Results 131 to 140 of about 9,166,726 (386)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Eyelid retraction during smiling in a patient with monocular congenital ptosis: a case report

open access: yesBMC Ophthalmology
Background Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular ...
Yiyang Zhao, Jing Fu, Jie Hao
doaj   +1 more source

THE USE OF ANTIBACTERIAL EYE OINTMENTS IN THE TREATMENT OF ACUTE AND CHRONIC DISEASES OF THE EYELIDS AND CONJUNCTIVA

open access: hybrid, 2023
Kakharova Dildora Maribjanovna   +3 more
openalex   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Eyelid Skin Disorders and Their Impact on the Ocular Surface

open access: yesOkulistyka
The skin is a barrier between the body and the external environment, it is the largest human organ. Healthy skin microbiota is harmless and beneficial to the skin. As a microbiological barrier, it protects against harmful microorganisms.
Ewa Mrukwa-Kominek
doaj   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

The role of Helicobacter pylori in the development of inflammatory eyelid diseases

open access: yesActa Biomedica Scientifica
Background. Blepharitis is one of the most common eye diseases: it accounts for 23.3 % of the total number of patients with inflammatory eye diseases worldwide. 40.2 % of these patients seek outpatient care.
E. P. Kazantseva   +8 more
doaj   +1 more source

A rare case of an idiopathic extraocular muscle abscess [PDF]

open access: yes, 2015
Diplopia has a diverse range of ophthalmological, neurological, autoimmune, neoplastic and infectious causes. However it is very rare for an extraocular muscle abscess to occur.
De Bono Agius, Maria, Vella, Mario
core  

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

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