Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Respiratory problems are a major cause of morbidity and mortality in patients with congenital myasthenic syndromes, a rare heterogeneous group of neuromuscular disorders caused by genetic defects impacting the structure and function of the neuromuscular junction. Recurrent, life-threatening episodic apnoea in early infancy and childhood and progressive respiratory failure requiring ventilation are features of certain genotypes of congenital myasthenic syndromes. Robb et al. published empirical guidance on respiratory management of the congenital myasthenic syndromes, but other than this workshop report, there are little published longitudinal natural history data on respiratory outcomes of these disorders. We report a retrospective, single-centre study on respiratory outcomes in a cohort of 40 well characterized genetically confirmed cases of congenital myasthenic syndromes, including 10 distinct subtypes (DOK7, COLQ, RAPSN, CHAT, CHRNA1, CHRNG, COL13A1, CHRNE, CHRNE fast channel syndrome and CHRNA1 slow channel syndrome), with many followed up over 20 years in our centre. A quantitative and longitudinal analysis of key spirometry and sleep study parameters, as well as a description of historical hospital admissions for respiratory decompensation, provides a snapshot of the respiratory trajectory of congenital myasthenic syndrome patients based on genotype.

Data gaps in electronic health record (EHR) systems: An audit of problem list completeness during the COVID-19 pandemic.

OBJECTIVE: To evaluate the completeness of diagnosis recording in problem lists in a hospital electronic health record (EHR) system during the COVID-19 pandemic. DESIGN: Retrospective chart review with manual review of free text electronic case notes. SETTING: Major teaching hospital trust in London, one year after the launch of a comprehensive EHR system (Epic), during the first peak of the COVID-19 pandemic in the UK. PARTICIPANTS: 516 patients with suspected or confirmed COVID-19. MAIN OUTCOME MEASURES: Percentage of diagnoses already included in the structured problem list. RESULTS: Prior to review, these patients had a combined total of 2841 diagnoses recorded in their EHR problem lists. 1722 additional diagnoses were identified, increasing the mean number of recorded problems per patient from 5.51 to 8.84. The overall percentage of diagnoses originally included in the problem list was 62.3% (2841 / 4563, 95% confidence interval 60.8%, 63.7%). CONCLUSIONS: Diagnoses and other clinical information stored in a structured way in electronic health records is extremely useful for supporting clinical decisions, improving patient care and enabling better research. However, recording of medical diagnoses on the structured problem list for inpatients is incomplete, with almost 40% of important diagnoses mentioned only in the free text notes.

The limited application of stem cells in medicine: a review.

The history of stem cell therapies is one of a limited number of clinical applications despite a vast therapeutic potential. Major breakthroughs in stem cell research have not yet enjoyed clinical success-all stem cell therapies bar hematopoietic stem cell transplantations remain experimental. With the increased risk of organ failure and neurodegenerative disease associated with our ability to push the boundaries of life expectancy comes an increased pressure to pioneer novel stem cell-based therapeutic approaches. We conclude that the failure of such therapies to achieve clinical translation stems from the polarising effect of the ethical debate around their use. The intractability of the ethical debate is double edged: legislators not only have placed tighter restrictions on certain stem cell therapies, but do so in favour of less controversial cells which will have worse outcomes for patients. It is by considering this relationship between the politics, ethics and science of stem cells that the reasons for the currently limited clinical significance of stem cell therapies be realised.