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Sarcopenic obesity and brain health: A critical appraisal of the current evidence.
Nutr Bull
January 2025
Curtin School of Population Health, Faculty of Health Sciences, Curtin University, Bentley, WA, Australia.
Sarcopenic obesity (SO) is a body composition phenotype derived from the simultaneous presence in the same individual of an increase in fat mass and a decrease in skeletal muscle mass and/or function. Several protocols for the diagnosis of SO have been proposed in the last two decades making prevalence and disease risk estimates of SO heterogeneous and challenging to interpret. Dementia is a complex neurological disorder that significantly impacts patients, carers and healthcare systems.
View Article and Find Full Text PDFEvaluation of polygenic risk scores for hormones and receptors levels in patients with vestibulodynia: a case-control study.
J Sex Med
January 2025
Clinical Obstetric and Gynecological V Buzzi, ASST-FBF-Sacco, Via Castelvetro 24-20124-University of the Study of Milan, Milan, Italy.
Background: Vulvodynia is a multifactorial disease affecting 7%-16% of reproductive-aged women in general population; however, little is still known about the genetics underlying this complex disease.
Aim: To compare polygenic risk scores for hormones and receptors levels in a case-control study to investigate their role in vulvodynia and their correlation with clinical phenotypes.
Methods: Our case-control study included patients with vestibulodynia (VBD) and healthy women.
Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
Am J Case Rep
January 2025
Research Institute of Dentistry, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands.
View Article and Find Full Text PDFDeveloping a decision support tool to predict delayed discharge from hospitals using machine learning.
BMC Health Serv Res
January 2025
Department of Industrial Engineering, Dalhousie University, PO Box 15000, Halifax, B3H 4R2, NS, Canada.
Background: The growing demand for healthcare services challenges patient flow management in health systems. Alternative Level of Care (ALC) patients who no longer need acute care yet face discharge barriers contribute to prolonged stays and hospital overcrowding. Predicting these patients at admission allows for better resource planning, reducing bottlenecks, and improving flow.
View Article and Find Full Text PDFEnhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Orphanet J Rare Dis
January 2025
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.
Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.
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