The diabetes insipidus mutation is displayed in homozygotes in the form of diabetes insipidus with water consumption from 30 to 100% of body weight per day. We developed two inbred sublines of the di/di Brattleboro rats as well as the recombinant inbred subline by integrating genes of August rats into the di/di mutant genome. Changes in the genetic background proved to have no effect on the quantitative parameters of the diabetes insipidus. The intensity of the secondary immune response and the content of tropomyosin in the medulla of the rat kidney can serve as additional marker traits of the di/di genotype.
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Neurosurg Rev
December 2024
Department of Neurosurgery, Sawai Man Singh Medical College, Jaipur, Rajasthan, 302004, India.
Surgical resection of non-functioning pituitary neuroendocrine tumors (NF-PitNET) is associated with new onset hormonal axis (HA) dysfunction, and factors predicting HA dysfunction are controversial, especially in large and giant NF-PitNET. Thus, we evaluated the postoperative hormonal function and assessed factors affecting HA dysfunction in patients with NF-PitNET. This prospective observational study involved 50 patients who underwent endoscopic surgical resection of NF-PitNET in the Department of Neurosurgery (April 2023-March 2024).
View Article and Find Full Text PDFCancer Rep (Hoboken)
December 2024
Department of Hematology and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with diverse clinical manifestations, often associated with mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway. BRAF and KRAS mutations, which are driver mutations of oncogenes, participate in the same signaling pathway (MAPK/ERK pathway) and are usually mutually exclusive. We report a case of ECD with concurrent BRAF and KRAS mutations treated using BRAF and MEK inhibitors.
View Article and Find Full Text PDFCochlear Implants Int
December 2024
Department of ENT and Head & Neck Surgery, Seth GS Medical College & K.E.M. Hospital, Mumbai, India.
Introduction: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Case Report: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to progressive hearing loss. The patient first complained of bilateral hearing loss at the age of 8 years.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Paediatric pituitary adenomas are rare in children and adolescents and differ from adults in both clinical presentation and management. We present the case of a 14-year-old female with primary amenorrhoea secondary to a macroprolactinoma, showing a modest radiological and biochemical response to dopamine agonist (DA) therapy. Despite a 10-month duration of increasing DA therapy, initial symptoms of primary amenorrhoea and hyperprolactinaemia persisted, with new symptoms of weight gain, lethargy and low mood.
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