Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Research status of east Asian traditional medicine treatment for chronic cough: A scoping review.

BACKGROUND: When patients continue to experience cough despite conventional treatment, East Asian traditional medicine (EATM) including herbal medicine and/or acupuncture has been frequently used. Previous systematic reviews of EATM treatment for chronic cough have been conducted mainly on herbal medicine, targeting patients with conditions that cause cough. In clinical practice, EATM interventions are not limited to herbal medicine, and considering that chronic cough is often caused by two or more conditions or unspecific causes, a comprehensive investigation is clinically relevant. We examined the current research status of EATM for chronic cough. METHODS: Based on Arksey and O'Malley's scoping review methodological framework, a total of six English, Chinese, Korean, and Japanese electronic databases were searched on August 2022. Any clinical studies on EATM targeting chronic cough patients (regardless of their cause) were included. RESULTS: Among 474 included studies, the study designs were mainly randomized controlled trials (72.4%), and the population was evenly distributed between children and adults. The cause of cough was not reported in most studies (56.1%). The common cause of cough was upper airway cough syndrome and post-respiratory infection (9.5%, each), followed by mixed cause (7.6%), nonspecific cause (5.9%), and gastroesophageal reflux disease (4.0%). EATM was conducted for a mean of 19.1 days, and herbal medicine was the most common (80.6%). Conventional medication was frequently used as a control (81.2%). For outcomes, the total effective rate was the most frequently utilized (94.3%), followed by cough severity (53.8%). EATM treatment showed positive outcomes in most studies. CONCLUSIONS: In future EATM studies, it is necessary to either specify the cause of chronic cough or to report that the study was targeting nonspecific chronic cough. In addition, high-quality studies assessing the efficacy of EATM with placebo control treatment should be conducted, using validated evaluation tools.

[Chronic cough in adult patients-evidence-based approach]. / Chronischer Husten bei erwachsenen Patienten ­ evidenzbasiertes Vorgehen.

Approximately 10% of the population suffer from a cough lasting longer than 8 weeks. Compared to acute cough, which usually occurs in the context of banal respiratory tract infections, the differential diagnoses of chronic cough require an increased use of diagnostic tests and thus a structured, evidence-based approach according to current international guidelines. A targeted history (smoking status, medication, previous diseases) and ENT status are always followed by chest x­ray and pulmonary function tests before extended diagnostics. In the case of angiotensin-converting enzyme (ACE) inhibitor use and unremarkable physical examination, a drug discontinuation test can be carried out first. In case of inconspicuous findings, a disease entity that can be treated empirically such as upper airway cough syndrome is most likely. If the cough remains unexplained, cough suppression techniques, physiotherapy or speech therapy should be sought before off-label-use of medication.

Dysregulation of CITED2 in abnormal lung development in the nitrofen rat model.

PURPOSE: CITED2 both modulates lung, heart and diaphragm development. The role of CITED2 in the pathogenesis of congenital diaphragmatic hernia (CDH) is unknown. We aimed to study CITED2 during abnormal lung development in the nitrofen model. METHODS: Timed-pregnant rats were given nitrofen on embryonic day (E) 9 to induce CDH. Fetal lungs were harvested on E15, 18 and 21. We performed RT-qPCR, RNAscope™ in situ hybridization and immunofluorescence staining for CITED2. RESULTS: We observed no difference in RT-qPCR (control: 1.09 ± 0.22 and nitrofen: 0.95 ± 0.18, p = 0.64) and in situ hybridization (1.03 ± 0.03; 1.04 ± 0.03, p = 0.97) for CITED2 expression in E15 nitrofen and control pups. At E18, CITED2 expression was reduced in in situ hybridization of nitrofen lungs (1.47 ± 0.05; 1.14 ± 0.07, p = 0.0006), but not altered in RT-qPCR (1.04 ± 0.16; 0.81 ± 0.13, p = 0.33). In E21 nitrofen lungs, CITED2 RNA expression was increased in RT-qPCR (1.04 ± 0.11; 1.52 ± 0.17, p = 0.03) and in situ hybridization (1.08 ± 0.07, 1.29 ± 0.04, p = 0.02). CITED2 protein abundance was higher in immunofluorescence staining of E21 nitrofen lungs (2.96 × 109 ± 0.13 × 109; 4.82 × 109 ± 0.25 × 109, p < 0.0001). CONCLUSION: Our data suggest that dysregulation of CITED2 contributes to abnormal lung development of CDH, as demonstrated by the distinct spatial-temporal distribution in nitrofen-induced lungs.

