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1.
Endocrine ; 85(1): 407-416, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38386167

RESUMO

BACKGROUND: There have been few studies on the role of autophagy in pancreatic neuroendocrine tumours (PNETs). SQSTM1/p62 (also called Sequestosome 1) is a potential autophagy regulator, and its biological roles and clinical significance in PNETs remain poorly understood. PURPOSE: The purpose of this study was to evaluate the clinical significance of SQSTM1/p62 in human PNET specimens and to evaluate its potential value as a therapeutic target by studying its biological function in PNET cell lines. METHODS: SQSTM1/p62 protein expression was assessed in 106 PNET patient specimens by immunohistochemistry, and the relationship between SQSTM1/p62 protein expression and the clinicopathological features of PNETs in patients was analysed. The proliferation, invasion and apoptosis of SQSTM1/p62-knockdown QGP-1 and INS-1 cells were assessed by the MTT assay, a Transwell assay and flow cytometry. Cell autophagy was assessed by western blotting and mCherry-GFP-LC3B. RESULTS: The protein expression of SQSTM1/p62 in PNET patient specimens was significantly correlated with tumour recurrence (p = 0.005) and worse prognosis (log rank p = 0.020). Downregulation of the SQSTM1/p62 gene inhibited tumour cell proliferation and migration and induced PNET cell death. Downregulation of SQSTM1/p62 activated autophagy in PNET cell lines but blocked autophagic flow. Knockdown of the SQSTM1/p62 gene inhibited mTOR phosphorylation. CONCLUSION: The SQSTM1/P62 protein could be an independent prognostic marker for PNET patients. Downregulating SQSTM1/P62 can inhibit PNET progression, inhibit mTOR phosphorylation and block autophagic flow.


Assuntos
Autofagia , Proliferação de Células , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Proteína Sequestossoma-1 , Humanos , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/metabolismo , Proteína Sequestossoma-1/metabolismo , Proteína Sequestossoma-1/genética , Tumores Neuroendócrinos/genética , Tumores Neuroendócrinos/patologia , Tumores Neuroendócrinos/metabolismo , Masculino , Feminino , Pessoa de Meia-Idade , Prognóstico , Linhagem Celular Tumoral , Autofagia/fisiologia , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/genética , Adulto , Idoso , Apoptose
2.
J Endocr Soc ; 7(9): bvad093, 2023 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-37873498

RESUMO

Context: Paragangliomas located within the pericardium represent a rare yet challenging clinical situation. Objective: The current analysis aimed to describe the clinical characteristics of cardiac paragangliomas, with emphasis on the diagnostic approach, genetic background, and multidisciplinary management. Methods: Twenty-four patients diagnosed with cardiac paraganglioma (PGL) in Peking Union Medical College Hospital, Beijing, China, between 2003 and 2021 were identified. Clinical data was collected from medical record. Genetic screening and succinate dehydrogenase subunit B immunohistochemistry were performed in 22 patients. Results: The median age at diagnosis was 38 years (range 11-51 years), 8 patients (33%) were females, and 4 (17%) had familial history. Hypertension and/or symptoms related to catecholamine secretion were present in 22 (92%) patients. Excess levels of catecholamines and/or metanephrines were detected in 22 (96%) of the 23 patients who have completed biochemical testing. Cardiac PGLs were localized with 131I-metaiodobenzylguanidine scintigraphy in 11/22 (50%), and 99mTc-hydrazinonicotinyl-tyr3-octreotide scintigraphy in 24/24 (100%) patients. Genetic testing identified germline SDHx mutations in 13/22 (59%) patients, while immunohistochemistry revealed succinate dehydrogenase (SDH) deficiency in tumors from 17/22 (77%) patients. All patients were managed by a multidisciplinary team through medical preparation, surgery, and follow-up. Twenty-three patients received surgical treatment and perioperative death occurred in 2 cases. Overall, 21 patients were alive at follow-up (median 7.0 years, range 0.6-18 years). Local recurrence or metastasis developed in 3 patients, all of whom had SDH-deficient tumors. Conclusion: Cardiac PGLs can be diagnosed based on clinical manifestations, biochemical tests, and appropriate imaging studies. Genetic screening, multidisciplinary approach, and long-term follow-up are crucial in the management of this disease.

