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Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. However, other deficiencies are syndromic MSMD, defined by the combination of the mycobacterial infection with another, equally common, infectious, specific phenotypes. Herein, we described a series of 32 Iranian MSMD cases identified with seven distinct types of molecular defects, all of which are involved in the interferon gamma (IFNγ) immunity, including interleukin IL-12 receptor-β1 (IL-12Rβ1) deficiency (fifteen cases), IL-12p40 deficiency (ten cases), and IL-23R deficiency (three cases), as well as IFNγ receptor 1 (IFNγR1) deficiency, IFNγ receptor 2 (IFNγR2) deficiency, interferon-stimulated gene 15 (ISG15) deficiency, and tyrosine kinase 2 (TYK2) deficiency each in one case. Since the first report of two MSMD patients in our center, we identified 30 other affected patients with similar clinical manifestations. As the number of reported Iranian cases with MSMD diagnosis has increased in recent years and according to the national vaccination protocol, all Iranian newborns receive BCG vaccination at birth, early diagnosis, and therapeutic intervention which are required for a better outcome and also prevention of similar birth defects. Therefore, we investigated the clinical and molecular features of these 32 patients. The current report also defined novel classes of pathological mutations, further expanding our knowledge of the MSMD molecular basis and associated clinical manifestations.

Background and aims Respiratory infections are expressed very soon in the life in humoral immunodeficiencies and often lead to chronic irreversible complications such as bronchiectasis and chronic airflow limitation. This study was conducted to evaluate the pulmonary complications of predominantly antibody immunodeficiencies to show the benefits of timely diagnosis and appropriate therapy. Patients and methods The information of 48 patients involved with a type of predominantly antibody immunodeficiencies, including sex, type of primary immunodeficiency, age at the onset of symptoms, age at diagnosis, recurrent infections, respiratory symptoms, and pulmonary radiological and functional abnormalities were recorded and analyzed. Results In 48 patients evaluated, the mean age at diagnosis was 25.63 years. The mean diagnostic delay was estimated to be 13.62 years. The most recurring clinical manifestations, sinusitis (69.6%), otitis (43.5%), and recurrent pneumonia were the cause of frequent admissions in 68.8% of these patients. Bronchiectasis was frequently found (58.3%) in these patients mostly involving the middle and lower lobes (48.8% and 41.5%, respectively). Conclusions Respiratory complications, infectious or non-infectious, determine the prognosis of the disease in patients with predominantly antibody immunodeficiencies. Timely diagnosis and appropriate management may improve life expectancy and the quality of life in these patients.

Introduction Asthma exacerbations may occur due to a variety of triggers including respiratory viruses. The aim of this study was to determine the role of particular viral infections in asthma exacerbations in children. Materials and methods The study was performed at Dr. Daneshvari Hospital Pediatric Emergency Department, Shahid Beheshti University of Medical Sciences, Tehran, Iran between 2014 and 2015. A nasopharyngeal aspirate or swab was obtained from each patient during admission. All samples were maintained at 4 °C until submission to the virology laboratory and were tested for respiratory viruses by nucleic acid testing. Results A total of 60 patients with asthma exacerbations were recruited for this study. Of the 60 samples collected from the patients with acute asthma exacerbations, rhinovirus was detected in 12 patients (20%), respiratory syncytial virus in 5 (8%), adenovirus in 5 (8%), and influenza virus in 1 (1.6%). Respiratory pathogens were not detected in 37 (61%) samples. All the samples investigated showed single viral infection. Conclusions To conclude, the most common viruses detected were rhinovirus followed by respiratory syncytial virus (RSV) and adenovirus. RSV was more commonly associated with more severe attacks. Both the study design (e.g., time of sampling, age of the patients, etc.) and also the method used for viral detection influence the frequency of detection of the respiratory viruses.

