检索结果-南通市图书馆

ehlers-danlos syndrome:prevalence and outcomes in gender affirming surgery-a single institution experience

Plastic and Aesthetic Research 2022年第1期9卷 605-613页

作者： Alireza Najafian Isabel Cylinder Breanna Jedrzejewski Craig Sineath Zbigniew Sikora Leigh H.Martin Daniel Dugi Geolani W.Dy Jens Urs Berli Division of Plastic Surgery Department of General SurgeryOregon Health&Science UniversityPortlandOR 97239USA Department of Urology Oregon Health&Science UniversityPortlandOR 97239USA

Aim:Patients with ehlers-danlos Syndrome(EDS)are considered to have an increased risk for wound healing *** may therefore be hesitant to offer elective surgeries,including gender-affirming surgeries(GAS),to EDS *** our center,we frequently encountered patients presenting for GAS evaluation with the co-existing diagnosis of *** study aims to establish the prevalence of EDS diagnosis in our GAS patients and compare their post-operative complications to patients without EDS ***:This is a single-institution retrospective case-control study on all patients who underwent GAS from *** include EDS diagnosis,demographics,operation,and complications(including minor wound healing issues).Results:Of 1363 patients presenting for GAS,36(2.6%)had EDS diagnoses and were matched with 108 control *** complications requiring surgical intervention in the OR occurred in 6 patients(4.2%),(2.8% EDS vs.5.4%controls;P=0.63),while 8.3% of EDS and 14% of controls required minor interventions(P=0.38).The rate of wound healing issues of any severity was 28% in EDS vs.47% in control groups(P=0.04).Conclusion:The prevalence of EDS diagnosis in our patient population is 132 times the highest reported prevalence in the general *** healing issues and the need for additional post-operative interventions in the group with EDS diagnosis were not significantly different from the control *** findings suggest that patients with a diagnosis of EDS undergoing GAS have comparable outcomes to patients without *** for post-operative complications should not be a barrier to offering GAS to patients presenting with an EDS diagnosis.

关键词： ehlers-danlos gender transgender gender affirmation surgery outcomes

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Anterior cervical corpectomy decompression and fusion for cervical kyphosis in a girl with ehlers-danlos syndrome:A case report

引用

World Journal of Clinical Cases 2019年第4期7卷 532-537页

作者： Huang Fang Peng-Fei Liu Chang Ge Wen-Zhi Zhang Xi-Fu Shang Cai-Liang Shen Rui He Department of Spinal Surgery The First Affiliated Hospital of USTC Department of Spinal Surgery The First Affiliated Hospital of Anhui Medical University

BACKGROUND Spinal deformities in ehlers-danlos syndrome(EDS; type VI) are generally progressive and severe. Surgical treatment has been described for kyphoscoliosis in the thoracolumbar spine. However, there are few studies describing the consequences of an anterior approach in cervical kyphosis. An anterior approach may not be able to fully decompress the spinal canal and restore the normal curvature of the cervical spine. Therefore, the anterior approach for cervical kyphosis in young children is hard. We describe the first case in an EDS girl with cervical kyphosis who received satisfactory anterior cervical corpectomy decompression and *** SUMMARY The chief complaints of a 16-year-old girl with EDS were double upper limb weakness for 7 years and double lower limb walking instability for 2 ***, the imaging results revealed that the degree of kyphosis from cervical vertebra 2 to 4 accompanying with spinal cord compression was 30°. An anterior cervical corpectomy involving cervical vertebra 3 and a titanium mesh implant were performed with internal fixation. The results at 3 mo after surgery demonstrated that the anterior fusion was solid, and the kyphosis of the cervical spine was corrected. Additionally, the power of all four extremities was significantly *** The incidence rate of cervical kyphosis in EDS is rare. The surgical treatment for these patients, especially an anterior approach, is challenging. Therefore, to develop safer and more effective strategies to treat cervical kyphosis in EDS,there is still much work to do.

