Reactive hyperemia of the skin microcirculation can be easily and reproducibly assessed by laser Doppler flowmetry. Vasodilator prostaglandins are the major mediators of postischemic skin hyperemia, which is impaired in hypercholesterolemic patients and can be enhanced by cholesterol-lowering therapy. Thus, laser Doppler flowmetry may represent a tool to assess and monitor vascular function during therapy in everyday practice.

AKI is associated with high mortality in preterm neonates. It is very important to identify, as quickly as possible, all infants who are at high risk of developing AKI.

TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood.

Acute PD is still an appropriate treatment choice for VLBW neonates with AKI. In VLBW neonates, PD can be performed with an improvised PD system and catheters.

The aim of this study was to evaluate the association between idiopathic hypercalciuria (IH) and urinary tract infection (UTI) in children. This prospective clinical study included 75 patients with UTI (without urinary tract malformations and lithiasis) and a control group of 30 healthy children. Of the total number of patients with UTI, 21% (n=16/75) had IH, but only 7% (n= 2/30) with IH were reported in the control group (p<0.05). Recurrent UTI affected 33% (n=25/75) of patients , and in 67% (n=50/75) of patients, UTI was diagnosed for the first time. In the group of patients with recurrent UTI, 44% (n= 11/25) had IH, but only 10% (n=5/50) were reported in the group of patients with first-time UTI (p<0.05). The results of multifactorial logistic regression analysis showed that clinical and laboratory parameters (recurrent UTI, dysuria, and microscopic hematuria) may predict the diagnosis of IH in 80% of patients and absence of IH in 87% of cases. In our opinion, IH is a major contributing factor to UTI, especially to recurrent UTI in children.

Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six individuals from five families presenting with either severe neonatal onset lactic acidosis, encephalomyopathy and early death or a later onset, more attenuated course of disease with predominating intellectual disability. Respiratory chain enzymes were usually normal in muscle and fibroblasts, while a severe combined respiratory chain deficiency was found in the liver of a severely affected individual. Exome sequencing revealed rare biallelic variants in WARS2 in all affected individuals. An increase of uncharged mitochondrial tRNA and a decrease of mtTrpRS protein content were found in fibroblasts of affected individuals. We hereby define the clinical, neuroradiological, and metabolic phenotype of WARS2 defects. This confidently implicates that mutations in WARS2 cause mitochondrial disease with a broad spectrum of clinical presentation.

Similar to other studies, our data showed that neonates with AKI have worse outcome. Neonatal AKI defined based on SCr + UOP criteria is a better predictor of death than neonatal AKI defined based only on the SCr or UOP criteria. Also, by using SCr + UOP criteria for diagnosing neonatal AKI, more patients with AKI are recruited than when only one of those criteria is used.

Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene.