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1.
Clin Otolaryngol ; 46(1): 175-180, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32871030

RESUMEN

OBJECTIVES: Laryngeal dysplasia (LD) is a precancerous lesion of the larynx. In this study, the laryngeal tissue of patients with laryngeal dysplasia was taken as the research object, and the aetiology of reflux was analysed. METHOD: Patients with laryngeal dysplasia after surgery were selected as our subjects. The levels of pepsin, enterokinase and bilirubin in laryngeal tissue samples of the two groups were detected by immunohistochemical method. RESULTS: The OR values (95% CI) of pepsin, enterokinase and bilirubin were 0.67 (0.19-2.36), 0.80 (0.22-2.98) and 1.33 (0.30-5.96), respectively, in the univariate analysis. Besides, in the multivariate analysis, the OR values (95% CI) of pepsin, enterokinase and bilirubin were 0.57 (0.14-2.30), 0.73 (0.18-2.92) and 1.40 (0.30-6.53), respectively. CONCLUSION: Larger sample size should be applied to prospective studies on whether reflux is a risk factor for laryngeal cancer.


Asunto(s)
Reflujo Gastroesofágico/patología , Neoplasias Laríngeas/etiología , Neoplasias Laríngeas/patología , Adulto , Anciano , Anciano de 80 o más Años , Bilirrubina/metabolismo , Estudios de Casos y Controles , Enteropeptidasa/metabolismo , Femenino , Reflujo Gastroesofágico/complicaciones , Reflujo Gastroesofágico/metabolismo , Humanos , Hiperplasia , Neoplasias Laríngeas/metabolismo , Masculino , Persona de Mediana Edad , Pepsina A/metabolismo
2.
Chin Med Sci J ; 34(4): 233-240, 2019 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-33906708

RESUMEN

Objective The aim of this study was to evaluate the diagnostic performance of T-SPOT.TB for tuberculous lymphadenitis. Methods Suspected tuberculous lymphadenitis patients between September 2010 and September 2018 who had both peripheral blood T-SPOT.TB test and lymph node biopsy were retrospectively enrolled in this study. The cutoff value of T-SPOT.TB test for peripheral blood was set as 24 spot forming cell (SFC)/10 6 periphreral blood monocyte cell (PBMC) according to the instruction of testing kits. The gold standard for diagnosis of TBL was the combination of microbiology results, histopathology results and patient's response to anti-TB treatment. Diagnostic efficacy of T-SPOT.TB was evaluated, including sensitivity, specificity, accuracy, predictive values, and likelihood ratio. Results Among 91 patients who met the inclusion criteria, we excluded 8 cases with incomplete clinical information and 6 cases who lost to follow-up. According to the gold standard, there were 37 cases of true TBL (9 confirmed TBL and 28 probable TBL), 30 cases of non-TBL, and 10 cases of clinically indeterminate diagnosis who were excluded from the final analyses. The T-SPOT.TB tests yielded 43 cases of positive response and 24 cases of negative response. The sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (PLR) and negative likelihood ratio (NLR) of peripheral blood T-SPOT.TB for diagnosing TBL were 89.2%, 66.7%, 79.1%, 76.7%, 83.3%, 2.68 and 0.16, respectively. The number of SFCs of T-SPOT.TB in TBL patients [432(134-1264)/10 6 PBMCs] was higher than that in non-TBL patients [0 (0-30) /10 6PBMCs] with a significant difference (Z=-5.306, P <0.001).Conclusion T-SPOT.TB is a rapid and simple diagnostic test for TBL with a high sensitivity and negative predictive value.


Asunto(s)
Ensayos de Liberación de Interferón gamma , Tuberculosis Ganglionar/diagnóstico , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mycobacterium tuberculosis/fisiología , Linfocitos T/inmunología , Tuberculosis Ganglionar/sangre , Adulto Joven
3.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 38(5): 554-558, 2016 10 10.
Artículo en Inglés | MEDLINE | ID: mdl-27825413

RESUMEN

Objective To summarize the characteristics of lymph node metastasis in patients with papillary thyroid carcinoma accompanied with Graves disease,and to provide evidence for clinical treatment. Methods Totally 98 patients with papillary thyroid carcinoma and Graves disease who had been treated in Peking Union Medical College Hospital from January 2004 to December 2013 were divided into the lymph node metastasis positive group (n=34) and lymph node metastasis negative group (n=64). The general information,blood biochemical results,pathological results,and prognoses were compared between these two groups. Results These two groups showed no significant differences in gender (χ2=0.2113,P=0.6458),age (t=1.7000,P=0.0922),tumor diameter (t=1.2559,P=0.2122),and multifocal tumors (χ2=1.9170,P=0.1661). The median level of thyrotropin receptor antibody (TR-Ab) value in the lymph node metastasis positive group was 4.84 U/L,which was significantly higher than that in the negative group which was 2.99 U/L (t=2.0169,P=0.0465). There were no significant differences in serum thyroid stimulating hormone (t=0.0257,P=0.9800),free triiodothyronine (t=1.3610,P=0.1770),free thyroxine (t=0.0082,P=0.9930),thyroid peroxidase antibody (t=0.0177,P=0.9860),and thyroglobulin antibody levels (t=1.1450,P=0.2550) between two groups. The postoperative pathological results showed that tumor capsular invasion rate (26.5% vs. 9.38%;χ2=5.006,P=0.0253) and lymph node recurrence rate (14.7% vs. 1.56%;χ2=4.583,P=0.0323) were significantly higher in the positive group than in the negative group. The distal metastasis rate in the positive group and negative group were 5.88% and 0,respectively. Conclusions There is no definite association between lymph node metastasis and tumor size in patients with thyroid papillary carcinoma associated with Graves disease. The risk factors for lymph node metastasis include TR-Ab and tumor capsular invasion,with a higher incidence of lymph nodes recurrence.


Asunto(s)
Carcinoma/patología , Enfermedad de Graves/patología , Neoplasias de la Tiroides/patología , Carcinoma/complicaciones , Carcinoma Papilar , Enfermedad de Graves/complicaciones , Humanos , Ganglios Linfáticos/patología , Metástasis Linfática , Recurrencia Local de Neoplasia , Pronóstico , Factores de Riesgo , Tiroglobulina/sangre , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/complicaciones , Tirotropina/sangre
4.
Ann Surg Oncol ; 19(5): 1529-34, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22009269

RESUMEN

BACKGROUND: Previous studies identified cadherin-17 (CDH17) as one of the most upregulated genes in node-positive gastric cancer. However, the prognostic significance of CDH17 in pN0 gastric cancer and its association with lymph node micrometastasis (LNMM) have not been investigated. METHODS: Clinicopathologic features of 191 patients with node-negative gastric cancer were studied retrospectively. All dissected lymph nodes were immunostained by cytokeratin to detect micrometastasis. CDH17 and lymphatic invasion (LVI) in primary carcinoma were evaluated by immunostaining of monoclonal CDH17 and D2-40 antibody. Correlation of CDH17 with clinicopathologic characteristics was subsequently assessed. Risk factors of LNMM were analyzed by univariate and multivariate logistic regression. Cox's proportional hazard model was applied to investigate independent prognostic factors of pN0 gastric cancer. Overall survival rates of patients with positive and negative CDH17 were compared, stratifying by pT stage, Lauren grade, and LNMM status. RESULTS: CDH17 was observed in 126 patients (66.0%). Positive expression of CDH17 was significantly associated with the age, tumor size, pT, Lauren grade, LVI, and LNMM, and identified as one of the independent risk factors of LNMM. Negative predictors of pN0 gastric cancer included pT, Lauren grade, LNMM, and CDH17. Furthermore, in tumors of pT2-3, intestinal histotype, and negative-LNMM, the survival rate of patients with CDH17 was significantly lower than that of patients without CDH17. CONCLUSIONS: CDH17 was positively associated with larger tumor size, deeper invasion, diffuse/mixed histotype, LVI, and LNMM, predicting a poor prognosis in pN0 gastric cancer. Additionally, CDH17 may also serve as a potential indicator of LNMM.


Asunto(s)
Biomarcadores de Tumor/análisis , Cadherinas/análisis , Carcinoma/patología , Carcinoma/secundario , Neoplasias Gástricas/química , Neoplasias Gástricas/patología , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/química , Carcinoma/mortalidad , Femenino , Estudios de Seguimiento , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Invasividad Neoplásica/patología , Micrometástasis de Neoplasia , Estadificación de Neoplasias , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Neoplasias Gástricas/mortalidad , Tasa de Supervivencia
5.
Orphanet J Rare Dis ; 15(1): 147, 2020 06 12.
Artículo en Inglés | MEDLINE | ID: mdl-32532290

RESUMEN

OBJECTIVE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions. METHODS: A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples. RESULTS: The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC. CONCLUSION: This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.


Asunto(s)
Hipopigmentación , Esclerosis Tuberosa , Xantogranuloma Juvenil , Pruebas Genéticas , Humanos , Lactante , Masculino , Sirolimus , Esclerosis Tuberosa/genética , Xantogranuloma Juvenil/genética
6.
Eur J Pharmacol ; 599(1-3): 117-20, 2008 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-18848828

RESUMEN

Examination was made of the direct vascular effects of the hypertension-inducing pressor hormone angiotensin II on expression and activity of the voltage-gated calcium channel Ca(V)1.2. Freshly dissected rat superior mesenteric artery beds were maintained in organ culture unpressurized for 24 h in the presence or absence of angiotensin II. Relative to controls, angiotensin II increased Ca(V)1.2 protein expression and tension-inducing activity but not Ca(V)1.2 message. The increase in Ca(V)1.2 protein expression by angiotensin II was abrogated by damaging the endothelium. Thus, the endothelium is involved in regulating Ca(V)1.2 expression in the vascular wall.


Asunto(s)
Angiotensina II/fisiología , Canales de Calcio Tipo L/metabolismo , Endotelio Vascular/metabolismo , Regulación de la Expresión Génica , Animales , Masculino , Arteria Mesentérica Superior/metabolismo , Ratas , Ratas Sprague-Dawley , Técnicas de Cultivo de Tejidos
7.
Zhonghua Bing Li Xue Za Zhi ; 37(11): 732-6, 2008 Nov.
Artículo en Zh | MEDLINE | ID: mdl-19094706

RESUMEN

OBJECTIVE: To investigate 18q21 LOH in human pancreatic ductal adenocarcinomas and chronic pancreatitis by fluorescence in-situ hybrydization (FISH) technique, and to analyze the relationship between 18q21 LOH and clinicopathologic characteristics. METHODS: RP11-729G3 and RP11-850A17, the regions on 18q21, were selected as the target fragments, the region RP11-621L6, close to the centromere of chromosome 18, was selected as the reference fragment. The specific BAC clones were used to isolate and purify the corresponding genomic DNA, which were labeled with biotin or DIG by nick translation into dual color probes. 18q21 LOH was assessed by dual-color FISH in 30 cases of pancreatic ductal adenocarcinoma and 10 cases of chronic pancreatitis. All samples were 10% formalin fixed and paraffin embedded. The relationship between 18q21 LOH and clinicopathologic characteristics was analyzed. RESULTS: Among 30 cases of pancreatic ductal adenocarcinoma, 25 cases showed LOH at the region RP11-729G3 (83.3%), and 26 cases showed LOH at the region RP11-850A17 (86.6%). Among these, 25 cases with LOH at both regions, 1 case showed LOH only at the region of RP11-850A17. No LOH was found in 10 cases of chronic pancreatitis. CONCLUSIONS: 18q21 LOH is a high-frequency event in human pancreatic ductal adenocarcinomas. LOH at the regions RP11-729G3 and RP11-850A17 demonstrates a high concordance. 18q21 may play an important role during pancreatic carcinogenesis and tumor progression. 18q21 LOH may be used as a diagnostic marker for pancreatic ductal adenocarcinoma.


Asunto(s)
Adenocarcinoma/genética , Carcinoma Ductal Pancreático/genética , Cromosomas Humanos Par 18 , Hibridación Fluorescente in Situ/métodos , Pérdida de Heterocigocidad/genética , Neoplasias Pancreáticas/genética , Pancreatitis Crónica/genética , Adenocarcinoma/clasificación , Adulto , Anciano , Carcinoma Ductal Pancreático/clasificación , Mapeo Cromosómico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/clasificación , Pancreatitis Crónica/clasificación
8.
Zhonghua Bing Li Xue Za Zhi ; 36(2): 102-6, 2007 Feb.
Artículo en Zh | MEDLINE | ID: mdl-17493384

RESUMEN

OBJECTIVE: To investigate the changes of topoisomerase IIalpha (TOP2A) and HER2/neu genes in pancreatic ductal adenocarcinomas of Chinese patients, and to determine their roles during carcinogenesis and tumor progression. METHODS: Expressions of TOP2A and HER2/neu proteins were detected by using immunohistochemistry, while gene amplifications of TOP2A and HER2/neu were assessed by using multi-color fluorescence in situ hybridization (FISH). All the samples were of paraffin embedded and 10% formalin fixed tissue, including 26 cases of pancreatic ductal adenocarcinomas with adjacent non-neoplastic pancreatic tissues, 10 cases of chronic panreatitis, and 10 cases of normal pancreas. The correlation between TOP2A and HER2/neu gene status was analyzed. RESULTS: By immunohistochemistry, the nuclear positive index of TOP2A in pancreatic ductal adenocarcinomas varied from 0.5% to 70%, and the positive rate of HER2/neu in pancreatic ductal adenocarcinomas was 46.2% (12/26). By FISH, 9/10 TOP2A amplified adenocarcinomas showed TOP2A and HER2/neu gene coamplification, while one case with HER2/neu gene amplification adenocarcinoma showed no TOP2A amplification. No expression of TOP2A, HER2/neu proteins and no amplification of TOP2A and HER2/neu gene were detected in adjacent non-neoplastic pancreatic tissues, chronic pancreatitis tissues and normal pancreas. No relationship was found between protein expression and gene amplification of TOP2A and HER2/neu (P > 0.05). TOP2A gene amplification was significantly correlated with HER2/neu gene amplification (P < 0.01). CONCLUSIONS: Protein expression of TOP2A and HER2/neu are not associated with the gene amplification. There is a significant correlation between TOP2A amplification and HER2/neu gene amplification. Co-amplification of TOP2A and HER2/neu may play an important role in the carcinogenesis and progression of pancreatic carcinoma. Evaluation of the status of TOP2A and HER2/neu may be helpful to achieve target therapy of pancreatic carcinoma.


Asunto(s)
Adenocarcinoma/genética , Antígenos de Neoplasias/metabolismo , Carcinoma Ductal Pancreático/genética , ADN-Topoisomerasas de Tipo II/metabolismo , Proteínas de Unión al ADN/metabolismo , Genes erbB-2 , Neoplasias Pancreáticas/genética , Adenocarcinoma/metabolismo , Adenocarcinoma/patología , Adenocarcinoma/secundario , Adulto , Anciano , Antígenos de Neoplasias/genética , Carcinoma Ductal Pancreático/metabolismo , Carcinoma Ductal Pancreático/patología , Carcinoma Ductal Pancreático/secundario , ADN-Topoisomerasas de Tipo II/genética , Proteínas de Unión al ADN/genética , Femenino , Amplificación de Genes , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/secundario , Metástasis Linfática , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patología , Proteínas de Unión a Poli-ADP-Ribosa , Receptor ErbB-2/genética , Receptor ErbB-2/metabolismo
9.
Chin Med J (Engl) ; 130(22): 2686-2690, 2017 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-29133756

