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Widening role of multidisciplinary treatment for rectal cancer: toward diversity of cancer care 扩大直肠癌症多学科治疗的作用:实现癌症治疗的多样性
IF 0.5 Pub Date : 2021-12-27 DOI: 10.23838/pfm.2021.00191
Y. Cho
Advances in treatment modalities, including systemic therapy, local therapy, and technical development, have substantially improved survival rates in patients with colorectal cancer [1]. In addition, the rate of colorectal cancer diagnosis before 50 years of age has been increasing over the past two decades [2]. The number of cancer survivors who suffer from chronic morbidities that impair their quality of life has also increased and will continue growing. Therefore, precision medicine in the era of rectal cancer management aims to provide curative-intent treatment based on tumor characteristics and preserve the quality of life, especially bowel function with sphincter preservation or rectum sparing. Functional derangement was considerably significant after radical resection of rectal cancer. Abdominoperineal resection results in a colossal lifestyle change, and surgeons have attempted to preserve the sphincter. However, several patients experience bowel dysfunction even after sphincter preservation, which constitutes a series of symptoms. Although researchers have suggested various methods for evaluating and managing bowel dysfunction after rectal cancer surgery, treatment strategies need to be established. Therefore, endoscopic removal or local excision has been widely accepted for early rectal cancer treatment, as oncologic outcomes are comparable to those after radical resection. Even in patients with advanced rectal cancer, neoadjuvant chemoradiotherapy resulted in complete tumor regression in a subset of patients, which led us to consider deferral surgery. Watch-andwait (WW) strategies have continuously gained approval in the Asia-Pacific region and Western countries [3]. Proper patient selection is critical for the organ-preserving strategies mentioned above. In this issue of Precision and Future Medicine, three review articles have been published on rectal cancer management, in which interest has increased. Park and Baik [4] reviewed functional assessment methods and various treatments for bowel dysfunction. A series of symptoms associated with postoperative bowel dysfunction was typically called “low anterior resection syndrome (LARS).” Although different scoring systems have been proposed, each affords advantages and drawbacks. The LARS score questionnaire is a widely used tool. Young age, low anastomosis level, anastomotic leakage, and radiotherapy were related to the occurrence of LARS. Medical management, pelvic floor rehabilitation, and sacral nerve stimulation have been suggested for treating LARS. The authors also documented urinary and sexual dysfunctions, as reported in 20% to 40% of patients who undergo rectal cancer surgery. The authors concluded that surgeons should carefully perform sphincter-preserving rectal cancer surgery to ensure functional recovery of the remnant bowel and improve urologic and sexual Received: December 22, 2021 Revised: December 24, 2021 Accepted: December 24, 2021
