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Imaging findings of arterial calcification due to deficiency of CD73: A case study CD73 缺乏导致动脉钙化的影像学发现:病例研究
IF 1 Q3 Medicine Pub Date : 2024-02-09 DOI: 10.3941/jrcr.v17i12.5175
Aniruddh Mandalapu, Kathryn J Stevens
A 52-year-old male developed right knee pain after hiking in Guatemala. On his return he underwent a knee MRI for an indication of medial knee pain, which demonstrated a medial meniscal tear. However, the MRI demonstrated marked tortuosity and dense calcification of the popliteal artery, confirmed on subsequent radiographs. Review of previous CT studies of the abdomen and lower extremities showed severe ectasia and arterial calcification in the femoral and popliteal arteries bilaterally, but no calcifications in the aorta and common iliac arteries. Dual energy CT studies of the extremities demonstrated extensive periarticular soft tissue calcification throughout the wrists, hands, ankle and feet without evidence of uric acid. Review of the electronic medical records revealed a diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC), a rare genetic disorder presenting with debilitating pain in the wrists and hands, claudication of the calves, thighs and buttocks, progressing to chronic ischemia of the feet which may be limb-threatening. The patient was enrolled in an NIH trial of bisphosphonates and dual-antiplatelet therapy with stabilization of symptoms. This case discusses the imaging findings of this rare condition, differential diagnosis to consider, and current management.
一名 52 岁的男性在危地马拉徒步旅行后出现右膝疼痛。回国后,他因膝关节内侧疼痛接受了膝关节核磁共振成像检查,结果显示为内侧半月板撕裂。然而,核磁共振成像显示腘动脉有明显的迂曲和密集钙化,这在随后的X光片上得到了证实。之前的腹部和下肢 CT 检查显示,双侧股动脉和腘动脉存在严重的异位和动脉钙化,但主动脉和髂总动脉没有钙化。四肢的双能 CT 检查显示,腕部、手部、踝关节和足部均有广泛的关节周围软组织钙化,但无尿酸证据。查看电子病历后发现,该患者被诊断为 CD73 缺乏引起的动脉钙化(ACDC),这是一种罕见的遗传性疾病,表现为手腕和手部疼痛,小腿、大腿和臀部跛行,进而发展为慢性足部缺血,可能危及肢体。患者参加了美国国立卫生研究院的双磷酸盐和双抗血小板治疗试验,症状有所稳定。本病例讨论了这种罕见疾病的影像学检查结果、需要考虑的鉴别诊断以及目前的治疗方法。
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引用次数: 0
CBCT Imaging and Root Canal Treatment for Taurodontism in Mandibular Second Molar - A Case Report and Literature Review 下颌第二磨牙牙髓病的 CBCT 成像和根管治疗 - 病例报告和文献综述
IF 1 Q3 Medicine Pub Date : 2024-01-10 DOI: 10.3941/jrcr.v17i11.5212
Xiufen Tian, Junxia Qiao, Na Guo, Kun Liu, Ke-han Li
The mandibular second molar exhibits a wide range of intricate root canal variations, which can present challenges and difficulties in achieving successful root canal treatment. This report focuses on two specific cases involving a root canal variation in a typical taurodontism of the mandibular second molar. To provide a comprehensive analysis and illustration of the anatomical structure of intraoral taurodontism and the important considerations for root canal treatment, we utilized advanced imaging techniques such as cone beam computed tomography (CBCT) and a dental microscope. By combining these tools, we were able to gain a deeper understanding of the complex root canal system and make informed decisions during the treatment process.
下颌第二磨牙的根管变异错综复杂,这给成功的根管治疗带来了挑战和困难。本报告重点讨论两个具体病例,涉及下颌第二磨牙典型的牙源性根管变异。为了全面分析和说明口内牙根管畸形的解剖结构以及根管治疗的重要注意事项,我们采用了先进的成像技术,如锥束计算机断层扫描(CBCT)和牙科显微镜。通过结合这些工具,我们能够更深入地了解复杂的根管系统,并在治疗过程中做出明智的决定。
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引用次数: 0
Rare origin - Ewing's sarcoma of the pleura: a case report and literature review 罕见病因--胸膜尤文氏肉瘤:病例报告和文献综述
IF 1 Q3 Medicine Pub Date : 2024-01-05 DOI: 10.3941/jrcr.v17i10.5184
Liao Juan, Jianqun Yu, Fanglan Li
Ewing sarcoma (ES) was first reported by Ewing in 1921. It is the second largest malignant bone tumor in children and adolescents, typically occurring in the bones of trunk or limbs . Extraskeletal Ewing sarcoma (EES) was first reported by Tefft et al. in 1969 and is extremely rare, accounting for less than 1% of all sarcomas. It can occur in any part of soft tissue, mostly in the trunk and lower limbs, and rarely in the pleura. We report a 22-year-old case of extraosseous Ewing sarcoma of pleural origin discovered and pathologically confirmed by physical examination. We report its CT manifestations and pathological results, and review the literature to summarize and analyze the clinical and imaging characteristics of extraosseous Ewing sarcoma, in order to improve our understanding of the disease.
