The effect of a Mediterranean diet vs. a low-fat diet on non-alcoholic fatty liver disease in children: a randomized trial.

Non-alcoholic fatty liver disease (NAFLD) is becoming ever more common in children, due to the increasing global prevalence of obesity. The first-line treatment consists of weight loss through a combination of a healthy diet and exercise. The objective of this study was to determine the effects of a Mediterranean Diet or a low-fat diet on reducing hepatic steatosis and insulin resistance in children with NAFLD. This 12-week randomised clinical trial was conducted with children aged 9-17 years diagnosed with NAFLD and randomised into either a Mediterranean Diet or a low-fat diet group. By the end of the study, hepatic steatosis had decreased significantly in both groups (p < 0.001). Liver enzymes also improved significantly, while significant decreases were observed in insulin resistance in both groups, although this decrease was greater in the Mediterranean Diet group (p = 0.010). This study demonstrated that a decrease in hepatic steatosis and an improvement in insulin sensitivity can be achieved with both a Mediterranean Diet and a low-fat diet over 12 weeks, with no significant decrease in the energy required for growth, in children with NAFLD.

Perilipin polymorphisms are risk factors for the development of obesity in adolescents? A case-control study.

BACKGROUND: The variations in perilipin gene (PLIN) were previously associated with obesity. We examined the association of polymorphisms at the PLIN locus in adolescents with obesity and their connection with serum adipokines. METHODS: A total of 308 children (206 obese, 66.8% and 102 healthy control, 33.2%) between the ages of 10-18 years were included into the study. PLIN gene analysis [PLIN 1, PLIN 4, PLIN 6, PLIN 5'UTR-1234 C > G and PLIN 10171 A/T] were studied by Real Time-PCR. Serum leptin, adiponectin, resistin and ghrelin levels were studied by ELISA method in both groups and their link with perilipin polymorphisms were analyzed. RESULTS: Serum leptin level was found significantly high in obese adolescents. Other adipokine levels were similar in both groups. The incidence of PLIN 1, PLIN 4, PLIN 5'UTR-1234 C > G and PLIN 10171 A/T minor and major alleles was similar in both groups. PLIN 6 T/T allele was determined significantly high in obese adolescents compared to that of control group. No correlation was detected between perilipin polymorphism and serum levels of adipokines. CONCLUSION: The PLIN 6 polymorphism of the perilipin gene may influence the risk of the obesity during adolescence. TRIAL REGISTRATION: Retrospectively registered.

The usefulness of transabdominal ultrasound elastography in Helicobacter pylori gastritis in children.

Background: Helicobacter pylori can colonize the submucosal layer as well as the mucosa in the stomach. Inflammation and erosions cause both mucosal and submucosal thickening in patients with Helicobacter pylori gastritis. Elastography is a method for measuring the elasticity and hardness of tissues by visualization of their response to the applied force. Hard tissues respond to applied compression differently compared to soft tissues. Hard tissues displace as a whole without deforming as opposed to soft tissues. In this study, we investigated the diagnostic performance of transabdominal ultrasound elastography in detecting Helicobacter pylori gastritis in children. Methods: Nineteen children (group 1) with Helicobacter pylori gastritis, 33 children (group 2) with Helicobacter pylori (-) gastritis and 37 healthy children (group 3) were included the study. These groups were compared in terms of their strain index values. Ultrasonographic examinations were performed with a single transducer at 1.8-6.2 MHz frequency range. Results: Both group 1 and 2 had significantly higher strain index values compared to the control group (2.7, 2.2 and 1.4 respectively). Additionally, the mean strain index value was significantly higher in group 1 compared to group 2. Conclusion: Transabdominal ultrasound elastography has diagnostic value in differentiating Helicobacter pylori (+) gastritis from Helicobacter pylori (-) gastritis as well as in the diagnosis of gastritis in children.

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.

Evaluation of the Clinical Effectiveness of Shear Wave Elastography in Pediatric Cases With Acute Appendicitis.

ABSTRACT: To determine sensitivity and specificity of shear wave elastography in pediatric patients diagnosed with acute inflammation of the appendix. Forty-eight patients who were referred for abdominal pain, with 18 volunteers recruited for the evaluation. Alvarado scores were calculated on the patients. The elasticity and stiffness of the inflamed appendix tissues of patients and controls were measured using shear wave elastography. The anterior, posterior, and medial parts of the appendix tissue were measured, calculating the highest elasticity values in kPa. In the end, 32 patients with Alvarado scores between 7 and 9 (group 1) underwent surgery, whereas 3 of them had pathological specimens reporting as normal. Eight of the patients whose Alvarado scores were between 4 and 6 and had inflammatory conditions of the appendix (group 2), plus the control group totaled 16 patients (group 3). The median shear wave value was found to be significantly higher in group 1 (14.7 kPa) than in either group 2 (12.7 kPa) or group 3 (9.3 kPa) (P < 0.01). In the evaluation of the receiver operating characteristic curve, the cutoff value was discovered to be 14.3 kPA (95% CI: 0.753-0.995) in the acute appendicitis group, with a 100% sensitivity and 79.17% specificity. Shear wave elastography examination is not considered an invasive method and is an easily accessible diagnostic tool that can be used to differentiate between inflamed and noninflamed tissue in children. The quantitative measurement for flexibility of the appendix contributes to the diagnosis.

Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.

Benign recurrent intrahepatic cholestasis is a rare disorder characterized by recurrent episodes of cholestatic jaundice without liver damage. A mutation in the ABCB11 gene encoding bile salt export pump protein causes the disease. A 16-year-old boy with severe jaundice is presented here. His laboratory tests were consistent with intrahepatic cholestasis despite having normal gamma-glutamyl transpeptidase levels. Acute and chronic liver diseases with viral, metabolic, and autoimmune etiology were excluded. Magnetic resonance imaging revealed normal intra- and extrahepatic bile ducts. A liver biopsy showed cholestasis in the centrilobular and intermediate zones and sinusoidal dilatation. Genetic testing revealed a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene. The patient was treated with ursodeoxycholic acid 20 mg/kg/day and cholestyramine 4 g twice daily, and total bilirubin decreased to normal ranges after two months of therapy. This mutation (c.3083_3084delCAinsTG) in the ABCB11 gene is the first reported in a patient with benign recurrent intrahepatic cholestasis type 2.