关键词： Cervical kyphosis ehlers-danlos syndrome Anterior cervical corpectomy decompression and fusion Case report

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

ehlersdanlos综合征1例

引用

中国皮肤性病学杂志 1999年第5期13卷 292-293页

作者：徐子江袁淑英江西省万年县人民医院皮肤科 335500 江西省万年县人民医院妇产科

ＥｈｌｅｒｓＤａｎｌｏｓ综合征，又名弹力过度性皮肤，橡皮皮肤病。以皮肤弹性过度，皮肤、血管脆性增加，关节松弛可过度伸展为其特征，是一种具有遗传倾向的疾病。本病临床罕见，兹将我科所见１例报告如下。患儿女，１３岁。皮肤... 详细信息

ＥｈｌｅｒｓＤａｎｌｏｓ综合征，又名弹力过度性皮肤，橡皮皮肤病。以皮肤弹性过度，皮肤、血管脆性增加，关节松弛可过度伸展为其特征，是一种具有遗传倾向的疾病。本病临床罕见，兹将我科所见１例报告如下。患儿女，１３岁。皮肤脆弱，轻微外伤即破裂，不易愈合８年，外阴部和右小腿血肿１月。患儿出生时皮肤正常，约５岁开始发现皮肤十分脆弱，碰伤后易出现瘀血斑，以四肢为主，皮肤破损后愈合缓慢，遗留菲薄透明瘢痕。８岁时左膝部轻度碰伤后发生两条深而长的撕裂口，缝合后伤口仍裂开，后采用间断拆线，约３个月愈合，遗留烟卷纸样菲薄瘢痕。１月前骑自行车后外阴部和右小腿出现肿块，渐增大，在当地医院疑为“肿瘤”未行任何处理。家族中

关键词： ehlers-danlos 综合征诊断治疗

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

ehlers-danlos综合征1例

引用

临床皮肤科杂志 1998年第3期27卷 191-192页

作者：黄岚方丽上海医科大学华山医院皮肤科 200040

报告1例ehlers-danlos综合征。患者男性，14岁。其临床特征为皮肤弹性增加，关节活动过度，皮肤血管脆性增加，此外尚伴有指甲。

关键词：弹力过度性 ehlers-danlos 综合征皮肤

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Genomic Analysis of 727 Patients with ehlers-danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder

引用

Journal of Biosciences and Medicines 2019年第12期7卷 181-204页

作者： Golder N. Wilson Texas Tech University Health Science Center Lubbock and Kinder Genome Genetics Private Practice Dallas TX USA

A novel medical approach for qualifying DNA variants found by whole exome sequencing (WES) facilitates discovery of new gene-disease relationships and emphasizes that DNA change must be correlated with clinical findings before having utility for diagnosis. Delineation of an arthritis-adrenaline disorder (AAD) process qualified variants in 23 genes as diagnostically useful in 727 patients having WES among 1656 with ehlers-danlos syndrome (EDS);these results distinguished them from 102 patients who had qualified gene variants among 728 with developmental disability. Excess maternal transmission of AAD by pedigree analysis plus 167 maternally versus 111 paternally transmitted DNA variants and 75 patients with only mitochondrial DNA variants suggest maternal influence on inheritance of AAD and its subsumed EDS types. Genes grouped by impact on different connective tissue elements showed variation in similar numbers of patients with hypermobile or classical EDS, benign joint hypermobility, or predominant dysautonomia: COL7A1, FLG acting on skin in 21 patients;SCN9A/10A/11A, POLG on nerve in 24;COL6A1/A2/A3, COL12 on muscle in 19;COL5A1/A2, FBN1, TGFB2/3, TGFBR1/2 on tissue matrix in 51;COL3A1, VWF on vessel in 18;COL1A1/A2, COL11A1/A2 acting on bone in 15 patients. Each gene group acts through a postulated articulo-autonomic dysplasia cycle to produce reciprocal tissue laxity and dysautonomia findings that transcend EDS types. This same tissue laxity-dysautonomia cycle acts to produce secondary complications in disorders ranging from distinctive connective tissue dysplasias to developmental disorders with hypotonia and acquired conditions with autonomic imbalance. Several altered genes were previously associated with neuromuscular disorders, foreshadowing a large myopathic EDS category that will incorporate many patients with hypermobility. The importance of muscle for joint constraint supports present exercise and future mesenchymal stem cell therapies, whether AAD is g

