The paper reports the study of 12 patients admitted to hospital between January 1992 and October 1994. The patients were almost all neonates. Clinical, electrocardiographic and radiological data led to the suspected diagnosis of complete transposition of the great vessels. 2-D echocardiography consistently showed the parallel disposition of great vessels, the anterior position of the aorta compared to the pulmonary artery, the origin of the pulmonary artery from the left ventricle and the aorta from the right ventricle, all of which are the anatomopathological characteristics of this congenital cardiopathy, together with associated malformations, thus enabling a certain diagnosis to be made. The authors underline the value of echocardiography in the diagnosis of complete transposition of the great vessels.
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Int J Mol Sci
December 2024
Department of Adolescent and Young Adult Rheumatology, University College London NHS Foundation Trust, London NW1 2PG, UK.
Childhood-onset antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) represents a heterogeneous group of multi-system autoimmune conditions associated with chronic inflammation, characteristically affecting small blood vessels, leading to various organ and system manifestations. Although rare in paediatric populations, AAV poses challenges in early recognition, diagnosis and management of refractory cases. This review highlights the characteristics of clinical presentation and outcomes of AAV in children, as well as its current classification and progress achieved in understanding the disease pathogenesis, with a focus on adult and paediatric genetic studies.
View Article and Find Full Text PDFBiomolecules
December 2024
Department of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX 77204, USA.
HIF-1α plays a crucial regulatory role in vascular calcification (VC), primarily influencing the osteogenic differentiation of VSMCs through oxygen-sensing mechanisms. Under hypoxic conditions, the stability of HIF-1α increases, avoiding PHD and VHL protein-mediated degradation, which promotes its accumulation in cells and then activates gene expressions related to calcification. Additionally, HIF-1α modulates the metabolic state of VSMCs by regulating the pathways that govern the switch between glycolysis and oxidative phosphorylation, thereby further advancing the calcification process.
View Article and Find Full Text PDFFront Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFACS Sens
January 2025
School of Materials Science and Engineering, Guangzhou Key Laboratory of Flexible Electronic Materials and Wearable Devices, Key Laboratory for Polymeric Composite and Functional Materials of Ministry of Education, State Key Laboratory of Optoelectronic Materials and Technologies, Sun Yat-sen University, Guangzhou 510275, People's Republic of China.
Steroid hormones, especially progesterone (P), estradiol (E), and testosterone (T), are key bioactive regulators in various female physiological processes, including growth and development, ovulation, and the reproductive cycle, as well as metabolism and mental health. As lipophilic molecules produced in sex glands, these steroid female hormones can be transported through blood vessels into various body fluids such as saliva, sweat, and urine. However, the ultralow concentration of steroid hormones down to picomolar (pM) level necessitates great demands for ultrasensitive but low-cost analytic tools to implement accurate, point-of-care or even continuous monitoring in a user-friendly fashion.
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
January 2025
Department of Radiology, UZ Leuven, Leuven, Belgium.
Aims: Atrial septal defect (ASD) and partial abnormal pulmonary venous connection (PAPVC) are noncyanotic congenital heart defects (CHD) that produce a left-to-right shunt. This single-center retrospective study aimed to assess the hemodynamic impact of isolated ASD, isolated PAPVC, and ASD-associated PAPVC using cardiovascular magnetic resonance (CMR).
Methods And Results: From our CMR registry (2002-2024), 110 patients were included: isolated ASD (n=64), isolated PAPVC (n=18), ASD-associated PAPVC (n=28, mostly sinus venosus septal defects).
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