Results 61 to 70 of about 1,619,173 (297)
Eye Anomalies and Ocular Motor Disorders in the Oral-facial-digital Syndrome Type-ii
, 1987 A three-year-old girl is described showing the major features of the oral-facial-digital syndrome type II (OFD II) or Mohr syndrome. She had colobomatous deformities of the eye fundus and strabismus.
Lepolain, D. +5 more
core +1 more source
Pattern of ocular manifestations in Egyptian infants with cholestatic disorders
Journal of the Egyptian Ophthalmological Society, 2016 Background Neonatal and infantile cholestasis can be associated with ocular findings that might aid in the diagnosis of diseases such as Alagille syndrome (AGS) and Niemann–Pick disease (NPD).
Dalia H Khalil +4 more
doaj +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Cerebral Visual Impairment and Dysgenesis of Corpus Callosum in Multidisabled Children Aged 1 to 9 Years Old [PDF]
Applied Medical Informatics, 2009 Aims: To emphasize the functional vision characteristics in visually impaired multiple disabled children (MDVI) aged 2 to 9 years old related to brain damages on magnetic resonance imaging in different cortical and subcortical areas and in the corpus ...
Roxana CZIKER +5 more
doaj
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source
Common Errors in Dx and Management of Pediatric Motility Disorders
, 2009 Neuro-ophthalmologists are widely skilled in diagnosing and managing a large range of ocular motility disorders. However, the same disorders in children as opposed to adults are characterized by significantly different etiologies and clinical management ...
R. Michael Siatkowski, MD
core
Prevalence of visual dysfunction and ocular motility disorders in developmentally delayed patients. [PDF]
Pak J Med Sci, 2023 Ch MA +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
A week in neuro-ophthalmology: the Singapore scene
Philippine Journal of Ophthalmology, 2010 Objective: To report the frequency of neuro-ophthalmologic cases seen over one working week by a senior neuro-ophthalmologist in Singapore and to determine a pattern in the incidence of neuro-ophthalmic diseases.
Karen B. Reyes, MD +1 more
doaj