Recurrent Respiratory Infections Research Articles

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

Backgroundcongenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia.Case presentationWe describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events.ConclusionOur case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.

Genetic polymorphisms of TLR1, TLR2, TLR3 and TLR4 in patients with recurrent or severe infections.

Toll-like receptors (TLRs) play an important role in innate immunity. Previous studies have shown that single nucleotide polymorphisms (SNPs) in the genes coding for these innate immune molecules can affect susceptibility to and the outcome of certain diseases. The aim of the present study was to examine the clinical relevance of well-studied TLR1-4 SNPs in individuals who are prone to infections. Four functional SNPs, TLR1 rs5743618 (1805C>A, Ser602Ile), TLR2 rs5743708 (2258G>A, Arg753Gln), TLR3 rs3775291 (1234C>T, Leu412Phe) and TLR4 rs4986790 (896A>G, Asp299Gly), were analysed in 155 patients with recurrent respiratory infections (n=84), severe infections (n=15) or common variable immunodeficiency (n=56), and in 262 healthy controls, using the High Resolution Melting Analysis method. Polymorphisms of TLR2 rs5743708 (odds ratio [OR] 3.16; 95% confidence interval [CI] 1.45-6.83, p=.004, ap=.016) and TLR4 rs4986790 (OR 1.8; 95% CI 1.05-3.12, p=.028, ap=.112) were more frequent in patients with recurrent or severe infections than in controls. Interestingly, seven patients were found to carry both variant genotypes of TLR2 and TLR4, whereas none of the control group carried such genotypes (p≤.0001). Moreover, TLR2 polymorphism was associated with increased risk for acute otitis media episodes (OR, 3.02; 95% CI 1.41-6.47; p=.012). This study indicates that children and adults who are more prone to recurrent or severe respiratory infections carry one or both variant types of TLR2 and TLR4 more often than control subjects. Genetic variations of TLRs help explain why some children are more susceptible to respiratory infections.

A NOVEL WEB-BASED TOOL FOR LUNG TRANSPLANT PATIENTS UNDERGOING EXTRACORPOREAL PHOTOPHERESIS

IntroductionExtracorporeal photopheresis (ECP) is considered an emerging rescue therapy for patients with CLAD (chronic lung allograft dysfunction). The aim of the study was to set up a web-based data collection tool for lung transplant patients with CLAD undergoing ECP. MethodologyThe web-based tool was developed using Oracle MySQL and coded in HTML, JavaScript and CSS (Cascading Style Sheets) and was set up with pre and post transplant data of possible interest in CLAD. The functionality assessment of the software was carried out using data from a cohort of CLAD patients undergoing ECP treatment. ResultsThe software consists of seven major sections. The validation cohort consisted of 25 lung transplant patients (13 men and 12 women, median age at transplant 51 years). A significant improvement in the rate of decline of FEV1, FVC and FEV1/FVC after introduction of ECP was observed. Forty-four percent of patients showed a <10% decline in FEV1 at 6 months. Patients with recurrent respiratory infections showed less probability of responding to ECP. ConclusionsToday informatics is an integral part of medical science and an essential tool for clinical decision-making under many circumstances, reducing costs and improving patient outcomes. The “Siena ECP Database” allowed us to identify major functional trajectories after the introduction of ECP. It showed good data collection capacity, providing significant pre- and post-transplant information associated with ECP response. Although no clear clinical profile of responders has yet been defined, BOS phenotype and absence of recurrent respiratory infections before diagnosis of CLAD seem to be associated with a positive response to ECP therapy.

Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study

BackgroundGene replacement therapy (onasemnogene abeparvovec) is associated with an improvement of the prognosis of children with spinal muscular atrophy, but information on long-term respiratory outcome is scarce. The aim of this study was to report the polysomnography findings and respiratory muscle function of infants with treatment-naive spinal muscular atrophy type 1 and 2 up to 24 months after onasemnogene abeparvovec monotherapy. MethodsA clinical and motor evaluation, respiratory muscle function testing, and polysomnography were performed repeatedly. ResultsFifteen spinal muscular atrophy patients (1 presymptomatic, 7 type 1b, 6 type 1c, and 1 type 2) were included at a median age of 8.6 months (range 3.8–12.6) and followed for 24 months. The thoracic over head circumference ratio was close to normal at baseline (median 1.00 (range 0.90–1.05)) and increased significantly over time. All polysomnography and nocturnal gas exchange parameters were within normal ranges at baseline (median apnea-hypopnea index 2.5 events/hour (range 0.4–5.3)) and follow-up. The inspiratory muscle strength was normal at baseline but tended to slightly decrease over time and the expiratory muscle strength was low at any time especially for patients with recurrent respiratory infections (median (range) at baseline in cmH2O: crying esophageal pressure 54 (30–110), crying transdiaphragmatic pressure 65 (35–107), gastric pressure during maximal cough 26 (10–130), esophageal pressure during maximal cough 61 (38–150)). Only 3 patients required noninvasive ventilation. ConclusionA continuous respiratory monitoring of spinal muscular atrophy patients during the first years of life following onasemnogene abeparvovec monotherapy seems recommended despite the normality of polysomnography parameters.

A Twins with Congenital Heart Disease: A Case Report

Background: Twin pregnancies have a higher risk of congenital heart defects compared to singleton pregnancies. The most commonly found congenital heart defect in both monochorionic and dichorionic twin gestations is ventricular septal defect (VSD). Approximately 10% of individuals with congenital heart defects will develop pulmonary arterial hypertension-congenital heart disease (PH-CHD).  Case Presentation: We diagnosed an 11-year-old twin girl with ventricular septal defect. First Patient had a severe PH with mean Pulmonary Artery Pressure (mPAP) 68 and a defect size of 9-12 mm, while second patient had a mild PH with mPAP 30 and a defect size of 6-9 mm. The patient presented with failure to thrive, exercise intolerance during daily activities, and a history of recurrent respiratory tract infections. Echocardiography and right heart catheterization (RHC) results showed that the first patient with VSD Left to Right Shunt with low flow high resistance, non-reactive oxygen test and pulmonary hypertension. The second patient with VSD Let to Right shunt. Both of the patients were diagnosed with ventricular septal defect (VSD) and pulmonary hypertension (PH). However, they received different treatments based on the RHC results.  Conclusion: Promptly addressing the long-term implications of CHD is essential to prevent pulmonary hypertension (PH) and systemic disorders. Advanced PH treatments are safe and can result in improved hemodynamic, exercise capacity, quality of life, growth and development and potentially survival.

Risk factors of sleep-disordered breathing and poor asthma control in children with asthma

BackgroundSleep-disordered breathing (SDB) may lead to poor asthma control in children.ObjectiveTo identify risk factors of SDB in children with asthma and assess its impact on asthma control.MethodsIn this cross-sectional study, we collected data of outpatients with asthma at the Children’s Hospital of Chongqing Medical University from June 2020 to August 2021. The Pediatric Sleep Questionnaire—Sleep-Related Breathing Disorder and the age-appropriate asthma control tests Childhood Asthma Control Test and Test for Respiratory and Asthma Control in Kids were completed.ResultsWe enrolled 397 children with a male-to-female ratio of 1.7:1 and a mean age of 5.70 ± 2.53 years. The prevalence of SDB was 21.6%. Allergic rhinitis (odds ratio OR = 3.316), chronic tonsillitis (OR = 2.246), gastroesophageal reflux (OR = 7.518), adenoid hypertrophy (OR = 3.479), recurrent respiratory infections (OR = 2.195), and a family history of snoring (OR = 2.048) were risk factors for the development of combined SDB in children with asthma (p < 0.05). Asthma was poorly controlled in 19.6% of the children. SDB (OR = 2.391) and irregular medication use (OR = 2.571) were risk factors for poor asthma control (p < 0.05).ConclusionsAllergic rhinitis, chronic tonsillitis, gastroesophageal reflux, adenoid hypertrophy, recurrent respiratory infections, and a family history of snoring were independent risk factors for the development of SDB in children with asthma. SDB and irregular medication use were independent risk factors for poor asthma control.

