Primary ciliary dyskinesia in six patients with bronchiectasis

INTRODUCTION: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. MATERIAL AND METHODS: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. RESULTS: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. CONCLUSIONS: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD.INTRODUCTION: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. MATERIAL AND METHODS: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. RESULTS: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. CONCLUSIONS: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD

First Cystic Fibrosis Patient Registry Annual Data Report - Cystic Fibrosis Foundation of Iran

Cystic fibrosis (CF), as a fatal genetic condition, is associated with high morbidity and mortality rates. In Iran, limited studies exist on this disease. This study aims to compare the demographic, clinical and paraclinical data of CF patients. This cross-sectional study was conducted in 2014-2015 on 174 CF patients referred to the Tehran Children Medical Center hospital, which is the main referral center for CF. For each patient, the forced  expiratory volume in one second (FEV1) was measured and the comparative demographic, clinical and laboratory data of patients were recorded. Overall, 59% of studied patients were boys (n=102) and 41% were girls (n=72). The mean patient age (and standard deviations) was 7.1 ±5.7 years, with a range of 10 days to 28 years. In 67% of cases, the disease was diagnosed before their first birthday. The patients in this study were classified based on the FEV1 into mild (62%), moderate (33%) and sever (5%), indicating the degree of pulmonary complications. Cultures of respiratory secretions were positive for Pseudomonas aeruginosa and Staphylococcus aureus, in 23% and 16% of cases, respectively. In total, 61% of patients (n=83) were assigned to receive oral azithromycin for prophylaxis. Gastroesophageal reflux (reflux) was the most common gastrointestinal complication (35%), Regarding the complex nature of CF and the necessity of constant monitoring of patients during the life-span, the comparative demographic, clinical and laboratory analysis of patients and registering and standardization of patients’ data, can be a major step in the better understanding of the disease, and thereby increasing the quality of life and life expectancy in the affected population

An unusual site of a pericardial cyst in a child: A case report

Pericardial cysts are rare congenital anomalies, often clinically silent and incidentally found on imaging. However, patients with pericardial cysts may present with chest pain, tachypnea, and, rarely, symptoms secondary to cardiac tamponade. Echocardiography (transthoracic or transesophageal) and chest computed tomography (CT) scan with contrast are diagnostic modalities of choice in patients with pericardial cysts. Conservative management is justified in asymptomatic patients, while a surgical approach is recommended in symptomatic patients. Here, we describe the case of a 12-year-old boy who underwent imaging during the coronavirus disease 2019 (COVID-19) pandemic and was incidentally found to have a pericardial cyst

Pierwotna dyskineza rzęsek u sześciu chorych z rozstrzeniami oskrzeli

WSTĘP: Pierwotna dyskineza rzęsek (PCD) to rzadka choroba uwarunkowana genetycznie, o autosomalnym recesywnym dziedziczeniu. We wcześniejszych badaniach opisywano różną częstość występowania PCD u chorych z rozstrzeniami oskrzeli. MATERIAŁ I METODY: Do badania włączono 6 chorych z PCD rozpoznaną w czasie wcześniejszego badania obejmującego 40 chorych z rozstrzeniami oskrzeli. Przeprowadzono badania ultrastrukturalne nabłonka oddechowego oraz rzęsek. Deformacje widoczne w szczegółowych obrazach z mikroskopu elektronowego potwierdziły rozpoznanie PCD. WYNIKI: U 4 chorych pierwsze objawy pojawiły się krótko po urodzeniu, u jednego w wieku 12 miesięcy, a u kolejnego w wieku 4 lat. Poza jednym chorym, u którego ustalono rozpoznanie 2 miesiące od rozpoczęcia choroby, u wszystkich pozostałych diagnoza była opóźniona o ponad 5 lat. Rodzice wszystkich chorych byli spokrewnieni. U wszystkich uczestników badania stwierdzono zakażenia górnych dróg oddechowych. WNIOSKI: U chorych z rozstrzeniami oskrzeli należy podejrzewać PCD jako chorobę podstawową. Przebyte zapalenie ucha środkowego lub występowanie podobnych objawów u członków rodziny powinno wzbudzić podejrzenie w kierunku PCD.WSTĘP: Pierwotna dyskineza rzęsek (PCD) to rzadka choroba uwarunkowana genetycznie, o autosomalnym recesywnym dziedziczeniu. We wcześniejszych badaniach opisywano różną częstość występowania PCD u chorych z rozstrzeniami oskrzeli. MATERIAŁ I METODY: Do badania włączono 6 chorych z PCD rozpoznaną w czasie wcześniejszego badania obejmującego 40 chorych z rozstrzeniami oskrzeli. Przeprowadzono badania ultrastrukturalne nabłonka oddechowego oraz rzęsek. Deformacje widoczne w szczegółowych obrazach z mikroskopu elektronowego potwierdziły rozpoznanie PCD. WYNIKI: U 4 chorych pierwsze objawy pojawiły się krótko po urodzeniu, u jednego w wieku 12 miesięcy, a u kolejnego w wieku 4 lat. Poza jednym chorym, u którego ustalono rozpoznanie 2 miesiące od rozpoczęcia choroby, u wszystkich pozostałych diagnoza była opóźniona o ponad 5 lat. Rodzice wszystkich chorych byli spokrewnieni. U wszystkich uczestników badania stwierdzono zakażenia górnych dróg oddechowych. WNIOSKI: U chorych z rozstrzeniami oskrzeli należy podejrzewać PCD jako chorobę podstawową. Przebyte zapalenie ucha środkowego lub występowanie podobnych objawów u członków rodziny powinno wzbudzić podejrzenie w kierunku PCD

