Results 61 to 70 of about 309,795 (229)

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, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Association of CHMP4B and autophagy with micronuclei : implications for cataract formation [PDF]

, 2014
Autophagy is a mechanism of cellular self-degradation that is very important for cellular homeostasis and differentiation. Components of the endosomal sorting complex required for transport (ESCRT) machinery are required for endosomal sorting and also ...
Nezis, Ioannis P., Stenmark, H. (Harald), Sagona, Antonia P.   +2 more
core   +1 more source

Clinical Features of Congenital and Developmental Cataract in East China: A Five-year Retrospective Review

Scientific Reports, 2017
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, Yu Du, Wenwen He, Ting Sun, Yinglei Zhang, Ruiqi Chang, Keke Zhang, Yi Lu   +7 more
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Clinical Characteristics and Surgical Procedures for Children with Congenital Membranous Cataract

Journal of Ophthalmology, 2017
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, Daoman Xiang, Zheng Guo, Lihong Chen, Feng Chen, Jianxun Wang, Wanhua Xie, Shiping He   +7 more
doaj   +1 more source

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

BMC Ophthalmology, 2022
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

Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies

The Laryngoscope, EarlyView.
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, Jennifer Siu, Clare Richardson, J. Nathaniel Perkins, Kaitlyn Zenner, Kevin Koo, Francisco Perez, James Bennett, Randall Bly, Danial K. Hallam, Amy Geddis, Jonathan A. Perkins   +11 more
wiley   +1 more source

Novel mutations in HSF4 cause congenital cataracts in Chinese families

BMC Medical Genetics, 2018
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, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang   +12 more
doaj   +1 more source

Capsulotomy With Supine Nd:YAG Laser in Children

Lasers in Surgery and Medicine, EarlyView.
ABSTRACT Objectives To evaluate the visual outcomes of Nd:YAG laser posterior capsulotomy performed in the supine position under general anesthesia in children with visual axis opacification after cataract surgery. Materials and Methods A retrospective clinical case series of 13 eyes of 9 children with visual axis opacification following congenital ...
Nike Klun, Manca Tekavčič Pompe
wiley   +1 more source

Free left ventricular wall rupter in a newborn. [PDF]

, 2015
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, Hutter, Damian, Wagner, B., Kreiter, Bianca, Hutter, Damian Marco, Kadner, A, Riedel, T., Pfammatter, Jean-Pierre, Riedel, Thomas, Kadner, Alexander   +9 more
core   +1 more source