Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency.

Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid ß- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no metabolic screening program except for phenylketonuria (PKU) and hypothyroidism in Iran, and such screening is exclusively implemented in the case of babies with unprovoked seizures and hypoglycemia and previous unexplained sibling deaths. In this paper, we report a case of a seven-year-old boy who presented with afebrile serial seizures leading to coma and death. IN this regard, metabolic screening tests were used to determine the exact cause of encephalopathy and the final diagnosis.

Development of an Innovative Method by Optimizing qPCR Technique for Isolating and Determining Oxalobacter Formigenes Microbial Load in the Stool of Patients with Urolithiasis.

INTRODUCTION: Oxalobacter formigenes, as a gram-negative anaerobic bacterium, metabolizes oxalate in the intestine by the enzymes oxalyl-CoA decarboxylase (OXC) and formyl-CoA transferase (FRC). Therefore, not only the presence of the bacterium but also microbial load may affect intestinal absorption and urinary exertion. We evaluated the relationship between Oxalobacter formigenes load and the formation of calcium oxalate urolithiasis using quantitative molecular methods. METHODS: By clinical manifestation and stone analysis, we selected the urine and stool specimens of 73 patients with calcium oxalate urolithiasis. First, the gene regions of the two genes FRC and OXC in Oxalobacter formigenes were selected utilizing bioinformatics and specific primers designed for these regions. Following DNA extraction from stool specimens by specific primers of each gene, PCR was carried out and positive samples were sequenced. Then, qPCR was applied to determine the effective load of Oxalobacter. Also, biochemical tests were performed to measure the excretion rate of oxalate in urine specimens. RESULTS: In addition to oxalobacter identification by PCR, the load of bacteria was quantitatively assessed using qPCR by specific primers for both FRC and OXC gene regions. A significant negative relationship had found between the formation of calcium oxalate urolithiasis and the presence of Oxalobacter formigenes in patients with kidney stone disease. The mean excretion of oxalate and citrate in urolithiasis cases were 22.93 and 552.106 mg/24h, respectively. CONCLUSION: The presence of Oxalobacter formigenes can highly inhibit the generation of calcium oxalate urolithiasis. Furthermore, molecular techniques are more effective than other methods such as culture for the isolation of this bacterium.

Best Imaging Method for Detection of Renal Stones.

The occurrence rate of nephrolithiasis has increased steadily. The development of stone in children depends on certain physicochemical factors. Kidney stones are one of the challenges of pediatric nephrology. We brief reviewed the current literature on the best diagnostic imaging to decrease the complication of nephrolithiasis, and we considered the areas that need future research.

The Prevalence of Renal Scars Among Infants Under One Year Old With a First UTI With or Without VUR in Qom, Iran, 2017.

Renal scarring with reflux develops renal nephropathy. The risk is higher when it is associated with urinary tract infection (UTI). Hence, we investigated the prevalence of renal scars among children under one-year-old with the first UTI in Qom, Iran. We conducted this retrospective study on 140 infants divided in two reflux (n = 70) and non-reflux (n = 70) groups. Participant's records had been analyzed by descriptive and analytic statistics. The prevalence of renal scar was 32.12% among all 140 infants. The prevalence of renal scars among children with and without reflux, was 33 (47.1%), and 12 (17.1%) out of 70 (P < .001); respectively. The rate of renal defects increased with higher grades of reflux. We found that the rate of renal scar is high in Qom. Therefore, we recommend screening susceptible children in order to prevent renal damage.

Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report.

We report two sisters (13- and 4-year-old) presenting with moderate intellectual disability, dysmorphic facial features, intermittent hematuria, proteinuria, and dental caries. Their parents and other family members were not affected. Whole-exome sequencing was performed to screen the underlying genetic cause. These patients have been analyzed using Next-Generation Sequencing (NGS) method and homozygote variant (c.890delC) has been detected in the THOC6 gene. Direct Sanger sequencing confirmed that they are homozygote for the pathogenic variant mutations in the THOC6 gene, which is associated with Beaulieu-Boycott-Innes syndrome (BBIS). These patients also had proteinuria and subsequently developed hematuria. This is the first report of BBIS in association with proteinuria and hematuria without renal defects. Core clinical features include low birth weight with subsequent growth failure, short stature, and intellectual disability with language delay, characteristic faces, cardiac defects, and renal anomalies. The possible pathophysiological mechanisms associated with proteinuria and transient hematuria without renal defects are discussed.

Different Approaches to Detect "Nanobacteria" in Patients with Kidney Stones: an Infectious Cause or a Subset of Life?

PURPOSE: This research focused on the detection of nanobacteria in kidney stones of 30 Iranian patients without adding fetal bovine serum (FBS) to the culture media. MATERIALS AND METHODS: Nanobacteria were isolated from a nephro-ureterolithiasis extract of the urinary tract and kidney of patients and were cultured in the laboratory. The growth of nanobacteria was monitored using a spectrophotometer, and with inverted microscopy technique, their crystallization was analyzed after two days. The images from atomic force microscopy (AFM), transmission electron microscopy (TEM) and scanning electron microscopy (SEM) indicated the morphology and demonstrated the size of the cultured nanobacteria which is between 60 and 160 nm. Fourier transform infrared spectroscopy (FTIR) and X-ray diffraction (XRD) were used to study the chemical composition, surface functional groups and crystal structure of the igloo-like nanobacteria shell. FTIR spectra in theregion of 1000 to 1200 cm-1 and the XRD peaks provided evidence that the main components of the nanobacteria shell were apatite-based compounds. RESULTS: Nanobacteria infected all the 27 patients with apatite kidney stone, and none of the three patients who had uric acid kidney stone were infected as confirmed by the cultivation of the stones samples. The results showed that nanobacteria might play a fundamental role in the formation of apatite-based kidney stones. CONCLUSION: The biomineralization ability of nanobacteria may lead to calcification of the soft tissues, which in turn may result in other diseases. It is also suggested that nanobacteria may be a factor in calcification-related diseases and disorders with poorly characterized etiologies. This research with its different approaches, clarified significant doubts that nanobacteria act as contaminant, warranting continued investigation of its role in other diseases.

Biochemical risk factors for stone formation in healthy school children.

Prevalence of urolithiasis in childhood is increasing. The wide geographic variation in the incidence of lithiasis in childhood is related to climatic, dietary, and socioeconomic factors. Many children with stone disease have a metabolic abnormality. In Southeast Asia, urinary calculi are endemic and are related to dietary factors. The main aim of this study was to determine the prevalence of renal stone, urine metabolic abnormality, control of blood pressure and demographic character in elementary school children of Qom. A cross sectional study was performed on 110 primary school children (56 girls and 54 boys) aged 7 to 11 years old. Demographic data such as age, height, weight were gathered, and systolic and diastolic blood pressure, Urine analysis and culture, urinary levels of calcium, creatinine, phosphorus, magnesium, sodium, potassium, uric acid, cystine, citrate, oxalate, protein and sonographic findings were evaluated. The mean (±SD) of age was 8.85±1.51 years. Only one child had renal stone (1%), but the prevalence of abnormal renal sonography was 7%. The most prevalent urine metabolic abnormalities were hypercalciuria (23%) and hypocitraturia (100%). 11.2% of children had positive urine culture that all were female. The prevalence of high blood pressure was 7.1% for girls and 11.1% for boys. The prevalence of renal stone in children in this study was 1%, which means the accurate judgment about the prevalence of renal stone in Qom city needs more comprehensive studies. Similar to other studies in Iran this study shows that the prevalence of hypercalciuria is significantly higher comparing to other countries, it may be associated with excessive intake of sodium.