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排序方式: 共有117条查询结果,搜索用时 93 毫秒
1.
Roberto T. Zori Brian A. Gray Angela Bent-Williams Daniel J. Driscoll Charles A. Williams Joleen L. Zackowski 《American journal of medical genetics. Part A》1993,46(4):379-383
We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation [46,X,t(X;9)(p22.1;q32)mat] inherited from a previously diagnosed mosaic translocation carrier mother [46,XX/46,X,t(X;9)(p22.1;q32)]. Replication studies on amniocytes showed the normal X chromosome to be late replicating while the same studies repeated on the infant's lymphocytes showed the translocated X chromosome to be late replicating in most cells. Late replication studies of the mother's lymphocytes demonstrated that the normal X chromosome was late replicating in most cells. The presence of Nager syndrome in this infant may be the result of critical break-points and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome. © 1993 Wiley-Liss, Inc. 相似文献
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Mary Molewyk Doornbos Gail Landheer Zandee Barbara Timmermans Jesse Moes Joleen DeGroot Megan DeMaagd-Rodriguez Julia Smit-Scholman Molly Zietse Emily Heitsch Morgan Quist 《Archives of Psychiatric Nursing》2018,32(4):524-529
Depression and anxiety are mental health issues that disproportionately affect urban, ethnically diverse, impoverished women. Using community based participatory research and in the context of long-term partnerships between a nursing department and underserved neighborhoods that are predominately Black, Hispanic, and White respectively, supportive/educative groups were offered. The study employed a quasi-experimental, nonequivalent comparison group pretest-posttest design. Seventy-two women aged 17–88?years participated. Repeated measures ANOVA indicated a significant increase in knowledge for self-care for depression and anxiety and a significant decrease in anxiety and depression symptomatology from before to after the group sessions. 相似文献
4.
Judith Drenthen Ellen M. Maathuis Gerhard H. Visser Pieter A. van Doorn Joleen H. Blok Bart C. Jacobs 《Journal of the peripheral nervous system : JPNS》2013,18(1):25-29
Typical Miller Fisher syndrome (MFS) lacks limb muscle weakness, but some patients may unpredictably progress to severe Guillain‐Barré syndrome. The compound muscle action potential (CMAP) scan is a recently developed non‐invasive, painless, and reproducible method for detecting early changes in motor nerve excitability. This technique was used to monitor subclinical limb motor nerve dysfunction during disease course in typical MFS. Three Miller Fisher patients with preserved limb muscle strength and normal routine nerve conduction studies were included. Frequent serial CMAP scanning of the median nerve was performed during acute phase and follow‐up and was related to clinical course and outcome. All patients showed an abnormal increase in the range of stimulus intensities at the day of hospital admission, indicating reduced motor nerve excitability already at the earliest stage of disease. Median nerve dysfunction progressed in parallel or even before clinical deterioration, and improved with clinical recovery. Our study shows that typical MFS is a more general neuropathy, affecting peripheral motor nerves even in patients with preserved limb strength and conduction velocity. CMAP scanning is a sensitive technique for early detection of subclinical motor nerve dysfunction and for monitoring disease activity in immune‐mediated neuropathies. 相似文献
5.
Over the past three decades, survival outcomes of high-risk stage II and stage III colon cancer have improved with the use
of adjuvant chemotherapy. Oxaliplatin and fluoropyrimidine combination regimens, given for 6 months, are the current standard
of care. However, chronic peripheral neuropathy can result as a side effect of oxaliplatin use. Investigators have questioned
whether the recommended duration of adjuvant therapy is necessary. This review discusses the history of adjuvant therapy for
colon cancer and provides a rationale for an ongoing clinical trial collaboration addressing the optimal duration of adjuvant
therapy. 相似文献
6.