治疗方式的进步,包括全身治疗、局部治疗和技术发展,已显著提高癌症患者的生存率[1]。此外,在过去二十年中,50岁之前诊断为结直肠癌癌症的比率一直在增加[2]。患有损害生活质量的慢性病的癌症幸存者人数也在增加,并将继续增加。因此,直肠癌症管理时代的精准医疗旨在根据肿瘤特征提供有针对性的治疗,并保持生活质量,尤其是保留括约肌或保留直肠的肠道功能。癌症直肠癌根治术后功能紊乱显著。腹部切除术带来了巨大的生活方式改变,外科医生试图保留括约肌。然而,一些患者即使在括约肌保存后也会出现肠功能障碍,这构成了一系列症状。尽管研究人员提出了各种方法来评估和管理直肠癌症手术后的肠道功能障碍,但仍需制定治疗策略。因此,内窥镜切除或局部切除已被广泛接受用于早期直肠癌症治疗,因为肿瘤学结果与根治性切除后的结果相当。即使在晚期癌症患者中,新辅助放化疗也会导致一部分患者的肿瘤完全消退,这促使我们考虑推迟手术。观望(WW)策略在亚太地区和西方国家不断获得批准[3]。正确的患者选择对于上述器官保存策略至关重要。在本期《精准与未来医学》杂志上,发表了三篇关于直肠癌症管理的评论文章,人们对这篇文章的兴趣有所增加。Park和Baik[4]综述了肠功能障碍的功能评估方法和各种治疗方法。与术后肠功能障碍相关的一系列症状通常被称为“低位前切除综合征(LARS)”。尽管已经提出了不同的评分系统,但每种评分系统都有优点和缺点。LARS评分问卷是一种广泛使用的工具。年龄小、吻合口水平低、吻合口瘘和放疗与LARS的发生有关。医学治疗、盆底康复和骶神经刺激已被建议用于治疗LARS。作者还记录了20%至40%接受癌症直肠手术的患者的泌尿和性功能障碍。作者得出结论,外科医生应仔细进行保留乳头括约肌的直肠癌症手术,以确保残余肠道的功能恢复并改善泌尿系统和性功能接收日期:2021年12月22日修订日期:2021月24日接受日期:2021年12月24日
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引用次数: 0
Watch and wait strategies for rectal cancer A systematic review 癌症观察和等待策略的系统评价
IF 0.5 Pub Date : 2021-12-27 DOI: 10.23838/pfm.2021.00177
I. Park
Watch and wait (WW) strategies have been suggested for patients with clinical complete regression (cCR). The WW approach was first introduced by Habr–Gama in patients with cCR after neoadjuvant treatment. Actually, it is not “no surgery” but “deferral of surgery;” therefore, the WW approach or non-operative management is a representative term currently. The number of publications regarding WW for rectal cancer has increased abruptly. We conducted a systematic review of PubMed for literature published on WW. It is now one of the most interesting issues in rectal cancer treatment. Many studies have reported comparable overall survival with WW and radical resection. However, a high local regrowth rate is a problem, and proper salvage management is the main concern in the WW approach. Adequate patient selection is necessary to achieve favorable oncologic outcomes. However, the appropriate definition and diagnostic method for cCR have not yet been clearly defined. Indeed, advances in local control have not translated into overall survival improvement, and many efforts have been made to improve distant metastasis control and overall survival and improve clinical response to preoperative chemoradiotherapy. In this review, oncologic outcomes, ongoing efforts to improve oncologic outcomes, and limitations for clinical practice were evaluated and described.
观察和等待(WW)策略已被建议用于临床完全回归(cCR)患者。Habr–Gama首次在新辅助治疗后的cCR患者中引入WW方法。实际上,它不是“不手术”,而是“推迟手术”;因此,WW方法或非手术管理是目前的一个代表性术语。关于直肠癌症WW的出版物数量急剧增加。我们对PubMed在WW上发表的文献进行了系统综述。这是目前癌症直肠治疗中最有趣的问题之一。许多研究报告WW和根治性切除术的总生存率相当。然而,高的局部再生率是一个问题,适当的打捞管理是WW方法中主要关注的问题。为了获得良好的肿瘤学结果,需要充分选择患者。然而,cCR的适当定义和诊断方法尚未明确定义。事实上,局部控制的进展并没有转化为总体生存率的提高,已经做出了许多努力来提高远处转移的控制和总体生存率,并提高对术前放化疗的临床反应。在这篇综述中,对肿瘤学结果、正在进行的改善肿瘤学结果的努力以及临床实践的局限性进行了评估和描述。
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引用次数: 1
Monogenic diabetes mellitus and clinical implications of genetic diagnosis 单基因糖尿病及其基因诊断的临床意义
IF 0.5 Pub Date : 2021-09-30 DOI: 10.23838/pfm.2021.00100
Eungu Kang, Lindsey Yoojin Chung, Yu Jin Kim, Kyung Eun Oh, Y. Rhie
Monogenic diabetes mellitus, which is diabetes caused by a defect in a single gene that is associated with β cell function or insulin action, accounts for 1% to 6% of all pediatric diabetes cases. Accurate diagnosis is important, as the effective treatment differs according to genetic etiology in some types of monogenic diabetes: high-dose sulfonylurea treatment in neonatal diabetes caused by activating mutations in KCNJ11 or ABCC8; low-dose sulfonylurea treatment in HNF1A/HNF4A-diabetes; and no treatment in GCK diabetes. Monogenic diabetes should be suspected by clinicians for certain combinations of clinical features and laboratory results, and approximately 80% of monogenic diabetes cases are misdiagnosed as type 1 diabetes or type 2 diabetes. Here, we outline the types of monogenic diabetes and the clinical implications of genetic diagnosis.
