Bone health, daily physical activity, and exercise tolerance in patients with cystic fibrosis.

BACKGROUND: Daily physical activity (PA) may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF). The aim of this study was to analyze the possible association between physical capacity and activity and bone mineral density (BMD) in young adults with CF. A secondary goal was to evaluate vertebral fractures in this population. METHODS: A cross-sectional study was conducted in 50 patients with CF who were clinically stable and aged > 16 years but not lung transplant recipients. PA was quantified with a portable motion monitor (BodyMedia Fit Armband). Cardiopulmonary exercise and 6-min walk tests were used to assess exercise capacity. BMD was obtained from dual-energy x-ray absorptiometry of the lumbar column, hip, and whole body. To analyze vertebral fractures and deformity, we performed the Genant and Cobb methods. RESULTS: Daily PA time at low (3-4.8 metabolic equivalent tasks [METs]) and moderate (4.8-7.2 METs) intensity, respectively, was correlated with Z score (BMD) of the lumbar column (r = 0.36, P < .01 and r = 0.59, P < .001), the neck of femur (r = 0.51, P < .001 and r = 0.72, P < .001), and the total hip (r = 0.54, P < .001 and r = 0.74, P < .001). PA, BMI, age, and sex were predictors of BMD. Vertebral fractures correlated with kyphosis (r = 0.42, P = .02), but not with BMD. Patients who were mildly and severely affected differed in vertebral fracture rate and kyphosis prevalence (P = .002 and P = .013, respectively). CONCLUSIONS: The most active patients with better exercise capacity had higher BMD. Those with more affected pulmonary function had a greater prevalence of vertebral fractures and dorsal kyphosis.

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal forms with failure to thrive in males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic facial anomalies and abnormalities affecting the internal organs, skeleton, and on some occasions, mental retardation of variable degree. SGBS is also associated with an increased risk of developing embryonal tumors, mostly Wilms and liver tumors. We describe two molecularly-confirmed families with SGBS. All patients had typical manifestations of SGBS including some female relatives who had minor manifestations of the disorder. Some patients had novel findings such as a deep V-shaped sella turcica and six lumbar vertebrae. Molecular studies in affected patients showed a deletion of exon 6 in family 1 and an intronic mutation in family 2.