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1.
Pirkko Santavuori M.D Raili Raininko M.D Sanna-Leena Vanhanen M.D Jyrki Launes M.D Kimmo Sainio M.D 《Developmental medicine and child neurology》1992,34(1):61-65
Two patients with infantile neuronal ceroid lipofuscinosis are presented whose clinical diagnosis was based on the typical clinical picture, together with absent sleep spindles and MRI findings (hypointense thalami and hyperintense periventricular white matter) as early as 18 months in one girl. In addition to a flat cortical SEP, these abnormalities appeared earlier than the typical ERG and VEP findings used previously for clinical diagnosis of this condition. MRI of the other patient showed the same changes and EEG sleep spindles were absent by two years. 相似文献
2.
Hyperhidrosis as a reflection of autonomic failure in patients with acute hemispheral brain infarction. An evaporimetric study. 总被引:2,自引:0,他引:2
J T Korpelainen K A Sotaniemi V V Myllyl? 《Stroke; a journal of cerebral circulation》1992,23(9):1271-1275
BACKGROUND AND PURPOSE: Sweating dysfunction is one of the most frequently encountered symptoms of autonomic failure but has received scant attention in patients with cerebrovascular diseases. Our purpose was to evaluate the prevalence, pathogenesis, and clinical correlates of sweating dysfunction in stroke. METHODS: We studied sweating at baseline and after a heating stimulus in 53 patients with acute hemispheral brain infarction and in 40 healthy control subjects by using a quantitative evaporimetric method. RESULTS: Significant hyperhidrosis on the paretic side of the body was verified in 55% of the patients at baseline, in 74% after 5 minutes of heating, and in 77% after 10 minutes of heating. Hyperhidrosis was established throughout the body and correlated with the severity of paresis, the presence of reduced muscle tone, and the extensor plantar response. CONCLUSIONS: The phenomenon of hyperhidrosis in hemiparetic patients reflecting autonomic dysfunction seems to be a common manifestation that should be listed among the expected consequences of brain infarction. This sweating disturbance might be attributed to a lesion of a putative sympathoinhibitory pathway controlling sweating. The failure of this pathway could also be related to other manifestations of sympathetic hyperfunction, e.g., cardiac complications. Therefore, assessment of sweating may provide a new, important aspect in the evaluation of stroke patients. 相似文献
3.
Myotonia congenita in northern Finland: an epidemiological and genetic study. 总被引:1,自引:0,他引:1
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An epidemiological and genetic investigation of myotonia congenita was carried out in northern Finland. Altogether 58 patients were identified (of whom 54 lived in the study area) in 23 families, with a prevalence of 7.3 per 100000. The majority of the families originated from a sparsely populated area in western Lapland. The mean age at onset of the disease was 11 years with a range of 2 to 45 years. The mean time that had passed before verification of the clinical disease was 18 (SD 14) years. The sex ratio M/F was 2.2/1.0. Forty-seven cases were familial and 11 were sporadic. In six families/pedigrees the inheritance was compatible with autosomal recessive and in two families with autosomal dominant inheritance. In five additional families, in which autosomal recessive inheritance seemed most plausible, vertical transmission was also noticed. This could be explained either by consanguinity of the parents or by variant expression of the mutation(s) involved. Our results suggest that myotonia congenita is unusually frequent in northern Finland, most probably as a consequence of an enrichment of the gene mutation(s) in the population. 相似文献
4.
5.
Levodopa, bromocriptine and selegiline modify cardiovascular responses in Parkinson's disease 总被引:2,自引:0,他引:2
Haapaniemi TH Kallio MA Korpelainen JT Suominen K Tolonen U Sotaniemi KA Myllylä VV 《Journal of neurology》2000,247(11):868-874
Autonomic nervous system (ANS) involvement is frequently found in Parkinson's disease (PD), but its causal relationship to
the disease itself and its medication is unclear. We evaluated the effects of PD medications on cardiovascular ANS functions.
