Publications by authors named "Mathis Steindor"

Article Synopsis
  • Duchenne muscular dystrophy is a common genetic disease in children that results in loss of motor skills, heart issues, and respiratory challenges.
  • Respiratory care by pediatric pulmonologists is crucial, including lung function monitoring, sleep studies, and managing ventilation support.
  • The article highlights the importance of collaboration among specialists to improve the treatment and quality of life for children with neuromuscular diseases like Duchenne muscular dystrophy.
View Article and Find Full Text PDF

are a large order of ubiquitous saprophytic zygomycete fungi and act as opportunistic pathogens in humans. In pediatric patients, little is known about the role of in airway colonization and infection or their role as contaminants of respiratory samples. Currently, polymerase chain reaction (PCR) is the most sensitive mode of detection in clinical specimen.

View Article and Find Full Text PDF

Recently, cystic fibrosis transmembrane regulator modulator therapy with elexacaftor/tezacaftor/ivacaftor has become available for children with cystic fibrosis (CF) carrying at least one mutation. To assess the intermediate term effects of elexacaftor/tezacaftor/ivacaftor in children with cystic fibrosis in a real-world setting. We performed a retrospective analysis of records of children with cystic fibrosis, who started elexacaftor/tezacaftor/ivacaftor between 8/2020 and 10/2022.

View Article and Find Full Text PDF

The number of children with tracheostomies with and without home mechanical ventilation has grown continuously in recent years. For some of these children, the need for tracheostomy resolves and the child can be weaned from the tracheal cannula. Choosing the optimal time point for decannulation after elaborated prior diagnostic work-up needs careful consideration.

View Article and Find Full Text PDF

Background: Long COVID (LC) is a diagnosis that requires exclusion of alternative somatic and mental diseases. The aim of this study was to examine the prevalence of differential diagnoses in suspected pediatric LC patients and assess whether adult LC symptom clusters are applicable to pediatric patients.

Materials And Methods: Pediatric presentations at the Pediatric Infectious Diseases Department of the University Hospital Essen (Germany) were assessed retrospectively.

View Article and Find Full Text PDF

Objectives: People with cystic fibrosis (pwCF) are at risk for infection with nontuberculous mycobacteria (NTM). The epidemiology and screening practice of NTM among pwCF in Germany are largely unknown and require investigation.

Methods: We analyzed the data of the German Cystic Fibrosis Registry from 2016 to 2020 for NTM.

View Article and Find Full Text PDF

Background: Absent or abnormal senses of smell and taste have been frequently reported during both acute and long COVID in adult patients. In contrast, pediatric patients who test positive for SARS-CoV-2 are often asymptomatic and the loss of smell and/or taste has been infrequently reported. After observing several young patients with COVID-associated anosmia and ageusia at our clinic, we decided to investigate the incidence of subsequent eating disorders in these patients and in SARS-CoV-2 positive patients who did not experience anosmia and ageusia during the same period.

View Article and Find Full Text PDF
Article Synopsis
  • Mycobacterium chimaera is a non-tuberculous mycobacterium linked to difficult infections in cystic fibrosis patients, primarily affecting the lungs and rare in other sites unless there's immune deficiency.
  • A case study of an 8-year-old cystic fibrosis patient showed recurrent pulmonary issues and a confirmed M. chimaera infection in a central venous port, diagnosed using next-generation sequencing.
  • The patient's recovery highlights the need for catheter removal and targeted therapy as key steps in treating MAC infections, underscoring the importance of biofilm formation in such cases.
View Article and Find Full Text PDF
Article Synopsis
  • Gain-of-function variants in the STING gene are responsible for STING-Associated Vasculopathy with onset in Infancy (SAVI), previously thought to only occur with heterozygous mutations.
  • Recent findings highlight a specific homozygous variant, c.841C>T, causing SAVI in four unrelated patients, all presenting with interstitial lung disease and varying disease severity.
  • This research challenges the established view of SAVI as an autosomal dominant condition, suggesting an autosomal recessive inheritance pattern and potentially aiding in diagnosis and treatment approaches.
View Article and Find Full Text PDF
Article Synopsis
  • Cough suppression is common in adults with cystic fibrosis (CF) and negatively affects their health-related quality of life (HRQoL).
  • A study with 71 adults found that while cough suppression is present, it does not significantly correlate with clinical measures of disease severity like BMI or lung function.
  • Mental health factors appear to play a role in cough suppression, indicating a need for further research in this area.
View Article and Find Full Text PDF

Background: Respiratory involvement defines the clinical outcome of neuromuscular diseases (NMD). The lung clearance index (LCI) is a marker of lung ventilation inhomogeneity and indicates small airway disease. It is determined by mulitple breath washout lung function (MBW).

