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《Clinical neurophysiology》2019,130(12):2231-2237
ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised. 相似文献
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目的 通过观察早产儿不同胎龄Toll样受体9(TLR9)的表达,探讨早产儿免疫功能低下的机制。方法 采集2010年7月至2014年6月在上海市嘉定区妇幼保健院产科出生的活产新生儿的脐血229份,按胎龄分为4组,28~31周组,31~34周组,34~37周组,≥37周组,采用流式细胞术和实时荧光定量PCR方法,分别检测其TLR9的蛋白和mRNA表达情况,了解其与胎龄之间的关系,并分析mRNA和蛋白表达间的相关性。结果 TLR9阳性细胞率在28~31周组,31~34周组,34~37周组,≥37周组分别为(15.93±6.23)%,(11.63±6.70)%,(13.66±6.88)%,(20.51±12.06)%;其在胎龄28~31周较高,至31~34周逐渐下降至最低,两组差异有统计学意义(P<0.05);34~37周后TLR9阳性细胞率表达逐渐升高,至≥37周达最高,两胎龄组比较,差异具有统计学意义(P<0.05)。31~37周间新生儿脐血TLR9阳性细胞率与胎龄呈正相关(r=0.273,P=0.006)。TLR9 mRNA表达在28~31周组,31~34周组,34~37周组,≥37周组分别为(4.95±3.44)%,(8.89±8.49)%,(13.91±10.92)%,(7.19±7.11)%;其在28~36周逐渐升高,与胎龄呈正相关(r=0.355,P< 0.001)。≥37周TLR9 mRNA表达量下降,该值虽高于28~31周,但差异无统计学意义(P>0.05)。相关性分析表明,同胎龄时期同样本新生儿的TLR9 mRNA和TLR9阳性细胞率之间存在负相关(r=-0.227,P=0.011)。结论 TLR9阳性细胞率和TLR9 mRNA表达在不同胎龄组新生儿间有差异,TLR9阳性细胞率表达在31~37周间随着胎龄的增加而增加,TLR9 mRNA在28~36周间随着胎龄的增加而增加。 相似文献
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J. M. Troyano M. T. Clavijo A. Gonzalez-Lorenzo I. Martí nez-Wallin O. Y. Marco P. S. Casas L. Martí nez-Cort s L. T. Merc J. Bajo-Arenas N. Hernandez D. Castro 《The Ultrasound Review of Obstetrics & Gynecology》2006,6(1):79-99
In order to assess the state and pathology of the woman's pelvis minor, a number of methods are commonly used among practitioners, encompassing clinical exploration, radiology, MRN, urodynamics, endoscopy and echography.
Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.
At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.
A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2. 相似文献
Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.
At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.
A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2. 相似文献
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回盲部恶性肿瘤的诊治 总被引:1,自引:0,他引:1
目的:分析回盲部恶性肿瘤的诊断和治疗过程,总结经验.以期提高早期确诊率和患者生存率。方法:回顾性分析近5年53例住院治疗的回盲部恶性肿瘤患者的临床资料。结果:53例患者中腺癌、黏液腺癌50例,恶性淋巴瘤3例。首次确诊率为75.5%。误诊或延迟诊断的疾病主要为阑尾炎、阑尾脓肿,胆囊炎、胆石症、下消化道出血、贫血待查等。结论:60岁以上的老年患者为回盲部恶性肿瘤的主要人群,肿瘤类型主要为腺癌。尽管首发症状缺乏特异性,但提高警觉性,详细询问病史,通过大便隐血试验、钡灌肠或气钡双重造影、纤维结肠镜检查仍能有效的提高首次确诊率,积极手术冶疗,可显著改善患者的预后。 相似文献
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胸腰椎压缩性骨折的护理要点 总被引:2,自引:0,他引:2
胸腰椎压缩性骨折的护理要点福建漳州市中医院(363000)郭燕玲,陈联源我院自1989年来对胸腰椎压缩性骨折实行辨证护理,收到满意效果,介绍如下。常规护理:屈曲型胸腰椎压缩性骨折,令病人仰卧在硬板床上,骨折处垫一软枕头,在耐受的情况下逐渐增加枕头高度... 相似文献
8.
