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We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.
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Objective@#Isolated cortical venous thrombosis (ICoVT) has a low incidence and is easily to be misdiagnosed. The clinical characteristics, diagnosis and treatment of three cases of ICoVT were analyzed in order to improve the level of diagnosis and treatment.@*Methods@#The clinical manifestations, examination, imaging and pathological features of three patients with ICoVT admitted to our hospital were retrospectively analyzed.@*Results@#All the three patients had acute onset. The main symptoms were headache, seizures, numbness of one limb and mental disorders. Intracranial pressure was normal. Brain magnetic resonance imaging (MRI) showed abnormal signals located in cortical sulcus and subcortex. Point and linear hypointensity could be seen on T2* or susceptibility weighted imaging (SWI) -weighted image. Digital subtraction angiography was performed in one case, showing occlusion of cortical veins. Protein S decreased in two patients, two patients with hyperhomocysteinemia and one patient with antiphospholipid antibody syndrome. The clinical and imaging manifestations of three patients were spontaneously alleviated. Brain biopsy was performed in two patients, and meningeal biopsy was performed in one patient due to significant meningeal thickening.@*Conclusions@#The clinical manifestations and routine MRI of ICoVT lack specificity and are easy to be misdiagnosed. However, ICoVT patients are often associated with risk factors for thrombophilia. T2* or SWI sequences are sensitive to the diagnosis of ICoVT. Brain biopsy has implications for the diagnosis and it is helpful for differential diagnosis, but the indications should be strictly controlled.
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Objective Isolated cortical venous thrombosis (ICoVT) has a low incidence and is easily to be misdiagnosed. The clinical characteristics, diagnosis and treatment of three cases of ICoVT were analyzed in order to improve the level of diagnosis and treatment. Methods The clinical manifestations, examination, imaging and pathological features of three patients with ICoVT admitted to our hospital were retrospectively analyzed. Results All the three patients had acute onset. The main symptoms were headache, seizures, numbness of one limb and mental disorders. Intracranial pressure was normal. Brain magnetic resonance imaging (MRI) showed abnormal signals located in cortical sulcus and subcortex. Point and linear hypointensity could be seen on T2* or susceptibility weighted imaging (SWI)?weighted image. Digital subtraction angiography was performed in one case, showing occlusion of cortical veins. Protein S decreased in two patients, two patients with hyperhomocysteinemia and one patient with antiphospholipid antibody syndrome. The clinical and imaging manifestations of three patients were spontaneously alleviated. Brain biopsy was performed in two patients, and meningeal biopsy was performed in one patient due to significant meningeal thickening. Conclusions The clinical manifestations and routine MRI of ICoVT lack specificity and are easy to be misdiagnosed. However, ICoVT patients are often associated with risk factors for thrombophilia. T2* or SWI sequences are sensitive to the diagnosis of ICoVT. Brain biopsy has implications for the diagnosis and it is helpful for differential diagnosis, but the indications should be strictly controlled.
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Objective To investigate the significance of superb microvascular imaging (SMI) for the detection of neovascularization in carotid atherosclerotic plaques.Methods SMI detected 28 carotid atherosclerotic plaques in 28 patients who underwent carotid endarterectomy.The SMI grade of carotid plaque neovascularization was assigned based on the following grading system:Grade 0,no neovascularization;grade 1,some neovascularization;grade 2,neovascularization observed in the shoulder of the plaque;and grade 3,widely distributed new blood vessels.SMI was used to evaluate the degree of blood flow,maximum flow velocity,and resistance index of the new vessels in the plaque.Microvascular density was measured with CD31 staining.Results Clear correlations were observed between neovascularization density on histopathological staining of the plaque and the degree of blood flow detected with SMI (rs=0.788,P ＜ 0.001).The classification of neovascular blood flow in the plaque was positively correlated with plaque thickness (rs=0.686,P=0.002).Of the 28 cases,neovascularization was detected in 23;of these 23 cases,the direction of blood flow was from the adventitia to the intima in 17 (75％) cases,while 6 (25％) cases showed an irregular direction of blood flow.The mean neovascular flow velocity was (5.620±0.131) cm/s,and the mean neovascular resistance index was 0.660 ± 0.090.Conclusion SMI is useful for the evaluation of carotid atherosclerotic plaque neovascularization.