Congenital laryngo-tracheo-esophageal clefts: updates from a quaternary care pediatric airway unit.

PURPOSE: To review the operative techniques, outcomes, and complications following surgery in pediatric patients with laryngo-tracheo-esophageal clefts (LTEC). We describe a new combined approach to treat long LTECs. METHODS: Twenty-five patients underwent surgical repair for LTEC from March 2012 to July 2022 at our hospital. Every patient underwent a diagnostic endoscopy under general anesthesia and spontaneous ventilation to assess the LTEC and synchronous aero-digestive comorbidities/malformations. All patients underwent at least one surveillance endoscopy after the repair at our institution. RESULTS: The patients had multiple other malformations, specifically gastro-intestinal, synchronous airway, and cardiac. The cleft distribution according to the modified Benjamin and Inglis classification was type I (n = 5, 20%), type II (n = 6, 24%), type IIIa (n = 8, 32%), type IIIb (n = 4, 16%), and type IVa (n = 2, 8%). The median follow-up was 44.6 months. Five patients (20%) had undergone previous cleft corrective surgery(s). Seven patients (28%) had partial to complete breakdown of the repair, needing additional intervention(s), and two required a combined-open plus endoscopic repair. Preoperatively, most patients (n = 18, 72%) needed a feeding assistance. At latest follow-up, feeding assistance was weaned off in 13 out of 18 patients, which was a 72% improvement. Ten patients (40%) needed ventilation assistance before the surgery. Post-operatively, ventilatory assistance was weaned off in 6 patients, meaning a 60% improvement. CONCLUSION: LTEC are rare malformations, and their management needs precise diagnosis, appropriate surgical planning, and execution, and dedicated post-operative care. Primary and revision repair of long clefts with tracheal extension may require a combined approach.

Management and Outcomes of Patients With High-Risk (Congenital Lung Malformation Volume Ratio≥ 1.6) Congenital Lung Malformations.

INTRODUCTION: Congenital lung malformations (CLMs) have a variable natural history. Larger lesions with CLM volume ratio (CVR) ≥ 1.6 are associated with hydrops and fetal mortality. The purpose of this study is to describe the management and outcomes of high-risk (CVR ≥ 1.6) CLM patients. METHODS: A retrospective cohort study was performed for all fetuses evaluated between May 2015 and May 2022. Demographics, prenatal imaging factors, prenatal and postnatal treatment, and outcomes were collected. Descriptive statistics were used to compare the cohorts. RESULTS: Of 149 fetal CLM patients referred to our fetal center, 21/149 (14%) had CVR ≥ 1.6. One CLM patient had intrauterine fetal demise, and 2 patients were lost to follow-up. Of the remaining 18 patients, 11/18 (67%) received maternal steroids. Seven out of 18 patients (39%) underwent resection at the time of delivery with 1/7 (14%) undergoing exutero intrapartum treatment (EXIT)-to-resection, 5/7 (71%) undergoing EXIT-to-exteriorization-to-resection, and 1/7 (14%) undergoing a coordinated delivery to resection; among those undergoing resection, there were 2 fatalities (28.5%). Seven out of 18 (39%) patients required urgent neonatal open lobectomies, and the remaining 4/18 (22%) patients underwent elective thoracoscopic lobectomies with no mortality. CONCLUSIONS: The natural history and outcomes of severe CLM patients remain highly variable. The EXIT-to-exteriorization-to-resection procedure may be a safe and effective approach for a subset of CLM patients with persistent symptoms of mass effect and severe mediastinal shift due to the observed decreased operative time requiring placental support observed in our study.

Novel Clinical Algorithm for Prenatal Monitoring of Congenital Lung Malformations.

