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21.
Benjamin Bouyer Manon Bachy Redoine Zahi Camille Thévenin-Lemoine Pierre Mary Raphaël Vialle 《European spine journal》2014,23(1):163-171
Background
We present the results of a prospective series of 60 patients treated for neuromuscular spinal deformities with an original spinopelvic construct using two sacral screws and two iliac screws. Clinical and radiological results obtained with this new surgical technique were studied and discussed according to the epidemiological data and relevant literature.Methods
From January 2008 to June 2010, the clinical data of every patient who underwent spinopelvic fixation for treatment of a neuromuscular spinal deformity were recorded prospectively.Results
Sixty patients were operated on during the study period. Spinal correction and fusion was performed by posterior approach. In six patients with a residual spinopelvic imbalance more than 15° on lateral preoperative bending films, an anterior release of the thoracolumbar junction was performed on the same day, before posterior correction. Preoperative pelvic obliquity (PO) ranged from 4° to 44° (mean 21.6°). Postoperative pelvic obliquity ranged from 0° to 14 (mean 4.6°). No significant loss of correction was noted at the last follow-up. One patient died 3 months after the initial procedure due to respiratory compromise. 11 patients had early postoperative infections of the posterior approach.Conclusions
Despite a high rate of infectious complications, optimal correction of pelvic obliquity requires extension of spinal instrumentation to the pelvis. Spinopelvic fixation remains a difficult challenge in neurological patients with hypotrophy. We think that pelvic fixation with the “T construct” did provide effective and improved spinal stabilization in these patients, while reducing the need for a postoperative cast or brace. As a result, patients had a favourable postoperative course with early mobilization and return to a comfortable sitting position. 相似文献22.
John C. K. Barber I. Karen Temple Paul L. Campbell Morag N. Collinson Carolyn M. Campbell Richard M. Renshaw Nichola R. Dennis 《American journal of medical genetics. Part A》1996,62(1):84-90
We present two families with different distal long arm 5;10 translocations. In one family the propositus and his mother inherited the same derived chromosome 10 from the maternal grandfather who has a balanced t(5;10)(q35.3;q26.13). The phenotype of both the affected patients is milder and only partially overlaps with that of previous cases of distal 10q deletion. Other previously reported cases of transmitted imbalance are also remarkable for mild phenotype, occurrence of deletions rather than duplications and a strong bias toward maternal as opposed to paternal transmission. In the second family, the propositus inherited a derived chromosome 10 from his mother who carries a balanced t(5;10)(q35.1;q26.3) translocation; his clinical manifestations are consistent with an emerging phenotype for distal 5q duplications. © 1996 Wiley-Liss, Inc. 相似文献
23.
Tian Hong Zhang Xiao Chen Tang Li Hua Xu Yan Yan Wei Ye Gang Hu Hui Ru Cui Ying Ying Tang Tao Chen Chun Bo Li Lin Lin Zhou Ji Jun Wang 《Schizophrenia bulletin》2022,48(1):154
ObjectivesPatients with psychiatric disorders have an increased risk of cardiovascular pathologies. A bidirectional feedback model between the brain and heart exists widely in both psychotic and nonpsychotic disorders. The aim of this study was to compare heart rate variability (HRV) and pulse wave velocity (PWV) functions between patients with psychotic and nonpsychotic disorders and to investigate whether subgroups defined by HRV and PWV features improve the transdiagnostic psychopathology of psychiatric classification.MethodsIn total, 3448 consecutive patients who visited psychiatric or psychological health services with psychotic (N = 1839) and nonpsychotic disorders (N = 1609) and were drug-free for at least 2 weeks were selected. HRV and PWV indicators were measured via finger photoplethysmography during a 5-minute period of rest. Canonical variates were generated through HRV and PWV indicators by canonical correlation analysis (CCA).ResultsAll HRV indicators but none of the PWV indicators were significantly reduced in the psychotic group relative to those in the nonpsychotic group. After adjusting for age, gender, and body mass index, many indices of HRV were significantly reduced in the psychotic group compared with those in the nonpsychotic group. CCA analysis revealed 2 subgroups defined by distinct and relatively homogeneous patterns along HRV and PWV dimensions and comprising 19.0% (subgroup 1, n = 655) and 80.9% (subgroup 2, n = 2781) of the sample, each with distinctive features of HRV and PWV functions.ConclusionsHRV functions are significantly impaired among psychiatric patients, especially in those with psychosis. Our results highlight important subgroups of psychiatric patients that have distinct features of HRV and PWV which transcend current diagnostic boundaries. 相似文献
24.