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Objective To evaluate the expression profile of succinate dehydrogenase (SDH)B and SDHC in pheochromocytoma (PCC) and paraganglioma(PGL) (collectively abbreviated as PPGL), and their value in the early diagnosis of malignancy. Methods SDHB and SDHC immunohistochemistry were performed on 140 tumor specimens from 126 PPGL patients (PCC n＝62, PGL n＝61, PCC+PGL n＝3). Results (1) Germline mutation status of 67 patients were determined, of which, identifying 37(55.2%) patients with germline mutation: 2 (3.0%) SDHA, 18 ( 26. 9%) SDHB, 2 ( 3. 0%) SDHC, 5 ( 7. 5%) SDHD, 2 ( 3. 0%) VHL, 7 ( 10. 4%) RET, and 1(1.5%) NF1; and 30 (44.8%) individuals without known mutation. (2) Among 30 PPGLs from 27 patients with SDH-related (SDHx) mutations, 96.7%(29/30) stained negative for SDHB, 76.7%(23/30) stained negative for SDHC, while only 28.6%(14/49) and 18.4%(9/49) stained negative for SDHB and SDHC respectively in the 49 PPGLs without SDHx mutation (P<0.05). (3) The sensitivity of the SDH immunostaining in detecting the presence of germline SDHx mutation was 96.7%for SDHB and 76.7%for SDHC, while the specificity was 71.4%for SDHB and 81.6% for SDHC. ( 4 ) Among PPGLs without SDHB expression, 22. 9% were malignant. This percentage is significantly higher than that in PPGLs with preserved SDHB expression (3.8%, P<0.05). Conclusion SDHB and SDHC immunohistochemistry may serve as post-surgical screening tools to predict the presence of germline SDHx mutation in PPGLs. Negative SDHB expression calls for intense follow-up to rule out malignancy.
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Objective: To determine whether microtubule-associated protein 2 (MAP2) and microtubule-associated protein 1B (MAP1B) could be prognostic biomarkers for patients with pancreatic neuroendocrine tumors (PNETs). Methods:With immunohisto-chemical staining, the expressions of MAP2 and MAP1B were examined in 193 and 120 primary tumors and peritumoral tissues, re-spectively. Then, the relationship between the expression of each protein and clinicopathological characteristics, including prognosis was analyzed. Results:MAP2 and MAP1B were expressed in 88 of 193 (45.6%) and 77 of 120 (64.2%) tumors, respectively. The expres-sion of MAP2 was significantly associated with the favorable overall survival of patients with PNETs (P=0.012). Moreover, MAP2 expres-sion was associated with the improved overall survival in a subset of patients with stageⅡand stageⅢtumors (P=0.017). The MAP1B expression did not correlate with other clinicopathological features and prognosis. Conclusion:MAP2 could be a novel, independent prognostcbiomarker for PNETs.
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OJECTIVE@#To analyze the cinicopathological features, treatments, and prognosis of patients with papillary TDCa.@*METHOD@#A retrospective study was conducted of the medical records of our hospital for cases of TDCa. General clinical information including diagnostic criteria and treatments was obtained and analyzed. A literature review was also conducted.@*RESULT@#There were 160 cases of thyroglossal duct anomalies hospitalized in Peking Union Medical College Hospital in the past 20 years, and TDCa was diagnosed in 3 (1. 88%) cases. All 3 cases underwent local radical resections, and papillary TDCa was diagnosed based on the pathology examination. Selective neck dissection was chosen in one which was confirmed with cervical lymphatic metastasis. All patients were followed up with no recurrences or metastasis.@*CONCLUSION@#The incidence of TDCa is very low and the pathology examination is the only way to confirm the diagnosis. Surgery, especially Sistrunk's procedure, is the treatment of choice, with low complications and recurrence. In the presence of cervical lymphadenopathy, selective neck dissection should be considered.
