RESUMEN
Due to its high incidence and mortality rates, the colorectal carcinoma represents a crucial medical issue. However, when it is detected in early stage there is high rate of successful treatment. Thats why, early stage cancer screening programmes were introduced into the clinical practice. They focus on the finding of hidden bleeding, using various laboratory techniques, sigmoidoscopy, and, primarily, colonoscopy. However, screening programmes have not yet reached the effect required. New techniques are therefore being developed, such as the detection of blood bio-markers. This group includes also methylated SEPT9 (mSEPT9) detection in blood. We applied this test on 57 patients; we divided the group into two parts. There were 33 asymptomatic individuals in the first group. In this group, we were got only one positive mSEPT9 result. The consequent colonoscopies were negative. The other group had 24 proven carcinomas. Of them, two had negative mSEPT9 results. The remaining in all 22 patients was tested mSEPT9 positive. After its efficiency is tested by further studies, this test may be used especially for patients with low compliance, as it only requires routine blood drawing.
Asunto(s)
Biomarcadores de Tumor/sangre , Neoplasias Colorrectales/sangre , Neoplasias Colorrectales/diagnóstico , Detección Precoz del Cáncer , Septinas/sangre , Adulto , Anciano , Colonoscopía , Neoplasias Colorrectales/patología , Diagnóstico Precoz , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Valor Predictivo de las Pruebas , Estudios Retrospectivos , SigmoidoscopíaRESUMEN
To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about 2,000 control region sequences sampled in eastern (Russians, Belorussians, and Ukrainians) and western (Poles, Czechs, and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described only partially. Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times ( approximately 12,000-19,000 years before present [YBP]) in eastern Europe. In addition, an ancient connection between the Caucasus/Europe and India has been revealed by analysis of haplogroup R1 diversity, with a split between the Indian and Caucasus/European R1a lineages occurring about 16,500 years ago. Meanwhile, some mtDNA subgroups detected in Slavs (such as U4a2a, U4a2*, HV3a, and R1a1) are definitely younger being dated between 6,400 and 8,200 YBP. However, robust age estimations appear to be problematic due to the high ratios of nonsynonymous to synonymous substitutions found in young mtDNA subclusters.
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ADN Mitocondrial/genética , Etnicidad/genética , Evolución Molecular , Haplotipos/genética , Filogenia , Secuencia de Bases , Europa Oriental , Humanos , Datos de Secuencia Molecular , Polimorfismo de Longitud del Fragmento de Restricción/genética , Análisis de Secuencia de ADNRESUMEN
To gain insight into the mitochondrial gene pool diversity of European populations, we studied mitochondrial DNA (mtDNA) variability in 207 subjects from western and eastern areas of Slovakia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding region haplogroup-specific RFLP-markers, revealed that the majority of Slovak mtDNAs belong to the common West Eurasian mitochondrial haplogroups (HV, J, T, U, N1, W, and X). However, a few sub-Saharan African (L2a) mtDNAs were detected in a population from eastern part of Slovakia. In addition, about 3% of mtDNAs from eastern Slovakia encompass Roma-specific lineages. By means of complete mtDNA sequencing we demonstrate here that the Roma-specific M-lineages observed in gene pools of different Slavonic populations (Slovaks, Poles and Russians), belong to Indian-specific haplogroups M5a1 and M35. Moreover, we show that haplogroup J lineages found in gene pools of the Roma and some Slavonic populations (Czechs and Slovaks) belong to new subhaplogroup J1a, which is defined by coding region mutation at position 8460.
Asunto(s)
ADN Mitocondrial/genética , Variación Genética , Genética de Población , Filogenia , Dinámica Poblacional , Romaní/genética , Población Blanca/genética , Secuencia de Bases , Haplotipos/genética , Humanos , Datos de Secuencia Molecular , Polimorfismo de Longitud del Fragmento de Restricción , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: The leukemia inhibitory factor (LIF) is one of the most important signaling factors in the embryo-maternal cross talk during the embryo implantation. We investigated the prevalence of the LIF gene mutations in the population of infertile women and their impact on infertility treatment. DESIGN: A cohort study. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine and University Hospital of Charles University, Pilsen. SUBJECTS AND METHODS: The population to screen consisted of 399 infertile women. The control population was comprised of 202 healthy fertile subjects. For the mutational analysis, the temperature gradient gel electrophoresis (TGGE) followed by subsequent sequencing of the positive samples, had been used. The groups of fertile controls and infertile patients were compared for statistically significant difference using the Fisher's 2 by 2 Exact test. RESULTS: Twelve potentially functional LIF gene mutations, the G to A transversion at the position 3400 leading to the valin to methionin exchange at codon 64 (V64M) were detected in the group of infertile women. No mutations were identified in the control group, which means that the frequency of functionally relevant mutations of the LIF gene in infertile women is significantly enhanced in comparison with controls (P = 0.01, Fisher's 2 by 2 Exact test ). Seven of these patients were successfully treated by in vitro fertilization (IVF). CONCLUSION: The results suggest that the LIF gene mutation, the heterozygote G to A transition on the position 3400, affects fertility but the infertility treatment can succeed. Even though LIF gene mutations occur infrequently and can be overcome by infertility treatment, their impact on molecular events during early phases of pregnancy should be further elucidated.
