Population screening for colorectal cancer

Colorectal cancer screening is taking place throughout the UK, utilizing a combination of faecal occult blood testing, and if positive, colonoscopy. Screening aims to reduce mortality through early detection of colorectal cancer in a specifically targeted age range. This article aims to give an overview of the rationale behind colorectal cancer screening, and explain how screening takes place in different parts of the UK.     

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual disabilities in Europe or America after Fragile X syndrome, information on the morbidity of this disease is limited in Japan. Using the HPLC screening method we have established recently, we examined samples of urine of 105 patients (73 males and 32 females) with developmental disabilities at our medical center. And we have found a family with three ID boys with a novel missense mutation in SLC6A8. This is the second report of a Japanese family case of CTD. A systematic diagnostic system of this syndrome should be established in Japan to enable us to estimate its frequency and treatment.     

Using the learning disability screening questionnaire to help identify people with an intellectual disability in homeless services

Background

We explored the accuracy of using the learning disability screening questionnaire (LDSQ) in services for people experiencing homelessness in the United Kingdom.

Method

We examined the concordance between the LDSQ outcomes and assessments of intellectual disability. Seventy adults experiencing homelessness completed the LDSQ. Staff completed the LDSQ and a measure of adaptive functioning for 38 of this group. Nine participants received an intellectual assessment.

Results

Sensitivity and specificity for the LDSQ when completed by staff was 83% and 96% respectively and 50% and 92% when completed by the individual. Seven people had intellectual and adaptive functioning in the intellectual disability range.

Conclusion

The results suggest that the LDSQ would be an appropriate and beneficial screening tool to use within services for people experiencing homelessness. More accurate results would be likely if it were completed by staff.     

An Alternative Approach to Selecting Patients for High‐risk Screening with Breast MRI

Current guidelines for adding breast MRI to annual screening mammography are based entirely upon stratification of risk, with a heavy focus on lifetime calculations. This approach is fraught with difficulty due to the reliance on mathematical models that vary widely in their calculations, the inherent age discrimination of using lifetime risks rather than short‐term incidence, and the failure to incorporate mammographic density, the latter being an independent risk as well as the greatest predictor of mammographic failure. By utilizing a system of patient selection similar to what was used in the American College of Radiology Imaging Network (ACRIN) 6666 trial for multi‐modality imaging, 33 women without a prior diagnosis of breast cancer were found to harbor mammographically occult carcinoma through MRI screening. These 33 patients represent a 2% yield, closely approximating the yields seen in prospective MRI screening trials of women at very high risk of breast cancer. Using the “~20–25%” minimum established by the American Cancer Society and later the National Comprehensive Cancer Network, the Gail model would have prompted the use of MRI in only 9 of 33 (27.3%) patients, the Claus model 1 of 33 (3%), and the Tyrer–Cuzick model 12 of 33 (36.4%). Using all three models and opting for the highest calculated risk, then including BRCA‐positivity, still would have identified only 16 of 33 (48.5%) patients with occult breast cancer discovered by MRI. Only one patient was BRCA‐positive, and none had lobular carcinoma in situ, while 6 of 33 patients (18.2%) had atypical ductal hyperplasia (ADH). Measures are proposed to refine patient selection for MRI screening through the use of short‐term or categorical risks, mammographic density, while maintaining cost‐effectiveness through longer MRI screening intervals.