Results 71 to 80 of about 70,756 (309)

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

open access: yesFrontiers in Genetics, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis ...
Muhammad Imran Naseer   +13 more
doaj   +1 more source

Cleavage of the apoptosis inhibitor DIAP1 by the apical caspase DRONC in both normal and apoptotic drosophila cells [PDF]

open access: yes, 2005
In Drosophila S2 cells, the apical caspase DRONC undergoes a low level of spontaneous autoprocessing. Unintended apoptosis is prevented by the inhibitor of apoptosis DIAP1, which targets the processed form of DRONC for degradation through its E3 ...
Clem, Rollie J.   +2 more
core   +1 more source

Low Dose Pegylated Interferon Alpha as a First‐Line Treatment for Necrobiotic Xanthogranuloma

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Necrobiotic xanthogranuloma (NXG) is a rare, progressive granulomatous disorder frequently associated with monoclonal gammopathy, particularly monoclonal gammopathy of undetermined significance (MGUS). It typically presents with indurated to ulcerative yellowish plaques or nodules, often with ocular involvement.
Ishana Dixit   +2 more
wiley   +1 more source

Ptosis after glaucoma surgery

open access: yesClinical Ophthalmology, 2017
Abraham J Park,1 Babak Eliassi-Rad,2 Manishi A Desai2 1Moyes Eye Center, Department of Ophthalmology, 2Boston Medical Center, Department of Ophthalmology, Boston, MA, USA Purpose: Evaluate factors contributing to ptosis after glaucoma surgery. Methods:
Park AJ, Eliassi-Rad B, Desai MA
doaj  

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

open access: yes, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal   +18 more
core   +1 more source

A CASE OF CHRONIC SPHENOIDITIS WITH NEUROLOGIC AND OPHTHALMOLOGIC COMPLICATIONS

open access: yesРусский журнал детской неврологии, 2015
A case of chronic sphenoidal sinusitis in a girl of 9 years old is proposed; in clinical picture oculomotor dysfunction occurred (ptosis, strabismus divergent, diplopia, epiphora).
M. Yu. Bobylova   +4 more
doaj   +1 more source

Vitamin C inhibits endothelial cell apoptosis in congestive heart failure [PDF]

open access: yes, 2007
Background - Proinflammatory cytokines like tumor necrosis factor- and oxidative stress induce apoptotic cell death in endothelial cells (ECs). Systemic inflammation and increased oxidative stress in congestive heart failure (CHF) coincide with enhanced ...
Aicher, A   +9 more
core   +1 more source

Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare   +13 more
wiley   +1 more source

Trigemino-oculomotor synkinesis: Report of a rare case

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2014
Trigeminal-oculomotor synkinesis also known as the Marcus Gunn jaw winking phenomenon was first described by the ophthalmologist, Marcus Gunn, in 1883.
Manjiri Joshi   +2 more
doaj   +1 more source

Cluster headache in Greece: an observational clinical and demographic study of 302 patients. [PDF]

open access: yes, 2016
BackgroundCluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people.
Rapoport, Alan M, Vikelis, Michail
core   +1 more source

Home - About - Disclaimer - Privacy