3.
Endocr Pract ; 27(9): 874-880, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33705973

RESUMO

OBJECTIVE: The clinical significance of the YY1 gene mutation and expression in pancreatic neuroendocrine tumors (PNETs) remains unknown. Therefore, this study aimed to comprehensively analyze the somatic mutation of YY1 in the different subtypes of PNETs. METHODS: A total of 143 PNETs were assessed by Sanger sequencing to identify the somatic mutation of YY1 gene in various subtypes of PNETs. YY1 protein expression was examined in 103 PNETs by immunohistochemical staining and western blot. Gene mutation and its protein expression were correlated with clinicopathologic features. RESULTS: A recurrent mutation (chr14:100743807C>G) in the YY1 gene was identified in 15 of 83 insulinomas (18%) and in only 1 of 60 noninsulinoma PNETs (1.7%) (P = .0045). The YY1 mutation was not found in MEN1-associated insulinomas. The YY1 mutation in insulinomas was correlated with older age and lower serum glucose levels (age, 57 vs 42.5 years, P = .006; blood glucose, 25.2 vs 33.6 mg/dL, P = .008). YY1 protein expression was found in 100 of 103 PNETs, although expression was weaker in metastases than in localized tumors (P = .036). The stronger expression of YY1 protein was associated with favorable disease-free survival of patients with PNETs (log-rank, P = .011; n = 70). Multivariable statistical analysis showed that YY1 protein expression could be an independent predictor of prognosis. CONCLUSION: The hotspot YY1 mutation mostly occurred in insulinomas and rarely in noninsulinoma PNETs. The stronger YY1 protein expression was correlated with the better prognosis of PNETs patients.


Assuntos
Insulinoma , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Fator de Transcrição YY1 , Idoso , Humanos , Pessoa de Meia-Idade , Mutação , Tumores Neuroendócrinos/genética , Neoplasias Pancreáticas/genética , Prognóstico , Fator de Transcrição YY1/genética
4.
Graefes Arch Clin Exp Ophthalmol ; 258(5): 1081-1086, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32060728

RESUMO

PURPOSE: The purpose of the study is to analyze the incidence, manifestations, and treatment of blepharoptosis caused by long-term use of corticosteroid eyedrops. METHODS: Retrospective case series include 46 patients with a history of using corticosteroid eyedrops unilaterally for at least 2 months. The palpebral fissure, MRD1, and levator function were evaluated. RESULTS: Among 46 patients, the differences of mean MRD1 (p < 0.0005), palpebral fissure height (p < 0.0005), and levator function (p = 0.003) between eyes with and without corticosteroid eyedrops application were significant. Ptosis existed in 40 out of 46 eyes with corticosteroid; the differences of the mean MRD1 (p < 0.0005) and palpebral fissure height (p = 0.001) between eyes with and without ptosis were significant. Nine patients underwent levator aponeurosis repair surgeries. Pathological examinations revealed mainly vascular fibers and few muscle fibers, as well as apoptosis of levator palpebrae muscle and Muller muscle. CONCLUSION: Blepharoptosis is frequently observed after chronic corticosteroid eyedrops use in Chinese population.


