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Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFHorizontal Gaze Tolerance and Its Effects on Visual Sensitivity in Glaucoma.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, Saitama Medical University, Saitama, Japan.
Purpose: This study evaluates the effect of 6° horizontal gaze tolerance on visual field mean sensitivity (MS) in patients with glaucoma using a binocular head-mounted automated perimeter, following findings of structural changes in the posterior globe from magnetic resonance imaging and optical coherence tomography.
Methods: In this cross-sectional study, a total of 161 eyes (85 primary open-angle glaucoma [POAG] and 76 healthy) from 117 participants were included. Logistic regression and 1:1 matched analysis assessed the propensity score for glaucoma and healthy eyes, considering age, sex, and axial length as confounders.
Distinct Ocular Surface Microbiome in Keratoconus Patients Correlate With Local Immune Dysregulation.
Invest Ophthalmol Vis Sci
January 2025
GROW Research Laboratory, Narayana Netralaya Foundation, Bangalore, India.
Purpose: Keratoconus (KC) is characterized by irregular astigmatism along with corneal stromal weakness and is associated with altered immune status. Tissue resident microbiomes are known to influence the immune status in other organs, but such a nexus has not been described in ocular conditions. Therefore, we examined the ocular surface microbiome of patients with KC and correlated it to the immune cell and tear molecular factor profiles.
View Article and Find Full Text PDFCiliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.
Semin Ophthalmol
January 2025
Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.
Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.
A bibliometric and visualization analysis of electrochemical biosensors for early diagnosis of eye diseases.
Front Med (Lausanne)
January 2025
Department of Anatomy and Neurobiology, School of Basic Medical Sciences, Central South University, Changsha, China.
Electrochemical biosensors can provide an economical, accurate and rapid method for early screening of disease biomarkers in clinical medicine due to their high sensitivity, selectivity, portability, low cost and easy manufacturing, and multiplexing capability. Tear, a fluid naturally secreted by the human body, is not only easily accessible but also contains a great deal of biological information. However, no bibliometric studies focus on applying electrochemical sensors in tear/eye diseases.
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