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Yen Chou MD Yi-Hong Chou MD Yi-You Chiou MD Hsin-Kai Wang MD Yi-Chen Lai MD Yung-Hui Lin MD Hong-Jen Chiou MD Chui-Mei Tiu MD 《Journal of clinical ultrasound : JCU》2019,47(4):235-238
Hepatic arterial pseudoaneurysm is a rare but potentially fatal condition that requires prompt management. We report a case of hepatic arterial pseudoaneurysm developed after radiofrequency ablation of a hepatocellular carcinoma. The patient was successfully treated with percutaneous absolute ethanol injection under ultrasound guidance. Follow-up studies with ultrasound and computed tomography for 2 years after treatment revealed no evidence of local recurrence of hepatocellular carcinoma and of the pseudoaneurysm. 相似文献
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H.-J. Lee S.-C. Hung T.-R. Hsu S.-C. Ko T. Chui-Mei C.-C. Huang D.-M. Niu C.-P. Lin 《AJNR. American journal of neuroradiology》2016,37(6):1044
BACKGROUND AND PURPOSE:A high incidence of cardiac-type Fabry disease with an α-galactosidase A mutation, IVS4 + 919 G>A, has been identified in the Taiwanese population. The neurologic manifestation has not been understood in this specific cardiac variant. This study aimed to investigate the typical imaging features of classic Fabry disease in patients with IVS4 Fabry disease.MATERIALS AND METHODS:Twenty-six patients with IVS4-type Fabry disease (20 men and 6 women; age range, 43–71 years; median age, 61 years) and 26 age- and sex-matched healthy controls (age range, 44–68 years; median age, 60 years) were analyzed for white matter hyperintensities, the pulvinar sign, and basilar artery diameter. The volumes of white matter hyperintensities were calculated by comparison with an in-house data base of 276 controls.RESULTS:Infarctions were found in 9 patients with IVS4 Fabry disease (35%) and in none of the healthy controls (P = .001). A pulvinar sign was found in 8 patients with IVS4 Fabry disease (30%) and in none of the healthy controls (P = .002). No significant difference was found in Fazekas scale scores for white matter hyperintensities; however, white matter hyperintensity volume in the deep white matter was higher in patients with IVS4 Fabry disease than in those from the healthy control data base (P = .004).CONCLUSIONS:Along with its involvement of the cardiac system, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls.Classic Fabry disease is a multisystem X-linked lysosomal disorder due to lysosomal α-galactosidase A (GLA) deficiency, which subsequently leads to accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body.1 The disease results in severe renal, cardiac, and central nervous system complications in adulthood. On brain MR imaging, classic Fabry disease is characterized by white matter hyperintensities, infarcts, and dolichoectasia.2In the general population, the incidence of Fabry disease has been reported as 1 in 40,000–117,000 live births. However, our previous studies by using neonate screening had identified a high incidence (approximately 1 in 1600 males) of a cardiac variant resulting from a GLA mutation, IVS4 + 919G>A (IVS4-type).3,4 Another study revealed that 12 of 10,499 males (1/875) and 24 of the 9564 females (1/399) had the IVS4 + 919G>A mutation in neonate screening.5 The natural course of the IVS4-type Fabry disease is still largely unknown. The intronic mutation (IVS4 + 919G>A) was reported to be a “cardiac-type” Fabry mutation,6 which may present with asymptomatic, mild symptomatic as microalbuminuria and retinal vessel tortuosity, to severe cardiac symptoms causing significant morbidity after the fifth decade of life. However, the neurologic symptoms in the specific subtype have never been understood. Therefore, the current study aimed to analyze the degrees of CNS involvement in IVS4-type Fabry disease by retrospectively comparing brain imaging results of this patient population with images from a healthy control data base. 相似文献
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Lee Bowman Ramon Tiu Emily Nash Smyth Melinda Dale Willard Li Li Julie Beyrer Yimei Han Ambrish Singh 《Clinical lung cancer》2021,22(1):32-41.e1
ObjectivesMetastatic non–small cell lung cancer (mNSCLC) is characterized by complex genomic alterations. NF1 mutations may confer distinct clinical characteristics within NSCLC, and real-world evidence on concurrent mutations, treatment patterns, and health outcomes is lacking.Materials and MethodsThis retrospective study was performed in patients with mNSCLC treated in the Flatiron Health network who underwent the FoundationOne tumor-sequencing. Anticancer therapies, concurrent mutations, real-world progression-free survival (rwPFS), and overall survival (OS) were assessed.ResultsOf the 1663 patients, 103 patients were identified with NF1 mutation. Concurrent mutations with Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (16.5%) and epidermal growth factor receptor fusion (6.8%) were the most frequent. In patients with NF1 mutation only (n = 57), 42% were women, 86% patients had smoking history, and 70% had non-squamous cell carcinoma type. Most (51%) of the patients with NF1 mutations received a single line of therapy versus other mutations and the overall treated population (44%). Platinum-based chemotherapy was the predominant first-line therapy, with programmed cell death-1/programmed cell death-ligand-1 inhibitors as subsequent lines of therapy. The NF1 mutation only group had numerically the shortest median rwPFS (82 days) than other mutation groups. Median OS for the NF1 mutation group in first, second, and third lines of therapy was 321, 498, and 210 days, respectively.ConclusionsNF1 mutations confer distinct clinical characteristics in patients with mNSCLC. These patients may have different trajectories for progression and survival than seen for other mutations, experience less systemic therapy after first-line therapy, and may have shorter survival. 相似文献
