Results 11 to 20 of about 4,210 (197)

Endotype-Phenotype Patterns in Meniere's Disease Based on Gadolinium-Enhanced MRI of the Vestibular Aqueduct

open access: yesFrontiers in Neurology, 2019
Two histopathological subtypes of Meniere's disease (MD) were recently described in a human post-mortem pathology study. The first subtype demonstrated a degenerating distal endolymphatic sac (ES) in the affected inner ear (subtype MD-dg); the second ...
David Bächinger   +11 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Abductor digiti minimi opponensplasty for a patient with Cavanagh’s syndrome: A case report [PDF]

open access: yesReviews in Clinical Medicine, 2018
Thumb hypoplasia only in the intrinsic thenar muscles is a rare condition; this defect might be accompanied with cardiac diseases (Holt-Oram syndrome), ocular anomalies, and vascular anomalies of the hand and wrist (Okihiro syndrome).
Ali Parsa   +4 more
doaj   +1 more source

Unilateral pulmonary vein atresia: Difficulties of radiological diagnosis [PDF]

open access: yesDigital Diagnostics
Pulmonary vein atresia is a rare congenital abnormality that could manifest in isolation or in association with other congenital abnormalities in the cardiovascular system such as pulmonary vein hypoplasia.
Veronika V. Zharikova   +3 more
doaj   +1 more source

A Comprehensive Study of the Anatomical Variations of the Circle of Willis in Adult Human Brains [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2013
Background: Cerebrovascular diseases such as stroke, aneurysms and arterio-venous malformations are very much prevalent in our country. Circle of Willis, as an anastomotic polygon at the base of the brain forms an important collateral network to ...
S. Iqbal
doaj   +1 more source

Massive Amniotic Fluid Aspiration in a Case of Sudden Neonatal Death With Severe Hypoplasia of the Retrotrapezoid/Parafacial Respiratory Group

open access: yesFrontiers in Pediatrics, 2019
We report a case of a baby, who, after pregnancy complicated by maternal Addison's disease and Hashimoto's thyroiditis and natural delivery, unexpectedly presented a cardiorespiratory collapse and died 1 hour after birth without responding to prolonged ...
Anna M. Lavezzi   +8 more
doaj   +1 more source

The silent sinus syndrome

open access: yesDental Research Journal, 2013
The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including ...
Mahnaz Sheikhi, Faranak Jalalian
doaj   +1 more source

The human brain arterial circle variants and integrated classification of individual-typological variability

open access: yesСеченовский вестник, 2018
Objective. The variability of the design of the arterial circle of the human brain (ACHB) has been studied.Materials and methods. The systematization was carried out and the original classification of the variants of ACHB was compiled.
V. N. Nikolenko   +4 more
doaj   +1 more source

Isolated distal vaginal hypoplasia and megalourethra in a regularly menstruating female treated by pull through procedure [PDF]

open access: yesJournal of Medicine and Life Science, 2022
This case report describes a case of isolated (not associated with other anomalies) lower vaginal hypoplasia complicated by megalourethra (urethral dilatation) due to frequent urethral sexual intercourse in a regularly menstruating (hypomenorrheic) woman.
Atef M. M. Darwish   +2 more
doaj   +1 more source

Cerebellar Atrophy in Leukemia Survivors

open access: yesPediatric Neurology Briefs, 1994
MRI changes in the cerebellum and cognitive function of 13 survivors of childhood acute lymphoblastic leukemia (ALL) treated with cranial radiation of 24 Gy and intrathecal methotrexate were studied at the University of New Mexico, Albuquerque, Manitoba ...
J Gordon Millichap
doaj   +1 more source

Home - About - Disclaimer - Privacy