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Respiratory Failure: Pathogenesis, Diagnosis and Treatment

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 37010

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Special Issue Editor

Prof. Dr. Fabiano Di Marco

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Guest Editor

1. Department of Health Sciences, University of Milan, Milan, Italy
2. ASST Papa Giovanni XXIII, Bergamo, Italy
Interests: respiratory failure; spirometry and lung diffusion for carbon monoxide; asthma and COPD

Special Issue Information

Dear Colleagues,

Respiratory failure is a very common condition in daily clinical practice. Its treatment setting is heterogeneous, ranging from ordinary wards to intensive-care units, accordingly to the severity of the disease and the need for specific treatments. The recent coronavirus disease 2019 (Covid-19) pandemic, whose main manifestation is interstitial pneumonia possibly leading to respiratory failure, has demanded the structural and logistical reorganization of hospitals in order to face the emergency. As a consequence, also medical doctors who do not have a specialistic background in the treatment of respiratory failure have been involved in the management of these patients. On the one hand, the diagnosis of respiratory failure is simple and readily made by performing an arterial blood gas analysis (ABG) and is conventionally established in the presence of arterial oxygen tension (PaO₂) < 60 mmHg, arterial carbon dioxide tension (PaCO₂) > 45 mmHg, or both. However, the management of these patients requires a good understanding of cardiopulmonary physiology, which largely goes beyond an ABG evaluation. For instance, when considering the ratio between PaO₂ and fractional inspired oxygen (FiO₂), which is the most used severity index in clinical practice, it must be aknowledged that this relationship is far from being linear, depending on ventilation, perfusion, O₂arterio–venous difference, haemoglobin concentration, and shunt, with the latter being of remarkable importance. Eventually, also the treatment of respiratory failure can be challenging, especially when considering de novo respiratory failure, for which the choice of a noninvasive treatment approach—i.e., continuous positive airway pressure (CPAP), non invasive ventilation (NIV), or high-flow nasal cannula (HFNC)—is still debated. Thus, considering its pathophysiological and treatment complexity, respiratory failure represents a hot topic in research.

This Special Issue invites original research articles and reviews on the various aspects of respiratory failure.

Prof. Dr. Fabiano Di Marco
Guest Editor

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Keywords

Respiratory failure
Non-invasive ventilation
Acute respiratory distress syndrome
Dead space
Shunt

Published Papers (12 papers)

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Research

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10 pages, 1178 KiB

Open AccessArticle

Extent and Distribution of Parenchymal Abnormalities in Baseline CT-Scans Do Not Predict Awake Prone Positioning Response in COVID-19 Related ARDS

by Federico Raimondi, Sara Cazzaniga, Simona Annibali, Luca Novelli, Matteo Brivio, Simone Pappacena, Luca Malandrino, Pietro Andrea Bonaffini, Ilaria Bianco, Noemi Liggeri, Paolo Gritti, Ferdinando Luca Lorini, Sandro Sironi and Fabiano Di Marco

Diagnostics 2022, 12(8), 1848; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12081848 - 30 Jul 2022

Cited by 1 | Viewed by 1516

Abstract

Prone positioning is frequently used for non-intubated hypoxemic patients with COVID-19, although conclusive evidence is still lacking. The aim of the present study was to investigate whether baseline CT-scans could predict the improvement in oxygenation in COVID-19 related Acute respira-tory syndrome (ARDS) patients when pronated. Methods: A retrospective study of COVID-19 patients who underwent non-invasive ventilation (NIV) and prone positioning was conducted. Results: Forty-five patients were included. On average, 50% of the overall lung volume was affected by the disease, as observed in the CT-scans, with ground glass opacities (GGOs) and consolidations accounting for 44% and 4%, respectively. The abnormalities were mainly posterior, as demonstrated by posterior/anterior distribution ratios of 1.5 and 4.4 for GGO and consolidation, respectively. The median PaO₂/FiO₂ ratio during NIV in a supine position (SP1) was 140 [IQR 108–169], which improved by 67% (+98) during prone positioning, on average. Once supine positioning was resumed (SP2), the improvement in oxygenation was maintained in 28 patients (62% of the overall population, categorized as “responders”). We found no significant differences between responders and non-responders in terms of the extent (p = 0.92) and the distribution of parenchymal abnormalities seen in the baseline CT (p = 0.526). Conclusion: Despite the lack of a priori estimation of the sample size, considering the absence of any trends in the differences and correlations, we can reasonably conclude that the baseline chest CT-scan does not predict a gas-exchange response in awake prone-positioned patients with COVID-19 related ARDS. Physicians dealing with this category of patients should not rely on the imaging at presentation when evaluating whether to pronate patients. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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13 pages, 9757 KiB

