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Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFMeropenem Continuous Infusion in a Septic Patient with Periprosthetic Infection and End-Stage Renal Disease Undergoing Prolonged Intermittent Renal Replacement Therapy.
Medicina (Kaunas)
January 2025
Department of Anesthesiology and Intensive Care, Astana Medical University, Astana 010000, Kazakhstan.
This case report highlights the use of continuous infusion of meropenem in a 42-year-old septic female patient with periprosthetic infection and end-stage renal disease receiving prolonged intermittent renal replacement therapy (PIRRT). Antibiotic infusion in patients receiving renal replacement therapy has its own peculiarities. There are many studies on the optimal dosing regimen for meropenem in renal dysfunction, but studies on the optimal infusion duration in these patients are limited.
View Article and Find Full Text PDFHypercalcemia Following Adrenalectomy for Cushing Syndrome in a Patient with Post-Surgical Hypoparathyroidism.
Diseases
January 2025
Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Fondazione Policlinico "A. Gemelli" IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
Hypercalcemia is a frequently encountered laboratory finding in endocrinology, warranting accurate clinical and laboratory evaluation to identify its cause. While primary hyperparathyroidism and malignancies represent the most common causes, many other etiologies have been described, including some reports of hypercalcemia secondary to adrenal insufficiency. On the contrary, hypoparathyroidism is a relatively common cause of hypocalcemia, often arising as a complication of thyroid surgery.
View Article and Find Full Text PDFAcrocyanosis: The Least Known Acrosyndrome Revisited With a Dermatologic Perspective.
Dermatol Res Pract
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Department of Dermatology, Acıbadem University School of Medicine, İstanbul, Turkey.
Acrocyanosis is a functional peripheral vascular disorder, currently categorized under the canopy of acrosyndromes, i.e., a group of clinically similar and significantly overlapping vascular disorders involving the acral skin.
View Article and Find Full Text PDFMultinucleate cell angiohistiocytoma: a case series and literature review.
Pol J Pathol
January 2025
Department of Dermatology, Medical University of Warsaw, Warsaw, Poland.
Multinucleate cell angiohistiocytoma (MCAH) is a rare benign cutaneous entity. It classically presents as slowly progressive erythematous to violaceous papules on the distal extremities of middle-aged or elderly women. The entity may clinically resemble granuloma annulare, lichen planus, and several cutaneous vascular proliferations.
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