Echocardiographic assessment of cardiovascular involvements in children with cystic fibrosis.

BACKGROUND: Over the past four decades, numerous case reports and clinical studies have highlighted the presence of heart disease in individuals with cystic fibrosis. Given the limited information in this field and the imperative to identify early changes during childhood, our study aims to explore cardiac dysfunction in patients with cystic fibrosis using echocardiography. METHODS: In this case-control study, we examined echocardiographic findings from thirty-three patients with cystic fibrosis and sixty healthy children. Demographic information for both groups was recorded, and the disease severity in patients was assessed using the Schawachman criterion. M-mode, Doppler flow velocity, and Tissue Doppler Imaging echocardiography were performed for all participants, with subsequent data analysis using SPSS 24. RESULTS: Our study encompassed thirty-three CF patients and sixty healthy children. The estimated pulmonary artery blood pressure (systolic and mean) in patients with cystic fibrosis was significantly higher than in the control group (P < 0.05). Additionally, the mean trans-tricuspid peak early to late diastolic flow velocity (E/A) was significantly lower in the case group than the control group (P < 0.05), along with a significantly lower mean tricuspid valve deceleration time (DT) (P < 0.05). Similarly, the mean TAPSE in the case group was notably lower than in the control group (P < 0.05). No significant difference in Mean left ventricular Ejection Fraction (EF) and Fractional Shortening (FS) existed between the two groups (P > 0.05). Furthermore, Trans-mitral peak early to late diastolic flow velocity (E/A) in the case group was significantly lower than in the control group (P < 0.05), and the mean mitral valve DT in the case group was also significantly lower (P < 0.05). CONCLUSION: Our study findings indicate the presence of some degree of right ventricular dysfunction in children with cystic fibrosis. This finding may have implications for the development or modification of clinical guidelines for managing cystic fibrosis in children. Further investigations are recommended to elucidate the underlying mechanisms and contributing factors, providing valuable insights for clinical management.

Assessment of Cystic Fibrosis Distribution Based on Air Pollution by Geographical Information System (GIS).

Background: It is widely accepted that concerns have been recently raised regarding the impact of air pollution on the health of children with cystic fibrosis (CF). Air pollution probably affects the exacerbation of CF and its laboratory findings. On the other hand, the World Health Organization (WHO) has asked all countries to update their data and reports on the distribution and prevalence of CF in different areas. The purpose of the present study was to investigate the distribution and prevalence of CF based on the levels of atmospheric pollutants, such as PM10, PM2.5, SO2, NO2, CO, and O3 in 22 zones of Tehran, and to report the abnormal laboratory findings that might indicate the exacerbation of CF. Materials and Methods: The studied statistical population included children with CF referred to Masih Daneshvari Hospital from 2003 to 2020. Demographic data, location of living area, and laboratory findings were extracted from patient records. The geographic information system (GIS) was applied to indicate the distribution and dispersion of the disease. The information related to air pollutants was collected from all stations in Tehran during the studied period by the Department of Environment of Tehran Province, and the average levels were used for final reporting. Results: The analysis results on 287 CF patients demonstrated that the risk of disease exacerbation significantly increased by the presence of air pollutants. In areas with multiple air pollutants, more laboratory findings were observed to be abnormal, and the lower survival rate for patients with CF was recorded. Investigating the CF distribution pattern based on climatic layers and above mean sea level (AMSL) indicated that distribution of the disease was higher in dry areas with lower AMSL and the higher volume of the atmospheric pollutants, which were primarily centralized in southern and central Tehran. Conclusion: Environmental factors, such as air pollution, can be considered vital parameters, along with high-risk factors, such as pure and integrated race, migration, and mutation, influencing the prevalence and exacerbation of CF symptoms. Considering the higher prevalence of CF in deprived areas of Tehran, households' cultural and economic level appears to be a factor in the lack of diagnostic screening and prevention of CF in these areas. On the other hand, continuous monitoring of the air pollution caused by traffic and giving warnings to CF patients and their parents is particularly important.

Nurses' Knowledge Regarding Oxygen Therapy; a Cross-Sectional Study.