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Predictive factors for latency period and a prognostic model for survival in patients with therapy‐related acute myeloid leukemia 下载免费PDF全文
Moshe C. Ornstein Sudipto Mukherjee Sanjay Mohan Paul Elson Ramon V. Tiu Yogenthiran Saunthararajah Cassie Kendeigh Anjali Advani Matt Kalaycio Jaroslaw P. Maciejewski Mikkael A. Sekeres 《American journal of hematology》2014,89(2):168-173
Therapy‐related acute myeloid leukemia (t‐AML) is an increasingly recognized sequela in patients receiving chemotherapy or radiotherapy for a primary malignancy or autoimmune disease. This study assessed factors related to the latency period (LP) between the antecedent disorder (AD) and t‐AML diagnosis and developed a comprehensive prognostic model to predict overall survival (OS). We evaluated a cohort of newly diagnosed t‐AML patients treated with cytarabine‐based induction therapy from 2001 to 2011. Multivariable linear and proportional hazards models were used to assess the impact of different classes of chemotherapy on the LP and to identify independent prognostic factors for OS. Of 730 treated AML patients, 58 (7.9%) had t‐AML. Median LP to t‐AML was 5.6 years (range, 0.5–38.4). 64% of patients achieved CR and median OS was 10.7 months. Independent prognostic factors of short LP were age at AD (P < 0.0001) and prior treatment with mitotic inhibitors (P = 0.05). Unfavorable cytogenetics (P = 0.004), antecedent hematologic or autoimmune disease (P = 0.01), age >60 (P = 0.03), and platelet count <30,000 μL (P = 0.04) at the time of t‐AML diagnosis were prognostic for inferior OS. A prognostic model using these factors was developed that risk stratified t‐AML patients into two groups: favorable and unfavorable. Patients in the favorable group had a median OS of 37.6 months compared with 6.4 months in patients comprising the unfavorable group (P < 0.0001). Multicomponent prognostic models integrating disease or treatment‐related covariates can help better understand how t‐AML evolves; and can be clinically useful in risk stratifying t‐AML patients undergoing induction therapy. Am. J. Hematol. 89:168–173, 2014. © 2013 Wiley Periodicals, Inc. 相似文献
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Elephantiasis is a condition featured by gross enlargement of body parts to massive proportions. Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder. Vascular anomaly is one among the complications of NF1. We report a case of NF1 who had a left hand vascular pseudoaneurysm with left hand swelling mimicking elephantiasis. The characteristics of sonography make it an excellent imaging modality to investigate this sort of superficial vascular lesion. 相似文献
9.
Ping-Hua Tsai Yueh-Chin Yen Yi-Hong Chou Chien-Hua Lin Yu-Lin Bai Shu-Chuan Kao Yu-Meu Lin Yu-Ling Wang Ya-Chun Chou Peter Tien-Ying Lee Chui-Mei Tiu 《中华民国医用超音波学会杂志》2017,25(4):235-239
Choledochal cysts rarely present with acute pancreatitis. We report a patient with type I choledochal cyst(s) who had concomitant acute frank hemorrhagic pancreatitis.A 14-year-old male noted with a history of recurrent abdominal pain, fever and jaundice. Ultrasonography (US) of abdomen at the Emergency Department depicted distended gall bladder with wall thickening. Apparently dilated intrahepatic ducts (IHDs) and fusiform dilatation of the common bile duct (CBD), and mild dilatation of the pancreatic duct were also noted, suggesting a type I choledochal cyst( ). Computed tomography (CT) demonstrated calcifications in the uncinate process of the pancreas in addition to the similar findings on US. He subsequently underwent choledochal cyst excision with a Roux-en-Y hepaticojejunostomy. After surgical treatment, he has been doing well for 3 years. 相似文献
10.
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm characterized by clonal expansion of a hematopoietic progenitor, erythrocytosis, often leukocytosis and/or thrombocytosis, and nearly always an activating mutation in Janus kinase 2 (JAK2). The PV symptom burden can be considerable, in part driven by small or large vessel thrombotic tendency, splenomegaly, fatigue, pruritus, and a chronic risk of disease transformation to myelofibrosis or acute myeloid leukemia. In addition, patients with PV have an increased risk of mortality compared with the general population that often results from cardiovascular complications or disease transformation. Further, healthcare utilization and costs are higher in patients with PV than noncancer controls. First-line therapy options for high-risk patients may effectively manage PV in some instances; however, some patients do not receive adequate benefit from current treatment options and experience a more severe disease burden as a result. This may be especially true for those patients who are resistant to or intolerant of hydroxyurea or interferon-based therapies. New treatments currently being investigated in phase 3 clinical trials may alleviate disease burden in this patient population. 相似文献