首页 > 最新文献

Journal of Clinical Imaging Science最新文献

英文 中文
Atlanto-occipital assimilation: A pictorial review of a commonly missed pathology 寰枕同形:常见漏诊病症的图解回顾
Pub Date : 2024-07-10 DOI: 10.25259/jcis_42_2024
Ho Nam Ho, Hatty Hoi Ting Chau, Nin Yuan Pan, Bill Archie Lo
Atlanto-occipital assimilation is a congenital craniovertebral junction malformation where the partial or complete fusion of the atlas and occiput occurs. Atlanto-occipital assimilation can be associated with numerous complications, including basilar invagination, atlantoaxial subluxation, Chiari malformation, congenital vertebral bodies fusion, and cord compression. As a result, vigilant identification and accurate reporting of atlanto-occipital assimilation are essential. The purpose of this review article is to discuss the numerous complications and associations of atlanto-occipital assimilation, such that an accurate diagnosis could be made for this commonly missed pathology.
寰枕同位是一种先天性颅椎交界畸形,即寰枕部分或完全融合。寰枕同位可引起多种并发症,包括基底内陷、寰椎脱位、Chiari畸形、先天性椎体融合和脊髓压迫。因此,警惕识别和准确报告寰枕同位至关重要。本综述文章旨在讨论寰枕同位的众多并发症和关联性,以便对这种常见的漏诊病症做出准确诊断。
{"title":"Atlanto-occipital assimilation: A pictorial review of a commonly missed pathology","authors":"Ho Nam Ho, Hatty Hoi Ting Chau, Nin Yuan Pan, Bill Archie Lo","doi":"10.25259/jcis_42_2024","DOIUrl":"https://doi.org/10.25259/jcis_42_2024","url":null,"abstract":"Atlanto-occipital assimilation is a congenital craniovertebral junction malformation where the partial or complete fusion of the atlas and occiput occurs. Atlanto-occipital assimilation can be associated with numerous complications, including basilar invagination, atlantoaxial subluxation, Chiari malformation, congenital vertebral bodies fusion, and cord compression. As a result, vigilant identification and accurate reporting of atlanto-occipital assimilation are essential. The purpose of this review article is to discuss the numerous complications and associations of atlanto-occipital assimilation, such that an accurate diagnosis could be made for this commonly missed pathology.","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":"23 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141658939","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}
引用次数: 0
Glomus jugulotympanicum tumor treated with radiation therapy: A case report with review of literature 用放射疗法治疗的颈静脉鼓室肿瘤:病例报告与文献综述
Pub Date : 2024-05-11 DOI: 10.25259/jcis_17_2024
Aria Shakeri, Anthony Portanova, H. Sakano, Deepinder Pal Singh
Glomus tumors (or paragangliomas) are rare, benign tumors of neuroendocrine origin that appear in tissues of paraganglionic origin. This clinical entity poses a significant treatment challenge due to its proximity to critical neurovascular structures, thus the potential of morbid functional damage caused by disease progression and/or treatment approach. While surgery remains the standard of care for such cases, there has been an increasing trend toward management with radiotherapy or close observation. Here, we present a case of a large and irregularly shaped glomus jugulotympanicum tumor that was treated with volumetric arc radiotherapy. Given the risk of cranial neuropathy with surgery, radiation was the preferred treatment modality. This case demonstrated the safety and efficacy of volumetric arc radiotherapy in the management of a large glomus tumor with a complex shape.
