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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Orphanet J Rare Dis
September 2023
Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to systemic hyperornithinaemia, which in turn underlies progressive chorioretinal degeneration. In this study, we describe the clinical and molecular findings in a cohort of individuals with gyrate atrophy.
View Article and Find Full Text PDFAnalysis of Clinical Prognosis of Totally Deaf Idiopathic Sudden Sensorineural Hearing Loss in Different Ages.
Altern Ther Health Med
November 2023
Objective: The purpose of this study is to analyze the clinical prognosis of idiopathic sudden sensorineural hearing loss in patients with total deafness, and to check the differences in different age groups and hearing loss degrees.
Methods: From February 2021 to January 2022, 75 patients with complete deafness and idiopathic sudden sensorineural hearing loss were analyzed retrospectively. According to different age stages, they were divided into five groups: children's group, youth group, middle-aged group, pre-senile group and elderly group, with 15 cases in each group.
Age-related cataract - Prevalence, epidemiological pattern and emerging risk factors in a cross-sectional study from Central India.
Indian J Ophthalmol
May 2023
Department of Ophthalmology, AIIMS Bhopal, Madhya Pradesh, India.
Purpose: To study the epidemiological pattern, prevalence, types, and correlates of age-related cataracts in a tertiary care center in central India.
Methods: This hospital-based single-center cross-sectional study was conducted on 2,621 patients diagnosed with cataracts for 3 years. Data pertaining to demography, socio-economic profile, cataract grading, cataract types, and associated risk factors were evaluated.
A case-control study on the driving factors of childhood brain volume loss: What pediatricians must explore.
PLoS One
January 2023
Department of Health and Biomedical Sciences, School of Life Science, Nelson Mandela- African Institution of Science and Technology, Arusha, Tanzania.
Background: The brain volume loss also known as brain atrophy is increasingly observed among children in the course of performing neuroimaging using CT scan and MRI brains. While severe forms of brain volume loss are frequently associated with neurocognitive changes due to effects on thought processing speed, reasoning and memory of children that eventually alter their general personality, most clinicians embark themselves in managing the neurological manifestations of brain atrophy in childhood and less is known regarding the offending factors responsible for developing pre-senile brain atrophy. It was therefore the goal of this study to explore the factors that drive the occurrence of childhood brain volume under the guidance of brain CT scan quantitative evaluation.
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