25.
目的 探讨类风湿关节炎(RA)合并肺间质疾病(ILD)患者调节性T细胞(Treg细胞)/辅助性T细胞(Th17细胞)免疫失衡与肠道菌群变化的关系。方法 选取2021年6月-2022年6月于石家庄市人民医院收治的RA患者100例为研究对象,纳入RA组。根据临床症状、X射线及胸部HRCT检查评估结果,将RA组分为RA-ILD组39例和NO-ILD组61例。收集两组患者基线资料;检测Treg/Th17细胞及相关因子;对粪便DNA样本16S rRNA V3-V4区域进行生物信息学分析;使用Spearman相关性分析检验RA-ILD患者肠道菌群丰度与Treg/Th17相关性。结果 与NO-ILD组相比,RA-ILD组的Shannon指数、Observed_species指数及Chao1指数均明显较低,类杆菌属(Bacteroides)、嗜血杆菌属(Haemophilus)、梭状芽孢杆菌属(Acuformics-Prevot)、厚壁菌门(Firmicutes)、真杆菌属(Eubacterium)、乳杆菌属(Lactobacillus)、韦荣球菌属(Veilonella)相对丰度均明显较低,拟杆菌门(Bacteridetes)、变形菌门(Proteobactena)、戈登菌属(Ciordonaspp)、放线菌门(Actinobacteri)、普雷沃菌属(Prerotella)相对丰度均明显较高,Treg细胞比例及Treg/Th17明显较低,IL-23、IL-17水平及Th17细胞比例明显较高,差异均有统计学意义(〖WTBX〗P〖WTBZ〗<0.05)。Treg/Th17与类杆菌属、嗜血杆菌属、韦荣球菌属、真杆菌属、厚壁菌门、乳杆菌属的相对丰度呈明显正相关(均P<0.05),与普雷沃菌属、变形菌门、梭状芽胞杆菌属、放线菌门、戈登菌属、拟杆菌门呈明显负相关(均P<0.05)。结论 RA合并ILD患者存在Treg/Th17细胞比例失衡,而肠道菌群失衡可能是其失衡的主要原因 相似文献
26.
Ellsworth DL Ellsworth RE Love B Deyarmin B Lubert SM Mittal V Hooke JA Shriver CD 《Annals of surgical oncology》2004,11(9):861-868
Background: Theory holds that the upper outer quadrant of the breast develops more malignancies because of increased tissue volume. This study evaluated genomic patterns of loss of heterozygosity (LOH) and allelic imbalance (AI) in non-neoplastic tissues from quadrants of diseased breasts following mastectomy to characterize relationships between genomic instability and the propensity for tumor development.Methods: Tissues from breast quadrants were collected from 21 patients with various stages of breast carcinoma. DNA was isolated from non-neoplastic tissues using standard methods and 26 chromosomal regions commonly deleted in breast cancer were examined to assess genomic instability.Results: Genomic instability was observed in breast quadrants from patients with ductal carcinomas in situ and advanced carcinomas. Levels of instability by quadrant were not predictive of primary tumor location (P = .363), but outer quadrants demonstrated significantly higher levels of genomic instability than did inner quadrants (P = .017). Marker D8S511 on chromosome 8p22– 21.3, one of the most frequently altered chromosomal regions in breast cancer, showed a significantly higher level of instability (P = .039) in outer compared with inner quadrants.Conclusions: Non-neoplastic breast tissues often harbor genetic changes that can be important to understanding the local breast environment within which cancer develops. Greater genomic instability in outer quadrants can partially explain the propensity for breast cancers to develop there, rather than simple volume-related concepts. Patterns of field cancerization in the breast appear to be complex and are not a simple function of distance from a developing tumor. 相似文献
27.
