G304(P) A case of relapsing polychondritis in a paediatric patient with severe airway involvement – the challenges of long term airway & respiratory management

We describe a case of a 15-year-old girl diagnosed with relapsing polychondritis (RP) with involvement of the tracheobronchial tree, resulting in an increased difficulty in breathing, hoarseness of voice and stridor.Her case required the input of multiple specialities including ear, nose and throat, rheumatology, respiratory team and intensive care. Airway assessment and imaging showed glottic and subglottic stenosis and left bronchomalacia. Despite the use of steroids, cyclophosphamide and rituximab, her symptoms progressed and she was started on overnight non-invasive ventilation.She had further relapses of her airway RP—she was started on adalimumab and methotrexate and underwent monthly balloon dilatations which helped with her symptoms and facilitated a safe discharge home. However, she had further relapses and intensive care admissions and following further discussions, a tracheostomy was inserted. She is now stable on her tracheostomy and is off any respiratory support.

Download Full-text

Long-Term Outcome of Metallic Stenting for Central Airway Involvement in Relapsing Polychondritis

The Annals of Thoracic Surgery ◽

10.1016/j.athoracsur.2019.02.039 ◽

2019 ◽

Vol 108 (3) ◽

pp. 897-904

Author(s):

Xiaodong Wu ◽

Xin Zhang ◽

Wei Zhang ◽

Haidong Huang ◽

Qiang Li

Keyword(s):

Relapsing Polychondritis ◽

Term Outcome ◽

Long Term Outcome ◽

Central Airway

Download Full-text

Chest physiotherapy in cystic fibrosis - Adjuncts and alternatives

South African Journal of Physiotherapy ◽

10.4102/sajp.v42i3.805 ◽

1986 ◽

Vol 42 (3) ◽

pp. 77-79

Author(s):

B. Oberwaldner ◽

M. S. Zach

Keyword(s):

Cystic Fibrosis ◽

Pulmonary Function ◽

Training Programme ◽

Therapeutic Benefit ◽

Chest Physiotherapy ◽

Sputum Production ◽

Respiratory Management ◽

Resistive Loads ◽

Physiotherapy Programme

Chest physiotherapy is part of the long-term respiratory management of cystic fibrosis. Since compliance is often poor, effective and practical alternatives need to be sought.A preliminary study investigated the effect of weeks swimming training on the respiratory status of 10 patients while continuing their chest physiotherapy programme. Pulmonary function improved significantly after the course viz. FEV1: 82% predicted ± 24 to 90% predicted ± 23, p 0,05. Ten weeks after the trial most of the measurements had returned to their pre swimming levels. It was noted that sputum production on swimming days was higher than on non-swimming days.In a second study 12 children with cystic fibrosis participated in a training programme which included a variety of sports. Physiotherapy was discontinued during this period. Again pulmonary function improved significantly after the course viz. FEV1: 71% predicted ±23 to 79% predicted ± 23, p 0,01. Most values had returned to pre-training levels 8 weeks after the programme had ended.A current study is investigating the possible therapeutic benefit of a one-way breathing valve with increased expiratory resistive loads. Preliminary results indicate increased mobilisation of obstructing secretions as well as a significant improvement of pulmonary function.One can conclude that some highly effective and practical adjuncts and alternatives to the daily physiotherapy routine for cystic fibrosis do exist

Download Full-text

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

Neurology ◽

10.1212/wnl.0000000000010327 ◽

2020 ◽

Vol 95 (11) ◽

pp. e1512-e1527 ◽

Cited By ~ 1

Author(s):

Rocio N. Villar-Quiles ◽

Maja von der Hagen ◽

Corinne Métay ◽

Victoria Gonzalez ◽

Sandra Donkervoort ◽

...

Keyword(s):

Disease Severity ◽

Functional Decline ◽

Case Series ◽

Large Variability ◽

Respiratory Management ◽

Number Variation ◽

Exon 1 ◽

Eosinophilic Inclusions ◽

Muscle Biopsies

ObjectiveTo clarify the prevalence, long-term natural history, and severity determinants of SEPN1-related myopathy (SEPN1-RM), we analyzed a large international case series.MethodsRetrospective clinical, histologic, and genetic analysis of 132 pediatric and adult patients (2–58 years) followed up for several decades.ResultsThe clinical phenotype was marked by severe axial muscle weakness, spinal rigidity, and scoliosis (86.1%, from 8.9 ± 4 years), with relatively preserved limb strength and previously unreported ophthalmoparesis in severe cases. All patients developed respiratory failure (from 10.1±6 years), 81.7% requiring ventilation while ambulant. Histopathologically, 79 muscle biopsies showed large variability, partly determined by site of biopsy and age. Multi-minicores were the most common lesion (59.5%), often associated with mild dystrophic features and occasionally with eosinophilic inclusions. Identification of 65 SEPN1 mutations, including 32 novel ones and the first pathogenic copy number variation, unveiled exon 1 as the main mutational hotspot and revealed the first genotype–phenotype correlations, bi-allelic null mutations being significantly associated with disease severity (p = 0.017). SEPN1-RM was more severe and progressive than previously thought, leading to loss of ambulation in 10% of cases, systematic functional decline from the end of the third decade, and reduced lifespan even in mild cases. The main prognosis determinants were scoliosis/respiratory management, SEPN1 mutations, and body mass abnormalities, which correlated with disease severity. We propose a set of severity criteria, provide quantitative data for outcome identification, and establish a need for age stratification.ConclusionOur results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease.

Download Full-text