View Article and Find Full Text PDF

High-flow nasal therapy (HFNT) is a safe and simple way to deliver humidified air and oxygen for respiratory support in infants and children. HFNT is well established in an inpatient setting, but home HFNT lacks evidence. In the current study, we studied characteristics and outcomes of pediatric patients with home HFNT.

View Article and Find Full Text PDF
Article Synopsis
  • The text discusses the rise of diseases caused by non-tuberculous mycobacteria (NTM) and highlights that Mycobacterium tuberculosis remains a leading infectious cause of death globally.* -
  • Two molecular assays, GenoType CM direct (GTCMd) and VisionArray Myco (VAM), were evaluated for their effectiveness in identifying mycobacterial species from 65 clinical specimens.* -
  • GTCMd demonstrated higher sensitivity and positive predictive value compared to VAM, successfully identifying mycobacteria from additional culture-negative samples, indicating both assays enhance rapid diagnosis.*
View Article and Find Full Text PDF
Article Synopsis
  • * Researchers developed a specific interferon-γ release assay to detect immune responses to MABC by using overexpressed proteins to stimulate immune cells, with results indicating stronger responses in infected subjects compared to controls.
  • * The findings suggest that the protein MAB_0405c significantly correlates with MABC infection, with promising diagnostic potential reflected in high sensitivity and specificity rates from testing, especially in CF patients.
View Article and Find Full Text PDF

Objective: To examine the effect of intrathecal application of nusinersen on the respiratory function in terms of vital capacity in pediatric patients with spinal muscular atrophy (SMA). SMA is characterized by on-going muscular atrophy and weakness that lead to respiratory insufficiency. In recent years therapy with nusinersen has been shown to improve motor function in patients with SMA.

View Article and Find Full Text PDF

Background: Home noninvasive ventilation (NIV) improves disease courses of patients with respiratory insufficiency due to neuromuscular diseases. Data about appropriate ventilator settings for pediatric patients are missing.

Methods: In this retrospective study, ventilator settings of 128 subjects with neuromuscular disease aged 0-17 y with NIV were compared between 4 age groups (< 1 y, 0-5 y, 6-11 y, and 12-17 y).

View Article and Find Full Text PDF

Background: In patients with severe neurological impairment, recurrent respiratory tract infections frequently occur as a result of impaired clearance of airway secretions and microbial airway colonisation. We hypothesised that inhaled antibiotic therapy may improve the morbidity of these patients.

Methods: A retrospective data analysis of 20 patients (11 nontracheotomised and nine tracheotomised) with neurological impairment and microbial airway colonisation was carried out at a children's university hospital.

View Article and Find Full Text PDF

The Mycobacterium abscessus complex can cause fatal pulmonary disease, especially in cystic fibrosis patients. Diagnosing M. abscessus complex pulmonary disease is challenging.

View Article and Find Full Text PDF

Cystic fibrosis patients are highly susceptible to infections with non-tuberculous mycobacteria. Especially Mycobacterium abscessus infections are common but reliable diagnosis is hampered by non-specific clinical symptoms and insensitive mycobacterial culture. In the present study we established novel methods for rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients.

View Article and Find Full Text PDF

In this study, the PCR-based DNA strip assay GenoType BC for the identification of bacteria and the resistance genes mecA, vanA, vanB, vanC1, and vanC2/3 directly from positive BacTAlert blood culture bottles was evaluated in a multicenter study. Of a total of 511 positive blood cultures, correct identification percentages for Gram-negative bacteria, Gram-positive bacteria, and the mecA gene were 96.1%, 89.

View Article and Find Full Text PDF