutics, 2016 The list of disorders that may present with neonatal hypotonia is long, and the diagnostic process often is complex. Knowledge of the relative frequency of disorders that present with significant neonatal hypotonia will help in the selection of appropriate investigations. modality.
ayse ozcelik +4 more
openaire +1 more source