Recurrent Pulmonary Infections Research Articles

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.

Background: Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 (LTBP4) gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE). Aim: We aimed to evaluate 3 ARCL1C patients, 2 of whom are still alive and in their childhood period, from 2 unrelated families with novel LTBP4 mutations, to demonstrate the clinical variability of pulmonary involvement. Materials and Methods: Three children who were molecularly confirmed by LTBP4 sequencing analysis were comprehensively reviewed in terms of pulmonary manifestations through chest examination, lung function tests (LFTs), chest X-ray, and thorax computed tomography. Results: Family 1 (c.3740A>G LTBP4 mutation): A 5-year-old male patient with pulmonary artery stenosis (PAS) presented with persistent cough and exhibited mild restriction on LFT. Family 2 (c.2T>G LTBP4 mutation): Radiographic examinations revealed PE in a 7-year-old female patient who was operated for diaphragmatic hernia. She had recurrent bronchiolitis and pulmonary infections. LFT revealed both obstructive and restrictive pattern. Her cousin also had respiratory distress with the onset of the newborn period and died due to bilateral pneumothorax in early infancy. Conclusion: The variable severity of pulmonary findings was shown in these patients. It should also be kept in mind that there could be intrafamilial variability of systemic manifestations. Although obstructive lung disease is expected to be seen in ARLC1C patients, restrictive LFT patterns may also be detected as a result of comorbidities such as diaphragmatic hernia and PAS.

Carcinoid Tumorlets Co-Existing with Chronic Pulmonary Inflammatory Processes: Imaging Findings and Histological Appearances.

BackgroundPulmonary carcinoid tumorlets (PCT) are incidental histologic or radiologic discoveries that are localized neuroendocrine tumors whose proliferation is associated with chronic pulmonary inflammatory processes. This study assessed the imaging findings and histological appearances of PCT co-existing with chronic pulmonary inflammatory processes.Material/MethodsWe performed a retrospective study of 14 patients with incidentally-found PCT with co-existing chronic pulmonary inflammatory processes who underwent preoperative X-rays and CT between 1 January 2003 and 31 December 2012. The clinical symptoms, X-rays, CT imaging findings, and histological appearances were retrospectively evaluated.ResultsTwelve women and 2 men were found to have PCT, with a mean age of 55.29±13.90 years (range 25–74 years) at diagnosis. Among these 14 patients, hemoptysis, cough, chest pain, expectoration, and chest tightness were found in 9 (64.3%), 5 (35.7%), 4 (28.6%), 3 (21.4%), and 1, respectively. For most patients, we could not find any small nodules on the X-ray or CT images. However, indirect imaging findings of bronchiectasis (85.7%, 12/14), atelectasis (57.1%, 8/14), inflammation (92.8%, 13/14), tuberculosis (7.1%, 1/14), and lung cancer (7.1%, 1/14) were found in all 14 patients.ConclusionsPCT occurs most commonly in middle-aged women who have chronic pulmonary inflammatory processes such as bronchiectasis, atelectasis, and inflammation. Although there are no specific symptoms or direct imaging findings in these patients, our results showed that patients who have bronchiectasis, atelectasis, or recurrent pulmonary infection are at increased risk for PCT.

ENaC regulation by phospholipids and DGK explained through mathematical modeling

Cystic fibrosis is a condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR). It is also thought to increase the activity of epithelial sodium channels (ENaC). The altered function of these ion channels is one of the causes of the thick dehydrated mucus that characterizes the disease and is partially responsible for recurrent pulmonary infections and inflammation events that ultimately destroy the lungs of affected subjects. Phosphoinositides are signaling lipids that regulate numerous cellular processes and membrane proteins, including ENaC. Inhibition of diacylglycerol kinase (DGK), an enzyme of the phosphoinositide pathway, reduces ENaC function. We propose a computational analysis that is based on the combination of two existing mathematical models: one representing the dynamics of phosphoinositides and the other explaining how phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) influences ENaC activity and, consequently, airway surface liquid. This integrated model permits, for the first time, a detailed assessment of the intricate interactions between DGK and ENaC and is consistent with available literature data. In particular, the computational approach allows comparisons of two competing hypotheses regarding the regulation of ENaC. The results strongly suggest that the regulation of ENaC is primarily exerted through the control of PI(4,5)P2 production by type-I phosphatidylinositol-4-phosphate 5-kinase (PIP5KI), which in turn is controlled by phosphatidic acid (PA), the product of the DGK reaction.