单基因糖尿病是由与β细胞功能或胰岛素作用相关的单个基因缺陷引起的糖尿病,占所有儿科糖尿病病例的1%至6%。准确的诊断是很重要的,因为在某些类型的单基因糖尿病中,根据遗传病因的不同,有效的治疗方法是不同的:高剂量磺脲治疗由KCNJ11或ABCC8激活突变引起的新生儿糖尿病;低剂量磺脲治疗HNF1A/ hnf4a型糖尿病;对GCK型糖尿病没有治疗。临床医生应该对单基因糖尿病的某些临床特征和实验室结果进行怀疑,大约80%的单基因糖尿病病例被误诊为1型糖尿病或2型糖尿病。在这里,我们概述了单基因糖尿病的类型和基因诊断的临床意义。
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引用次数: 1
Genetic etiologies of central precocious puberty 中枢性性早熟的遗传病因
IF 0.5 Pub Date : 2021-09-30 DOI: 10.23838/pfm.2021.00107
Hae-sang Lee
Pubertal onset is a complex process, which is influenced by genetic and environmental factors, such as obesity and endocrine-disrupting chemicals. In addition, the timing of normal puberty varies between individuals and is a highly polygenic trait with both rare and common variants. Central precocious puberty (CPP) is defined as the early activation of the hypothalamic-pituitary-gonadal axis. Genetic factors are suggested to account for 50% to 80% of the variation in puberty initiation, as indicated by the greater concordance of pubertal timing observed in monozygotic twins than in dizygotic twins. Although genetic factors play a crucial role in CPP development, only few associated genes have been identified. To date, four monogenic genes have been identified: KISS1, KISS1R, MKRN3, and DLK1. Moreover, mutation prevalence in these genes varies considerably depending on the ethnicity of patients with CPP. This article reviews the current knowledge on the normal pubertal timing and physiology and discusses the CPP-causing genes.
青春期发病是一个复杂的过程,受到遗传和环境因素的影响,如肥胖和内分泌干扰化学物质。此外,正常青春期的时间因个体而异,是一种高度多基因的特征,既有罕见的也有常见的变异。中枢性早熟(CPP)被定义为下丘脑-垂体-性腺轴的早期激活。遗传因素被认为是青春期开始变化的50%至80%,这表明单卵双胞胎的青春期时间比双卵双胞胎的更一致。尽管遗传因素在CPP的发展中起着至关重要的作用,但只有少数相关基因被鉴定出来。到目前为止,已经鉴定出四个单基因基因:KISS1、KISS1R、MKRN3和DLK1。此外,这些基因的突变发生率因CPP患者的种族而异。本文综述了目前对青春期正常时间和生理的认识,并讨论了CPP的致病基因。
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引用次数: 2
Do we need more genetic counselling in pediatric endocrine diseases? 儿童内分泌疾病是否需要更多的遗传咨询?
IF 0.5 Pub Date : 2021-09-30 DOI: 10.23838/pfm.2021.00121
E. Rhee
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引用次数: 0
Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects 先天性促性腺功能减退症:从临床特征到遗传因素
IF 0.5 Pub Date : 2021-09-30 DOI: 10.23838/pfm.2021.00093
A. Kwon, Ho-Seong Kim
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic-pituitary-gonadal (HPG) axis, which is a key factor in pubertal development and reproductive function completion. However, since the development of sexual characteristics and reproduction begins in the prenatal period and is very complex and delicate, the clinical characteristics and involved genes are very diverse. In particular, the HPG axis is activated three times in a lifetime, and the symptoms and biochemical findings of CHH vary by period. In addition, related genes also vary according to the formation and activation process of the HPG axis. In this review, the clinical characteristics and treatment of CHH according to HPG axis activation and different developmental periods are reviewed, and the related genes are summarized according to their pathological mechanisms.
