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排序方式: 共有3573条查询结果,搜索用时 15 毫秒
11.
Schwenkreis P Liepert J Witscher K Fischer W Weiller C Malin JP Tegenthoff M 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2000,135(3):293-299
The aim of our study was to measure the effects of the glutamate antagonist riluzole on different parameters of motor excitability, using transcranial magnetic stimulation (TMS) during 7 days of riluzole administration, and to correlate these effects with riluzole plasma levels. Nine healthy volunteers received a dose of 100 mg riluzole from day 1 to 7 of the study period. Electrophysiological examinations were performed on day 1 before and 2 h, 5 h and 8 h after riluzole administration, on day 2, day 3 and day 5 before riluzole administration, and on day 8. Plasma samples were taken simultaneously. The excitability of the motor cortex, supraspinal and spinal motor pathways was tested by studying intracortical facilitation and inhibition, the cortical silent period and motor threshold after TMS, as well as the peripheral silent period and F-wave amplitudes after electrical peripheral nerve stimulation. We found a significant reduction of intracortical facilitation, which correlated significantly with riluzole plasma levels. To a lesser extent, intracortical inhibition was enhanced on day 1, motor threshold was increased on day 8 and F-wave amplitudes were reduced. These changes did not correlate with riluzole plasma levels. We conclude that the main effect of riluzole in vivo is a reduction of intracortical facilitation, which is closely related to the drug's level in the plasma. The most probable mechanism involves an effect on glutamatergic synaptic transmission. 相似文献
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Vladimir Kenis Eugeniy Melchenko Ilya Mazunin Minna Pekkinen Outi Mäkitie 《American journal of medical genetics. Part A》2021,185(1):112-118
Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter). The mother's phenotype was relatively mild: borderline tall stature and elongated halluces operated during childhood. The children were remarkably more severely affected with tall stature, scoliosis, and elongated toes and fingers leading to suspicion of Marfan syndrome. Progressive valgus deformities (at the hips, knees, and ankles) were the main complaints and necessitated orthopedic investigations and surgery. Radiographs showed coxa valga, scoliosis, multiple pseudoepiphyses of the fingers and toes with uneven elongation of the digits and ankle valgus. The two older brothers underwent osteotomies and guided growth for axial deformities and arthrodesis for elongated halluces. Genetic testing confirmed the clinical diagnosis of ECDM: all affected individuals had a heterozygous c.2647G>A (p.Val883Met) NPR2 variant in a highly conserved region in the carboxyl‐terminal guanylyl cyclase domain. This two‐generation family elucidates the clinical and radiological variability of the disease. These rare cases are important to gain further understanding of the fundamental processes of growth regulation. 相似文献
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S L Spitalnik P F Spitalnik C Dubois J Mulshine J L Magnani F Cuttitta C I Civin J D Minna V Ginsburg 《Cancer research》1986,46(9):4751-4755
Several mouse monoclonal antibodies which recognize carbohydrate sequences distinguish between different types of human lung cancer immunohistologically. These antibodies bind to glycolipid antigens produced by the cancer cells. When these glycolipids are separated by thin-layer chromatography, immunostaining of the chromatograms yields complex patterns of antigen-positive bands. To determine whether glycolipid patterns are useful in the classification of lung cancer, 16 human lung cancer cell lines comprising the major histological types of primary lung cancer were studied. Neutral glycolipids and gangliosides were isolated and separated by thin-layer chromatography. Six anti-carbohydrate antibodies which recognize structurally related antigens were used for immunostaining. Neuraminidase treatment of the chromatograms was used to detect "cryptic" sialylated antigens. All the cell lines were unique with regard to the type, amount, and chromatography pattern of the glycolipid antigens produced. Small cell lung cancer cell lines synthesized the greatest variety of antigens, whereas cell lines with large cell cytology synthesized the least. Interestingly, there was an inverse relationship between expression of some glycolipid antigens and DNA amplification of the c-myc oncogene. This suggests that enhanced c-myc expression may influence the types of glycolipids expressed at the surface of lung tumor cells. 相似文献
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Mohan Srivarshini Cherukupalli Walcott-Sapp Sarah Lee Minna K. Srour Marissa K. Kim Sungjin Amersi Farin F. Giuliano Armando E. Chung Alice P. 《Annals of surgical oncology》2021,28(11):5907-5917
Annals of Surgical Oncology - Biomarker changes in patients with residual disease (RD) after neoadjuvant systemic therapy (NAT) have unclear consequences. This study examined the prevalence of... 相似文献
18.
