Pub Date : 2024-08-01Epub Date: 2024-05-28DOI: 10.1007/s00104-024-02105-x
Henning Dralle, Frank Weber, Kerstin Lorenz, Andreas Machens
Medullary thyroid cancer (MTC) is the most frequent manifestation of multiple endocrine neoplasia type 2 (MEN2) that determines the oncological outcome. Germline mutations in the rearranged during transfection (RET) protooncogene, a tumor suppressor gene on chromosome 10q11.2, were identified 30 years ago as the genetic basis of MEN2 and published in 1993 and 1994. These seminal findings gave rise to the concept of prophylactic thyroidectomy for asymptomatic gene mutation carriers based on a positive RET gene test, which has become the standard of care ever since. Clinical genetic investigations showed genotype-phenotype correlations with respect to the individual gene mutation regarding the penetrance and onset of MTC and to a lesser extent also with respect to the other components of MEN2, pheochromocytoma and primary hyperparathyroidism. From this a clinically relevant risk stratification could be derived. Initially, the optimal timing of prophylactic thyroidectomy was primarily based on the RET genotype alone, which was not sufficient for a precise age recommendation and subsequently required additional consideration of calcitonin serum levels for fine tuning. Calcitonin levels first show the risk of lymph node metastasis when they exceed the upper normal limit of the assay independent of carrier age and RET mutation. Routine calcitonin screening of patients with nodular thyroid disease, screening of families on identification of MEN2 index patients, and pre-emptive thyroidectomy in carriers of gene mutations with normal calcitonin levels have led to the fact that nowadays, 30 years after the first description of the gene mutations causing the disease, the life-threatening hereditary MTC has become curable: a shining example for the success of translational transnational medical research for the benefit of patients.
甲状腺髓样癌是多发性内分泌瘤病2型(MEN2)最常见的表现形式,它决定着肿瘤的结局。30 年前,位于染色体 10q11.2 上的肿瘤抑制基因--转染过程中重排(RET)原癌基因的种系突变被确定为 MEN2 的遗传基础,并于 1993 年和 1994 年发表。这些开创性的发现催生了根据 RET 基因检测阳性结果对无症状基因突变携带者进行预防性甲状腺切除术的概念,自此成为治疗标准。临床遗传学调查显示,在 MTC 的穿透性和发病方面,单个基因突变的基因型与表型之间存在相关性,在较小程度上,与 MEN2 的其他组成部分、嗜铬细胞瘤和原发性甲状旁腺功能亢进也存在相关性。由此可以得出与临床相关的风险分层。起初,预防性甲状腺切除术的最佳时机主要是根据RET基因型来确定的,但这并不足以给出精确的年龄建议,因此需要额外考虑降钙素血清水平来进行微调。降钙素水平一旦超过检测的正常上限,淋巴结转移的风险就会首次显现出来,而与携带者年龄和 RET 基因突变无关。对结节性甲状腺疾病患者进行降钙素常规筛查,在发现MEN2指数患者时对其家庭进行筛查,以及对降钙素水平正常的基因突变携带者进行先期甲状腺切除术,这些措施使威胁生命的遗传性MTC在首次描述致病基因突变30年后的今天变得可以治愈:这是跨国转化医学研究成功造福患者的光辉典范。
{"title":"[30 years of prophylactic thyroidectomy for hereditary medullary thyroid cancer : A milestone in translational medicine].","authors":"Henning Dralle, Frank Weber, Kerstin Lorenz, Andreas Machens","doi":"10.1007/s00104-024-02105-x","DOIUrl":"10.1007/s00104-024-02105-x","url":null,"abstract":"<p><p>Medullary thyroid cancer (MTC) is the most frequent manifestation of multiple endocrine neoplasia type 2 (MEN2) that determines the oncological outcome. Germline mutations in the rearranged during transfection (RET) protooncogene, a tumor suppressor gene on chromosome 10q11.2, were identified 30 years ago as the genetic basis of MEN2 and published in 1993 and 1994. These seminal findings gave rise to the concept of prophylactic thyroidectomy for asymptomatic gene mutation carriers based on a positive RET gene test, which has become the standard of care ever since. Clinical genetic investigations showed genotype-phenotype correlations with respect to the individual gene mutation regarding the penetrance and onset of MTC and to a lesser extent also with respect to the other components of MEN2, pheochromocytoma and primary hyperparathyroidism. From this a clinically relevant risk stratification could be derived. Initially, the optimal timing of prophylactic thyroidectomy was primarily based on the RET genotype alone, which was not sufficient for a precise age recommendation and subsequently required additional consideration of calcitonin serum levels for fine tuning. Calcitonin levels first show the risk of lymph node metastasis when they exceed the upper normal limit of the assay independent of carrier age and RET mutation. Routine calcitonin screening of patients with nodular thyroid disease, screening of families on identification of MEN2 index patients, and pre-emptive thyroidectomy in carriers of gene mutations with normal calcitonin levels have led to the fact that nowadays, 30 years after the first description of the gene mutations causing the disease, the life-threatening hereditary MTC has become curable: a shining example for the success of translational transnational medical research for the benefit of patients.