Common variable immunodeficiency with granulomatous-lymphocytic interstitial lung disease and preceding neurological involvement: a case-report

BackgroundCommon variable immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies characterised by a dysregulated and impaired immune response. In addition to an increased susceptibility to infection, it is also associated with noninfectious autoimmune and lymphoproliferative complications. CVID is rarely associated with neurological complications. Pulmonary involvement is more common, and patients can develop an interstitial lung disease known as granulomatous-lymphocytic interstitial lung disease (GLILD).Case presentationA 50-year-old Caucasian female with a history of Evans syndrome (idiopathic thrombocytopaenic purpura and autoimmune haemolytic anaemia) and hypogammaglobulinaemia initially presented to the neurology clinic with marked cerebellar ataxia and headaches. Following extensive investigation (which included brain biopsy), she was diagnosed with neuro-sarcoidosis and her symptoms resolved following treatment with immunosuppressive therapy. Over the following 10 years, she was extensively investigated for recurrent pulmonary infections and abnormal radiological findings, which included pulmonary nodules, infiltrates and splenomegaly. Subsequently, she was referred to an immunology clinic, where immunoglobulin replacement treatment was started for what was ultimately considered to be CVID. Shortly afterwards, evaluation of her clinical, radiological and histological findings at a specialist interstitial lung disease clinic led to a diagnosis of GLILD.ConclusionCVID is a condition which should be suspected in patients with immunodeficiency and recurrent infections. Concomitant autoimmune disorders such as haemolytic anaemia and immune thrombocytopenia may further support the diagnosis. As illustrated in this case, there is a rare association between CVID and inflammatory involvement of the neurological system. Respiratory physicians should also suspect CVID with associated GLILD in patients with apparent pulmonary granulomatous disease and recurrent infections. In addition, this case also highlights the challenge of diagnosing CVID and its associated features, and how the definitive exclusion of other pathologies such as malignancy, mycobacterial infection and lymphoma is required as part of this diagnostic process.

Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis.

