Children

Research

9 pages, 1969 KiB

Open AccessArticle

Airway Epithelial Cultures of Children with Esophageal Atresia as a Model to Study Respiratory Tract Disorders

by Henriette H. M. Dreyer, Eleonora Sofie van Tuyll van Serooskerken, Lisa W. Rodenburg, Arnold J. N. Bittermann, Hubertus G. M. Arets, Ellen M. B. P. Reuling, Johannes W. Verweij, Eric G. Haarman, David C. van der Zee, Stefaan H. A. J. Tytgat, Cornelis K. van der Ent, Jeffrey M. Beekman, Gimano D. Amatngalim and Maud Y. A. Lindeboom

Children 2023, 10(6), 1020; https://doi.org/10.3390/children10061020 - 5 Jun 2023

Viewed by 1564

Abstract

Esophageal atresia (EA) is a rare birth defect in which respiratory tract disorders are a major cause of morbidity. It remains unclear whether respiratory tract disorders are in part caused by alterations in airway epithelial cell functions such as the activity of motile [...] Read more.

Esophageal atresia (EA) is a rare birth defect in which respiratory tract disorders are a major cause of morbidity. It remains unclear whether respiratory tract disorders are in part caused by alterations in airway epithelial cell functions such as the activity of motile cilia. This can be studied using airway epithelial cell culture models of patients with EA. Therefore, the aim of this study was to evaluate the feasibility to culture and functionally characterize motile cilia function in the differentiated air–liquid interface cultured airway epithelial cells and 3D organoids derived from nasal brushings and bronchoalveolar lavage (BAL) fluid from children with EA. We demonstrate the feasibility of culturing differentiated airway epithelia and organoids of nasal brushings and BAL fluid of children with EA, which display normal motile cilia function. EA patient-derived airway epithelial cultures can be further used to examine whether alterations in epithelial functions contribute to respiratory disorders in EA. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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11 pages, 236 KiB

Open AccessArticle

A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening

by Antonella Tosco, Diletta Marino, Sara Polizzi, Valentina Tradati, Rita Padoan, Claudia Giust, Benedetta Fabrizzi, Giovanni Taccetti, Lucia Merli and Vito Terlizzi

Children 2023, 10(2), 177; https://doi.org/10.3390/children10020177 - 18 Jan 2023

Cited by 7 | Viewed by 2062

Abstract

Background: An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn screening (NBS) may cause parental distress. We compared the psychological impact of CF transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID), and clear CF diagnosis, on parents. Methods: The participants [...] Read more.

Background: An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn screening (NBS) may cause parental distress. We compared the psychological impact of CF transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID), and clear CF diagnosis, on parents. Methods: The participants were administered the Generalized Anxiety Disorder Scale, Patient Health Questionnaire-9, and the Italian version of the Impact of Event Scale-Revised as quantitative tools and semi-structured interviews as qualitative tools. Parental experience, child representation, relationships, future information, and perception of health status were investigated. Interviews were recorded and transcribed verbatim maintaining anonymity. Results: Thirty-two families were enrolled: sixteen with CF and CRMS/CFSPID, respectively. Anxiety and depression values were high in both groups, as were the measurement of traumatic impact subscales: avoidance, intrusiveness, and hyperarousal. The children’s health was evaluated by respective parents as being nearly healthy. Conclusions: Our results highlight negative psychological impacts, including emotional and affective representations, on parents of children with inconclusive CF diagnosis compared with those with clear diagnosis. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

10 pages, 5460 KiB

Open AccessArticle

Clinical Presentation and Surgical Management of Five Pediatric Cases with Bronchogenic Cysts: Retrospective Case Series

by Ali Alsuheel Asseri, Ayed A. Shati, Amal Y. Moshebah, Omair M. Alshahrani, Rayan M. Saad, Abdulmohsin M. Alzuhari, Maraam M. Al Qout and Abdullah S. Al-Helal

Children 2022, 9(12), 1824; https://doi.org/10.3390/children9121824 - 25 Nov 2022

Cited by 2 | Viewed by 2611

Abstract

Background: Bronchogenic cysts (BCs) refer to congenital lesions that result from primitive or abnormal foregut budding, and can be pulmonary or mediastinal. Their occurrence can take place at any point on the tracheobronchial tree, but they are usually localized in the lung parenchyma [...] Read more.

