PURPOSE Although the mutator phenotype, including genetic and epigenetic alterations of the mismatch repair (MMR) system, seems to be pronounced in familial colorectal cancer, there have been few integrative studies comprising the entire mutator pathway. This study was done to identify the entire mutator pathway determining risk factors in patients with familial colorectal cancer not fulfilling...

Frontotemporal lobar degeneration (FTLD), the most frequent neurodegenerative disorder with a presenile onset, presents with a spectrum of clinical manifestations, ranging from behavioral and executive impairment to language disorders and motor dysfunction. Familial aggregation is frequently reported, and about 10% of cases have an autosomal dominant transmission. Microtubule associated protein...

One hundred and one first degree relatives of 35 patients with chondrocalcinosis were examined for the presence of familial disease. Eleven subjects from nine families showed radiological chondrocalcinosis, a prevalence of familial disease of 26%. Two different patterns of disease were noted--the older generation was more commonly affected, and the younger generation and second degree relatives...

BACKGROUND The household is a recognized community reservoir for Staphylococcus aureus. This study investigated potential risk factors for intra-household S. aureus transmission, including the contribution of environmental contamination. METHODS We investigated intra-household S. aureus transmission using a sample of multiple member households from a community-based case-control study examini...

The scientific debates on the future of human lifespan and its possible biological limits has revealed a great need for direct identification of longevity boundaries, if they really exist. The key question posed in this study is how can we possibly determine the age when human longevity starts? To address this problem, we studied the familial transmission of human lifespan from parents to daugh...

The scientific debates on the future of human life span and its possible biological limits revealed a great need for direct identification of longevity boundaries, if they really exist. The key question posed in this study is as follows: how can we possibly determine the age when human longevity starts? To address this problem, we studied the familial transmission of human life span from parent...

PurposeInter-frame and intra-frame motion can adversely impact the performance of dynamic brain PET imaging. Only correcting the former can still result in degraded qualitative and quantitative performance. Meanwhile, patient motion introduces mismatches between transmission and emission data which may lead to incorrect attenuation and scatter compensation in the reconstruction process. As a re...

Familial hyperproinsulinemia is an autosomal dominant defect that is associated with strikingly elevated levels of serum proinsulin-like material. Our studies show that trypsin converts familial hyperproinsulinemia proinsulin to insulin more slowly than it converts a 131I-labeled porcine proinsulin marker. Molar yields of insulin indicated that the material may be an intermediate proinsulin. St...

Intra-abdominal desmoid tumors are commonly associated with genetic syndromes such as familial polyposis coli. Radiological cross imaging studies such as CT and MRI are used in the preoperative work-up of such tumors. Postoperatively, CT and MRI are useful in the assessment of recurrent desmoid tumors. MRI is more accurate in tissue characterization. Where possible, surgical resection remains t...

Intra-abdominal fibromatosis (IAF) may arise either sporadically or in association with familial adenomatous polyposis. The characteristics of fibromatosis are slow-growth, benign histological features, and aggressive local invasion. Surgery remains a reasonable first treatment option. Here, we report 2 cases of a phenomenon rarely described in published literature, IAF after gastrectomy for ga...