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J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Dermatology, Venereology & Leprosy, Shri BM Patil Medical College, Bijapur, India
Pharmaceuticals (Basel)
December 2024
Laboratory of Molecular Pharmacology and Bioactive Compounds, Postgraduate Program in Health Sciences, São Francisco University, 215 São Francisco de Assis Avenue, Bragança Paulista 12916-900, São Paulo, Brazil.
Treating chronic wounds incurs substantial costs for Brazil's Unified Health System. Natural compounds, particularly propolis, are increasingly explored as low-cost alternatives due to their healing properties. Brazilian green propolis, distinct in its chemical composition, has garnered scientific interest.
View Article and Find Full Text PDFBMJ Open
December 2024
Infectious Diseases Institute, Makerere University College of Health Sciences, Kampala, Central, Uganda.
Introduction: Tuberculosis (TB) is the leading infectious cause of death globally. Despite WHO recommendations for TB preventive therapy (TPT), challenges persist, including incompletion of treatment and adverse drug reactions (ADRs). There is limited data on the 3-month isoniazid and rifapentine (3HP) pharmacokinetics, pharmacogenomics and their relation with ADRs.
View Article and Find Full Text PDFPediatr Dermatol
December 2024
Paediatric Endocrinology Division, Department of Paediatrics, Christian Medical College Vellore, Vellore, Tamil Nadu, India.
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.
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