INTRODUCTION: Congenital lung malformations (CLMs) are readily identified early in pregnancy with a variable natural history. Monitoring for lesion size and mediastinal shift (MS) is recommended following diagnosis. The purpose of this study is to propose a risk-stratified clinical algorithm for prenatal monitoring of CLM. METHODS: After ethical approval, all fetuses with CLMs evaluated at our fetal center from January 2015 to June 2022 were retrospectively reviewed. Patient demographics, imaging characteristics, and fetal interventions were collected. Lesions were stratified by congenital lung malformation volume ratio (CVR) and the presence of MS. Descriptive statistics and receiver operating characteristic curves were employed in the analysis. RESULTS: We analyzed 111 patients with a mean of 23.4 wk gestational age, a median CVR of 0.5 (interquartile range, 0.3-1.2), and MS in 76 of 111(68%) patients on initial evaluation. Among low-risk patients (CVR ≤1.1), 96% remained low-risk on final evaluation. No patients transitioned from low to high risk during the growth period. Patients with CVR >1.1 often had persistent MS (P < 0.001). Hydrops (5/111, 5%) and fetal intervention (4/111, 4%) only occurred in patients with CVR >1.1 (P < 0.001, P = 0.002) and MS (P = 0.144, P = 0.214). On receiver operating characteristic curve analysis, initial CVR >1.1 had 100% sensitivity and negative predictive value for hydrops and fetal intervention. CONCLUSIONS: CLMs with initial CVR ≤1.1 are low risk for hydrops and fetal intervention. We propose a risk-stratified algorithm for the monitoring of CLM during the growth period based on CVR. While our experience suggests that patients with CLM and MS are at higher risk, the current subjective assessment of MS is not adequately predictive. Incorporating an MS grading system may further refine risk stratification in the management of CLM.

Concordancia entre el diagnóstico por imagen y la histología en las malformaciones pulmonares congénitas / Diagnostic accuracy of imaging compared to histology in congenital lung malformations

Introducción: El objetivo fue evaluar la concordancia entre las pruebas de imagen, la ecografía prenatal y la TC posnatal empleadas en el diagnóstico de malformaciones pulmonares congénitas (MPC) y el estudio anatomopatológico (AP).Material y métodos: Estudio retrospectivo de pacientes diagnosticados prenatalmente de MPC en los que se realizó seguimiento posnatal incluyendo una TC y un estudio AP de la lesión. Las variables estudiadas incluyeron: datos demográficos, edad gestacional al diagnóstico, hallazgos ecográficos y existencia de gestación múltiple. Utilizamos el coeficiente estadístico Kappa para establecer la concordancia entre la ecografía y las pruebas postnatales (TC y AP). Se analizaron de forma pareada la presencia de lesiones, la localización, el tipo y el tamaño, y la presencia de vascularización sistémica.Resultados: Se incluyeron 56 pacientes con 57 lesiones. La edad gestacional media al diagnóstico fue 22,42±3,94 semanas y el 57% fueron varones. El pulmón izquierdo y los lóbulos inferiores fueron los más afectados. La concordancia entre TC y AP en la detección de lesiones quísticas fue moderada (Kappa=0,55) pero más relevante que la detectada entre ecografía y AP (Kappa=0,10), siendo discreta entre ambas pruebas de imagen. La concordancia TC/AP fue sustancial (Kappa=0,66) en la detección de vascularización sistémica de la lesión y superior a la determinada entre ecografía y AP. Ambas pruebas de imagen demostraron una precisión muy buena en la identificación de la localización de las lesiones.Conclusiones: La TC posnatal ofrece una concordancia sustancial con el estudio histológico, especialmente en la detección de vascularización, y nos aporta datos predecibles sobre la anatomía de la lesión.(AU)

Introduction: The aim of this study was to evaluate the accuracy of imaging tests (prenatal ultrasound [US] and postnatal computed tomography [CT]) in comparison to histology for diagnosis of congenital lung malformations (CLMs).Material and methods: Retrospective study of patients with a prenatal diagnosis of CLM whose postnatal followup included thoracic CT scan and histological examination of the lesion. We collected data on demographic variables, gestational age at diagnosis, US findings and the history of multiple gestation. We used the kappa coefficient to determine the level of agreement between the findings of prenatal US and postnatal tests (CT and histology). We analysed paired data on the size of the lesion, its location and the presence or absence of systemic arterial vascularization.Results: The sample included 56 patients with 57 lesions. The mean gestational age at diagnosis was 22.42 weeks (SD, 3.94) and 57% were male. Malformations most frequently involved the left lung and the lower lobes. The agreement between CT and histology in the detection of cystic lesions was moderate (κ=.55) but stronger compared to the agreement between US and histology (κ=.10). The agreement between CT and histology was substantial (κ=.66) in the detection of systemic vascularization of the lesion and stronger compared to the agreement between US and histology. Both imaging methods were highly accurate in the identification of the location of the pulmonary lesions.Conclusions: Postnatal CT offers a substantial concordance with histological findings, especially in the detection of systemic vascularization, and an accurate prediction of the anatomy of the lesion.(AU)

Pulmonary function after lobectomy in children: a systematic review and meta-analysis.

