RESUMEN
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle atrophy and weakness, multi-joint contractures with spine rigidity, and cardiomyopathy. Over time, muscular weakness can lead to dysphagia and a severe lowering of body mass index (BMI), worsening the prognosis. We present the case of a young male patient affected by EDMD, admitted to the hospital for pneumothorax in a severe state of undernourishment. The patient was treated with total parenteral nutrition (TPN) with Smofkabiven®, supplemented with micronutrients (vitamins and trace elements), and with minimal enteral nutrition through food. Within a year, the patient gained 8.5 kg and kept his body weight stable for the 6 years of the follow-up. In this study, we show that TPN ensures the nutritional requirements of EDMD patients in a safe and well-tolerated manner, allowing a considerable and stable improvement in nutritional status, which has a positive impact on the disease itself and the patients' quality of life.
RESUMEN
BACKGROUND AND AIMS: Bariatric Surgery (BS) is a therapeutic option in patients with severe obesity whose non-surgical techniques have failed. No work has previously explored trajectories of weight loss and how long this was maintained. Aim of study is to describe effect of BS and nutritional intervention on body weight trend in patients with obesity. METHODS: 792 patients who underwent BS from 1996 to 2021 were included. The Protocol provides Laparoscopic Sleeve Gastrectomy (LSG), Vertical Gastroplasty (VBG) and Roux-en-Y Gastric Bypass (GB). %Total Weight Loss (%TWL) and %Excess Weight Loss (%EWL) were evaluated in three cohort of patients. Cumulative incidence of clinical goal after surgery was calculated at two and five years after BS. RESULTS: At two years of follow-up, average %TWL and %EWL were 31.2% (95% CI = 29.0-33.4%) and 71% (95% CI = 65.4-76.5%) for VBG, 34.7% (95% CI = 33.8-35.6%) and 78.0% (95% CI = 75.9-89.1%) for GB and 33.8% (95% CI = 32.5-35.1%) and 68.8% (95% CI = 66.1-71.6%) for LSG. At two years from surgery the cumulative incidence of clinical goal was 70.7% (95% CI = 59.1-79.1%) for VBG, 86.4% (95% CI = 82.4-89.6%) for GB and 83.4% (95% CI = 76.0-87.1%) for LSG. At five years from surgery, average % TWL and % EWL were 22.5% (95% CI = 10.2-34.8%) and 58.2% (95% CI = 28.4-88.1%) for VBG, 31.8% (95% CI = 30.2-33.3%) and 70.8% (95% CI = 67.5-74.1%) for GB and 29.5% (95% CI = 26.2-32.8%) and 62.0% (95% CI = 53.4-70.6%) for LSG respectively. At five years after having reached clinical goal the share of people who were able to maintain their weight was 49.5% (95% CI = 30.8-79.6%) for VBG, 69.5% (95% CI = 58.3-82.8%) for GB and 55.9% (95% CI = 42.1-74.3%) for LSG. The median time of clinical goal maintaining was 4.8 years for VBG (95% CI lower limit = 4.1), 6.6 years for GB (95% CI lower limit = 6.2) and 5.3 years for LSG (95% CI lower limit = 4.8). CONCLUSIONS: Our work confirm effectiveness of BS in patients with obesity and show that who do not reach clinical goal within 2 years, hardly will reach it later and suggest necessity for a medium and long-term follow-up to prevent weight regain.