先天性促性腺功能减退症(CHH)是一种罕见的由促性腺激素释放激素(GnRH)缺乏引起的疾病。CHH的特征是青春期延迟和/或不孕;这是因为GnRH是下丘脑-垂体-性腺(HPG)轴的主要成分,是青春期发育和生殖功能完成的关键因素。然而,由于性特征和生殖的发展始于产前,并且非常复杂和微妙,因此临床特征和相关基因非常多样。特别是,HPG轴在一生中被激活三次,CHH的症状和生化结果因时期而异。此外,相关基因也随着HPG轴的形成和激活过程而变化。本文根据HPG轴激活和不同发育时期对CHH的临床特征和治疗进行了综述,并根据其病理机制对相关基因进行了综述。
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引用次数: 2
Infiltrative invasion of the diaphragm: an uncommon manifestation of recurrent hepatocellular carcinoma 浸润性横膈膜侵犯:复发性肝细胞癌的罕见表现
IF 0.5 Pub Date : 2021-08-27 DOI: 10.23838/pfm.2021.00086
C. Kim, K. D. Song, Jung Han Woo
Purpose: To report on infiltrative invasion of the diaphragm, an uncommon manifestation of recurrent hepatocellular carcinoma (HCC), and evaluate its clinical significance. Methods: Using the term “diaphragm” or “diaphragmatic” and “invasion” or “involvement,” we searched for patients in the database of radiologic reports of liver computed tomography or magnetic resonance imaging performed between 2012 and 2016 at our institution. Nine patients with infiltrative invasion of the diaphragm due to recurrent HCC were included. Their clinical and imaging findings were evaluated. Results: The median age of patients at the time of diagnosis was 68 years (range, 40 to 73). There were eight men and one woman. Imaging findings of infiltrative invasion of the diaphragm revealed diffuse thickening with enhancement involving a part of the diaphragm. The median interval between initial manifestation on imaging and radiologic diagnosis of infiltrative invasion of the diaphragm was 6.8 months (range, 3.4 to 18.6). In two of three patients who underwent surgical resection, tumors of the diaphragm were controlled without recurrence. In six patients except for one patient who was not followed up, tumors recurred at the resection site or diaphragm tumors showed a partial response or disease progression. Conclusion: Infiltrative invasion of the diaphragm by recurrent HCC manifested with diffuse thickening and diaphragm enhancement on radiologic imaging. A good prognosis can be expected only in patients who are diagnosed early and undergo surgical resection.
目的:报道复发性肝细胞癌(HCC)的一种罕见表现——膈肌浸润性侵犯,并评价其临床意义。方法:使用术语“横膈膜”或“横膈膜”和“侵犯”或“受累”,我们检索了2012年至2016年在我院进行肝脏计算机断层扫描或磁共振成像的放射学报告数据库中的患者。本组包括9例因肝癌复发而浸润性侵犯膈肌的患者。评估他们的临床和影像学表现。结果:患者诊断时的中位年龄为68岁(范围40 ~ 73岁)。有八男一女。横膈膜浸润性侵的影像学表现为横膈膜部分弥漫性增厚及增强。浸润性横膈膜浸润性侵的影像学表现与影像学诊断的中位间隔为6.8个月(范围3.4 ~ 18.6)。在三名接受手术切除的患者中,有两名膈肿瘤得到控制,没有复发。除1例患者未随访外,其余6例患者肿瘤在切除部位复发或膈膜肿瘤出现部分反应或疾病进展。结论:复发性肝癌浸润性侵膈,影像学表现为弥漫性增厚和膈强化。只有在早期诊断并进行手术切除的患者才能获得良好的预后。
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引用次数: 0
The therapeutic approaches in children and adolescent with Tourette’s disorder 儿童和青少年抽动秽语障碍的治疗方法
IF 0.5 Pub Date : 2021-03-02 DOI: 10.23838/PFM.2020.00191
Y. Joung, Moon-Soo Lee
A tic is a sudden, rapid, recurrent, and nonrhythmic motor movement and vocalization. In Tourette’s disorder (TD), the tics may wax and wane in frequency and severity but persist for more than one year since the first tic onset. TD may have a high spontaneous remission rate. However, in some patients, tic symptoms persist even after adulthood. Since tic symptoms develop from a very young age and have wax and wane patterns during the development period, uncontrolled symptoms can cause both subjective dis-tress and functional disability in activities of daily living. Even if psychoeducation and behavioral therapy are considered first, the treatment is determined by considering various factors such as severity of symptoms, subjective distress, physical pain, and functional impairment caused by symptoms. In addition to the antipsychotics that have been used so far, several drugs have recently been tried based on the pathogenesis hy-pothesis, and the evidence for treatment effects is increasing. This article reviewed pos-sible interventions with proven evidence of TD, including psychopharmacologic treatment.