Assuntos
Blefaroptose/induzido quimicamente , Glucocorticoides/efeitos adversos , Atrofia Muscular/induzido quimicamente , Músculos Oculomotores/efeitos dos fármacos , Administração Oftálmica , Adolescente , Adulto , Idoso , Blefaroplastia , Blefaroptose/diagnóstico , Blefaroptose/cirurgia , Criança , Dexametasona/efeitos adversos , Feminino , Fluormetolona/efeitos adversos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/diagnóstico , Atrofia Muscular/cirurgia , Músculos Oculomotores/patologia , Soluções Oftálmicas , Prednisolona/efeitos adversos , Prednisolona/análogos & derivados , Estudos Retrospectivos , Resultado do Tratamento
5.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 41(5): 673-677, 2019 Oct 30.
Artigo em Chinês | MEDLINE | ID: mdl-31699199

RESUMO

Objective To approach the discordance of estrogen receptor(ER),progesterone receptor(PR),Cerb-B2,Ki-67 index and P53 expressions between primary and regional or distant recurrent lesions in recurrent or metastatic breast cancer patients.Methods Clinical and pathological data of 56 recurrent or metastatic breast cancer patients who were treated in Peking Union Medical College Hospital from January 2001 to February 2015 were retrospectively analyzed.The changes in the expressions of ER,PR,Cerb-B2,Ki-67 index,and P53 status were analyzed.Results The hormone receptor positive rate between primary tumor and recurrent or metastatic sites decreased from 60.7% to 57.1% for ER and from 55.4% to 44.6% for PR,respectively.Changes in hormone receptor status were seen at the rate of 12.5%(7/56)and 16.1%(9/56)for ER and PR,respectively.Cerb-B2 receptor positive rate increased from 19.1% to 29.5% and the discordance rate was 9.1%(4/44).The discordance rate of Ki-67 index was 24.5%(12/49).The P53 receptor positive rate increased from 37.5% to 55.6% and the discordance rate was 13.3%(6/45).Conclusion Although the relevant rules of above changes are still controversial,these findings still have great clinical significance for making effective treatment decisions of recurrent or metastatic breast cancer.


Assuntos
Neoplasias da Mama/genética , Antígeno Ki-67/genética , Receptor ErbB-2/genética , Receptores de Estrogênio/genética , Receptores de Progesterona/genética , Proteína Supressora de Tumor p53/genética , Humanos , Estudos Retrospectivos
6.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 40(5): 710-713, 2018 Oct 30.
Artigo em Chinês | MEDLINE | ID: mdl-30404707

RESUMO

Lung cancer is mostly characterized by a pulmonary solid mass on CT. In rare cases,patients do not have these typical manifestation but present with diffusely-distributed small nodules and pulmonary bullae,which can easily be misdiagnosed. A special case of lung adenocarcinoma was managed in our hospital from September 24th to December 19th in 2016. Under high-resolution CT,multiple nodules were seen in both lungs,mostly in the upper lungs,involving the pleura and interlobular fissures. Some nodules had cystic changes. A large bulla was seen in the left upper lung. Its wall was thickened with multiple nodules. Lung adenocarcinoma was pathologically confirmed.


Assuntos
Adenocarcinoma/diagnóstico por imagem , Vesícula/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico por imagem , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Tomografia Computadorizada por Raios X
7.
Exp Ther Med ; 14(6): 6077-6083, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29250142

RESUMO

Cardiac amyloidosis (CA) describes a group of heterogeneous diseases that are characterized by the extracellular fibril deposition of amyloid protein in the myocardium. The abnormal protein is usually derived from light-chain amyloidosis, mutant transthyretin amyloidosis and wild-type transthyretin. Patients with ischemic strokes and amyloidosis have been sporadically reported, however, they are not well summarized. In the present study, a case of cerebral ischemic stroke, secondary to CA was described. This patient presented with dyspnea on exertion, without any evidence of atrial fibrillation. A biopsy revealed deposition of amyloid in the myocardium and Congo Red staining was positive. He suffered from acute infarction of left basal ganglia, resulting from occlusion of the left middle cerebral arterial 6 months prior to admission. However, re-examination of cerebral magnetic resonance imaging in the present hospital revealed an old infarction in the region of the left basal ganglia with a normal appearance of the left middle cerebral artery. Transesophageal echocardiography (TEE) and cardiac magnetic resonance (CMR) both discovered intra-cardiac thrombi, confirming the diagnosis of cardiogenic cerebral embolism. The present study indicates that patients with CA may additionally present with cardiogenic cerebral embolism, and TEE and CMR imaging may help to avoid missing the presence of intra-cardiac thrombi.