RESUMEN

BACKGROUND: Overexpression and constitutive activation of signal transducer and activator of transcription (STAT) 3 have been suggested in the tumorigenesis of many human cancers, including multiple carcinomas, melanoma, and lymphoma. The diagnosis of hepatocellular carcinoma (HCC) in lobectomy specimens is usually straightforward, but distinguishing cirrhosis from well-differentiated HCC can be challenging in core biopsies. Our aims were to investigate the expression level of STAT3 and phosphorylated STAT3 (pSTAT3) in HCC and cirrhosis, and the application of STAT3 in the differential diagnosis of HCC and cirrhosis. METHODS: Sixty cases were divided into three groups: patients with HCC only (Group 1), HCC and cirrhosis (Group 2), and cirrhosis only (Group 3). Formalin-fixed and paraffin-embedded tissue sections were stained immunohistochemically for STAT3, pSTAT3, and CD163. The values obtained from the tissue sections of each group were compared in statistical analysis. RESULTS: STAT3 showed a high level in HCC and was a significant marker for differentiating HCC from cirrhosis (P < 0.0001). The odds ratio between HCC and cirrhosis increased 34.4 times when the intensity of STAT3 increased by 1 level. Spearman's correlation and Chi-square tests also demonstrated that expression level of STAT3 did not correlate with age, gender, or the presence of a cirrhotic background. CONCLUSIONS: STAT3 staining differs significantly in HCC and cirrhosis. The findings reinforce the role of STAT3 in the tumorigenesis of HCC and provide a useful marker to differentiate HCC from cirrhosis in challenging liver biopsies.


Asunto(s)
Carcinoma Hepatocelular/metabolismo , Neoplasias Hepáticas/metabolismo , Factor de Transcripción STAT3/metabolismo , Adulto , Carcinoma Hepatocelular/patología , Diferenciación Celular/genética , Diferenciación Celular/fisiología , Femenino , Humanos , Cirrosis Hepática/metabolismo , Cirrosis Hepática/patología , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana Edad , Fosforilación , Factor de Transcripción STAT3/genética , Transducción de Señal/genética , Transducción de Señal/fisiología
10.
Am J Hypertens ; 19(8): 823-31, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16876682

RESUMEN

BACKGROUND: The vasculature of the adult spontaneously hypertensive rat (SHR) is known to express more functional L-type Ca channels than the vasculature of normotensive Wistar Kyoto (WKY) rats, but it is not known which Ca(V)1.2 channel isoform is upregulated. METHODS: Western blots and real-time reverse transcriptase-polymerase chain reaction (RT-PCR) were used to compare the expression levels of Ca(V)1.2 channel protein and message in selected tissues of adult SHR and WKY rats. RESULTS: The results indicate overexpression in SHR vasculature specifically of the short exon 1b-encoded amino terminus Ca(V)1.2 isoform. Brain and visceral smooth muscle expressing the same isoform were not similarly affected. Differences in message levels are insufficient to account for the differences in isoform-specific protein levels. CONCLUSIONS: We conclude that SHR vasculature must regulate the channel postranscriptionally. Further experiments will be required to determine whether this involves translation of protein from exon 1b-specific transcripts more efficiently, posttranslational chaperoning to the surface membrane more efficiently, or selective degradation of the short amino terminus form of the protein more slowly than in WKY vasculature.


Asunto(s)
Empalme Alternativo/genética , Vasos Sanguíneos/metabolismo , Exones/genética , Canal de Potasio Kv.1.2/genética , Animales , Aorta/metabolismo , Masculino , Especificidad de Órganos , Ratas , Ratas Endogámicas SHR
11.
Medicine (Baltimore) ; 95(33): e4597, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27537592

