Lead poisoning as a differential diagnosis in pediatric patients with chronic abdominal pain: a case-control study in Tehran-Iran.

Background: Chronic abdominal pain is a potential symptom of lead poisoning, which is often challenging to diagnose. This case-control study aimed to evaluate blood lead levels in pediatric patients with chronic abdominal pain.

Methods: The case-control study was conducted on 190 pediatrics who presented to the Children's Medical Center Hospital clinics, Tehran between April 2021- 2023.

Hepatitis C infection seroprevalence in pregnant women worldwide: a systematic review and meta-analysis.

Background: Monitoring progress towards the WHO global target to eliminate hepatitis C virus (HCV) infection by 2030, entails reliable prevalence estimates for HCV infection in different populations. Little is known about the global burden of HCV infection in pregnant women. Here, for the first time to our knowledge, we estimated the global and regional seroprevalence of HCV antibody (Ab) and determinants in pregnant women.

Chlamydia pneumonia infection and risk of multiple sclerosis: A meta-analysis.

Background: The role of infectious agents, including Chlamydia pneumoniae (Cpn), in the development of multiple sclerosis (MS), is still a matter of major contention.

Objective: This meta-analysis study aimed to assess the actual involvement of Cpn in MS development.

Methods: We undertook a search of international scientific databases to identify eligible studies.

Dysregulation of PVT1 and NEAT1 lncRNAs in pituitary adenomas.

Pituitary adenomas are slow-growing tumors originated from the anterior part of pituitary gland. These tumors are associated with dysregulation of a number of long non-coding RNAs (lncRNAs). PVT1, TUG1, MALAT1, NEAT1 and GAS5 are among lncRNAs with important roles in the regulation of cell proliferation, cell apoptosis, cell differentiation and cell cycle transition.

Determination of Bone Density by DEXA Method Based on Bone Age and its Comparison with Chronological Age in Chronic Patients.

Background And Objective: Given the growing awareness about the important role of children's age in building bone for a person's life, physicians need to assess bone health in high-risk children for bone density disorders more than before to optimize their bones' density and prevent osteoporosis in future. The aim of this study was to evaluate bone density based on chronological and bone age.

Materials And Methods: In this cross-sectional study, 80 Patients who have been referred for bone density to the Osteoporosis Centre of the Children's Medical Centre over a one-year period (spring 98 to spring 99) were studied.

Has_circ_0008285/miR-211-5p/SIRT-1 Axis Suppress Ovarian Cancer Cells Progression.

The significant functional role of circular RNAs (circRNAs) in the progression of malignant tumors, including ovarian cancer, has been shown in various studies. In this study, we aimed to investigate the abnormal expression of hsa_circ_0008285 and its role in ovarian cancer pathogenesis. Quantitative real time polymerase chain reaction (qRT-PCR) and Western blot methods were used to detect the expression of hsa_circ_0008285 and some target genes in ovarian cancer tissues and related cell lines.

Relationship between a near Melanocortin-4 receptor gene variant and puberty timing in children is vague unlike obesity.

Background: Obesity is a complicated phenomenon which is a combination of genetic, environmental, and psychological factors. Genetic factors of obesity play an important role in individual risk. It is well known that obese children have disturbed puberty timing.

Mesenchymal stem cell transplantation in newly diagnosed type-1 diabetes patients: a phase I/II randomized placebo-controlled clinical trial.

Background: Type-1 diabetes (T1D) occurs following autoimmune-induced pancreatic beta cells death. Among several treatment modalities, mesenchymal stem cells (MSCs) transplantation is promising for autoimmune disorders due to immunomodulation, regeneration, and migration to damaged tissue upon systemic injection. This study assessed the safety and efficacy of intravenous injection of autologous bone marrow-derived MSCs in newly diagnosed T1D patients.

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.

Objective: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families.

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism.

Objective: Congenital hyperinsulinism (CHI) is the most frequent cause of severe and persistent hypoglycaemia from birth. Understanding the pathophysiology and genetic defects behind hyperinsulinism and its complications provides clues to timely diagnosis and management. The aim of this study was to evaluate the underlying genetic aetiology of a specific Iranian pediatric cohort with CHI.

Early and delayed puberty among Iranian children with obesity.

Background: It has been hypothesized that puberty onset is disturbed as the children gain more weight. This study aimed to investigate the prevalence and risk factors of the puberty disturbances among children with obesity in Tehran, Iran.

Methods: This study was performed as a cross-sectional study, investigating 168 children with obesity from Tehran, Iran, from March 2018 to February 2019.

p.Gln318X and p.Val281Leu as the Major Variants of Gene in Children with Idiopathic Premature Pubarche.

Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH). In this study, we investigated the role of gene variants in patients with PP in the Iranian population.

Role of vitamin D and vitamin D receptor gene polymorphisms on residual beta cell function in children with type 1 diabetes mellitus.

Background: After the onset of type 1 diabetes mellitus (T1DM), preservation of the residual ß-cell function can help good metabolic control. The aim of this study was to evaluate the effect of vitamin D and its receptor gene polymorphisms on residual ß-cells function.

Methods: One hundred and one children with T1DM (new cases) older than 5 years were selected.

Translation, cross-cultural adaptation, reliability and validity of the Persian version of the ACL-QOL questionnaire in patients with anterior cruciate ligament reconstruction.

Background: Quality of life (QOL) measures can be used to make sound clinical decisions after reconstruction of the anterior cruciate ligament (ACL). The purpose of the present study was to translate and cross-culturally adapt the Anterior Cruciate Ligament Quality of Life (ACL-QOL) questionnaire into the Persian language and to evaluate its psychometric properties.

Methods: The process of translation and cross-cultural adaptation followed the World Health Organization method.

Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients.

Background: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in the development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset.

The Effect of Metformin as an Adjunct Therapy in Adolescents with Type 1 Diabetes.

Introduction: The strict control of blood glucose levels in adolescents with Type 1 Diabetes Mellitus (T1DM) is accompanied with a considerable long term decrease in microvasular and macrovascular complications.

Aim: This study was conducted to investigate the effect of metformin as an adjunct therapy in adolescents with poorly controlled Type 1 diabetes.

Materials And Methods: It was a quasi-experimental (an uncontrolled before and after) study.

Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran.

Background: There is limited data on sexual maturation among girls with intellectual, sensory, or physical disabilities.

Objectives: The present cross-sectional study was conducted to assess the sexual maturation of girls with these disabilities in special schools.

Methods: In this cross-sectional study, we evaluated the onset and progression of sexual maturation in 642 six to 18-year-old girls with intellectual, sensory, or physical disabilities from special schools in Tehran.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some populations including Iranian Jews.

Assessment of Vitamin D Status and Response to Vitamin D3 in Obese and Non-Obese Iranian Children.

Background: Obesity seems to be a critical issue nowadays because of its high prevalence and its adverse effects on health. There is some evidence indicating the relationship between obesity and lower serum 25-hydroxyvitamin D [25(OH)D] concentration. The aim of the present study was to examine serum 25(OH)D status of obese and non-obese Iranian children and compare their therapeutic response with identical oral vitamin D3 treatment.

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22.

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22.

Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings.

Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature.

Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. The main features of this disorder include painful swelling of long bones, increased renal reabsorption of phosphate but normal renal function and vitamin D and parathormone levels. Previously, we reported a novel missense mutation in the FGF23 gene in a patient suffering from HHS.