8.
World J Gastroenterol ; 21(7): 2220-4, 2015 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-25717261

RESUMO

Multiple rectal carcinoids are rare. Due to the unreliability of endoscopic polypectomy in treating these submucosal lesions, a laparotomy is usually performed. We present a case report on multiple rectal carcinoids with three carcinoid foci<10 mm in diameter located in the mid-rectum. Preoperative examination showed the lesions to be confined to the submucosal layer with no perirectal nodal involvement. A transanal endoscopic microsurgery was successfully performed to remove the three lesions with accurate full-thickness resection followed by secured suture closure. The postoperative pathology revealed neuroendocrine tumors G1 (carcinoids) located within the submucosal layer without lymphatic or vessel infiltration. Both the deep and lateral surgical margins were completely free of tumor cells. The patient recovered quickly and uneventfully. No tumor recurrence was observed at the six-month follow-up. For the multiple small rectal carcinoids without muscularis propria or lymphatic invasion, transanal endoscopic microsurgery offers a reliable and efficient alternative approach to traditional laparotomy for select patients, with the added advantages of minimally invasive surgery.


Assuntos
Tumor Carcinoide/cirurgia , Microcirurgia/métodos , Neoplasias Primárias Múltiplas/cirurgia , Neoplasias Retais/cirurgia , Sigmoidoscopia/métodos , Biópsia , Tumor Carcinoide/patologia , Endossonografia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/patologia , Neoplasias Retais/patologia , Fatores de Tempo , Resultado do Tratamento , Carga Tumoral
9.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 37(6): 720-3, 2015 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-26725397

RESUMO

OBJECTIVE: To approach the expressions of estrogen receptor (ER),progestogen receptor (PR),Cerb-B2,and Ki67 index in simple mucinous carcinoma of the breast and their clinical significance. METHODS: The clinicopathological data of 72 patients with simple mucinous carcinoma of the breast who were treated in our hospital from 1997 to 2012 were retrospectively studied. Expressions of ER,PR,Cerb-B2,and Ki67 index and their relationship with clinical characteristics were analyzed. RESULTS: Nine patients had lymph node metastasis. Expressions of ER,PR,and Cerb-B2 were 77.8%,69.4%,and 3.1%,respectively. The expressions of ER,PR,and Cerb-B2 showed no correlation with age,menstrual status,and axillary lymph node metastasis (P>0.05). The expression of ER was correlated with tumor diameter (P=0.008) while the expression of PR and Cerb-B2 showed no such correlation. CONCLUSIONS: High ER or PR expression and low Cerb-B2 expression predict good prognosis in patients with simple mucinous carcinoma of the breast. Combined detection of ER,PR,Cerb-B2,and Ki67 index may help to improve the multidisciplinary management of simple mucinous carcinoma of the breast.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Humanos , Antígeno Ki-67 , Metástase Linfática , Progestinas , Receptor ErbB-2 , Receptores de Estrogênio , Receptores de Progesterona , Estudos Retrospectivos
10.
BMC Endocr Disord ; 14: 64, 2014 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-25099181

