Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study.

Background: Niemann-Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. This study aimed to characterize the clinical features and treatment outcomes of NP-C in Iranian patients.

Methods: We conducted a cross-sectional study of 58 patients with NP-C diagnosed between March 2013 and March 2024 at Mofid Children's Hospital, Tehran.

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.

Background: The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. However, their prognosis is unclear due to rarity and lack of comprehensive treatment outcomes.

Methods: We evaluated clinical, immunological, and genetic abnormalities associated with 15 genetic entities of actinopathies.

Sensory neuropathy in patients with Pompe disease: a case series in Iran.

Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.

Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.

Interstitial lung diseases (ILD) in common variable immunodeficiency (CVID) patients: a study from Iran.

Introduction: Interstitial lung disease (ILD) is a prevalent complication in patients with common variable immunodeficiency (CVID) and is often related to other characteristics such as bronchiectasis and autoimmunity. Because the term ILD encompasses a variety of acute and chronic pulmonary conditions, diagnosis is usually based on imaging features. Histopathology is less available.

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.

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.

Local injection of infliximab into calcinosis lesions in patients with juvenile dermatomyositis (JDM): a clinical trial.

Background: Juvenile Dermatomyositis (JDM) is a rare autoimmune disorder that primarily affects muscles and skin. One of the severe complications associated with JDM is calcinosis, and treating this condition presents significant challenges. This study aimed to evaluate the efficacy and safety of local injection of infliximab into calcinosis lesions in patients with JDM.

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.

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.