尤因肉瘤(ES)由尤因于 1921 年首次报道。它是儿童和青少年中第二大恶性骨肿瘤,通常发生在躯干或四肢骨中。骨骼外尤文肉瘤(EES)由 Tefft 等人于 1969 年首次报道,极为罕见,占所有肉瘤的 1%以下。它可发生在软组织的任何部位,主要在躯干和下肢,很少发生在胸膜。我们报告了一例 22 岁的胸膜源性骨外尤文肉瘤病例,该病例是通过体检发现并经病理证实的。我们报告了该病例的 CT 表现和病理结果,并回顾了相关文献,总结和分析了骨外尤文肉瘤的临床和影像学特征,以提高我们对该疾病的认识。
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引用次数: 0
Imaging in hepatopulmonary syndrome- case report. A multicenter approach during the coronavirus pandemic 肝肺综合征的影像学检查--病例报告。冠状病毒大流行期间的多中心方法
IF 1 Q3 Medicine Pub Date : 2024-01-05 DOI: 10.3941/jrcr.v17i10.4411
Afsara A. Ahmmed, Randeep Kulshrestha
A 60-year-old lady with alcoholic liver disease developed central cyanosis and orthodeoxia. A technetium-99m macro-aggregated albumin lung perfusion scan and contrast echocardiogram were performed. A 13% right to left shunt was calculated from the macro-aggregated albumin scan. There were more bubbles in the left heart than the right at the end of the contrast echocardiogram. Hepatopulmonary syndrome was therefore diagnosed. The patient had a liver transplant five days after these investigations. Further discussion about hepatopulmonary syndrome will be provided.Normally, macro-aggregated albumin scans are performed in few centers, however as this was at the height of the coronavirus pandemic, the scan needed to be performed locally to reduce the chance of the patient getting coronavirus. Local radiographers were remotely instructed on conducting the macro-aggregated albumin scan by a larger center to provide a timely and important investigation in a logistically difficult scenario.
一位患有酒精性肝病的 60 岁女士出现了中心性紫绀和正位缺氧。医生为其进行了锝-99m 巨聚白蛋白肺灌注扫描和对比超声心动图检查。根据宏观白蛋白聚集扫描结果计算出,右向左分流率为 13%。造影剂超声心动图检查结束时,左心的气泡多于右心。因此诊断为肝肺综合征。在进行这些检查五天后,患者接受了肝脏移植手术。通常,大样本白蛋白扫描在少数中心进行,但由于当时正值冠状病毒大流行,扫描需要在当地进行,以减少患者感染冠状病毒的机会。当地的放射技师在一个较大的中心远程指导下进行宏观白蛋白聚集扫描,以便在后勤困难的情况下及时进行重要的检查。
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引用次数: 0
Breast cancer in a Hispanic patient with Werner syndrome 一名患有维尔纳综合征的西班牙裔患者罹患乳腺癌
IF 1 Q3 Medicine Pub Date : 2023-12-20 DOI: 10.3941/jrcr.v17i10.5168
Manuel Menendez Santos, Carlos Gonzalez Baerga, Sanjay Lamsal, Corey Engel, Savas Ozdemir
Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.
维尔纳综合征(Werner Syndrome)是一种罕见的常染色体隐性遗传病,由于与 DNA 稳定性相关的基因突变而导致早衰和恶性肿瘤风险增加。我们首次报告了一名患有 WS 的 29 岁西班牙裔女性乳腺癌患者的病例。诊断性乳房 X 线照相术和超声波检查、乳腺 MRI 和 PET 检查发现两个病灶,活检证实为浸润性导管癌。患者接受了新辅助化疗和根治性乳房切除术。术后10个月复发,分子分析显示为TP53突变。本病例研究中对乳腺癌的多因素评估对于优化 WS 患者的筛查、诊断和管理至关重要。
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引用次数: 0
Persistent craniopharyngeal canal with an associated sphenoid sinus fistula 伴有蝶窦瘘的顽固性颅咽管
IF 1 Q3 Medicine Pub Date : 2023-12-20 DOI: 10.3941/jrcr.v17i10.4707
Chase Dougherty, Barton F. Branstetter IV
Persistent craniopharyngeal canal (PCC) is a rare congenital anomaly that appears as a linear well-corticated canal running from the sella through the clivus and into the nasopharynx. Case reports of this anomaly have shown it is associated with a range of craniofacial defects, pituitary abnormalities, and meningoencephaloceles. It predisposes patients to bacterial meningitis. In this case a 46-year-old gentleman presenting for preoperative planning for surgical drainage of Potts Puffy tumor was found to have a PCC on CT and MRI. Imaging also demonstrated the presence of chronic inflammation and a fistula extending from the tract into the sphenoid sinus. This unusual presentation of a PCC with a sphenoid sinus fistula broadens the potential clinical presentations of PCC and further emphasizes the ability of this anomaly to serve as a conduit for CNS infection.
持续性颅咽管(PCC)是一种罕见的先天性畸形,表现为从蝶鞍穿过蝶窦进入鼻咽部的线状皮质管。有关这种异常的病例报告显示,它与一系列颅面缺陷、垂体异常和脑膜脑瘤有关。这种畸形易导致患者患细菌性脑膜炎。在本病例中,一名 46 岁的男性患者在进行 Potts Puffy 肿瘤手术引流术前规划时,CT 和 MRI 检查发现他患有 PCC。影像学检查还显示存在慢性炎症,瘘管从瘘道延伸到蝶窦。这种PCC伴有蝶窦瘘管的不寻常表现拓宽了PCC的潜在临床表现,并进一步强调了这种畸形作为中枢神经系统感染管道的能力。
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引用次数: 0
Rare origin - Ewing's sarcoma of the pleura: a case report and literature review. 罕见病因--胸膜尤文氏肉瘤:病例报告和文献综述。
IF 1 Q3 Medicine Pub Date : 2023-10-31 eCollection Date: 2023-10-01 DOI: 10.3941/jrcr.v17i8.5187
Liao Juan, Yu Jianqun, Li Fanglan

