Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome.

CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n = 31) or not (n = 64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team. PATIENTS AND STUDY DESIGN: Hormonal and metabolic parameters were retrospectively recorded in 95 adults with PWS (mean ± s.d. age 24.7 ± 8.2 years, BMI: 39.8 ± 12.1 kg/m²) referred to our Reference Center and compared according to transition. RESULTS: Among the entire cohort, 35.8% received growth hormone (GH) during childhood and 16.8% had a GH stimulation test after completion of growth. In adulthood, 14.7% were treated with GH, 56.8% received sex-hormone therapy, whereas 91.1% were hypogonadic and 37.9% had undergone valid screening of the corticotropic axis. The main reason for suboptimal endocrine management was marked behavioral disorders. Patients receiving transitional care were more likely to have had a GH stimulation test and hormonal substitutions in childhood. They also had a lower BMI, percentage of fat mass, improved metabolic parameters and fewer antidepressant treatments. Transitional care remained significantly associated with these parameters in multivariate analysis when adjusted on GH treatment. CONCLUSION: A coordinated care pathway with specialized pediatric care and transition to a multidisciplinary adult team accustomed to managing complex disability including psychiatric troubles are associated with a better health status in adults with PWS.

[Myositis ossificans circumscripta: a case report]. / La myosite ossifiante circonscrite: à propos d'un cas.

Myositis ossificans circumscripta is a benign lesion characterized by focal heterotopic soft tissue ossification, occurring in young people generally after localized trauma. Clinical and radiological appearances may mimic a sarcomatous neoplastic process. We report a case of myositis ossificans occurring after trauma, so as to illustrate the different imaging features of this benign pathology on conventional radiographs and computed tomography.

Laparoscopic cholecystectomy: technical performance, safety and patient's benefit.

Laparoscopic cholecystectomy seems to be the most promising new technique for the treatment of symptomatic gallstone disease. For different reasons, controlled clinical trials comparing comfort and trauma for the patient of conventional versus laparoscopic cholecystectomy are difficult to perform at our institution. We therefore report on the results of our first 400 laparoscopic cholecystectomies using a strict and detailed protocol on technical performance, safety and benefit for the patient. Data was obtained immediately after the operation and after a short-term follow-up. To analyze the technical performance and the safety of the procedure, we developed a new classification system (I-V) of adverse events, including both the patients' and the surgeons' viewpoints. Our results show that in nearly 80% of the cases an optimal result (no adverse events in any respect) was obtained. For different reasons, the surgical procedure had to be changed during the operation in 20 cases (5%). In 3 cases (0.8%), an injury of the common bile duct occurred; 2 patients died (mortality 0.5%). On the first post-operative day, vomiting occurred in only 8% and nausea in 19% of the patients. Pain intensity was always below the level where patients demand analgesic medication and declined near zero the day after the operation. Patients fatigue was measured on a scale from 0-10 and rose from 2.2 preoperatively to 3.3 postoperatively. Only a short hospital stay of 3 days median was required. At short-term follow-up 6 weeks after the operation, pain was only rarely reported, the patients were fit and only 20% avoided some kind of food. We conclude that laparoscopic cholecystectomy is the treatment of choice for this precisely defined patient population with symptomatic gallstone disease.