Cystic fibrosis is a multi-system disease characterised by the production of thick secretions causing recurrent pulmonary infection, often with unusual bacteria. This leads to lung destruction and eventually death through respiratory failure. There are no antibiotics in development that exert a new mode of action and many of the current antibiotics are ineffective in eradicating the bacteria once chronic infection is established. Antibiotic adjuvants - therapies that act by rendering the organism more susceptible to attack by antibiotics or the host immune system, by rendering it less virulent or killing it by other means, would be a significant therapeutic advance. This is an update of a previously published review. To determine if antibiotic adjuvants improve clinical and microbiological outcome of pulmonary infection in people with cystic fibrosis. We searched the Cystic Fibrosis Trials Register which is compiled from database searches, hand searches of appropriate journals and conference proceedings. Date of most recent search: 16 January 2020. We also searched MEDLINE (all years) on 14 February 2019 and ongoing trials registers on 06 April 2020. Randomised controlled trials and quasi-randomised controlled trials of a therapy exerting an antibiotic adjuvant mechanism of action compared to placebo or no therapy for people with cystic fibrosis. Two of the authors independently assessed and extracted data from identified trials. We identified 42 trials of which eight (350 participants) that examined antibiotic adjuvant therapies are included. Two further trials are ongoing and five are awaiting classification. The included trials assessed β-carotene (one trial, 24 participants), garlic (one trial, 34 participants), KB001-A (a monoclonal antibody) (two trials, 196 participants), nitric oxide (two trials, 30 participants) and zinc supplementation (two trials, 66 participants). The zinc trials recruited children only, whereas the remaining trials recruited both adults and children. Three trials were located in Europe, one in Asia and four in the USA. Three of the interventions measured our primary outcome of pulmonary exacerbations (β-carotene, mean difference (MD) -8.00 (95% confidence interval (CI) -18.78 to 2.78); KB001-A, risk ratio (RR) 0.25 (95% CI 0.03 to 2.40); zinc supplementation, RR 1.85 (95% CI 0.65 to 5.26). β-carotene and KB001-A may make little or no difference to the number of exacerbations experienced (low-quality evidence); whereas, given the moderate-quality evidence we found that zinc probably makes no difference to this outcome. Respiratory function was measured in all of the included trials. β-carotene and nitric oxide may make little or no difference to forced expiratory volume in one second (FEV1) (low-quality evidence), whilst garlic probably makes little or no difference to FEV1 (moderate-quality evidence). It is uncertain whether zinc or KB001-A improve FEV1 as the certainty of this evidence is very low. Few adverse events were seen across all of the different interventions and the adverse events that were reported were mild or not treatment-related (quality of the evidence ranged from very low to moderate). One of the trials (169 participants) comparing KB001-A and placebo, reported on the time to the next course of antibiotics; results showed there is probably no difference between groups, HR 1.00 (95% CI 0.69 to 1.45) (moderate-quality evidence). Quality of life was only reported in the two KB001-A trials, which demonstrated that there may be little or no difference between KB001-A and placebo (low-quality evidence). Sputum microbiology was measured and reported for the trials of KB001-A and nitric oxide (four trials). There was very low-quality evidence of a numerical reduction in Pseudomonas aeruginosa density with KB001-A, but it was not significant. The two trials looking at the effects of nitric oxide reported significant reductions in Staphylococcus aureus and near-significant reductions in Pseudomonas aeruginosa, but the quality of this evidence is again very low. We could not identify an antibiotic adjuvant therapy that we could recommend for treating of lung infection in people with cystic fibrosis. The emergence of increasingly resistant bacteria makes the reliance on antibiotics alone challenging for cystic fibrosis teams. There is a need to explore alternative strategies, such as the use of adjuvant therapies. Further research is required to provide future therapeutic options.

Recurrent pneumonia in a patient with new coronavirus infection after discharge from hospital for insufficient antibody production: a case report

BackgroundThe rapid spread of coronavirus disease 2019 (COVID-19) was declared as an emerging public health threat by the World Health Organization. As various measures have been taken successfully to combat the epidemic caused by SARS-CoV-2, a growing number of fully recovered patients have been discharged from hospitals. However, some of them have relapsed. Little is known about the causes that triggered the relapse.Case presentationWe report a case of a 40 years old man who suffered from recurrent pulmonary infection with progression of lesions on chest computed tomography (CT), elevated levels of ferritin and IL2R, reduced lymphocyte count and positive oropharyngeal swab test for SARS-CoV-2 again after 5 days discharge from hospital. The anti-SARS-CoV-2 antibody level of this patient was very low at the time of relapse, suggesting a weak humoral immune response to the virus. Total exon sequencing revealed mutations in TRNT1 gene, which may be responsible for B cell immunodeficiency. Therefore, uncleared SARS-CoV-2 at his first discharge was likely to lead to his recurrence. However, viral superinfection and non-infectious organizing pneumonia could not be completely excluded.ConclusionCOVID-19 relapse may occur in a part of discharged patients with low titers of anti-SARS-CoV-2 antibodies. These patients should be maintained in isolation for longer time even after discharge. A more sensitive method to detect SARS-CoV-2 needs to be established and serological testing for specific antibodies may be used as a reference to determine the duration of isolation.

