利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

中医药调控IL-1治疗肿瘤机制的研究进展

炎症已成为影响肿瘤细胞增殖转移的第七大因素,而白细胞介素-1(IL-1)是炎性微环境的重要因子之一。中医药在治疗肿瘤时具有多途径、多靶点的优势,同时炎性微环境致病特点与现代中医学"癌毒"的理论相吻合。查阅近年中医药调控IL-1家族分子治疗肿瘤机制的文献,对其进行梳理,并做出概括及评价,从中医药主要调控IL-1α、IL-1β和IL-18因子治疗肿瘤展开综述,为中医药更系统化治疗肿瘤提供参考。     

疼痛管理在创伤骨科护理管理中的应用价值

目的探究创伤骨科护理管理中疼痛管理的应用价值。方法 82例患者选取于2017年6月-2018年6月,所有患者均来源于本院骨科收治的住院患者,数字表为患者分组原则,常规组41例,疼痛组41例,分别予以常规护理、常规护理+疼痛管理,比较满意度、疼痛评分及平均住院时间。结果疼痛组满意度92.68%比常规组73.17%高,差异具有统计学意义(χ^2=5.513,P <0.05),患者干预后的疼痛评分低于常规组,平均住院时间短于常规组,差异存在统计学意义(P<0.05)。结论疼痛管理用于创伤骨科护理管理中,患者疼痛明显减轻,患者满意度高,缩短了患者的平均住院时间。     

Clinical analysis of high-intensity focussed ultrasound ablation for abdominal wall endometriosis: a 4-year experience at a specialty gynecological institution

Objective: To evaluate the long-term clinical effect of high-intensity focussed ultrasound (HIFU) as a non-invasive modality for ablation of abdominal wall endometriosis (AWE) foci.

Methods: All women who were diagnosed with cutaneous endometriosis and underwent HIFU ablation and 4-year follow-up were included. Patient symptoms, imaging performed, HIFU ablation, recurrence, lesion location, size and number were collected and analyzed.

Results: A total of 51 women with 57 painful abdominal wall masses with a median volume of 4.00?cm³ and a mean age of 30.5±2.12 years were treated with HIFU. The main symptoms were a palpable painful abdominal mass (93%), protrusion of the skin (28.1%, 16) or lack of protrusion of the skin (71.9%, 41). Ultrasound was initially performed in 100% (51) of women, whereas 6% (3) required MRI examinations to distinguish the features and range of the masses. Ablation was performed with a median 300?s of sonication time, 40?min treatment time, 150?W of power and 41800?J of total energy to treat lesions that were a median volume of 3.83?cm³. No severe complications occurred, except in one patient with a first-degree skin burn, during the 48-month follow-up period. The pooled recurrence of cutaneous endometriosis occurred in 3.9% (2) of women.

Conclusion: The diagnosis of AWE should be confirmed with imaging of the lesion number, location, size and features before HIFU ablation. HIFU should be the first choice for the treatment of AWE as it is a non-invasive method, with high efficiency and safety and rapid postoperative recovery.     

医院信息化系统在武汉新冠肺炎防疫救治过程中暴露出的问题及其引发的思考

目的针对武汉地区医院信息化系统在新型冠状病毒肺炎(简称新冠肺炎)防疫救治过程中暴露出的问题,提出应对突发公共卫生事件时医院信息化的完善方法。方法充分分析医院信息化系统在新冠肺炎防疫救治中所暴露出的各个医院信息化系统结构不同、各个医院之间无法实施信息共享、门诊病房之间系统相互独立、数据信息更新不及时等九大问题,并提出医院信息化基础布局的建立、区域链及大数据临床中的应用等多项措施。结果医院信息化能力的提高有助于降低医护人员工作强度,提高患者的安全。结论新冠肺炎疫情的发生给我国医院信息化系统带来了严峻的挑战,但同时也给我们带来了更大的机遇。我国在未来针对突发公共卫生事件时,医院信息化将为医护人员、患者提供更有利的支持。