Results 41 to 50 of about 36,510 (240)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Characteristics of Anisometropic Patients with and without Strabismus

Türk Oftalmoloji Dergisi, 2018
Objectives: To evaluate the risk factors for strabismus in patients with anisometropia by comparing degree of anisometropia, depth of amblyopia, and binocular visual function in anisometropic patients with and without strabismus.
Reşat Duman, Huban Atilla, Emine Çatak
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

Wooden Orbital Foreign Body in a Six-year-old Boy – Case Report

Okulistyka
Introduction Orbital foreign bodies, particularly of organic origin, continue to pose significant diagnostic and therapeutic challenges. Clinical signs suggesting the presence of an orbital foreign body include decreased vision, pain, restricted ocular ...
Beata Ewa Urban, Jan Koptielow, Monika Oziębło-Kupczyk, Alina Bakunowicz-Łazarczyk   +3 more
doaj   +1 more source

Evaluation of Corneal Endothelium in Adolescents with Juvenile Glaucoma

Journal of Ophthalmology, 2015
Purpose. To evaluate the endothelial cell density (ECD) and central corneal thickness (CCT) in adolescents with juvenile open-angle glaucoma (JOAG) and ocular hypertension (OH) and to investigate the influence of topical antiglaucoma medications on ECD ...
Beata Urban, Alina Bakunowicz-Łazarczyk, Marta Michalczuk, Małgorzata Krętowska   +3 more
doaj   +1 more source

From Confusion to Clarity: A Multi‐Stage Process Framework for Understanding Consumer Confusion

Journal of Consumer Behaviour, EarlyView.
ABSTRACT This paper reconceptualizes consumer confusion as a multi‐stage temporal process rather than a static outcome, addressing theoretical fragmentation in existing antecedent‐consequence models. By integrating cognitive appraisal, contextual amplification, and adaptive coping within a unified framework, we explain how confusion unfolds rather than
Fatih Celik, Erdogan Koc
wiley   +1 more source

The impact of orbital bony or fat decompression on the outcome of strabismus surgery in patients with Graves’ ophthalmopathy

Journal of the Formosan Medical Association, 2019
Background/Purpose: To compare the outcomes of strabismus surgery in patients with Graves’ ophthalmopathy (GO) who had undergone bone removal orbital decompression (BROD) or fat removal orbital decompression (FROD) with those who had not undergone any ...
Jason Kian Seng Lee, Chen Hsieh, Yi-Hsuan Wei, Shu-Lang Liao   +3 more
doaj   +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

Systolic hypertension as side effect of topical low dose atropine drops

American Journal of Ophthalmology Case Reports
Purpose: To present a case of increased systemic hypertension and pupil dilation related to low dose atropine eyedrops. Observations: A thirteen-year-old male with progressive myopia received atropine 0.05% ophthalmic drops to slow down myopia ...
Barry N. Wasserman, Erik Massenzio, Karen Lee, David A. Plager   +3 more
doaj   +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