BACKGROUND: The influence of lobectomy on pulmonary function in children was still controversial. A systematic review and meta-analysis were essential to explore whether pulmonary function was impaired after lobectomy in children. METHODS: PubMed, Embase and Web of Science were searched from 1 January 1946 to 1 July 2022. Forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), FEV1/FVC and total lung capacity were extracted from the studies as the primary analysis indicators. Subgroup analyses were performed between the congenital lung malformation (CLM) group and other diseases group, early surgery and late surgery group (1 year old as the dividing line). RESULTS: A total of 5302 articles were identified through the search strategy; finally, 10 studies met the inclusion criteria. Through the meta-analysis, we found a mild obstructive ventilatory disorder in children who underwent lobectomy. However, a normal pulmonary function could be found in young children with CLM who underwent lobectomy, and the time of operation had no significant influence on their pulmonary function. CONCLUSIONS: The overall result of pulmonary function after lobectomy in children was good. Surgeons may not need to be excessively concerned about the possibility of lung surgery affecting pulmonary function in children, particularly in patients with CLM. PROSPERO REGISTRATION NUMBER: CRD42022342243.

Congenital pulmonary malformations in children in a pediatric hospital in Peru, 2010-2020.

BACKGROUND: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. METHODS: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment. RESULTS: The sample was formed of 70 patients. The median age was 29 months (range 15 days-14 years) and the male/female ratio was 1.4. The chest tomography found parenchymal involvement in 50 (71.4%) cases and mixed involvement (parenchymal and vascular) in 18 (25.7%) cases. Congenital malformation of the pulmonary airway was present in 39 (55.7%) cases, followed by bronchogenic cyst in 10 (14.3%), intralobar pulmonary sequestration in 9 (12.9%), and extralobar pulmonary sequestration in 7 (10%). Lobectomy was performed in 61 (87.1%) cases, cystectomy in 5 (7.1%), segmentectomy in 2 (2.9%), and embolization in 2 (2.9%). The most frequent post-operative complication was pneumonia, found in 9 (12.9%) cases. The median hospital stay was 26 days. No patient died during hospitalization. CONCLUSIONS: In our institution, the most frequent CPM was congenital malformation of the pulmonary airway, and lobectomy was the most frequently performed surgical procedure. CPMs represent a diverse group of disorders of lung development with varied imaging patterns and clinical manifestations.

INTRODUCCIÓN: Las malformaciones pulmonares congénitas son poco frecuentes en niños. El objetivo de este estudio fue describir las características clínicas, imagenológicas y tratamiento de los pacientes con esta patología. MÉTODOS: Se llevó a cabo un estudio descriptivo y retrospectivo con datos de los pacientes con malformaciones pulmonares congénitas diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú) entre enero 2010 y diciembre 2020. Se describieron las características clínicas, imagenológicas, el tipo de malformación pulmonar congénita y el tratamiento. RESULTADOS: La muestra fue de 70 pacientes. La mediana de edad fue 29 meses, la relación masculino/femenino fue 1.4. En la tomografía de tórax se encontró compromiso parenquimal en 50 (71.4%) casos, y compromiso mixto (parenquimal y vascular) en 18 (25.7%). La malformación congénita de la vía aérea pulmonar se observó en 39 (55.7%) casos, seguida del quiste broncogénico en 10 (14.3%), secuestro pulmonar intralobar en 9 (12.9%) y secuestro pulmonar extralobar en 7 (10%). La lobectomía fue realizada en 61 (87.1%) casos, la quistectomía en 5 (7.1%), segmentectomía en 2 (2.9%) y embolización en 2 (2.9%). La complicación posquirúrgica más frecuente fue la neumonía en 9 (12.9%) casos. La mediana de estancia hospitalaria fue de 26 días. Ningún paciente falleció durante la hospitalización. CONCLUSIONES: En nuestra institución, la malformación pulmonar congénita más frecuente fue la malformación congénita de la vía aérea pulmonar, y la lobectomía el procedimiento quirúrgico más comúnmente realizado. Las malformaciones pulmonares congénitas representan un grupo diverso de trastornos del desarrollo pulmonar con variados patrones imagenológicos y manifestaciones clínicas.