Open AccessArticle

An Experimental Apparatus for E-Nose Breath Analysis in Respiratory Failure Patients

by Carmen Bax, Stefano Robbiani, Emanuela Zannin, Laura Capelli, Christian Ratti, Simone Bonetti, Luca Novelli, Federico Raimondi, Fabiano Di Marco and Raffaele L. Dellacà

Diagnostics 2022, 12(4), 776; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12040776 - 22 Mar 2022

Cited by 9 | Viewed by 2246

Abstract

Background: Non-invasive, bedside diagnostic tools are extremely important for tailo ring the management of respiratory failure patients. The use of electronic noses (ENs) for exhaled breath analysis has the potential to provide useful information for phenotyping different respiratory disorders and improving diagnosis, but their application in respiratory failure patients remains a challenge. We developed a novel measurement apparatus for analysing exhaled breath in such patients. Methods: The breath sampling apparatus uses hospital medical air and oxygen pipeline systems to control the fraction of inspired oxygen and prevent contamination of exhaled gas from ambient Volatile Organic Compounds (VOCs) It is designed to minimise the dead space and respiratory load imposed on patients. Breath odour fingerprints were assessed using a commercial EN with custom MOX sensors. We carried out a feasibility study on 33 SARS-CoV-2 patients (25 with respiratory failure and 8 asymptomatic) and 22 controls to gather data on tolerability and for a preliminary assessment of sensitivity and specificity. The most significant features for the discrimination between breath-odour fingerprints from respiratory failure patients and controls were identified using the Boruta algorithm and then implemented in the development of a support vector machine (SVM) classification model. Results: The novel sampling system was well-tolerated by all patients. The SVM differentiated between respiratory failure patients and controls with an accuracy of 0.81 (area under the ROC curve) and a sensitivity and specificity of 0.920 and 0.682, respectively. The selected features were significantly different in SARS-CoV-2 patients with respiratory failure versus controls and asymptomatic SARS-CoV-2 patients (p < 0.001 and 0.046, respectively). Conclusions: the developed system is suitable for the collection of exhaled breath samples from respiratory failure patients. Our preliminary results suggest that breath-odour fingerprints may be sensitive markers of lung disease severity and aetiology. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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11 pages, 1517 KiB

Open AccessArticle

The Impact of Age on In-Hospital Mortality in Critically Ill COVID-19 Patients: A Retrospective and Multicenter Study

by Pierrick Le Borgne, Quentin Dellenbach, Karine Alame, Marc Noizet, Yannick Gottwalles, Tahar Chouihed, Laure Abensur Vuillaume, Charles-Eric Lavoignet, Lise Bérard, Lise Molter, Stéphane Gennai, Sabrina Kepka, François Lefebvre and Pascal Bilbault

Diagnostics 2022, 12(3), 666; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12030666 - 09 Mar 2022

Cited by 7 | Viewed by 1886

Abstract

Introduction: For the past two years, healthcare systems worldwide have been battling the ongoing COVID-19 pandemic. Several studies tried to find predictive factors of mortality in COVID-19 patients. We aimed to research age as a predictive factor associated with in-hospital mortality in severe and critical SARS-CoV-2 infection. Methods: Between 1 March and 20 April 2020, we conducted a multicenter and retrospective study on a cohort of severe COVID-19 patients who were all hospitalized in the Intensive Care Unit (ICU). We led our study in nine hospitals of northeast France, one of the pandemic’s epicenters in Europe. Results: The median age of our study population was 66 years (58–72 years). Mortality was 24.6% (CI 95%: 20.6–29%) in the ICU and 26.5% (CI 95%: 22.3–31%) in the hospital. Non-survivors were significantly older (69 versus 64 years, p < 0.001) than the survivors. Although a history of cardio-vascular diseases was more frequent in the non-survivor group (p = 0.015), other underlying conditions and prior level of autonomy did not differ between the two groups. On multivariable analysis, age appeared to be an interesting predictive factor of in-hospital mortality. Thus, age ranges of 65 to 74 years (OR = 2.962, CI 95%: 1.231–7.132, p = 0.015) were predictive of mortality, whereas the group of patients aged over 75 years was not (OR = 3.084, CI 95%: 0.952–9.992, p = 0.06). Similarly, all comorbidities except for immunodeficiency (OR = 4.207, CI 95%: 1.006–17.586, p = 0.049) were not predictive of mortality. Finally, survival follow-up was obtained for the study population. Conclusion: Age appears to be a relevant predictive factor of in-hospital mortality in cases of severe or critical SARS-CoV-2 infection. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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9 pages, 624 KiB