Heart rate (HR) responses to normal and deep breathing, the Valsalva manoeuvre and tilting, and blood pressure (BP) responses
to tilting and isometric work were measured prospectively in 60 untreated PD patients randomised to receive either levodopa
(n=20), bromocriptine (n=20) or selegiline (n=20) as their initial treatment. The results were compared with those of 28 healthy controls. The responses were recorded
at baseline, after 6 months on medication and following a 6-week washout period. At baseline HR responses to normal breathing,
deep breathing and tilting were already lower and the fall in the systolic BP immediately and at 5 min after tilting was more
pronounced in the PD patients than in the controls. Six months' levodopa treatment diminished the systolic BP fall after tilting
when compared to baseline, whereas bromocriptine and selegiline increased the fall in systolic BP after tilting and selegiline
diminished the BP responses to isometric work. The BP responses returned to the baseline values during the washout period.
The drugs induced no change in the HR responses. Thus PD itself causes autonomic dysfunction leading to abnormalities in HR
and BP regulation and the PD medications seem to modify ANS responses further. Bromocriptine and selegiline, in contrast to
levodopa, increase the orthostatic BP fall and supress the BP response to isometric exercise reflecting mainly impairment
of the sympathetic regulation.
Received: 17 February 2000 / Received in revised form: 25 May 2000 / Accepted: 15 June 2000 相似文献
6.
Physical inactivity in patients with rheumatoid arthritis: data from twenty-one countries in a cross-sectional, international study 总被引:1,自引:0,他引:1
Sokka T Häkkinen A Kautiainen H Maillefert JF Toloza S Mørk Hansen T Calvo-Alen J Oding R Liveborn M Huisman M Alten R Pohl C Cutolo M Immonen K Woolf A Murphy E Sheehy C Quirke E Celik S Yazici Y Tlustochowicz W Kapolka D Skakic V Rojkovich B Müller R Stropuviene S Andersone D Drosos AA Lazovskis J Pincus T;QUEST-RA Group 《Arthritis and rheumatism》2008,59(1):42-50
OBJECTIVE: Regular physical activity is associated with decreased morbidity and mortality. Traditionally, patients with rheumatoid arthritis (RA) have been advised to limit physical exercise. We studied the prevalence of physical activity and associations with demographic and disease-related variables in patients with RA from 21 countries. METHODS: The Questionnaires in Standard Monitoring of Patients with Rheumatoid Arthritis (QUEST-RA) is a cross-sectional study that includes a self-report questionnaire and clinical assessment of nonselected consecutive outpatients with RA who are receiving usual clinical care. Frequency of physical exercise (>or=30 minutes with at least some shortness of breath, sweating) is queried with 4 response options: >or=3 times weekly, 1-2 times weekly, 1-2 times monthly, and no exercise. RESULTS: Between January 2005 and April 2007, a total of 5,235 patients from 58 sites in 21 countries were enrolled in QUEST-RA: 79% were women, >90% were white, mean age was 57 years, and mean disease duration was 11.6 years. Only 13.8% of all patients reported physical exercise>or=3 times weekly. The majority of the patients were physically inactive with no regular weekly exercise: >80% in 7 countries, 60-80% in 12 countries, and 45% and 29% in 2 countries, respectively. Physical inactivity was associated with female sex, older age, lower education, obesity, comorbidity, low functional capacity, and higher levels of disease activity, pain, and fatigue. CONCLUSION: In many countries, a low proportion of patients with RA exercise. These data may alert rheumatologists to motivate their patients to increase physical activity levels. 相似文献
7.
