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- Minde, Jan, et al.
(författare)
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A novel NGFB point mutation : a phenotype study of heterozygous patients
- 2009
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Ingår i: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ Publishing Group Ltd. - 0022-3050 .- 1468-330X. ; 80:2, s. 188-195
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor beta (NGFB) gene was recently described. The homozygous genotype gives disabling symptoms. The purpose of the present study was to evaluate the symptoms in heterozygous patients. METHODS: 26 patients heterozygous for the NGFB mutation (12 men, mean age 50 (13-90) years) were examined clinically and answered a health status questionnaire, including the Michigan Neuropathy Screening Instrument (MNSI). 28 relatives (15 men, mean age 44 (15-86) years) without the mutation served as controls in the clinical examination part. 23 of the heterozygotes were examined neurophysiologically and six heterozygous patients underwent a sural nerve biopsy. RESULTS: The heterozygous phenotype ranged from eight patients with Charcot arthropathy starting in adult age and associated with variable symptoms of neuropathy but without complete insensitivity to pain, anhidrosis or mental retardation, to 10 symptom free patients. There was no difference in MNSI between the young heterozygous cases (<55 years old) and the controls. Six of 23 heterozygous patients had impaired cutaneous thermal perception and 11 of 23 had signs of carpal tunnel syndrome. Sural nerve biopsies showed a moderate reduction of both small myelinated (Adelta) and unmyelinated (C) fibres. No apparent correlation of small fibre reduction to symptoms was found. CONCLUSIONS: The NGFB mutation in its heterozygous form results in a milder disease than in homozygotes, with a variable clinical picture, ranging from asymptomatic cases to those with Charcot arthropathy appearing in adult age. Particularly age, but perhaps lifestyle factors also, may influence the development of clinical polyneuropathy.
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- Helmerson, Birgitta, et al.
(författare)
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A pilot study of the feasibility of a Swedish multimodal group intervention for severe migraine - The migraine patient school
- 2021
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Ingår i: Cephalalgia Reports. - : SAGE. - 2515-8163. ; 4, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To evaluate a multidisciplinary group intervention, the migraine patient school (MPS), for patients with severe, mostly chronic migraine. Method: A 13-week group intervention program including seven sessions of patient education, practical body awareness and relaxation exercises, and home assignments was performed in small groups with 5–11 participants. Four groups were consecutively included from spring 2014 to fall 2015. Headache diaries and standardized and study-specific questionnaires were used for evaluation at baseline before MPS (pre-interventional phase), and at follow-up. Results: Twenty-four of 30 included patients completed the study, i.e. attended ≥ four sessions. Most participants found it rewarding to participate in the MPS and easy to take part in, understand and complete home assignments. Validated standardized questionnaires delivered before, and after (follow-up) MPS showed that the impact on life (HIT-6) and avoidance behavior (PIPS-A) were significantly improved whereas quality of life (MSQL), anxiety and depression (HAD) and perceived stress (PSS-14) did not show a statistically significant change. Conclusion: The Migraine patient school with a multimodal educational and behavioral group intervention program was feasible to perform and seem to benefit patients with severe (high-frequency or chronic) migraine. © The Author(s) 2021.
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- Matharu, M, et al.
(författare)
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Utilization and safety of onabotulinumtoxinA for the prophylactic treatment of chronic migraine from an observational study in Europe
- 2017
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Ingår i: Cephalalgia : an international journal of headache. - : SAGE Publications. - 1468-2982. ; 37:14, s. 1384-1397
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Tidskriftsartikel (refereegranskat)abstract
- To examine treatment utilization patterns and safety of onabotulinumtoxinA for the prophylactic treatment of chronic migraine in routine clinical practice. Background Clinical trials support onabotulinumtoxinA for the prophylaxis of headache in patients with chronic migraine, but real-world data are limited. Design/methods A prospective, observational, post-authorization study in adult patients with chronic migraine treated with onabotulinumtoxinA. Data were collected at the first study injection and approximately every three months for ≤52 weeks for utilization and ≤64 weeks for safety data, and summarized using descriptive statistics. Results Eighty-five physicians (81% neurologists) at 58 practices in the United Kingdom, Germany, Spain, and Sweden participated and recruited 1160 patients (84.2% female, median age 46.6 years). At baseline, 85.8% of patients had physician diagnoses of chronic migraine/transformed migraine and reported an average of 11.3 (SD = 6.9) severe headache days per 28 days; 50.6% had previously used onabotulinumtoxinA for chronic migraine. A total of 4017 study treatments were observed. The median number of injection sites (n = 31) and total dose (155 U) were consistent across all treatment sessions, with a median 13.7 weeks observed between sessions. At least one treatment-related adverse event was reported by 291 patients (25.1%); the most frequently reported treatment-related adverse event was neck pain (4.4%). Most patients (74.4%) were satisfied/extremely satisfied with onabotulinumtoxinA treatment. Conclusions Patient demographics/characteristics are consistent with published data on the chronic migraine population. Utilization of onabotulinumtoxinA treatment for chronic migraine appears to be consistent with the Summary of Product Characteristics and published PREEMPT injection paradigm. No new safety signals were identified.
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