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Alström syndrome: the journey to diagnosis.
Orphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
View Article and Find Full Text PDFRehabilitation outcomes after comprehensive post-acute inpatient rehabilitation following moderate to severe acquired brain injury-study protocol for an overall prognosis study based on routinely collected health data.
Diagn Progn Res
January 2025
Department of Clinical Medicine, Hammel Neurorehabilitation Centre-University Research Clinic, Aarhus University, Voldbyvej 15, 8450, Hammel, Denmark.
Background: The initial theme of the PROGRESS framework for prognosis research is termed overall prognosis research. Its aim is to describe the most likely course of health conditions in the context of current care. These average group-level prognoses may be used to inform patients, health policies, trial designs, or further prognosis research.
View Article and Find Full Text PDFProgression of the faecal microbiome in preweaning dairy calves that develop cryptosporidiosis.
Anim Microbiome
January 2025
School of Pharmacy and Life Sciences, Robert Gordon University, Garthdee Road, Aberdeen, AB10 7GJ, UK.
Background: Cryptosporidiosis is a diarrheal disease that commonly affects calves under 6 weeks old. The causative agent, Cryptosporidium parvum, has been associated with the abundance of specific taxa in the faecal microbiome during active infection. However, the long-term impact of these microbiome shifts, and potential effects on calf growth and health have not yet been explored in depth.
View Article and Find Full Text PDFCharacterization of Incident Hepatitis C Virus Infection among People Living with HIV in a HIV Clinic in Korea.
Infect Chemother
December 2024
Division of Gastroenterology and Hepatology, Department of Internal Medicine, National Medical Center, Seoul, Korea.
Background: Coinfection with human immunodeficiency virus (HIV) and hepatitis C virus (HCV) can cause more rapid progression to cirrhosis than HCV-monoinfection. In this study, incident HCV case (IHCV)s were investigated in a HIV clinic in Korea.
Materials And Methods: A retrospective HIV cohort was constructed who visited National Medical Center in Korea from 2013 to 2022 and performed ≥ 1 anti-HCV antibody tests (anti-HCV) during the study period.
Utilizing liquid-liquid biopolymer regulators to predict the prognosis and drug sensitivity of hepatocellular carcinoma.
Biol Direct
January 2025
Center of Infectious Diseases, West China Hospital of Sichuan University, Chengdu, 610041, China.
Background: Liquid-liquid phase separation (LLPS) is essential for the formation of membraneless organelles and significantly influences cellular compartmentalization, chromatin remodeling, and gene regulation. Previous research has highlighted the critical function of liquid-liquid biopolymers in the development of hepatocellular carcinoma (HCC).
Methods: This study conducted a comprehensive review of 3,685 liquid-liquid biopolymer regulators, leading to the development of a LLPS related Prognostic Risk Score (LPRS) for HCC through bootstrap-based univariate Cox, Random Survival Forest (RSF), and LASSO analyses.
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