Bone mineral density in adolescent girls with early onset of anorexia nervosa.

BACKGROUND & AIMS: To assess prevalence of bone mineral density (BMD) reduction and relationship between bone mineral status and anthropometric assessment, nutritional intake and physical activity in adolescents with early anorexia nervosa (AN). METHODS: Fifty-seven consecutive AN patients and 57 healthy controls underwent anthropometric status, bone density, body composition and physical activity evaluations. In AN patients clinical features and nutritional intake were also assessed. RESULTS: Thirty-five patients with AN (62%) and 44 healthy subjects (77%) (pNS) showed normal BMD. Mean value of BMD Z-score was -0.6+/-0.9 in AN patients and -0.2+/-1.4 in controls (pNS). Weight at diagnosis and lean mass resulted the main predictor of bone loss but also height, best weight before diagnosis and BMI resulted correlated with bone mineral status in AN patients. Additionally, AN patients maintained good levels of protein intake and sport activity CONCLUSIONS: Early diagnosis may prevent bone loss in AN patients. Protein intake and moderate physical activity seem to be useful to maintain an adequate bone mineral status.

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.