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http://dx.doi.org/10.1111/j.1742-6723.2006.00934.x | DOI Listing |
Diabetes Ther
January 2025
Departamento de Endocrinología y Metabolismo, Unidad de Investigación en Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición, Salvador Zubirán, Mexico City, Mexico.
Introduction: Young adulthood is well documented as being a particularly challenging area of type 1 diabetes (T1D) healthcare. Many young adults with T1D (YAT1D) are distracted from effective disease self-management; T1D healthcare service engagement can be problematic and inconsistent, and high rates of unplanned healthcare contacts prevail. Video conferencing use can facilitate services to be flexible and responsive.
View Article and Find Full Text PDFClin Epigenetics
January 2025
Department of Ultrasound, The People's Hospital of China Medical University, The People's Hospital of Liaoning Province, 33 Wenyi Road, Shenhe District, Shenyang, 110067, People's Republic of China.
As an important element of the human body, iron participates in numerous physiological and biochemical reactions. In the past decade, ferroptosis (a form of iron-dependent regulated cell death) has been reported to contribute to the pathogenesis and progression of various diseases. The stability of iron in cardiomyocytes is crucial for the maintenance of normal physiological cardiac activity.
View Article and Find Full Text PDFOrphanet 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.
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pathology, School of Medical Sciences, Clinical Teaching Center, University of Cape Coast, Private Mail Bag, Cape Coast, Ghana.
Cervical cancer continues to disproportionately burden women in sub-Saharan Africa, and is the commonest gynecological cancer in Ghana. The Cervical Cancer Prevention and Training Centre (CCPTC), Battor, Ghana spearheaded the Ghana arm of the mPharma 10,000 Women Initiative (mTTWI) between September 2021 and October 2022. The aim of this study was to examine the outcomes of nationwide concurrent screening using high-risk human papillomavirus (hr-HPV) DNA testing and visual inspection methods, as well as factors associated with the screening outcomes.
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