Results 51 to 60 of about 214,123 (285)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +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

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

SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY

Zdravniški Vestnik, 2003
Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
doaj  

Botulinum toxin augmented surgery versus conventional surgery in the management of large-angle concomitant esotropia: A randomized clinical trial

Oman Journal of Ophthalmology
BACKGROUND: The surgical management of large-angle concomitant esotropia is challenging with high reoperation rates. This study aims to assess the effectiveness and safety of intraoperative botulinum toxin A (BTA) augmentation compared to surgery alone ...
Sara Alattar, Mohamed Sayed Saad, Gamal El-Deen Rashed, Mohamed Anwar   +3 more
doaj   +1 more source

Current concepts in concomitant strabismus management

Background: Strabismus is the term used to describe a misalignment of the eyes. It results from an abnormality of the neuromuscular control of eye movements. However, our current understanding of this anomaly remains incomplete. Although strabismus is a
Paduca, Ala
core   +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

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Ultra‐Fast and Energy‐Efficient PZT Optical Tunable Delay Lines for Programmable Photonic Systems

Laser &Photonics Reviews, EarlyView.
Thin‐film PZT enables optical tunable delay lines that simultaneously offer sub‐nanosecond switching, low propagation loss, and zero‐static‐power programmability. A five‐bit on‐chip delay line provides a maximum delay of 387.5 ps with a resolution of 12.5 ps, while reconfigurable MZI splitting ratios further enable non‐volatile optical arbitrary ...
Cunyu Shi, Chenlei Li, Wei Chen, Shengjie Tang, Tao Shu, Haojie Zhu, Haorui Liu, Yueyang Zhang, Long Zhang, William Shieh, Feng Qiu, Daoxin Dai   +11 more
wiley   +1 more source