Johannes P van Dijk Joleen H Blok Bernd G Lapatki Ivo N van Schaik Machiel J Zwarts Dick F Stegeman 《Clinical neurophysiology》2008,119(1):33-42
OBJECTIVE: To present a motor unit number estimation (MUNE) technique that resolves alternation by means of high-density surface EMG. METHODS: High-density surface EMG, using 120 EMG channels simultaneously, is combined with elements of the increment counting technique (ICT) and the multiple-point stimulation technique. Alternation is a major drawback in the ICT. The spatial and temporal information provided by high-density surface EMG support identification and elimination of the effects of alternation. We determined the MUNE and its reproducibility in 14 healthy subjects, using a grid of 8 x 15 small electrodes on the thenar muscles. RESULTS: Mean MUNE was 271+/-103 (retest: 290+/-109), with a coefficient of variation of 22% and an intra-class correlation of 0.88. On average, 22 motor unit potentials (MUPs) were collected per subject. The representativity of this MUP sample was quantitatively assessed using the spatiotemporal information provided by high-density recordings. CONCLUSIONS: MUNE values are relatively high, because we were able to detect many small MUPs. Reproducibility was similar to that of other MUNE techniques. SIGNIFICANCE: Our technique allows collection of a large MUP sample non-invasively by resolving alternation to a large extent and provides insight into the representativity of this sample. The large sample size is expected to increase MUNE accuracy. 相似文献
7.
Electrically evoked multiplet discharges are associated with more marked clinical deterioration in motor neuron disease 下载免费PDF全文
Boudewijn T.H.M. Sleutjes MSc PhDEng Ellen M. Maathuis MD Pieter A. van Doorn MD PhD Joleen H. Blok PhD Gerhard H. Visser MD PhD 《Muscle & nerve》2016,53(2):222-226
Introduction: The aim of this study was to determine whether electrically evoked multiplet discharges (MDs) are related to severity of clinical deterioration in motor neuron disease (MND). Methods: Stimulated high‐density surface electromyographic (HDsEMG) recordings were performed in thenar muscles. Data were collected from 31 MND patients. MDs from the HDsEMG recordings were determined at baseline. ALSFRS‐R scores were obtained at baseline and at a maximum of 16 weeks follow‐up. Results: The presence of MDs was associated with progressive deterioration of ALSFRS‐R score (P = 0.02) and fine motor function (FMF) (P < 0.001). Patients who had a higher number of motor units that generated MDs (r = 0.61, P < 0.001) and patients who had a higher number of MDs (as percentage of applied stimuli) (r = 0.59, P = 0.001) had a more severe decline in FMF. Conclusions: Electrically evoked MDs are associated with more marked clinical deterioration in patients with MND. Muscle Nerve 53: 222–226, 2016 相似文献
8.
de Kool BS Blok JH Walbeehm ET van Neck JW Hovius SE Visser GH 《Journal of neuroscience methods》2008,174(2):265-271
For early assessment of axonal outgrowth after trauma, the nerve is surgically exposed to enable compound nerve action potential (CNAP) recordings across the lesion site. Near-nerve neurography, with needle electrodes placed transcutaneously near the nerve, could be a minimally invasive alternative if the needle placement procedure and low reproducibility are improved. We developed ultrasound-guided near-nerve neurography, which facilitates needle placement, and assessed its potential for evaluating nerve regeneration. Measurements were performed at varying times after crush lesion of the peroneal nerve of 25 rabbits. To test if ultrasound-guided near-nerve signals could be measured prior to muscle reinnervation, they were compared with recordings of compound muscle action potentials. A comparison with conventional intra-operative CNAP recordings was made by measuring nerve signal amplitude with both techniques and by assessing reproducibility. In all cases where intra-operative signals could be measured, near-nerve signals were also detected. Compound nerve activity could be recorded after 5 weeks, whereas compound muscle activity appeared after approximately 8 weeks. Reproducibility was slightly better for near-nerve than for intra-operative recordings. We conclude that ultrasound-guided near-nerve neurography is able to assess nerve regeneration well before compound muscle activity can be detected. Its accuracy and reproducibility are similar to those of conventional intra-operative recordings. 相似文献
9.
Zuijdendorp HM Smit X Blok JH Caruelle JP Barritault D Hovius SE van Neck JW 《Journal of neurosurgery》2008,109(5):967-973
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