RESUMO

BACKGROUND: Pancreatic neuroendocrine tumors (PNETs) are a group of rare tumors. Chromogranin A (CgA) was considered as the most practical and useful serum tumor marker in PNET patients. But peripheral blood levels of CgA are not routinely tested in Chinese patients with PNETs. This study was to assess the diagnostic value of CgA in Chinese patients with PNETs especially in patients with insulinomas. METHODS: Eighty-nine patients with PNETs including 57 insulinomas and 32 non-insulinoma PNETs as well as 86 healthy participants were enrolled in this study between September 2003 and June 2013. Serum levels of CgA were measured by ELISA method. Expression of CgA protein was detected in 26 PNET tissues including 14 insulinomas by immunohistochemical staining. RESULTS: Serum levels of CgA in 89 PNET patients were significantly higher than that in healthy controls (P = 7.2 × 10-9). Serum levels of CgA in 57 patients with insulinomas (median 64.8 ng/ml, range 25-164) were slightly higher than the levels in healthy controls (median 53.4 ng/ml, range 39-94) but much lower than the levels in 32 patients with non-insulinoma PNETs (median 193 ng/ml, range 27-9021), P = 0.001. The serum CgA levels were reduced in 16 of 17 patients with insulinomas after tumor resection. ROC curve showed that CgA values at 60 ng/ml distinguished patients with insulinomas from healthy controls but its sensitivity and specificity were 66.7% and 73.3%, respectively. In contrast, CgA values at 74 ng/ml distinguished patients with non-insulinoma PNETs from healthy controls, and the sensitivity and specificity were 65.6% and 91.9%, respectively. Except for two insulinomas with negative staining of CgA, 12 insulinoma tissues showed positive staining of CgA. CONCLUSION: CgA is a reliable serum diagnostic biomarker for PNETs but not for insulinomas.


Assuntos
Biomarcadores Tumorais/sangue , Biomarcadores/análise , Cromogranina A/sangue , Insulinoma/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Adulto , Estudos de Casos e Controles , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Humanos , Técnicas Imunoenzimáticas , Insulinoma/sangue , Masculino , Tumores Neuroendócrinos/sangue , Neoplasias Pancreáticas/sangue , Prognóstico , Curva ROC
11.
J Ultrasound Med ; 30(11): 1519-27, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22039024

RESUMO

OBJECTIVES: The purpose of this study was to evaluate the utility of contrast-enhanced sonography as an adjunct to conventional transvaginal sonography for detecting endometrial carcinoma and defining the depth of myometrial invasion. METHODS: A total of 35 patients with endometrial carcinoma diagnosed by endometrial sampling were examined with transvaginal sonography followed by contrast-enhanced sonography before treatment. The contrast enhancement phases (ie, early wash-in/out and late wash-in/out) were visually observed before comparison of tumors grouped by average diameter and histopathologic grade. We evaluated the effectiveness of contrast-enhanced sonography as an adjunct to transvaginal sonography in tumor imaging. We calculated the accuracy of contrast-enhanced sonography for diagnosing the depth of tumor invasion into the myometrium by using arcuate vascular plexus involvement as the sonographic standard for diagnosis of deep myometrial infiltration. RESULTS: Of the 34 tumors identified by contrast-enhanced sonography, 28 (82.4%) showed early wash-in, and 6 (17.6%) showed late wash-in. Similar numbers of cases showed early and late wash-out. The enhancement phases did not differ significantly across groups with different average tumor diameters or histologic grades (P > .05). Contrast-enhanced sonography contributed the most to tumor imaging in patients with a thin endometrium after endometrial biopsy because it enhanced the contrast between the tumor and tissue. The diagnostic accuracy of contrast-enhanced sonography for determining the myometrium infiltration depth was 85.3%. CONCLUSIONS: This study revealed diagnostically useful characteristics of the enhancement phase of endometrial carcinoma. The ability to enhance tumor-to-tissue contrast makes contrast-enhanced sonography a valuable adjunct to conventional sonography of endometrial carcinoma, especially for the thin endometrium found after endometrial biopsy. Contrast-enhanced sonography performed well in the diagnosis of the myometrial infiltration depth when using arcuate vascular plexus involvement as a marker of deep myometrial infiltration.