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report

BackgroundX-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases. However, renal involvement are rare in cases of XLA.Case presentationIn this report, we discussed a specific case involving a 6-year-old boy with XLA who experienced recurrent upper respiratory tract infections since the age of one. He presented with symptoms of hematuria and proteinuria, and renal pathology confirmed the presence of immunoglobulin (Ig) A nephropathy. Treatment comprised glucocorticoids, mycophenolate mofetil, and intermittent intravenous immunoglobulin replacement therapy. Consequently, there was a remission of proteinuria and a partial improvement in hematuria.ConclusionsIn this study, we describe the first case of IgA nephropathy associated with XLA. This is an interesting phenotype found in XLA, and it provides valuable insights into the process of autoimmunity and the regulation of immune function in individuals with XLA. Based on our findings, we recommend the evaluation of immunoglobulin levels in patients diagnosed with IgA nephropathy.

Brensocatib in non–cystic fibrosis bronchiectasis: ASPEN protocol/baseline characteristics

Brensocatib is an investigational, oral, reversible inhibitor of dipeptidyl peptidase-1 shown to prolong time to first exacerbation in adults with bronchiectasis. Outlined here are the clinical trial design, and baseline characteristics and treatment patterns of adult patients enrolled in the phase 3 ASPEN trial (NCT04594369).A global study enrolling patients with a clinical history consistent with bronchiectasis (cough, chronic sputum production, and/or recurrent respiratory infections), diagnosis confirmed radiologically, and ≥2 exacerbations in the prior 12 months, ASPEN was designed to evaluate the impact of two brensocatib doses (10 mg and 25 mg) on exacerbation rate over a 52-week treatment periodversusplacebo. Comprehensive clinical data, including demographics, disease severity, lung function,Pseudomonas(P.) aeruginosastatus, and quality of life, were collected at baseline.1682 adults from 35 countries were randomised from December 2020 to March 2023. Mean age was 61.3 years and 64.7% were female. Approximately 70% had moderate-to-severe Bronchiectasis Severity Index (BSI) scores, 29.3% had ≥3 exacerbations in the prior 12 months, and 35.7% were positive forP. aeruginosa. Mean BSI scores were highest in Australia/New Zealand (8.3) and lowest in Latin America (5.9). Overall, the most common aetiology was idiopathic (58.4%). InP. aeruginosa–positiveversus –negative patients, lung function was lower, with greater long-term macrolide (21.5%versus14.0%) and inhaled corticosteroid use (63.5%versus53.9%). There was wide regional variation in long-term antibiotic use in patients with bronchiectasis andP. aeruginosa.ASPEN baseline characteristics and treatment profiles were representative of a global bronchiectasis population.

Dysphagia lusoria caused by aberrant right subclavian artery associated with truncus bicaroticus in an 8-month-old girl. Case report and review of literature.

Dysphagia lusoria is a rare pediatric condition caused by extrinsic compression of the esophagus by an abnormal subclavian artery. The most common congenital abnormality in aortic arch development is an aberrant right subclavian artery. The retroesophageal right subclavian artery is typically symptomatic in 10-33% of cases. The patient, an 8-month-old girl with a history of early dysphagia and stridor, was diagnosed with an abnormal right subclavian artery. She was admitted to the pneumology service multiple times due to stridor, vomiting, and failure to thrive. During hospitalization at the gastroenterology service, a barium swallow and an upper digestive endoscopy indicated an abnormal right subclavian artery, which was confirmed by an Angiography CT scan. She underwent surgery at the age of sixteen months. All symptoms are resolved following surgical intervention, and the patient is still asymptomatic and in good clinical condition 12 months later. Every physician should be aware of abnormal right subclavian arteries and their clinical symptoms in children and adults in order to recognize and diagnose them early. Only an early evaluation may reduce complications such as delayed physical growth, dysphagia, and recurrent respiratory infections.