</p>","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"638-650"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11286710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141163043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-06-03DOI: 10.1007/s00104-024-02095-w
Carolina Vogel, Marie K Reumann, Maximilian M Menger, Steven C Herath, Mika F R Rollmann, Henrik Lauer, Tina Histing, Benedikt J Braun
The diagnosis and treatment of non-unions still represents an interdisciplinary challenge. Therefore, prevention, early detection and specific treatment are of great importance. Non-unions of the upper extremities, although less common than that of the lower extremities, requires special attention for successful treatment due to the central role of the shoulder girdle and arm in day to day activities. Successful treatment of non-unions requires a comprehensive evaluation of the patient's medical history, a thorough clinical examination and in particular radiological imaging. In order to effectively treat the pseudarthrosis it is crucial to distinguish between pseudarthroses that are suspected to be due to infections and those that are not. This article presents a treatment algorithm for managing both pseudarthrosis due to infection and pseudarthrosis without infection in the upper extremities.
{"title":"[Non-unions of the upper extremities].","authors":"Carolina Vogel, Marie K Reumann, Maximilian M Menger, Steven C Herath, Mika F R Rollmann, Henrik Lauer, Tina Histing, Benedikt J Braun","doi":"10.1007/s00104-024-02095-w","DOIUrl":"10.1007/s00104-024-02095-w","url":null,"abstract":"<p><p>The diagnosis and treatment of non-unions still represents an interdisciplinary challenge. Therefore, prevention, early detection and specific treatment are of great importance. Non-unions of the upper extremities, although less common than that of the lower extremities, requires special attention for successful treatment due to the central role of the shoulder girdle and arm in day to day activities. Successful treatment of non-unions requires a comprehensive evaluation of the patient's medical history, a thorough clinical examination and in particular radiological imaging. In order to effectively treat the pseudarthrosis it is crucial to distinguish between pseudarthroses that are suspected to be due to infections and those that are not. This article presents a treatment algorithm for managing both pseudarthrosis due to infection and pseudarthrosis without infection in the upper extremities.</p>","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"671-682"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-07-16DOI: 10.1007/s00104-024-02127-5
Ioannis Mintziras, Detlef K Bartsch
{"title":"[Effects of parathyroidectomy in comparison to pharmacotherapy of secondary hyperparathyroidism: a meta-analysis].","authors":"Ioannis Mintziras, Detlef K Bartsch","doi":"10.1007/s00104-024-02127-5","DOIUrl":"10.1007/s00104-024-02127-5","url":null,"abstract":"","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"663-664"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-06-12DOI: 10.1007/s00104-024-02116-8
Martina Koch
The interdisciplinary additional advanced training in transplantation medicine (ZWB) has been passed with the (Model) Advanced Training Regulation 2018 and is now implemented in all federal states. It includes joint interdisciplinary contents that must be mastered by all disciplines and special skills that are specific to the individual disciplines. An organ-specific training is also possible. With its interdisciplinary approach the ZWB transplantation certification is pioneering the structure of modern transplantation centers and will thus further improve the quality of treatment for patients on the waiting lists for organ transplantation and for patients with transplanted organs.
