CDK12 and HER2 coamplification in two urothelial carcinomas with rapid and aggressive clinical progression

Cyclin‐dependent kinase 12 (CDK12), one of the key factors associated with DNA damage response pathways, is located on chromosome 17 proximal to Erb‐B2 receptor tyrosine kinase 2 (ERBB2). In this report, CDK12 and ERBB2 coamplification was detected by targeted next‐generation sequencing in two urothelial carcinomas. The staining intensity of the CDK12 and human epidermal growth factor receptor‐2 proteins was associated with the prognosis of each urothelial carcinoma case. Our results suggest that CDK12 coamplification with ERBB2 might be associated with tumor aggressiveness and contribution to cancer pathogenesis. Therapies targeting CDK12 should be developed for these patients.     

髋关节镜下盂唇修补术治疗髋臼盂唇损伤的疗效评价

目的:探讨髋关节镜下盂唇修补术治疗髋臼盂唇损伤的临床疗效。方法:选择2018年11月至2019年5月在广东省中医院诊断为髋臼盂唇损伤并在髋关节镜下行盂唇修复术的患者,所有患者术前术后采用X线片、三维CT和核磁共振等检查,选择改良Harris髋关节评分(mHHS)、体育运动专用髋关节评分(HOS-SSS)、日常活动的髋关节功能评分(HOS-ADL)和VAS疼痛评分,评定患者的临床疗效。结果:共纳入患者30例,其中男10例,女20例,年龄(37.8±10.6)岁(17~55岁)。所有患者均获随访,随访时间为6~12个月,平均8.2个月。患者术前H0S-ADL,HOS-SSS,mHHs评分分别为53.8±10.6,44.2±9.6,62.2±11.6;术后6个月时分别为77.6±10.2,72.8±7.3,79.3±9.1,均较术前显著提高(P<0.01);术前VAS评分为6.5±2.3,术后6个月时为2.6±1.3,较术前显著降低,差异有统计学意义(P<0.01)。结论:髋关节镜下盂唇修补术治疗髋臼盂唇损伤,能缓解症状,其近期临床疗效良好。     

Genetic syndromes predisposing to paediatric brain tumours: the chicken or the egg?

Cancer in childhood is a disorder of growth and development. Up to 10% of patients diagnosed with cancer during childhood have a known underlying genetic predisposition syndrome. Affected individuals usually have multisystem involvement from the underlying syndrome and certain syndromes are associated with development of characteristic tumours with sites of predilection within the neuraxis. For the healthcare professionals involved with paediatric patients it is important to have basic knowledge of the cancer susceptibility syndromes. A holistic multidisciplinary approach is required for the overall management of the syndrome itself with specific recommendations for imaging surveillance and genetic counselling based on the pattern of inheritance and the relative risk of developing a tumour. Appropriate knowledge of these syndromes will help paediatricians manage and refer patients at risk to specialist neuro-oncology centres. A typical brain tumour diagnosis can also indicate certain underlying genetic disorders and examples of such tumours include optic pathway glioma, choroid plexus carcinoma and subependymal giant cell astrocytoma. A detailed family history can be helpful in identifying at risk patients and families as the typical clinical signs associated with the genetic condition are often not fully apparent in young children. This article focuses on well-known genetic diagnoses associated with or predisposing to childhood brain tumours. In some instances, the brain tumour diagnosis subsequently leads to the diagnosis of an underlying genetic syndrome.     

Z形皮瓣及推进皮瓣修复眼睑缺损的作用探讨

目的探讨眼睑恶性肿瘤切除术中应用Z形皮瓣及推进皮瓣I期修复眼睑缺损的临床效果。方法将50例眼睑恶性肿瘤切除术患者按不同缝合方法分为两组,即对照组25例,术中直接缝合;观察组25例,术中行Z形皮瓣及推进皮瓣I期修复;比较两组眼睑修复效果。结果观察组术后皮瓣成活率96.0%、切口Ⅰ期愈合率100%、修复满意率92.0%,均高于对照组的72.0%、68.0%、56.0%,差异有统计学意义(P<0.05)。观察组术后并发症发生率低于对照组,但差异无统计学意义(P>0.05)。结论眼睑恶性肿瘤切除术中眼睑缺损修复时,采用Z形皮瓣及推进皮瓣,眼睑修复良好,患者修复满意率高,值得推广应用。     

