Solute carrier family 22 member 5 (SLC22A5) encodes a sodium-dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta-oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature-reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation.
Changes in serum lipid and lipoprotein concentrations occur frequently in disorders of thyroid function. LDL-cholesterol (LDL-C) oxidation susceptibility is higher in these patients than in normal population. This study aims at assessing lipids, lipoproteins, apolipoproteins and serum paraoxonase 1 (PON1) activity in patients with thyroid dysfunction. Ninety-nine patients with thyroid dysfunction, (49 hypothyroid and 50 hyperthyroid) were compared with 2 separately age- and sex-matched control groups. A fasting blood sample was obtained and serum total cholesterol, triglycerides, apolipoproteins A-I and B, and PON1 activity were measured. In hyperthyroid patients, significantly lower PON1 activity (45 +/- 23 vs 67 +/- 37 IU/ml, p<0.001), triglycerides (112 +/- 53 vs 166 +/- 130 mg/dl, p<0.05), apolipoprotein A-I (137 +/- 26 vs 154 +/- 21 mg/dl, p<0.001) and apolipoprotein B (75 +/- 18 vs 86 +/- 25 mg/dl, p<0.05) were found. Hypothyroid patients had lower PON1 activity (46 +/- 21 vs 64 +/- 32 IU/ml, p<0.005) compared with controls, and higher total cholesterol (224 +/- 69 vs 185 +/- 41 mg/dl, p<0.001), LDL-C (133 +/- 59 vs 93 +/- 36 mg/dl, p<0.001), and apolipoprotein B (107 +/- 37 vs 84 +/- 23 mg/dl, p<0.001). The results show significant changes of lipid levels in thyroid dysfunction. In addition, a significant reduction in PON1 activity was observed in both hyper- and hypothyroid patients. Increased LDL-C oxidation in thyroid dysfunction observed in other studies, at least to some extent, can be attributed to reduced PON1 activity.
The pandemic of COVID-19, caused by SARS-CoV-2, has recently overwhelmed medical centers and paralyzed economies. The unparalleled public distress caused by this pandemic mandated an urgent quest for an effective approach to manage or treat this disease. Due to their well-established anti-infectious and anti-inflammatory properties, quinine derivatives have been sought as potential therapies for COVID-19. Indeed, these molecules were originally employed in the treatment and prophylaxis of malaria, and later in the management of various autoimmune rheumatic and dermatologic diseases. Initially, some promising results for the use of hydroxychloroquine (HCQ) in treating COVID-19 patients were reported by a few in vitro and in vivo studies. However, current evidence is not yet sufficiently solid to warrant its use as a therapy for this disease. Additionally, the therapeutic effects of HCQ are not without many side effects, which range from mild gastrointestinal effects to life-threatening cardiovascular and neurological effects. In this review, we explore the controversy associated with the repurposing of HCQ to manage or treat COVID-19, and we discuss the cellular and molecular mechanisms of action of HCQ.
Coronavirus disease 2019 (COVID-19) is a global pandemic caused by SARS-CoV-2 virus. As of the 30th of September 2020, around 34,000,000 cases have been reported globally. Pediatrics with underlying congenital heart disease represent a small yet a critical proportion of these patients. In general, the majority of infected children experience mild to moderate disease with significant interindividual variability in laboratory and radiographic findings. Nevertheless, in healthy children with COVID-19, cardiac involvement has been documented and is attributed to various causes. Myocarditis, arrhythmias, cardiogenic shock, and serious multisystem inflammatory syndrome in children are all encountered. Since COVID-19 is a recent novel disease and based on previous experience with respiratory infections, children with underlying congenital heart disease should be given special attention. To date, little data is available about COVID-19 presentation, complications, and appropriate treatment in this population. However, variable and inconsistent disease presentation and severity have been observed. This paper discusses COVID-19 course of illness in pediatric population with a special emphasis on the cardiac manifestations of the disease in healthy population and also on the disease course in congenital heart disease patients in particular.
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