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The role of IFI16 in regulating PANoptosis and implication in heart diseases
Cell Death Discov. 2024 May 1;10(1):204. doi: 10.1038/s41420-024-01978-5.ABSTRACTInterferon Gamma Inducible Protein 16 (IFI16) belongs to the HIN-200 protein family and is pivotal in immunological responses. Serving as a DNA sensor, IFI16 identifies viral and aberrant DNA, triggering immune and inflammatory responses. It is implicated in diverse cellular death mechanisms, such as pyroptosis, apoptosis, and necroptosis. Notably, these processes are integral to the emergent concept of PANoptosis, which encompasses cellular demise and inflammatory pathways. Current research implies a significant regulatory role for IFI16 in P...
Source: Atherosclerosis - May 1, 2024 Category: Cardiology Authors: Xindi Chang Bei Wang Yingli Zhao Bing Deng Ping Liu Yiru Wang Source Type: research

Left bundle branch pacing set to outshine biventricular pacing for cardiac resynchronization therapy?
World J Cardiol. 2024 Apr 26;16(4):186-190. doi: 10.4330/wjc.v16.i4.186.ABSTRACTThe deleterious effects of long-term right ventricular pacing necessitated the search for alternative pacing sites which could prevent or alleviate pacing-induced cardiomyopathy. Until recently, biventricular pacing (BiVP) was the only modality which could mitigate or prevent pacing induced dysfunction. Further, BiVP could resynchronize the baseline electromechanical dssynchrony in heart failure and improve outcomes. However, the high non-response rate of around 20%-30% remains a major limitation. This non-response has been largely attributable...
Source: World Journal of Cardiology - May 1, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research

Phenotypic variability among siblings with heterozygous VPS13A variants
Background: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the VPS13A gene. Key clinical characteristics include the progressive movement disorder characterized by chorea, orofaciolingual dyskinesias, limb or facial dystonia. Seizure, neuropathy, psychiatric symptoms, and dilated cardiomyopathy are also frequently found(1). To expand the clinical spectrum of ChAc, we present the phenotypic diversity observed in two siblings carrying the compound heterozygote (ht) variant of c.145-2A>T and c.3943 C>T (p.Gln1315*). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: S. Lee, J.-Y. Lee Source Type: research

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe
by Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon Brugada Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often a diagnostic criterion. Therefore, genetic varia nt classification and routine reinterpretation as data become available represent one of the main challenges associated with genetic analyses. Using the genetic variants identified in an inherited cardiovascular diseases unit du...
Source: PLoS One - May 1, 2024 Category: Biomedical Science Authors: Anna Fernandez-Falgueras Source Type: research

6268386 Heart to find?: A peripartum cardiomyopathy case series
(Source: International Journal of Obstetric Anesthesia)
Source: International Journal of Obstetric Anesthesia - May 1, 2024 Category: Anesthesiology Authors: Khalid Boussouara, Steven Young, Jaqui Hill Source Type: research

Doxorubicin, doxorubicinol, cardiotoxicity, breast cancer, volumetric absorptive microsampling, LC-MS/MS
Conclusion:</b> Dosage cumulative doxorubicin ranges between 47.93 and 346.09 mg/m<sup>2</sup>; with this, the risk of cardiomyopathy in the patients surveyed is under 4%, according to the literature.PMID:38686734 | DOI:10.3923/pjbs.2024.125.131 (Source: Pakistan Journal of Biological Sciences: PJBS)
Source: Pakistan Journal of Biological Sciences: PJBS - April 30, 2024 Category: Biomedical Science Authors: Dian Fitri Chairunnisa Yahdiana Harahap Maria Juanita Nadia Farhanah Syafhan Denni Joko Purwanto Source Type: research

SIRT6 in Regulation of Mitochondrial Damage and Associated Cardiac Dysfunctions: A Possible Therapeutic Target for CVDs
Cardiovasc Toxicol. 2024 Apr 30. doi: 10.1007/s12012-024-09858-1. Online ahead of print.ABSTRACTCardiovascular diseases (CVDs) can be described as a global health emergency imploring possible prevention strategies. Although the pathogenesis of CVDs has been extensively studied, the role of mitochondrial dysfunction in CVD development has yet to be investigated. Diabetic cardiomyopathy, ischemic-reperfusion injury, and heart failure are some of the CVDs resulting from mitochondrial dysfunction Recent evidence from the research states that any dysfunction of mitochondria has an impact on metabolic alteration, eventually caus...
Source: Cardiovascular Toxicology - April 30, 2024 Category: Cardiology Authors: K P Divya Navjot Kanwar P V Anuranjana Gautam Kumar Fathima Beegum Krupa Thankam George Nitesh Kumar K Nandakumar Abhinav Kanwal Source Type: research

Electrophysiological phenotyping of left ventricular noncompaction cardiomyopathy in pediatric populations: A systematic review
AbstractLeft ventricular noncompaction cardiomyopathy (LVNC) is a structural heart defect that has been associated with generation of arrhythmias in the population and is a cause of sudden cardiac death with severe systolic dysfunction and fatal arrhythmias. LVNC has gained increasing acknowledgment with increased prevalence. We conducted a systematic review of reported electrocardiogram (ECG) results for pediatric LVNC patients. EMBASE database query was performed, yielding 4531 articles related to LVNC between 1990 and December 2023. Patient age ranged from prenatal to 18 years of age. Qualitative analyses were perfor...
Source: Physiological Reports - April 30, 2024 Category: Physiology Authors: Lindsey A. Fitzsimons, Delanie M. Kneeland ‐Barber, Gracie C. Hannigan, David A. Karpe, Lyman Wu, Michael Colon, Jess Randall, Kerry L. Tucker Tags: REVIEW Source Type: research