RESUMEN

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem hereditary disease characterized by formation of cysts in the ductal organs. Renal pelvis malignancy in ADPKD is very rare and sporadically reported in the previous literature. Here, we report the first case of renal pelvis squamous cell carcinoma with tumor embolus in a 35-year-old ADPKD patient. The patient presented with 3 months of persistent backache and intermittent fever, and was initially diagnosed as intracystic hemorrhage with inferior vena cava thrombosis formation. As a result, he received anticoagulation therapy in a local hospital. However, his backache got worsened during the therapy, and he lost 10 kg of his body weight from the onset of illness. In our hospital, computed tomography demonstrated a heterogeneous right renal mass as well as emboli in the inferior vena cava and bilateral renal veins. Positron emission tomography computed tomography and biopsy were also performed, but the results were equivocal. Considering the patient's willingness and the potential malignancy, we performed thoracoabdominal nephrectomy and embolectomy, and histological examination made the diagnosis of renal pelvis squamous cell carcinoma. After adjuvant chemotherapy including paclitaxel and carboplatin, the patient obtained improved physical status and was disease free at the 6-month follow-up. Although rare, renal pelvis squamous cell carcinoma should be considered in the differential diagnosis of renal mass in ADPKD patients. CONCLUSION: Our case suggested surgery combined with adjuvant chemotherapy might be effective treatments in such a condition.


Asunto(s)
Carcinoma de Células Escamosas/complicaciones , Neoplasias Renales/complicaciones , Pelvis Renal , Células Neoplásicas Circulantes/patología , Riñón Poliquístico Autosómico Dominante/complicaciones , Adulto , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/patología , Humanos , Neoplasias Renales/diagnóstico , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Pelvis Renal/diagnóstico por imagen , Pelvis Renal/patología , Masculino , Riñón Poliquístico Autosómico Dominante/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones
12.
Brain Dev ; 38(1): 40-6, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26183863

RESUMEN

OBJECTIVE: Evaluation of the efficacy of antiepileptic drugs (AEDs) used in the treatment of Dravet syndrome (DS) with different genotypes. METHODS: Patients with DS were recruited from different tertiary hospitals. Using a direct sequencing method and Multiplex Ligation-Dependent Probe Amplification (MLPA), genetic abnormalities were assessed within the exons and flanking introns of SCN1A gene, which encodes the α1 subunit of neuronal sodium channels. Patients were divided into SCN1A-positive and SCN1A-negative groups according to the results of genetic tests. Medical records, including detailed treatment information, were surveyed to compare the effect of different AEDs on clonic or tonic-clonic seizures (GTCS). Efficacy variable was responder rate with regard to seizure reduction. RESULTS: One hundred and sixty of 276 (57.97%) patients had mutation in SCN1A gene (only 128 of them had provided detailed medical records). Among the 116 patients without SCN1A mutations, 87 had provided detailed medical records. Both older AEDs (valproate, phenobarbital, bromide, carbamazepine, clonazepam, and clobazam) and newer AEDs such as zonisamide were used in these patients. Valproate was the most frequently used AED (86.72% in the SCN1A-positive group, 78.16% in the SCN1A-negative group), with 52.25% and 41.18% responder rates in SCN1A-positive and SCN1A-negative patients, respectively (P=0.15). Bromide was used in 40.63% of the SCN1A-positive patients and 20.69% of the SCN1A-negative patients, and its responder rates were 71.15% and 94.44% in SCN1A-positive and SCN1A-negative patients, respectively (P=0.05). Efficacy rates of clonazepam, clobazam, phenobarbital, and zonisamide ranged from 30% to 50%, and these rates were not correlated with different genotypes (P>0.05). Carbamazepine had either no effect or aggravated seizures in all SCN1A-positive patients. SIGNIFICANCE: Bromide is most effective and is a well-tolerated drug among DS patients, especially among SCN1A-negative patients. Carbamazepine should be avoided in patients with SCN1A mutations.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/genética , Canal de Sodio Activado por Voltaje NAV1.1/genética , Adolescente , Adulto , Anticonvulsivantes/efectos adversos , Bromuros/efectos adversos , Bromuros/uso terapéutico , Carbamazepina/efectos adversos , Carbamazepina/uso terapéutico , Niño , Preescolar , Epilepsias Mioclónicas/fisiopatología , Femenino , Genotipo , Técnicas de Genotipaje , Humanos , Lactante , Masculino , Mutación , Estudios Retrospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/genética , Convulsiones/fisiopatología , Resultado del Tratamiento , Adulto Joven
13.
Cell Calcium ; 37(4): 301-9, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15755491

