BACKGROUND The relative contribution of mutations in the presenilin (PSEN) and amyloid precursor protein genes to autosomal dominant and other early-onset Alzheimer disease (AD) cases is not well established. OBJECTIVES To clarify the respective contribution of the amyloid precursor protein and PSEN mutations to autosomal dominant AD and to determine its contribution to sporadic and familial ...

BACKGROUND Although the heritability of atrial fibrillation (AF) has been determined, the relevance of family history of AF for the likelihood of recurrent hospitalization for AF is unknown. The aim of this nationwide study was to determine whether family history of AF is a risk factor of recurrent hospitalization for lone AF (LAF), i.e., AF with unknown etiology. The familial risk for first ti...

OBJECTIVES To evaluate whether a significant difference in chromogranin A (CgA) levels exist between patients with familial and sporadic cancer. METHODS The study included 146 patients with clinically localized prostate adenocarcinoma (Stage T2N0M0), who underwent radical prostatectomy between June 1999 and June 2004. Patients were considered to have a positive family history for prostate can...

The association between a familial history of autoimmune disease and childhood acute leukemia was investigated in a French case-control study that, overall, was designed to assess the role of perinatal, infectious, environmental, and genetic factors in the etiology of childhood acute leukemia. Familial histories of autoimmune disease in firstand second-degree relatives were compared in 279 inci...

BACKGROUND Lower socioeconomic status is generally associated with an increased risk of end-stage renal disease (ESRD). The relationship between community characteristics reflecting socioeconomic status and familial aggregation of common forms of ESRD has not been studied. METHODS Demographic data and family history of ESRD were collected from 23,880 incident dialysis patients in ESRD Network...

Myelodysplastic syndrome (MDS), is a group of heterogeneous disorders of hematopoietic stem cell colonies which is determined by incomplete hematopoiesis in one or more cell lines. The incidence increases with age and it has less been reported among patients under 50 years of age. The commonest form of MDS is sporadic, and familial occurrence of MDS is rare. Patients with familial MDS are young...

We report a rare association of hepatocellular carcinoma with familial adenomatous polyposis in a young patient and its clinical significance. A 28-year-old female with a past medical history of familial adenomatous polyposis (FAP) and subsequent colonic adenocarcinoma underwent total colectomy. She later presented with intermittent right upper quadrant pain and nausea of four months' duration....

BACKGROUND Familial aggregation has been shown for Alzheimer's disease (AD) and Parkinson's disease (PD) separately, and it has been hypothesized that these diseases also coaggregate in families. METHODS The authors investigated familial coaggregation of AD and PD by conducting a systematic review and meta-analysis. PubMed was searched for relevant studies published through the end of October...

An 85yearold woman presented with platonychia and koilonychia (spoonshaped nails) of the fingers and toes which were present since her early childhood (Figure 1A and B). On physical examination, all her fingernails were spoonshaped with rough and darkened distal edges. Her toenails were thin and flat, except for the nails of the big toes, which exhibited the same abnormalities as the fingernail...