双克氏针内固定治疗指伸肌腱止点撕脱骨折

目的 探讨伴有远节指骨基底背侧撕脱性骨折的指伸肌腱止点损伤的治疗方法.方法 收治伴有远节指骨基底背侧撕脱性骨折的指伸肌腱止点损伤患者24例,其中开放伤性损伤3例,闭合性损伤21例,最大骨折块波及大于1/3关节面.在C臂机直视下,采用双克氏针内固定骨折块和远指间关节.术后4周后拔出克氏针,用指套固定6周,对远指间关节的屈伸活动范围及X线片表现进行评价.结果 术后随访时间6～ 12个月,锤状指畸形消失,术后均无疼痛及感觉障碍;X线正侧位片示撕脱骨折块均已解剖复位并愈合.采用Dargan功能评定:优17例,良6例,可1例.结论 双克氏针内固定法治疗合并骨折的指伸肌腱止点损伤效果满意.     

Sheets glide-assisted versus Busin glide-assisted insertion techniques for descemet stripping endothelial keratoplasty (DSEK): A comparative analysis

BackgroundThe donor lenticule insertion techniques play a crucial role in outcomes following descemet stripping endothelial keratoplasty (DSEK) and the current study is aimed to compare two of the commonly performed donor lenticule insertion techniques in DSEK.MethodDescemet stripping endothelial keratoplasty was performed in 48 eyes of 48 patients at two tertiary eye care centers from January 2014 to December 2016. At one center (Group 1), 26 patients had Sheets glide-assisted lenticule insertion whereas at other center (Group 2), 22 patients had Busin glide-assisted insertion of donor lenticule. Best corrected visual acuity (BCVA), manifest spherical equivalent, manifest cylinder, endothelial cell density (ECD) and percentage of endothelial cell loss (ECL) were compared between the two groups at 6 months after DSEK. In addition, intraopertaive and postoperative complications were also compared.ResultsAt 6 months after DSEK, an insignificant difference was observed in BCVA [Group 1: 0.48 logarithm of the minimum angle of resolution (log MAR); Group 2: 0.50 log MAR (p = 0.74)], mean manifest spherical equivalent [Group 1: 0.64 diopter (D); Group 2: 0.59 D (p = 0.74)], mean manifest cylinder [Group 1: 1.35 D; Group 2: 1.32 D (p = 0.92)] and mean ECL [Group 1: 26.75%; Group 2: 28.76 (p = 0.44)] between the two groups. In addition, the rate of complications is similar between the two groups.ConclusionsBoth Sheets glide-assisted and Busin glide-assisted donor lenticule insertion techniques are associated with similar surgical outcomes after DSEK.     

纤维宫腔镜直视下输卵管插管诊断和治疗输卵管梗阻

目的:评价纤维宫腔镜直视下输卵管插管诊断和治疗输卵管梗阻的临床治疗效果。方法:选择经输卵管通液、碘油造影诊断为输卵管因素不孕的患者135例,对其进行纤维宫腔镜直视下输卵管插管通液,确诊是否有输卵管梗阻;对真性梗阻的输卵管在宫腔镜下直接行导丝疏通术,比较插管通液前后以及插管疏通术治疗前后输卵管的通畅情况。结果:135例不孕症患者261条输卵管,经插管确诊梗阻输卵管57条,治疗成功率为73.3%。结论:纤维宫腔镜直视下输卵管插管通液及疏通术,是诊断和治疗输卵管梗阻的一种安全、有效、简便的方法。     

Local antibiotics: panacea for long term skeletal traction

Long periods of skeletal traction are frequently needed in busy tertiary centres due to long waiting lists for surgery. A frequent complication is pin track infection, which leads to revision of pin insertion or switching over to skin traction. A prospective study was conducted on sixty patients with upper tibial pin insertion for various causes. Antibiotic (injection Cephazolin 0.5 g after sensitivity testing--250 mg on each side) was injected on thirty patients at the site of pin insertion and no antibiotic was injected in 30 controls. Only one stage one pin track infection was seen in the study group (3% cases), where as six cases had stage 1 infection, one case had stage 2 infection and two cases had stage 3 infections in the control group (30% cases). This study showed the usefulness of this modification in preventing morbidity in patients who are planned for long-term skeletal traction by temporarily suppressing the local flora.     

成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床分析

目的：探讨成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床特点和诊治方案.方法结合文献,回顾性分析2009年5月至2015年6月我院收治的8例经病理检查确诊为Xp11．2易位/TFE3基因融合相关性肾癌成人患者的临床资料.结果8例患者结合组织病理学和免疫组化结果得以确诊,均行手术治疗,3例辅助靶向治疗,术后随访3~69个月,5例无瘤存活,3例复发死亡.结论 Xp11．2易位/TFE3基因融合相关性肾癌是一种罕见的肾癌亚型,成年患者预后欠佳,早期诊断、积极治疗、密切随访能有效改善预后.     

Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

We report on a 30-year-old man with azoospermia, primary hypogonadism and minor dysmorphic features who carried a balanced insertional chromosome translocation inv ins (2p24;4q28.3q31.22) de novo . Molecular cytogenetic analyses of the chromosome breakpoints revealed the localization of the breakpoint in 4q28.3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7 . On chromosome 2, BACs RP11-531P14 and RP11-360O18 flank the breakpoint in 2p24, a region void of known genes. In conclusion, the chromosome aberration of this patient suggests a gene locus for primary hypogonadism in 2p24, 4q28.3 or 4q31.2, and three possible candidate genes ( LSM6 , SLC10A7 and PCDH10 ) were identified by breakpoint analyses.     

Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature

Somatic chromosomal abnormalities are frequently found in infertile men, particularly in those with low sperm count and/or seeking intracytoplasmic sperm injection. These abnormalities mostly consist of numerical sex chromosome abnormalities and translocations (Robertsonian or reciprocal). In this study, we searched for the occurrence of non-disjunction of chromosomes not involved in translocations during meiosis, phenomenon called interchromosomal effect (ICE) and first described by Lejeune (1965). Ejaculate samples of two patients carrying a Robertsonian translocation and four a reciprocal translocation patients and four controls (men with a 46,XY karyotype and normal sperm parameters) were studied in dual FISH 7-9, dual FISH 13-21 and triple FISH X-Y-18. A statistically significant increase of disomy X, Y and XY (P = 0.009, P = 0.004, P < 0.001) was found in the Robertsonian der(13;14)(q10;q10) carrier but not in the der(14;21)(q10;q10) carrier compared with controls. Among reciprocal translocation carriers, a significant increase of disomy 21 (P = 0.033) was observed in a sole patient with a t(9;22)(q21;q11.2). The increase of meiotic non-disjunction for chromosome 21 and sex chromosomes is a recurrent event found in other studies. According to our results and published data, the ICE on some specific chromosomes is likely in men carrier of a translocation, although it cannot be excluded that the aneuploidy is related to the oligoasthenoteratozoospermia usually present in these men. Moreover, this phenomenon showed interindividual variations which cannot be predicted. The risk of aneuploidy in sperm of males used for ICSI need to be evaluated. It could be superadded to that of meiotic segregation of the translocation to give a more precise and personalized risk assessment of aneuploidy in the offspring of those men.     

18,X,Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy （TEM） analysis. Conventional lymphocyte karyotype analyses highlighted dif- ferent reciprocal balanced translocations： t（12; 13）, t（4;9）, t（X;8）, t（8; 10） and t（3; 16）. Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the present study showed a very similar pattern of sperm pathologies： diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chromosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t（X;8） and t（8;10） carriers. We have also reported values from sex chromosomes such as t（X;8）, although the X chromosome was involved in translocation. Since patients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm injection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the effects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.     

An aggressive course of Xp11 translocation renal cell carcinoma in a 28-year-old man

Abstract:   Cases of renal cell carcinoma (RCC) associated with Xp11 translocations are rare and are reported predominantly in children. We report a case of a young man who developed an aggressive Xp11 translocation RCC. A 28-year-old man presented with back pain, fever and macroscopic hematuria. Computed tomography of the abdomen showed a heterogeneous mass in the left kidney. Left radical nephrectomy was performed. Hematoxylin–eosin staining revealed nested and papillary architecture, clear and eosinophilic cytoplasm and vesicles with prominent nucleoli. Immunohistochemical evaluation revealed that the tumor cells showed nuclear labeling for TFE3 protein. On the basis of these findings, the case was diagnosed as Xp11 translocation RCC. This tumor massively recurred and led to the patient's death 2 years after the initial diagnosis. The utility of immunohistochemistry using antibodies against TFE3 in RCC occurring in young adults may be necessary for accurate diagnosis.     

The effect of growth architecture on the induction and decay of bleomycin and X-ray-induced bystander response and genomic instability in lung adenocarcinoma cells and blood lymphocytes

Abstract

Purpose: Cancer patients treated with radiomimetic drug bleomycin (BLM) have shown incidence of 7% second malignancy. Studies regarding BLM-induced genomic instability in bystander cells are scarce, and experiments with cells grown on three-dimensional (3D) cultures to mimic the in-vivo condition have never been attempted.

Materials and methods: A549 and NCI-H23 (human lung adenocarcinoma) cells were grown as 3D cultures using Cytomatrix^?, exposed to BLM or X-radiation and co-cultured with their respective unexposed cells. The DNA damage in direct and bystander cells were assessed by the induction of micronuclei (MN) or phosphorylated serine-15 residue in protein 53 (p53^ser-15), a reflection of DNA damage, and by up-regulation of protein 21 (p21Waf1). The persistence of DNA damage was measured using MN assay and fluorescence in situ hybridization (FISH) in cancer cells and human peripheral blood lymphocytes (PBL) respectively.

Results: BLM or X-irradiation induced DNA damage in both A549 and NCI-H23 cells and their respective bystander cells grown in 2D or 3D cultures. Further persistence of these damages in bystander PBL at delayed times indicated genomic instability in these cells.

Conclusion: BLM-induced genomic instability in the progeny of bystander cells and their significance in therapy-induced second malignancy may not be eliminated completely.