RESUMEN

The expression of two different transcripts for Ca(V)1.2 in rat tissues mirrors that which has previously been described for human tissue, in that expression of transcripts expressing exon 1a is predominant only in heart, whereas expression of transcripts expressing exon 1b is greater in smooth muscle rich tissues such as aorta and intestine. Transcripts expressing exon 1b also predominate in brain and in diaphragm. Western blots indicate that the N-terminus coded for by exon 1b is present in much of the protein in all these tissues except heart. The promoter just upstream of exon 1b has been cloned, sequenced and utilized to drive expression of luciferase in smooth muscle A7r5 cells, cardiac HL-1 cells, skeletal muscle L6 cells and neuronal PC12 cells. The nucleotide sequence of the promoter exhibits 80% identity with the equivalent promoter previously identified in humans and 94% identity with the sequence of the equivalent region of the mouse genome. Evidence in favor of still another promoter upstream of exon 2 has been uncovered.


Asunto(s)
Canales de Calcio Tipo L/biosíntesis , Regiones Promotoras Genéticas , Animales , Secuencia de Bases , Encéfalo/metabolismo , Diafragma/metabolismo , Exones , Expresión Génica , Humanos , Masculino , Ratones , Datos de Secuencia Molecular , Músculo Liso/metabolismo , Miocardio/metabolismo , Células PC12 , Ratas , Ratas Sprague-Dawley , Ratas Wistar , Análisis de Secuencia de ADN
14.
Zhonghua Nei Ke Za Zhi ; 44(12): 894-7, 2005 Dec.
Artículo en Zh | MEDLINE | ID: mdl-16409722

RESUMEN

OBJECTIVE: To investigate the clinical and pathological characteristics, treatment measures and prognosis of pseudomyxoma peritonei (PMP). METHODS: The clinical records and follow-up data of the patients with PMP were retrospectively analyzed. Survival analysis (Kaplan-Meier method and Cox regression) was used to investigate the prognosis. RESULTS: Thirty-three patients (twenty-two women, eleven men) have a median interval between onset and definite diagnosis of 12 months with an average age of 50. The main clinical presentation includes bloating, abdominal mass and abdominal distention. A delay in diagnosis is common and many patients are labeled as other diseases (84.8%). Positive results were often found in the assistant examinations such as erythrocyte sedimentation rate, gastrointestinal tumor markers (carcinoembryonic antigen, carcinomatous antigen 19-9 and so on), imaging (B ultrasound and computer tomography) and abdominal paracentesis which was usually unsuccessful. The most frequently practiced approach is debulking surgery with the main assistant means of chemotherapy which was lack of the uniform rationale. Benign type of pathological samples accounts for 66.7% of all, while mid-type 21.2% and malignant 12.1%. The general median survival time is 70 months with a follow-up rate of 79%. The pathological type and chemotherapy are main factors which influence the cumulative survival rate (P < 0.05). Up to the end of 2004, sixteen patients died of various complications, multiple organ failure and severe infection, while ten patients survival and seven patients lost. CONCLUSIONS: PMP is a rare condition of borderline malignancy with its unique clinical and pathological characteristics. Gastrointestinal tumor markers, imaging and abdominal paracentesis are very important to the diagnosis. The existing treatment measures need to be improved further. The pathological type and chemotherapy are main factors which influence the prognosis.


