Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM. At present, there is no curative therapy available, despite first promising results from ongoing gene therapy studies.In this study, we evaluated in detail the data from 13 German XLMTM patients, which was collected over a period of up to 20 years in our university hospital. We compared it to the international prospective longitudinal natural history study (NHS) data from 45 patients (containing 11 German patients). To highlight the broad phenotypic spectrum of the disease, we additionally focused on the clinical presentation of three cases at a glance.Comparing our data with the above mentioned natural history study, it appears the patients of the present German cohort seem to be more often severely affected, with higher frequency of non-ambulatory patients and patients on ventilation (and for longer time) and a higher proportion of patients needing a percutaneous endoscopic gastrostomy. Another key finding is a potential gap in time between first clinical presentation and final diagnosis, showing a need for patients to be treated in a specialized center for neuromuscular diseases.

Temporary extracorporeal membrane oxygenation in patients with refractory postoperative cardiogenic shock--a single center experience.

BACKGROUND: Approximately 1% of patients require temporary circulatory support due to refractory cardiogenic shock following cardiac surgery. Such patients are at very high risk for subsequent morbidity and mortality. We evaluated the results of temporary extracorporeal membrane oxygenation (ECMO) support in patients with postcardiotomy cardiogenic shock. METHODS: From November 1997 to February 2000, 7900 patients underwent cardiac surgery in our institution. Ninety-five patients (1.2%) (CABG, n = 63; AVR, n = 16; CABG and AVR, n = 8; other procedures, n = 8) required temporary postoperative ECMO support. ECMO implantation was performed via the femoral vessels or via the right atrium and ascending aorta. Intraaortic balloon counterpulsation was employed in all patients. RESULTS: Mean duration of ECMO support was 2.8 +/- 2.1 days. Forty-five patients (47%) were successfully weaned from ECMO. Of these, 28 patients were discharged from hospital 35.8 +/- 20.8 days post-ECMO support. Overall hospital mortality for all ECMO patients was considerable at 71%. Mortality rate in the combined CABG and AVR group was 100% (P < 0.05 versus the other surgical groups). ECMO support was complicated by renal failure in 64% of patients, bleeding requiring mediastinal reexploration in 62%, ischemia of the lower limbs in 16%, cerebral edema in 6%, and cerebral hemorrhage in 3%. CONCLUSIONS: ECMO is a suitable technique for short-term treatment of refractory postoperative low cardiac output. Mortality rates are comparable to other cardiac assist devices, with approximately 30% of patients able to be discharged from hospital.