Dr. Adil Kabeer M.B.B.Ch. Sigurdur Gunnlaugsson M.D. Charles Coren M.D. 《Diseases of the colon and rectum》1995,38(8):866-872
PURPOSE: A retrospective, 12-year review of neonatal necrotizing enterocolitis was undertaken at a county hospital, with emphasis on presentation signs and symptoms. METHODS: Eighty-two patients with presence of intramural air were included in the study. The following signs and symptoms were studied: evidence of respiratory distress, use of umbilical catheters, white blood cell count and temperature at presentation, time interval from birth to diagnosis and time interval from diagnosis to operative intervention, presence of intramural air, air in biliary tree or free air, changes in abdominal girth, and presence of occult or gross blood in stools. Comparison was done among infants who had surgical or medical treatment, premature and full-term infants, and infants who had neonatal necrotizing enterocolitis less than or more than 20 days after birth. RESULTS: Eleven patients had a fatal outcome, with an overall survival of 87 percent. Sixty-four patients were treated medically and 18 had operative treatment. Mortality of the surgically treated group was 44 percent. Neonates who had surgical intervention had a left shift of the white blood cell count more commonly present, and all had documented abdominal distention. There were 62 premature and 20 full-term neonates in the group. Full-term neonates developed neonatal necrotizing enterocolitis earlier after birth (5.3 days compared with 15.3 days in the premature neonate group). Full-term neonates had a better prognosis in our series. Presentation of symptoms more than 20 days after birth did not change outcome. CONCLUSION: Our results reflect the experience of a community-based hospital. Clinical acumen remains the cornerstone of diagnosis and management. 相似文献
9.
为了探讨腰神经通道狭窄的病因,我们对224例腰椎间盘突出及腰椎管狭窄症患者进行了腰神经通道探查手术,结果发现其病因以腰部组织变性为主。除外伤及反复慢性腰部损伤引起腰部病变外,活动少,或很少进行腰部锻炼,体形肥胖也是引起腰神经通道狭窄日趋加重的致病因素。在治疗时强调不只满足于切除突出的椎间盘,应沿神经通道探查,清除一切卡压神经根的病变组织才能获得较好的治疗效果。我们随访197例,平均随访3a,优良率935%。 相似文献
10.
The normally expressed κ immunoglobulin light chain gene repertoire and somatic mutations studied by single-sided specific polymerase chain reaction (PCR); frequent occurrence of features often assigned to autoimmunity 下载免费PDF全文
L JUUL L HOUGS V ANDERSEN A SVEJGAARD T BARINGTON 《Clinical and experimental immunology》1997,109(1):194-203
The expressed human κ light chain gene repertoire utilized by healthy individuals was studied by two different single-sided specific PCR techniques to avoid bias for certain V genes. A total of 103 rearranged κ sequences from peripheral blood mononuclear cells from healthy individuals were cloned from cDNA and assigned to the Vκ and Jκ germ-line genes with the closest overall homology. The use of cDNA rather than genomic DNA focused the analysis on activated B cells rich in mRNA. Accordingly, the sequences represented the applied repertoire and almost all were somatically mutated. V genes from the Jκ-proximal duplication unit of the κ locus were almost exclusively used. A total of 65% of the sequences could be assigned to four or five genes: A27 (humkv325), L6 (Vg), L2 (humkv328), and A3 and/or A19. N additions and P nucleotides were quite common and found in 32% and 21% of the sequences, respectively. Extended CDR3s more than nine residues in length were found in 18% of the sequences, and in 71% of cases this was due to insertion of an extra proline residue. This proline was usually explained from the germ-line sequences involved. These results are in good agreement with those of previous repertoire studies using potentially V-gene-biased techniques. Thus, it is clear that restricted V-gene usage, common N and P additions, and extended CDR3 regions are normal features and not, as has been claimed, characteristics of pathological autoantibodies. 相似文献