Perplexing Polyuria Caused by a Rare Disorder
نویسندگان
چکیده
منابع مشابه
Hearing loss: a common disorder caused by many rare alleles.
Perception of sound is a fundamental role of the auditory system. Traveling with the force of their mechanical energy, sound waves are captured by the ear and activate the sensory pathway of this complex organ. The hair cells, specialized sensory cells within the inner ear, transmit the mechanical energy into electrical nerve stimuli that reach the brain. A large number of proteins are responsi...
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s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany 16-17 April 2015 This supplement has not been sponsored. Meeting abstracts Meeting abstract Singleton-Merten Syndrome (SMS) is a rare autosomal-dominant disorder characterized by a variety of symptoms including extreme calcifications of the ascending aorta and cardiac valves, dental anomalies (...
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To cite: Ranpara MP, Yesudian PD. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211792 DESCRIPTION A 69-year-old woman presented to the emergency department with a painful rash of 5 weeks duration. The rash started as two discrete erythematous plaques on the left medial malleolus and was treated as cellulitis by her general practitioner. Despite antibiotic t...
متن کاملFungal keratitis caused by rare organisms
Purpose To report two rare cases of filamentous fungal keratitis. Methods Two non-consecutive patients presented with suspicious fungal keratitis. After performing the smear and culture, medical therapy was started for them. They underwent slit photography and in vivo confocal microscopy (IVCM) in their follow-up visits. Results The patients were 33-year-old and 56-year-old farmer men. They...
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Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab048.1218