natriuretic-peptide--brain and Mitochondrial-Diseases

Can laboratory tests that are routinely used in adult patients also be used in pediatric patients? Does the current literature support the routine use of troponin, brain natriuretic peptide, D-dimer, and lactate in children? Adult problems such as acute coronary syndrome and pulmonary embolism are rare in pediatrics, and there is a paucity of literature on how blood tests commonly used to help diagnose these conditions in adults play a role in the diagnosis and management of children. This article presents the literature about 4 common blood tests and examines the clinical applications of each.

Topics: Asthma; Biomarkers; Child; Fibrin Fibrinogen Degradation Products; Heart Diseases; Humans; Infections; Intussusception; Lactic Acid; Mitochondrial Diseases; Mucocutaneous Lymph Node Syndrome; Natriuretic Peptide, Brain; Prognosis; Pulmonary Embolism; Respiratory Distress Syndrome; Sepsis; Troponin; Wounds and Injuries

Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and inosine was reported to elevate both hypoxanthine and ATP levels in peripheral blood. Based on those results, we attempted co-administration of febuxostat and inosine in two patients with mitochondrial disease: one patient with mitochondrial cardiomyopathy and the other patient with mitochondrial diabetes. In the former case, brain natriuretic peptide (BNP), which is a specific marker for heart failure, was decreased by 31%, and in the latter case, the insulinogenic index increased 3.1 times, suggesting the favorable action of the treatment. Considering that there is no effective treatment available for this disorder, the present therapy may be quite useful for the management of patients with mitochondrial diseases.

Topics: Adenosine Triphosphate; Aged, 80 and over; Cardiomyopathies; Diabetes Mellitus; Febuxostat; Female; Humans; Hypoxanthine; Inosine; Male; Middle Aged; Mitochondria; Mitochondrial Diseases; Natriuretic Peptide, Brain; Reactive Oxygen Species

Metabolic impairment is an important contributor to heart failure (HF) pathogenesis and progression. Dysregulated metabolic pathways remain poorly characterized in patients with HF and preserved ejection fraction (HFpEF). We sought to determine metabolic abnormalities in HFpEF and identify pathways differentially altered in HFpEF versus HF with reduced ejection fraction (HFrEF).. We identified HFpEF cases, HFrEF controls, and no-HF controls from the CATHGEN study of sequential patients undergoing cardiac catheterization. HFpEF cases (N=282) were defined by left ventricular ejection fraction (LVEF) ≥45%, diastolic dysfunction grade ≥1, and history of HF; HFrEF controls (N=279) were defined similarly, except for having LVEF <45%. No-HF controls (N=191) had LVEF ≥45%, normal diastolic function, and no HF diagnosis. Targeted mass spectrometry and enzymatic assays were used to quantify 63 metabolites in fasting plasma. Principal components analysis reduced the 63 metabolites to uncorrelated factors, which were compared across groups using ANCOVA. In basic and fully adjusted models, long-chain acylcarnitine factor levels differed significantly across groups (P<0.0001) and were greater in HFrEF than HFpEF (P=0.0004), both of which were greater than no-HF controls. We confirmed these findings in sensitivity analyses using stricter inclusion criteria, alternative LVEF thresholds, and adjustment for insulin resistance.. We identified novel circulating metabolites reflecting impaired or dysregulated fatty acid oxidation that are independently associated with HF and differentially elevated in HFpEF and HFrEF. These results elucidate a specific metabolic pathway in HF and suggest a shared metabolic mechanism in HF along the LVEF spectrum.

Topics: Aged; Analysis of Variance; Biomarkers; Case-Control Studies; Fatty Acids; Female; Heart Failure; Humans; Male; Metabolic Diseases; Metabolomics; Middle Aged; Mitochondria, Heart; Mitochondrial Diseases; Natriuretic Peptide, Brain; Oxidation-Reduction; Peptide Fragments; Stroke Volume