The Incidence, Risk Factors, and Outcomes of Acute Kidney Injury in Pediatric Hematopoietic Stem Cell Transplant Recipients.

Introduction: Acute kidney injury (AKI) is a frequent complication after hematopoietic stem cell transplantation (HSCT), with reported incidences ranging from 20-70% within the first 100 days post-transplant. AKI can adversely impact outcomes and survival in this patient population.

Methods: This retrospective study evaluated 110 pediatric patients who underwent HSCT at Mofid Children's Hospital, affiliated with Shahid Beheshti University of Medical Sciences, Tehran, Iran, between 2016-2021.

The first national pediatric immune thrombocytopenia registry in Iran: research protocol and preliminary study results.

Background: Disease registries are comprehensive databases that record detailed information on patients diagnosed with specific conditions, providing valuable insights into their diagnosis, treatment, and outcomes. This study aims to describe the pilot phase of the national pediatric Immune Thrombocytopenia(ITP) registry (NPITP) in Iran, serving as the inaugural interpretive report.

Methods: This patient-centered software system was implemented as a national program across multiple pediatric centers in Iran.

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Seckel syndrome is a rare autosomal recessive disorder, characterized by growth retardation and multiple anomalies associated with CNS vasculopathy. We describe a child with Seckel syndrome who developed a stroke due to non-moyamoya vasculopathy.

Novel blood and tissue-based mitochondrial D-loop mutations detected in an Iranian NAFLD patient cohort.

Non-alcoholic fatty liver disease (NAFLD) is an increasingly prevalent chronic liver disease characterized by an elusive etiology. In its advanced stages, this condition can pose life-threatening implications. Mitochondrial dysfunction due to its impact on hepatic lipid homeostasis, cytokine release, ROS production, and cell death, contributes to the pathogenesis of NAFLD.

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Background: Osteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis).

Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation.

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes. Phenotypes of this disease are a set of clinical manifestations ranging from neonatal disorders to myopathy or recurrent episodes of liver failures, and vomiting for which no adequate or definitive treatment is currently available. This study described a case involving a 16-year-old boy who had experienced recurrent vomiting of unknown cause from age two.

Online information-seeking behavior of Iranian web users on Google about Henoch-Schönlein purpura (HSP): an infodemiology study.

Backgrounds: Previous studies have indicated that users' health information-seeking behavior can serve as a reflection of current health issues within a community. This study aimed to investigate the online information-seeking behavior of Iranian web users on Google about Henoch-Schönlein purpura (HSP).

Methods: Google Trends (GTr) was utilized to collect big data from the internet searches conducted by Iranian web users.

Prevalence of Anemia and its Relation with Shwachman Score in Children with Cystic Fibrosis.

Background: Cystic fibrosis is a chronic and progressive genetic disease with a worldwide prevalence. As the disease progresses, symptoms develop, and make its management more challenging. Accumulating evidence suggests that early diagnosis of CF can significantly contribute to preventing reported nutritional problems including anemia, vitamin deficiencies, and hypoalbuminemia.

Development and evaluation of a customized checklist to assess the quality control of disease registry systems of Tehran, the capital of Iran in 2021.

Background: Clinical registries facilitate medical research by providing 'real data'. In the past decade, an increasing number of disease registry systems (DRS) have been initiated in Iran. Here, we assessed the quality control (QC) of the data recorded in the DRS established by Shahid Beheshti University of Medical Sciences in Tehran, the capital city of Iran, in 2021.

Investigation of FGF21 mRNA levels and relative mitochondrial DNA copy number levels and their relation in nonalcoholic fatty liver disease: a case-control study.

Although the exact mechanisms of nonalcoholic fatty liver disease (NAFLD) are not fully understood, numerous pieces of evidence show that the variations in mitochondrial DNA (mtDNA) level and hepatic Fibroblast growth factor 21 (FGF21) expression may be related to NAFLD susceptibility. The main objective of this study was to determine relative levels of mtDNA copy number and hepatic FGF21 expression in a cohort of Iranian NAFLD patients and evaluate the possible relationship. This study included 27 NAFLD patients (10 with nonalcoholic fatty liver (NAFL) and 17 with non-alcoholic steatohepatitis (NASH)) and ten healthy subjects.

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Hemoglobin H (Hb H) disease is a subtype of α-thalassemia caused by deletional and/or non-deletional mutations in three alpha-globin genes in which the various genotypes determine the disease severity. This study was aimed to investigate the frequency of alpha gene mutations and genotypes and their correlation with hematological and clinical characteristics in Iran. Among 202 patients diagnosed with Hb H disease through a national study in Iran according to standard methods, we had access to the hematologic and clinical findings and genetic data of 101 patients in whom genetic study was performed.

Liver Mitochondrial DNA Copy Number and Deletion Levels May Contribute to Nonalcoholic Fatty Liver Disease Susceptibility.

Background: There is growing evidence that deficiencies observed in the mitochondrial DNA (mtDNA) functions could play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). We hypothesized that genetic variations in mtDNA could affect the mitochondrial function and contribute to the NAFLD susceptibility.

Objectives: In this study, the possible association of the mtDNA copy number and 4,977-bp deletion levels with NAFLD susceptibility in a sample of Iranian population was evaluated.