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Introduction: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. Material and methods: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. Results: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. Conclusions: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD

The Prevalence of Obesity, Technological Device Usage, Physical Activity and their Relationship with Spirometry Indicators among Children in Isfahan City, Iran

Background: The decrease in physical activities following increased usage of computer and digital games has led to serious health consequences in children. This study investigates the prevalence of obesity, cellphone and computer usage and physical activity levels and their relationship with spirometry indicators in Iranian children. Materials and Methods: This is a cross-sectional study during 2013 to 2014 on high-school students in Isfahan, Iran. Sample size determined 1,690 students and sampling performed from 10 girls and 10 boy's high schools, based on multi-staged cluster randomized scheme. A research-made questionnaire was developed to complete by students interview and also contact with teachers and parents and measuring height and weight by researchers. If the asthma was probable (based symptoms and examined by physician) the spirometry was performed.  Results: Overall 1,622 high-school students with the average age of 12.9 (+ 1.1) years were recruited. Prevalence of obesity and overweight were significantly higher in boys (

Cost-effectiveness of home mechanical ventilation in children living in a developing country

Background: Home mechanical ventilation is a promising option for children requiring long-term mechanical-assisted ventilation, while data on cost-effectiveness of this approach is limited. Aims: To investigate the cost-effectiveness of home mechanical ventilation in children requiring long-term mechanical-assisted ventilation. Methods: A retrospective cohort was conducted on 67 children (32 girls, 47.7%) requiring mechanical-assisted ventilation. Underlying diseases of children were congenital airway malformations in 24, cystic fibrosis in 4, severe laryngomalacia in 16, poly neuropathy syndrome in 6, mitochondrial myopathy in 5, hypoxic ischemic encephalopathy in 6, and cerebral palsy in 2. Children were admitted in pediatric intensive care units (ICU) for 2 weeks. After discharge, they were on home mechanical ventilation and were followed for 1 year. Data on daily costs of admission at ICU, rehospitalizations, weaning, educational performance and muscle strength were gathered. Results: Mean age of children at time of initiation of mechanical-assisted ventilation was 5.8 years (ranged from 2 months to 15 years). Mean number of re-hospitalizations was 3.4_4.9 times with mean duration of 9.44_2.53 days. Of children on mechanical ventilation, 1 attended school, 2 were weaned, and 21 experienced improvement in muscle strength. No fatal or serious complications were observed while children were on home mechanical ventilation. Mean costs of daily ICU admission was 912_1028 $, while the mean daily cost of home mechanical ventilation was 60.86_4.95$ (p Background: Home mechanical ventilation is a promising option for children requiring long-term mechanicallyassisted ventilation, despite data on the cost-effectiveness of this approach being limited. The aim of the study wasto investigate the cost-effectiveness of home mechanical ventilation in children requiring long-term mechanicallyassisted ventilation. Methods: A retrospective cohort study was conducted on 67 children (32 girls, 47.7%) requiring mechanically assistedventilation. The underlying diseases of the children concerned were as follows: congenital airway malformations in24; cystic fibrosis in 4; severe laryngomalacia in 16; polyneuropathy syndrome in 6; mitochondrial myopathy in 5;hypoxic ischaemic encephalopathy in 6; and cerebral palsy in 2. The children were admitted to paediatric intensivecare units (ICU) for 2 weeks. After discharge, they were placed on home mechanical ventilation and were followed-upfor 1 year. Data on the daily costs of hospital stay at the ICU, re-hospitalisations, weaning, educational performanceand muscle strength were gathered. Results: The mean age of children at time of initiation of mechanically assisted ventilation was 5.2 ± 4.9 years (rangingfrom 2 months to 15 years). The mean number of re-hospitalisations was 3.6 ± 4.9 times with a mean duration of53.2 ± 44.9 days. Of the children on mechanical ventilation, 1 was attending school, 2 had been weaned, and 21 hadexperienced improvement in muscle strength. No fatal or serious complications were observed while the children wereon home mechanical ventilation. The median (IQR) cost of daily ICU stay admission was USD 3,625.0 (USD 7,075.0),while the median daily cost of home mechanical ventilation was USD 1,402.0 (USD 1,044.2) (P < 0.001). Conclusions: Home mechanical ventilation is more cost-effective compared with ICU stay for only mechanicallyassisted ventilation

