Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?

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Source: Neuro-Ophthalmology - Category: Opthalmology Authors: Source Type: research

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Endocrine Practice, Ahead of Print.
Source: Endocrine Practice - Category: Endocrinology Authors: Source Type: research
Endocrine Practice, Ahead of Print.
Source: Endocrine Practice - Category: Endocrinology Authors: Source Type: research
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed ...
Source: Pathology Case Reviews - Category: Pathology Tags: Case Reviews Source Type: research
ConclusionsGrowth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CIS...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. To date, the economic burden of W...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Wolfram syndrome (WS), a rare genetic disorder, is considered the best prototype of endoplasmic reticulum (ER) diseases. Classical WS features are childhood-onset diabetes mellitus, optic atrophy, deafness, di...
Source: Journal of Translational Medicine - Category: Research Authors: Tags: Review Source Type: research
This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines. PMID: 31338833 [PubMed - as supplied by publisher]
Source: Hamostaseologie - Category: Hematology Authors: Tags: Br J Haematol Source Type: research
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To da...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
In this report, we present a 4.5 year old girl diagnosed with H syndrome based on genetic investigation.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
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