Echocardiographic estimation of pulmonary arterial and right atrial pressures in children with congenital heart disease: a comprehensive prospective study and introduction of novel equations.

Background: Pediatric pulmonary hypertension (PH) is characterized by a mean pulmonary arterial pressure exceeding 20 mmHg. There is limited research on the suitability of adult-based methods for estimating PH in pediatric populations. Using established formulas for adults, this study aimed to evaluate the correlation between echocardiographic estimates of systolic, diastolic, and mean pulmonary arterial pressures, and mean right atrial pressures in children with congenital heart disease (CHD).

Left ventricular function assessment in Kawasaki disease by two-dimensional global longitudinal systolic strain with automated function imaging.

Background: Kawasaki disease is an acute febrile vasculitis of childhood mainly affecting children under 4 years of age. In the acute stage of the disease, heart function decreases and gradually returns to normal after treatment. However, subendocardial involvement may persist, which cannot be assessed by M-mode echocardiography.

Multisystem inflammatory syndrome in children and Kawasaki disease; comparison of their clinical findings and one-year follow-up-a cross-sectional study.

Background: Studies on Multisystem Inflammatory Syndrome in Children (MIS-C) and Kawasaki Disease (KD) have yielded inconsistent results and are lacking in Asian and African countries. This study aimed to compare the laboratory and clinical features, short-term outcomes, and one-year follow-ups of a large cohort of MIS-C and KD patients.

Methods: Data from 176 MIS-C and 56 KD patients admitted to Tehran Children's Medical Center between January 2021 and January 2022 were collected.

The role of nailfold capillaroscopy in pediatric patients with Kawasaki disease.

Background: Nailfold capillaroscopy has been used as a non-invasive diagnostic method for microvasculature evaluation in various rheumatological disorders. The present study aimed to determine the utility of nailfold capillaroscopy in the diagnosis of Kawasaki Disease (KD).

Method: In this case-control study nailfold capillaroscopy was performed in 31 patients with KD and 30 healthy controls.

Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.

Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients.

Intravenous Methylprednisolone Pulse Therapy Versus Intravenous Immunoglobulin in the Prevention of Coronary Artery Disease in Children with Kawasaki Disease: A Randomized Controlled Trial.

Background: Kawasaki disease (KD) is often complicated by coronary artery lesion (CAL), including dilatation or aneurysms. Intravenous immunoglobulin (IVIG) is used with aspirin to prevent CAL in KD.

Objective: Given that the primary treatment for other vasculitis is the use of corticosteroids, this study has been performed to evaluate the effect of intravenous methylprednisolone pulse (IVMP) therapy in preventing CAL in KD.

A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a rare disorder that affects both upper and lower motor neurons. Mutations in Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) correlates with three similar but distinctive syndromes, including the juvenile form of ALS. An Iranian Kurdish family was involved in this study and all members were evaluated with relevant clinical guidelines.

Color tissue doppler imaging of tricuspid annular plane systolic and diastolic excursion in children: A comparison of normal, volume-overloaded and pressure overloaded right ventricles.

Background: Tricuspid annular plane (TAP) systolic excursion (TAPSE) is a reproducible M-mode parameter for the measurement of longitudinal shortening of the right ventricle (RV). To date, all attention has been focused on the systolic excursion of TAP and the diastolic excursion of the annular plane back to the base has been ignored. This study aims to compare the quantitative (excursion, slope, and duration) and qualitative (velocity, acceleration, and indentation) characteristics of TAP systolic and diastolic excursion, using color tissue Doppler imaging, in three groups of children with normal RV (NORV), volume overloaded RV (VORV), and pressure overloaded RV (PORV) and normal pulmonary arterial pressure.

Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients.

Background: Congenital heart disease CHD is a significant cause of mortality and morbidity in children worldwide. Patients with congenital heart disease may develop hematological problems, including thrombocytopenia and neutropenia. In addition, several studies indicate the higher frailty of patients with CHDs to infections and malignancies.

COVID-19: A New Horizon in Congenital Heart Diseases.

