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Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Exploring the Pharmacokinetics and Gut Microbiota Modulation of Hesperidin and Nobiletin from Mandarin Orange Peel in Experimental Dogs: A Pilot Study.
Metabolites
December 2024
School of Veterinary Medicine, Kitasato University, 35-1, Higashi 23, Towada 034-8628, Aomori, Japan.
Mandarin orange peel (MOP) is recognized for its traditional medicinal properties due to its high flavonoid content. This study aimed to analyze MOP harvested in Japan for specific bioactive compounds and to explore its health applications in dogs, including effects on gut microbiota and cognitive symptoms. Flavonoid content (particularly hesperidin and nobiletin) of MOP was measured.
View Article and Find Full Text PDFGlobal burden of heart failure in children and adolescents from 1990 to 2019: an analysis from the Global Burden of Disease Study 2019.
World J Pediatr
January 2025
Cardiac Arrhythmia Center, National Center for Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 Beilishi Road, Xicheng District, Beijing, 100037, China.
Background: Heart failure (HF) significantly impacts the cardiovascular health of children and adolescents. This study aims to assess epidemiologic trends in HF across sex, age, region, and time period.
Methods: The number and age-standardized rate (ASR) of prevalence and years lived with disability (YLDs) were derived from the Global Burden of Disease Study 2019.
Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFPseudohaematuria Due to Mesalazine: A Case Report.
Nephrology (Carlton)
January 2025
School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
The symptom of macroscopic or 'visible' haematuria can cause significant patient distress, largely due to its' potential association with urinary tract malignancy, infection or glomerular disease. This lesson from practice describes the case of a 19-year-old female patient for whom the cause of red/brown urinary discolouration was found to relate to a reaction between renally excreted mesalazine and domestic bleach in the toilet bowel. Recognition of this phenomenon in patients taking mesalazine for inflammatory colitis is important to minimise patient distress and unnecessary investigation for a urinary tract cause.
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