Results 31 to 40 of about 1,426,220 (198)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Exotropia Is the Main Pattern of Childhood Strabismus Surgery in the South of China: A Six-Year Clinical Review

Journal of Ophthalmology, 2016
Purpose. To evaluate the distribution pattern and changes of strabismus surgery in children based on the data collected from a local eye hospital in the south of China between 2006 and 2011. Methods.
Xinping Yu, Zhouduo Ji, Huanyun Yu, Meiping Xu, Jinling Xu   +4 more
doaj   +1 more source

Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry

BMC Ophthalmology, 2021
Background There is a relative lack of information on the incidence and treatment of vision problems in Prader-Willi syndrome (PWS). Using data from the Global PWS Registry, we performed a cross-sectional study of vision problems in PWS.
Jessica E. Bohonowych, Caroline J. Vrana-Diaz, Jennifer L. Miller, Shawn E. McCandless, Theresa V. Strong   +4 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Histamine and the mechanisms of nausea and vomiting: Translating the uncertain pharmacology of cyclizine

British Journal of Clinical Pharmacology, EarlyView.
Abstract Cyclizine is a long‐established, short‐acting drug, registered for preventing motion sickness, post‐operative nausea and vomiting (PONV) and ‘vomiting of known cause’. The latter is not defined but may include pregnancy and patients receiving palliative care, historically accepted without large, controlled trials.
Gareth J. Sanger, Paul L. R. Andrews
wiley   +1 more source

Postoperative outcomes and predictors of functional sequelae following hemispheric surgery in Rasmussen's encephalitis: A retrospective cohort study from the global pediatric epilepsy surgery registry

Epileptic Disorders, EarlyView.
Abstract Objective Rasmussen's encephalitis (RE) is a rare and progressive, immune‐mediated epileptic encephalopathy characterized by drug‐resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological ...
Krish Nair, Nicholas Benjamin, Emily Harford, Levi Shelton, Ariel Heller, Katherine Cobb‐Pitstick, Luis Fernandez, Ross Carson, Monika Jones, William Welch, Taylor J. Abel, Ruba Al‐Ramadhani   +11 more
wiley   +1 more source

Stepped Strabismus Surgery

Clinical Ophthalmology, 2021
Amr Elkamshoushy, Ahmed Kassem Department of Ophthalmology, Faculty of Medicine, University of Alexandria, Alexandria, EgyptCorrespondence: Amr ElkamshoushyDepartment of Ophthalmology, Faculty of Medicine, University of Alexandria, Alazarita, Alexandria,
Elkamshoushy A, Kassem A
doaj  

Impact of Cataract Surgery on Vision-related Quality of Life in Patients with Strabismus: A Quasi-experimental Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Reduction in visual acuity and glare are common indications for cataract surgery in patients with strabismus. The amblyopic eye is particularly sensitive to blur, despite reduced visual acuity and contrast sensitivity.
AB Chirag, T Sangeetha, SM Darshan
doaj   +1 more source

Factors Predisposing to Amblyopia After Exotropia Surgery

Acta Medica Iranica, 2021
- Amblyopia (lazy eye) is one of the significant complications of strabismus surgery. It is the most important cause of unilateral visual impairment in both children and adults.
Qader Motarjemizadeh, Naser Samadi Aidenloo   +1 more
doaj   +1 more source