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Fertilización In Vitro , Heterocigoto , Infertilidad Femenina/genética , Factor Inhibidor de Leucemia/genética , Mutación Puntual , Femenino , Humanos , Infertilidad Femenina/terapia , EmbarazoRESUMEN
To characterize the impact of the potentially functional mutation--the G to A transition at the position 3400 of the leukemia inhibitory factor (LIF; a pluripotent cytokine that plays a central role in the control of the embryo implantation) gene that leads to the exchange of valine with methionine at codon 64 we evaluated the association of the LIF gene mutation and the levels of antiphospolipid antibodies (aPLs) in the peripheral blood of infertile women (the aPLs examination was part of our routine immunological test during the infertility check-up). Eight infertile mutation-positive women were diagnosed with idiopathic infertility (n=5) and endometriosis (n=3) and their levels of aPLs in serum were compared with 115 infertile women without any LIF gene mutation. Enzyme-linked immunosorbent assay was used for the detection of seven antiphospholipid antibodies; the results were statistically assessed by the Fisher's 2 by 2 exact test to evaluate the association of the LIF gene mutations and aPLs in serum of infertile patients. The presence of aPLs was significantly higher in our study group (100%) than in 30% of aPLs-positives in control infertile patients (p = 0.0035) which indicates that the aPLs are elevated in women with LIF gene mutations.
Asunto(s)
Anticuerpos Antifosfolípidos/sangre , Infertilidad Femenina/genética , Infertilidad Femenina/inmunología , Factor Inhibidor de Leucemia/genética , Mutación Puntual , Adulto , Anticuerpos Antifosfolípidos/inmunología , Endometriosis/sangre , Endometriosis/genética , Endometriosis/inmunología , Ensayo de Inmunoadsorción Enzimática , Femenino , Análisis Heterodúplex/métodos , Humanos , Infertilidad Femenina/sangre , Análisis de Secuencia de ADNRESUMEN
Laboratories dealing with human genome, both inherited and acquired changes, dispose with similar methods and technology. The spectrum of genetic tests is relatively broad and the number of mutations or variants tested differs substantially. Also the number of examinations carried out in individual laboratories varies. Data presented in the tables come from the year 2004 and indicate the number of examinations requested and number of positive results. Many laboratories mentioned in the registry CZDDNAL (http://www.uhkt.cz/lab_a_vysetreni/nr lab_dna_diag/dna_lab_db) perform the same tests but there is also a great number of tests carried out by only one laboratory. Reasons of the request, cost-effectiveness and clinical utility of genetic testing is being discussed.
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Frecuencia de los Genes , Técnicas Genéticas , Genoma Humano/genética , HumanosRESUMEN
Imatinib, a tyrosine kinase inhibitor, is currently the therapy of choice for gastrointestinal stromal tumor (GIST). The toxic effects of imatinib treatment are usually mild, and serious adverse events are rare. We report here the case of a patient with peritoneal metastases of GIST involving the pelvis treated by imatinib. Abdominal pain deteriorated early in the course of the therapy along with the enlargement of the tumors. The patient died suddenly, and the autopsy revealed pulmonary embolism originating from the deep vein thrombosis caused by the compression of common iliac vein by the tumor. The possibility of deep vein thrombosis caused by the compression of the veins by necrotic tumor should be considered in patients with abdominal or pelvic metastases of GIST, including patients treated with imatinib.
