Safety and effectiveness of a biosimilar somatropin (Cinnatropin®) in children and adolescents receiving growth hormone therapy over 1 year: a registry-based phase IV study.

Growth hormone therapy has been shown to be effective in treating a variety of growth-related disorders. This post-marketing study assessed the effectiveness and safety of Cinnatropin®, a biosimilar growth hormone product. The data from the Orchid-Life Registry, which collects long-term effectiveness and safety data from patients receiving Cinnatropin®, was analyzed.

Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.

Background: Biotinidase (BTD, encoded by the BTD gene) deficiency is an autosomal recessive neurometabolic disease caused by abnormal BTD activity in the biotin cycle. The clinical symptoms of patients, which are mainly neurocutaneous, range from mild to severe based on the enzyme activity level. This study aimed to identify BTD gene mutations in suspected BTD deficiency patients for the first time in the southwest of Iran and evaluate their genotype-phenotype correlations.

Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.

Background: There are four distinct forms of Sanfilippo syndrome (MPS type III), each of which is an autosomal lysosomal storage disorder. These forms are caused by abnormalities in one of four lysosomal enzymes. This study aimed to identify possible genetic variants that contribute to Sanfilippo IIIB in 14 independent families in Southwest Iran.

Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome.

Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these patients may affect the nature and function of the immune system. Thus, in this study, cell count and phagocytotic function of neutrophils were evaluated which may be influenced by changes in the hormonal rate and growth factors.

Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.

Mucopolysaccharidoses are a group of lysosomal storage disorders that include seven types that are classified based on the enzymes that are disrupted. Malfunction of these enzymes leads to the accumulation of glycosaminoglycans (GAGs) in various tissues. Due to genetic and clinical heterogeneity, diagnosing and distinguishing the different types is challenging.

Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.

Objective: This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder.

Methods: In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guani-dinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed.

Association of vitamin D status with COVID-19 disease severity in pediatric patients: A retrospective observational study.

Background And Aims: Vitamin D deficiency is associated with increased vulnerability to respiratory infections. This study aimed to determine the potential relationships between coronavirus disease 2019 (COVID-19) severity, serum vitamin D concentrations, and some inflammatory markers among pediatric COVID-19 patients in Iran.

Methods: A retrospective study was conducted among hospitalized pediatric COVID-19 cases in Abuzar Hospital (Ahvaz, Iran) for 6 months.

Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.

Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management.

Background: The purpose of this study is to identify the mutations of the most common form of maturity-onset diabetes of the young (MODY), also known as MODY3, in diabetic patients suspected of MODY. This can recommend appropriate medical surveillance of at-risk family members of MODY based on the genetic cause.

Methods: We analyzed the clinical course of 19 patients from 12 unrelated Iranian families with diabetes features.

Changes in body mass index after pediatric renal transplantation.

Significant weight gain following renal transplantation is common in adult and pediatric recipients and mostly depends on receiving higher doses of steroids, changes in mood and feelings, as well as their level of physical activities. This study was performed to evaluate body weight and body mass index (BMI) before and after kidney transplantation in children and adolescents. In this cross-sectional study, 71 pediatric renal transplant recipients (42 boys and 29 girls) were included.

The Effects of Synbiotic Supplementation on Glycemic Status, Lipid Profile, and Biomarkers of Oxidative Stress in Type 1 Diabetic Patients. A Placebo-Controlled, Double-Blind, Randomized Clinical Trial.

Background And Objective: The aim of the present study was to evaluate the effects of synbiotic on glycemic status, lipid profile, and biomarkers of oxidative stress in type 1 diabetes mellitus (T1DM) patients.

Materials And Methods: In this double-blind clinical trial, 50 T1DM patients were randomly allocated to intervention (n = 25) and control (n = 25) groups and received either synbiotic powder ( GBI-30 (probiotic), maltodextrin and fructooligosaccharide (prebiotic)) or placebo 2 g per day for 8 weeks. Fasting blood samples were collected before and after the intervention to measure fasting blood glucose (FBG), insulin concentration, hemoglobin A1c (HbA1c), lipid profile, and biomarkers of oxidative stress such as total antioxidant capacity (TAC) and hs-C-reactive protein (hs-CRP).