The utility of balloon dilation for piriform aperture stenosis - A first line surgical treatment.

AIM: Describe the long-term outcomes of patients with piriform aperture stenosis managed with balloon dilation. METHODS: Review of current literature. A retrospective case series of 6 patients with piriform aperture stenosis initially managed with balloon dilation at a tertiary paediatric hospital. RESULTS: Six neonates diagnosed with piriform aperture were managed with balloon dilation under general anaesthesia after failing conservative treatment. Average age at first dilation was 28 days old (range 6-54). The piriform aperture was an average width of 5.15 mm, with a 4-6.5 mm range, as measured on axial CT scan. The average width at 25% of the nasal cavity, 50% and 75% was 7.7 mm, 9.3 mm and 9.98 mm respectively. Four neonates required only a single balloon dilation - two of these were stented post-operatively. The remaining two neonates required multiple balloon dilations with eventual drill-out through a sublabial approach. There was a trend of smaller piriform and nasal cavity diameters in those who required multiple procedures. The mean follow-up was 30 months. CONCLUSION: Balloon dilation should be considered for primary operative management in neonates with piriform aperture stenosis who fail medical interventions. Balloon dilation can treat the narrowing at and beyond the piriform aperture. Patients who require more than one dilation are more likely to have a smaller piriform aperture and may need a drill-out procedure. The impact of nasal stents on outcomes is unclear.

Concept Analysis of the Nursing Diagnosis of Impaired Spontaneous Ventilation in Critical Patients / Análisis de concepto del diagnóstico de la ventilación espontánea deteriorada en pacientes críticos / Análise conceitual do diagnóstico de ventilação espontânea prejudicada em pacientes críticos

Introduction: In nursing practice, this concept has been identified in studies that address the nursing diagnosis of impaired spontaneous ventilation. Nursing performance facing this unwanted human response is considered essential for the maintenance and control of vital signs, cardiovascular monitoring, gas exchange and respiratory pattern, as well as constant surveillance aimed at signs of hypoventilation and inadequate ventilation. Objective: To analyze the concept of impaired spontaneous ventilation in critically ill patients in an intensive care unit. Methodology: This study is a concept analysis, according to Walker's and Avant's method, conducted using an integrative review. All the referential steps were followed: concept selection, determining the objectives and proposals for concept analysis, identifying the possible uses of the concept, determining the defining attributes, identifying a model case, identifying a contrary case, and identifying the precedents and consequences of the concept. Results: A sample of 38 studies was selected. The following were identified as attributes: distress and fatigue, respiratory distress, tachycardia, hemodynamic instability, altered mental status, abnormal arterial blood gas results, dyspnea, anxiety, agitation, sweating, hypoxemia and hypercapnia. Antecedents: sex, age, oxygen saturation lower than 90%, diseases of the respiratory, cardiovascular, neurological, gastrointestinal, neuromuscular, and metabolic systems, respiratory infections, trauma, poisons, toxins, and sedatives. Consequences: increased heart rate, decreased partial oxygen saturation, increased use of respiratory muscles, dyspnea, increased metabolic rate and restlessness. The model case and the contrary case were used to illustrate the attributes, antecedents, and consequences. Conclusion: The study directed the strengthening of evidence about the phenomenon and demonstrated a strong occurrence in patients who need assistance in intensive care units, thus demanding critical care.

