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Congenital/developmental cataract is a significant cause of blindness in children worldwide. Full knowledge of clinical features is essential for early diagnosis and proper treatment to prevent irreversible visual impairment. We conducted a retrospective
Xiangjia Zhu +7 more
doaj +1 more source
Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies
In this retrospective series, all seven patients with orbital lymphatic malformations had intracranial vascular anomalies consistent with cerebrofacial venous metameric syndrome and hotspot PIK3CA variants identified through tissue‐based sequencing. Five patients treated with alpelisib experienced symptom improvement within 6 months.
Kelsey A. Loy +11 more
wiley +1 more source
Free left ventricular wall rupter in a newborn. [PDF]
Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter +9 more
core +1 more source
Clinical Characteristics and Surgical Procedures for Children with Congenital Membranous Cataract
Objective. In a group case series, the clinical characteristics of congenital membranous cataract in children were studied to establish a system of classification and determine the surgical method suited for each type. Methods.
Jingji Long +7 more
doaj +1 more source
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
PURPOSE: To compare the outcomes of congenital cataract surgery using intraoperative intracameral triamcinolone versus postoperative oral prednisolone to modulate ocular inflammation.SETTING: Department of Congenital Cataract, Altino Ventura Foundation ...
Nose, Walton [UNIFESP] +5 more
core +1 more source
Cytomegalovirus Congenital Cataract [PDF]
Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %.
Wahyutomo, Ridha
core +1 more source
Novel mutations in HSF4 cause congenital cataracts in Chinese families
Background Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder.
Zongfu Cao +12 more
doaj +1 more source
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
Background To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China. Methods Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential ...
Ruru Guo, Dandan Huang, Jian Ji, Wei Liu
doaj +1 more source
Congenital Cataract a review of the literature
This article explores congenital cataract with emphasis on the effectiveness of early screening, diagnosis, pre-assessment and the timing of surgery. Congenital cataract is a rare condition.
Cooney, Alison, McCutcheon, Karen
core +1 more source