Background: Bronchogenic cysts (BCs) refer to congenital lesions that result from primitive or abnormal foregut budding, and can be pulmonary or mediastinal. Their occurrence can take place at any point on the tracheobronchial tree, but they are usually localized in the lung parenchyma and mediastinum, and may be symptomatic or asymptomatic. Bronchogenic cyst symptoms can vary, depending on the size and location of the cyst. Methods: A retrospective review of the charts of five patients with a histopathological diagnosis of bronchogenic cysts was performed between 2014 and 2020. The patients reported in this study were diagnosed and managed at Abha Maternity and Children Hospital, Abha, southwest Saudi Arabia. In addition, demographic information, as well as diagnostic and therapeutic information, was provided for each patient, both at discharge and after discharge. All patients had confirmed congenital bronchogenic cysts with different clinical phenotypes and radiological findings. Results: All patients had histopathologically confirmed bronchogenic cysts with different clinical and radiological presentations. Two patients had mediastinal-located cysts; one had a laryngeal cyst; and the last two patients had infected intrapulmonary bronchogenic cysts. All patients underwent complete excision and did not experience recurrence or other postoperative complications during the follow-up period. The latter two patients required lobectomies of the right middle and upper lobes. Conclusions: Although bronchogenic cysts are considered a rare congenital pulmonary malformation, they should be considered in the differential diagnosis of pediatric patients with unusual airway and parenchymal lung manifestations, particularly, persistent stridor, feeding difficulty, and complicated pneumonia. Surgical excision of the cyst is the gold-standard therapy for symptomatic bronchogenic cysts and is highly recommended for asymptomatic ones. Long-term follow-up studies will be required to explore any long-term complications of BCs, particularly regarding the malignancy transformation. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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8 pages, 246 KiB

Open AccessArticle

Effect of Dornase Alfa on the Lung Clearance Index in Children with Cystic Fibrosis: A Lesson from a Case Series

by Vito Terlizzi, Giuseppe Fabio Parisi, Beatrice Ferrari, Chiara Castellani, Sara Manti, Salvatore Leonardi and Giovanni Taccetti

Children 2022, 9(11), 1625; https://doi.org/10.3390/children9111625 - 26 Oct 2022

Cited by 6 | Viewed by 1461

Abstract

Background: Dornase alfa (DNase) is the only mucus-degrading agent that has proven efficacy in cystic fibrosis (CF). Few studies have evaluated the effects of DNase on the lung clearance index (LCI). We report the experience of two CF centers in which LCI monitoring [...] Read more.

Background: Dornase alfa (DNase) is the only mucus-degrading agent that has proven efficacy in cystic fibrosis (CF). Few studies have evaluated the effects of DNase on the lung clearance index (LCI). We report the experience of two CF centers in which LCI monitoring was used to evaluate the efficacy of DNase therapy. Methods: This is a prospective and observational study, evaluating the effects of DNase therapy on LCI values in three CF children followed at CF centers in Florence and Catania, Italy. In both centers, LCI was performed routinely, every 3–6 months, based on the clinical picture and severity of the lung disease. In this study, we evaluated the LCI before and after long-term DNase therapy. Results: DNase improved LCI values in the absence of respiratory exacerbations: in case n. 1 LCI decreased by 39% in 16 months (from 11.1 to 6.8); in case n. 2 by 20% in 12 months (from 9.3 to 7.4); in case n. 3 by 24% in 16 months (from 9.3 to 7.0). Conclusions: This case series confirms the efficacy of DNase therapy in CF children, as demonstrated by the LCI reduction in treated patients. Furthermore, our results suggest that LCI is a sensitive marker of disease and can be used for the evaluation of response to treatment. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

Review

Jump to: Research, Other

9 pages, 569 KiB

Open AccessReview

Interstitial Lung Disease in Children: “Specific Conditions of Undefined Etiology” Becoming Clearer

by Santiago Presti, Giuseppe Fabio Parisi, Maria Papale, Eloisa Gitto, Sara Manti and Salvatore Leonardi

Children 2022, 9(11), 1744; https://doi.org/10.3390/children9111744 - 14 Nov 2022

Cited by 3 | Viewed by 1970

Abstract

Background: Children’s interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as “specific conditions of undefined aetiology”, including pulmonary [...] Read more.

Background: Children’s interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as “specific conditions of undefined aetiology”, including pulmonary interstitial glycogenosis (PIG) and neuroendocrine cell hyperplasia of infancy (NEHI). Methods: PubMed was searched to conduct this narrative review. We searched for articles in English using the following keywords: (1) neuroendocrine cell hyperplasia of infancy; (2) NEHI; (3) pulmonary interstitial glycogenosis; (4) PIG; (5) chILD. Results: An increasing interest and insight into these two conditions have been reported. The updated literature suggests that it is possible to look at these disorders as a continuum of diseases, rather than two different entities, since they share a pulmonary dysmaturity. Conclusions: NEHI and PIG are featured by dysmaturity of airway development and consequent respiratory distress. Understanding the underlying pathogenic mechanisms would lead to identifying new targeted therapies to ameliorate the mortality and morbidity of these rare conditions. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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Other

Jump to: Research, Review

7 pages, 1350 KiB

Open AccessCase Report

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

by Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed and Sarar Mohamed

Children 2022, 9(12), 1811; https://doi.org/10.3390/children9121811 - 24 Nov 2022

Cited by 2 | Viewed by 1924

Abstract

Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann–Pick disease type C2 usually presents with [...] Read more.

Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann–Pick disease type C2 usually presents with respiratory symptoms, cholestasis, neurological impairment, and hepatosplenomegaly. Case report: Here, we report a 3-year-old boy who presented to our hospital with exacerbation of chronic lung disease requiring invasive ventilatory support. He was previously diagnosed with interstitial lung disease. His parents used to instill olive oil in his nose (a few drops in each nostril daily for several months) to treat frequent nasal bleeding. A detailed history revealed prolonged neonatal jaundice for four months, with hepatosplenomegaly. In his second year, generalized hypotonia and delayed psychomotor development were observed. Upon presentation to our institute, chest CT showed evidence of intraparenchymal fat; therefore, lipoid pneumonia and lipid storage disease were suspected. The bronchoalveolar lavage results suggested pulmonary alveolar proteinosis (PAP). Whole-exome sequencing (WES) revealed a class one homozygous pathogenic variant in the NPC2 gene. Our patient faced a range of difficulties, including prolonged mechanical ventilation and diagnostic and therapeutic challenges. Conclusion: Niemann–Pick disease type C2 is a progressive and lethal condition that requires a high index of suspicion to pinpoint the diagnosis. Gene study remains the method of choice to confirm the diagnosis. There are limited choices of therapeutic interventions; therefore, genetic counseling and the prevention of recurrence should be the ultimate goal for affected families. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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6 pages, 463 KiB

Open AccessCase Report

Spontaneous Pneumomediastinum in a 16-Year-Old Patient with SARS-CoV-2 Infection: A North-East Romanian Case

by Florin Filip, Monica Terteliu Baitan, Olga Adriana Caliman Sturdza, Roxana Gheorghita Puscaselu and Roxana Filip

Children 2022, 9(11), 1641; https://doi.org/10.3390/children9111641 - 27 Oct 2022

Cited by 2 | Viewed by 1547

Abstract

Spontaneous pneumomediastinum (SPM) associated with SARS-CoV-2 infection is a rare condition but can represent a medical emergency. It is probably related to alveolar damage secondary to SARS-CoV-2 infection, which allows air to escape in the surrounding lung tissue. Cough and airways’ barotrauma are [...] Read more.

Spontaneous pneumomediastinum (SPM) associated with SARS-CoV-2 infection is a rare condition but can represent a medical emergency. It is probably related to alveolar damage secondary to SARS-CoV-2 infection, which allows air to escape in the surrounding lung tissue. Cough and airways’ barotrauma are also mentioned as contributing mechanisms. Treatment is generally conservative, but surgery may be required in severe cases. This paper presents the case of a 16-year-old girl with COVID-19-associated SPM who was treated conservatively in our department. The clinical course was favorable with resolution of respiratory symptoms and radiological (chest CT scan) image of pneumomediastinum. The patient was discharged 7 days after the confirmation of the initial SP diagnosis with appropriate treatment and recommendations for isolation. The sudden occurrence of chest pain and dyspnea should raise the suspicion of SPM in COVID-19 patients. Close surveillance and proper radiological monitoring are required in such cases. Treatment should be strictly individualized based on clinical course and radiological appearance. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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Graphical abstract

16 pages, 691 KiB

Open AccessSystematic Review

Antibiotherapy in Children with Cystic Fibrosis—An Extensive Review

by Ioana Mihaiela Ciuca, Mihaela Dediu, Diana Popin, Liviu Laurentiu Pop, Liviu Athos Tamas, Ciprian Nicolae Pilut, Bogdan Almajan Guta and Zoran Laurentiu Popa

Children 2022, 9(8), 1258; https://doi.org/10.3390/children9081258 - 20 Aug 2022

Cited by 11 | Viewed by 3257

Abstract

In cystic fibrosis (CF), the respiratory disease is the main factor that influences the outcome and the prognosis of patients, bacterial infections being responsible for severe exacerbations. The etiology is often multi-microbial and with resistant strains. The aim of this paper is to [...] Read more.

In cystic fibrosis (CF), the respiratory disease is the main factor that influences the outcome and the prognosis of patients, bacterial infections being responsible for severe exacerbations. The etiology is often multi-microbial and with resistant strains. The aim of this paper is to present current existing antibiotherapy solutions for CF-associated infections in order to offer a reliable support for individual, targeted, and specific treatment. The inclusion criteria were studies about antibiotherapy in CF pediatric patients. Studies involving adult patients or those with only in vitro results were excluded. The information sources were all articles published until December 2021, in PubMed and ScienceDirect. A total of 74 studies were included, with a total number of 26,979 patients aged between 0–18 years. We approached each pathogen individual, with their specific treatment, comparing treatment solutions proposed by different studies. Preservation of lung function is the main goal of therapy in CF, because once parenchyma is lost, it cannot be recovered. Early personalized intervention and prevention of infection with reputable germs is of paramount importance, even if is an asymmetrical challenge. This research received no external funding. Full article

(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)

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