Results of a comprehensive assessment of the health status of children after a new coronavirus infection (COVID-19)

The inhabitants of the planet in the XXI century are experiencing a second pandemic. The new coronavirus SARSCoV-2 is distinguished not only by its ubiquitous spread, but also by the possibility of developing adverse outcomes, which does not cause anyone doubts today.Aim. To present the dynamic characteristics of children’s health depending on the form of severity of the new coronavirus infection (COVID-19).Material and methods. A prospective single-center clinical study of the complex state of health of children hospitalized in a monoinfective hospital on the basis of the GUZ “City Clinical Hospital” was conducted. The observation included 86 convalescents of a new coronavirus infection aged 7 to 14 years. Dynamic monitoring was carried out for children for 1.5 years from the moment of infection with SARSCoV-2, control visits were performed 1, 6 and 18 months after the disease.Results and discussion. According to the results of a comprehensive assessment of the health status of children after COVID-19, an increase in the number of registrations of recurrent upper and lower respiratory tract infections in convalescents of a moderate form of a new coronavirus infection was found. In 35 (41%) children after infection with SARSCoV-2, concomitant diseases were recorded, in contrast to 23 (26.7%) cases recorded before the pandemic. The structure of concomitant pathology in COVID-19 convalescents is represented by endocrine pathology in 30.2% of cases, in patients after moderate forms of the disease, the frequency of eating disorders (19.8%) increased by 2 times relative to the period before COVID-19, type 1 diabetes mellitus was first detected in 1 (1.2%) child. Diseases of the nervous system (20.9%) were 1.9 times more likely to be diagnosed after COVID-19. Diseases of the eye and its accessory apparatus were registered in 16.3% of children, more often after a moderate form of the disease. The number of cases of gastrointestinal pathology has not changed. Diseases of the respiratory system were recorded in 4.7% of patients, skin and subcutaneous tissue – 3.5% of the examined.Conclusion. A comprehensive assessment of the health status of children after COVID-19 for 1.5 years allows us to establish a decrease in the response of the child’s macroorganism to acute respiratory infections, an increase in the number of registered comorbidities, the relationship between the severity of COVID-19 and its consequences for children.

IJCM_83A: Primary Ciliary Dyskinesia in a child

Background: PCD is rare genetic disorder with incidence of 1:10,000. We present a 10-year-boy who came with recurrent respiratory-infections with Dextrocardia and bilateral Bronchiectasis for interesting clinical presentation. Objective: PCD is rare inherited disease with mutations which impair normal cilia function, characterized by impaired muco-ciliary clearance, causing recurrent-respiratory infections leading to bronchiectasis. Treatment includes preventing and managing complications. Methodology: 10-year-old child came cough-cold since 2 days, and hurried breathing since 1 day. Child had multiple episodes of respiratory- infections which was treated with antibiotics and nebulization on OP basis. Developmental delay also noted, currently in speech domain, can speak 2-3 words. On examination, open mouth breathing and clubbing(grade 3) present. On auscultation bilateral bronchial breath sounds with coarse crepitations. Heart sounds heard louder on right side, but no murmur was heard. Chest X-ray and 2D-ECHO showed Situs-Solitus with Dextrocardia. Child required non-invasive ventilation and IV antibiotics for treatment. Child was weaned off to room air by day 4. CT Thorax done showed bronchiectatic changes in bilateral lung with volume loss of right hemithorax with mediastinal shift to right. CT Nasopharynx and OMC done for open-mouth breathing was normal, and advised steroid nasal spray for nasal blockage. Physiotherapist counselled parents about postural drainage. Genetic testing for PCD was sent, report awaited. He is on regular follow up and doing well. Results: Primary defect in PCD is structure and/or function of cilia leading to accumulation of secretions. Diagnostic criteria includes recurrent chest infections, bronchitis, and rhinitis, with situs-inversus, infertility, decreased mucociliary clearance and cilia showing ultrastructural defect on electron microscopy. We suspected PCD with clinical features and imaging studies. Conclusion: Patients are frequently troubled by repeated infections for which they need to seek medical attention which is reason for morbidity. As there is no specific treatment, early diagnosis and prevention of complication is key to management.

Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome

Background: Congenital myasthenic syndrome is a rare inherited neuromuscular disorder resulting in abnormal weakness and fatigue on exertion with onset at or shortly after birth or in early childhood. Clinical Description: A 2-year-old boy presented to us with respiratory failure, having a history of recurrent respiratory tract infections and underlying isolated motor delay. His 7-year-old elder sister had undiagnosed generalized weakness. Management and Outcome: While the index case was being stabilized with mechanical ventilation, his elder sibling was evaluated. Ptosis was noted in her, which improved with neostigmine. Examination and laboratory investigations ruled out other differentials. Clinical exome sequencing was sent which showed homozygous CHRNE ENST00000649488.2.c.1367_1369del. (p.Asn456del) resulting in acetylcholine receptor deficiency. Both siblings were started on oral pyridostigmine and salbutamol, resulting in improvement in muscle weakness over 3 months and 4 months in younger and older sibling, respectively. Conclusion: Recurrent respiratory insufficiency when associated with motor delay may be suggestive of a neuromuscular disorder. Even siblings with the same mutation may have different levels of severity of clinical manifestation.

BASIC INDICATORS OF PHYSICAL DEVELOPMENT IN CHILDREN AGED 5-6 YEARS WITH RECURRENT RESPIRATORY INFECTIONS

Background. Recently, scientific publications on various aspects of the problem of recurrent respiratory infections in preschool children have paid increasing attention to identifying influential factors contributing to frequent episodes of acute respiratory infections (ARI). In particular, these factors include significant deviations in children's physical development from standard values.&#x0D; Aim: to find out the relationship between the frequency of ARI episodes in children aged 60-83 months and their basic anthropometric indicators.&#x0D; Materials and methods. A total of 71 children (44 boys and 27 girls) aged 60-83 months, undergoing inpatient treatment on ARI, were involved in the clinical study.&#x0D; The number of ARI episodes during the previous year of their life was taken into account. Additionally, two integral indices of ARI recurrence, specifically the infection index (InI) and resistance index (RI), were calculated. The basic indicators of physical development were assessed in the children, including: 1) body weight; 2) body length; 3) body surface area; 4) body mass index; 5) chest circumference (CC); 6) integral index of dolichostenomelia. For the comparative analysis of the results obtained, the current standards of physical development indicators for children from the World Health Organization were used. The statistical processing of the digital data was performed with IBM SPSS Statistics 28 licensed software.&#x0D; Results. Rank correlation analysis and cross-tabulation did not demonstrate any interdependence between InI and RI, on the one hand, and the anthropometric indicators considered, on the other hand. Meanwhile, there was a very strong direct correlation between InI and RI (ρ=0.983; p&lt;0.001; 95% CI: 0.972-0.989) in the examined children. Linear regression analysis revealed the dependence of InI and RI on CC size (p&lt;0.001). At that, the degree of the impact of CC size on these clinical indices was almost the same, constituting 7.7% and 7.5%, respectively.&#x0D; Conclusion. Thus, according to the data obtained, the contribution of СС size to the susceptibility of children aged 60-83 months to recurrent respiratory infections among other potential risk factors is insignificant. However, given the widely recognized diversity of mentioned factors, the result deserves due attention. This should be accounted while developing the final integrated model for predicting the frequency of ARI episodes in preschool children.

Smoking and Real Life Results of Children and Adolescents

Aim: Smoking is a chronic disease and children are the most affected group. In this study, we aimed to question the smoking habits of children and their parents and examine the level of exhaled carbon monoxide (eCO) to evaluate the usefulness of the method in an outpatient allergy clinic. Methods: A questionnare was applied to 29 children who were smoker or exposed to second-hand smoke (SHS) and their parents separately. eCO levels of the participants were measured with CO Smokerlyzer. Results: The median eCO level of children who smoked was 10 (7-14) ppm and was significantly higher than children exposed to SHS (P &amp;lt;0.001). The children who smoked were significantly older, the more they had friends who smoked. Children who were not exposed to tobacco products had lower rates of hospitalization due to recurrent lower respiratory tract infections, and family history of asthma was lower than children exposed to SHS (p &amp;lt;0.05). All the children were aware of the harmful effects of smoking. 34.5% of the parents were never questioned by their physicians about tobacco and its products and were not informed about smoking. Conclusions: Using eCO in the clinic is a useful method to predict smoking status in daily practice. Children's attitudes towards smoking and peer relationships and parents' ignorance of smoking and SHS are still an unresolved issue.