绒毛膜肿瘤(或副神经节瘤)是一种罕见的神经内分泌源性良性肿瘤,出现在副神经节起源的组织中。由于该肿瘤靠近重要的神经血管结构,因此疾病进展和/或治疗方法可能会造成病态的功能损伤,这给临床治疗带来了巨大挑战。虽然手术仍是此类病例的标准治疗方法,但采用放疗或密切观察进行治疗的趋势日益明显。在此,我们介绍了一例采用容积弧形放射治疗的巨大且形状不规则的壶腹部神经胶质瘤病例。考虑到手术可能导致颅神经病变,放射治疗成为首选治疗方式。该病例证明了容积弧形放射疗法在治疗形状复杂的巨大神经胶质瘤方面的安全性和有效性。
{"title":"Glomus jugulotympanicum tumor treated with radiation therapy: A case report with review of literature","authors":"Aria Shakeri, Anthony Portanova, H. Sakano, Deepinder Pal Singh","doi":"10.25259/jcis_17_2024","DOIUrl":"https://doi.org/10.25259/jcis_17_2024","url":null,"abstract":"Glomus tumors (or paragangliomas) are rare, benign tumors of neuroendocrine origin that appear in tissues of paraganglionic origin. This clinical entity poses a significant treatment challenge due to its proximity to critical neurovascular structures, thus the potential of morbid functional damage caused by disease progression and/or treatment approach. While surgery remains the standard of care for such cases, there has been an increasing trend toward management with radiotherapy or close observation. Here, we present a case of a large and irregularly shaped glomus jugulotympanicum tumor that was treated with volumetric arc radiotherapy. Given the risk of cranial neuropathy with surgery, radiation was the preferred treatment modality. This case demonstrated the safety and efficacy of volumetric arc radiotherapy in the management of a large glomus tumor with a complex shape.","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140988747","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}
引用次数: 0
Percutaneous microwave ablation for early-stage intrahepatic cholangiocarcinoma: A single-institutional cohort 早期肝内胆管癌的经皮微波消融术:单一机构队列研究
Pub Date : 2024-02-13 DOI: 10.25259/jcis_59_2023
Sophia Humphrey, Jack B. Newcomer, D. Raissi, G. Gabriel
Cholangiocarcinoma (CCA) is the second-most common primary hepatic malignancy with an increasing incidence over the past two decades. CCA arises from the epithelial cells lining the bile ducts and can be classified as intrahepatic, perihilar, or distal based on the site of origin in the biliary tree. Surgical resection is the definitive curative therapy for early-stage intrahepatic CCA; however, only a minority of patients may be ideal surgical candidates. Percutaneous microwave ablation (MWA) is a minimally invasive procedure widely used for hepatocellular carcinoma and colorectal cancer metastases to the liver. Growing evidence suggests MWA can play a role in the management of patients with early-stage intrahepatic CCA. In this study, we aim to describe the safety and efficacy of MWA for the management of intrahepatic CCA.A retrospective review of patients with intrahepatic CCA treated with MWA at our tertiary referral medical center was performed. Eight patients were treated between 2014 and 2019. Diagnosis of CCA was made based on histopathological studies of samples obtained by surgical resection or percutaneous liver biopsy. All procedures were performed under computed tomography (CT) guidance using a high-power single antenna MWA system. General anesthesia was used for all procedures. Patient medical history, procedural technical information, outcomes, and follow-up data were reviewed. Progression-free survival was estimated with a Kaplan–Meier curve.A total of 25 tumors with an average size of 2.2 ± 1.7 cm (range 0.5–7.8) were treated with MWA. Our cohort consisted of eight patients (4 males and 4 females) with an average age of 69.3 ± 5.7 years (range 61–79). Three out of eight (3/8, 37.5%) patients were treated initially with surgical resection. NASH-related cirrhosis was documented in 3/8 (37.5%) patients, while 1/8 (12.5%) had alcoholic cirrhosis; the remaining 4 patients (4/8, 50%) did not have cirrhosis. All patients were discharged within 24 h after ablation. Average total follow-up time was 10.6 ± 11.8 months (range 0–41). The incomplete ablation rate and local recurrence rate were 4% (1/25 lesions) and 12% (3/25 lesions), respectively.In patients who do not qualify for surgical resection, MWA is a safe alternative therapy for the treatment of intrahepatic CCA.
