Health related quality of life measures in Friedreich Ataxia

Evaluation of therapeutic agents for Friedreich Ataxia (FA) has been limited by a lack of adequate markers of disease progression. We assessed the capacity of health related quality of life (HRQOL) questionnaires to reflect disease status in FA. The SF-36 and several symptom-specific scales were administered to an FA cohort. Scores were compared with norms for the United States population, and to a disease-free control group of similar age and gender. FA patients had significantly lower SF-36 Physical Component Summary scores (PCS) and Physical Functioning Subscale (PFS) scores, and both PCS and PFS scores correlated significantly with disease duration and disability status. Mental Component Summary scores (MCS) did not differ between FA patients and controls. Among symptom-specific scales, scores for the Pain Effects, Bladder Control, and Modified Fatigue Impact scales were significantly worse among FA patients than controls, and generally correlated with markers of disease progression. Findings of this study are consistent with the phenotypic characteristics of FA, and suggest that HRQOL measures are potentially useful as clinical markers of disease status in FA.     

Liver biopsy in a district general hospital： Changes over two decades

AIM： To study liver biopsy practice over two decades in a district general hospital in the United Kingdom.
METHODS： We identified all patients who had at least one liver biopsy between 1986 and 2006 from the databases of the radiology and gastroenterology departments. Subjects with incomplete clinical data were excluded from the study.
RESULTS： A total of 103 liver biopsies were performed. Clinical data was available for 88 patients, with 95 biopsies. Between 1986 and 1996, 18 （95%） out of the 19 liver biopsies performed were blind and 6 （33%） were for primary biliary cirrhosis. Between 1996 and 2006, 14 （18%） out of 76 biopsies were blind; and the indications were abnormal liver tests （33%）, hepatitis C （12%） and targeted-biopsies （11%）. Liver biopsies were unhelpful in 5 （50） subjects. Pain was the most common complication of liver biopsy （5%）. No biopsy-related mortality was reported. There was a trend towards more technical failures and complications with the blind biopsy technique.
CONCLUSION： Liver biopsies performed in small district hospitals are safe and useful for diagnostic and staging purposes. Abnormal liver tests, non-alcoholic fatty liver disease and targeted biopsies are increasingly common indications. Ultrasound-guided liver biopsies are now the preferred method and are associated with fewer complications.     

Interest in predictive testing for Parkinson's disease: impact of neuroprotective therapy

As predictive testing for Parkinson's disease (PD) becomes available, it will be important to understand in whom such testing will be used. To address this issue, we conducted a mail survey of 138 first-degree relatives of PD patients. In the absence of treatment, 60% reported that they would either “definitely” or “probably” be interested in predictive testing. In the setting of a clinical trial, this number increased to 71% (p=0.04) and when neuroprotective therapy is available, interest increased to 90% (p<0.001). Interest in predictive testing for PD is moderate in the absence of effective therapy, and goes up significantly when both clinical trial participation and neuroprotective therapy are offered.     

The use of opioids at the end of life: the knowledge level of Dutch physicians as a potential barrier to effective pain management

Background  

Pain is still one of the most frequently occurring symptoms at the end of life, although it can be treated satisfactorily in most cases if the physician has adequate knowledge. In the Netherlands, almost 60% of the patients with non-acute illnesses die at home where end of life care is coordinated by the general practitioner (GP); about 30% die in hospitals (cared for by clinical specialists), and about 10% in nursing homes (cared for by elderly care physicians).     

The initial Mayo Clinic experience using high-frequency oscillatory ventilation for adult patients: a retrospective study

Background

Patients with traumatic brain injuries and raised intracranial pressure (ICP) display biphasic response with faster gastric emptying during the early stage followed by a prolonged gastric transit time later. While duodenal contractile activity plays a pivotal role in transpyloric transit we investigated the effects of raised intracranial pressure on duodenal motility during the early phase. In order to exclude significant deterioration of mucosal blood supply which might also influence duodenal motility, luminal microdialysis was used in conjunction.

Methods

During general anaesthesia, 11 pigs (32–37 kg, German Landrace) were instrumented with both a luminal catheter for impedancometry and a luminal catheter for microdialysis into the proximal duodenum. Additionally, a catheter was inserted into the left ventricle to increase the intracranial pressure from baseline up to 50 mmHg in steps of 10 mmHg each hour by injection of artificial cerebrospinal fluid. At the same time, duodenal motility was recorded continuously. Duodenal luminal lactate, pyruvate, and glucose concentrations were measured during physiological state and during elevated intracranial pressure of 10, 20, 30, 40, and 50 mmHg in six pigs. Five pigs served as controls.

Results

Although there was a trend towards shortened migrating motor cycle (MMC) length in pigs with raised ICP, the interdigestive phase I-III and the MMC cycle length were comparable in the groups. Spontaneous MMC cycles were not disrupted during intracranial hypertension. The mean concentration of lactate and glucose was comparable in the groups, while the concentration of pyruvate was partially higher in the study group than in the controls (p < 0.05). This was associated with a decrease in lactate to pyruvate ratio (p < 0.05).

Conclusion

The present study suggests that a stepwise and hourly increase of the intracranial pressure of up to 50 mmHg, does not influence duodenal motility activity in a significant manner. A considerable deterioration of the duodenal mucosal blood flow was excluded by determining the lactate to pyruvate ratio.