A study for evaluating the effect of the deltoid-flap repair in massive rotator cuff defects

The repair of massive cuff defects by direct suture often is impossible. In these cases, a repair by musculo–tendineous flaps (latissimus-dorsi, pectoralis or deltoideus) is required. It was the goal of this study to evaluate the result of delta-flap repair in case of massive cuff defects with a diameter of 5 cm or more. Between 1998 and 2000 for all patients who were suffering from a massive rotator cuff tear more than 5 cm a deltoid transfer was performed. A total of 20 patients (14 male, 6 female; age: 60.9 ± 8.7 years) were available for a follow-up after 47.2 ± 8.0 (range, 36 to 60) month. The operation included an arthroscopic evaluation, acromioplasty with resection of the lateral clavicular end, and biceps tenodesis. The cuff defect was repaired by transfer a muscular flap from the anterior part of the deltoid (about 2×6 cm) into the defect. The patients subjectively rated their result—10 excellent, 9 good, and 1 poor. Preoperatively, the Constant amounted 26.3 ± 5.1 points. At follow-up, the score significantly increased to 74.5 ± 8.5 points. The acromiohumeral distance increased from 4.9 ± 1.1 to 9.2 ± 1.7 mm. In MRI examination of 11 patients all had an intact flap. Two complications (a wound hematoma and a deep infection) did not influence the result. The repair of massive rotator cuff tears by a deltoid transfer produces acceptable clinical and radiological results.     

急诊显微修复15例手部皮肤逆行撕脱伤

目的报道采用显微外科修复方法急诊处理手部皮肤逆行撕脱伤。方法2003年9月--2006年7月,我们应用显微外科吻合技术及其相关方法处理15例手部皮肤逆行撕脱伤。结果15例全部成活,术后3～28个月随访,外形与感觉等功能恢复较为满意。结论采用显微外科修复方法处理手部皮肤逆行撕脱伤,可最大限度的恢复手部功能和外形,是目前较为理想的治疗方法。     

骨髓间充质干细胞分化为皮肤附属器细胞的初步实验研究

目的探讨骨髓间充质干细胞(marrowmesenchymalstemcells,MSCs)分化为创面皮肤附属器细胞的可能性,及其参与创面修复的可能机制。方法无菌条件下取Wistar大鼠股骨骨髓细胞,密度梯度离心分离、纯化MSCs,体外培养扩增后,用BrdU标记细胞。另于同种雄性Wistar大鼠背部正中,制备1cm×1cm全厚皮肤缺损创面模型,将BrdU标记的1×106/mlMSCs从阴茎静脉输注,术后第3天与第7天切取创面组织,行BrdU免疫组织化学单染色,以及BrdU和广谱角蛋白免疫组织化学双染色。结果BrdU阳性细胞出现在创面皮下组织、皮脂腺、毛囊和骨髓腔中。免疫组织化学双染色结果显示,皮脂腺和毛囊有BrdU阳性细胞,同时表达广谱角蛋白。结论创面愈合过程中,MSCs归巢并参与创面修复;在实验性全身皮肤缺损创面微环境下,MSCs可分化为皮肤附属器细胞。     

骨外露及皮肤软组织缺损的修复

目的　评价和探讨修复骨外露及皮肤软组织缺损的各种方法 ,使其更好地用于临床。方法　 3 5例不同部位的骨外露分别采用皮片移植、皮瓣及肌皮瓣转移、皮瓣及肌皮瓣游离移植等方法 ,覆盖外露的骨面。结果　 3 1例全部存活 ,1例皮瓣部分坏死 ,2例创口延迟愈合 ,1例游离皮瓣失败。结论　对骨外露及皮肤软组织缺损应尽量在早期修复 ,最常用的方法是皮瓣及肌皮瓣的转移或移植。