Assuntos
Meios de Contraste , Neoplasias do Endométrio/diagnóstico por imagem , Fosfolipídeos , Hexafluoreto de Enxofre , Adulto , Idoso , Neoplasias do Endométrio/patologia , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Pessoa de Meia-Idade , Gradação de Tumores , Ultrassonografia , Vagina
12.
Zhonghua Xin Xue Guan Bing Za Zhi ; 39(10): 915-9, 2011 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-22321275

RESUMO

OBJECTIVE: To observe the clinical features and cardiac magnetic resonance imaging (CMR) characteristics of patients with endomyocardial biopsy (EMB)-proven cardiac amyloidosis (CA). METHODS: EMB proven CA patients underwent CMR examination from September 2006 to December 2010 were included. The findings of clinical manifestation, electrocardiogram, echocardiography and CMR were analyzed. RESULTS: Among the 18 patients with EMB verified CA, 5 patients underwent CMR. All 5 patients had heart failure symptoms and electrocardiogram was abnormal. Echocardiogram showed concentric left ventricular hypertrophy, granular appearance of the myocardium, left atrial enlargement and moderate to severe left ventricular diastolic dysfunction. CMR revealed increased thickness of the left ventricular wall (especially at the inter-ventricular septum), enlarged bilateral auricle, restricted left ventricular filling with normal or mild to moderate reduced systolic function. Pleural and pericardial effusions were observed in 2 patients. Abnormal late gadolinium enhancement (LGE) was detected in all 5 patients. CMR revealed different patterns of LGE. Left ventricular global subendocardial delayed gadolinium enhancement or transmural delayed gadolinium enhancement were found, and patients also showed line-, granular- or patchy-like enhancement. The degree and range of LGE paralleled the disease course and were consistent with electrocardiogram changes. CONCLUSIONS: As a noninvasive diagnostic tool, CMR is valuable in the diagnosis of CA. For patients with clinical suspicion of CA, CMR could be a helpful diagnostic tool, especially in the hospitals where EMB is not available.


Assuntos
Amiloidose/diagnóstico , Cardiomiopatias/diagnóstico , Imageamento por Ressonância Magnética , Biópsia , Ecocardiografia , Eletrocardiografia , Gadolínio , Gadolínio DTPA , Humanos , Hipertrofia Ventricular Esquerda , Miocárdio , Sístole
13.
Zhonghua Xin Xue Guan Bing Za Zhi ; 38(9): 786-9, 2010 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-21092644

RESUMO

OBJECTIVE: restrictive cardiomyopathy (RCM) is characterized by impairment of ventricular filling during diastole with preserved systolic function. The clinical and histopathological profile on endomyocardial biopsy of 25 consecutive patients with RCM was analyzed in this study. METHODS: twenty-five patients with diagnosis of RCM and underwent endomyocardial biopsy (EMB) were enrolled in the study. The clinical characteristics, electrocardiogram, serum chemistry, right heart catheter and cardiac pathology results were obtained. RESULTS: heart failure symptom was present in all 25 patients and left ventricular size and function were normal or near normal while serum brain natriuretic peptide (577 pg/ml) was moderately elevated. Right atrial and ventricular end-diastolic as well as pulmonary capillary wedge pressures derived from right heart catheter examination were increased. Amyloid deposition were evidenced in 16 and eosinophilic myocarditis in 2 patients upon pathological examination of EMB. In the remaining 7 patients, 3 were diagnosed idiopathic RCM, 2 were diagnosed as amyloidosis by biopsy from non-cardiac tissue and etiology remained unknown in 2 patients. Thus, conclusive diagnosis was made on EMB samples in 84% (21/25) patients of RCM. CONCLUSION: RCM may result from various local and systemic disorders. EMB is helpful for identifying the underlying etiology.


Assuntos
Cardiomiopatia Restritiva/patologia , Adolescente , Adulto , Idoso , Amiloidose , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Miocárdio/patologia , Eosinofilia Pulmonar , Adulto Jovem
14.
Zhonghua Nei Ke Za Zhi ; 49(8): 684-7, 2010 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-20979789

RESUMO

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 eosinophilia 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 eosinophilic 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.