Rheumatoid arthritis (RA) is a chronic, progressive, debilitating disease that demands continuous therapy with multiple medications. Noncompliance with disease-modifying drugs may cause disease flares, preventable functional impairment, unnecessary treatment changes, and loss of health care resources. The aim of the current study was to explore self-reported compliance with treatment and the factors contributing to this compliance using a representative sample of an RA patient population in Estonia. Two thousand patients diagnosed with RA were randomly selected from the Estonian Health Insurance Fund database. The eligible response rate of the study was 60%. Using prestructured questionnaires, the following information about the disease and treatment was evaluated: self-reported compliance with treatment, reasons for noncompliance, disease history, sociodemographic variables, health care utilization, and satisfaction with health care providers. The self-reported compliance rate was 80.3%, reflecting the percentage of patients who reported that they always took their medications exactly as described. The most often reported reasons for noncompliance were side effects and fear of side effects. Compliance was found to be the lowest in a group of younger and active patients with higher income. Higher frequency of visits to the rheumatologist, satisfaction with health care providers, and sufficient information about RA treatment correlated with better compliance. 相似文献
8.
9.
Hannonen R Tupola S Ahonen T Riikonen R 《Developmental medicine and child neurology》2003,45(4):262-268
Previous studies have shown that recurrent severe hypoglycaemia can cause long-term cognitive impairment in children with type-1 diabetes, but the results are controversial, possibly due to the heterogeneity of samples and lack of comprehensive neuropsychological assessments of children. The aim of this study was to assess the effects of diabetes and severe hypoglycaemia on the neurocognitive functioning of children with a standardized, wide age-range neuropsychological test battery designed for the assessment of children. Eleven children with diabetes and a history of severe hypoglycaemia, 10 children with diabetes without a history of severe hypoglycaemia, and 10 healthy control children (a total of 31 children: 14 males and 17 females, age range 5 years 6 months to 11 years 11 months, mean 9 years 4 months, SD 1 year 11 months) were studied using the Wechsler Intelligence Scale for Children-Revised (WISC-R) and the NEPSY, a Developmental Neuropsychological Assessment. The NEPSY assessed development in attention and executive functions, language, sensorimotor functions, visuospatial processing, and learning and memory. Children with a history of severe hypoglycaemia had more neuropsychological impairments, more learning difficulties (as reported by parents), and needed more part-time special education than those in the other groups. Significant differences were found in verbal short-term memory and phonological processing. Results suggest that severe hypoglycaemia is a risk factor for learning due to deficits in auditory-verbal functioning. 相似文献
10.
Reproductive effects of valproate, carbamazepine, and oxcarbazepine in men with epilepsy 总被引:15,自引:0,他引:15
Rättyä J Turkka J Pakarinen AJ Knip M Kotila MA Lukkarinen O Myllylä VV Isojärvi JI 《Neurology》2001,56(1):31-36
BACKGROUND: Recent observations have indicated that reproductive endocrine disorders are common among women taking valproate (VPA) for epilepsy, but it is not known whether respective abnormalities develop in men taking VPA for epilepsy. Carbamazepine (CBZ) may induce endocrine disorders in men with epilepsy, but the endocrine effects of oxcarbazepine (OXC) are not known. METHODS: Reproductive endocrine function was evaluated in 90 men taking VPA (n = 21), CBZ (n = 40), or OXC (n = 29) as monotherapy for epilepsy and in 25 healthy control men. RESULTS: Twelve men (57%) taking VPA had increased serum androgen levels. The mean serum level of androstenedione was high in patients taking VPA. Serum levels of dehydroepiandrosterone sulfate were low, and serum concentrations of sex hormone-binding globulin (SHBG) were high in men taking CBZ. The endocrine effects of OXC seemed to be dose-dependent, because serum hormone levels were normal in patients with low OXC doses (< 900 mg/day), but serum concentrations of testosterone, gonadotropins, and SHBG were high in patients with a daily OXC dose > or = 900 mg. CONCLUSIONS: VPA increases serum androgen concentrations in men with epilepsy. The endocrine effects of CBZ and OXC were different, because CBZ appears to decrease the bioactivity of androgens, whereas OXC does not. 相似文献