BACKGROUND A higher frequency of skewed X chromosome inactivation has been reported in a consecutive series of young patients with breast cancer compared with controls of a similar age. OBJECTIVE To investigate the X inactivation pattern in patients with familial non-BRCA1/BRCA2 breast cancer (n = 272), BRCA1/BRCA2 germline mutations (n = 35), and sporadic breast cancer (n = 292). METHODS X...

OBJECTIVE To estimate familial aggregation of rheumatoid arthritis (RA) in 3 large population-representative samples and to test if familial aggregation is affected by rheumatoid factor (RF)/anti-citrullinated protein antibody (ACPA) status, type of relative, sex, and age at onset of RA. METHODS A register-based nested case-control study was performed in the Swedish total population. Data on ...

BACKGROUND Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases. METHODS We have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied...

Residential architecture in Bali consists of housing the highlands with a linear pattern (luan-teben pattern) and lowlands sanga mandala pattern. The two residential ways form building masses' configuration natah (plaza or open space) as binding space. zoning system masses creates dualism relationship that contains Utama (high value) nista (low meanings. forms mass different functions character...

Familial occurrence of Scheuermann's juvenile kyphosis is well known, but no specific mode of inheritance has been recognized. We describe five families in which the disease seems to follow and autosomal dominant pattern of inheritance.

The prevalence of childhood obesity has reached alarming rates world-wide. The aetiology seems to be an interplay between genetic and environmental factors, and a surrogate measure of this complex interaction is suggested as familial predisposition. Familial predisposition to obesity and related cardiovascular disease (CVD) complications constitute the presence of obesity and/or obesity-related...

The smart grid is an important application field of the Internet of things. This paper presents a method of user electricity consumption pattern analysis for smart grid applications based on the audio feature EEUPC. A novel similarity function based on EEUPC is adapted to support clustering analysis of residential load patterns. The EEUPC similarity exploits features of peaks and valleys on cur...