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Objectives: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the brain, lungs, spleen, and liver. SPMD1-associated disease includes classic infantile and visceral NPD type A and B respectively. Type C NPD is subacute or juvenile.

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.

Background: Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives were to investigate clinical phenotypes and performed molecular studies in Iranian patients with MPS VI, for the first time, in the southwestern Iran.

Methods: We studied 14 cases from 10 unrelated kindreds with MPS VI that were enrolled during 8 years.

Higher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study.

Objective: The incidence of congenital hypothyroidism (CH) varies globally. This 5-year study aimed to determine the prevalence of permanent CH in the southwest of Iran.

Materials And Methods: Between January 2007 and December 2009, all newborns in Ahvaz, the biggest city in the southwest of Iran, were screened for CH using a heel-prick sample for thyrotropin (TSH) levels.

Thyroid scintigraphy in three-year-old children with congenital hypothyroidism in correlation with neonatal TSH.

Introduction: A large number of congenital hypothyroidism (CH) cases in Iran are transient. This study was designed to investigate the aetiology of permanent CH (PCH) by thyroid scintigraphy (TS) and its relationship with the first diagnostic thyrotropin (TSH).

Material And Methods: During 12 years (2005-2017) of CH screening in southwest Iran, all infants referred with the diagnosis of CH were followed until their third birthday, when they were re-evaluated for serum T4, TSH after discontinuing the treatment for 3-4 weeks.

Effect of prednisolone on linear growth in children with nephrotic syndrome.

Objective: This study aims at determining the relationship between prednisolone cumulative dose and linear growth in pre-pubertal children with idiopathic nephrotic syndrome.

Method: This cross-sectional study was conducted on all children with idiopathic nephrotic syndrome registered to the pediatric nephrology department at the main referral children's hospital in Southwestern Iran. Inclusion criteria included age (males <12 years; females <10 years), >6 months of use, and the minimum prednisolone cumulative dose of 152mg/kg.

Childhood onset type 1 diabetes at a tertiary hospital in south-western Iran during 2000-2015: Rapid increase in admissions and high prevalence of DKA at diagnosis.

Aims: Incidence of type 1 diabetes mellitus (T1DM) is increasing worldwide. We aimed to study trends in presentation and incidence of childhood diabetes in the last 15years in south-western Iran.

Methods: During a detailed review of compiled records of the main tertiary children's hospital of southwest of Iran, from January 2000 to December 2009, the following clinical information relevant to diabetes were analysed: admissions, demographic data, clinical and laboratory findings, hospital course, and mortality.

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

Objective: Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism-intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin.

Methods: In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran.

Vitamin D status in diabetic children and adolescents.

Introduction: Besides its role in calcium homeostasis, vitamin D (VD) has an important immuno-mudulation effect. However, its role in autoimmune diseases such as type 1 diabetes is under discussion. This study designed to investigate serum VD status in children and adolescents with and without diabetes.

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.

Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations.

Comparison between maternal and neonatal serum vitamin D levels in term jaundiced and nonjaundiced cases.

Background: Neonatal jaundice is the result of an imbalance between the production and conjugation of bilirubin. Considering the multiple roles of vitamin D, lower levels of vitamin D in these cases may be associated with neonatal jaundice. The present study was undertaken for the purpose of comparing serum vitamin D levels in healthy term jaundiced and nonjaundiced newborns and their mothers.

Neck Circumference as a Useful Marker for Screening Overweight and Obesity in Children and Adolescents.

Objectives: Overweight and obesity at an early age are an important criterion for predicting chronic diseases. Each anthropometric method available to assess obesity has its limitations. Recently, one of the indices proposed to better detect this complication is neck circumference (NC).

Molecular determination of glutaric aciduria type I in individuals from southwest Iran.

Background: Glutaric Aciduria type 1 (GA1) is a metabolic inborn error and is characterized by increasing excursion of glutaric acid and its derivates, presented in microcephaly and dystonia. The disease is resulted from mutational inactivation in the GCDH gene encoding the glutaryl-CoA dehydrogenase. The defective enzyme causes the accumulation of an excessive level of intermediate breakdown products that leads to the brain damage.