Results 121 to 130 of about 89,450 (348)
Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency
Movement Disorders Clinical Practice, EarlyView.
Claudio M. de Gusmao +4 more
wiley +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
Eyelid malpositions: An overview
Kerala Journal of Ophthalmology, 2017 Eyelid malpositions are the result of forces acting upon the eyelid margin. A normal eyelid should have a quick return snap to the eyeball. Frequently, tendon laxity at the medial and lateral canthi will render the eyelid margin unstable making it ...
Marian Pauly, T J Maya
doaj +1 more source
Australian and New Zealand Journal of Ophthalmology, 1986 AbstractInvolutional ptosis was corrected by either an anterior or posterior approach in 105 eyelids The posterior approach was preferred unless there was a specific indication for the anterior approach which included excess skin and bulky eyelids At operation approximately 10% of cases were found to have fatty degenerative changes in the anterior part
openaire +2 more sources
Clinical Genetics, EarlyView.The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc +5 more
wiley +1 more source
Surgical management of concomitant ptosis and cicatricial entropion in a patient with ocular cicatricial pemphigoid [PDF]
, 2015 Purpose: To report on the surgical management of concurrent ptosis and entropion in a patient with cicatricial pemphigoid. Case report: A 71 year-old patient presented with vision impairment and pain in the right eye due to entropion associated ...
Lambiase, Alessandro +3 more
core +1 more source
Epilepsia, Volume 66, Issue 3, Page 662-673, March 2025.Abstract Objective Hypothalamic hamartomas (HHs) are associated with pharmacoresistant epilepsy. Stereotactic radiofrequency thermocoagulation (SRT) shows promise as a disconnecting intervention. Although magnetic resonance imaging (MRI) is typically used to determine the attachment and intervention side, it presents challenges in cases of bilaterally ...
Friederike Niedermoser +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
The blood ptosis test and its use in experimental work in hygiene [PDF]
, 1915 C. Ward Crampton
openalex +1 more source