胆管癌(CCA)是第二大最常见的原发性肝脏恶性肿瘤,在过去二十年中发病率不断上升。CCA 来源于胆管内壁的上皮细胞,根据起源于胆管树的部位可分为肝内癌、肝周癌和远端癌。手术切除是早期肝内 CCA 的最终根治疗法;然而,只有少数患者可能是理想的手术人选。经皮微波消融术(MWA)是一种微创手术,广泛用于治疗肝细胞癌和结肠直肠癌肝转移。越来越多的证据表明,微波消融术可在早期肝内 CCA 患者的治疗中发挥作用。在本研究中,我们旨在描述MWA治疗肝内CCA的安全性和有效性。我们对在我们的三级转诊医疗中心接受MWA治疗的肝内CCA患者进行了回顾性回顾。8名患者在2014年至2019年间接受了治疗。CCA的诊断基于手术切除或经皮肝活检所获样本的组织病理学研究。所有手术均在计算机断层扫描(CT)引导下使用高功率单天线 MWA 系统进行。所有手术均采用全身麻醉。对患者病史、手术技术信息、结果和随访数据进行了回顾。共有 25 个平均大小为 2.2 ± 1.7 厘米(0.5-7.8 厘米)的肿瘤接受了 MWA 治疗。我们的队列中有 8 名患者(4 男 4 女),平均年龄为 69.3 ± 5.7 岁(61-79 岁不等)。八名患者中有三名(3/8,37.5%)最初接受了手术切除治疗。3/8(37.5%)名患者患有 NASH 相关性肝硬化,1/8(12.5%)名患者患有酒精性肝硬化;其余 4 名患者(4/8,50%)没有肝硬化。所有患者均在消融术后 24 小时内出院。平均总随访时间为 10.6 ± 11.8 个月(0-41 个月)。不完全消融率和局部复发率分别为 4%(1/25 个病灶)和 12%(3/25 个病灶)。
{"title":"Percutaneous microwave ablation for early-stage intrahepatic cholangiocarcinoma: A single-institutional cohort","authors":"Sophia Humphrey, Jack B. Newcomer, D. Raissi, G. Gabriel","doi":"10.25259/jcis_59_2023","DOIUrl":"https://doi.org/10.25259/jcis_59_2023","url":null,"abstract":"\u0000\u0000Cholangiocarcinoma (CCA) is the second-most common primary hepatic malignancy with an increasing incidence over the past two decades. CCA arises from the epithelial cells lining the bile ducts and can be classified as intrahepatic, perihilar, or distal based on the site of origin in the biliary tree. Surgical resection is the definitive curative therapy for early-stage intrahepatic CCA; however, only a minority of patients may be ideal surgical candidates. Percutaneous microwave ablation (MWA) is a minimally invasive procedure widely used for hepatocellular carcinoma and colorectal cancer metastases to the liver. Growing evidence suggests MWA can play a role in the management of patients with early-stage intrahepatic CCA. In this study, we aim to describe the safety and efficacy of MWA for the management of intrahepatic CCA.\u0000\u0000\u0000\u0000A retrospective review of patients with intrahepatic CCA treated with MWA at our tertiary referral medical center was performed. Eight patients were treated between 2014 and 2019. Diagnosis of CCA was made based on histopathological studies of samples obtained by surgical resection or percutaneous liver biopsy. All procedures were performed under computed tomography (CT) guidance using a high-power single antenna MWA system. General anesthesia was used for all procedures. Patient medical history, procedural technical information, outcomes, and follow-up data were reviewed. Progression-free survival was estimated with a Kaplan–Meier curve.\u0000\u0000\u0000\u0000A total of 25 tumors with an average size of 2.2 ± 1.7 cm (range 0.5–7.8) were treated with MWA. Our cohort consisted of eight patients (4 males and 4 females) with an average age of 69.3 ± 5.7 years (range 61–79). Three out of eight (3/8, 37.5%) patients were treated initially with surgical resection. NASH-related cirrhosis was documented in 3/8 (37.5%) patients, while 1/8 (12.5%) had alcoholic cirrhosis; the remaining 4 patients (4/8, 50%) did not have cirrhosis. All patients were discharged within 24 h after ablation. Average total follow-up time was 10.6 ± 11.8 months (range 0–41). The incomplete ablation rate and local recurrence rate were 4% (1/25 lesions) and 12% (3/25 lesions), respectively.