[Congenital pulmonary malformations : Diagnosis and treatment].

Congenital pulmonary malformations (CPM) are rare and can be associated with high morbidity. Clinical presentation, diagnostic procedures, imaging, and therapy of CPM are discussed. Today, most CPM can be diagnosed prenatally by ultrasound. Postnatally, respiratory symptoms up to respiratory failure and recurrent lower respiratory tract infection are typical findings. Due to low diagnostic accuracy of chest x‑ray in CPM, all children with prenatal diagnosis of CPM or postnatally suspected CPM should undergo cross-sectional imaging. Based on imaging alone, the various subtypes of CPM cannot be definitively differentiated, which is why histological confirmation remains the gold standard. Surgical resection is the standard of care with minimally invasive procedures increasingly being employed. In certain situations, awatch-and-wait approach is possible.

Experience of flexible bronchoscopy in the pediatric pulmonary diseases clinic.

Flexible bronchoscopy is a valuable method in the diagnosis and treatment of respiratory tract diseases in children. This study aimed to examine the indications for and results of flexible bronchoscopy in children. The study included patients aged 0-18 years who underwent flexible bronchoscopy between 1 January 2017 and 31 December 2022. The patients were evaluated for demographic characteristics, indications for bronchoscopy, comorbidities, bronchoscopy findings, and the results of bronchoalveolar lavage. During the defined study period, a total of 410 flexible bronchoscopy procedures were performed. 51.9% of the patient population were male, and 48.1% were female, with a mean age of 96.93 ± 63.45 months. The most common indication for flexible bronchoscopy was recurrent lower respiratory tract infection (26.8%), followed by chronic cough (19.1%). The bronchoalveolar lavage culture results showed that the most commonly isolated microorganisms were H. influenzae non-type b (7.8%) followed by M. catarrhalis (7.3%). Mucus obstruction and secretion (33.0%) constituted the most common bronchoscopic findings, while the flexible bronchoscopy examination was normal in 27% of patients. No serious complications occurred in any patient during or after the procedure. The results of this study demonstrated that the most common indication for flexible bronchoscopy was recurrent lower respiratory tract infection and the most common bronchoscopy finding was purulent secretion with mucus obstruction. Flexible bronchoscopy is an important diagnostic and treatment tool for patients with recurrent respiratory symptoms. It is a highly valuable method as it enables direct visualization of the airways and facilitates the collection of bronchoalveolar lavage samples.

Original Article--Clinical and Procedural Characteristics of Successful Transcatheter Device Closure of Ostium Secundum Atrial Septal Defect in Symptomatic Children Weighing

This retrospective study sought to determine the feasibility of transcatheter atrial septal defect device closure in patients less than 15 kg, as well as to assess complication rates and the reasons for unsuccessful device closure. In general, the risks associated with transcatheter atrial septal defect device closure are believed and reported to be relatively low, but the evidence stems from trials involving adults and older children. Current guidelines do not recommend atrial defect closure in device closure in children <15 kg, due to limited data available for feasibility and safety of device closure in this group of patients. Retrospective review of all patients who underwent elective transcatheter closure of ostium secundum atrial septal defect between September 2013 to February 2022. We excluded all children above 15 kg, as well as those with complex congenital heart defects. Major and minor complications were predefined and indications for referral were evaluated. We identified 81 patients meeting criteria with a median procedural age of 3 years (1 year-8 years), and median weight of 12 kg (4-15 kg). Successful device closure was achieved in 95.1% (77/81) and in 4.9% (4/81), the procedure was aborted. There was 1 major (1.2%) and 1 minor (1.2%) complication, total complication rate (2.4%). 100% of the referrals had right heart enlargement and exertional dyspnoea, 18.5% had recurrent lower respiratory tract infection and 9.9% had failure to thrive. Rate of resolution of residual shunt was 95.1%. at post-procedure day 1 and 98.8% at post-procedure 3 and 6 months respectively. Percutaneous atrial septal defect closure can be done effectively and safely in symptomatic children weighing less than 15 kg in experienced centres. However, deferral for closure until the historically established timeline of around 4-5 years of age should be strongly considered in asymptomatic children.

