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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFTriglyceride-independent associations between circulating levels of apolipoprotein C-III and biomarkers of inflammation.
Cardiovasc Diabetol
January 2025
Facultat de Medicina i Ciències de la Salut, Unitat de Recerca en Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Reus, Spain.
Backgrounds And Aims: Preclinical studies suggest that a triglyceride (TG)-independent proinflammatory action of apolipoprotein C-III (apoCIII) exists. We aimed to investigate the relationship between circulating apoCIII levels and subclinical inflammation markers across different cohorts with distinctive inflammatory patterns: patients with metabolic disorders (MDs), patients with rheumatoid arthritis (RA), and controls. Specifically, we assessed the associations of apoCIII with acute inflammation biomarkers (e.
View Article and Find Full Text PDFIs middle East pain syndrome (MEPS) a variant of fibromyalgia syndrome or a distinct disease?
BMC Rheumatol
January 2025
Rheumatology Department, Al-Azhar University Faculty of Medicine for Girls, 74 Ali Amin St, Nasr City, PO 11727, Cairo, Egypt.
Background: Fibromyalgia Syndrome (FMS) is a chronic disabling musculoskeletal condition of unknown aetiology characterized by generalized musculoskeletal pain, extreme fatigue, mood disturbance, impaired cognition, and lack of refreshing sleep. Middle East pain syndrome (MEPS) is a newly described pollution-induced syndrome of hyperparathyroidism and fibromyalgia mimicking rheumatoid arthritis, characterized by the radiological presence of spur-like excrescences in terminal phalanges. This study aimed to explore the inflammatory nature of Middle East pain and Fibromyalgia syndromes.
View Article and Find Full Text PDFUnder-nutrition and its associated factors among adult second-line antiretroviral treatment users in Northern Ethiopia.
BMC Public Health
January 2025
Department of Public Health, Woldia University, Woldia, Ethiopia.
Background: Despite advancements in Human Immunodeficiency Virus (HIV) treatment and care, undernutrition remains a significant concern, accelerating disease progression and risk of Acquired Immune Deficiency Syndrome (AIDS)-related deaths. The nutritional status of second-line antiretroviral treatment (SLART) users in Ethiopia has not been thoroughly investigated. So, this study aimed to assess the nutritional status of HIV/AIDS patients who were on SLART and its associated factors in Northern Ethiopia.
View Article and Find Full Text PDFDysregulated tryptophan metabolism contributes to metabolic syndrome in Chinese community-dwelling older adults.
BMC Endocr Disord
January 2025
School of Public Health, Anhui Medical University, No. 81 Meishan Road, Hefei, Anhui, 230032, China.
Background: As the prevalence of metabolic syndrome (MetS) rises among older adults, the associated risks of cardiovascular diseases and diabetes significantly increase, and it is closely linked to various metabolic processes in the body. Dysregulation of tryptophan (TRP) metabolism, particularly alterations in the kynurenine (KYN) and serotonin pathways, has been linked to the onset of chronic inflammation, oxidative stress, and insulin resistance, key contributors to the development of MetS. We aim to investigate the relationship between the TRP metabolites and the risk of MetS in older adults.
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