Asunto(s)
Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/patología , Seudomixoma Peritoneal/diagnóstico , Seudomixoma Peritoneal/patología , Adolescente , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Peritoneales/terapia , Pronóstico , Seudomixoma Peritoneal/terapia , Estudios Retrospectivos , Análisis de Supervivencia
15.
Zhonghua Bing Li Xue Za Zhi ; 33(2): 117-9, 2004 Apr.
Artículo en Zh | MEDLINE | ID: mdl-15132846

RESUMEN

OBJECTIVE: To study the clinical manifestations and pathologic findings of paragonimiasis. METHODS: Nine cases of paragonimiasis diagnosed in the Peking Union Medical College Hospital during the past 20 years were studied, with literature review and analysis of the epidemiological, clinical and pathologic characteristics. RESULTS: Of the 9 cases studied, 4 came from the northeast China and 5 from Beijing. Eight cases had a history of eating raw crabs. Most had symptoms including fever, chest discomfort or pain, and hemoptysis or rusty sputum. All had the following common pathologic features: formation of irregular lacunae or sinus tracts, Charcot-Leyden crystals, sometimes paragonimus body parts and/or eggs, and eosinophil infiltration in the adjacent tissues. CONCLUSIONS: Paragonimiasis is not as uncommon as previously thought. The incidence is increasing in some cities due to movement of populations. The pathological diagnosis can be confirmed by finding paragonimus body parts and/or eggs. Diagnosis can also be made by correlation with other typical pathologic features, clinical history, immunologic findings and radiography. Paragonimiasis needs to be differentiated from pulmonary tuberculosis and cancer.


Asunto(s)
Enfermedades Pulmonares Parasitarias/patología , Paragonimiasis/patología , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Enfermedades Pulmonares Parasitarias/diagnóstico , Neoplasias Pulmonares/diagnóstico , Masculino , Persona de Mediana Edad , Paragonimiasis/diagnóstico , Tuberculosis Pulmonar/diagnóstico
16.
Respir Med ; 107(1): 120-7, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23085212

RESUMEN

BACKGROUND: Nonspecific interstitial pneumonia (NSIP) is characterized by the interstitial infiltration T lymphocytes (TLs). Bronchoalveolar lavage fluid (BALF) has been used to analyze the inflammatory cells infiltrating in lung. The controversy about whether the BALF cellular profile reflects T lymphocytes in lung tissue still persists. Some studies found a positive correlation of cell composition between BALF and lung tissue, but others gave opposite conclusion. OBJECTIVE: To investigate CD4+ and CD8+ T lymphocytes distribution in lung tissue of NSIP and the relationship with T lymphocytes in bronchoalveolar lavage. METHODS: Thirty-seven patients diagnosed as NSIP were included. The pathological and BALF date were reviewed. The characteristics of TLs infiltration in different lung regions were investigated. RESULTS: The study included 28 women. The median age was 48 years. In lung tissue, CD4+ and CD8+ lymphocytes (counts/0.1mm2) were separately accounted in lymphoid follicle region (156.51 ± 90.70 vs 85.30 ± 43.75), small blood vessel region (66.58 ± 31.99 vs 58.43 ± 30.24), interstitial region (37.60 ± 19.40 vs 47.12 ± 33.42) and small airway region (26.59 ± 17.04 vs 40.18 ± 34.02). CD4+/CD8+ ratios in lymphoid follicle and small vessel > 1, in interstitium and small airway <1. The number of CD8+ lymphocytes in BALF was correlated with CD8+ lymphocytes around small airway (r = 0.360, p = 0.029) and in interstitial region (r = 0.451, p = 0.005). CD4+/CD8+ ratio in BALF was correlated with that in small airway region (r = 0.437, p = 0.007) and interstitial region (r = 0.468, p = 0.003). CONCLUSIONS: In NSIP, T lymphocytes were distributed in different regions of lung tissue. The CD8+ T lymphocytes and CD4+/CD8+ ratio in BALF reflect those in interstitium regions and around small airway of the lung.


Asunto(s)
Líquido del Lavado Bronquioalveolar/inmunología , Linfocitos T CD4-Positivos/inmunología , Linfocitos T CD8-positivos/inmunología , Neumonías Intersticiales Idiopáticas/inmunología , Pulmón/inmunología , Adulto , Anciano , Biopsia , Relación CD4-CD8 , Femenino , Estudios de Seguimiento , Humanos , Neumonías Intersticiales Idiopáticas/patología , Pulmón/patología , Recuento de Linfocitos , Subgrupos Linfocitarios/inmunología , Masculino , Persona de Mediana Edad , Adulto Joven
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