A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders

A Comparative Analysis of Clinical Characteristics and Laboratory Findings of COVID-19 between Intensive Care Unit and Non-Intensive Care Unit Pediatric Patients: A Multicenter, Retrospective, Observational Study from Iranian Network for Research in Viral

Introduction: To date, little is known about the clinical features of pediatric COVID-19 patients admitted to intensive care units (ICUs). Objective: Herein, we aimed to describe the differences in demographic characteristics, laboratory findings, clinical presentations, and outcomes of Iranian pediatric COVID-19 patients admitted to ICU versus those in non-ICU settings. Methods: This multicenter investigation involved 15 general and pediatrics hospitals and included cases with confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection based on positive real-time reverse transcription polymerase chain reaction (RT-PCR) admitted to these centers between March and May 2020, during the initial peak of the COVID-19 pandemic in Iran. Results: Overall, 166 patients were included, 61 (36.7%) of whom required ICU admission. The highest number of admitted cases to ICU were in the age group of 1–5 years old. Malignancy and heart diseases were the most frequent underlying conditions. Dyspnea was the major symptom for ICU-admitted patients. There were significant decreases in PH, HCO3 and base excess, as well as increases in creatinine, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), and potassium levels between ICU-admitted and non-ICU patients. Acute respiratory distress syndrome (ARDS), shock, and acute cardiac injury were the most common features among ICU-admitted patients. The mortality rate in the ICU-admitted patients was substantially higher than non-ICU cases (45.9% vs. 1.9%, respectively; p<0.001). Conclusions: Underlying diseases were the major risk factors for the increased ICU admissions and mortality rates in pediatric COVID-19 patients. There were few paraclinical parameters that could differentiate between pediatrics in terms of prognosis and serious outcomes of COVID-19. Healthcare providers should consider children as a high-risk group, especially those with underlying medical conditions

Comparison of Tuberculin Skin Test result and interferon gamma response to human PPD in BCG scar positive and negative children

Background: The aim of this study is to compare Tuberculin Skin Test (TST) result and interferon gamma response to human PPD (purified protein derivative), in scar positive and scar negative BCG-vaccinated children. Methods: Between August 2007 and May 2008 a total of 236 children aged 1–168 months (mean 21 months) admitted to Mofid Children’s Hospital, Tehran, Iran, were enrolled in a cross-sectional study. Each patient was examined for BCG vaccine scar and tested with TST and human PPD-based Interferon Gamma Release Assay (IGRA). Results: Two hundred and twenty one cases out of 236 (44% female, 1–168 months, mean age 21 months) were scar positive of whom 95% TST result was negative. Human PPD-based IGRA was positive in 110 (49.8%), negative in 85 (38.4 %) and indeterminate in 26 (11.8%) of scar positive patients. Fifteen children (40% female, 1–156 months; mean age 42 months) were scar negative. All the scar negative cases were TST negative. Human PPD-based IGRA was positive in 10 (66.7%), negative in 4 (26.7%) and indeterminate in 1 (6.7%) of scar negative patients. Conclusions: Immune responsiveness to human PPD antigens in scar positive and negative children may not correspond with results of the Tuberculin Skin Test

Phenotypic and genotypic characterization of Candida species isolated from candideamia in Iran

Background and Purpose: Candidemia is one of the most important fungal infections caused by Candida species. Infections and mortality caused by Candida species have been on a growing trend during the past two decades. The resistance of yeasts to antifungal drugs and their epidemiological issues have highlighted the importance of accurately distinguishing the yeasts at the species level. The technique applied for yeast identification should be fast enough to facilitate the imminent initiation of the appropriate therapy. Candidemia has not been studied comprehensively in Iran yet. Regarding this, the current study aimed to assess the epidemiology of candidemia at Tehran hospitals and compare the results with the previous findings. Materials and Methods: This study was conducted on 204 positive blood cultures obtained from 125 patients hospitalized in several hospitals located in Tehran, Iran, within a period of 13 months. The yeast isolation and species identification were accomplished using several phenotypic methods (i.e., production of germ tube in human serum, culture on CHROMagar Candida, and Corn meal agar containing Tween 80) and molecular methods, such as polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In addition, unknown cases were subjected to PCR sequencing. These methods were then compared in terms of accuracy, sensitivity, and speed of identification. Results: According to the results, C. albicans (62.4%) was the most common isolate, followed by C. parapsilosis (n=36, 17.5%), C. glabrata (n=18, 8.8%), C. tropicalis (n=13, 6.3%), Trichosporon asahii (n=3, 1.5%), C. kefyr (n=2, 1.0%), C. lusitaniae (n=2, 1.0%), C. intermedia (n=1, 0.5%), C. guilliermondii (n=1, 0.5%), and C. krusei (n=1, 0.5%), respectively. Conclusion: As the findings indicated, the most common species causing candidemia were C. albicans, C. parapsilosis, and C. glabrata, respectively. Children less than one year old and people with cancer were at higher risk for candidemia, compared to other groups. Moreover, phenotypic and molecular methods resulted in the identification of 65.2% and 96.6% of the isolates, respectively. Consequently, PCR-RFLP could be concluded as a more favorable technique for species identification

Assessment of a new algorithm in the management of acute respiratory tract infections in children

Objectives: To assess the practicability of a new algorithm in decreasing the rate of incorrect diagnoses and inappropriate antibiotic usage in pediatric Acute Respiratory Tract Infection (ARTI). Materials and Methods: Children between 1 month to15 years brought to outpatient clinics of a children′s hospital with acute respiratory symptoms were managed according to the steps recommended in the algorithm. Results: Upper Respiratory Tract Infection, Lower Respiratory Tract Infection, and undifferentiated ARTI accounted for 82%, 14.5%, and 3.5% of 1 209 cases, respectively. Antibiotics were prescribed in 33%; for: Common cold, 4.1%; Sinusitis, 85.7%; Otitis media, 96.9%; Pharyngotonsillitis, 63.3%; Croup, 6.5%; Bronchitis, 15.6%; Pertussis-like syndrome, 82.1%; Bronchiolitis, 4.1%; and Pneumonia, 50%. Conclusion: Implementation of the ARTIs algorithm is practicable and can help to reduce diagnostic errors and rate of antibiotic prescription in children with ARTIs

Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1

Background and Aim: Leukocyte adhesion deficiency type 1 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene. This gene encodes the CD18 subunit of β2 integrin leukocyte adhesion cell molecules. Leukocyte adhesion deficiency type 1 is characterized by recurrent bacterial infections, impaired wound healing, inadequate pus formation, and delayed separation of the umbilical cord. Materials and Methods: Blood samples were taken from 13 patients after written consent had been obtained. Genomic DNA was extracted, and ITGB2 exons and exon-intron boundaries were amplified by polymerase chain reaction. The products were examined by Sanger sequencing. Results: In this study, 8 different previously reported mutations (intron7+1G>A, c.715G>A, c.1777 C>T, c.843del C, c.1768T>C, c.1821C>A, Intron7+1G>A, c.1885G>A) and 2 novel mutations (c.1821C>A; p.Tyr607Ter and c.1822C>T; p.Gln608Ter) were found. Conclusions: c.1821C>A (p.Tyr607Ter) and c.1822C>T (p.Gln608Ter) mutations should be included in the panel of carrier detection and prenatal diagnosis