关键词： ehlers-danlos Syndrome Connective Tissue Dysplasia Arthritis-Adrenaline Disorder Articulo-Autonomic Dysplasia Whole Exome Sequencing Collagen Genes

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Successful coil embolization with a basic technique for ruptured posterior tibial artery in a patient with ehlers-danlos syndrome type IV: A case report

引用

Case Reports in Clinical Medicine 2013年第2期2卷 131-134页

作者： Satoko Nezu Morio Nagahata Keisuke Onishi Rei Kondo Shinjiro Saito Department of Diagnostic and Interventional Neuroradiology Yamagata City Hospital Saiseikan Yamagata Japan Department of Neurosurgery Yamagata City Hospital Saiseikan Yamagata Japan Department of Surgery Yamagata City Hospital Saiseikan Yamagata Japan

The surgical management of vascular complication with ehlers-danlos Syndrome type IV (EDS-IV) is extremely challenging because of its tissue or organ fragility including arteries. Less traumatic maneuvers and devices have been recommended to perform the endovascular treatment for the vascular lesion of EDS-IV, although the endovascular procedure is less invasive than surgical intervention. We report a 23-year-old man with EDS-IV suffered from left posterior tibial arterial rupture. We performed internal trapping of the ruptured segment using detachable coils with a standard technique via the contralateral femoral artery puncture. The patient was discharged without any complication associated with the endovascular procedure. Embolization by a basic technique, performed with greatest care, is a safe and useful treatment option which we radiologists should try for managing EDS-IV patients.

关键词： ehlers-danlos Syndrome Type IV Peripheral Arterial Rupture Coil Embolization

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in ehlers-danlos Syndrome and Related Conditions

引用

Journal of Biosciences and Medicines 2019年第6期7卷 149-168页

作者： Golder N. Wilson Texas Tech University Health Science Center Lubbock and KinderGenome Medical Genetics Private Practice Dallas TX USA

Findings in 1656 patients referred for evaluation of ehlers-danlos syndrome, 710 evaluated systematically using novel history and physical forms, defined a characteristic clinical pattern termed arthritis-adrenaline disorder, a genus that provides immediate therapy while delineation of particular tissue laxity/dysautonomia species is underway. Preliminary diagnoses, clinical findings, and laboratory results were entered into an MS Excel? database with IRB approval and correlations or statistical significance analyzed using Excel? functions. Frequencies of 80 findings by history and 40 on physical were similar among EDS groups, females paralleling males with more total history (35 versus 23) and physical (18 versus 15) findings. Finding frequencies in joint-skeletal (6.2 of 15) and dysautonomia (11 of 20) subcategories were substantial regardless of age, EDS diagnosis, or referral source, the latter was shown by 6.4 and 13 average findings for cardiology, 5.3 and 8.3 for orthopedic referrals. Early affliction evidenced by history findings averaging 19.5 in those under 12 increased dramatically to 25 for teens and 32 for adults with plateauing at older ages arguing against degenerative disease. Frequent neuromuscular symptoms in females emphasize surrounding muscle support and protection of joint-connective tissue as a key factor in decreased male severity. The congruent clinical profile suggests operation of an articulo-autonomic dysplasia cycle where lax vessels and lower body pooling elicit sympathetic response, autonomic imbalance in turn affecting small nerve fibers and enhancing connective tissue laxity. Recognition of this arthritis-adrenalin disorder can guide management strategies while underlying causes are pursued, among them, physical therapy, exercise, and vitamin D to build muscle/bone strength;lower gluten/dairy and antihistamine protocols for low bowel motility/mast-cell activation;hydration, salt, and exercise for postural orthostatic tachycardia synd

