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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.

Pulmonary Alveolar Proteinosis (PAP) is an uncommon pulmonary disease characterized by the accumulation of surfactant composed of proteins and lipids due to disruption of surfactant clearance by alveolar macrophages. The current standard treatment is lung lavage. There are no specific criteria for lavage, but in case of observing these signs it is recommended to perform lavage for the patient: progressive respiratory failure, no labored breathing at rest, and drop in oxygen level during activity (5%).In this study, patients with PAP admitted to Pediatric ward of Masih Daneshvari Hospital were studied. The required data were collected including the patient's demographic data, clinical signs and radiographic data, the number of admissions, the age of diagnosis, detection and treatment methods, number of lavage, current condition of the patient, and in case of death, the cause of death.In this study, 17 patients with PAP who were admitted during the past 15 years were examined; among which 7 patients were boys (41.2%) and 10 were girls (58.8%). The mean age of population was 11.79±7.21 years. Transbronchial Lung Biopsy (TBLB) (47.1%) and open lung biopsy (52.9%) were used for diagnosis of patients. Lung lavage was used to treat patients, 15 of whom were treated by this method. Five of the patients died because of their serious conditions.Therapy method in the present study was lavage for both lungs, and it was performed for all patients except for two patients due to their anatomical complications. This method is still considered as the gold standard for PAP. Considering the findings from previous studies and the present study, it seems that Whole Lung Lavage (WLL) was fruitful for patients who had the indication for using this therapy and it played a significant role in improving the prognosis of patients. Besides, it is recommended to do follow-up regularly in order to have more therapeutic efficacy and increased patient longevity.

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.

Article type: Original Article Background: Cystic fibrosis (CF) is a genetic disease with an autosomal recessive pattern of inheritance. CF caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and characterized by impaired transport of chloride ions across the cell membrane. Staphylococcus aureus, Pseudomonas aeruginosa, and Burkholderia cepacia have been identified in the cultures of respiratory secretions of CF patients, and infections of these microorganisms are associated with high rates of morbidity and mortality. In patients with CF, severe inflammation of the airway can cause advanced bronchiectasis, which may result in respiratory failure and death. Objectives: This study aimed at evaluating the clinical findings of laboratory tests, bacterial colonization, and drug resistance in children and young adults with CF who hospitalized at the Pediatric Pulmonary Department of Masih Daneshvari Hospital, Tehran, Iran.

Chronic granulomatous disease is a rare primary immunodeficiency disorder, which leads to increased susceptibility to recurrent infections and severe inflammatory manifestations. There have been reports regarding different aspects of genitourinary involvement in chronic granulomatous disease, some of which are hydronephrosis, granulomatous cystitis, and glomerulonephritis, but among these complications, amyloidosis is rather rare. We report a patient with chronic granulomatous disease that developed amyloidosis later in the course of the disease.

Wstęp: Mukowiscydoza jest wielonarządową chorobą przewlekłą, której głównymi następstwami są infekcje układu oddechowego, niewydolność trzustki i inne pokrewne powikłania. Wiek w czasie rozpoznania, przebieg kliniczny, tempo progresji i rokowanie są różne u różnych chorych. Celem prezentowanego badania była ocena przebiegu choroby i wpływu uwarunkowań epidemiologicznych na wczesne rozpoznanie i właściwe leczenie. Materiał i metody: Przeprowadzono aktywną ocenę prospektywną 192 chorych na mukowiscydozę, leczonych w ośrodku referencyjnym w latach 2008–2015. U wszystkich chorych rozpoznanie mukowiscydozy postawiono na podstawie obowiązujących kryteriów, w tym stwierdzenia dwóch dodatnich wyników potowego testu chlorkowego oraz obecności typowych objawów klinicznych. Dane demograficzne, kliniczne i laboratoryjne uzyskiwano od pacjentów podczas kolejnych hospitalizacji i wizyt kontrolnych. Dane te były szczegółowo oceniane pod kątem powikłań choroby podstawowej. Wyniki: U większości chorych stwierdzono dodatni wynik hodowli plwociny w kierunku Pseudomonas aeroginosa. Rozstrzenia oskrzeli były najczęściej występującym objawem w badaniu tomograficznym klatki piersiowej. W badanej grupie 44.3% chorych było leczonych z powodu alergicznej aspergilozy oskrzelowo-płucnej a u wszystkich chorych stwierdzono chorobę zatok przynosowych. Podwyższone ciśnienie w tętnicy płucnej stwierdzono u 40% chorych na mukowiscydozę. Zmarło 33 chorych, co stanowi 17.1% badanej grupy. Średni czas przeżycia wynosił 18.15 roku. Wnioski: Wyniki leczenia chorych na mukowiscydozę są różne w różnych krajach, co może odzwierciedlać wpływy środowiska, a także znaczenie wczesnego rozpoznania dla odległego rokowania. Znaczenie wczesnego rozpoznania dla odległych wyników leczenia nie powinno być lekceważone.

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.

Assessing the prognosis of cystic fibrosis (CF) and evaluating the effect of indicators of mortality is very important in predicting the life expectancy of the CF patients.Determining the effect of seven variables including sex, Forced Expiratory Volume in one second (FEV1), Body Mass Index (BMI), bacteriology, hemoglobin (Hb), pulmonary arterial pressure (PAP) and the number of previous admissions on the survival of 27 patients admitted in Pediatric Pulmonary Ward of Masih Daneshvari Hospital in 2007-2009.27 CF patients were enrolled in a retrospective cross-sectional study. Patients data were collected during 2 years of study. Data of patients who died and those who remained alive were compared by independent samples t-tests and Chi-square.Twenty seven CF patients (11 female, 10 male) with age range of 5-19 years and mean age of 13.11 +/- 4.69 were studied. There was no difference in age, sex, FEV1, BMI, Hb between the deceased and alive group (p0.05). Mean PAP for expired patients and alive patients was 40 +/- 15.1 and 68 +/- 11.5 respectively. The number of admissions during last 6 months was dominant in those patients who died. 50% of the alive patients were colonized with Pseudomonas. This is compared to deceased patients which 100% were colonized with Pseudomonas. There was a strong correlation between death and number of previous admissions, PAP and Pseudomonas infection (p0.05).Pseudomonas infection, number of previous admissions and the severity of pulmonary hypertension has shown to be the major predictors of mortality in our study.

Human bocavirus (hBoV) was first discovered in respiratory samples from children in 2005, and has been classified in the Parvoviridae family. hBoV has also been detected in children with acute gastroenteritis. This study was performed to analyze the frequency and phylogeny of hBoV in the respiratory and stool samples of children with acute respiratory tract illnesses and gastroenteritis during the time period beginning 2006 and ending 2008, at the Virology Research Centre, Masih Daneshvari Hospital, NRITLD, Tehran, Iran. Respiratory and stool samples were screened for hBoV by nested polymerase chain reaction with primers from the NS-1 gene. Nine out of 133 respiratory samples (6.8%) and 6 out of 47 stool samples (12.8%) were positive for hBoV. Ten positive samples (7 respiratory and 3 stool samples) were subjected to phylogenetic analysis by sequencing a fragment of the VP1/VP2 gene junction. The results showed a high similarity among isolates (or=99%). It was found that hBoV isolates can be divided into 3 genetic groups.