Results 111 to 120 of about 65,918 (263)
Treatment of Congenital Myogenic Ptosis with Frontalis Suspension Surgery [PDF]
, 2016 Ptosis repair is a challenging oculoplastic surgical procedure that requires correct diagnosis, thoughtful planning, thorough understanding of eyelid anatomy, experience, and good surgical technique.
Erna, R. (Riani) +1 more
core +1 more source
Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
core +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Pedro Redondo
wiley +1 more source
Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Isolated unilateral ptosis as a complication of sinusitis: A case report and literature review
Clinical Case ReportsKey Clinical Message Ptosis associated with rhinosinusitis may indicate orbital or cavernous sinus involvement, typically accompanied by various other symptoms. However, isolated ptosis is a rare occurrence. This explains the diverse treatment approaches
Youssef El Sayed Ahmad +1 more
doaj +1 more source
Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review
Frontiers in MedicineKearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO).
Jiaqi Zhang +4 more
doaj +1 more source
Constitutively Active Galpha q and Galpha 13 Trigger Apoptosis through Different Pathways [PDF]
, 1997 We investigated the effect of expression of constitutively active Galpha mutants on cell survival. Transfection of constitutively active Galphaq and Galpha13 in two different cell lines caused condensation of genomic DNA and nuclear fragmentation ...
Althoefer, Henning +2 more
core
55-year-old Woman with Headache, Vomiting, and Visual Disturbance [PDF]
, 2020 Case Presentation: A 55-year-old woman with a past medical history of hypertension, hyperlipidemia, and iron deficiency anemia presented to the emergency department with three days of headache, nausea, vomiting, and visual changes.
Murano, Tiffany +2 more
core
A case of infant botulism in a 4-month-old baby [PDF]
, 2016 This case-report highlights: i) the difficulty of IB diagnosis as it is a rare syndrome with subclinical onset, ii) the need for an accurate training for physicians involved in IB management, iii) the efficacy and safety of TEqA in IB treatment, iv ...
Bruna Auricchio +6 more
core +1 more source
Development of a Smart Assistance System for Patients With Blepharoptosis
IEEE Access, 2019 Blepharoptosis is defined as an abnormal low-lying upper eyelid margin in primary gaze. Without adequate management, the disease may cause amblyopia, strabismus, and astigmatism in children as well as constriction of the upper visual field, blurred ...
Ching-Feng Lien +6 more
doaj +1 more source