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Pharmacological Aspects in the Management of Children and Adolescents with Prader-Willi Syndrome.
Paediatr Drugs
January 2025
Division of Endocrinology, Department of Pediatrics, University of Florida, PO Box 100296, Gainesville, FL, 32610, USA.
Prader-Willi syndrome is a rare neurodevelopmental disorder that impacts the musculoskeletal, endocrine, pulmonary, neurologic, ocular, and gastrointestinal systems. In addition, individuals with Prader-Willi syndrome have issues with cognitive development, characteristic behavioral problems, and perhaps most profoundly, appetite control. Currently, the only US Food and Drug Administration-approved therapy for Prader-Willi syndrome is growth hormone, which has been Food and Drug Administration approved for > 20 years for the treatment of growth failure in Prader-Willi syndrome.
View Article and Find Full Text PDFA rare case of steroid-resistant nephrotic syndrome complicated by Wernicke's encephalopathy.
Pediatr Nephrol
January 2025
Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, 1-6-7 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo, 6500047, Japan.
Wernicke's encephalopathy (WE) is a severe neurological condition caused by the deficiency of thiamine, which is a vitamin B1 molecule. Herein, we present the case of a 3-year-old girl with steroid-resistant nephrotic syndrome (SRNS) who did not achieve remission despite steroid pulse therapy (MPT) and rituximab. She had frequent vomiting and decreased oral intake on the 61st day.
View Article and Find Full Text PDFDiffusion tensor imaging features of white matter pathways in the brain after COVID-19 infection.
Radiologie (Heidelb)
January 2025
Department of Radiology, Bezmialem Vakıf University, Istanbul, Turkey.
Purpose: To determine whether there is a difference in apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values in white matter pathways in the subacute period after COVID-19 infection and to evaluate the correlation between diffusion tensor imaging (DTI) metrics and laboratory findings.
Material And Methods: The study included 64 healthy controls and 91 patients. Patients were classified as group 1 (all patients, n = 91), group 2 (outpatients, n = 58), or group 3 (inpatients, n = 33).
Challenges in Rehabilitation of a Tetanus Patient With Severe Complications.
Cureus
December 2024
Department of Rehabilitation Medicine, School of Medicine, Showa University, Tokyo, JPN.
Tetanus is a rare but life-threatening neurological disorder caused by neurotoxins produced by . Although mortality rates have significantly decreased with modern intensive care, severe cases remain challenging due to prolonged Intensive Care Unit (ICU) stays, complications, and rehabilitation barriers. We report the case of an 81-year-old male with a history of hypertension and femoral neck fracture who developed severe tetanus following a contaminated forehead laceration.
View Article and Find Full Text PDFRetinal Vasculitis as a Rare Presentation of Microscopic Polyangiitis.
Cureus
December 2024
Internal Medicine, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Microscopic polyangiitis (MPA) is a rare, autoimmune, small-vessel vasculitis usually described with the presence of perinuclear antineutrophil cytoplasmic antibodies (p-ANCA). It encompasses a broad spectrum of clinical features, including fatigue, weight loss, fever, arthralgia, skin lesions, and involvement of the lungs or kidneys. Ocular manifestations, however, are extremely rare.
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