腹腔镜与开腹手术治疗长径5~10 cm中危原发性胃间质瘤的安全性和有效性比较

目的　比较腹腔镜和开腹手术治疗长径5~10 cm的中危胃间质瘤的安全性和有效性，并评估患者术后使用伊马替尼辅助治疗是否有明显益处。方法　回顾性分析2010年1月—2020年7月在南京大学医学院附属鼓楼医院接受手术治疗的72例长径在5~10 cm的中危胃间质瘤患者资料。其中腹腔镜手术组28例，开腹手术组44例。比较两组患者基本资料、病理特征、围手术期结果、住院总费用。对比术后使用和不使用伊马替尼辅助治疗的生存率。结果　开腹组和腹腔镜组临床病理特征差异无统计学意义（P>0.05）。腹腔镜组术后并发症发生率为32.1%（9/28），开腹组为52.3%（23/44），两组比较差异无统计学意义（P=0.094）。与开腹组相比，腹腔镜组总住院时间明显缩短［（12.5±3.2） d比（15.0±3.5） d，P=0.004］；术后中位住院天数明显缩短（7.5 d 比 9.0 d，P=0.006）；首次排气时间明显缩短（P=0.003）。中位随访时间58个月（13~129个月），期间未出现与肿瘤相关的死亡病例。开腹组有2例死亡，分别因乳腺癌和心脏病；腹腔镜组有1例死亡，死亡原因与胃间质瘤无关。72例患者中，40例术后接受伊马替尼辅助治疗，开腹组22例（50.0%），腹腔镜组18例（64.3%），两组接受伊马替尼辅助治疗的患者例数占比差异无统计学意义（χ2=1.414，P=0.234）。术后使用伊马替尼辅助治疗组总体生存率与未使用伊马替尼辅助治疗组相比差异有统计学意义 （P=0.015）。结论　与开腹手术相比，腹腔镜治疗长径在5~10 cm的中危胃间质瘤是一种安全有效的方法。实现R0切除的长径在5~10 cm的中危胃间质瘤患者术后使用伊马替尼辅助治疗未增加生存率，且未使用伊马替尼者未出现与肿瘤相关的死亡、复发及转移。     

药物饲料添加剂吉他霉素耐药性风险评估

目的 为给兽药减量政策的制定、动物源性食品安全的维护提供理论依据。方法 利用每日允许摄入量（ADI）、估算每日摄入量（EDI）及慢性风险熵（CRQ），对中国居民通过摄入肉蛋乳等动物性食品暴露于吉他霉素的耐药性风险进行点评估。结果 随着年龄增长，中国居民的吉他霉素膳食暴露量逐渐降低。2～7岁人群吉他霉素的膳食暴露量最高，男女分别为2.17和2.29 μg/ ( kg·bw·d)；＞65岁人群膳食暴露量最低，男女分别为0.45和0.46 μg/ ( kg·bw·d)。2～7岁人群通过摄入乳制品的吉他霉素的膳食暴露量最大，男女分别为1.15和1.22 μg/ ( kg·bw·d)，8岁以上人群通过摄入肉类食品的吉他霉素的膳食暴露量最大。中国居民通过摄入肉蛋乳等动物性食品暴露于吉他霉素，各年龄段CRQ均小于1。其中2～7岁人群CRQ值最高，风险最大；65岁以上人群CRQ值最低，风险最小。结论 中国居民通过摄入动物性食品的吉他霉素耐药性风险较低，危害程度较小，但儿童通过摄入乳制品的吉他霉素耐药性风险较高，有必要制定乳制品中吉他霉素残留的限量标准。     

肠造口患者及家属焦虑抑郁状况及对患者造口自护能力的影响

目的了解造口患者及家属围手术期及术后近期焦虑、抑郁的变化情况,探讨其可能的原因,以及焦虑抑郁对患者造口自我护理能力的影响。方法应用汉密顿焦虑及抑郁量表、造口适应量表和造口自我效能量表,对45组造口患者及家属围手术期(术前、术后3天)及术后1、3、6个月分别进行测量,对所得结果进行统计分析。结果造口患者及家属围手术期及术后近期焦虑与抑郁评分组内比较,差异有统计学意义(均P0.05);术后6个月家属焦虑、抑郁与患者自我效能及造口适应水平呈正相关(均P0.01)。结论造口患者家属的负性情绪影响患者对造口的适应水平及焦虑抑郁水平,医护人员应在术前早期对患者及家属提供支持和帮助,使其较好地控制焦虑、抑郁,并在术后持续关注患者生理、心理需求,提高患者造口适应能力,恢复身心健康。     

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria

Journal of Neurology - Combined homocysteinemia with methylmalonic aciduria (MMA/HCY) are genetic disorders of intracellular cobalamin (cbl) transport and processing that cause downstream...     

Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling

Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by bone dysplasia and many other highly variable features. The gene responsible for CHH is the RNA component of the mitochondrial RNA-processing endoribonuclease (RMRP) gene. Currently, the pathogenesis of osteochondrodysplasia and extraskeletal manifestations in CHH patients remains incompletely understood; in addition, there are no viable animal models for CHH. We generated an rmrp KO zebrafish model to study the developmental mechanisms of CHH. We found that rmrp is required for the patterning and shaping of pharyngeal arches. Rmrp mutation inhibits the intramembranous ossification of skull bones and promotes vertebrae ossification. The abnormalities of endochondral bone ossification are variable, depending on the degree of dysregulated chondrogenesis. Moreover, rmrp mutation inhibits cell proliferation and promotes apoptosis through dysregulating the expressions of cell-cycle- and apoptosis-related genes. We also demonstrate that rmrp mutation upregulates canonical Wnt/β-catenin signaling; the pharmacological inhibition of Wnt/β-catenin could partially alleviate the chondrodysplasia and increased vertebrae mineralization in rmrp mutants. Our study, by establishing a novel zebrafish model for CHH, partially reveals the underlying mechanism of CHH, hence deepening our understanding of the role of rmrp in skeleton development.     

Coinheritance of generalized pustular psoriasis and familial Behçet‐like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state

Generalized pustular psoriasis (GPP) is now known to be caused by biallelic variants in IL36RN and monoallelic variants in CARD14 and AP1S3. The presence of a modifier locus or oligogenic inheritance have been hypothesized. We report on a patient with a unique coinheritance of pathogenic variants in IL36RN (c.115+6T>C) and TNFAIP3 (c.547C>T, p.R183 * ) causing the genetic entities GPP and familial Behçet‐like autoinflammatory syndrome (AISBL). The heterozygous variant in IL36RN identified by Sanger sequencing was inherited from his unaffected father, while the heterozygous variant in TNFAIP3 was detected by whole‐exome sequencing and was also identified in the patient's AISBL‐affected maternal relatives. Further functional studies are required to research whether the variant of TNFAIP3 plays a part in the development of GPP or simply causes the Behçet's disease phenotype. However, our data suggest that whole‐exome sequencing for the heterozygous carrier of the IL36RN gene in GPP be used to find the potential second genetic locus.