Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

OBJECTIVE: To establish criteria for the diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in the UK population using a method in which carnitine species eluted from blood spots are butylated and analysed by electrospray ionisation tandem mass spectrometry (ESI-MS/MS). DESIGN: Four groups were studied: (1) 35 children, aged 4 days to 16.2 years, with proven MCAD deficiency (mostly homozygous for the A985G mutation, none receiving carnitine supplements); (2) 2168 control children; (3) 482 neonates; and (4) 15 MCAD heterozygotes. RESULTS: All patients with MCAD deficiency had an octanoylcarnitine concentration ([C8-Cn]) > 0.38 microM and no accumulation of carnitine species > C10 or < C6. Among the patients with MCAD deficiency, the [C8-Cn] was significantly lower in children > 10 weeks old and in children with carnitine depletion (free carnitine < 20 microM). Neonatal blood spots from patients with MCAD deficiency had a [C8-Cn] > 1.5 microM, whereas in heterozygotes and other normal neonates the [C8-Cn] was < 1.0 microM. In contrast, the blood spot [C8-Cn] in eight of 27 patients with MCAD deficiency > 10 weeks old fell within the same range as five of 15 MCAD heterozygotes (0.38-1.0 microM). However, the free carnitine concentrations were reduced (< 20 microM) in the patients with MCAD deficiency but normal in the heterozygotes. CONCLUSIONS: Criteria for the diagnosis of MCAD deficiency using ESI-MS/MS must take account of age and carnitine depletion. If screening is undertaken at 7-10 days, the number of false positive and negative results should be negligible. Because there have been no instances of death or neurological damage following diagnosis of MCAD deficiency in our patient group, a strong case can be made for neonatal screening for MCAD deficiency in the UK.     

Video head impulse in comparison to caloric testing in unilateral vestibular schwannoma

Conclusions: Although there was a statistically significant relationship between the results of the vHIT and the caloric test, the limited strength of this relationship suggests that, for unilateral vestibular schwannoma (UVS), caloric testing and vHIT may provide complementary information on vestibular function.

Objective: There is limited information that can be used to determine which of the video head impulse test (vHIT) and caloric test might be better used in the diagnosis and management of UVS. In this study, a group of participants with un-operated UVS was studied using both methods.

Methods: The subjects’ vestibular function was assessed using the vHIT and caloric testing. Tumour size was quantified using MRI and their balance disturbance assessed using the Jacobsen Dizziness Handicap Inventory (DHI).

Results: Twenty of 30 subjects had an abnormal canal paresis according to the Jongkees’ criterion (>?0.25); however, only 10/30 had an ipsilesional vHIT gain of <0.79. Canal paresis could be predicted from the ipsilesional and contralesional vHIT gains. Tumour size could also be predicted from the ipsilesional vHIT gain and canal paresis. However, DHI scores could not be predicted from the degree of canal paresis, vHIT gain, or the MRI measures.     

The conventional versus automated measurement of blood pressure in the office (CAMBO) trial: masked hypertension sub-study

OBJECTIVES:: To determine the prevalence of masked hypertension [normal office blood pressure (BP) with high awake ambulatory BP] using automated office BP (AOBP) or conventional manual office BP (MOBP) measurement in routine clinical practice. METHODS:: The prevalence of masked hypertension was evaluated on three consecutive visits during a median 6 months period in patients with systolic hypertension randomized to management with AOBP (n?=?140) or continued conventional MOBP (n?=?112) in routine primary care practice. AOBP was recorded using the automated BpTRU device with the patient resting alone in a quiet examining room. All patients underwent 24-h ambulatory BP monitoring. RESULTS:: The prevalence of masked hypertension on any one of three visits calculated using only SBP varied between 12 and 17% in the AOBP group compared with 19 and 22 % in the MOBP group. Masked hypertension was present on both of the first two visits in 7 and 12% and on all three visits in 6 and 7% of AOBP and MOBP patients, respectively. The prevalence for masked hypertension based upon both SBP and DBP was similar being 11-15% for AOBP and 19-20% for MOBP patients on single visits, but decreased to 6 and 10% when readings from the first two visits were used and to 4 and 6% when all three visits were used for the AOBP and MOBP groups, respectively. CONCLUSION:: The prevalence of masked hypertension is lower with AOBP compared with MOBP. The number of patients with masked hypertension decreases if the criteria for having this condition need to be met on multiple visits.     

A Randomized Controlled Trial Comparing the Effects of Yoga With an Active Control on Ambulatory Blood Pressure in Individuals With Prehypertension and Stage 1 Hypertension

The purpose of this study was to compare the effects of yoga with an active control (nonaerobic exercise) in individuals with prehypertension and stage 1 hypertension. A randomized clinical trial was performed using two arms: (1) yoga and (2) active control. Primary outcomes were 24‐hour day and night ambulatory systolic and diastolic blood pressures. Within‐group and between‐group analyses were performed using paired t tests and repeated‐measures analysis of variance (time × group), respectively. Eighty‐four participants enrolled, with 68 participants completing the trial. Within‐group analyses found 24‐hour diastolic, night diastolic, and mean arterial pressure all significantly reduced in the yoga group (?3.93, ?4.7, ?4.23 mm Hg, respectively) but no significant within‐group changes in the active control group. Direct comparisons of the yoga intervention with the control group found a single blood pressure variable (diastolic night) to be significantly different (P=.038). This study has demonstrated that a yoga intervention can lower blood pressure in patients with mild hypertension. Although this study was not adequately powered to show between‐group differences, the size of the yoga‐induced blood pressure reduction appears to justify performing a definitive trial of this intervention to test whether it can provide meaningful therapeutic value for the management of hypertension.