性发育异常(DSD)是一类因染色体核型、性腺解剖与表型不一致导致的复杂内分泌疾病。根据2006年欧洲儿科内分泌协会(European Society for Pediatric Endocrinology,ESPE)与美国劳森威尔金斯儿科内分泌协会(Lawson Wilkins Pediatric End...性发育异常(DSD)是一类因染色体核型、性腺解剖与表型不一致导致的复杂内分泌疾病。根据2006年欧洲儿科内分泌协会(European Society for Pediatric Endocrinology,ESPE)与美国劳森威尔金斯儿科内分泌协会(Lawson Wilkins Pediatric Endocrine Society,LWPES)共同制定的临床指南,DSD可分为3个临床分类:46,XX型DSD的发病机制主要涉及雄激素分泌异常增多或SRY基因异位表达;46,XY型DSD多源于睾丸组织分化障碍或雄激素代谢异常;第3类则特指由性染色体数目或结构变异引起的DSD。该分类体系系统地从遗传学角度阐释了不同性发育障碍的病理基础[1]。展开更多
性发育异常(disorders of sex development,DSD)是指性染色体、性腺或性激素性别不一致的先天性异常,涉及遗传、内分泌及解剖结构的多重异常[1]。新生儿发病率约为1/5000~1/4500,临床表现复杂多样,约60%患者存在不同程度的生育功能障碍...性发育异常(disorders of sex development,DSD)是指性染色体、性腺或性激素性别不一致的先天性异常,涉及遗传、内分泌及解剖结构的多重异常[1]。新生儿发病率约为1/5000~1/4500,临床表现复杂多样,约60%患者存在不同程度的生育功能障碍[2]。随着生殖医学技术进步,DSD患者的生育需求逐渐得到临床关注。本文将系统阐述女性表型DSD的生育力评估及不同类型DSD的生育管理策略。展开更多
目的:探讨微创全瓷贴面配合数字化微笑设计(Digital smile design,DSD)技术修复前牙切缘切角缺损的美学效果。方法:选取2019年1月-2022年1月笔者医院接诊的78例前牙切缘切角缺损患者为研究对象,采用区组随机化法分为观察组(116颗患牙)...目的:探讨微创全瓷贴面配合数字化微笑设计(Digital smile design,DSD)技术修复前牙切缘切角缺损的美学效果。方法:选取2019年1月-2022年1月笔者医院接诊的78例前牙切缘切角缺损患者为研究对象,采用区组随机化法分为观察组(116颗患牙)和对照组(120颗患牙),每组39例。对照组采用微创全瓷贴面修复,观察组给予微创全瓷贴面联合DSD技术进行修复。比较两组患者治疗6个月后的满意度、美学效果[美国公共卫生署评估标准(United states public health service,USPHS)],对比治疗前后两组患者的红色美学指数、牙周健康指数[牙龈指数(Gingival index,GI)、牙菌斑指数(Plaque index,PLI)、龈沟出血指数(Sulcus bleeding index,SBI)]的变化。结果:治疗6个月后,两组美学效果各维度评级有显著差异,观察组治疗满意率、红色美学指数评分均显著高于对照组(P<0.05);治疗6个月后,两组GI、PLI、SBI均明显降低,且观察组显著低于对照组(P<0.05)。结论:微创全瓷贴面联合DSD技术修复前牙切缘切角缺损可有效改善牙齿美学效果,提高患者治疗满意度,适合临床推广。展开更多
性发育异常(disorders of sex development,DSD)是一类临床表型异质性很强的疾病,患病率为1/5000~1/4500。根据国际分类标准,按照染色体核型分类,DSD分为性染色体DSD、46,XY DSD和46,XX DSD,仅35%~45%的46,XY DSD患者和10%的46,XX DSD...性发育异常(disorders of sex development,DSD)是一类临床表型异质性很强的疾病,患病率为1/5000~1/4500。根据国际分类标准,按照染色体核型分类,DSD分为性染色体DSD、46,XY DSD和46,XX DSD,仅35%~45%的46,XY DSD患者和10%的46,XX DSD患者的病因能够明确。DSD的表型和致病机制仍然是目前的研究热点。DEAH-box解旋酶37(DEAH-box helicase 37,DHX37)基因是2019年新发现的性发育异常候选致病基因。近年来,研究者们证实了DHX37基因的变异与46,XY DSD疾病有着密切的联系。DHX37基因作为基因组中最保守的基因之一,其诊断较为困难,并且DHX37基因如何导致46,XY DSD疾病的分子机制尚不清楚。近年来,许多研究者通过全外显子组基因测序技术筛选出DHX37基因的变异位点并对其致病机制进行深入研究,扩展了有关性发育异常的遗传图谱。该文综述了DHX37基因的结构与功能,DHX37基因变异引起的临床表型和DSD的致病机制,以及DHX37基因变异在核糖体病背景下的致病机制。展开更多
Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to eluci...Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://www.copangroup.com/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.展开更多
文摘性发育异常(DSD)是一类因染色体核型、性腺解剖与表型不一致导致的复杂内分泌疾病。根据2006年欧洲儿科内分泌协会(European Society for Pediatric Endocrinology,ESPE)与美国劳森威尔金斯儿科内分泌协会(Lawson Wilkins Pediatric Endocrine Society,LWPES)共同制定的临床指南,DSD可分为3个临床分类:46,XX型DSD的发病机制主要涉及雄激素分泌异常增多或SRY基因异位表达;46,XY型DSD多源于睾丸组织分化障碍或雄激素代谢异常;第3类则特指由性染色体数目或结构变异引起的DSD。该分类体系系统地从遗传学角度阐释了不同性发育障碍的病理基础[1]。
文摘性发育异常(disorders of sex development,DSD)是指性染色体、性腺或性激素性别不一致的先天性异常,涉及遗传、内分泌及解剖结构的多重异常[1]。新生儿发病率约为1/5000~1/4500,临床表现复杂多样,约60%患者存在不同程度的生育功能障碍[2]。随着生殖医学技术进步,DSD患者的生育需求逐渐得到临床关注。本文将系统阐述女性表型DSD的生育力评估及不同类型DSD的生育管理策略。
文摘目的:探讨微创全瓷贴面配合数字化微笑设计(Digital smile design,DSD)技术修复前牙切缘切角缺损的美学效果。方法:选取2019年1月-2022年1月笔者医院接诊的78例前牙切缘切角缺损患者为研究对象,采用区组随机化法分为观察组(116颗患牙)和对照组(120颗患牙),每组39例。对照组采用微创全瓷贴面修复,观察组给予微创全瓷贴面联合DSD技术进行修复。比较两组患者治疗6个月后的满意度、美学效果[美国公共卫生署评估标准(United states public health service,USPHS)],对比治疗前后两组患者的红色美学指数、牙周健康指数[牙龈指数(Gingival index,GI)、牙菌斑指数(Plaque index,PLI)、龈沟出血指数(Sulcus bleeding index,SBI)]的变化。结果:治疗6个月后,两组美学效果各维度评级有显著差异,观察组治疗满意率、红色美学指数评分均显著高于对照组(P<0.05);治疗6个月后,两组GI、PLI、SBI均明显降低,且观察组显著低于对照组(P<0.05)。结论:微创全瓷贴面联合DSD技术修复前牙切缘切角缺损可有效改善牙齿美学效果,提高患者治疗满意度,适合临床推广。
文摘Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://www.copangroup.com/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.