\u0000\u0000\u0000\u0000In patients who do not qualify for surgical resection, MWA is a safe alternative therapy for the treatment of intrahepatic CCA.\u0000","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":"67 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139781413","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}
引用次数: 0
Percutaneous microwave ablation for early-stage intrahepatic cholangiocarcinoma: A single-institutional cohort 早期肝内胆管癌的经皮微波消融术:单一机构队列研究
Pub Date : 2024-02-13 DOI: 10.25259/jcis_59_2023
Sophia Humphrey, Jack B. Newcomer, D. Raissi, G. Gabriel
Cholangiocarcinoma (CCA) is the second-most common primary hepatic malignancy with an increasing incidence over the past two decades. CCA arises from the epithelial cells lining the bile ducts and can be classified as intrahepatic, perihilar, or distal based on the site of origin in the biliary tree. Surgical resection is the definitive curative therapy for early-stage intrahepatic CCA; however, only a minority of patients may be ideal surgical candidates. Percutaneous microwave ablation (MWA) is a minimally invasive procedure widely used for hepatocellular carcinoma and colorectal cancer metastases to the liver. Growing evidence suggests MWA can play a role in the management of patients with early-stage intrahepatic CCA. In this study, we aim to describe the safety and efficacy of MWA for the management of intrahepatic CCA.A retrospective review of patients with intrahepatic CCA treated with MWA at our tertiary referral medical center was performed. Eight patients were treated between 2014 and 2019. Diagnosis of CCA was made based on histopathological studies of samples obtained by surgical resection or percutaneous liver biopsy. All procedures were performed under computed tomography (CT) guidance using a high-power single antenna MWA system. General anesthesia was used for all procedures. Patient medical history, procedural technical information, outcomes, and follow-up data were reviewed. Progression-free survival was estimated with a Kaplan–Meier curve.A total of 25 tumors with an average size of 2.2 ± 1.7 cm (range 0.5–7.8) were treated with MWA. Our cohort consisted of eight patients (4 males and 4 females) with an average age of 69.3 ± 5.7 years (range 61–79). Three out of eight (3/8, 37.5%) patients were treated initially with surgical resection. NASH-related cirrhosis was documented in 3/8 (37.5%) patients, while 1/8 (12.5%) had alcoholic cirrhosis; the remaining 4 patients (4/8, 50%) did not have cirrhosis. All patients were discharged within 24 h after ablation. Average total follow-up time was 10.6 ± 11.8 months (range 0–41). The incomplete ablation rate and local recurrence rate were 4% (1/25 lesions) and 12% (3/25 lesions), respectively.In patients who do not qualify for surgical resection, MWA is a safe alternative therapy for the treatment of intrahepatic CCA.