Chronic rhinosinusitis in patients with cystic fibrosis-Current management and new treatments.

ObjectivesThe purpose of this article is to provide a state‐of‐the‐art review of the literature and summarize the latest publications on medical and surgical treatment of cystic fibrosis (CF) chronic rhinosinusitis (CRS), with an emphasis on describing recent advancements in cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies.MethodsA comprehensive literature review was conducted utilizing the PubMed database with search phrases detailed within the body of the article. s were reviewed to include publications detailing medical, surgical, and CFTR modulating therapies for CF CRS. Findings from studies not previously reviewed and publications regarding CFTR modulators were emphasized.ResultsNo clear guidelines for treatment of CF CRS are available. Nasal saline rinses, topical steroids, topical antibiotics, and topical dornase alfa are reported medical therapies. Ivacaftor has some sinonasal symptomatic benefit. A new triple therapy CFTR modulator, elexacaftor/tezacaftor/ivacaftor, is capable of treating 90% of patients with CF and has shown the greatest FEV1 improvement of any CFTR modulator yet. There is no clear consensus on surgical indications or technique, though aggressive surgery in recalcitrant disease has shown some symptomatic benefit. Endoscopic sinus surgery after lung transplantation may benefit some patients in whom the sinuses serve as a reservoir for recurrent pulmonary infections by decreasing rates of bronchiolitis obliterans syndrome and improving 5 year survival.ConclusionAs lifespan increases for patients with CF, further investigation into medical therapy, CFTR modulator sinonasal outcomes, and surgical technique and outcomes for CF CRS is needed.Level of Evidence5.

Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience.

Background Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the underlying investigation. Methods We evaluated a study group of 149 patients (n = 149) with PID. In total, serum AAT concentrations were available for 110 patients (n = 110). For the identified patients, we analyzed both clinical associations and interactions. Results Among the investigated patients, reduced serum AAT levels were detected in 7 patients. With regard to the genotype, PI∗ZZ was found in 2 patients, whereas PI∗MZ was observed in 5 patients. Independent of the underlying phenotype, obstructive lung diseases were found in 2 patients with PI∗ZZ and 2 patients with PI∗MZ. Conclusions In Germany, the estimated percentage for PI∗ZZ and PI∗MZ is 0.01% and 1.9%, respectively. As demonstrated, the ratio in our study group was even higher. We identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. Hence, AAT analysis should be offered to all patients with confirmed PID diagnoses. To strengthen this finding, we suggest the investigation of larger databases.

Intralobar Pulmonary Sequestration with 3 Aberrant Arteries in a 2-Year-Old Boy

Pulmonary sequestration is a rare congenital pulmonary malformation. This malformation consists of dysplastic lung tissue with no connection to the tracheobronchial tree and with an anomalous systemic arterial supply. The clinical hallmarks of intralobar sequestration are recurrent pulmonary infections. Chest CT scan with contrast is actually gold standard for identifying pulmonary sequestration. CT volume-rendering technique image reconstructions can be particularly helpful in detecting anomalous arterial vessels and show the venous drainage. Surgical resection is the treatment of choice and intralobar sequestration often requires lobectomy. We present an interesting case of intralobar pulmonary sequestration with 3 aberrant arteries arising from the descending thoracic aorta in a 2-year-old boy.

Left Lung and Pulmonary Artery Hypoplasia: A Rare Case of Hemoptysis.

