Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran.

H syndrome is a rare monogenic autosomal recessive disease with characteristic cutaneous findings and multisystem involvement. The aim of this study is to present an Iranian patient with H syndrome and to describe a novel frameshift mutation in SLC29A3 gene. The patient was diagnosed with a few small areas of hyperpigmentation and accompanying hypertrichosis in the lumbar area of her back. Her clinical phenotypes included short stature, hepatosplenomegaly, facial widespread bilateral telangiectatic lesions, bilateral hypertrophy of the parotid gland, upper extremity flexion contracture, elevated inflammatory markers (ESR, CRP) and diabetes mellitus. The identification of a novel homozygous frameshift mutation (c.307_308delTT, p.F103Ter) in SLC29A3 gene, together with the characteristic clinical manifestations of H syndrome, provided accurate diagnosis for this patient.

Systemic Amyloidosis in a Teenage Boy With Inflammatory Bowel Disease.

Systemic amyloidosis is a very rare complication of inflammatory bowel disease (IBD). The reported cases of secondary amyloidosis in children with IBD are much fewer than those reported in adults. Herein, a teenage boy with Crohn's disease is presented who developed nephrotic syndrome due to renal involvement secondary to amyloidosis, whereas the patient was under treatment with corticosteroid and 6-mercaptopurine. To our best knowledge, this is the first reported case of secondary amyloidosis in a teenage Iranian boy with Crohn's disease.

Probiotic for irritable bowel syndrome in pediatric patients: a randomized controlled clinical trial.

BACKGROUND: Irritable bowel syndrome (IBS) is a common gastrointestinal disorder in children. Recently, probiotics have been suggested as a treatment option for gastrointestinal disorders. The most effective species and the most appropriate doses are still unknown. OBJECTIVE: The aim of this study was to assess the effects of Lactobacillus GG (LGG) for treating IBS in pediatric patients. METHODS: In a controlled, double blind, randomized trial, patients with IBS diagnosed by Rome III criteria from August 2012 to September 2012 at Dr. Sheikh Hospital, Mashhad University of Medical Sciences, Iran, were assigned to one of two groups, i.e., intervention and control groups. For four weeks, the intervention group received a probiotic in capsule form that contained LGG at a concentration of 1×10(10) cfu/ml bacteria. For the same period, the control group received a placebo capsule that had the same shape and color but only contained inulin, which also was present in the LGG capsules. The primary outcome was any change in the severity of the patients' pain, and we used a five-point Likert scale to evaluate the severity of their pain. Secondary outcomes were ghanges of the functional scale, stool patterns, and associated problems. RESULTS: Fifty-two patients participated in the study, and 26 patients were assigned randomly to each of the two groups. The severity of the patients' pain decreased significantly in the intervention group after one, two, three, and four weeks of treatment, as indicated by P-values of 0.01, 0.00, 0.00, and 0.00, respectively. Also, there was significant improvement in the functional scale after two weeks of treatment (P-value ≤ 0.00). CONCLUSION: Lactobacillus GG at a concentration of 1×10(10) cfu/ml for a period of four weeks can lessen the severity of the patients' pain and improve the functional scale in patients with irritable bowel syndrome. Probiotics can have therapeutic effects for IBS patients.

Health-related quality of life (HRQOL) in children with chronic liver disease in North East Iran using PedsQL™ 4.0.

BACKGROUND: Health-related quality of life (HRQOL) is a concept that relates to an individual's perception of health status in relation to the culture and value systems in which they live, in addition to their expectations, goals, concerns, and living standards. Considering the size of the population affected by Chronic Liver Diseases (CLDs) and the severity and chronic nature of the symptoms, there is an emerging need to evaluate the quality of life of patients using a standard protocol. The aim of this study is to assess the HRQOL in children with CLD based on child self-report and parent proxy-report forms. METHODS: A total of 164 children, 55 CLD and 109 healthy children (aged 6-17 years), upon referral from the Pediatric Department at Ghaem Hospital in Mashhad from 2010 to 2014 were enrolled in this case-control study. We used the PedsQL(TM) 4.0 generic score scale to assess the HRQOL in children with CLD compared to the control group based on child self- and parent proxy reports. RESULTS: According to the child self-reports, the total HRQOL in the case group (89.93±9.63) was significantly lower than control group (93.05±9.28) (p=0.006). We found significant differences in emotional functioning based on the CLD child self-reports (p=0.001) and their parent proxy-reports (p=0.002). Furthermore, there was a statistically significant correlation between the severity and physical functioning as reported by the Child-Pugh score (p=0.03, r= -0.31) and the MELD/PELD scores (p=0.01, r= -0.35), based on child self-reports. Gender, age of onset, CLD types, duration of the disease, and treatment showed no significant differences with total HRQOL. CONCLUSION: HRQOL is significantly lower in children with CLD in comparison to the normal population. We strongly recommend considering different aspects of quality of life, especially emotional functioning concomitant to the therapy programs.