Spontaneous pneumomediastinum – a rare cause of chest pain and dyspnoe in children

Introduction. Spontaneous pneumomediastinum is a very rare condition in children. Nevertheless it should be considered in the differential diagnosis in patients who present with chest pain and dyspnoe.Aim. The aim of our study was to describe clinical presentation, management and outcomes of the paediatric patients with spontaneous pneumomediastinumMaterial and Methods. This was a retrospective analysis of the charts of all the patients who were admitted to the Department of Pneumonology, Paediatric Allergy and Clinical Immunology in a ten year period from 01.01.2011 till 31.12.2020 in whom spontaneous pneumomediastinum was diagnosed.Results. There were 11 children (7 females) with spontaneous pneumomediastinum. The median age of the children was 11 years (range 3 to 17.5 years). Most of the children presented to the hospital with chest pain, three children complained of the neck swelling and four children developed dyspnoe. Three children with the primary spontaneous pneumomediastinum had a history of physical exercise prior to the onset of symptoms. The secondary spontaneous pneumomediastinum occurred in two children with asthma and 4 children with pneumonia. Genetic material of human Bocavirus was identified in 3 cases. In 81.8% of children pneumomediastinum was accompanied by subcutaneous emphysema and in one case, in a child with severe pneumonia and respiratory insufficiency caused by Bocavirus with pneumorrhachis. In 10 children computed tomography was performed, bronchoscopy in 4 and esophagoscopy in two children. There was no evidence of esophageal rupture or bronchial tree rupture in any of our patients. Three children with pneumonia and pneumomediastinum developed respiratory insufficiency, two of these were treated with mechanical ventilation and one with High Flow Nasal Cannula oxygen therapy. All the children received oxygen. In one child surgical procedure was performed and the drain was inserted into mediastinal space in order to decompress it. Outcome was favourable in all children. Mean time to recovery was 10.6 ± 1.2 days. There was no recurrence of symptoms in any of our patients.Conclusions. Spontaneous pneumomediastinum in most cases is a benign condition, sporadically however it may progress rapidly, leading to respiratory insufficiency and warrant invasive management.

Assessing Symptom Burden and Depression in Subjects With Chronic Respiratory Insufficiency

Objectives: Patients with chronic respiratory insufficiency suffer from advanced disease, but their overall symptom burden is poorly described. We evaluated the symptoms and screening of depression in subjects with chronic respiratory insufficiency by using the Edmonton symptom assessment system (ESAS). Methods: In this retrospective study, 226 subjects with chronic respiratory insufficiency answered the ESAS questionnaire measuring symptoms on a scale from 0 (no symptoms) to 10 (worst possible symptom), and the depression scale (DEPS) questionnaire, in which the cut-off point for depressive symptoms is 9. Results: The most severe symptoms measured with ESAS (median [interquartile range]) were shortness of breath 4.0 (1.0-7.0), dry mouth 3.0 (1.0-7.0), tiredness 3.0 (1.0-6.0), and pain on movement 3.0 (0.0-6.0). Subjects with a chronic obstructive pulmonary disease as a cause for chronic respiratory insufficiency had significantly higher scores for shortness of breath, dry mouth, and loss of appetite compared to others. Subjects with DEPS ≥9 reported significantly higher symptom scores in all ESAS categories than subjects with DEPS <9. The area under the receiver operating characteristic curve for ESAS depression score predicting DEPS ≥9 was 0.840 ( P < .001). If the ESAS depression score was 0, there was an 89% probability of the DEPS being <9, and if the ESAS depression score was ≥4, there was an 89% probability of the DEPS being ≥9. The relation between ESAS depression score and DEPS was independent of subjects’ characteristics and other ESAS items. Conclusions: Subjects with chronic respiratory insufficiency suffer from a high symptom burden due to their advanced disease. The severity of symptoms increases with depression and 4 or more points in the depression question of ESAS should lead to a closer diagnostic evaluation of depression. Symptom-centered palliative care including psychosocial aspects should be early integrated into the treatment of respiratory insufficiency.

Audio MFCC-gram Transformers for respiratory insufficiency detection in COVID-19

This work explores speech as a biomarker and investigates the detection of respiratory insufficiency (RI) by analyzing speech samples. Previous work [Casanova et al. 2021] constructed a dataset of respiratory insufficiency COVID-19 patient utterances and analyzed it by means of a convolutional neural network achieving an accuracy of 87.04%, validating the hypothesis that one can detect RI through speech. Here, we study how Transformer neural network architectures can improve the performance on RI detection. This approach enables construction of an acoustic model. By choosing the correct pretraining technique, we generate a self-supervised acoustic model, leading to improved performance (96.53%) of Transformers for RI detection.

Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

Backgroud: Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficulty. A multicenter observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in high-risk population, using dried blood spot (DBS) as a main screening tool.Methods: 20 Chinese neuromuscular centers were involved in the early LOPD screening study. Inclusion criteria were: (1) age ≥1 years, (2) either one of a) persistent hyperCKemia; or b) muscle weakness of axial and/or limb-girdle muscles; or c) unexplained restrictive respiratory insufficiency. Enzymatic activity of acid α-glucosidase (GAA) was measured on DBS by tandem mass spectrometry (MS/MS) assay. For the final diagnosis genotype was assessed by next-generation sequencing.Result: In a 9-month period, we studied 492 cases: 26 positive samples (5.3%) were detected by DBS screening. Molecular studies finally confirmed LOPD diagnosis in 8 cases (1.6%). The GAA activities in individuals bearing pseudodeficiency alleles were well separated from those in LOPD patients by MS/MS assay. The median interval from the onset of symptoms to diagnosis was 5 years. Besides axial/proximal muscle weakness, all patients showed respiratory insufficiency with a mean forced vital capacity of predicted of 48%. The level of creatine kinase ranged from normal to no more than 5-fold of upper normal limit. LOPD with isolated hyperCKemia was not identified.Conclusions: This study confirms that DBS test is a reliable method for screening for LOPD. Respiratory insufficiency is earlier and more severe among Chinese LOPD patients. LOPD presented with paucisymptomatic hyperCKemia. Therefore, a prompt diagnosis is critical to prognosis.

Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies

Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We reported clinical, histopathological, and genetic features of four Chinese patients with SEPN1-RM and performed literature review on delayed respiratory insufficiency and extramuscular involvement.Results: A total of four patients exhibited both the typical and atypical clinical features of SEPN1-RM. The classical manifestations included axial and limb girdle weakness, spinal rigidity, scoliosis, respiratory insufficiency, and multiminicore morphological lesions. However, high interindividual variability was noticed on disease severity, especially the onset of respiratory involvement. Two adult patients postponed respiratory insufficiency to the third decade of life, while two juvenile patients manifested early hypoventilation with puberty exacerbation. As atypical features, extramuscular involvement of weight gain, subcutaneous adipose tissue accumulation, intellectual disability, and mild cardiac changes were observed. Molecular findings revealed three novel mutations of SELENON such as c.1286_1288 del CCT, c.1078_1086dupGGCTACATA, and c.785 G&gt;C. Ten cases with delayed respiratory insufficiency were identified from previous publications. A total of 18 studies described extramuscular abnormalities including joint contractures, alterations of body mass index (BMI), mild cardiac changes, and insulin resistance. Intellectual impairment was extremely rare.Conclusion: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.