Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel +8 more
core +1 more source
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source
Exploring Pembrolizumab-Induced IM3OS in a Patient With Bladder Cancer. [PDF]
ABSTRACT Pembrolizumab, an immune checkpoint inhibitor (ICI), has transformed cancer treatment across various malignancies, including metastatic urothelial cancer. As the use of pembrolizumab becomes increasingly widespread, understanding its potential adverse effects is essential.
Chan CC, Lee MJ, Su J, Su JJ.
europepmc +2 more sources
Enhanced Tissue Integration During Cartilage RepairIn VitroCan Be Achieved by Inhibiting Chondrocyte Death at the Wound Edge [PDF]
Objective: Experimental wounding of articular cartilage results in cell death at the lesion edge. The objective of this study was to investigate whether inhibition of this cell death results in enhanced integrative cartilage repair.
Archer, Charles W. +7 more
core +1 more source
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
core +3 more sources
PurposeTo determine the risk of ptosis among diabetic retinopathy (DR) patients.MethodsThis is a population-based, retrospective, matched-cohort study where DR patients were recruited from the Taiwan National Health Insurance Research Database (NHIRD) to
Chun-Ju Lin +19 more
doaj +1 more source
Clinical insights on Tolosa Hunt syndrome: a multidisciplinary approach on neurological-related symptomatology in maxillofacial region [PDF]
Background Tolosa–Hunt syndrome (THS) related neurological symptoms are described in literature as “unilateral”, “recurrent”, “episodic”, “intense”, “severe”, “lancinating” or “stabbing” pain on the upper face and forehead and may be misdiagnosed ...
Ahmed Siddiqui, Ammar +8 more
core +2 more sources
Refractive Error, Srabismus and Amblyopia in Congenital Ptosis
INTRODUCTION: Congenital ptosis is often associated with visual impairment. The aim of the study is to find out the pattern of refractive error,strabismus and amblyopia in patients with congenital ptosis in a hospital setting.
R Thapa
doaj +1 more source
Safety and patient satisfaction of abobotulinumtoxinA for aesthetic use. A systematic review [PDF]
A systematic review of the published literature (from January 2000 to January 2016) to ascertain the safety of, and patient satisfaction with, the aesthetic use of abobotulinumtoxinA was conducted.
Cohen, Joel L, Scuderi, Nicolo'
core +1 more source
Purpose: Upper eyelid ptosis has different etiologies in children and adults. In children, the common causes include orbital cellulitis, congenital ptosis, Cranial Nerve (CN) III palsy, and Horner's syndrome.
Nathan D. Wilbanks +3 more
doaj +1 more source

