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. This study was conducted with the aim of investigating the ILD in patients with CVID. MATERIALS AND METHODS: In this retrospective cross-sectional study, sixty CVID patients who referred to the pulmonology and immunodeficiency clinics of Mofid Children's Hospital between 2013 and 2022 were included. The diagnosis of ILD were based on transbronchial lung biopsy (TBB) or clinical and radiological symptoms. The prevalence of ILD in CVID patients was determined. Also, the CVID patients with and without ILD were compared in terms of demographic characteristics, clinical, laboratory and radiologic findings. RESULTS: Among all patients, ten patients had ILD (16.6%). In terms of laboratory parameters, there was a significant difference between platelets in the two groups of CVID patients with and without ILD, and the level of platelets was higher in the group of patients with ILD. Moreover, in terms of clinical symptoms, pneumonia, diarrhea and hepatomegaly were significantly different between the two groups and were statistically higher in the group of patients with ILD (P < 0.05). Autoimmunity and malignancy were not significantly different in two groups. There was a significant difference in, hyperinflation between the two groups of CVID patients with and without ILD, and the frequency of, hyperinflation was higher in the patients without ILD (P = 0.040). CONCLUSION: Understanding the pathogenesis of ILD plays an essential role in revealing non-infectious pulmonary complications that occur in CVID patients. Increasing efforts to understand ILD not only shed light on its hidden pathogenesis and clinical features, but also enhance our understanding of CVID in a broader sense.

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. Previous research reveals a direct link between NAFLD genetic predictors and mitochondrial dysfunction. The emphasis on the D-loop stems from its association with impaired mtDNA replication, underscoring its crucial role in NAFLD progression. We included 38 Iranian NAFLD patients (comprising 16 patients with non-alcoholic fatty liver [NAFL] and 22 patients with non-alcoholic steatohepatitis [NASH]), with matched blood and liver tissue samples collected from each to compare variations in the mitochondrial D-loop sequence within samples. The mitochondrial DNA (mtDNA) D-loop region was amplified using PCR, and variations were identified through sequencing. The resultant sequences were compared with the reference sequence of human mtDNA available in the MITOMAP Database for comparative analysis. In this study, 97 somatic mutations in the mtDNA D-loop region were identified in NAFLD patients. Our study revealed significant difference between the NAFLD patients and control group in 13 detected mutations (P ≤ 0.05). Novel mutations were discovered in hepatic tissues, while mutation 16220-16221ins C was found in both tissues and blood. A significant difference was found in the distribution of D310 and mt514-mt523 (CA)n repeat variations between NAFLD patients and the control group (P < 0.001). C to T and T to C transitions were the prevalent substitution among patients. Identification of the 16220-16221ins C mutation in both blood and tissue samples from NAFLD patients holds substantial promise as a potential diagnostic marker. However, further research is imperative to corroborate these findings.

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. Several focus groups were conducted to establish a minimum data set (MDS) comprising six main classes, 14 sub-classes, and 187 data elements. Following expert consensus on the final data set, a web-based software tool was developed by the dedicated IT team, accessible online and offline via https://disreg.sbmu.ac.ir/q/ITP.html . The registry included children aged between two months and 18 years with a platelet count below 100 × 109/L, based on predefined inclusion criteria. RESULTS: Within a four-month period, a total of 60 ITP patients were registered, including 41 (68.3%) newly diagnosed cases, 68 (13.6%) persistent cases, and 14 (23.3%) with chronic ITP. The mean age of the registered patients was 55.93 ± 9.72 months. The most frequently observed bleeding symptoms were petechiae (68.3%), purpura (51.6%), and ecchymosis (13.3%). Among the newly diagnosed patients, 20 (33.3%) received intravenous immunoglobulin (IVIG), 17 (28.3%) were treated with prednisolone, and 17 (28.3%) received combined IVIG and steroid therapy. Of all patients, 40 (66.7%) demonstrated a complete response to treatment, while 16 (26.7%) exhibited a partial response. Four patients (6.7%) remained unresponsive to therapy. Treatment-related complications, such as Cushing's syndrome, edema, weight gain, hirsutism, and mood disorders, were reported in 10 patients (16.6%). However, the majority of patients (81.7%) did not experience therapy-related complications. CONCLUSION: The pilot phase of the NPITP registry successfully implemented a web-based software tool for data collection, aiming to enhance the quality of care, facilitate clinical research, and support health service planning in the future.