Congenital bilio-bronchial fistula in an adult: a review of literature and video demonstration of laparoscopic fistula tract excision.

This article presents a review of the literature on congenital bilio-bronchial fistula (BBF), a rare anomaly characterized by abnormal communication between the bile duct and respiratory tract. Congenital BBF often presents with bilioptysis in early neonates and infants; however, patients with no overt symptoms may occasionally present in adulthood. Our literature search in Medline from 1850 to 2023 revealed 42 reported cases of congenital BBF, primarily managed with thoracotomy and excision of the fistula tract. About one-third of these cases required multiple surgeries due to associated biliary anomalies. The review underscores the importance of diagnostic imaging, including bronchoscopy, in identifying and delineating the extent of the fistula. It also highlights the evolving surgical management, with recent cases showing the efficacy of minimally invasive approaches such as laparoscopy and thoracoscopy. In addition to the literature review, we report a young female patient with a history of recurrent respiratory infections presenting with bilioptysis and extensive left lung damage. Initial management included bronchoscopy-guided glue instillation, left thoracotomy, and pneumonectomy. Following the recurrence of symptoms, the patient was successfully treated with laparoscopic excision of the fistula tract. In recent times, minimally invasive approaches such as laparoscopy and thoracoscopy, with excision of the fistula tract are gaining popularity and have shown good results. We suggest biliary communication being the high-pressure end, tackling it transabdominal may prevent recurrent problems.

The burden of recurrent respiratory tract infections in adult population: a population-based study in primary care.

Viral infections are the main original cause of recurrent respiratory tract infections (RRTIs), but their complications and recurrences are due to bacteria as well. While some operational definitions and epidemiology of RRTIs are reported in paediatrics, no similar definitions have been proposed for adults. To assess the epidemiology and characteristics of RRTIs in the adult population. Cohort study in the primary care setting. Using the Health Search Database, we selected a cohort of patients aged 18 years or older between 2002 and 2022. Yearly, we counted upper and lower respiratory tract infections (RTIs) per patient. We investigated 2 cut-offs defining RRTIs, nominally 3+ RRTIs/patient/year or greater than the mean value of RTIs/patient/year. The associations between these two event definitions and the correlates defining the patients' vulnerability were assessed by estimating a logistic regression model. Over the study years, the mean number of RTIs/patient/year ranged from 0.07-0.16 or 1.10-1.13 events, when the denominator was formed by the overall population or those diagnosed with RTIs, respectively. When the analysis was focussed on 2022, we obtained 0.2% (1.3% among those with RTIs) or 13% (11.3% among those with RTIs) cases of RRTIs, using a cut-off of 3+ or >=0.16 events (mean value/patient), respectively. Consistent associations were found for these two operational definitions and the investigated clinical correlates. We provided evidence on the epidemiology and concurrent/predisposing factors of RRTIs in adults. These data should support health authorities and general practitioners for the application of the most appropriate preventive and/or treatment strategies.

Parallels between clinical and genetic characteristics in children with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that leads to chronic inflammatory damage to the airways and auditory organs. This article presents current information and a study aimed at investigating parallels between the course of PCD and clinical and genetic variant of the disease, which contributes to a timely diagnosis and enables personalized treatment approach.The aim of the study was to identify phenotypic characteristics and chronological patterns of PCD course depending on the genotype.Methods. The study was conducted at the Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of Russia. The study included children with PCD who underwent next generation sequencing (NGS) of the exome.Results. Significant differences were found in the course of PCD based on clinical and genetic characteristics. Children with defects in the genes encoding central pair proteins are characterized by an earlier onset of daily productive cough and recurrent respiratory infections. A similar pattern is typical for patients with defects in the genes encoding the cilia assembly proteins. The first episode of respiratory infection occurs later in patients with defects in the genes encoding dynein handle proteins. Patients who do not have defects in PCD-associated genes are characterized by a late onset of persistent difficulty in nasal breathing, productive cough and respiratory diseases.Conclusion. Identification of clinical and genetic variants of PCD allows prediction of chronological features of the course of the disease.