胆管癌(CCA)是第二大最常见的原发性肝脏恶性肿瘤,在过去二十年中发病率不断上升。CCA 来源于胆管内壁的上皮细胞,根据起源于胆管树的部位可分为肝内癌、肝周癌和远端癌。手术切除是早期肝内 CCA 的最终根治疗法;然而,只有少数患者可能是理想的手术人选。经皮微波消融术(MWA)是一种微创手术,广泛用于治疗肝细胞癌和结肠直肠癌肝转移。越来越多的证据表明,微波消融术可在早期肝内 CCA 患者的治疗中发挥作用。在本研究中,我们旨在描述MWA治疗肝内CCA的安全性和有效性。我们对在我们的三级转诊医疗中心接受MWA治疗的肝内CCA患者进行了回顾性回顾。8名患者在2014年至2019年间接受了治疗。CCA的诊断基于手术切除或经皮肝活检所获样本的组织病理学研究。所有手术均在计算机断层扫描(CT)引导下使用高功率单天线 MWA 系统进行。所有手术均采用全身麻醉。对患者病史、手术技术信息、结果和随访数据进行了回顾。共有 25 个平均大小为 2.2 ± 1.7 厘米(0.5-7.8 厘米)的肿瘤接受了 MWA 治疗。我们的队列中有 8 名患者(4 男 4 女),平均年龄为 69.3 ± 5.7 岁(61-79 岁不等)。八名患者中有三名(3/8,37.5%)最初接受了手术切除治疗。3/8(37.5%)名患者患有 NASH 相关性肝硬化,1/8(12.5%)名患者患有酒精性肝硬化;其余 4 名患者(4/8,50%)没有肝硬化。所有患者均在消融术后 24 小时内出院。平均总随访时间为 10.6 ± 11.8 个月(0-41 个月)。不完全消融率和局部复发率分别为 4%(1/25 个病灶)和 12%(3/25 个病灶)。
{"title":"Percutaneous microwave ablation for early-stage intrahepatic cholangiocarcinoma: A single-institutional cohort","authors":"Sophia Humphrey, Jack B. Newcomer, D. Raissi, G. Gabriel","doi":"10.25259/jcis_59_2023","DOIUrl":"https://doi.org/10.25259/jcis_59_2023","url":null,"abstract":"\u0000\u0000Cholangiocarcinoma (CCA) is the second-most common primary hepatic malignancy with an increasing incidence over the past two decades. CCA arises from the epithelial cells lining the bile ducts and can be classified as intrahepatic, perihilar, or distal based on the site of origin in the biliary tree. Surgical resection is the definitive curative therapy for early-stage intrahepatic CCA; however, only a minority of patients may be ideal surgical candidates. Percutaneous microwave ablation (MWA) is a minimally invasive procedure widely used for hepatocellular carcinoma and colorectal cancer metastases to the liver. Growing evidence suggests MWA can play a role in the management of patients with early-stage intrahepatic CCA. In this study, we aim to describe the safety and efficacy of MWA for the management of intrahepatic CCA.\u0000\u0000\u0000\u0000A retrospective review of patients with intrahepatic CCA treated with MWA at our tertiary referral medical center was performed. Eight patients were treated between 2014 and 2019. Diagnosis of CCA was made based on histopathological studies of samples obtained by surgical resection or percutaneous liver biopsy. All procedures were performed under computed tomography (CT) guidance using a high-power single antenna MWA system. General anesthesia was used for all procedures. Patient medical history, procedural technical information, outcomes, and follow-up data were reviewed. Progression-free survival was estimated with a Kaplan–Meier curve.\u0000\u0000\u0000\u0000A total of 25 tumors with an average size of 2.2 ± 1.7 cm (range 0.5–7.8) were treated with MWA. Our cohort consisted of eight patients (4 males and 4 females) with an average age of 69.3 ± 5.7 years (range 61–79). Three out of eight (3/8, 37.5%) patients were treated initially with surgical resection. NASH-related cirrhosis was documented in 3/8 (37.5%) patients, while 1/8 (12.5%) had alcoholic cirrhosis; the remaining 4 patients (4/8, 50%) did not have cirrhosis. All patients were discharged within 24 h after ablation. Average total follow-up time was 10.6 ± 11.8 months (range 0–41). The incomplete ablation rate and local recurrence rate were 4% (1/25 lesions) and 12% (3/25 lesions), respectively.\u0000\u0000\u0000\u0000In patients who do not qualify for surgical resection, MWA is a safe alternative therapy for the treatment of intrahepatic CCA.\u0000","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":"496 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139841342","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}
引用次数: 0
Emerging insights into cephalic neural crest disorders: A single center experience 对头神经嵴疾病的新认识:单中心经验
Pub Date : 2024-02-03 DOI: 10.25259/jcis_87_2023
M. Nayak, B. Mishra, Sebastian Levejoseph, Ajay Garg, Kalyan Sarma, Biswajit Sahoo, Manjari Tripathi, Shailesh B. Gaikwad
Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.