Previous studies have demonstrated that both children and adult patients with a history of congenital heart disease (CHD) are at high risk for coronavirus disease 2019 (COVID-19) infection. This study investigates the status of COVID-19 infection among children undergoing surgical repair within the past 2 years. All alive patients operated on in a tertiary referral center between March 2018 and March 2020 were recruited in the present study.

Little Hearts Are Affected by COVID19: Importance of the Myocardial Systolic Evaluation.

Identifying the cardiac changes could help design measures to recover the cardiovascular system and lessen the mortality and morbidity rate. Accordingly, this cross-sectional study was performed to evaluate the echocardiography indices which are indicators of the cardiac alterations of the children with COVID19 infection. This study was performed as a cross-sectional study evaluating echocardiography indices in children infected with COVID19.

Giant intracardiac thrombosis in an infant with leukaemia and prolonged COVID-19 viral RNA shedding: a case report.

Background: COVID-19 can induce thrombotic disease both in the venous and arterial circulations, as a result of inflammation, platelet activation, endothelial dysfunction, and stasis. Although several studies have described the coagulation abnormalities and thrombosis in adult patients with COVID-19, there is limited data in children. Here, we present an 18-month-old boy with a prolonged SARS-CoV-2 RNA shedding and chronic right atrial and superior vena cava (SVC) thrombosis.

An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis.

Interferon-β (IFN-β) is among the first drugs used for reducing the symptoms of multiple sclerosis (MS). Many studies show that the genetic predisposition of patients might modulate their response to IFN-β treatment. In this study GAPVD1 gene expression and the genotyping of rs2291858 variant were analysed in 100 responder and 100 non-responder patients with MS treated using IFN-β.

LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.

Introduction Schizophrenia is recognized as one of the most important mental illnesses of the last century. Many genetic and environmental factors are involved in this condition. Recently, the genome-wide association study identified two significant genes LRP8 and CEP85L associated with psychiatric disorders.

Giant Thrombosis at Left Anterior Descending Artery Aneurysm in a 10-Year Old Boy with Granulomatosis with Polyangiitis.

Granulomatosis with polyangiitis (GPA), necrotizing vasculitis of small and medium-sized vessels, is traditionally believed to mainly affect respiratory tract with additional focal kidney involvements as its primary manifestations with a relatively rare annual incidence rate of 20-50 cases per million. Six percent of the affected cases have cardiac involvements; among which, aneurysms comprise the lowest penetrance. By this paper, we aim to cast light on clinical diagnostic and treatment methods of a rare case presentation, a 10-year-old male GPA patient, diagnosed with massive thrombosis at his coronary artery aneurysm.

Increased QT Interval Dispersion is Associated with Coronary Artery Involvement in Children with Kawasaki Disease.

Objectives: Coronary artery (CA) involvement is the most well known complication of Kawasaki disease (KD). Previous studies have suggested that QT dispersion has a predictive value in diagnosing cardiac ischemia, ventricular arrhythmia, and sudden cardiac death. However, limited data exits regarding the application of QT dispersion in KD.

Pulmonary artery-focused contrast echocardiography with supplemental oxygen(PCESO) for echocardiographic diagnosis of anomalous origin of left coronary artery from pulmonary artery: Novel use of an old technique.

Pulmonary artery-focused agitated saline contrast echocardiography unveils tricky cases of ALCAPA by the entry of microbubbles into the left coronary artery (LCA) during systole and retrograde flow from LCA into the main pulmonary artery during diastole. Associated pulmonary hypertension, if present, augments the former flow and supplemental oxygen increases the latter.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

Objective: Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20% of birth defects are due to chromosomal and genetic conditions. Inspired by the fact that neonatal deaths are caused by birth defects in about 20 and 10% of cases in Iran and worldwide respectively, we conducted the present study to unravel the role of chromosome abnormalities, including microdeletion/microduplication(s), in multiple congenital abnormalities in a number of Iranian patients.

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway.

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.

Recent achievements in the genetic diagnosis of Dilated Cardiomyopathy (DCM) have disclosed rare variants in numerous genes encoding different types of myocardial proteins. However, the causative gene underlying the pathogenesis of about 60% of familial cases with DCM has not been identified. One novel gene introduced in 2016 for cardiac-restricted DCM is FLNC.