抽搐是一种突然的、快速的、反复出现的、无节奏的运动和发声。在抽动秽语症(TD)中,抽搐的频率和严重程度可能会忽高忽低,但自首次抽搐发作以来持续一年以上。TD可能具有较高的自发缓解率。然而,在一些患者中,抽搐症状甚至在成年后仍然存在。由于抽动症症状从很小的时候就开始发展,在发展过程中有起有落,不受控制的症状会导致日常生活活动中的主观压力和功能残疾。即使首先考虑心理教育和行为治疗,治疗也要考虑各种因素,如症状的严重程度、主观痛苦、身体疼痛和症状引起的功能损害。除了迄今为止已经使用的抗精神病药物外,最近还尝试了几种基于发病机制的药物,并且治疗效果的证据越来越多。本文综述了已证实TD证据的可能干预措施,包括心理药物治疗。
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引用次数: 1
Non-thrombotic ischemic cerebrovascular events related to the use of tyrosine kinase inhibitors in patients with cancer: high-resolution magnetic resonance imaging findings 与癌症患者使用酪氨酸激酶抑制剂相关的非血栓性缺血性脑血管事件:高分辨率磁共振成像结果
IF 0.5 Pub Date : 2021-01-01 DOI: 10.23838/pfm.2021.00072
J. Sim, J. Park, O. Bang
The targeted cancer therapies that have been introduced in recent years are directed against cancer-specific molecules and signaling pathways, and thus, they have limited nonspecific toxicities. However, major vascular events, including stroke, are common in patients receiving tyrosine kinase inhibitors (TKIs). Inhibition of vascular endothelial growth factor receptor by some TKIs probably explains such events. Moreover, venous and arterial thromboses, atherosclerosis, and bleeding have been reported. Ischemic lesions can also occur due to impaired angiogenesis or endothelial dysfunction. However, the exact mechanisms of arterial stroke in patients with cancer receiving TKIs are unknown. Here, we have report two cases of non-thrombotic ischemic cerebrovascular events related to TKIs and described the high-resolution magnetic resonance imaging findings.
近年来引入的靶向癌症治疗是针对癌症特异性分子和信号通路的,因此它们具有有限的非特异性毒性。然而,主要血管事件,包括中风,在接受酪氨酸激酶抑制剂(TKIs)的患者中很常见。一些TKIs对血管内皮生长因子受体的抑制可能解释了这些事件。此外,静脉和动脉血栓形成、动脉粥样硬化和出血也有报道。缺血性病变也可能由于血管生成受损或内皮功能障碍而发生。然而,接受tki治疗的癌症患者动脉卒中的确切机制尚不清楚。在这里,我们报告了两例与TKIs相关的非血栓性缺血性脑血管事件,并描述了高分辨率磁共振成像结果。
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引用次数: 1
Predictive value of chest computed tomography for axillary lymph node metastasis in patients with breast cancer 胸部计算机断层扫描对乳腺癌腋窝淋巴结转移的预测价值
IF 0.5 Pub Date : 2021-01-01 DOI: 10.23838/pfm.2021.00079
C. Kim, M. Chung, S. Chong
Purpose: This study aimed to evaluate the predictive value of preoperative chest computed tomography (CT) for axillary lymph node (ALN) metastasis in patients with breast cancer. Methods: CT features of ALNs were retrospectively reviewed in 212 patients with breast cancer who underwent preoperative chest CT examination and ALN dissection. Primary tumor size and CT characteristics of ALNs (cortical thickness, cortical shape, the presence or absence of contrast enhancement of ALNs, and the presence or absence of perinodal infiltration) were recorded and analyzed. A nomogram was developed to visualize the associations between the predictors and each ALN status endpoint. Results: Of 212 patients, 95 (44.8%) had ALN metastasis. Primary tumor size and CT characteristics of ALNs were identified as predictors of ALN metastasis. The nomogram comprising primary tumor size and cortical shape was a good validation model for predicting ALN metastasis. The sensitivity, specificity, and accuracy of the nomogram for predicting ALN metastasis were 88.4%, 79.5%, and 83.5%, respectively. Conclusion: Using preoperative chest CT scans, a nomogram combining the cortical shape of ALNs with the primary tumor size showed good performance in predicting ALN metastasis.
目的:探讨术前胸部计算机断层扫描(CT)对乳腺癌腋窝淋巴结(ALN)转移的预测价值。方法:回顾性分析212例乳腺癌患者术前行胸部CT检查及ALN剥离的CT表现。记录并分析原发肿瘤大小及ALNs的CT特征(皮质厚度、皮质形态、有无ALNs对比增强、有无淋巴结周围浸润)。开发了一个nomogram来可视化预测因子和每个ALN状态端点之间的关联。结果:212例患者中有95例(44.8%)发生ALN转移。原发肿瘤大小和CT特征被确定为ALN转移的预测因素。包括原发肿瘤大小和皮质形状的nomogram是预测ALN转移的一个很好的验证模型。nomogram预测ALN转移的敏感性、特异性和准确性分别为88.4%、79.5%和83.5%。结论:术前胸部CT扫描,结合ALN皮质形态和原发肿瘤大小的nomogram预测ALN转移的效果较好。
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引用次数: 0
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Precision and Future Medicine
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