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Indian J Endocrinol Metab
December 2024
Department of Endocrinology, Mahatma Gandhi Medical College and Hospital, Jaipur, Rajasthan, India.
Introduction: Corticotropin releasing hormone (CRH)-stimulated bilateral inferior petrosal sinus sampling (BIPSS) is the most accurate procedure in the differential diagnosis of adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS) with a sensitivity of 88-100% and a specificity of 67-100%. However, CRH is not available globally currently. We undertook this study of BIPSS using lysine vasopressin (LVP) as an agent to stimulate the release of ACTH from corticotrophs.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Obstetrics and gynaecology, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Labial adhesion in a reproductive-age woman is a rare entity. A woman in her 30s presented with complaints of passage of urine and menstrual blood from the same opening since menarche. The patient underwent some corrective surgery for the same, but the symptoms did not resolve.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Radiodiagnosis Department, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Postseizure brain changes on imaging are well-known facts. Many times, oedematous brain changes can mimic ischaemic stroke. Crossed cerebellar diaschisis refers to a depression in metabolism, affecting the cerebellar hemisphere due to contralateral supratentorial abnormalities.
View Article and Find Full Text PDFItal J Pediatr
January 2025
Pediatrics Department, Genetics Unit, Mansoura University, Mansoura, Egypt.
Background: Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.
Methods: The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations.
BMJ Case Rep
January 2025
Radiodiagnosis, AIIMS Nagpur, Nagpur, Maharashtra, India.
A boy in his middle childhood presented with a gradually enlarging, mildly tender swelling in the left frontal region, noticed after minor trauma. Skull radiograph and non-enhanced CT revealed a diffuse sclerotic lesion involving the left frontal bone and overlying subcutaneous soft tissue, suggestive of an intraosseous haemangioma. Contrast-enhanced MRI showed an expansile, hypointense lesion in the frontal bone on the left side with enhancing extraosseous components and a small extra-axial cyst.
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