Results 121 to 130 of about 94,750 (283)
Test and evaluation of the 2.4-micron photorefractor ocular screening system [PDF]
An improved 2.4-m photorefractor ocular screening system was tested and evaluated. The photorefractor system works on the principal of obtaining a colored photograph of both human eyes; and, by analysis of the retinal reflex images, certain ocular ...
Richardson, J. R.
core +1 more source
Use of the Neurological Pupil Index to Predict Postoperative Visual Function After Resection of a Tuberculum Sellae Meningioma: A Case Report. [PDF]
, 2019 The Neurological Pupil index (NPi) is a standardized method for evaluating pupil reactivity that removes inter-examiner variability. Changes in the NPi can predict clinical deterioration in patients with traumatic brain injury (TBI); however, its use to ...
Raygor, Kunal P +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
Biomarkers of Preclinical Diabetic Retinopathy Detected by OCT Angiography—A Descriptive Review
LifeBackground: Diabetic retinopathy (DR) is a leading cause of vision loss worldwide. Microvascular changes precede clinically detectable DR, creating an opportunity for early diagnosis and intervention.
Ilona Strauss, Maciej Gawęcki
doaj +1 more source
The Anatomical Record, EarlyView.Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley +1 more source
A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus
Arthritis &Rheumatology, EarlyView.Objective Patients with features of systemic lupus erythematosus (SLE) who do not fulfill classification criteria can be designated as incomplete lupus erythematosus (ILE). This condition includes individuals with a high risk of progression to SLE. Treatment of ILE may reduce symptoms, severity, and incidence of SLE.
Nancy J. Olsen +14 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in juvenile idiopathic arthritis–associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheumatology and ophthalmology units at Florence, Italy ...
Ilaria Maccora +5 more
wiley +1 more source