神经嵴细胞(NCCs)是脊椎动物胎儿时期的瞬时结构,发育在非神经外胚层和神经外胚层的交界处,是多种疾病的共同发育起源。神经管内的 NCC 上皮-间充质化(EMT)后,NCC 发生分层。分层后,这些细胞转变为各种细胞系,产生黑色素细胞、骨骼、颅骨软骨、肠道和周围神经系统细胞。转化后,这些细胞会根据细胞系迁移到全身的不同位置。神经嵴(NC)形成和迁移的异常会导致各种畸形和肿瘤,即所谓的神经嵴病。在此,本病例系列描述了过去 3 年中单中心在头颅神经嵴病方面的经验,包括 17 例不同组成的病例(即:血管性、遗传性、混合性)、在我们对 17 例头面部 NC 疾病患者的研究中,6 例(35.3%)患者为血管型,5 例(29.4%)为遗传障碍型,4 例(23.5%)为混合型,2 例(11.7%)为肿瘤型。所有患者(100%)的脑部受累表现为血管或实质受累,或血管和实质均受累;6 名患者(35.3%)的皮肤受累;2 名患者(11.7%)的眼部受累;1 名患者(5.9%)的面部受累。神经嵴疾病(NCDs)在文献中是一类罕见且未得到充分认识的疾病,可能是由于缺乏对该疾病的认识而导致报告不足。更多这样的报告可能会增加这些罕见疾病的病例,使临床医生能够高度怀疑,从而及早发现并及时提供咨询,还能改善预防策略,帮助开发治疗或预防这些疾病的新药。
{"title":"Emerging insights into cephalic neural crest disorders: A single center experience","authors":"M. Nayak, B. Mishra, Sebastian Levejoseph, Ajay Garg, Kalyan Sarma, Biswajit Sahoo, Manjari Tripathi, Shailesh B. Gaikwad","doi":"10.25259/jcis_87_2023","DOIUrl":"https://doi.org/10.25259/jcis_87_2023","url":null,"abstract":"\u0000\u0000Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.\u0000\u0000\u0000\u0000Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.\u0000\u0000\u0000\u0000In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.\u0000\u0000\u0000\u0000Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.\u0000","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":"56 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139868239","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}
引用次数: 0
Emerging insights into cephalic neural crest disorders: A single center experience 对头神经嵴疾病的新认识:单中心经验
Pub Date : 2024-02-03 DOI: 10.25259/jcis_87_2023
M. Nayak, B. Mishra, Sebastian Levejoseph, Ajay Garg, Kalyan Sarma, Biswajit Sahoo, Manjari Tripathi, Shailesh B. Gaikwad
Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.
神经嵴细胞(NCCs)是脊椎动物胎儿时期的瞬时结构,发育在非神经外胚层和神经外胚层的交界处,是多种疾病的共同发育起源。神经管内的 NCC 上皮-间充质化(EMT)后,NCC 发生分层。分层后,这些细胞转变为各种细胞系,产生黑色素细胞、骨骼、颅骨软骨、肠道和周围神经系统细胞。转化后,这些细胞会根据细胞系迁移到全身的不同位置。神经嵴(NC)形成和迁移的异常会导致各种畸形和肿瘤,即所谓的神经嵴病。在此,本病例系列描述了过去 3 年中单中心在头颅神经嵴病方面的经验,包括 17 例不同组成的病例(即:血管性、遗传性、混合性)、在我们对 17 例头面部 NC 疾病患者的研究中,6 例(35.3%)患者为血管型,5 例(29.4%)为遗传障碍型,4 例(23.5%)为混合型,2 例(11.7%)为肿瘤型。所有患者(100%)的脑部受累表现为血管或实质受累,或血管和实质均受累;6 名患者(35.3%)的皮肤受累;2 名患者(11.7%)的眼部受累;1 名患者(5.9%)的面部受累。神经嵴疾病(NCDs)在文献中是一类罕见且未得到充分认识的疾病,可能是由于缺乏对该疾病的认识而导致报告不足。更多这样的报告可能会增加这些罕见疾病的病例,使临床医生能够高度怀疑,从而及早发现并及时提供咨询,还能改善预防策略,帮助开发治疗或预防这些疾病的新药。
