Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

The mitochondrial phosphate carrier is critical for adenosine triphosphate synthesis by serving as the primary means for mitochondrial phosphate import across the inner membrane. Variants in the SLC25A3 gene coding mitochondrial phosphate carrier lead to failure in inorganic phosphate transport across mitochondria. The critical dependence on mitochondria as an energy source is especially evident in tissues with high-energy demands such as the heart, muscle; defects in the mitochondrial energy production machinery underlie a wide range of primary mitochondrial disorders that present with cardiac and muscle diseases. The characteristic clinical picture of a prominent early-onset hypertrophic cardiomyopathy and lactic acidosis may be an indication for analysis of the SLC25A3 gene. Here, described a patient with suspicion of infantile Pompe disease due to involvement of heart and muscle and high-level of plasma creatinine kinase but finally diagnosed mitochondrial phosphate-carrier deficiency.

What chances do children have against COVID-19? Is the answer hidden within the thymus?

A new type of coronavirus named as SARS-CoV-2 pandemic has begun to threaten human health. As with other types of coronaviruses, SARS-CoV-2 affects children less frequently, and it has been observed that the disease is mild. In the pathogenesis of a standard viral infection, the pathogen's contact with the mucosa is initially followed by an innate immunity response. T cells are the primary decisive element in adaptive immunity capability. For this reason, the adaptive immune response mediated by the thymus is a process that regulates the immune response responsible for preventing invasive damage from a virus. Regulatory T cells (T-reg) are active during the early periods of life and have precise roles in immunomodulation. The thymus is highly active in the intrauterine and neonatal period; it begins to shrink after birth and continues its activity until adolescence. The loss of T-reg function by age results in difficulty with the control of the immune response, increased inflammation as shown in coronavirus disease (COVID-19) as an inflammatory storm. Also, the thymus is typically able to replace the T cells destroyed by apoptosis caused by the virus. Thymus and T cells are the key factors of pathogenesis of SARS-CoV-2 in children.Conclusion: We speculated that thymus activity and T lymphocyte function in children protect them against the virus effects. Stimulating and preventing the inhibition of the thymus can be possible treatment components against COVID-19. What is Known: • The SARS-CoV-2 infection does not often progress with an invasive clinic in children. • Thymus activity and T lymphocyte functions are highly active in children. What is New: • Effective thymus activity and T lymphocyte function in children protect them against the invasive SARS-CoV-2 infection. • Stimulating and preventing the inhibition of the thymus can be possible treatment components against COVID-19.

The Role of ProBNP on Prognosis in Scorpion Stings.

INTRODUCTION: Scorpion stings are a major health problem with potentially fatal consequences. Children under the age of 10 y especially face a great risk. Predicting the prognosis is important in reducing mortality and morbidity because it enables the use of early treatment options. In this study, we examine the relationship between proBNP and prognosis in scorpion stings. METHODS: This is a retrospective analysis of patients aged ≤18 y who were admitted to the child emergency service with a scorpion sting. We examined the demographical data, clinical findings, laboratory records, treatments, and results of the patients. We classified stage 1 and stage 2 scorpion envenomation as group 1 (mild-moderate) and stage 3 and 4 as group 2 (severe). A t test was used for normally distributed data, and the Mann-Whitney U test was used for nonnormally distributed data. The correlation analysis was done using the Spearman test. RESULTS: There were 32 (74%) patients in the mild-moderate group and 11 (26%) in the severe group. ProBNP 1 was significantly higher in the severe group at admission (P=0.016). There was no difference between the troponin I values (P=0.051). ProBNP 2 (12th hour) and proBNP 3 (24th hour) were higher in the severe group (P=0.001 and P=0.032, respectively). There was a negative correlation between proBNP and echocardiographic findings involving ejection fraction and shortening fraction (r=-0.703, P=0.002). CONCLUSIONS: In our study, the first proBNP values were significantly higher in the severe group. This suggests that proBNP may be beneficial in predicting prognosis.

Evaluation of cases with infantile hemangioma requiring treatment.

AIM: Infantile hemangiomas are the most common benign vascular tumours in infants. In this study, we aimed to evaluate the effectiveness of propranolol therapy in patients with infantile hemangioma.