Comprehensive assessment of respiratory complications in patients with common variable immunodeficiency

[Background] Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by recurrent upper and lower respiratory tract infections and some noninfectious clinical complications.[Objective] To provide a detailed evaluation of respiratory presentations and complications in a cohort of Iranian patients with CVID.[Methods] A retrospective cohort study was conducted on 245 CVID patients who were recorded in the Iranian primary immunodeficiency disorders registry network. Respiratory manifestations were evaluated by reviewing clinical hospital records, immunologic findings, pulmonary function tests (PFT), and high-resolution computed tomography (HRCT) scans.[Results] Most of the patients (n = 208, 85.2%) had experienced at least 1 episode of acute respiratory manifestation, and pneumonia was observed in 31.6 % (n = 77) of cases as a first disease manifestation. During the follow-up, pneumonia, sinusitis, and otitis media were documented in 166 (68.6%), 125 (51.2%), and 103 (42.6%) cases, respectively. Abnormal PFT measurements were documented in 53.8% of patients. Among these patients, 21.5% showed restrictive changes, whereas 18.4% of patients showed an obstructive pattern. Bronchiectasis was the most frequent radiological finding, confirmed in 27.2% of patients. Patients with bronchiectasis were older at the time of immunodeficiency diagnosis (P < .001) and had longer diagnosis delay (P < .001) when compared with patients without bronchiectasis.[Conclusion] This study highlights the importance of monitoring the respiratory tract system even in asymptomatic patients. Pulmonary function tests and CT scans are the most commonly used techniques aiming to identify these patients early, aiming to reduce the rate of long-term respiratory complications.Funding Sources: This research was supported by the Tehran University of Medical Sciences, Tehran, Iran (grant no. 35741)

Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia

[Background] Congenital agammaglobulinemia is the first primary immunodeficiency disorder characterized by a defect in B lymphocyte development and subsequently decreased immunoglobulin levels. These patients are prone to suffer from recurrent infections mostly involving the respiratory tract. In this study, we aimed to describe in detail respiratory tract complications as the most prominent clinical feature among agammaglobulinemic patients.[Methods] A total number of 115 patients were included. Demographic, clinical, and genetic data were collected from the patients’ medical records. Among the available patients, pulmonary function tests (PFTs) and/or high‐resolution computed tomography (HRCT) were performed.[Results] Respiratory tract complications (85.2%) especially pneumonia (62.6%) were the most prominent clinical features in our cohort. Among patients with abnormal PFT results (N = 19), a mixed respiratory pattern was observed in 36.8%. HRCT was carried out in 29 patients; Bhalla scoring‐based evaluation of these patients indicated excellent (44.8%), followed by good (34.5%) and mild (20.7%) results. Bronchiectasis was found in 13 patients undergoing HRCT (44.8%). We found significant inverse correlations between the Bhalla score and incidence rate of pneumonia, as well as the presence of bronchiectasis. Patients with abnormal PFT results had statistically significant higher bronchiectasis frequency and lower Bhalla scores compared to those with normal results. Forty‐one patients were deceased, and here, respiratory failure was the most common cause of death (45.5%).[Conclusion] High prevalence of respiratory tract infections among agammaglobulinemic patients and subsequent progression to permanent lung damage highlights the importance of implementing respiratory evaluation as part of routine follow‐up program of agammaglobulinemic patients. Physicians should be aware of this and regularly monitor the respiratory function of these patients to allow for timely diagnosis and treatment initiation aiming to improve patients’ prognosis and quality of life.This work was supported by a grant (37023‐154‐04‐96) from Tehran University of Medical Science