RESUMEN
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres. Data were retrospectively analysed. Of the 235 patients, 123 were female (52.3%). The diagnosis was made in adulthood in 139 patients, 110 of whom presented their first symptoms before the age of 18. Mean follow-up time between first symptoms and last visit was 34 years (SD = 15.1). Pathogenic variants were found in 19 disease-related genes. CHRNE-low expressor variants were the most common (23.8%), followed by variants in DOK7 (18.7%) and RAPSN (14%). Genotypes were clustered into four groups according to the initial presentation: ocular group (CHRNE-LE, CHRND, FCCMS), distal group (SCCMS), limb-girdle group (RAPSN, COLQ, DOK7, GMPPB, GFPT1), and a variable-phenotype group (MUSK, AGRN). The phenotypical features of CMS did not change throughout life. Only four genotypes had a proportion of patients requiring intensive care unit (ICU) admission that exceeded 20%: RAPSN (54.8%), MUSK (50%), DOK7 (38.6%) and AGRN (25.0%). In RAPSN and MUSK patients most ICU admissions occurred before age 18 years and in DOK7 and AGRN patients at or after 18 years of age. Different patterns of disease course (stability, improvement and progressive worsening) may succeed one another in the same patient throughout life, particularly in AGRN, DOK7 and COLQ. At the last visit, 55% of SCCMS and 36.3% of DOK7 patients required ventilation; 36.3% of DOK7 patients, 25% of GMPPB patients and 20% of GFPT1 patients were wheelchair-bound; most of the patients who were both wheelchair-bound and ventilated were DOK7 patients. Six patients died in this cohort. The positive impact of therapy was striking, even in severely affected patients. In conclusion, even if motor and/or respiratory deterioration could occur in patients with initially moderate disease, particularly in DOK7, SCCMS and GFPT1 patients, the long-term prognosis for most CMS patients was favourable, with neither ventilation nor wheelchair needed at last visit. CHRNE patients did not worsen during adulthood and RAPSN patients, often severely affected in early childhood, subsequently improved.
RESUMEN
BACKGROUND: Concerns regarding potential neurologic complications of COVID-19 are being increasingly reported worldwide. Our objective was to investigate the neurologic complications of COVID-19 among a cohort of Lebanese patients with SARS-CoV-2 infection admitted to Rafik Hariri University Hospital (RHUH), the leading COVID-19 testing and treatment center in Lebanon. METHODS: This is a retrospective, single-center, observational study conducted from March to July 2020 at RHUH, Lebanon. RESULTS: Of 169 hospitalized patients with confirmed SARS-CoV-2 infection (mean {SD} age was 45.75 {19} years and 62.7% were men), 91 patients (53.8%) had severe infection and 78 patients (46.2%) had non-severe infection according to the American Thoracic Society guidelines for community-acquired pneumonia. Overall, 112 patients (66.3%) developed neurologic symptoms: CNS (46.1%), PNS (43.7%), and skeletal muscle injury (2.4%). Compared with patients with non-severe infection, patients with severe infection were significantly older, were male and more likely to have underlying disorders, especially diabetes and cardiac or cerebrovascular disease. Moreover, those patients experienced more typical COVID-19 symptoms at onset of illness such as fever, cough and fatigue. However, there was no significant difference in the frequency of all nervous system manifestations between the severe and the non-severe infection groups (57 {62.6%} vs 55 {70.5%}; p =0.316), except for impaired consciousness, where seven patients had impaired consciousness in the severe group compared to none in the non-severe group (p=0.012). CONCLUSION: A wide variety of neurologic symptoms were detected in our Lebanese cohort of hospitalized COVID-19 patients. A comprehensive knowledge of the neurologic manifestations will help healthcare providers to be more attentive to these complications.
RESUMEN
Introduction: Perioperative management of female patients undergoing breast surgeries differs from other patients due to chronic pain and postoperative nausea and vomiting. The anesthesia could consist of opioid-free general anesthesia (OFA) or non-opioid-free general anesthesia (NOFA). OFA relies on multimodal analgesia preoperatively and postoperatively. However, it is not yet established whether OFA could replace NOFA as a standard regimen for the management of breast surgeries. The aim of this study is to evaluate the efficacy of OFA for breast surgeries in female patients. Materials and methods: Patients undergoing modified radical mastectomy were retrospectively recruited. Two groups were defined: group 1, consisting of treated patients using OFA and group 2, consisting of treated patients using NOFA. Mean time to extubate and mean dose of morphine after recovery were computed. Postoperative morphine and antiemetic use were assessed for up to 24 h. A comparison of the computed data was conducted between both groups. Results: A total of 116 patients were included with a mean age of 53±13 years. Group 1 consisted of 56 (mean age was 54±14 years). Group 2 consisted of 60 patients (mean age was 51±12 years). Demographic parameters and time to extubate did not yield significant differences. We noticed morphine sparing at T0 and T12 with statistically significant differences P=0.043 and P=0.006, respectively. Conclusion: OFA could be considered in modified radical mastectomy management in female patients; nerve block seemed to act as morphine sparing in operative and postoperative settings by providing significantly less time to extubate with less postoperative morphine requirement.