Assuntos
Eosinofilia/patologia , Cardiopatias/patologia , Adulto , Idoso , Endocárdio/patologia , Eosinofilia/complicações , Eosinofilia/diagnóstico , Feminino , Cardiopatias/diagnóstico , Cardiopatias/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Prognóstico
15.
Zhonghua Yi Xue Za Zhi ; 90(24): 1694-7, 2010 Jun 22.
Artigo em Chinês | MEDLINE | ID: mdl-20979880

RESUMO

OBJECTIVE: To analyze the clinical and molecular genetic characteristics of one patient with sporadic parathyroid carcinoma (s-PC). METHODS: The clinical profile, laboratory data and paraffin-embedded tissue sample of a s-PC patient were collected at our hospital. Genomic DNA was extracted from the leukocytes of peripheral blood and paraffin-embedded tissue of this patient. All 17 exons of HRPT2 gene including the flanking regions of introns were amplified by PCR. The mutations of HRPT2 gene were analyzed by directly sequencing the amplified DNA fragments. Parafibromin encoded by HRPT2 gene was analyzed by immunohistochemistry. RESULTS: The patient was diagnosed as s-PC by the clinical presentations, laboratory examinations and typical pathologic characteristics. HRPT2 germline mutation was identified as a base mutation at codon 222 (CGA > TGA) and caused a nonsense mutation at the codon (R222X) resulting in a truncated protein. Parafibromin was completely lost while comparing the normal parathyroid tissues by immunohistochemistry. CONCLUSION: The altered expression of parafibromin caused by HRPT2 gene mutation is one of the molecular mechanisms for explaining the clinical manifestations of this patient.


Assuntos
Mutação , Neoplasias das Paratireoides/genética , Adulto , Humanos , Masculino , Proteínas Supressoras de Tumor/genética
16.
Chin Med J (Engl) ; 123(7): 864-70, 2010 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-20497679

RESUMO

BACKGROUND: Although endomyocardial biopsy (EMB) plays a crucial role in the final diagnosis in patients with heart failure of unknown etiology, the invasive nature of this technique limits its clinical application in China. The purpose of this study was to evaluate the clinical application of EMB in diagnosing cardiomyopathy with unexplained etiologies in China. METHODS: Fifty-three consecutive patients (38 males, age 14 - 67 years, median 43 years) were included in the study who were initially diagnosed as unexplained cardiomyopathy and under EMB biopsy in Peking Union Medical College Hospital from 2006 to 2009. The patients were clinically divided into four groups: dilated, hypertrophic, restrictive and unclassified cardiomyopathy. Biopsies were performed via right internal jugular vein with the use of the bioptome under fluoroscopic guidance. Three to five endomyocardial samples were taken from each patient for light microscopy examination and one sample for electron microscopy was taken if necessary. For each patient, an initial clinical diagnosis, an EMB diagnosis and a final diagnosis prior to discharge were established. All the data were compared and analyzed for the evaluation of clinical utility of EMB in China. RESULTS: In 26 patients initially diagnosed with restrictive cardiomyopathy (RCM), the etiology of the condition was finally diagnosed using EMB in 15; including 13 amyloidosis and two eosinophilic myocarditis. We employed EMB in 19 patients clinically diagnosed as dilated cardiomyopathy and detected viral myocarditis in one patient, cardiac involvement due to polymyositis in four and doxorubicin-induced cardiomyopathy in one. In five patients with severe left ventricle hypertrophy undergoing EMB, one patient was diagnosed as autophagic vacuolar cardiomyopathy and one as mitochondrial disease. In the remaining three patients with unclassified cardiomyopathy, EMB revealed infiltration of eosinophils as the cause of atrial ventricular block in one patient. Final diagnoses were made in 24 of the total 53 patients (45%) based on the combination of EMB and clinical data. Transient atrial ventricular block in a patient with prior complete left bundle branch block was the only complication occurred during the procedures. CONCLUSION: The clinical application of EMB is safe. The combination of EMB and clinical data produced a better understanding of the mechanisms behind the clinically diagnosed cardiomyopathy in China.