Open AccessArticle

Biomarkers of Cholestasis and Liver Injury in the Early Phase of Acute Respiratory Distress Syndrome and Their Pathophysiological Value

by Lars-Olav Harnisch, Sophie Baumann, Diana Mihaylov, Michael Kiehntopf, Michael Bauer, Onnen Moerer and Michael Quintel

Diagnostics 2021, 11(12), 2356; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11122356 - 14 Dec 2021

Cited by 6 | Viewed by 1945

Abstract

Background: Impaired liver function and cholestasis are frequent findings in critically ill patients and are associated with poor outcomes. We tested the hypothesis that hypoxic liver injury and hypoxic cholangiocyte injury are detectable very early in patients with ARDS, may depend on the severity of hypoxemia, and may be aggravated by the use of rescue therapies (high PEEP level and prone positioning) but could be attenuated by extracorporeal membrane oxygenation (ECMO). Methods: In 70 patients with ARDS, aspartate-aminotransferase (AST), alanin-aminotransferase (ALT) and gamma glutamyltransferase (GGT) were measured on the day of the diagnosis of ARDS and three more consecutive days (day 3, day 5, day 10), total bile acids were measured on day 0, 3, and 5. Results: AST levels increased on day 0 and remained constant until day 5, then dropped to normal on day 10 (day 0: 66.5 U/l; day 3: 60.5 U/l; day 5: 63.5 U/l, day 10: 32.1 U/l), ALT levels showed the exact opposite kinetic. GGT was already elevated on day 0 (91.5 U/l) and increased further throughout (day 3: 163.5 U/l, day 5: 213 U/l, day 10: 307 U/l), total bile acids levels increased significantly from day 0 to day 3 (p = 0.019) and day 0 to day 5 (p < 0.001), but not between day 3 and day 5 (p = 0.217). Total bile acids levels were significantly correlated to GGT on day 0 (p < 0.001), day 3 (p = 0.02), and in a trend on day 5 (p = 0.055). PEEP levels were significantly correlated with plasma levels of AST (day 3), ALT (day 5) and GGT (day 10). Biomarker levels were not associated with the use of ECMO, prone position, the cause of ARDS, and paO₂. Conclusions: We found no evidence of hypoxic liver injury or hypoxic damage to cholangiocytes being caused by the severity of hypoxemia in ARDS patients during the very early phase of the disease. Additionally, mean PEEP level, prone positioning, and ECMO treatment did not have an impact in this regard. Nevertheless, GGT levels were elevated from day zero and rising, this increase was not related to paO₂, prone position, ECMO treatment, or mean PEEP, but correlated to total bile acid levels. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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13 pages, 2027 KiB

Open AccessArticle

The Association between Mechanical Power and Mortality in Patients with Pneumonia Using Pressure-Targeted Ventilation

by Huang-Pin Wu, Chien-Ming Chu, Li-Pang Chuang, Shih-Wei Lin, Shaw-Woei Leu, Ko-Wei Chang, Li-Chung Chiu, Pi-Hua Liu and Kuo-Chin Kao

Diagnostics 2021, 11(10), 1862; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11101862 - 10 Oct 2021

