Results 81 to 90 of about 65,000 (292)

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

Stepped strabismus surgery

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2019
To present stepped strabismus surgery as a novel technique in cases of small to moderate angle strabismus.Retrospective chart review of cases of stepped strabismus surgery from 2010 untill 2018. In stepped surgery, the first muscle is operated on under rapid induction-recovery IV propofol infusion. Patient is assessed in the OR.
Amr Elkamshoushy, Ahmed Kassem
openaire   +5 more sources

Vision and Reading Difficulties Part 2: Optometric correlates of reading difficulties [PDF]

, 2009
In this second article of the series on vision and reading difficulties, the optometric factors (for example refractive error and orthoptic function) that may be associated with reading problems are discussed in detail.
Allen, Peter M, Evans, Bruce J W, Wilkins, Arnold   +2 more
core  

The Effect of Remimazolam Administration on Emergence Delirium in Children After General Anesthesia: A Systematic Review With Meta‐Analysis of Randomized Controlled Trials

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Emergence delirium commonly occurs in pediatric patients after general anesthesia, causing distress and potential harm. Remimazolam, an ultra‐short‐acting benzodiazepine, has recently been introduced in pediatric anesthesia, but its preventive role against emergence delirium remains unclear.
Ji‐Na Kim, Hyo‐Seok Na, Hyun‐Jung Shin   +2 more
wiley   +1 more source

Mediation Effect of Resilience Between Social Support and Depression Symptoms in Patients With Strabismus: A Cross-Sectional Study [Corrigendum]

Journal of Multidisciplinary Healthcare
Mo Y, Zhang H, Yu X, et al. J Multidiscip Healthc. 2025;18:459–468. Page 461, Ethical Consideration and Data Collection Procedure section, line 2, the text “(No. 2023KYPJ271)” should read “(No.
Mo Y, Zhang H, Yu X, Xu Z, Xiao H, Gao L, Wang Y   +6 more
doaj  

Orthoptic status before and immediately after heroin detoxification [PDF]

, 2004
Aim: To determine whether changes in orthoptic status take place during withdrawal from heroin and/or methadone. Method: A prospective study of patients, using a repeated measures design, attending a 5 day naltrexone compressed opiate detoxification ...
Beaini, A.Y., Carr, M.P., Firth, A.Y., Pulling, S.   +3 more
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source