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La piruvato carboxilasa (PC), una enzima mitocondrial, cataliza la conversión de piruvato, producto final de la glucólisis, en oxaloacetato, un intermediario del ciclo del ácido tricarboxílico. El déficit de piruvato carboxilasa, un trastorno raro, se manifiesta en tres fenotipos clínicos y bioquímicos: tipo de inicio neonatal (tipo A), tipo de inicio infantil (tipo B) y un tipo benigno (tipo C).

Pyruvate carboxylase, a mitochondrial enzyme, catalyses the conversion of glycolytic end-product pyruvate to tricarboxylic acid cycle intermediate, oxaloacetate. Rare pyruvate carboxylase deficiency manifests in three clinical and biochemical phenotypes: neonatal onset type A, infantile onset type B and a benign C type. The objective of this case series is to expand the knowledge of overlapping clinical and biochemical phenotypes of pyruvate carboxylase deficiency.

Health disparities research in the United States over the past 2 decades has yielded considerable progress and contributed to a developing evidence base for interventions that tackle disparities in health status and access to care. However, health disparity interventions have focused primarily on individual and interpersonal factors, which are often limited in their ability to yield sustained improvements. Health disparities emerge and persist through complex mechanisms that include socioeconomic, environmental, and system-level factors. To accelerate the reduction of health disparities and yield enduring health outcomes requires broader approaches that intervene upon these structural determinants. Although an increasing number of innovative programs and policies have been deployed to address structural determinants, few explicitly focused on their impact on minority health and health disparities. Rigorously evaluated, evidence-based structural interventions are needed to address multilevel structural determinants that systemically lead to and perpetuate social and health inequities. This article highlights examples of structural interventions that have yielded health benefits, discusses challenges and opportunities for accelerating improvements in minority health, and proposes recommendations to foster the development of structural interventions likely to advance health disparities research.

The article discusses the National Institute of Aging's (NIA) push for inclusion of diverse older adults in clinical studies as of September 2024. Topics covered include the barriers of comorbidities' exclusion, age limits, concerns on vulnerable persons, and distrust of the healthcare system, and the needs to ensure representation and for appropriate analysis and research expertise in designing trials. Also noted is the NIA's support of initiatives to diversify the research workforce.

Background: Inborn errors of metabolism comprise a set of more than 2000 known disorders which can result in significant morbidity and may be rapidly fatal. Diagnosing these disorders at birth and treating immediately, however, may often result in a normal to near-normal life for the affected infant. Thus, newborn screening (NBS) has saved or improved the lives of countless individuals since its inception in the 1960s. Content: This review covers NBS, from its early beginnings up to the current day practice. We follow the evolution of NBS, as well as describe the need and how disorders are added to NBS programs, the testing and how its performance is monitored, and the follow-up to the testing. We also briefly touch on NBS outside the United States. Summary: Newborn screening in the United States is a major public health success story and it continues to grow and evolve to cover more disorders and utilize new technological advances. [ABSTRACT FROM AUTHOR]

The document titled "A German Literary Paradigm of Relationship Manipulation in Korean writer, Yi Cheong-jun's 'The Wounded' (1966)" is an article published in the Forum for World Literature Studies. The article discusses the manipulation of relationships in the novel "The Wounded" by Korean writer Yi Cheong-jun. The narrator of the novel seems to believe that he had a close relationship with his older brother two years ago, but the brother does not remember this. The article explores the themes of power and desire in the novel, as well as the influence of German literature on Korean modern literature. [Extracted from the article]

Objective The Friedewald equation is the commonly used method of low-density lipoprotein cholesterol (LDL-C) calculation, requiring reflex to direct LDL-C measurement when triglycerides (TG) ≥ 400 mg/dL. Recently formulated Sampson and extended Martin/Hopkins methods have been validated with TG up to 800 mg/dL and thus have the potential to replace direct LDL-C measurement. Given the growing prevalence of childhood dyslipidemia, the objective of this study was to compare Sampson and extended Martin/Hopkins methods of LDL-C calculation with the direct measurement in a pediatric cohort with 400 ≤ TG ≤ 799 mg/dL. Methods This study retrieved standard lipid panels and corresponding direct LDL-C measurements of 131 patients with 400 ≤ TG ≤ 799 mg/dL from a pediatric population. Following the application of Sampson and extended Martin/Hopkins calculations, calculated values were compared with direct LDL-C measurements using ordinary least squares linear regression analysis and bias plotting. Results Both Sampson and extended Martin/Hopkins LDL-C calculations exhibited a strong correlation with the direct measurements (Pearson r  = 0.89) in patients with 400 ≤ TG ≤ 800 mg/dL. Average percentages of bias of 45% and 21% were found between the direct LDL-C measurements and Sampson or extended Martin/Hopkins calculations, respectively.  Conclusion Both Sampson and extended Martin/Hopkins calculations are applicable as clinical alternatives of direct LDL-C measurement in pediatric patients given 400 ≤ TG ≤ 799 mg/dL. [ABSTRACT FROM AUTHOR]