Val��rie Malan Suzanne Chevallier Gwendoline Soler Christine Coubes Didier Lacombe Laurent Pasquier Jean Soulier Nicole Morichon-Delvallez Catherine Turleau Arnold Munnich Serge Romana Michel Vekemans Val��rie Cormier-Daire Laurence Colleaux 《European journal of human genetics : EJHG》2010,18(2):227-232
Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.33), del(22)(q13) and del(5)(q35) have been identified in patients with overgrowth. Most of them, however, remain undetectable using banding karyotype analysis. In this study, we report on the analysis using a 1-Mb resolution array-based comparative genomic hybridization (CGH) of 93 patients with either a recognizable overgrowth condition (ie, Sotos syndrome or Weaver syndrome) or an unclassified overgrowth syndrome. Five clinically relevant imbalances (three duplications and two deletions) were identified and the pathogenicity of two additional anomalies (one duplication and one deletion) is discussed. Altered segments ranged in size from 0.32 to 18.2 Mb, and no recurrent abnormality was identified. These results show that array-CGH provides a high diagnostic yield in patients with overgrowth syndromes and point to novel chromosomal regions associated with these conditions. Although chromosomal deletions are usually associated with growth retardation, we found that the majority of the imbalances detected in our patients are duplications. Besides their importance for diagnosis and genetic counseling, our results may allow to delineate new contiguous gene syndromes associated with overgrowth, pointing to new genes, the deregulation of which may be responsible for growth defect. 相似文献
28.
High intra-population genetic diversity and multiple measures of genetic variability at STR loci are useful in inferring past evolutionary history. However, STRs, categorized by their repeat motif size, differ in a number of aspects, requiring separate analyses. We analyzed 783 STRs in 36 worldwide populations to examine marker suitability as well as correlations between various measurements, to evaluate the extent of genomic diversity present in modern human populations. The loci were grouped by type and analyzed separately for each population group. Genetic variation defined by gene diversity and allele size variance, shows different trends of variation across four types of STRs. Additionally, there is little variation of genetic diversity, but there is decreased allelic size variance with increasing repeat motifs. A poor correlation between genetic diversity and allelic size variance across loci in all groups for Di-STRs is probably caused by the presence of allelic size gaps. In contrast, allelic size variance, genetic diversity, and number of alleles are strongly correlated with both tri- and tetra-STRs. The positive correlation of allelic size variance and presence of gaps within the range of allelic sizes in Di-STRs alone explains these observations. An unexpected high imbalance index (β) at Di-STRs due to high allelic size variance also supports this assertion. 相似文献
29.
目的:研究儿童鞍区肿瘤术后血钠紊乱的发病机制、变化规律及其治疗措施。方法:对1997年4月至2002年10月间269例鞍区肿瘤术后并发血钠紊乱的患儿进行回顾性研究。记录手术当日及术后每日定时检测的血钠值及其相应的治疗措施。结果:450例儿童鞍区肿瘤患儿术后269例出现血钠紊乱。其中72.5%(195/269)出现于手术当日和术后第1d。83.3%(224/269)患儿于出现血钠紊乱后10d内恢复正常,第7d左右出现一个恢复的高峰期。根据血钠紊乱的临床经过可分为三种类型:①暂时型:一般于7~10d之内血钠恢复正常;②三相型:血钠紊乱持续一段时间后出现1-3d的正常期,然后又出现血钠紊乱;③持续型:血钠紊乱持续10d以上。结论:儿童鞍区肿瘤术后血钠紊乱变化有一定规律性。掌握其变化规律及原因可及时有效地纠正血钠,缩短儿童鞍区肿瘤术后血钠紊乱的病理经过。 相似文献
30.