Cited by 7 | Viewed by 1856

Abstract

Recent studies have reported that mechanical power (MP) is associated with increased mortality in patients with acute respiratory distress syndrome (ARDS). We aimed to investigate the association between 28-day mortality and MP in patients with severe pneumonia. In total, the data of 313 patients with severe pneumonia were used for analysis. Serial MP was calculated daily for either 21 days or until ventilator support was no longer required. Compared with the non-ARDS group, the ARDS group (106 patients) demonstrated lower age, a higher Acute Physiology and Chronic Health Evaluation II score, lower history of diabetes mellitus, elevated incidences of shock and jaundice, higher MP and driving pressure on Day 1, and more deaths within 28 days. Regression analysis revealed that MP was an independent factor associated with 28-day mortality (odds ratio, 1.048; 95% confidence interval, 1.020–1.077). MP was persistently high in non-survivors and low in survivors among the ARDS group, the non-ARDS group, and all patients. These findings indicate that MP is associated with the 28-day mortality in ventilated patients with severe pneumonia, both in the ARDS and non-ARDS groups. MP had a better predicted value for the 28-day mortality than the driving pressure. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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14 pages, 754 KiB

Open AccessArticle

Differences between Acute Exacerbations of Idiopathic Pulmonary Fibrosis and Other Interstitial Lung Diseases

by Paola Faverio, Anna Stainer, Sara Conti, Fabiana Madotto, Federica De Giacomi, Matteo Della Zoppa, Ada Vancheri, Maria Rosaria Pellegrino, Roberto Tonelli, Stefania Cerri, Enrico M. Clini, Lorenzo Giovanni Mantovani, Alberto Pesci and Fabrizio Luppi

Diagnostics 2021, 11(9), 1623; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11091623 - 06 Sep 2021

Cited by 3 | Viewed by 2306

Abstract

Interstitial lung diseases (ILDs) comprise a wide group of pulmonary parenchymal disorders. These patients may experience acute respiratory deteriorations of their respiratory condition, termed “acute exacerbation” (AE). The incidence of AE-ILD seems to be lower than idiopathic pulmonary fibrosis (IPF), but prognosis and prognostic factors are largely unrecognized. We retrospectively analyzed a cohort of 158 consecutive adult patients hospitalized for AE-ILD in two Italian university hospitals from 2009 to 2016. Patients included in the analysis were divided into two groups: non-IPF (62%) and IPF (38%). Among ILDs included in the non-IPF group, the most frequent diagnoses were non-specific interstitial pneumonia (NSIP) (42%) and connective tissue disease (CTD)-ILD (20%). Mortality during hospitalization was significantly different between the two groups: 19% in the non-IPF group and 43% in the IPF group. AEs of ILDs are difficult-to-predict events and are burdened by relevant mortality. Increased inflammatory markers, such as neutrophilia on the differential blood cell count (HR 1.02 (CI 1.01–1.04)), the presence of pulmonary hypertension (HR 1.85 (CI 1.17–2.92)), and the diagnosis of IPF (HR 2.31 (CI 1.55–3.46)), resulted in negative prognostic factors in our analysis. Otherwise, lymphocytosis on the differential count seemed to act as a protective prognostic factor (OR 0.938 (CI 0.884–0.995)). Further prospective, large-scale, real-world data are needed to support and confirm the impact of our findings. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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13 pages, 1755 KiB

Open AccessArticle

Endothelial, Immunothrombotic, and Inflammatory Biomarkers in the Risk of Mortality in Critically Ill COVID-19 Patients: The Role of Dexamethasone

by Chrysi Keskinidou, Alice G. Vassiliou, Alexandros Zacharis, Edison Jahaj, Parisis Gallos, Ioanna Dimopoulou, Stylianos E. Orfanos and Anastasia Kotanidou

Diagnostics 2021, 11(7), 1249; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11071249 - 13 Jul 2021

