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Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front 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 PDFPediatric Pulmonary Arterial Hypertension; is it Possible to Predict its Outcome?
J Saudi Heart Assoc
December 2024
Department of Pediatrics, Pediatric Cardiology Division, Specialized Pediatric Hospital, Cairo University, Egypt.
Objectives: To assess the outcome of pediatric pulmonary arterial hypertension (PAH) and to identify the predictors of morbidity and mortality of this progressive disease.
Patients And Methods: This prospective observational cohort study was conducted on consecutive pediatric patients with PAH. Medical history was taken with a grading of the WHO functional class as well as the serum N-terminal pro-BNP (NT pro-BNP), 6 min' walk test (6MWT), and echocardiography at the initial assessment and at follow-up.
VRAC channel inhibition as a novel strategy for the treatment of ischemia-reperfusion injury.
Front Cell Dev Biol
December 2024
Department of Anesthesiology, Shengjing Hospital of China Medical University, Shenyang, China.
Ischemia-reperfusion injury is a serious clinical pathology involving multiple organs such as the heart and brain. The injury results from oxidative stress, inflammatory response and cell death triggered by restoring tissue blood flow after ischemia, leading to severe cell and tissue damage. In recent years, the volume-regulated anion channel (VRAC) has gained attention as an important membrane protein complex.
View Article and Find Full Text PDFPrognostic value of Chagas heart disease on short- and long-term clinical outcomes in patients hospitalized for COVID-19.
Trans R Soc Trop Med Hyg
January 2025
Department of Cardiology and Cardiovascular Surgery, Faculdade de Medicina de São José do Rio Preto, SP, 15090-000, Brazil.
Background: Immunological similarities led us to explore potential interactions between Chagas heart disease (CHD) and coronavirus disease 2019 (COVID-19). We evaluated CHD's impact on the short- and long-term clinical courses of COVID-19 patients.
Methods: The CHD group comprised consecutive hospitalized patients (March 2020-March 2022), while the controls were selected through genetic matching based on COVID complications predictors.
Effect of PCSK9 inhibitor on early neurological deterioration in acute ischemic stroke patients with a history of coronary heart disease: a study protocol for a randomized controlled trial in Dalian, China.
Trials
January 2025
Department of Neurology, the First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning Province, China.
Background: Early neurological deterioration (END) is a critical determinant influencing the short-term prognosis of acute ischemic stroke (AIS) patients and is associated with increased mortality rates among hospitalized individuals. AIS frequently coexists with coronary heart disease (CHD), complicating treatment and leading to more severe symptoms and worse outcomes. Shared risk factors between CHD and AIS, especially elevated low-density lipoprotein cholesterol (LDL-C), contribute to atherosclerosis and inflammation, which worsen brain tissue damage.
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