Antenatal screening for trisomy 21 and 18
Am J Obstet Gynecol 2012; 206(4): 322e1-e5
The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18.
The combination of current screening methods can identify approximately 90% of fetuses with trisomy 21, 18 and 13.
This new technique exploits the presence of cell-free DNA (cfDNA) in maternal plasma. By selective sequencing of loci in specific chromosomes while at the same time assessing the fetal fraction of chromosomal fragments present, the researchers have been able to determine how much chromosome 21 or 18 is present and whether this is excessive.
The study presented the maternal plasma of 300 normal pregnancies, 50 pregnancies with trisomy 21, and 50 with trisomy 18 to the laboratory 'blind'. In all cases, the fetal karyotype was confirmed by chorionic villus sampling because all pregnancies fell in a risk banding of >1 in 300.
Using these techniques, the laboratory correctly identified all cases of trisomy 21 and 98% of cases of trisomy 18.
Although this technique, which is being pioneered at King's College Hospital, London, looks very promising, it must be recognised that these were cases at high risk and further work is needed to see how accurate it will prove at case-finding in mediumand low-risk populations when there are large numbers.
Diphtheria in a UK child: a case report
Arch Dis Child doi: 10.1136/archdischild-2011-300272
Although this is a case report, it is worthy of notice because diphtheria is just the sort of condition that GPs might not even consider when faced with it. Diphtheria is rare in the UK because of the successful immunisation programme.
Since 1986, there have been eight sporadic cases of Corynebacterium diphtheriae, all of which were acquired overseas in endemic areas.
This case represents the first UK death from C diphtheriae in 14 years where neither travel to an endemic area nor contact with a known case of diphtheria was identified.
This child was not immunised and the case raises the importance of being aware of whether a child has completed primary immunisation (or been immunised at all). Prompt recognition of the condition and timely administration of antitoxin may be life-saving.
Raised HDL cholesterol and outcome of reducing LDL
Heart 2012; 98: 780-5
GPs are often asked about the relative importance of HDL and LDL cholesterol when advising patients about therapeutic intervention and most of us talk a little vaguely about ratios, good HDL and bad LDL. It is little wonder that we are not clear, when the evidence itself has not been either.
Recent evidence from the Framingham Offspring Study suggested that increases in HDL cholesterol were associated with a reduction in cardiovascular outcomes - that is, in addition to that achieved by reducing LDL cholesterol.
This study set out to confirm or refute this, using data from the EPIC Norfolk and Rotterdam studies.
A total of 1,148 participants were assessed for lipids before and after starting lipid-lowering medication. Subsequent risk of cardiovascular events, obtained through linkage with mortality records and hospital databases, was investigated.
Once adjustments for cigarette smoking history, prevalent diabetes, systolic BP, BMI, use of antihypertensive medication, previous MI, prevalent angina and previous stroke were accounted for, no evidence of benefits was found.
Treating depression in nursing home residents
JAMDA 2012; 13(4): 326-31
The study authors carried out a systematic review of the literature to examine and compare the effectiveness of antidepressant medications used to treat major depressive symptoms in elderly nursing home residents.
A total of 11 studies, including four randomised and seven non-randomised open label trials, were included. Of the four randomised trials, two had a control group and showed no statistically significant benefit for antidepressant medication over placebo.
The non-randomised studies did rather better, with six out of seven studies demonstrating a response to antidepressant treatment.
At best, this shows a weak response and perhaps suggests that restraint should be shown in treating this patient group in this way.
Reducing the side-effects of prostate cancer treatment
Lancet 2012 doi: 10.1016/S1470-2045(12)70121-3
Whole gland therapy for prostate cancer can have significant genitourinary and rectal side-effects. This study set out to establish whether localised treatment for localised disease could reduce that incidence.
Patients received focal therapy using high-intensity focused ultrasound delivered to all known cancer lesions, with a margin of normal tissue identified on multiparametric MRI, template prostate-mapping biopsies, or both.
Primary endpoints were adverse events (serious and otherwise), and urinary symptoms and erectile function, assessed using patient questionnaires.
After treatment, one of the 42 men recruited died of an unrelated cause (pneumonia), one man was admitted with acute urinary retention and another had stricture intervention requiring hospital admission.
Temporary dysuria and urinary debris were not uncommon and UTI occurred in seven men.
Erectile function was similar at baseline and at 12 months, and intercourse satisfaction and sexual desire appeared to be unaffected.
All 38 men with no baseline urinary incontinence were leak-free and pad-free at 12 months.
- Dr Holliday is a GP in Berkshire and a member of our team who regularly review the journals.
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