关键词： ehlers-danlos Syndrome Arthritis-Adrenaline Disorder Connective Tissue Dysplasia Hypermobility Dysautonomia Joint Laxity Skin Elasticity IBS POTS MCAD

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Conservative management of small bowel perforation in ehlers-danlos syndrome type Ⅳ

引用

World Journal of Gastrointestinal Endoscopy 2013年第8期5卷 398-401页

作者： Satya Allaparthi Himanshu Verma David L Burns Ann M Joyce Department of Medicine Saint Vincent Hospital Department of Gastroenterology Lahey Clinic

ehlers-danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. EDS type Ⅳ, or vascular EDS, is caused by loss-of-function mutations in the type Ⅲ pro-collagen gene (COL3A1 ). Common complications of EDS type IV include gastrointestinal bleeding and bowel perforations, posing diagnostic and therapeutic dilemmas for both surgeons and gastroenterologists. Here, we describe a complicated case of EDS type Ⅳ in a 35-year-old caucasian female who presented with overt gastro-intestinal bleeding. The patient had a prior history of spontaneous colonic perforation, and an uncomplicated upper endoscopy was performed. A careful ileoscopy was terminated early due to tachycardia and severe ab-dominal pain, and a subsequent computed tomography scan confirmed the diagnosis of ileal perforation. The patient was managed conservatively, and demonstrated daily improvement. At the time of hospital discharge, no further episodes of gastrointestinal blood loss had occurred. This case highlights the benefit of conservative management for EDS patients with gastrointestinal hemorrhage. It is recommended that surgical treatmentshould be reserved for patients who fail conservative treatment or in cases of hemodynamic instability. Finally, this case demonstrates the necessity for a higher threshold of operative or endoscopic interventions in EDS type Ⅳ patients.

关键词： Type-Ⅳ ehlers-danlos syndrome Gastro-intestinal hemorrhage Bowel perforation Conservative management Non-operative COL3A1 Connective tissue disorder

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

ehlers-danlos综合征

引用

国外医学.遗传学分册 1983年第1期06卷 10-15页

作者：胡以平蒋左庶第二军医大学

ehlers-danlos综合征(简称为EDS),又称Cheraoguboy氏综合征、皮肤结缔组织发育不良综合征,为橡皮性皮肤。它是一组全身性的结缔组织异常的遗传性疾病,许多器官可以同时受累,临床上以皮肤脆弱并过度伸展、关节活动度过大及易形成皮下

关键词：胶原蛋白胶原纤维白纤维型胶原 ehlers-danlos 胶原代谢综合征综合病症 EDS 纤维细胞

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

ehlers-danlos綜合癥口腔表現1例

引用

镜湖医学 2016年第1期16卷 77-77,91,F0003页

作者：黃玉輝汪淼劉琴澳門鏡湖醫院口腔中心中國

comehlers-danlos綜合癥(ehlers-danlos syndrome,EDS)是一類罕見的遺傳性疾病,世界範圍內發生率約為1/5000[1],我國尚未有相關統計資料。本文對2010年於本院就診且隨訪觀察的1例ehlers-danlos綜合癥病例進行報導。患兒女,初診年齡為9歲... 详细信息

comehlers-danlos綜合癥(ehlers-danlos syndrome,EDS)是一類罕見的遺傳性疾病,世界範圍內發生率約為1/5000[1],我國尚未有相關統計資料。本文對2010年於本院就診且隨訪觀察的1例ehlers-danlos綜合癥病例進行報導。患兒女,初診年齡為9歲,因牙齒不齊就診。患兒一歲多因發育遲緩於仁伯爵綜合醫院就診,最終診斷為ehlers-danlos綜合癥。患有主動脈弓擴張、關節活動過度、脊柱側凸、斜視,已行脊柱矯正手術、斜視矯正手術。口腔頜面部檢查:患兒頜面部發育不良,眼距較寬,眼球突出,前額疤痕,下頜後縮,顳下頜關節未發現異常。

关键词：活動眼球突出 ehlers-danlos 正手口腔脊柱

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：