{"title":"Emerging insights into cephalic neural crest disorders: A single center experience","authors":"M. Nayak, B. Mishra, Sebastian Levejoseph, Ajay Garg, Kalyan Sarma, Biswajit Sahoo, Manjari Tripathi, Shailesh B. Gaikwad","doi":"10.25259/jcis_87_2023","DOIUrl":"https://doi.org/10.25259/jcis_87_2023","url":null,"abstract":"\u0000\u0000Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.\u0000\u0000\u0000\u0000Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.\u0000\u0000\u0000\u0000In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.\u0000\u0000\u0000\u0000Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.\u0000","PeriodicalId":502888,"journal":{"name":"Journal of Clinical Imaging Science","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139808411","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}
引用次数: 0
期刊
Journal of Clinical Imaging Science
全部 Geobiology Appl. Clay Sci. Geochim. Cosmochim. Acta J. Hydrol. Org. Geochem. Carbon Balance Manage. Contrib. Mineral. Petrol. Int. J. Biometeorol. IZV-PHYS SOLID EART+ J. Atmos. Chem. Acta Oceanolog. Sin. Acta Geophys. ACTA GEOL POL ACTA PETROL SIN ACTA GEOL SIN-ENGL AAPG Bull. Acta Geochimica Adv. Atmos. Sci. Adv. Meteorol. Am. J. Phys. Anthropol. Am. J. Sci. Am. Mineral. Annu. Rev. Earth Planet. Sci. Appl. Geochem. Aquat. Geochem. Ann. Glaciol. Archaeol. Anthropol. Sci. ARCHAEOMETRY ARCT ANTARCT ALP RES Asia-Pac. J. Atmos. Sci. ATMOSPHERE-BASEL Atmos. Res. Aust. J. Earth Sci. Atmos. Chem. Phys. Atmos. Meas. Tech. Basin Res. Big Earth Data BIOGEOSCIENCES Geostand. Geoanal. Res. GEOLOGY Geosci. J. Geochem. J. Geochem. Trans. Geosci. Front. Geol. Ore Deposits Global Biogeochem. Cycles Gondwana Res. Geochem. Int. Geol. J. Geophys. Prospect. Geosci. Model Dev. GEOL BELG GROUNDWATER Hydrogeol. J. Hydrol. Earth Syst. Sci. Hydrol. Processes Int. J. Climatol. Int. J. Earth Sci. Int. Geol. Rev. Int. J. Disaster Risk Reduct. Int. J. Geomech. Int. J. Geog. Inf. Sci. Isl. Arc J. Afr. Earth. Sci. J. Adv. Model. Earth Syst. J APPL METEOROL CLIM J. Atmos. Oceanic Technol. J. Atmos. Sol. Terr. Phys. J. Clim. J. Earth Sci. J. Earth Syst. Sci. J. Environ. Eng. Geophys. J. Geog. Sci. Mineral. Mag. Miner. Deposita Mon. Weather Rev. Nat. Hazards Earth Syst. Sci. Nat. Clim. Change Nat. Geosci. Ocean Dyn. Ocean and Coastal Research npj Clim. Atmos. Sci. Ocean Modell. Ocean Sci. Ore Geol. Rev. OCEAN SCI J Paleontol. J. PALAEOGEOGR PALAEOCL PERIOD MINERAL PETROLOGY+ Phys. Chem. Miner. Polar Sci. Prog. Oceanogr. Quat. Sci. Rev. Q. J. Eng. Geol. Hydrogeol. RADIOCARBON Pure Appl. Geophys. Resour. Geol. Rev. Geophys. Sediment. Geol.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1