The study of rare diseases in both academic and industry settings yields new knowledge about human pathophysiology and ultimately helps patients.
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Diffusion tensor imaging features of white matter pathways in the brain after COVID-19 infection.
Radiologie (Heidelb)
January 2025
Department of Radiology, Bezmialem Vakıf University, Istanbul, Turkey.
Purpose: To determine whether there is a difference in apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values in white matter pathways in the subacute period after COVID-19 infection and to evaluate the correlation between diffusion tensor imaging (DTI) metrics and laboratory findings.
Material And Methods: The study included 64 healthy controls and 91 patients. Patients were classified as group 1 (all patients, n = 91), group 2 (outpatients, n = 58), or group 3 (inpatients, n = 33).
Glucose Metabolic Abnormalities and Their Interaction With Defective Phosphate Homeostasis in Tumor-induced Osteomalacia.
J Clin Endocrinol Metab
January 2025
Department of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Dongcheng District, National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Context: Phosphate homeostasis was compromised in tumor-induced osteomalacia (TIO) due to increased fibroblast growth factor 23 (FGF23) secretion. Nevertheless, the glucose metabolic profile in TIO patients has not been investigated.
Objectives: This work aimed to clarify the glucose metabolic profiles in TIO patients and explore their interaction with impaired phosphate homeostasis.
Genetic diversity and virulence of group isolates from bloodstream infections.
Microbiol Spectr
January 2025
Department of Veterinary Science, National Institute of Infectious Diseases, Tokyo, Japan.
catheter-related bloodstream infections (CRBSIs) are an increasing concern in Japanese hospitals. Although their clinical characteristics have been explored, the genetic relationships and virulence profiles of isolates from CRBSIs remain understudied. Here, using advanced genomic techniques, we investigated the genetic diversity, phylogenetic relationships, and virulence profiles of isolates from patients with bloodstream infections.
View Article and Find Full Text PDFA Rare Case of Anomalous Pulmonary Venous Return.
Echocardiography
January 2025
Department of Ultrasound, Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology, Wuhan Clinical Medical Research Center of Cardiovascular Imaging, Wuhan, China.
This manuscript presents a rare case of a complex pulmonary venous malposition with an intact atrial septum and ventricular septum. The study demonstrates the diagnostic utility of echocardiography and computed tomography in the evaluation of complex congenital heart disease.
View Article and Find Full Text PDFIvory Vertebra Phenomenon as a Sign of Metastatic Dissemination in Pancreatobiliary Neoplasia: A Case Report and Literature Review.
Cureus
January 2025
Internal Medicine, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, PRT.
The bone tissue is a specialised connective tissue composed of several components that undergo constant remodelling. The balance between bone deposition and resorption is essential for maintaining a healthy bone structure. In case of a disruption in this remodelling process, which can lead to an imbalance between bone deposition and resorption, an increase in the opacity of a vertebral body may be observed in imaging studies, resulting in what is known as the "ivory vertebra sign".
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