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. METHODS: In this clinical trial, five patients diagnosed with JDM and calcinosis lesions were enrolled. The primary treatment consisted of weekly infliximab injections for 16 weeks, targeting all four sides of each lesion. Lesion dimensions, including length and width, were documented and monitored weekly. Before the intervention, patients underwent radiographic imaging. After the final injection in week 16, a follow-up radiographic assessment was performed. Data were analyzed using the Generalized Estimating Equation (GEE) method. RESULTS: The lesions' size significantly decreased in both length and width during each visit. On average, the lesion length reduced by 2.66%, and the width shrank by 3.32% per visit. Based on radiographic findings, the average length and width of lesions at the initial visit were 12.09 ± 5.05 mm (range: 6.00-25.50 mm) and 6.35 ± 3.00 mm (range: 2.00-16.00 mm), respectively. The average length and width at the last visit were 5.59 ± 7.05 mm (range: 0-23.00 mm) and 3.41 ± 4.05 mm (range: 0-13.00 mm), respectively. No specific side effects related to the treatment were reported. CONCLUSIONS: The results suggest that the direct administration of infliximab into the calcinosis lesions of patients with JDM could be a safe and effective treatment approach. TRIAL REGISTRATION: Name of the registry: The effect of infliximab injection into calcinosis lesions on patients with juvenile dermatomyositis (JDM), Trial registration number: IRCT20210808052107N1, Registration date: 2022-07-22, URL of trial registry record: https://en.irct.ir/trial/58329 .

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. A focus group discussion was employed to identify users' selected keywords when searching for HSP. Additionally, keywords related to the disease's symptoms were selected based on recent clinical studies. All keywords were queried in GTr from January 1, 2012 to October 30, 2022. The outputs were saved in an Excel format and analyzed using SPSS. RESULTS: The highest and lowest search rates of HSP were recorded in winter and summer, respectively. There was a significant positive correlation between HSP search rates and the terms "joint pain" (P = 0.007), "vomiting" (P = 0.032), "hands and feet swelling" (P = 0.041) and "seizure" (P < 0.001). CONCLUSION: The findings were in accordance with clinical facts about HSP, such as its seasonal pattern and accompanying symptoms. It appears that the information-seeking behavior of Iranian users regarding HSP can provide valuable insights into the outbreak of this disease in Iran.

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

Background: 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. Objectives: 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. Methods: This study included 27 NAFLD patients (10 with nonalcoholic fatty liver (NAFL) and 17 with non-alcoholic steatohepatitis (NASH)) and ten healthy subjects. Total RNA and genomic DNA were extracted from liver tissue samples, and then mtDNA copy number and FGF21 expression levels were assessed by quantitative real-time PCR. Results: The relative level of hepatic mtDNA copy number was 3.9-fold higher in patients than in controls (p < 0.0001). NAFLD patients showed a 2.9-fold increase in hepatic FGF21 expression compared to controls (p < 0.013). Results showed that hepatic FGF21 expression was positively correlated with BMI, serum ALT, and AST levels (p < 0.05). The level of mitochondrial copy number and hepatic FGF21 expression was not significantly associated with stages of change in hepatic steatosis. Finally, there was a significant correlation between FGF21 expression and mitochondrial copy number in NAFLD patients (p = 0.027). Conclusion: Our findings suggest a considerable rise of hepatic FGF21 mRNA levels and mtDNA-CN and show a positive correlation between them in the liver tissue of NAFLD patients.