Introducción: en la práctica de enfermería, este concepto fue identificado en estudios que abordan el diagnóstico de la ventilación espontánea deteriorada. La actuación desde enfermería para enfrentar esta indeseada respuesta humana es esencial para el mantenimiento y el control de los signos vitales, el monitoreo cardiovascular, el intercambio de gases y el patrón de respiración, así como para la vigilancia constante de los signos de hipoventilación y ventilación inadecuada. Objetivo: analizar el concepto de ventilación espontánea deteriorada en pacientes críticos en una unidad de cuidado intensivo. Metodología: Este estudio es un análisis de concepto, de acuerdo con el método de Walker y Avant, conducido usando una revisión integrada. Se siguieron todos los pasos referenciales: selección del concepto, determinación de los objetivos y propuestas para el análisis de conceptos, identificación de los posibles usos del concepto, determinar los atributos definitorios, identificación del caso modelo, identificación del caso contrario e identificación de precedentes y consecuencias del concepto. Resultados: se seleccionó una muestra de 38 estudios. Se identificaron como atributos: angustia y fatiga, dificultad respiratoria, taquicardia, inestabilidad hemodinámica, estado mental alterado, gasometría arterial anormal, disnea, ansiedad, agitación, sudoración, hipoxemia e hipercapnia. Antecedentes: sexo; edad; saturación de oxígeno inferior al 90%; enfermedades de los sistemas respiratorio, cardiovascular, neurológico, gastrointestinal, neuromuscular y metabólico; infecciones respiratorias; traumatismos, y venenos, toxinas y sedantes. Consecuencias: aumento del ritmo cardíaco, disminución de la saturación parcial de oxígeno, aumento del uso de los músculos respiratorios, disnea, aumento del índice metabólico e inquietud. Se utilizaron el caso modelo y el caso contrario para ilustrar los atributos, antecedentes y consecuencias. Conclusión: el estudio dirigió el fortalecimiento de la evidencia sobre el fenómeno y demostró una fuerte ocurrencia en pacientes que necesitan asistencia en unidades de cuidados intensivos, quienes requieren, en consecuencia, de cuidados críticos.

Introdução: na prática da enfermagem, esse conceito foi identificado em estudos que abordaram o diagnóstico de ventilação espontânea prejudicada. A atuação da enfermagem para enfrentar essa resposta humana indesejável é essencial para a manutenção e o controle dos sinais vitais, da monitorização cardiovascular, das trocas gasosas e do padrão respiratório, bem como para a vigilância constante dos sinais de hipoventilação e ventilação inadequada. Objetivo: analisar o conceito de ventilação espontânea prejudicada em pacientes graves internados em uma unidade de terapia intensiva. Materiais e método: este estudo é uma análise conceitual, de acordo com o método de Walker e Avant, realizada por meio de uma revisão integrada. Todas as etapas referenciais foram seguidas: seleção do conceito, determinação dos objetivos e proposições para a análise do conceito, identificação dos possíveis usos do conceito, determinação dos atributos definidores, identificação do caso-modelo, identificação do contracaso e identificação dos precedentes e consequências do conceito. Resultados: foi selecionada uma amostra de 38 estudos. Os atributos identificados foram angústia e fadiga, angústia respiratória, taquicardia, instabilidade hemodinâmica, estado mental alterado, gases sanguíneos arteriais anormais, dispneia, ansiedade, agitação, sudorese, hipoxemia e hipercapnia. Antecedentes: sexo; idade; saturação de oxigênio inferior a 90%; doenças dos sistemas respiratório, cardiovascular, neurológico, gastrointestinal, neuromuscular e metabólico; infecções respiratórias; trauma; e venenos, toxinas e sedativos. Consequências: aumento da frequência cardíaca, diminuição da saturação parcial de oxigênio, aumento do uso dos músculos respiratórios, dispneia, aumento da taxa metabólica e inquietação. O caso-modelo e o caso oposto foram usados para ilustrar os atributos, os antecedentes e as consequências. Conclusões: o estudo teve como objetivo fortalecer as evidências sobre o fenômeno e demonstrou uma forte ocorrência em pacientes que necessitam de assistência em unidades de terapia intensiva e que, consequentemente, requerem cuidados críticos.

Esophageal lung complicated by recurrent pneumonia.

A 6-month-old infant with recurrent respiratory infections, rapid breathing, and reduced air entry on the right side was diagnosed with congenital bronchopulmonary foregut malformation (CBPFM). Imaging revealed a collapsed and underdeveloped right lung, with the right bronchus appearing to originate from the lower part of the esophagus. An esophagogram confirmed the diagnosis by showing contrast flowing freely from the lower esophagus to the right bronchus.