{"title":"[The National German Transplantation Certification : Interdisciplinary and innovative].","authors":"Martina Koch","doi":"10.1007/s00104-024-02116-8","DOIUrl":"10.1007/s00104-024-02116-8","url":null,"abstract":"<p><p>The interdisciplinary additional advanced training in transplantation medicine (ZWB) has been passed with the (Model) Advanced Training Regulation 2018 and is now implemented in all federal states. It includes joint interdisciplinary contents that must be mastered by all disciplines and special skills that are specific to the individual disciplines. An organ-specific training is also possible. With its interdisciplinary approach the ZWB transplantation certification is pioneering the structure of modern transplantation centers and will thus further improve the quality of treatment for patients on the waiting lists for organ transplantation and for patients with transplanted organs.</p>","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"627-631"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-01Epub Date: 2024-05-22DOI: 10.1007/s00104-024-02103-z
Christian Jurowich, André Prock, Jörg Filser
The positioning-related compartment syndrome is a well-known rare but absolutely avoidable event and is therefore often the subject of legal disputes. That is why medical personnel need to have detailed knowledge of the causes, pathophysiology, treatment and above all prevention.
{"title":"[Positioning-related compartment syndrome in operative medicine].","authors":"Christian Jurowich, André Prock, Jörg Filser","doi":"10.1007/s00104-024-02103-z","DOIUrl":"10.1007/s00104-024-02103-z","url":null,"abstract":"<p><p>The positioning-related compartment syndrome is a well-known rare but absolutely avoidable event and is therefore often the subject of legal disputes. That is why medical personnel need to have detailed knowledge of the causes, pathophysiology, treatment and above all prevention.</p>","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"526-528"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-01Epub Date: 2024-05-24DOI: 10.1007/s00104-024-02112-y
Patrick Sven Plum, Matthias Mehdorn, Ines Gockel
{"title":"[Use of robotic surgery for emergency procedures in general surgery].","authors":"Patrick Sven Plum, Matthias Mehdorn, Ines Gockel","doi":"10.1007/s00104-024-02112-y","DOIUrl":"10.1007/s00104-024-02112-y","url":null,"abstract":"","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"583-584"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-01Epub Date: 2024-05-02DOI: 10.1007/s00104-024-02088-9
Sven Flemming
Colorectal cancer is one of the most frequent cancerous diseases in industrial nations, whereby tumors of the rectum constitute approximately 30-40% of all colorectal cancers. In addition to the implementation and establishment of novel neoadjuvant concepts for the treatment of rectal cancer, there has been a continuous evolution of surgical techniques in recent years towards minimally invasive surgery. In this respect robot-assisted surgery has become more and more popular despite seemingly weak evidence regarding clinical benefits and the not to be ignored economic aspects; however, recently published high-quality studies provide new evidence showing advantages for a robotic resection in patients suffering from rectal cancer. Thus, the progressive implementation of robotic surgical systems is increasingly attaining a scientific foundation.
{"title":"[Robotic rectal surgery].","authors":"Sven Flemming","doi":"10.1007/s00104-024-02088-9","DOIUrl":"10.1007/s00104-024-02088-9","url":null,"abstract":"<p><p>Colorectal cancer is one of the most frequent cancerous diseases in industrial nations, whereby tumors of the rectum constitute approximately 30-40% of all colorectal cancers. In addition to the implementation and establishment of novel neoadjuvant concepts for the treatment of rectal cancer, there has been a continuous evolution of surgical techniques in recent years towards minimally invasive surgery. In this respect robot-assisted surgery has become more and more popular despite seemingly weak evidence regarding clinical benefits and the not to be ignored economic aspects; however, recently published high-quality studies provide new evidence showing advantages for a robotic resection in patients suffering from rectal cancer. Thus, the progressive implementation of robotic surgical systems is increasingly attaining a scientific foundation.</p>","PeriodicalId":72588,"journal":{"name":"Chirurgie (Heidelberg, Germany)","volume":" ","pages":"589-599"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}