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The evolving concepts of KS-WNK1 effect on NCC activity.
Am J Physiol Renal Physiol
December 2024
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, 14080 Mexico.
The field of the with no lysine kinases (WNKs) regulation of the thiazide-sensitive NaCl cotransporter (NCC) began at the start of the century with the discovery that mutations in two members of the family, WNK1 and WNK4, resulted in a condition known as Familiar Hyperkalemic Hypertension (FHHt). Since FHHt is the mirror image of Gitelman's syndrome that is caused by inactivating mutations of the SLC12A3 gene encoding NCC, it was expected that WNKs modulated NCC activity and that the increased function of the cotransporter is the pathophysiological mechanism of FFHt. This turned out to be the case.
View Article and Find Full Text PDFChronic Complications of Diabetes Mellitus.
West Afr J Med
August 2024
Iwosan-Lagoon Hospital, 17 Bourdilon Road. Ikoyi. Lagos State. Nigeria.
Background: This review article describes the chronic complications of diabetes mellitus (DM). The chronic complications of DM are diverse, often progressive and difficult to manage or reverse.
Objective: The aim of this review is to highlight the current concepts in the pathogenic mechanisms of the chronic complications of diabetes mellitus, with a view to educate doctors and specialists on the management of these problems.
Case report: Long-term response to a combination of immune checkpoint inhibitors as a single treatment for multiple synchronous cancers: a case study.
Front Immunol
December 2024
Medical Oncology, Institut de Cancérologie Strasbourg Europe (ICANS), Strasbourg, France.
Introduction: Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy by enhancing the antitumor immune response. This case describes an 80-year-old male with synchronous multiple primary malignancies (MPMs), including lung metastatic hepatocellular carcinoma (HCC), and non-small cell lung carcinoma (NSCLC), and brain metastatic urothelial carcinoma, who was treated with dual ICI therapy.
Case Presentation: The patient, with a history of diabetes, hypertension, dyslipidaemia, well-differentiated neuroendocrine duodenal tumors and micronodular exogenous cirrhosis (Child-Pugh class A), presented with a non-invasive bladder carcinoma (pT1N0M0) resected endoscopically in December 2022.
Case report: A 51-year-old diabetic patient with primary bilateral macronodular adrenal hyperplasia and primary hyperparathyroidism.
Front Endocrinol (Lausanne)
December 2024
Department of Endocrinology, Chengdu Second People's Hospital, Chengdu, China.
A 51-year-old female patient with diabetes mellitus and hypertension, exhibiting poor control of blood sugar and blood pressure, was unexpectedly found to have multiple large adrenal nodules, excessive cortisol secretion, and adrenocorticotropic hormone inhibition. Cortisol levels remained unresponsive to both low-dose and high-dose dexamethasone tests, leading to a diagnosis of primary bilateral macronodular adrenal hyperplasia. Concurrently, elevated blood calcium and parathyroid hormone levels, along with 99mTc-methoxyisobutyl isonitrile (99mTc-MIBI) imaging revealing increased 99mTc-MIBI uptake in the right inferior parathyroid gland, suggest the consideration of primary hyperparathyroidism.
View Article and Find Full Text PDFVIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
Orphanet J Rare Dis
December 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.
Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.
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