Introduction: Oxygen therapy, if done correctly, can save patients' life promptly. However, improper use will be just as dangerous. The present study aimed to investigate the level of nurses' knowledge on properly using oxygen. Method: This was a cross-sectional study with a minimum sample size of 72 nurses who were randomly selected from various wards of Masih Daneshvari Hospital, Tehran, Iran. To determine the level of knowledge about oxygen therapy, a questionnaire was used to collect data. This questionnaire consists of seven items, each of which is designed to determine the level of the individual's knowledge about the various details of oxygen therapy. Results: Seventy-eight nurses with the mean age of 35.80±7.42 years participated in the study (87% female). The mean knowledge score of nurses regarding oxygen therapy was 8.89 ± 2.79 out of 16 points. 84.6% of the nurses were able to differentiate various types of oxygen masks. Accordingly, 94.9% of nurses had good knowledge on oxygen humidification. Also, 50% of the nurses had sufficient knowledge about the amount of oxygen flow produced by different masks. 10.3% of the nurses could choose the most appropriate mask for different clinical conditions. 6.4% of the nurses had knowledge of working with flowmeters, and 15.4% of the nurses had sufficient information about the maximum level of oxygen required for the patient. 17.9% of the nurses were familiar with measuring the appropriate amount of oxygen for patients. There was no statistically significant relationship between age (p = 0.57), gender (p = 0.09), employment status (p = 0.38), workplace (p = 0.86), current position (p = 0.11), degree (p = 0.27), and graduation time (p = 0.58) of nurses with good knowledge of using oxygen. However, a statistically significant relationship was reported between nurses' related work experience and their knowledge of the proper use of oxygen (p = 0.03). Conclusion: In general, the nurses' knowledge at Masih Daneshvari Hospital on how to properly use oxygen is at a moderate level. Nurses' knowledge in some areas, such as working with the flowmeter, choosing the suitable mask for specific clinical conditions, and the maximum oxygen required for patients, is meager and requires training intervention.

Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.

BACKGROUND: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs. METHODS: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable. RESULTS: Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD). . Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups. CONCLUSIONS: Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities.

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-year-old boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.

Pulmonary Alveolar Proteinosis in Children: Diagnosis and Treatment Outcomes.

Background: 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%). Materials and Methods: 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. Results: 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. Conclusion: 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.

Inflammatory Markers in the Serum and Bronchoalveolar Lavage in Children with Non-Cystic Fibrosis Bronchiectasis.

Background: It is known that inflammatory responses occur in the airways of patients with non-cystic fibrosis bronchiectasis during respiratory exacerbations but the role of these cytokines is not clear in this condition. Herein we evaluated the levels of interleukin-1ß (IL-1ß), IL-8 and tumor necrosis factor α (TNF-α) in the serum and bronchoalveolar lavage among children with non-cystic fibrosis bronchiectasis. Materials and Methods: This cross-sectional study was performed on all children with non-cystic fibrosis bronchiectasis who were admitted with respiratory exacerbation in the pediatric pulmonology ward of Masih Daneshvari Hospital, Tehran-Iran. All patients underwent fiberoptic bronchoscopy and spirometry before and after the bronchoscopy. IL-1ß, IL-8, and TNF-α levels were measured in the serum and bronchoalveolar lavage. Results: Patients included 10 (59%) female and 7 (41%) male subjects with mean age of 13.8 years (range, 5-18). Mean values for forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) were below the normal range before and after bronchoscopy. Mean value for FVC (from 55% to 63%, P= 0.01) and FEV1 (from 60% to 64%, P= 0.26) increased after bronchoscopy compared to before that. IL-1ß and IL-8 levels were increased and TNF-α level was decreased in the serum and bronchoalveolar lavage but no significant correlation was found between spirometry and these cytokines levels. Conclusion: Changes in inflammatory cytokines levels in serum and bronchoalveolar lavage during respiratory exacerbation in patients with noncystic fibrosis bronchiectasis have no significant correlation with spirometry and cannot be used in clinical practice.

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

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-ß1 (IL-12Rß1) 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.

Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations. In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, adrenal insufficiency, and candidiasis as the main clinical manifestation.

Evaluation of Quality of Life in Terms of Sinonasal Symptoms in Children with Cystic Fibrosis.

