Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives.

 Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis.  We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies.  In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories.  Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants.  Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice. [Abstract copyright: The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).

Understanding the Impact of Adverse Childhood Experiences on Non-suicidal Self-Injury in Youth: A Systematic Review

Objective: Non-suicidal self-injury (NSSI), defined as a deliberate destruction of one’s own body without a suicidal intent, is a global public health issue. Adverse childhood events (ACEs) have been shown to be associated with various mental illnesses; however, to date the impact of such events on NSSI in youth has not been reviewed. Methods: We conducted a systematic review, searched 5 databases for published articles evaluating ACE and NSSI in youth less than or equal to 21 years of age. After screening 247 articles, we included 21 unique articles in this systematic review. Results: Increasing ACE score, physical, sexual or emotional abuse, parental neglect and substance use, parental separation or dysfunctional family, and death of a close family member had statistically significant correlation with NSSI. Conclusion: Non-suicidal self-injury is an impairing diagnosis with far reaching psychiatric manifestations and repercussions. Practitioners having high clinical suspicion for ACEs in youth with NSSI must intervene early by administering the ACEs questionnaire. Effective treatment of NSSI in those with ACEs with psychotherapy significantly improves outcomes and prevents suicide in youth

Exploring health care disparities in genetic testing and research for hereditary cardiomyopathy: current state and future perspectives

Background Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis. Hypothesis We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies. Methods In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories. Results Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants. Conclusions Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice

Fahr's disease with an atypical onset of epileptic seizure

Fahr's disease is a rare neurodegenerative disorder first described by Karl Theodor in 1930, defined by abnormal calcified deposits in the basal ganglia and cerebral cortex. Fahr's disease commonly affects young to middle-aged adults with various clinical presentations, including endocrinologic, dermatologic, and neurologic problems, with extrapyramidal symptoms being the most common manifestation. In this case report, we present a case of an epileptic seizure as the first manifestation of Fahr's disease in a 45-year-old male

Cp*Rh(III)-Catalyzed Low Temperature C–H Allylation of N‑Aryl-trichloro Acetimidamide

The readily synthesized trichloro acetimidamide was found to be an excellent directing group for the directed C–H-allylation reactions. Depending on the allylating agent used, selectively either mono- or diallylated products were readily synthesized. Moreover, the trichloro acetimidamide directing group was found to be highly efficient even at lower temperature for the C–H-allylation reaction. Due to mildness of the reaction conditions, double bond isomerization or cyclization to indole side product was not observed

Weakly Coordinating, Ketone-Directed Cp*Co(III)-Catalyzed C–H Allylation on Arenes and Indoles

Weakly coordinating, ketone-directed, regioselective monoallylation of arenes and indoles is reported using a stable and cost-effective high-valent cobalt­(III)-catalyst to access several important molecular building blocks. The allylation proceeds smoothly with a variety of substrates in the presence of various electron-rich and -deficient substituents. The method was applied to the formal synthesis of an ancisheynine alkaloid, a highly conjugated azatetracene, and isochroman. The mechanistic study reveals that the allylation reaction follows a base-assisted intermolecular electrophilic substitution pathway

Cp*Co^III–Catalyzed <i>syn</i>-Selective C–H Hydroarylation of Alkynes Using Benzamides: An Approach Toward Highly Conjugated Organic Frameworks

Hydroarylation of internal alkynes by cost-effective Co^III-catalysis, directed by <i>N</i>-<i>tert</i>-butyl amides, is achieved to avail mono- or dihydroarylated amide products selectively in an atom and step economic way. Several important functional groups were tolerated under the reaction conditions, and <i>syn</i>-hydroarylation products were exclusively isolated. Notably, a 4-fold C–H hydroarylation provided a highly conjugated organic framework in one step. Kinetic study with extensive deuterium labeling experiments were performed to support the proposed mechanism

Apoptotic cell death in disease-Current understanding of the NCCD 2023

Apoptosis is a form of regulated cell death (RCD) that involves proteases of the caspase family. Pharmacological and genetic strategies that experimentally inhibit or delay apoptosis in mammalian systems have elucidated the key contribution of this process not only to (post-)embryonic development and adult tissue homeostasis, but also to the etiology of multiple human disorders. Consistent with this notion, while defects in the molecular machinery for apoptotic cell death impair organismal development and promote oncogenesis, the unwarranted activation of apoptosis promotes cell loss and tissue damage in the context of various neurological, cardiovascular, renal, hepatic, infectious, neoplastic and inflammatory conditions. Here, the Nomenclature Committee on Cell Death (NCCD) gathered to critically summarize an abundant pre-clinical literature mechanistically linking the core apoptotic apparatus to organismal homeostasis in the context of disease

Apoptotic cell death in disease—Current understanding of the NCCD 2023

Apoptosis is a form of regulated cell death (RCD) that involves proteases of the caspase family. Pharmacological and genetic strategies that experimentally inhibit or delay apoptosis in mammalian systems have elucidated the key contribution of this process not only to (post-)embryonic development and adult tissue homeostasis, but also to the etiology of multiple human disorders. Consistent with this notion, while defects in the molecular machinery for apoptotic cell death impair organismal development and promote oncogenesis, the unwarranted activation of apoptosis promotes cell loss and tissue damage in the context of various neurological, cardiovascular, renal, hepatic, infectious, neoplastic and inflammatory conditions. Here, the Nomenclature Committee on Cell Death (NCCD) gathered to critically summarize an&nbsp;abundant pre-clinical literature mechanistically linking the core apoptotic apparatus to organismal homeostasis in the context of disease

Apoptotic cell death in disease—current understanding of the NCCD 2023

Apoptosis is a form of regulated cell death (RCD) that involves proteases of the caspase family. Pharmacological and genetic strategies that experimentally inhibit or delay apoptosis in mammalian systems have elucidated the key contribution of this process not only to (post-)embryonic development and adult tissue homeostasis, but also to the etiology of multiple human disorders. Consistent with this notion, while defects in the molecular machinery for apoptotic cell death impair organismal development and promote oncogenesis, the unwarranted activation of apoptosis promotes cell loss and tissue damage in the context of various neurological, cardiovascular, renal, hepatic, infectious, neoplastic and inflammatory conditions. Here, the Nomenclature Committee on Cell Death (NCCD) gathered to critically summarize an abundant pre-clinical literature mechanistically linking the core apoptotic apparatus to organismal homeostasis in the context of disease