Subject(s)
Humans , Carcinoma , Lymphatic Metastasis , Lymphatic Vessels , Neck , Neck Dissection , Neoplasm Recurrence, Local , Prognosis , Retrospective Studies , Thyroglossal Cyst , General Surgery , Thyroid Neoplasms , ThyroidectomyABSTRACT
Objective To report outcomes of patients with PSA ≥ 30 μg/L with initial negative transperineal template-guided saturation biopsy (TTSB). Methods From 2003 to 2010,a total of 1824 patients underwent transperineal saturation biopsies with the prostate template at the Peking Union Medical College Hospital.44 of them had initial negative biopsy with PSA ≥ 30 μg/L were reviewed in this study.The mean age was 68 years old (range,51 to 80).The mean biopsy cores were 28.7 (range,11 to 44).The median PSA level was 40 μg/L (range,30 to 128),and the median prostate volume was 73 ml (range,30 to 190).They were divided into four groups:TURP group,chronic prostatitis group,repeat biopsy group and miscellaneous group. Results Patients were followed up for a mean of 49 months (range,12 to 91).All patients of TURP group (15 cases) were identified as prostatic hyperplasia by postoperative pathology.2 of them had a second TTSB for PSA ＞ 10 μg/L after TURP,which were negative.5 patients of chronic prostatitis group had a declining PSA level after antibiotic therapy for 3 to 4 weeks.One patient took a second biopsy,which was identified as prostatitis.All patients of repeat biopsy group (18 cases) showed no significant decrease in PSA level during follow-up and undertook biopsies 2 to 4 times,6 of which were proved to be prostate cancer.All patients of the miscellaneous group (6 cases) had a declining PSA and didn't take a second biopsy. Conclusions Close follow-up and regular PSA testing for patients who had a high PSA level with initial negative biopsy would be help to avoid both false negative of prostate cancer and unnecessary biopsy.
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Objective To investigate the clinical and pathological features of eosinophilic diseases with cardiac involvement Methods We analyzed the clinical and cardiac pathological data of 7 patients with eosinophilic diseases with cardiac involvement under endomyocardial biopsy or autopsy.Results Seven patients (5 male, average age 51 years) were enrolled.Four patients were diagnosed as idiopathic hypereosinophilic syndrome and three were Churg-Strauss syndrome.Peripheral blood eosinophila count increased significantly in all patients.Cardiac involvement included angina pectoris, myocardial infarction, heart failure, presyncope and sudden death.Electrocardiogram showed cardiac ischemia, bundle branch block and third degree atrioventricular block.Echocardiography suggested ventricular and atrial enlargement, decreased ventricular systolic function, pulmonary hypertension, valvular prolapse and insufficiency and endocarditis.Pathology displayed infiltration of eosinophils, formation of granulomata, necrotizing vasculitis, myocardial necrosis and endomyocardial fibrosis in heart.Coronary artery could be also affected and led to myocardial infarction.Conclusions Cardiovascular complications of eocinophilic diseases are a major source of morbidity and mortality in these disorders.The manifestations are multiple and early recognition and treatment with steroid and immunosuppressant can improve prognosis.
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Objective To explore the clinical features, treatment and prognosis of mucinous tubular and spindle cell carcinoma of the kidney. Methods Patient 1, a 42-year-old woman presented with space-occupying lesion of the lower pole of the left kidney with no symptoms in physical examination for 1 week. CT revealed a low-enhanced tumor located in the lower pole of the left kidney in cT1b N0M0. Radical left nephrectomy was performed. Patient 2, a 76-year-old woman presented with space-occupying lesion of the middle of the left kidney with no symptoms in physical examination for 10 d. CT revealed a low-enhanced tumor located in the middle of the left kidney in cT1b N0 M0. Laparoscopic radical left nephrectomy was performed. The patient received adjuvant treatment with IL-2 and interferon-α 3 months after nephrectomy. Patient 3, a 50-year-old woman presented with lumbago for 3 months. CT revealed a low-enhanced tumor located in the right kidney in cT2 N0 M0. Radical right nephrectomy was performed. The patient received adjuvant treatment with IL-2 and interferon-α 3months after nephrectomy. Patient 4, a 60-year-old woman presented with lumbago and hematuria for 15 d. CT revealed a low-enhanced tumor located in the lower pole of the left kidney in cT1a N0M0.Radical left nephrectomy was performed. Results Histological examination of the tumors showed that they consisted of spindle cells arranged in tubular and trabecular patterns embedded in a myxoid stroma. Pathologic diagnosis of all 4 patients were MTSCCa. There was no evidence of recurrence in all patients for 9- 46 months. Conclusions MTSCCa is a rare low-grade renal cell carcinoma.There is a female predominance. Early surgical excision is the best treatment and the prognosis is relatively good.