Nemaline Myopathy as a Cause of Sleep Hypoventilation

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 390-395
Author(s):  
Ch. Maayan ◽  
C. Springer ◽  
Y. Armon ◽  
E. Bar-Yishay ◽  
V. Shapira ◽  
...  

Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.

2020 ◽  
Author(s):  
Jesper Eugen-Olsen ◽  
Izzet Altintas ◽  
Jens Tingleff ◽  
Marius Stauning ◽  
Hejdi Gamst-Jensen ◽  
...  

ABSTRACTOBJECTIVETo examine if baseline soluble urokinase plasminogen activator receptor (suPAR) can predict whether patients with COVID-19 symptoms will need mechanical ventilation during a 14-day follow-up. Furthermore, to examine differences in demographics, clinical signs, and biomarkers in patients tested either positive or negative for SARS-CoV-2.DESIGNProspective cohort study including patients presenting with symptoms of COVID-19.SETTINGCopenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark.PARTICIPANTS407 patients presenting with symptoms of COVID-19 were included from the Emergency Department (ED). Patients were included from March 19 to April 3 and follow-up data was collected until April 17, 2020.MAIN OUTCOME MEASURESPrimary outcomes were respiratory failure in patients presenting with symptoms of COVID-19 and in those with a positive SARS-CoV-2 RT-PCR test, respectively. Furthermore, we analysed differences between patients testing positive and negative for SARS-CoV-2, and disease severity outcomes in SARS-CoV-2 positive patients according to baseline suPAR.BACKGROUNDPatients admitted to ED with clinical signs or symptoms of COVID-19 infection need a safe and quick triage, in order to determine if an in-hospital stay is necessary or if the patient can safely be isolated in their own home with relevant precautions. suPAR is a biomarker previously shown to be associated with adverse outcomes in acute medical patients. We aimed to examine if suPAR at baseline presentation is predictive of respiratory failure in patients presenting with symptoms of COVID-19. Furthermore, we examined demographic, clinical, and biochemical differences between SARS-CoV-2-positive and negative patients.RESULTSAmong the 407 symptomatic patients, the median (interquartile range) age was 64 years (47-77), 58% were women, and median suPAR was 4.2 ng/ml (2.7-6.4). suPAR level below 4.75 ng/ml at admission ruled out respiratory failure during follow-up with an area under the curve (95% CI) of 0.89 (0.85-0.94) and a negative predictive value of 99.5%. Of the 407 symptomatic patients, 117 (28.8%) had a positive RT-PCR test for SARS-CoV-2 and presented with significant differences in vital signs, cell counts, and biomarkers compared to SARS-CoV-2 negative patients. In SARS-CoV-2 positive patients eligible for mechanical ventilation (N=87), 26 (30%) developed respiratory failure. Best baseline predictors of respiratory failure were suPAR with an area under the curve (95% CI) of 0.88 (0.80-0.95), EWS 0.84 (0.75-0.93), lactate dehydrogenase 0.82 (0.71-0.93), and C-reactive protein 0.80 (0.70-0.89).CONCLUSIONSARS-CoV-2 affects several patient parameters underpinning the severe impact of the infection. A low suPAR level (<4.75 ng/ml) at baseline is a useful biomarker for aiding clinical decisions including discharge of patients presenting with symptoms of COVID-19.


2014 ◽  
Vol 8 (1) ◽  
pp. 201-206 ◽  
Author(s):  
George T Felt ◽  
Ahmad Soolari

The current report reviews a case of mixed dental trauma consequent to a fall by an older patient. The patient’s teeth were forced out of alignment by the trauma and suffered pulpal necrosis. Treatment involved not only healing the acute injuries, but also attending to some subtle delayed problems that became apparent during treatment. Treatments involving endodontics, periodontics, orthodontics, and restorative dentistry were used to address all of the patient’s concerns. This insured that the traumatic occlusion was corrected, appropriate esthetics was restored and normal speech and function was regained. All signs of trauma were recognized, every treatment step was documented, and appropriate follow-up was provided throughout the recovery period.


PEDIATRICS ◽  
1988 ◽  
Vol 82 (4) ◽  
pp. 670-671
Author(s):  
EDUARDO BANCALARI

The article by Shennan and collaborators1 raises some interesting questions concerning the diagnosis of chronic lung disease and the predictability of respiratory outcome in early infancy. The first question addressed by the authors relates to the definition of bronchopulmonary dysplasia. This term was introduced by Northway et al2 in 1967 to describe a group of infants in whom severe chronic lung changes developed after prolonged mechanical ventilation and oxygen therapy. Most of these were infants with birth weights greater than 1000 g in whom chronic respiratory failure developed and whose chest radiographs appeared abnormal. In recent years, there has been an increase in the survival rate of infants with birth weights less than 1000 g, which has resulted in an increase in the population at risk for the development of chronic lung disease.


Author(s):  
Allen Widysanto ◽  
Titis Dewi Wahyuni ◽  
Leonardo Helasti Simanjuntak ◽  
Samuel Sunarso ◽  
Sylvia Sagita Siahaan ◽  
...  

Coronavirus disease 2019 (COVID-19) is a public health emergency caused by SARS-CoV-2. A few studies reported pneumothorax in patients with COVID-19. Pneumothorax is associated with an increased morbidity and mortality. Hence, it should be considered during the treatment and follow-up of patients with COVID-19. Herein, we reported four cases of pneumothorax in critical COVID-19 patients hospitalized in the ICU and treated with a mechanical ventilation. All patients were diagnosed with COVID-19, type 1 respiratory failure, and acute respiratory distress syndrome. All patients developed pneumothorax during mechanical ventilation, although the ventilator settings were set to lung-protective strategy.


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