Background: Nonalcoholic fatty liver disease (NAFLD) is the most frequent form of liver disease in children, defined as the infiltration of fat into more than 5% of liver cells with metabolic syndrome consisting of dyslipidemia, insulin resistance, and obesity. Objectives: This study aimed to assay the effect of metformin or vitamin E on ultrasonographic grade and biochemical findings of children and adolescents with NAFLD. Methods: This clinical trial was performed on 150 non-diabetic obese children with NAFLD in the age range of 10 to 14 in Qazvin, Iran, during 2018 - 2019. The participants were randomly assigned to three groups: group 1 was treated with metformin at a dose of 500 mg twice daily for three months; group 2 received vitamin E at a dose of 400 units twice daily; and group 3 received a placebo. In addition, all the three groups were given the same proper diet and advised to increase their physical activity. SPSS software version 23 was used to analyze the data. Results: After the intervention, in groups receiving metformin and vitamin E, the grades of fatty liver decreased significantly (P < 0.05), and the decrease was more significant in the group receiving metformin. Conclusions: Insulin resistance is one of the critical factors in the development of nonalcoholic fatty liver disease. By reducing insulin resistance with drug treatment, desirable results can be achieved.
Introduction: Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG. Case Presentation: The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (LS spine from 0.532 to 0.711 gr/cm2 and 0.372 to 0.635 gr/cm2 in femur neck). Conclusions: In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.
Background: Puberty is an essential milestone in a person’s life. Studies show that precocious puberty is more common in girls than in boys. Objectives: The aim of this study was to survey the causes of precocious puberty in children referred to the endocrine clinic in Qazvin city, Iran, from 2006 to 2018. Methods: This case-series study was performed from March 2006 to June 2018 on patients referred to the endocrine clinic of Qazvin University of Medical Sciences, Qazvin City, Iran, for precocious puberty. To diagnose premature puberty and find its causes, we surveyed sex steroids levels, thyroid function, and, if necessary, performed GnRH test. The patients’ height and weight were measured, and their BMIs (Body Mass Index) were calculated. Uterine ultrasound was performed for all girls. Additionally, brain MRI was performed for all boys and girls under age 6 with precocious puberty. X-ray of the left hand was performed to assess skeletal growth acceleration. Based on the type of puberty, the patients were divided into three groups: Central Precocious Puberty (CPP), Peripheral Precocious Puberty (PPP), and normal variant of puberty. The study data were collected from patients› electronic files and analyzed using SPSS 23. Results: Out of 724 cases, 642 (88.70%) were girls. The mean age of all children was 7.07 (95%CI: 6.99-7.15) years. About 70.5% of cases had CPP, 5% PPP, and 24.5% normal variant of puberty. Cases of Idiopathic Precocious Puberty (IPP), PPP, Neurogenic Central Precocious Puberty (NCPP), and premature pubarche were significantly higher in girls than boys (P<0.001). None of the boys had NCPP. Most girls had normal BMI, but boys were more obese. Mean bone age and bone age/age ratio were higher in girls with NCPP (P<0.001). Conclusions: In our study, most girls and boys had idiopathic precocious puberty, and none of the boys had brain lesions. About half of the cases were overweight or obese, indicating the role of obesity in increasing bone age and the onset of puberty.
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v. 7.0. The two siblings presented with different clinical manifestations of OPPG. The younger female sibling had blindness and severe osteoporosis with multiple fractures, while her older brother was also blind but with less severe osteoporosis and no fractures. On analysis, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 (NM_002335) was found, predicted to change a tryptophan at 117 to a stop codon (p. Trp117Ter). Thus, a variable phenotype was associated with an identical variant in these two siblings. The novel mutation reported herein expands the spectrum of the underlying genetic pathology of OPPG.
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