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Pak J Pharm Sci
March 2025
Department of Nephrology, People's Hospital of Shangrao City, Shangrao, Jiangxi Province, China.
Myeloma nephropathy is a rare but challenging disease. This study aimed to evaluate the efficacy and renal functional outcomes of the VAD chemotherapy regimen and thalidomide treatment for myeloma nephropathy. From August 2022 to December 2023, a total of 94 patients were admitted to People's Hospital of Shangrao City.
View Article and Find Full Text PDFDisorders of sex development (DSD) represent a group of congenital conditions in which there is a discrepancy between the chromosomal and (or) gonadal sex and the structure of the genitals. Within the DSD there is a subgroup of 46,XX testicular DSD (46,XX TDSD), which may be caused by the translocation of the SRY gene, and more rarely - due to other causes (SRY-negative forms). In this report, we present an observation of a patient with SRY-negative 46,XX TDSD, in whom the condition was initially regarded as a virile form of congenital adrenal hyperplasia, then as idiopathic intrauterine virilization in a girl.
View Article and Find Full Text PDFTopical diagnosis can be severely complicated in patients with primary hyperparathyroidism (PHPT) due to the ectopic placement of parathyroid gland (PTG) formations. We report a clinical case of PHPT in an 84-year-old patient caused by ectopic PTG adenoma located behind the right internal jugular vein at the level of the right submandibular gland. The impossibility of surgery for a long time due to the absence of a topical diagnosis has necessitated conservative treatment was required to get the hypercalcemia under control.
View Article and Find Full Text PDFAdv Sci (Weinh)
March 2025
Department of Oto-Rhino-Laryngology, West China Hospital of Sichuan University, Chengdu, 610000, China.
Effective research and clinical application in audiology and hearing loss (HL) require the integration of diverse data, yet the absence of a dedicated database impedes understanding and insight extraction in HL. To address this, the Genetic Deafness Commons (GDC) is developed by consolidating extensive genetic and genomic data from 51 public databases and the Chinese Deafness Genetics Consortium. This repository comprises 5 983 613 variants across 201 HL genes, revealing the genetic landscape of HL and identifying six novel mutational hotspots within the DNA-binding domains of transcription factors.
View Article and Find Full Text PDFAm J Case Rep
March 2025
Department of Orthopedic Surgery, Ajou University School of Medicine, Suwon, South Korea.
BACKGROUND Arthroscopic surgery is esteemed for its arthroscopic lateral ligament repair to treating ankle ligament injuries, characterized by a low complication rate. Nevertheless, rare complications such as pseudoaneurysms require careful monitoring and a strategic approach to management during the postoperative follow-up period. This case report details a 42-year-old man with chronic instability in his left ankle.
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