Cited by 17 | Viewed by 2009

Abstract

Endothelial dysfunction, coagulation and inflammation biomarkers are increasingly emerging as prognostic markers of poor outcomes and mortality in severe and critical COVID-19. However, the effect of dexamethasone has not been investigated on these biomarkers. Hence, we studied potential prognostic biomarkers of mortality in critically ill COVID-19 patients who had either received or not dexamethasone. Biomarker serum levels were measured on intensive care unit (ICU) admission (within 24 h) in 37 dexamethasone-free and 29 COVID-19 patients who had received the first dose (6 mg) of dexamethasone. Receiver operating characteristic (ROC) curves were generated to assess their value in ICU mortality prediction, while Kaplan–Meier analysis was used to explore associations between biomarkers and survival. In the dexamethasone-free COVID-19 ICU patients, non-survivors had considerably higher levels of various endothelial, immunothrombotic and inflammatory biomarkers. In the cohort who had received one dexamethasone dose, non-survivors had higher ICU admission levels of only soluble (s) vascular cell adhesion molecule-1 (VCAM-1), soluble urokinase-type plasminogen activator receptor (suPAR) and presepsin. As determined from the generated ROC curves, sVCAM-1, suPAR and presepsin could still be reliable prognostic ICU mortality biomarkers, following dexamethasone administration (0.7 < AUC < 0.9). Moreover, the Kaplan–Meier survival analysis showed that patients with higher than the median values for sVCAM-1 or suPAR exhibited a greater mortality risk than patients with lower values (Log-Rank test, p < 0.01). In our single-center study, sVCAM-1, suPAR and presepsin appear to be valuable prognostic biomarkers in assessing ICU mortality risk in COVID-19 patients, even following dexamethasone administration. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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Review

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13 pages, 471 KiB

Open AccessReview

Early Identification and Diagnostic Approach in Acute Respiratory Distress Syndrome (ARDS)

by François Arrivé, Rémi Coudroy and Arnaud W. Thille

Diagnostics 2021, 11(12), 2307; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11122307 - 08 Dec 2021

Cited by 7 | Viewed by 3361

Abstract

Acute respiratory distress syndrome (ARDS) is a life-threatening condition defined by the acute onset of severe hypoxemia with bilateral pulmonary infiltrates, in the absence of a predominant cardiac involvement. Whereas the current Berlin definition was proposed in 2012 and mainly focused on intubated patients under invasive mechanical ventilation, the recent COVID-19 pandemic has highlighted the need for a more comprehensive definition of ARDS including patients treated with noninvasive oxygenation strategies, especially high-flow nasal oxygen therapy, and fulfilling all other diagnostic criteria. Early identification of ARDS in patients breathing spontaneously may allow assessment of earlier initiation of pharmacological and non-pharmacological treatments. In the same way, accurate identification of the ARDS etiology is obviously of paramount importance for early initiation of adequate treatment. The precise underlying etiological diagnostic (bacterial, viral, fungal, immune, malignant, drug-induced, etc.) as well as the diagnostic approach have been understudied in the literature. To date, no clinical practice guidelines have recommended structured diagnostic work-up in ARDS patients. In addition to lung-protective ventilation with the aim of preventing worsening lung injury, specific treatment of the underlying cause has a central role to improve outcomes. In this review, we discuss early identification of ARDS in non-intubated patients breathing spontaneously and propose a structured diagnosis work-up. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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12 pages, 1270 KiB

Open AccessReview

Management of COVID-19-Associated Acute Respiratory Failure with Alternatives to Invasive Mechanical Ventilation: High-Flow Oxygen, Continuous Positive Airway Pressure, and Noninvasive Ventilation

by Barbara Bonnesen, Jens-Ulrik Stæhr Jensen, Klaus Nielsen Jeschke, Alexander G. Mathioudakis, Alexandru Corlateanu, Ejvind Frausing Hansen, Ulla Møller Weinreich, Ole Hilberg and Pradeesh Sivapalan

Diagnostics 2021, 11(12), 2259; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11122259 - 02 Dec 2021

Cited by 19 | Viewed by 8681

Abstract

Patients admitted to hospital with coronavirus disease 2019 (COVID-19) may develop acute respiratory failure (ARF) with compromised gas exchange. These patients require oxygen and possibly ventilatory support, which can be delivered via different devices. Initially, oxygen therapy will often be administered through a conventional binasal oxygen catheter or air-entrainment mask. However, when higher rates of oxygen flow are needed, patients are often stepped up to high-flow nasal cannula oxygen therapy (HFNC), continuous positive airway pressure (CPAP), bilevel positive airway pressure (BiPAP), or invasive mechanical ventilation (IMV). BiPAP, CPAP, and HFNC may be beneficial alternatives to IMV for COVID-19-associated ARF. Current evidence suggests that when nasal catheter oxygen therapy is insufficient for adequate oxygenation of patients with COVID-19-associated ARF, CPAP should be provided for prolonged periods. Subsequent escalation to IMV may be implemented if necessary. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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13 pages, 601 KiB

