Magnetic resonance imaging of disorders with white matter changes in children and adolescents: a pictorial essay.

White matter changes are seen in a spectrum of disorders in children and adolescents. Understanding their distribution and appearance helps to reach diagnoses in daily radiologic practice. This pictorial essay will outline the magnetic resonance imaging (MRI) appearances of diseases with white matter changes including demyelinating diseases, dysmyelinating disorders/leukodystrophies, infections, autoimmune diseases, vascular causes, mitochondrial disorders and neurocutaneous syndromes, along with a brief overview of clinical aspects of the diseases such as typical age of presentation, etiology, symptoms and signs and treatment options. This article highlights important features in common white matter diseases in children and adolescents.

Scrotal wall metastasis as the first manifestation of primary gastric adenocarcinoma.

Metastases to the scrotal wall are very rare, and being the initial manifestation of occult primary tumours is even rarer. We report on a patient presenting with painless scrotal swelling, attributed to a solid extra-testicular mass found on ultrasonography. Subsequent investigations and surgical exploration revealed it to be a scrotal wall metastasis from an occult gastric primary. To our knowledge, this is the first report of a scrotal wall metastasis from gastric adenocarcinoma. The ensuing discussion and literature review highlight the diagnostic challenges posed by an extra-testicular scrotal metastasis from an occult primary tumour.

Validation of the Quality of Life Questionnaire of the European Foundation for Osteoporosis (QUALEFFO-31) in Chinese.

QUALEFFO-31 is a recently developed disease-specific instrument derived from QUALEFFO-41 and intended to have improved efficacy and response rates. We aimed to validate QUALEFFO-31 in Chinese and examine the use of QUALEFFO-31 in clinical practice. This questionnaire was translated into Chinese and applied to 118 case-control pairs aged between 50 and 85 years with prevalent osteoporotic vertebral fractures to evaluate its validity, repeatability, and discriminatory ability. It was also used to evaluate the quality of life (QOL) of 69 case-control trios with prevalent clinical and morphometric fractures. The QOL of all subjects was concurrently assessed using SF-36 for comparison. QUALEFFO-31 had good internal consistency with adequate convergent and discriminatory validity. The median test-retest repeatability ranged from 0.65-0.85. In general, there were good correlations between QUALEFFO-31 and SF-36. ROC curve analysis revealed that QUALEFFO-31 had significant ability to discriminate between clinical fracture subjects versus morphometric fracture subjects and controls. QUALEFFO-31 also demonstrated higher discriminatory capacity for pain. Subjects with clinical vertebral fractures (CVFs) had a significant reduction in QOL compared with other subjects. The QUALEFFO-31 is a useful tool for assessing QOL in Chinese. It was well accepted and significantly predictive of subjects with CVFs.

T-1213C polymorphism of estrogen receptor beta is associated with low bone mineral density and osteoporotic fractures.

Osteoporosis is a complex disease with a strong genetic component, but the genes involved are poorly defined. To determine whether estrogen receptor beta (ESR2) gene is an osteoporosis risk gene, we examined its association with bone mineral density (BMD) and fracture risk. Using a gene-based approach, a set of 12 polymorphisms of ESR2 was studied in 752 case-control pairs of southern Chinese in ethnicity. Among all polymorphisms, the most significant relation with BMD and fracture risk was observed with T-1213C. Subjects with low BMD had a higher frequency of the variant C allele of T-1213C (cases 11.4%, control 8.4%, P = 0.02). The C allele was associated with 4% reduction in BMD at both the spine and hip in women, and 11% reduction in spine BMD and 9% reduction in hip BMD in men. Similar results were seen with SNP haplotype analysis. Subjects with the C allele of T-1213C were associated with higher risks of osteoporosis and BMD T scores < or = -2.5 (odds ratios: 2.2 at spine and 3.5 at femoral neck for women; 3.5 at lumbar spine for men). Postmenopausal women carrying this C allele were associated with 2.22-fold increased risk of osteoporotic fractures (95% confidence interval 1.26-4.25) even after adjusting for BMD. In conclusion, ESR2 is involved in BMD determination in both sexes. The T-1213C polymorphism influences the risk of fracture in postmenopausal women independent of BMD.