Introduction: Cystic fibrosis is a chronic disease with multiple organ involvement and chiefly results in chronic respiratory infections, pancreatic insufficiency and associated complications. The age at diagnosis, clinical presentation, rate of disease progression and prognosis is variable among patients. This study is designed to evaluate the behavior of disease to provide epidemiologic data for early recognition and proper management. Material and methods: The study was designed as an active surveillance of 192 patients diagnosed with cystic fibrosis in a tertiary lung disease centre between 2008 and 2015. The diagnosis of cystic fibrosis was established in all patients accordingly to conventional criteria, including two positive sweat chloride tests and clinical signs and symptoms. Demographic, clinical and laboratory data were obtained from these patients in each hospitalization and also every follow-up visit and carefully evaluated for complications of this chronic disease. Results: The majority of patients showed positive culture for Pseudomonas aeroginosa. Bronchiectasis was the most prevalent finding in chest CT scan. 44.3% of patients had been treated for allergic bronchopulmonary aspergillosis and all had sinus disease. Increased pulmonary artery pressure was observed in 40% of patients with cystic fibrosis. 33 patients died which consisted 17.1% of all the patients.The mean age of mortaliy was 18.15 year. Conclusions: The clinical outcome of cystic fibrosis is variable in different countries which may reflect environmental influences and the role of early diagnosis on long term outcomes. However, the role of early diagnosis in long-term outcomes of the disease can not be ignored.

Background: Cystic fibrosis is a complex progressive disease which assessing its progression and severity is essential. For this purpose there are scoring systems available to evaluate the disease severity. Objectives: The aim of the present study was to determine the clinical status of CF patients using shwachman score system in the pediatric pulmonary ward of Masih Daneshvari Hospital. Patients and Methods: A cross-sectional study was conducted to evaluate the clinical status with shwachman score system. 23 patients ranging from 5 to23 years were enrolled in this study. All data was extracted objectively from Shwachman-Kulczycki scoring system. Results: The overall mean Shwachman-Kulczycki score was 53.48 ± 13.8. Total scores of < 40 (severe), 41-55, 56-70, and 71-85 were detected in 1.7%, 39.1%, 30.4% and 8.7% of patients respectively. None of the patients were categorized in the excellent range. We found no statistically significant correlation between mortality rate and clinical score (P = 0.136). However, the results showed a statistically significant correlation between mortality rate and Shwachman score, (P = 0.02). Conclusions: Shwachman-Kulczycki score is an easily applied scoring system which can reflect the clinical status of patients objectively. However, concurrent use of other evaluating tools such as pulmonary function test (PFT) and Computed tomography scoring systems provide a more robust monitoring and a reliable evaluation tool.

Background: Empyema in pediatric, if not treated adequately, would be an aggressive disease with many complications. Complete treatment of empyema includes broad antibiotics administration during the first week of the disease. However, in some cases, organized fibrinous tissue prevents antibiotic penetration and surgical intervention is required. Objectives: The aim of this study was to compare the duration of admission, duration of intravenous antibiotic therapy, time to response to treatment, and outcomes of medical and surgical interventions. Patients and Methods: In a retrospective, observational study, 60 patients with empyema were included; 35 were treated medically (medical group) and 25 surgically (surgical group). Results: Age and sex were not significantly different between the two groups. Only one of the patients in the medical group and one in the surgical group had immune deficiency. Coughing was presented in 25 patients in medical group and in 17 patients in surgical group as a symptom. Hospitalization days of were significantly lower in the medical group (12.4 ± 5.5) compared with the surgical group (20.4 ± 5.2) (P = 0.041). Duration of intravenous antibiotic therapy was not significantly lower in the medical group compared with the surgical group (P = 0.085). Time to response to treatment (from the admission day to the clinical improvement) was significantly lower in the medical group compared with the surgical one (P = 0.024). Mortality was 0% in both groups. Conclusions: If medical treatment gets started early in the course of empyema, prognosis would be excellent. Besides, there was no significant difference in short- and long-term outcomes between medical or surgical interventions.