Assuntos
Biópsia/métodos , Cardiomiopatias/diagnóstico , Miocárdio/patologia , Adolescente , Adulto , Idoso , Cardiomiopatias/classificação , Cardiomiopatias/patologia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/patologia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Restritiva/diagnóstico , Cardiomiopatia Restritiva/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
17.
Zhonghua Bing Li Xue Za Zhi ; 34(11): 701-5, 2005 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-16536311

RESUMO

OBJECTIVE: To deduce the protocol, scoring criteria and interpretive guidelines for assessment of HER2 gene expression status by fluorescence in-situ hybridization (FISH) and to compare the results with those obtained by immunohistochemistry. METHODS: The HercepTest kit from Dako Cytomation was employed for immunohistochemistry. FISH for HER2 gene expression status was performed using PathVysion DNA probe kit on the archival paraffin-embedded sections of breast cancer tissues from 28 Chinese female patients with immunohistochemical staining scores of (3 +), (2 +), (1 +) and 0. RESULTS: Ten of the 12 patients with score (3 +) by immunohistochemistry were positive for HER2 by FISH, with 2 cases being polysomy. Two other cases with FISH-negative were also shown to be polysomy. Seven of the 10 patients with score (2 +) by immunohistochemistry showed HER2 gene amplification, with 1 case being polysomy. Two of the remaining 3 cases, which were FISH-negative, were shown to be polysomy. All the patients with scores (1 +, number = 3 ) or 0 ( number = 3) by immunohistochemistry failed to show amplification. One case of polysomy was noted in either group. CONCLUSIONS: Immunohistochemistry is useful as an initial screening tool for HER2 expression status. Because of the obvious discrepancies between protein expression and gene amplification, patients with score (2 +) by immunohistochemistry should undergo FISH testing as well. FISH is also required in selected examples with score (3 +) immunohistochemical results, especially in those with false-positive immunohistochemistry due to chromosome 17 aneuploidy.


Assuntos
Neoplasias da Mama/metabolismo , Carcinoma Ductal de Mama/metabolismo , Genes erbB-2 , Receptor ErbB-2/metabolismo , Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Cromossomos Humanos Par 17 , Feminino , Amplificação de Genes , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Poliploidia
18.
Zhonghua Jie He He Hu Xi Za Zhi ; 27(2): 105-7, 2004 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-14990185

RESUMO

OBJECTIVE: To study the clinical and pathological characteristics of isolated pulmonary giant cell arteritis and its differential diagnosis. METHODS: The pathological data of a patient with isolated pulmonary giant cell arteritis were studied, and the literature was reviewed. RESULTS: The walls of the pulmonary artery and its major lobar branches were thickened, and the blood vessels were occluded by organizing thrombosis. The arterial wall was infiltrated by lymphocytes, mononuclear cells and some multinuclear giant cells. CONCLUSIONS: Isolated pulmonary giant cell arteritis is a rare disease which can be definitely diagnosed by angiography and histopathology.


Assuntos
Arterite de Células Gigantes/patologia , Artéria Pulmonar/patologia , Adulto , Feminino , Humanos
19.
Zhonghua Bing Li Xue Za Zhi ; 33(6): 523-6, 2004 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-15634447

RESUMO

OBJECTIVE: To investigate the correlation between loss of Y chromosome and development of pancreatic cancer. METHOD: The status of Y chromosome was analyzed by two color interphase fluorescence in situ hybridization. performed on paraffin sections of pancreatic cancer tissues from 15 Chinese males. The probes located on the heterochromatin region of chromosome Y (maps to Yq12) and on the alpha satellite of X chromosome (maps to centromeric region) were selected for testing and as control respectively. RESULTS: The cancer cells from 10 out of the 15 pancreatic cancer patients studied showed loss of chromosome Y. The Y chromosome in the cells of surrounding non-neoplastic pancreatic tissues was intact. CONCLUSIONS: Loss of chromosome Y occurs non-randomly in tumor cells of Chinese male patients with pancreatic cancer. This cytogenetic aberration, which happens in high frequency, may serve as one of the markers for pancreatic malignancy.


Assuntos
Adenocarcinoma/genética , Deleção Cromossômica , Cromossomos Humanos Y , Neoplasias Pancreáticas/genética , Idoso , Biomarcadores Tumorais , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade
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