Pulmonary hypoplasia or agenesis is a rare congenital disorder that results in lung underdevelopment. This disease is usually found in children but rarely encountered in adults. We describe the case of an 84-year-old woman diagnosed with a unilateral pulmonary hypoplasia presenting simultaneously with left pulmonary artery hypoplasia. Due to this condition, the patient had a lifelong history of pulmonary infections that resulted in several bronchiectases in the affected lung. Moreover, the pulmonary artery hypoplasia led to the development of pulmonary hypertension and collateral circulation causing hemoptysis, giving rise to the patient attending the emergency department. Although we were able to medically manage the hemoptysis, it can be fatal and require surgical intervention. Hence, an early diagnosis is essential so that appropriate follow-up and prompt prevention and treatment of complications, such as pulmonary infections, hemoptysis and pulmonary hypertension, are achieved.LEARNING POINTSAlthough rare and typically associated with childhood, lung and pulmonary artery hypoplasia can in exceptional cases be present in adult life.The diagnosis of lung and pulmonary artery hypoplasia is challenging in adults as they can easily be mistaken for more common diseases.Symptoms and complications may be life-threatening, including dyspnea, hemoptysis, recurrent pulmonary infections and pulmonary hypertension.An early diagnosis is extremely important because it allows a close follow-up with consequent timely detection and treatment of serious complications, especially pulmonary hypertension.

Fungal Pneumonia in The Immunocompetent Host: A Possible Statistical Connection Between Allergic Fungal Sinusitis with Polyposis and Recurrent Pulmonary Infection Detected by Gastroesophageal Reflux Disease Scintigraphy.

Objectives:Fungal pneumonia in the immune competent host is a rarity with few reported cases in the literature. We present a series of 7 cases of recurrent fungal pneumonia in association with allergic fungal rhinosinusitis and gastroesophageal reflux disease (GERD). We hypothesised that recurrent infection may have been transported from the infected paranasal sinuses into the lung by GERD as the process was terminated by surgical fundoplication in 2 of these patients.Methods:Patients were recruited into the study if they were immune competent and had recurrent fungal pneumonia and GERD. Allergic fungal rhinosinusitis was proven by biopsy. GERD was investigated by a scintigraphic test that assessed local oesophageal disease, lung aspiration and head and neck involvement with a hybrid gamma camera and X-ray computed tomography.Results:All patients were shown to have GERD with 5/7 showing paranasal sinus contamination and 7/7 showing laryngopharyngeal involvement and 6/7 lung aspiration. One patient had characteristics strongly predictive of aspiration. Fundoplication led to cessation of fungal lung infection in two patients.Conclusion:Recurrent fungal pneumonia in the immune competent host should raise the possibility of re-infection from the paranasal sinuses, especially in patients with GERD.

Case report: a 58 -year -old man with small kidneys and elevated liver enzymes

BackgroundThe conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN). Karyomegalic nephritis (KIN) is a rare genetic disease, with less than 50 cases reported, which incidence is probably underestimated. We report here an unusual case presentation of KIN with obtention of several organ biopsies and a novel mutation leading to the disease.Case presentationA 58 year old Caucasian without relevant family history presents with advanced chronic kidney disease, elevated liver enzymes and recurrent pulmonary infection. Familial history was negative. Renal biopsy revealed a chronic tubulo-intertsitial nephritis with enlarged and irregular hyperchromatic nuclei. Karyomegalic nephritis (KIN) was confirmed by genetic testing with a non-sense mutation and a deletion in the Fanconi anemia associated nuclease 1 (FAN1) gene.ConclusionsKIN is rare disease to be suspected in the presence of renal disease, biological hepatitis and recurrent pulmonary infections, even without a familial history. Diagnosis of this condition is crucial to perform family screening, avoid progression factors, and adapt post transplantation immunosuppression. Finally, avoiding familial heterozygote donors appears of major importance in this condition.

