Screening for late-onset Pompe disease in western Denmark.

OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Thus, patients with a diagnosis of unspecified myopathy were screened for LOPD. MATERIALS AND METHODS: At seven neurological departments in the western part of Denmark, medical records were evaluated for all patients registered with myopathy diagnosis codes (ICD 10 codes: G 71.0-71.9 and G 72.0-72.9) during the period January 1, 2002, to December 31, 2012. If no specific diagnosis has been reached, patients were invited for screening. Dried blood spot (DBS) test was used to analyze the activity of the enzyme alpha-glucosidase. RESULT: A total of 654 patients were identified. From the medical records, information was obtained concerning symptoms, family history, electromyography, muscle biopsy results and creatine kinase levels. Eighty-seven patients (13.3%) (males 61%) at a mean age of 53.3 years (SD 16.5) fulfilled the criteria for screening. A DBS test was performed in 47 (54%) patients. In all patients, the enzyme activity was within reference values. CONCLUSION: None of the screened patients had a reduced activity of the enzyme alpha-glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.

Serum Fragments of Tau for the Differential Diagnosis of Alzheimer's Disease.

Differential diagnosis of AD is still a challenge due to overlapping features with other types of dementia. Biomarkers for the differential diagnosis of AD can improve the diagnostic value of the disease and ensure an appropriate treatment of patients. The aim of this study was to evaluate the potential of two neo-epitope fragments of Tau as serum biomarkers for differential diagnosis of AD. The neo-epitope fragments of Tau were assessed in a cross-sectional cohort of subjects with AD, MCI, other dementias or subjects with non-dementia related memory complaints. The two Tau neo-epitope fragments were an ADAM10-generated fragment (Tau-A) and a caspase-3-generated fragment (Tau-C). The serum levels of the fragments were measured by two competitive ELISAs detecting Tau-A and Tau-C, respectively. Tau-A and Tau-C were able to separate subjects with AD and MCI from those with other dementias (p<0.0042 and p<0.05), and Tau-A could also discriminate between AD and MCI patients and subjects with non-dementia related memory complaints (p<0.05). Tau-A showed a significantly greater discrimination between AD and MCI subjects and patients with other dementias when compared to CSF biomarkers t-Tau and p-Tau. The ability of Tau-A to differentiate between AD and MCI from other dementias was comparable with CSF Aß1-42, t-Tau/Aß1-42 and p-Tau/Aß1-42. The separation between the diagnostic groups was significantly improved when the CSF biomarkers as well as age and BMI were used in combination with Tau-A (AUC=0.87, 95% CI: 0.75-0.94) (p<0.0001). In conclusion, this study shows that a neoepitope fragment of Tau detected in serum can provide guidance on the differential diagnosis of AD.

Sensory function and pain in a population of patients treated for breast cancer.

BACKGROUND: Chronic pain is often reported after surgery for breast cancer. This study examined pain and sensory abnormalities in women following breast cancer surgery. METHODS: Sensory tests were carried out on the operated and contra-lateral side in 55 women with chronic pain after breast cancer treatment and in a reference group of 27 pain-free women, who had also undergone treatment for breast cancer. Testing included a numeric rating score of spontaneous pain, detection and pain threshold to thermal and dynamic mechanical stimuli and temporal summation to repetitive pinprick stimulation. The neuropathic pain symptom inventory was applied for participants with chronic pain. RESULTS: The mean age was 58.6 years for the pain patients and 60.6 years for the pain-free patients. Thermal thresholds were significantly higher on the operated side than on the contra-lateral side in both groups and side difference in warmth detection threshold was significantly higher in the pain group than in the pain-free group (mean 3.8 degrees C vs. 1.1 degrees C, P=0.01). The frequency of cold allodynia was higher in participants with pain than in pain-free participants (15/53 vs. 1/25, P=0.01), and the frequency of temporal summation evoked by repetitive pinprick was higher in participants with pain than in pain-free participants (23/53 vs. 2/25, P=0.0009). The frequency of dynamic mechanical allodynia did not differ significantly between the two groups. CONCLUSION: These findings suggest that chronic pain after surgery for breast cancer is associated with sensory hyperexcitability and is a neuropathic pain condition.

The postmastectomy pain syndrome: an epidemiological study on the prevalence of chronic pain after surgery for breast cancer.

The prevalence of the postmastectomy pain syndrome (PMPS) and its clinical characteristics was assessed in a group of patients who had undergone surgery for breast cancer at the Department of Surgery, Odense University Hospital, within the period of 1 May 2003 to 30 April 2004. The study included 258 patients and a reference group of 774 women. A questionnaire was mailed to the patients 1 1/2 year after surgery and to the women in the reference group. The PMPS was defined as pain located in the area of the surgery or ipsilateral arm, present at least 4 days per week and with an average intensity of at least 3 on a numeric rating scale from 0 to 10. The prevalence of PMPS was found to be 23.9%. The odds ratio of developing PMPS was 2.88 (95% confidence interval 1.84-4.51). Significant risk factors were as follows: having undergone breast surgery earlier (OR 8.12), tumour located in the upper lateral quarter (OR 6.48) and young age (OR 1.04). This study shows that, although recent advances in the diagnostic and surgical procedures have reduced the frequency of the more invasive surgical procedures, there still is a considerable risk of developing PMPS after treatment of breast cancer.

Effect of levetiracetam on the postmastectomy pain syndrome.

BACKGROUND AND PURPOSE: The aim of this randomized, double-blind, placebo-controlled, cross-over study was to test whether levetiracetam relieves the postmastectomy pain syndrome (PMPS). METHODS: Postmastectomy pain syndrome was defined as pain of neuropathic character located in the area of the surgery and/or the ipsilateral arm. The inclusion criteria were: age more than 18 years, characteristic symptoms corresponding to PMPS more than 6 months after surgery for breast cancer, pain duration more than 3 months, peripheral nerve lesions confirmed by abnormal neurological and quantitative sensory tests, intensity of pain more than 4 on a numeric rating scale from 0 to 10 and pain present at least 4 days a week. RESULTS: Forty-nine patients were screened for participation and 27 patients were included in the study. Twenty-five patients completed two treatment phases of 4 weeks duration with levetiracetam (3000 mg/day) and placebo. There was no difference in the rating of pain relief between treatment with levetiracetam (P = 0.83) and placebo nor when adjusted for possible period effect (P = 0.60). Analysis defining response as pain relief more than 4 on an eleven-point numeric rating scale showed no significant difference between treatment with levetiracetam and placebo (P = 1.00). CONCLUSIONS: Levetiracetam apparently does not relieve peripheral neuropathic pain in PMPS.

Effect of traditional Chinese acupuncture on severe tinnitus: a double-blind, placebo-controlled, clinical investigation with open therapeutic control.

This study aims to determine the effect of intensive acupuncture on severe tinnitus. The structure of the study was a randomized, double-blind, clinical investigation with open therapeutic surveillance and included 54 patients. All were subjected to 25 treatment sessions over a period of two months, each treatment lasting 30 minutes. Fifty-two patients completed the study. The variables used for self-registration were based on the visual analogue scale (VAS), where annoyance, loudness and awareness of the tinnitus were assessed. These were recorded twice daily over a four-month period starting one month before the first treatment and ending one month after the last treatment. Questionnaires, interviews and audiometry were carried out repeatedly. No statistically significant differences were found between the acupuncture group and the placebo group.