Results 61 to 70 of about 11,635 (210)

Transconjunctival levator muscle plication in mild to moderate congenital ptosis

Delta Journal of Ophthalmology, 2020
Purpose The aim of this study was to evaluate the efficacy, cosmetic result, and safety of transconjunctival plication of the levator muscle in the correction of simple congenital ptosis.
Mohammad E Abdel Fattah, Omar E Basiony, Mahmoud E Saleh, Reem A.K Dessouky   +3 more
doaj   +1 more source

Long-term outcome of strabismus and ptosis surgery in a mother and daughter with congenital fibrosis of extraocular muscles [PDF]

Vojnosanitetski Pregled, 2006
Background. Congenital fibrosis of extraocular muscles (CFEOM) is a very rare congenital condition, characterized by variable amounts of restriction of the extraocular muscles, with or without ptosis.
Zdravković Ivana, Vlajković Gordana, Stojković Milenko, Stanković Branislav, Risović Dušica   +4 more
doaj   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

Ptosis: Evaluation and management

Kerala Journal of Ophthalmology, 2019
Blepharoptosis, or ptosis of the eyelid, refers to drooping of the upper eyelid that usually results from a congenital or acquired abnormality of the muscles that elevate the eyelid.
Marian Pauly, R Sruthi
doaj   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Managing Marcus Gunn Ptosis - Our Approach

Delhi Journal of Ophthalmology, 2017
Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
doaj   +1 more source

Urinary Dysfunction in Myasthenic Syndromes: A Scoping Review of Clinical Features and Treatment‐Related Associations

Muscle &Nerve, EarlyView.
ABSTRACT Urinary dysfunction has been reported in association with myasthenic syndromes, including myasthenia gravis (MG), Lambert–Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS), but evidence regarding its prevalence, clinical impact, pathophysiology, and management remains limited.
Julia M. Augustin, Lillith Horstkorte, Hellen Schmidt, Blanca G. Sánchez Navarro, Avan Kader, Inga Koneczny, Holly M. Nelson, Pratishtha P. Wadnerkar, Rafael Meleka Hanna, Ayşe N. Özdağ Acarlı, Piraye Oflazer, Atay Vural, Franz Blaes, Miriam L. Fichtner   +13 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Improvement in Levator Function After Anterior Levator Resection for the Treatment of Congenital Ptosis

, 2015
Purpose: To evaluate the surgical outcome of levator resection in congenital ptosis, and to assess the change in levator function (LF) after surgery, as well as its effect on surgical ...
Akal, Ali, Goncu, Tugba, Cakmak, Sevim, KARAİSMAİLOĞLU, EDA   +3 more
core   +1 more source

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source