Nursing Effect of Stellate Ganglion Block on Cerebral Infarction Based on Message Authentication Code Diameter Algorithm

Objective: To investigate the influence of stellate ganglion block on the prognosis of patients with hypertensive intracerebral hemorrhage according to the inclusion criteria and whether the complications such as rebleeding and pulmonary infection are related to the occurrence of complications such as recurrent hemorrhage and pulmonary infection. The use of ganglion blockade in the clinical application of cerebrovascular disease and possible risks. Methods: A total of 138 patients with hypertensive intracerebral hemorrhage who were treated with different treatments in neurosurgery from March 2013 to December 2015 were included in the study. Among them, 67 patients in the treatment group (MAC diameter algorithm stellate ganglion block + conventional treatment) and 71 patients in the control group were collected. The medical records of the two groups were collected for retrospective analysis. Result: There was a difference in the prognosis between the two groups (P = 0.042). There was a difference in the prognosis between the early planetary ganglion block and the late planetary ganglion block in the treatment group (P = 0.043). There were no statistically significant differences between the two groups in the incidence of pulmonary infection (P = 0.194) and rebleeding (P = 0.856) during treatment. Conclusion: Stellate ganglion block is helpful for the prognosis of patients with hypertensive intracerebral hemorrhage. Based on MAC diameter algorithm, stellate ganglion block as a minimally invasive, simple, safe and easy-to-use minimally invasive treatment method has certain curative effect on patients with hypertensive cerebral hemorrhage, especially in early application, which is worthy of clinical promotion.

Interleukin-2-Inducible T-Cell Kinase Deficiency Impairs Early Pulmonary Protection Against Mycobacterium tuberculosis Infection

Interleukin-2 (IL-2) inducible T-cell kinase (ITK) is a non-receptor tyrosine kinase highly expressed in T-cell lineages and regulates multiple aspects of T-cell development and function, mainly through its function downstream of the T-cell receptor. Itk deficiency can lead to CD4 lymphopenia and Epstein-Bar virus (EBV)-associated lymphoproliferation and recurrent pulmonary infections in humans. However, the role of the ITK signaling pathway in pulmonary responses in active tuberculosis due to Mtb infection is not known. We show here that human lungs with active tuberculosis exhibit altered T-cell receptor/ITK signaling and that Itk deficiency impaired early protection against Mtb in mice, accompanied by defective development of IL-17A-producing γδ T cells in the lungs. These findings have important implications of human genetics associated with susceptibility to Mtb due to altered immune responses and molecular signals modulating host immunity that controls Mtb activity. Enhancing ITK signaling pathways may be an alternative strategy to target Mtb infection, especially in cases with highly virulent strains in which IL-17A plays an essential protective role.

Özofagus Atrezisi ve/veya Trakeoözofageal Fistül Cerrahisi Sonrası Solunum Sistemi Erken ve Geç Dönem Komplikasyonlarının İncelenmesi

INTRODUCTION: Esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) is one of the common developmental anomalies of the foregut. Despite advances in surgical techniques and postoperative care, respiratory system complications affect the quality of life of patients. We planned to evaluate our patients in terms of the general features, the risk factors for respiratory morbidity and short- and long-term respiratory complications after surgical treatment. METHODS: Thirty-six patients with EA and/or TEF and followed after surgical treatment between 2002 and 2019 were retrospectively enrolled in the study. RESULTS: The most common symptom was chronic cough (77.7%) and wheezing (41.6%). Recurrent pulmonary infections were present in the majority. The number of pulmonary infections was high in patients who had dilatation due to stricture(N=14) and in patients with recurrent TEF(N=6) and malacia(N=10). Bronchiectasis was present in 8 patients and hospital admission due to infections was high. Aeroallergen sensitivity was detected in four patients and food allergy in five patients. Scoliosis was present in 33.3% of the patients all of whom had recurrent pulmonary infections. Pulmonary function tests were performed in 10 patients. Five patients had impaired pulmonary function. Medical treatment for reflux was given to the majority of patients (N=30), while fundoplication was performed in 10 patients. Most of the patients had a significant decrease in the frequency of pulmonary infections after the procedure. DISCUSSION AND CONCLUSION: The etiology of pulmonary complications is multifactorial and many factors affect each other. Evaluation and management of the patients for each complication will improve the quality of life and comfort of the patients.

Infection prevention and chronic disease management in cystic fibrosis and noncystic fibrosis bronchiectasis.