Background: Congenital lung malformation (CLM) is a rare condition with high incidence of mortality and morbidity. CLM is often discovered incidentally on routine prenatal ultrasound or other postnatal imaging tests. Depending on the size of lesion and degree of functional impairment, prognosis is different. Today, fetal lung abnormalities are increasingly detected prenatally by ultrasound imaging. Objectives: This study aimed to evaluate the CLM cases in pediatric pulmonary ward of Masih Daneshvari Hospital during an 8-year period from 2002 to 2010. Materials and Methods: In a retrospective study, 21 patients (12 females, nine males), diagnosed with CLM, were enrolled. The mean age of participants was 7.3 years (ranging from 1 month to 16 years). All patients were histopathologically diagnosed with CLM and their demographic data including age, sex, and clinical signs and symptoms were recorded. To confirm the diagnoses and rule out the differentials, patients underwent bronchoscopy, angiography and other proper diagnostic procedures. Afterwards, they were divided into several subgroups based on the malformation and type of involvement, including agenesia, hypoplasia, aplasia, bronchogenic cyst, and sequestration. Results: We reported two agenesis, five hypoplasia, six aplasia, two bronchogenic cyst, and six sequestration cases. All patients were symptomatic at the time of diagnostic workup. The most common clinical signs and symptoms were respiratory distress and recurrent pulmonary infections. Conclusions: Considering the wide range of clinical manifestations from no clinical symptom to severe respiratory distress at birth, imaging including chest X-ray, CT scan with contrast and MRI are of great values for early diagnosis of CLM. Early diagnosis could provide a more appropriate timing of evaluation and treatment options, lower mortality and morbidity, and better prognosis.

Summary Background: The aim of this study is to find a relationship between the radiological manifestations of childhood tuberculosis on a high-resolution computed tomography (HRCT) and the results of sputum smear. This study aims to propose an alternative indicator of infectivity in terms of prevention of disease transmission through selective isolation policy in children whose clinical condition is highly suggestive of tuberculosis. Material/Methods: This retrospective comparative study was performed on 95 children under 15 years of age diagnosed with tuberculosis based on both WHO criteria and positive sputum culture for mycobacterium Tuberculosis. The children were admitted for TB screening in the pediatric department of national research institute of tuberculosis and lung disease (NRITLD) between 2008– 2012. Direct smear collected from sputum or gastric lavage, as well as HRCT were performed in all children prior to administration of medical therapy. Children were divided into 2 groups based on positive and negative smear results. HRCT abnormalities, as well as their anatomical distribution were compared between these 2 groups using multivariate analytic model. Results: The most prevalent abnormalities in the positive smear group were consolidation, tree-in-bud pattern, upper lobe nodular infiltration and cavitation. The negative smear group featured lymphadenopathy, consolidation, collapse and nodular infiltration in the upper lobe. Cavity, tree- in-bud pattern and upper lobe nodular infiltration were highly associated with smear positivity in children. Conversely, lymphadenopathy and collapse had significant association with a negative smear. Conclusions: This study revealed that cavity, tree-in-bud and upper lobe nodular infiltration has significant association with smear positivity in childhood tuberculosis. On the other hand, lymphadenopathy and collapse were closely associated with smear negativity in this age group. It was also demonstrated that children with a positive smear most likely presented with radiological features of post primary tuberculosis, while the negative smear group most often manifested with primary tuberculosis.

Early detection of tuberculosis (TB) cases and supervised treatment are vital for control of the disease. To assess TB transmission from a sputum smear-negative pulmonary TB case, the contacts of a 15-year-old Iranian girl diagnosed with smear-negative TB in 2010 were traced. In all, 52 classmates and close friends and 15 school staff were screened by tuberculin skin test and chest X-ray. Those with a positive skin test or abnormal chest X-ray were further evaluated by chest spiral computed tomography (CT) scan and triple gastric washing. All classmates and close friends were Iranian and female. Of the 52 girls, 17 (32%) had latent infection (either positive skin test or abnormal chest X-ray) and 3 (5.7%) had active TB (abnormal CT or positive culture additional to positive skin test or abnormal X-ray). None of the staff had abnormal findings. Contact tracing should be considered for contacts of all children with symptomatic pulmonary TB, even those who are smear-negative.