Ewing sarcoma (ES) was first reported by Ewing in 1921. It is the second largest malignant bone tumor in children and adolescents, typically occurring in the bones of trunk or limbs . Extraskeletal Ewing sarcoma (EES) was first reported by Tefft et al. in 1969 and is extremely rare, accounting for less than 1% of all sarcomas. It can occur in any part of soft tissue, mostly in the trunk and lower limbs, and rarely in the pleura. We report a 22-year-old case of extraosseous Ewing sarcoma of pleural origin discovered and pathologically confirmed by physical examination. We report its CT manifestations and pathological results, and review the literature to summarize and analyze the clinical and imaging characteristics of extraosseous Ewing sarcoma, in order to improve our understanding of the disease.

尤因肉瘤(ES)由尤因于 1921 年首次报道。它是儿童和青少年中第二大恶性骨肿瘤,通常发生在躯干或四肢骨中。骨骼外尤文肉瘤(EES)由 Tefft 等人于 1969 年首次报道,极为罕见,占所有肉瘤的 1%以下。它可发生在软组织的任何部位,主要在躯干和下肢,很少发生在胸膜。我们报告了一例 22 岁的胸膜源性骨外尤文肉瘤病例,该病例是通过体检发现并经病理证实的。我们报告了该病例的 CT 表现和病理结果,并回顾了相关文献,总结和分析了骨外尤文肉瘤的临床和影像学特征,以提高我们对该疾病的认识。
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引用次数: 0
Persistent craniopharyngeal canal with an associated sphenoid sinus fistula. 伴有蝶窦瘘的顽固性颅咽管。
IF 1 Q3 Medicine Pub Date : 2023-10-31 eCollection Date: 2023-10-01 DOI: 10.3941/jrcr.v17i8.4707
Chase C Dougherty, Barton F Branstetter

Persistent craniopharyngeal canal (PCC) is a rare congenital anomaly that appears as a linear well-corticated canal running from the sella through the clivus and into the nasopharynx. Case reports of this anomaly have shown it is associated with a range of craniofacial defects, pituitary abnormalities, and meningoencephaloceles. It predisposes patients to bacterial meningitis. In this case a 46-year-old gentleman presenting for preoperative planning for surgical drainage of Potts Puffy tumor was found to have a PCC on CT and MRI. Imaging also demonstrated the presence of chronic inflammation and a fistula extending from the tract into the sphenoid sinus. This unusual presentation of a PCC with a sphenoid sinus fistula broadens the potential clinical presentations of PCC and further emphasizes the ability of this anomaly to serve as a conduit for CNS infection.