Objective Sinusitis is a common complaint in children with cystic fibrosis. However, the actual prevalence of chronic rhinosinusitis and its effect on the quality of life of children have not been well considered. Therefore, the objective of this study was to determine the effect of sinonasal quality of life in children with cystic fibrosis. Materials and methods This study was a diagnostic study performed on 80 children with cystic fibrosis ranging from 2 to 20 years old, who were referred to the cystic fibrosis clinic of Masih Daneshvari Hospital from 2017-2018. The questionnaires used in this study were chronic rhinosinusitis screening questionnaire based on the European task force and the evaluation of the sinonasal quality of life was based on the SN-5 survey. Results Of the 80 patients with fibrosis from 2 to 20 years old who were recruited in the study, 41 patients were female (51.3%) and 39 were male (48.8%). In 61 cases (76.3%), there was no chronic rhinosinusitis and 19 cases (23.8%) had chronic rhinosinusitis. The mean SN-5 score in 19 patients with chronic rhinosinusitis was 3.4105 and the mean score of patients without rhinosinusitis was 1.8426, with a P-value of 0.000. The mean SN-5 score was significant between the two groups. In patients with nasal congestion, there was a significant difference in quality of life factors such as sinus infection, nasal obstruction, and allergy symptoms (P<0.001). In patients with facial pain, there was a significant difference in quality of life factors such as sinus infection, nasal obstruction, allergic symptoms, and physical activity limitation (P <0.001). There was also a significant difference in the quality of life factors such as sinus infection, nasal obstruction, and allergy symptoms in patients with postnasal drip (P <0.001). Conclusion In children with cystic fibrosis, the quality of life of sinonasal has a significant relationship with absence of chronic rhinosinusitis. This study showed that children with chronic renosinusitis have significantly lower quality of sinonasal life than children with chronic rhinosinusitis. The results demonstrated that quality of life scores in sinus infections, nasal obstruction, and allergy symptoms were significantly higher in patients with chronic rhinosinusitis than in those without chronic rhinosinusitis. The findings of this study are important for improving children's health related quality of life, as it leads to promoting communication between the patient and the health care provider, identifying overlooked problems, monitoring the progress of the disease and the burden of treatment, and promoting interventions in the daily life of patients.

Synbiotics and Treatment of Asthma: A Double-Blinded, Randomized, Placebo-Controlled Clinical Trial.

BACKGROUND: We examined the efficiency and safety of a specific synbiotic compound, brand name Kidilact®, in the treatment of asthma in children 12 years of age or younger. MATERIALS AND METHODS: This double-blinded, randomized, placebo-controlled clinical trial was conducted in Tehran, Iran, from May 22, 2016, to May 21, 2017. One hundred children, 12 years of age or younger, who suffered from mild to moderate asthma were recruited in this study. The subjects were randomly divided into two groups; the experimental group received a sachet of Kidilact®, and the control group received a sachet of placebo once a day for six months. Both groups were compared in terms of the frequency of asthma attacks that were severe enough to require administration of fast-acting medications, the number of outpatient visits for asthma-related problems, and the frequency of hospitalization due to exacerbated symptoms of asthma. RESULTS: There were fewer complaints of drug-induced side effects, e.g., vomiting, headache, stomachache, and diarrhea, exacerbated cough, and constipation in the experimental group than in the control group. Overall, a significantly greater number of participants in the experimental group were satisfied with the therapeutic intervention than those in the control group, as verified by the participants and their parents/guardians self-report. There was no significant difference between both groups in the frequency of asthma attacks and hospitalization due to exacerbated symptoms of asthma. The only significant difference between both groups was the count of outpatient visits. While the control group made 55 outpatient visits to the hospital, participants in the experimental group visited the hospital only 19 times (P=0.001). CONCLUSION: Results of our study indicates that synbiotic compound Kidilact® generally alleviates the symptoms of asthma in children of 12 years of age or younger, resulting in less frequent outpatient visits to the hospital due to asthma-related problems while rarely causing any side effects. Due to ease of use, the rarity of side effects, and their indirect positive effects on quality of life of asthmatic patients, we recommend that synbiotics be incorporated in regular treatment and management of children with asthma.

Pulmonary complications of predominantly antibody immunodeficiencies in a tertiary lung center.

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.

Association of specific viral infections with childhood asthma exacerbations.

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.

A new ataxia-telangiectasia mutation in an 11-year-old female.

Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer. The subject died as a result of rapid B-cell lymphoma progression before chemotherapy could be initiated. This case highlights the need for the rapid diagnosis of A-T mutations and the detection of associated life-threatening outcomes such as cancers.