Bronchiectasis is a chronic lung disease (CLD) characterized by irreversible bronchial dilatation noted on computed tomography associated with chronic cough, ongoing viscid sputum production, and recurrent pulmonary infections. Patients with bronchiectasis can be classified into two groups: those with cystic fibrosis and those without cystic fibrosis. Individuals with either cystic fibrosis related bronchiectasis (CFRB) or noncystic fibrosis related bronchiectasis (NCFRB) experience continuous airway inflammation and suffer airway architectural changes that foster the acquisition of a unique polymicrobial community. The presence of microorganisms increases airway inflammation, triggers pulmonary exacerbations (PEx), reduces quality of life (QOL), and, in some cases, is an independent risk factor for increased mortality. As there is no cure for either condition, prevention and control of infection is paramount. Such an undertaking incorporates patient/family and healthcare team education, immunoprophylaxis, microorganism source control, antimicrobial chemoprophylaxis, organism eradication, daily pulmonary disease management, and, in some cases, thoracic surgery. This review is a summary of recommendations aimed to thwart patient acquisition of pathologic organisms, and those therapies known to mitigate the effects of chronic airway infection. A thorough discussion of airway clearance techniques and treatment of or screening for nontuberculous mycobacteria (NTM) is beyond the scope of this discussion.

LUNG NODULE 25 YEARS AFTER LOBECTOMY – RECURRENCE OF BRONCHIAL CARCINOID

Introduction: Bronchopulmonary (BP) carcinoids are low and intermediate grade tumors, seen in adults between fourth to sixth decade, where no clear association with tobacco smoking is established. Most often they are sporadic lesions (95%). Half of patients have no symptoms and the tumor is incidentally found on a chest x- ray. BP carcinoids have a good prognostic, however there is a risk of distant metastasis and the recurrences are frequent. Therefore a crucial role of vigilant follow- up, extending far beyond 5 years. Case presentation: We report a case of 73 years old women, with history of recurrent pulmonary infections, and positive family history for lung cancer. Patient underwent left inferior lobectomy for BP carcinoid 25 years before and completed a 5 years long follow- up. On a thoracic computed tomography scan a nodule in the right lung was detected. Patient benefited from surgery and the pathological result was typical carcinoid with Ki67<1%. Follow- up CT scans showed stable images, with no signs of spread or recurrence. Conclusions: Although there is a low risk of distant spread in such tumors, the recurrences are frequent. Moreover, patients may exhibit a higher risk of development of second tumors and there is a risk of metachronous tumors. The post-operative follow-up should be prolonged.

Long-term misdiagnosed tracheoesophageal fistula in child presenting as recurrent pulmonary infection: case report

Long-term misdiagnosed tracheoesophageal fistula in child presenting as recurrent pulmonary infection: case report

Total absence of the pericardium associated with hypogammaglobulinemia and bronchiectasis in a girl.

We report the case of an 8-years-old girl with recurrent pulmonary infections and wheezing since infancy, in whom asthma and immunoglobulin-G deficiency were diagnosed at the age of 7 months. Since then, the patient was treated for asthma without any satisfactory control of the disease. Cardiomegaly was finally diagnosed radiologically that led to cardiac assessment. Echocardiography suggested left sided partial anomalous pulmonary venous return that was not confirmed at angio-computed tomography scan and cardiac magnetic resonance imaging. Instead, total absence of the pericardium with relative left lung hypoplasia and left-sided bronchiectasis was diagnosed. Immune defect was confirmed. Adequate treatment by immunoglobulin supplementation and observance of the recommended care of bronchiectasis allowed favorable evolution. This case of an unusual association between an exceptional pericardial malformation and immune deficiency causing lower respiratory tract infections complicated by leftsided bronchiectasis highlights the absolute necessity to explore further any child with insufficient asthma control.

A novel 14q13.1\u201321.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

BackgroundChromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified.Case presentationWe performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients.ConclusionOur results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.