Open AccessReview

Usefulness of Lung Ultrasound in Paediatric Respiratory Diseases

by Francesco Sansone, Marina Attanasi, Paola Di Filippo, Giuseppe Francesco Sferrazza Papa, Sabrina Di Pillo and Francesco Chiarelli

Diagnostics 2021, 11(10), 1783; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11101783 - 28 Sep 2021

Cited by 17 | Viewed by 2894

Abstract

Respiratory infection diseases are among the major causes of morbidity and mortality in children. Diagnosis is focused on clinical presentation, yet signs and symptoms are not specific and there is a need for new non-radiating diagnostic tools. Among these, lung ultrasound (LUS) has recently been included in point-of-care protocols showing interesting results. In comparison to other imaging techniques, such as chest X-ray and computed tomography, ultrasonography does not use ionizing radiations. Therefore, it is particularly suitable for clinical follow-up of paediatric patients. LUS requires only 5–10 min and allows physicians to make quick decisions about the patient’s management. Nowadays, LUS has become an early diagnostic tool to detect pneumonia during the COVID-19 pandemic. In this narrative review, we show the most recent scientific literature about advantages and limits of LUS performance in children. Furthermore, we discuss the major paediatric indications separately, with a paragraph fully dedicated to COVID-19. Finally, we mention potential future perspectives about LUS application in paediatric respiratory diseases. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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13 pages, 481 KiB

Open AccessReview

Clinical Value of Bronchoscopy in Acute Respiratory Failure

by Raffaele Scala and Luca Guidelli

Diagnostics 2021, 11(10), 1755; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11101755 - 24 Sep 2021

Cited by 2 | Viewed by 4209

Abstract

Bronchoscopy may be considered the “added value” in the diagnostic and therapeutic pathway of different clinical scenarios occurring in acute respiratory critically ill patients. Rigid bronchoscopy is mainly employed in emergent clinical situations due to central airways obstruction, haemoptysis, and inhaled foreign body. Flexible bronchoscopy (FBO) has larger fields of acute applications. In intensive care settings, FBO is useful to facilitate intubation in difficult airways, guide percutaneous dilatational tracheostomy, and mucous plugs causing lobar/lung atelectasis. FBO plays a central diagnostic role in acute respiratory failure caused by intra-thoracic tumors, interstitial lung diseases, and suspected severe pneumonia. “Bronchoscopic” sampling has to be considered when “non-invasive” techniques are not diagnostic in suspected ventilator-associated pneumonia and in non-ventilated immunosuppressed patients. The combined use of either noninvasive ventilation (NIV) or High-flow nasal cannula (HFNC) with bronchoscopy is useful in different scenarios; the largest body of proven successful evidence has been found for NIV-supported diagnostic FBO in non-ventilated high risk patients to prevent and avoid intubation. The expected diagnostic/therapeutic goals of acute bronchoscopy should be balanced against the potential severe risks (i.e., cardio-pulmonary complications, bleeding, and pneumothorax). Expertise of the team is fundamental to achieve the best rate of success with the lowest rate of complications of diagnostic and therapeutic bronchoscopic procedures in acute clinical circumstances. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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Other

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9 pages, 1960 KiB

Open AccessCase Report

Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation

by Justyna Rogulska, Katarzyna Wróblewska-Seniuk, Robert Śmigiel, Jarosław Szydłowski and Tomasz Szczapa

Diagnostics 2022, 12(5), 1084; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12051084 - 26 Apr 2022

Cited by 2 | Viewed by 2345

Abstract

Surfactant is a complex of phospholipids and proteins produced in type II pneumocytes. Its deficiency frequently occurs in preterm infants and causes respiratory distress syndrome. In full-term newborns, its absence results from mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes involved in the surfactant metabolism. ABCA3 encodes ATP-binding cassette, which is responsible for transporting phospholipids in type II pneumocytes. We present a case of a male late preterm newborn with inherited surfactant deficiency in whom we identified the likely pathogenic c.604G>A variant in one allele and splice region/intron variant c.4036-3C>G of uncertain significance in the second allele of ABCA3. These variants were observed in trans configuration. We discuss the diagnostic challenges and the management options. Although invasive treatment was introduced, only temporary improvement was observed. We want to raise awareness about congenital surfactant deficiency as a rare cause of respiratory failure in term newborns. Full article

(This article belongs to the Special Issue Respiratory Failure: Pathogenesis, Diagnosis and Treatment)

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