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.

Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic adenomatoid malformation, extra- and intralobar sequestration (EIS), congenital lobar emphysema (overexpansion), and bronchogenic cyst. The developmental model of CPAM histogenesis by Stocker proposed perturbations designated as CPAM type 0 to type 4 without known or specific pathogenetic mechanisms along the airway from the bronchus to the alveolus. This review highlights mutational events either at the somatic level in KRAS (CPAM types 1 and possibly 3) or germline variants in congenital acinar dysplasia, formerly CPAM type 0, and pleuropulmonary blastoma (PPB), type I, formerly CPAM type 4. The potential for overt malignant progression exists in the case of PPB type I and CPAM type 1 in some cases to well-differentiated mucinous adenocarcinoma. On the other hand, CPAM type 2 is an acquired lesion resulting from interruption in lung development secondary to bronchial atresia. The latter is also regarded as the etiology of EIS whose pathologic features are similar, if not identical, to CPAM type 2. These observations have provided important insights into the pathogenetic mechanisms in the development of the CPAMs since the Stocker classification.

Whole genome sequencing analysis of four patients: Are de novo copy number variations in non-coding region responsible for microtia with lung hypoplasia?

BACKGROUND: Microtia is a congenital malformation of the out ear, occurring either as an isolated defect or part of a specific pattern of multiple congenital anomalies. The etiology of microtia is poorly understood. Four patients with microtia and lung hypoplasia were reported by our team in a previous article. The purpose of this study was to identify the underlying genetic basis, mainly focusing on de novo copy number variations (CNVs) embedded in the noncoding region, in the four subjects. METHODS: DNA samples from all four patients and their unaffected parents were extracted for whole-genome sequencing on the Illumina platform. All variants were obtained through data quality control, variant calling and bioinformatics analysis. De novo strategy was used to prioritize the variants, and candidate variants were verified by PCR amplification combined with Sanger sequencing and visual inspection of bam file. RESULTS: Whole gene sequencing following bioinformatics analysis showed no potential de novo pathogenic variants in the coding region. Nonetheless, four de novo CNVs in the non-coding region, intronic or intergenic, were identified in each subject, ranging in size from 10 Kb to 12.5 Kb, and all are deletions. Case 1 had a de novo deletion of 10 Kb on chromosome10q22.3, located in the intronic region of the LRMDA gene. The other three cases all had a de novo deletion in intergenic regions, located on chromosome 20q11.21, 7q31.1 and 13q12.13, respectively. CONCLUSIONS: This study reported multiple long-lived cases of microtia with pulmonary hypoplasia and provided genome-wide genetic analysis focusing on de novo mutations. Whether the de novo CNVs identified are responsible for the rare phenotypes remains an open question. However, the results of our study provided a new perspective that the unsolved etiology of microtia might involve in non-coding sequences, which have long been ignored.

Short-term outcomes of thoracoscopic versus open lobectomy for congenital lung malformations.

PURPOSE: Thoracoscopic and open approaches for the management of congenital lung malformations (CLM) has been debated. The aim of this study is to compare 30-day outcomes for non-emergent lobectomies in children. METHODS: The National Surgical Quality Improvement Program-Pediatric database was queried for patients undergoing CLM resection from 2013 to 2020. Outcomes were compared by operative technique in an intention-to-treat model and then propensity matched. RESULTS: 2157 patients met inclusion criteria and underwent non-emergent pulmonary lobectomy for CLM. The intended operative approach was thoracoscopic in 57.7% of patients. Patients in the open group compared to the thoracoscopic were more likely to be born premature, have chronic lung disease, require preoperative oxygen support, and be ventilator dependent. After propensity matching, there was no statistically significant difference in 30-day mortality, unplanned readmission, and other complications between the thoracoscopic and open groups. Thoracoscopic approach was associated with a shorter length of stay. The proportion of cases approached via thoracoscopy increased over time from 48.8% in 2013 to 69.9% in 2020. CONCLUSIONS: This large multicenter retrospective matched analysis demonstrates thoracoscopic lobectomy in children has similar favorable 30-day outcomes and shorter length of stay for the non-emergent management of CLM, compared to open thoracotomy. LEVEL OF EVIDENCE: Level III.