持续性颅咽管(PCC)是一种罕见的先天性畸形,表现为从蝶鞍穿过蝶窦进入鼻咽部的线状皮质管。有关这种异常的病例报告显示,它与一系列颅面缺陷、垂体异常和脑膜脑瘤有关。这种畸形易导致患者患细菌性脑膜炎。在本病例中,一名 46 岁的男性患者在进行 Potts Puffy 肿瘤手术引流术前规划时,CT 和 MRI 检查发现他患有 PCC。影像学检查还显示存在慢性炎症,瘘管从瘘道延伸到蝶窦。这种PCC伴有蝶窦瘘管的不寻常表现拓宽了PCC的潜在临床表现,并进一步强调了这种畸形作为中枢神经系统感染管道的能力。
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引用次数: 0
Imaging in hepatopulmonary syndrome-case report. A multicenter approach during the coronavirus pandemic. 肝肺综合征的成像--病例报告。冠状病毒大流行期间的多中心方法。
IF 0.6 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Pub Date : 2023-10-31 eCollection Date: 2023-10-01 DOI: 10.3941/jrcr.v17i8.4411
Afsara Anisa Ahmmed, Randeep Kulshrestha

A 60-year-old lady with alcoholic liver disease developed central cyanosis and orthodeoxia. A technetium-99m macro-aggregated albumin lung perfusion scan and contrast echocardiogram were performed. A 13% right to left shunt was calculated from the macro-aggregated albumin scan. There were more bubbles in the left heart than the right at the end of the contrast echocardiogram. Hepatopulmonary syndrome was therefore diagnosed. The patient had a liver transplant five days after these investigations. Further discussion about hepatopulmonary syndrome will be provided. Normally, macro-aggregated albumin scans are performed in few centers, however as this was at the height of the coronavirus pandemic, the scan needed to be performed locally to reduce the chance of the patient getting coronavirus. Local radiographers were remotely instructed on conducting the macro-aggregated albumin scan by a larger center to provide a timely and important investigation in a logistically difficult scenario.

一位患有酒精性肝病的 60 岁女士出现了中心性紫绀和正位缺氧。医生为其进行了锝-99m 巨聚白蛋白肺灌注扫描和对比超声心动图检查。根据宏观白蛋白聚集扫描结果计算出,右向左分流率为 13%。造影剂超声心动图检查结束时,左心的气泡多于右心。因此诊断为肝肺综合征。在进行这些检查五天后,患者接受了肝脏移植手术。下面将进一步讨论肝肺综合征。通常,大样本白蛋白聚集扫描在少数中心进行,但由于当时正值冠状病毒大流行,扫描需要在当地进行,以减少患者感染冠状病毒的机会。当地的放射技师在一个较大的中心远程指导下进行宏观白蛋白聚集扫描,以便在后勤困难的情况下及时进行重要的检查。
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引用次数: 0
Breast cancer in a Hispanic patient with Werner syndrome. 一名患有维尔纳综合征的西班牙裔患者的乳腺癌。
IF 1 Q3 Medicine Pub Date : 2023-10-31 eCollection Date: 2023-10-01 DOI: 10.3941/jrcr.v17i8.5168
Manuel Menendez Santos, Carlos Gonzalez Baerga, Sanjay Lamsal, Corey Engel, Savas Ozdemir

Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.

维尔纳综合征(Werner Syndrome)是一种罕见的常染色体隐性遗传病,由于与 DNA 稳定性相关的基因突变而导致早衰和恶性肿瘤风险增加。我们首次报告了一名患有 WS 的 29 岁西班牙裔女性乳腺癌患者的病例。诊断性乳房 X 线照相术和超声波检查、乳腺 MRI 和 PET 检查发现两个病灶,活检证实为浸润性导管癌。患者接受了新辅助化疗和根治性乳房切除术。术后10个月复发,分子分析显示为TP53突变。本病例研究中对乳腺癌的多因素评估对于优化 WS 患者的筛查、诊断和管理至关重要。
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引用次数: 0
期刊
Journal of Radiology Case Reports
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