Results 41 to 50 of about 503,028 (314)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

open access: yes, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz   +5 more
core   +3 more sources

Congenital cytomegalovirus related intestinal malrotation: a case report [PDF]

open access: yes, 2016
Background: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in ...
Cascio, A.   +6 more
core   +2 more sources

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih   +40 more
wiley   +1 more source

Barnes Hospital Bulletin [PDF]

open access: yes, 1976
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1126/thumbnail ...

core   +1 more source

Comorbidities in aging patients with sickle cell disease. [PDF]

open access: yes, 2018
Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing ...
Ballas, Samir K.
core   +2 more sources

Clinical and surgical data of affected members of a classic CFEOM 1 family

open access: yesBMC Ophthalmology, 2003
BackgroundCongenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a
Adriano Magli   +3 more
semanticscholar   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, Accepted Article.
Objectives Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies. To help patients and providers in the decision‐making process, we developed
Anahita Deboo   +19 more
wiley   +1 more source

Disparities in the use of ambulatory surgical centers: a cross sectional study

open access: yesBMC Health Services Research, 2009
BackgroundAmbulatory surgical centers (ASCs) provide outpatient surgical services more efficiently than hospital outpatient departments, benefiting patients through lower co-payments and other expenses.
S. Strope   +4 more
semanticscholar   +1 more source

Diagnostic Utility of Testing for Novel Murine Autoantibodies for Sjögren's Disease in the Rheumatology Outpatient Setting

open access: yesArthritis Care &Research, Accepted Article.
Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren's disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr   +5 more
wiley   +1 more source

Forensic and clinical diagnosis in shaken baby syndrome , between child abuse and iatrogenic abuse [PDF]

open access: yes, 2017
“Shaken baby syndrome” in child abuse cases is a challenge for pediatrician and forensic experts, often a diagnosis of exclusion, with overwhelming moral and legal implications.
Apostol, Irina   +3 more
core   +3 more sources

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