scholarly journals MuSK+ Myasthenia Gravis Presenting with Severe Sleep Apnea, Respiratory Dysfunction and Response to Rituximab

2021 ◽  
Vol 2 (3) ◽  
Author(s):  
Monica Alcantara ◽  
Clodagh Ryan ◽  
Nathan Stall ◽  
Robert Jackson ◽  
Neha Patel ◽  
...  
Author(s):  
HF Qashqari ◽  
I Narang ◽  
H Katzberg ◽  
K Vezina ◽  
A Khayat ◽  
...  

Background: Myasthenia Gravis ( MG) is an autoimmune disease that affects the neuromuscular junction. It typically presents with fluctuating muscle weakness which can affect respiratory muscles. Data about the prevalence of sleep disordered breathing in children with MG and the benefits of non-invasive ventilation outside the setting of MG crisis has not been studied so far. Methods: Eleven children between 3 and 18 years old with confirmed MG were recruited from the The Hospital for Sick Children Neuromuscular clinic in a prospective observational study. Informed consent was obtained and patients underwent PFTs, MIP/MEP, SNIP, FVC and standard polysomnography testing’s. Results: In our study, we found that 2/11 children had abnormal Apnea Hypopnea index (AHI) and were diagnosed with obstructive sleep apnea (OSA). One of them has juvenile ocular MG with mild to moderate OSA and the second child has congenital MG with mild OSA. CPAP therapy was initiated for both patients. Conclusions: In our cohort, obstructive sleep apnea rate was significantly higher in children with MG than the known prevalence in general pediatric population ( 18% vs 2-3% ). Early diagnosis and management of OSA can have great impact on children’s health and quality of life. A larger study is needed to validate our findings.


2004 ◽  
Vol 93 (10) ◽  
pp. 2204-2206
Author(s):  
Hisanao Norii ◽  
Yoshio Nakamura ◽  
Shingo Nishishita ◽  
Hitoshi Sugiyama ◽  
Hirofumi Makino

2021 ◽  
Vol 10 (21) ◽  
pp. 5195
Author(s):  
Piotr Pardak ◽  
Rafał Filip ◽  
Jarosław Woliński ◽  
Maciej Krzaczek

Gastroesophageal reflux disease (GERD) is commonly observed in patients with obstructive sleep apnea (OSA). Hormonal disorders observed in OSA may be relevant in the development of GERD. The aim of the study was to assess the correlations between ghrelin, obestatin, leptin, and the intensity of GERD in patients with OSA. The study included 58 patients hospitalized due to clinical suspicion of sleep disorders during sleep. All patients underwent a sleep study, and blood samples were collected overnight for hormonal tests. Survey data concerning symptoms of GERD, gastroscopy, and esophageal pH monitoring results were included in the study. In patients with OSA, GERD was twice as common when compared to the group without OSA. Among subjects with severe sleep apnea (AHI > 30; n = 31; 53%), we observed lower ghrelin levels, especially in the second half of the night and in the morning (p5.00 = 0.0207; p7.00 = 0.0344); the presence of OSA had no effect on obestatin and leptin levels. No significant differences in hormonal levels were observed between the groups depending on the diagnosis of GERD. However, correlations of ghrelin levels with the severity of esophagitis, leptin and ghrelin levels with the severity of GERD symptoms, and leptin levels with lower esophageal pH were found. GERD is more frequent among patients with OSA. In both GERD and OSA, deviations were observed in the levels of ghrelin and leptin. However, our analysis demonstrates that the relationship between OSA and GERD does not result from these disorders.


2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Yan Li ◽  
Yajuan Zhang

Obstructive sleep apnea syndrome (OSAHS) is a widespread respiratory dysfunction that has attracted more and more attention in recent years. Recently, a large number of studies have shown that abnormal DNA methylation epigenetically silences genes necessary for the pathogenesis of human diseases. However, the exact mechanism of abnormal DNA methylation in OSAHS is still elusive. In this study, we downloaded the OSAHS data from the GEO database. Our data for the first time revealed 520 hypermethylated genes and 889 hypomethylated genes in OSAHS. Bioinformatics analysis revealed that these abnormal methylated genes exhibited an association with the regulation of angiogenesis, apoptosis, Wnt, and ERBB2 signaling pathways. PPI network analysis displayed the interactions among these genes and validated several hub genes, such as GPSM2, CCR8, TAS2R20, TAS2R4, and TAS2R5, which were related to regulating liganded Gi-activating GPCR and the transition of mitotic metaphase/anaphase. In conclusion, our study offers a new hint of understanding the molecular mechanisms in OSAHS progression and will provide OSAHS with newly generated innovative biomarkers.


SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A187-A187
Author(s):  
Sarah Sarfraz ◽  
Lindsay McCullough ◽  
Henry Arantes ◽  
Alejandra Lastra

Abstract Introduction Polysomnography (PSG) is the gold standard for the diagnosis of obstructive sleep apnea (OSA). Given cost, insurance restrictions and in some cases limited access to sleep center testing, the use of home based sleep apnea testing is becoming increasingly more common. A proportion of patients with technically adequate HSAT who are negative end up having significant disease on PSG. The characteristics of patients who are found to have moderate to severe sleep apnea on polysomnogram (PSG) after a negative home sleep apnea test (HSAT) are not known. We aim to phenotype these patients. Methods We conducted a retrospective chart review from March 2018 to February 2020. A total of 953 adult patients (18 years old and older) underwent HSAT, 248 tests resulted negative (apnea-hypopnea index <5/h). Out of the negative HSAT, 17 patients had moderate to severe obstructive sleep apnea on PSG. Those were included for analysis. Data on patient characteristics such as age, body mass index (BMI), gender, STOP-BANG, ESS and comorbidities was gathered. Respiratory disturbance index, recording time, flow time, oximetry time on HSAT was recorded. PSG recording time, baseline AHI, supine AHI and non-supine AHI were also noted. Technically inadequate HSAT were excluded from analysis. Results The percentage of patients with negative HSAT who were found to have moderate to severe sleep apnea on PSG and were included for analysis was 6.85% (n17). Mean age was 41 years. Mean BMI was 33 kg/m2. Common comorbidities were hypertension (29%), asthma (17.6 %), depression (17.6%), anxiety (11.7%) and reflux (5.9%). Average ESS was 11.7 and STOP-BANG was 3.8. The mean recording time was 477 minutes, flow time 391 minutes and oximetry time was 426 minutes on HSAT. Average PSG recording time was 433 minutes. Average AHI was 24 with supine being 33.2/h and non-supine 17.9/h. Conclusion A proportion of patients with negative HSAT have moderate to severe OSA on follow-up polysomnogram. These patients were young, with lower-class obesity, more positional OSA, and no associated complex comorbidities. Re-evaluation of current diagnostic algorithms and further research is needed to phenotype this at-risk group, as first-line PSG may be more cost-effective and efficient. Support (if any):


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