- Arch Dis Child 2014; 99(3): 197-202
Newborn screening for cystic fibrosis (CF) was introduced in London and south-east England in 2007. The aim of this study was to assess the number of missed cases and to compare the age at diagnosis and other clinical parameters.
Newborn screening, which is performed using the card-tried blood obtained for the Guthrie test, detects immunoreactive trypsin.
If this is over the 99.5th centile, DNA analysis is carried out.
The authors examined the case notes and database in seven CF centres for 18 months before and four years after the introduction of screening, with 347 patients being diagnosed with CF.
However, 126 patients had not been screened (born abroad or before introduction) and had median age 2.4 years (excluding those with meconium ileus, a strong predictor of CF).
The median time to diagnosis from initial symptoms was one year and in 10%, six years.
After screening started, 170 were diagnosed by it, seven moved into the region after being screened elsewhere, 34 presented with meconium ileus (six of whom were negative on screening) and 10 screened children were missed (false negatives). Median age at diagnosis was three weeks.
The conclusion is that screening has significantly reduced the age at diagnosis, although many had symptoms at three weeks.
The most important message is that children can be missed, even with screening, and it is important to consider this diagnosis if there is clinical suspicion, even if the screening test is negative.
NSAID use in high-risk patients
- Br J Gen Pract 2014; 64(621):e191-8. doi: 10.3399/bjgp14X677815
This population-based cross-sectional study in the Netherlands aimed to assess the use of OTC NSAIDs in high-risk groups.
Patients were selected from four Rotterdam practices. A sample of 118 adults aged >18 and of 264 high-risk adults were sent a questionnaire.
High-risk patients were those aged >70, with a history of peptic ulcer and two or more of: age 60-70, use of an anticoagulant or aspirin, corticosteroid, SSRI, history of severe rheumatoid arthritis, diabetes or heart failure, MI, stroke or eGFR <30.
Response rates were 26% in the general population and 37% in the high-risk population. In total, 30% of the general and 13% of the high-risk sample had used NSAIDs in the previous four weeks. In both groups, NSAIDs were often used for more than the recommended seven days.
Better patient education seems to be the answer.
Anastrozole in breast cancer prevention in high-risk women
- Lancet 2014; 383(9922): 1041-8
This study aimed to assess the efficacy and safety of anastrozole for primary prevention of breast cancer in postmenopausal women.
Between 2003 and 2012, postmenopausal women aged 40-70 with increased risk of breast cancer (based on specific criteria) were recruited from 18 countries.
They were randomly assigned to receive anastrozole (n=1,920) or placebo (n=1,944) in a five-year trial. The endpoint was histologically proven breast cancer.
After five years' median follow-up, 40 women (2%) in the anastrozole group and 85 (4%) in the placebo group had developed breast cancer.
The predicted cumulative index of all breast cancers after seven years was 5.6% in the placebo group and 2.8% in the anastrozole group.
There were 18 deaths in the anastrozole group and 17 in the placebo group, with no cause of death predominating in either group.
The authors' conclude that anastrozole is effective in preventing breast cancer in high-risk postmenopausal women.
Risk of Dupuytren's contracture
- Occup Environ Med 2014; 71(4): 241-5
Heavy manual work contributes to the development of Dupuytren's contracture (DC), but there is little data on any possible link with hand-transmitted vibration (HTV).
In this study, a questionnaire was sent to 21,210 men aged 16-64 years, selected randomly from 34 practices, and to 993 men selected from military pay records. It asked about exposure to HTV and fixed flexion of the little or ring finger.
In total, 4,969 men responded, including 72 with DC, 2,287 with occupational exposure to HTV and 409 with a relatively high level of exposure in the previous week. After statistical analysis and correction for age, social class and manual occupation, it was found that the risk of DC was raised 1.5-fold in men with a history of HTV. For those exposed in the previous week, the risk was increased 2.85 times.
- Dr Glenesk is a GP in Aberdeen and a member of our team who regularly review the journals
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