目的探讨腹膜外途径保留女性生殖器官的膀胱全切原位回肠膀胱术手术技术并评估其治疗效果和肿瘤学结果。方法收集2019年2月至2022年12月期间就诊于青岛大学附属医院泌尿外科12例患者的基本资料、手术时间、出血量、性生活质量、排尿控...目的探讨腹膜外途径保留女性生殖器官的膀胱全切原位回肠膀胱术手术技术并评估其治疗效果和肿瘤学结果。方法收集2019年2月至2022年12月期间就诊于青岛大学附属医院泌尿外科12例患者的基本资料、手术时间、出血量、性生活质量、排尿控制情况以及术后并发症的数据。定期随访患者的肿瘤和功能结局,术后使用女性性功能指数(Female Sexual Function Index,FSFI)评估性功能状况。结果回顾性分析12例平均年龄为51岁的接受保留生殖器官膀胱全切原位尿流改道术的女性患者。12例手术均顺利完成。平均手术时间(223.58±28.45)min,平均术中出血量(165.00±80.51)ml,术后病理切缘均显示阴性,无淋巴结转移。日间排尿可控制12例(100%),夜间排尿可控制10例(83.3%),患者术后平均FSFI评分为(21.9±1.2)分。结论对于经过筛选的女性膀胱癌患者,生殖器官保留技术是一种安全可行的手术策略。保存生殖器和血管神经束在肿瘤学上可能是安全的,临床疗效满意。展开更多
Leprosy is characterized by skin lesions and peripheral nerve damage. It may take a long time before the diagnosis can be confirmed if the patients have no typical skin involvements. Here we report an unusual case. A ...Leprosy is characterized by skin lesions and peripheral nerve damage. It may take a long time before the diagnosis can be confirmed if the patients have no typical skin involvements. Here we report an unusual case. A 40-year-old male with lepromatous leprosy showed a gradual onset of bilateral symmetrical neuropathies without characteristic skin manifestations seven years after onset and with pulmonary tuberculosis simultaneously. He was misdiagnosed as having Guillani-Barr6 syndrome and systemic necrotizing vasculitis for 10 years until the skin biopsy was performed. This case indicates that the risk of leprosy exists, though new cases being detected have significantly declined over the last 50 years; neurologists need to pay more attention to leprosy with various manifestations .展开更多
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases. The genotypes and phenotypes of HSP are extremely heterogenous. SPG3A is one of the identified genes underlying HSP, and codes for a GTPase...Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases. The genotypes and phenotypes of HSP are extremely heterogenous. SPG3A is one of the identified genes underlying HSP, and codes for a GTPase, atlastin. Mutations in SPG3A are currently believed to be associated with early onset and mild phenotypes. And most structura predictions could not detect gross changes in the mutant protein. However, in a severely affected HSP family we have identified a novel SPG3A mutation, c.1228G>A (p.G410R), in a Tibetan kindred. The mutation occurred at the highly conserved nucleotide and co-segregated with the disease, and was absent in the control subjects. Structural predictions showed that the Tibetan mutation occurred at the linking part between the guanylate-binding protein domain (GB, the ball region) and the transmembrane helices (TM, the rod region) at the start point of an α-helix, which may disrupt the helix, and cause changes in the overall structure of the transmembrane region of the molecule. Our results indicate that severe pheno- types can also arise from SPG3A mutations and the linking part of the guanylate-binding protein domainand the transmembrane helices might be crucial in determining the severity of the disease. This paper not only presents the first SPG3A mutational report from the Chinese population, but also provides po- tential evidence for a possible correlation between the severity of the phenotypes of HSP with the ex- tension of the changes in the protein structures of atlastin.展开更多
文摘目的探讨腹膜外途径保留女性生殖器官的膀胱全切原位回肠膀胱术手术技术并评估其治疗效果和肿瘤学结果。方法收集2019年2月至2022年12月期间就诊于青岛大学附属医院泌尿外科12例患者的基本资料、手术时间、出血量、性生活质量、排尿控制情况以及术后并发症的数据。定期随访患者的肿瘤和功能结局,术后使用女性性功能指数(Female Sexual Function Index,FSFI)评估性功能状况。结果回顾性分析12例平均年龄为51岁的接受保留生殖器官膀胱全切原位尿流改道术的女性患者。12例手术均顺利完成。平均手术时间(223.58±28.45)min,平均术中出血量(165.00±80.51)ml,术后病理切缘均显示阴性,无淋巴结转移。日间排尿可控制12例(100%),夜间排尿可控制10例(83.3%),患者术后平均FSFI评分为(21.9±1.2)分。结论对于经过筛选的女性膀胱癌患者,生殖器官保留技术是一种安全可行的手术策略。保存生殖器和血管神经束在肿瘤学上可能是安全的,临床疗效满意。
文摘Leprosy is characterized by skin lesions and peripheral nerve damage. It may take a long time before the diagnosis can be confirmed if the patients have no typical skin involvements. Here we report an unusual case. A 40-year-old male with lepromatous leprosy showed a gradual onset of bilateral symmetrical neuropathies without characteristic skin manifestations seven years after onset and with pulmonary tuberculosis simultaneously. He was misdiagnosed as having Guillani-Barr6 syndrome and systemic necrotizing vasculitis for 10 years until the skin biopsy was performed. This case indicates that the risk of leprosy exists, though new cases being detected have significantly declined over the last 50 years; neurologists need to pay more attention to leprosy with various manifestations .
基金supported by the Chinese 863 Hi-Tech Project(Grant No.2001AA221102)the Natural Science Foundation of Guangdong Province(Grant No.031673)the China Medical Board of New York(Grant No.01-759).
文摘Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases. The genotypes and phenotypes of HSP are extremely heterogenous. SPG3A is one of the identified genes underlying HSP, and codes for a GTPase, atlastin. Mutations in SPG3A are currently believed to be associated with early onset and mild phenotypes. And most structura predictions could not detect gross changes in the mutant protein. However, in a severely affected HSP family we have identified a novel SPG3A mutation, c.1228G>A (p.G410R), in a Tibetan kindred. The mutation occurred at the highly conserved nucleotide and co-segregated with the disease, and was absent in the control subjects. Structural predictions showed that the Tibetan mutation occurred at the linking part between the guanylate-binding protein domain (GB, the ball region) and the transmembrane helices (TM, the rod region) at the start point of an α-helix, which may disrupt the helix, and cause changes in the overall structure of the transmembrane region of the molecule. Our results indicate that severe pheno- types can also arise from SPG3A mutations and the linking part of the guanylate-binding protein domainand the transmembrane helices might be crucial in determining the severity of the disease. This paper not only presents the first SPG3A mutational report from the Chinese population, but also provides po- tential evidence for a possible correlation between the severity of the phenotypes of HSP with the ex- tension of the changes in the protein structures of atlastin.