Phenotypic variability in rippling muscle disease 总被引:3,自引:0,他引:3
OBJECTIVE: To characterize the phenotype of hereditary rippling muscle disease (RMD) and to report the results of genetic linkage studies. BACKGROUND: RMD is a rare autosomal-dominant inherited muscle disorder. Individuals complain of muscle stiffness, exercise-induced muscle pain, and cramp-like sensations. The characteristic feature of RMD is increased mechanical muscle irritability, which is electrically silent in electromyographic examinations. METHODS: Forty-six individuals from two unrelated German kindreds with RMD were examined. Linkage analysis to the RMD locus on chromosome 1q41-q43 was performed. RESULTS: In kindred A, 15 individuals from four generations, and in kindred B, four individuals from three generations had clinical features of RMD. The most consistent clinical findings were percussion-induced rapid muscle contractions (PIRCs) and muscle mounding, which were present in all 19 affected individuals. Only 12 individuals exhibited muscle rippling, indicating that rippling is not always present in RMD. Twelve of 19 individuals had muscle-related complaints, primarily exertional cramps and stiffness. The mean age at the onset of complaints was 22 years (range, 5 to 54 years). Seven of 19 individuals showed only mechanical-induced muscle irritability but did not have muscular symptoms. Genetic analysis excluded linkage to the RMD locus on chromosome 1q4 in both kindreds. CONCLUSIONS: The phenotype of RMD is variable but generalized PIRCs are the most obvious and reliable clinical feature of RMD. Diagnostic criteria of RMD should include generalized PIRCs in addition to muscle mounding, rippling, and creatine kinase elevation. 相似文献
19.
Striatal dopamine transporter density in major depression 总被引:4,自引:0,他引:4
Teijamari Laasonen-Balk Jyrki Kuikka Heimo Viinamäki Minna Husso-Saastamoinen Johannes Lehtonen Jari Tiihonen 《Psychopharmacology》1999,144(3):282-285
Rationale: There are no previous data available regarding [123I]β-CIT binding to the dopamine transporter sites in the basal ganglia in depressed patients. Objective: The present study tested the hypothesis that the brain DAT density in depressed patients is lower than that in matched healthy
controls. Methods: Fifteen drug-naive outpatients with major depression and 18 healthy controls were investigated using single photon emission
computerized tomography (SPECT) with a high-affinity dopamine transporter specific radioligand, 123I-labeled β-CIT (2β-carbomethoxy-3β-(4-iodophenyl)-tropane). Results: We found a significantly higher [123I]β-CIT uptake in both sides of the basal ganglia in patients with major depression than in the controls (Mann-Whitney U-test, P = 0.002 on the right and P = 0.003 on the left). Conclusions: The radioligand uptake reflecting the DAT density was significantly higher among the patients than in the controls. This
finding is unexpected, since it is generally believed that monoaminergic neurotransmission is lower in depression, and therefore
it could be assumed that a reduction in dopamine transmission would lead to secondary down-regulation of DAT density. However,
it is possible that up-regulation of the DAT may be the primary alteration, which leads to lower intrasynaptic dopamine concentration
and to lower dopamine neural transmission.
Received: 20 October 1998/Final version: 25 January 1999 相似文献
20.
This study analyzes the role of the midwife in prenatal care by exploring the history of the midwifery profession in Finland and by interviewing midwives. Midwifery education started in Finland in the beginning of the 19th century due to the utilitarian population policy aiming to reduce the high infant mortality rate. Because of a shortage of physicians professional midwives attained an important status in the care of births. With industrialization a state-directed welfare policy with state-subsidized health care developed. After World War II, the midwifery were legally defined as care during pregnancy, delivery, and the postpartum period. In the 1950s, the scope of work of midwifery was further altered because hospital deliveries had become routine. Some midwives provided prenatal care in ambulatory maternity health centers while others worked in hospitals managing normal childbirths. Separate midwifery education ended in 1968 and resumed 1986. Since 1972, public health nurses have increasingly provided prenatal and postnatal care in maternity centers, and specialized nurses have managed normal childbirths. In the future, public health nurses may totally replace midwives in prenatal care, and the role of midwives may return to care of normal deliveries. Midwife interviews revealed the "medicalization" of pregnancy caused both by physicians and midwives' own medical concept of pregnancy and by clients' demands for good care. 相似文献