Background and Aims: Niemann–Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalose has been suggested as an autophagy inducer with therapeutic neuroprotective effects. We performed a single-arm, open-label pilot study to assess the potential efficacy of trehalose treatment in patients with NPA and NPB patients. Methods: Five patients with NPD type A and B were enrolled in an open-label, single-arm clinical trial. Trehalose was administrated intravenously (IV) (15 g/week) for three months. The efficacy of trehalose in the management of clinical symptoms was evaluated in patients by assessing the quality of life, serum biomarkers, and high-resolution computed tomography (HRCT) of the lungs at the baseline and end of the interventional trial (day 0 and week 12). Results: The mean of TNO-AZL Preschool children Quality of Life (TAPQOL) scores increased in all patients after intervention at W12 compared to the baseline W0, although the difference was not statistically significant. The serum levels of lyso-SM-509 and lyso-SM were decreased in three and four patients out of five, respectively, compared with baseline. Elevated ALT and AST levels were decreased in all patients after 12 weeks of treatment; however, changes were not statistically significant. Pro-oxidant antioxidant balance (PAB) was also decreased and glutathione peroxidase (GPX) activity was increased in serum of patients at the end of the study. Imaging studies of spleen and lung HRCT showed improvement of symptoms in two patients. Conclusions: Positive trends in health-related quality of life (HRQoL), serum biomarkers, and organomegaly were observed after 3 months of treatment with trehalose in patients with NPA and NPB. Although not statistically significant, due to the small number of patients enrolled, these results are encouraging and should be further explored.

Background: Non-alcoholic fatty liver disease (NAFLD) is considered as the most common chronic liver disease, which can contribute to some clinical conditions varying from simple steatosis to hepatic cirrhosis. Consequently, the early diagnosis of NAFLD is vital. The present study aimed at investigating the ability of FLI (fatty liver index) in predicting NAFLD. Methods: A total of 212 individuals over the age of 18 years (103 males and 109 females) were recruited from those admitted to a gastrointestinal clinic in Mashhad, northeastern Iran. Anthropometric parameters were measured and blood samples were collected. Hepatic steatosis and fibrosis were identified by FibroScan. FLI from body mass index, waist circumference (WC), triglyceride, and gamma glutamyltransferase data were calculated. Logistic regression was applied to establish a relationship among FLI, hepatic steatosis, and fibrosis. The sensitivity and specificity of FLI and its optimal cut-off point were detected by receiver operating characteristic analysis. Results: The mean age of the participants was 39.26 ± 14.18 years. FLI was significantly associated with NAFLD (OR = 1.062, 95%CI: 1.042 - 1.082, P < 0.001) and hepatic fibrosis (OR = 1.022, 95%CI: 1.011 - 1.032, P < 0.001). The AUC of FLI was 0.85 (95%CI = 0.79 - 0.9) in the diagnosis of NAFLD, and its optimal cut-off point was 26.2 (sensitivity = 0.83, specificity = 0.7). Also, the optimal cut- off point of FLI was 30.4 in males (sensitivity = 0.82, specificity = 0.71) and 20.7 in females (sensitivity = 0.89, specificity = 0.66). Conclusions: Fatty liver index (FLI) is a suitable and simple predictor for liver steatosis. However, performance of FLI in predicting NAFLD is not more effective than WC. Although FLI is a predictor for liver steatosis, it has a positive association with liver fibrosis and can perhaps predict liver fibrosis too. Keywords: Fatty Liver Index; Non-Alcoholic Fatty Liver Disease; Hepatic Steatosis; Hepatic Fibrosis; Waist Circumference

Background: Ureteropelvic junction obstruction (UPJO) is one of the most common causes of urinary tract obstruction in children. Several methods are used to diagnose upper urinary tract obstruction including renal ultrasonography (US), intravenous pyelogram (IVP), diuretic renography (DR), magnetic resonance urography (MRU) and antegrade or retrograde pyelography. Nowadays it is suggested to use diuretic renography as the best method for diagnosing of UPJO. There is no comparative study between IVP and DR scan for diagnosis of UPJO in children. Objectives: The aim of the present study was to compare IVP with furosemide injection and diuretic renography in diagnosis of clinically significant UPJO. Patients and Methods: This was a cross sectional study performed in 153 UPJO suspected children (121 boys, 32 girls) based on US findings in cases presented with urinary tract infection (UTI), prenatal hydronephrosis, abdominal/flank pain, abdominal mass and hematuria. Renal ultrasound was used as an initial screening tool for detection of urinary tract abnormality. Vesicoureteral reflux (VUR) was ruled out by voiding cystourethrography (VCUG). Serum creatinin, blood urea nitrogen, urinalysis and urine culture was screened in all cases. IVP with furosemide and DR were performed as soon as possible after the mentioned workup. Results: During a five year period, 46 out of 153 patients were diagnosed as UPJO based on diuretic renography: the age ranged from 4 months to 13 years (mean: 3.1 ± 0.78 years). There was a significant higher (76%) proportion of UPJO in the boys and in the left side (78%). The sensitivity of IVP with furosemide injection in diagnosis of UPJO was 91.3% whereas DR was accepted as standard for diagnostic procedure in diagnosis of UPJO. Conclusions: Although DR is accepted as the best method for diagnosis of UPJO, we found a small sensitivity difference between IVP and DR in kidneys with normal or near normal function. In many settings such as small cities lacking facilities for advanced isotope imaging technology, use of IVP with diuretic maybe an acceptable procedure for diagnosis of UPJO. Keywords: Ureteropelvic Junction Obstruction; Intravenous Urography; Diuretic Renography; Diruretic Urography; Excretory Urography; Children

Nowadays, magnetic resonance imaging (MRI) is the gold standard for evaluation and diagnosis of spinal cord abnormalities, which are considered among the leading causes of neurogenic bladder; however, MRI is a costly imaging method and is not available at all health centers. Sporadic studies have shown the alignment of MRI with ultrasonography results in diagnosis of spinal abnormalities; although none of these studies has expressed the diagnostic value of ultrasonography. The aim of this study was to evaluate the diagnostic value of ultrasonography in detection of spinal abnormalities in children with neurogenic bladder. This is a cross-sectional study carried out from January 2014 to November 2015 on patients with neurogenic bladder referred to Department of Radiology, Dr. Sheikh Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. All patients underwent sonography of the spinal cord and soft-tissue masses; also, a spinal MRI scan was performed. The existence of spina bifida, sacral agenesis, posterior vertebral arch defects, mass, tethered cord, myelomeningocele, lipoma and fatty infiltration, dural ectasia, hydromyelia and syringomyelia, and diastomatomyelia was recorded during each imaging scan. Chi-square and Fisher’s tests were used for data analysis using SPSS 19.0 software, and the sensitivity and specificity of ultrasonography findings were calculated by MedCale 26 software. Forty patients with neurogenic bladder (22 males/18 females), with an average of 25.73±19.15 months, were enrolled. The most common abnormality was found in patients’ MRI was tethered cord syndrome (70%). There was a significant relationship between ultrasonographic and MRI findings in spina bifida abnormalities (p=0.016), sacral agenesis (p=0.00), tethered cord (p=0.00), myelomeningocele (p=0.00), and lipoma and fatty infiltration (p=0.01). Ultrasonography had a sensitivity of 20.0%–100% and a specificity of 85.7%–100% depending on the detected type of abnormality. It seems that ultrasonography has an acceptable and desirable sensitivity and specificity in the diagnosis of most of the spinal cord abnormalities in children with a neurogenic bladder.