The role of the family history as a tool for the diagnosis of inherited thrombophilia has not been established. Several authors have indicated that a positive family history is not a good predictor of inherited abnormalities such as antithrombin III deficiency, or deficiencies of protein C or protein S. We have tried to approach the family history in a quantitative way. To this end we used the ...

Although the association of autism with Down's syndrome is said to be uncommon, several reports have described the co-occurrence of the two disorders. This report describes three additional cases of Down's syndrome with autism. In all the patients, a history suggestive of the broader phenotype of autism was obtained in parents. This suggests that familial factors specific to autism may play an ...

Family history information is an important part of understanding a patient's total health, and it is spread in text throughout the clinical record; mostly untagged and often very unstructured. We have performed a syntactic analysis of family history in 1274 sample clinical texts and created an algorithm to extract specific family history information. Using the Stanford NLP Parser, we created pa...

The approximately tenfold increase in risk (1 in 250 to 1 in 25) to those who have a positive but not extensive family history of recurrent seizures would seem to be considerable but the actual figure of 4% is small. Only if the family history concerns at least 2 closely related members does the risk reach the 10% mark (on the borderline between high and low), but even then the burden of the di...

Patients and methods In 2 of the participating centers (Lausanne-Geneva, Switzerland; Bordeaux, France), we questioned all parents during a phone call interview to complete the family history. We used the same questionnaire for a control group from a general pediatric consultation. We asked for positive family history of recurrent fevers, PFAPA and rheumatologic diseases. Patients and controls ...

The authors examined the relation between family history of prostate cancer and the risk of this cancer in a population-based case-control study conducted in Massachusetts between December 1992 and October 1994. Cases were all incident cases of prostate cancer in men younger than 70 years (n = 563); controls were men with no history of the disease matched to the cases on age and town of residen...

Family history information has emerged as an increasingly important tool for clinical care and research. While recent standards provide for structured entry of family history, many clinicians record family history data in text. The authors sought to characterize family history information within clinical documents to assess the adequacy of existing models and create a more comprehensive model f...

background: hemophilia is the most frequent severe hereditary hemorrhagic disease due to deficiency of coagulation factors viii (hemophilia a) or ix (hemophilia b) in plasma. we aimed to identify patients with hemophilia in kermanshah, iran and assess the incidence of inhibitors in this population and its associated factors. methods: this study was conducted on patients with hemophilia a and b ...