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Antineoplásicos/efectos adversos , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Piperazinas/efectos adversos , Pirimidinas/efectos adversos , Tromboembolia/inducido químicamente , Autopsia , Benzamidas , Resultado Fatal , Tumores del Estroma Gastrointestinal/patología , Humanos , Mesilato de Imatinib , Masculino , Persona de Mediana Edad , Tromboembolia/patologíaRESUMEN
OBJECTIVE: To describe tumors occurring in two cases of testicular feminization syndrome. SUBJECT: Case report. SETTING: Dpt. of Special Diagnostics SPAU, University Hospital Plzen. SUBJECT AND METHOD: Two cases of testicular feminization syndrome were selected from four cases in our registry. Patients were 45 and 84-year-old Caucasian "females". Resected material was fixed in formaldehyde, routinely processed and stained with hematoxiline-eosin, inhibin, cytokeratines 20, placentar alkaline phosphatase, CD 99, Melan A, hCG. Sertoli cell adenoma was diagnosed in both patients. Older patient had in addition unclassified sex cord tumor of Leydig cell type. The number of sex chromosomes was examined using FISH analysis in both patients. CONCLUSION: Patients with testicular feminization syndrome are frequently affected by benign or malignant tumors in the cryptorchid testes. We documented two benign Sertoli cell adenomas and one sex cord tumor of uncertain biological behavior in our patients. The testes should be removed after puberty with subsequent estrogen therapy in patients with testicular feminization syndrome.
Asunto(s)
Síndrome de Resistencia Androgénica/complicaciones , Tumor de Células de Sertoli/complicaciones , Neoplasias Testiculares/complicaciones , Anciano , Anciano de 80 o más Años , Humanos , Masculino , Persona de Mediana EdadRESUMEN
We present clinical, morphological, immunohistochemical, ultrastructural and molecular genetic features of 20 cases of a peculiar form of chromophobe renal cell carcinoma (CRCC) with morphology differing from that of conventional CRCC. Microscopically, the typical features of the tumors were microcystic arrangement and formation of adenomatous structures. Microcystic areas were composed of smaller eosinophilic and bigger pale cells having cytological appearance typical of conventional CRCC. Cytological features of the adenomatous structures were mostly different from those of conventional CRCC. They had a typical columnar arrangement with nuclei positioned at the base of the glandular structures and a small amount of a deeply eosinophilic cytoplasm often endowed with brush border facing the lumen of the glands. In addition, all the tumors showed a brown pigmentation. The pigmentation was located mostly extracellularly, where it formed pools of heavy deposits. Microscopic calcifications present in all cases formed psammoma bodies or else the calcifications were more extensive and amorphous in shape. Ultrastructurally, the cells showed features characteristic of CRCC: typical cytoplasmic vesicles were 100-700 nm in size and mitochondria had tubulovesicular, lamellar or circular cristae. Some tumor cells contained dark, variously sized electron-dense pigment granules. Neither melanosomes nor membrane-bound neurosecretory granules were seen. Using fluorescence in-situ hybridization probes for chromosomes 1, 2, 6, 10, 13, 17 and 21, the tumors revealed massive loss of tested chromosomes typical for conventional CRCC. Monosomy of chromosomes 1, 2, 6, 10, 13 and 21 was found in 100, 36, 91, 82, 82, 82 and 64% of cases, respectively. None of the cases showed mutation of exons 9, 11, 13 and 17 of the c-kit gene. The important feature of pigmented microcystic chromophobe renal cell carcinoma is a relatively benign biological behavior and the absence of distant metastases and sarcomatoid transformation.
Asunto(s)
Adenoma Oxifílico/patología , Carcinoma de Células Renales/patología , Neoplasias Renales/patología , Células Oxífilas/ultraestructura , Adenoma Oxifílico/genética , Adenoma Oxifílico/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/metabolismo , Citoplasma/ultraestructura , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Técnicas para Inmunoenzimas , Hibridación Fluorescente in Situ , Neoplasias Renales/genética , Neoplasias Renales/metabolismo , Masculino , Persona de Mediana Edad , Pigmentos BiológicosRESUMEN
In order to identify polymorphic sites and to find out their frequencies and the frequency of haplotypes, the complete D-loop of mitochondrial DNA (mtDNA) from 93 unrelated Czech Caucasians was sequenced. Sequence comparison showed that 85 haplotypes were found and of these 78 were unique, 6 were observed twice and 1 was observed three times. Genetic diversity (GD) was estimated at 0.999 and the probability of two randomly selected sequences matching (random match probability, RMP) at 1.2%. Additionally these calculations were carried out for hypervariable regions 1, 2 (HV1, HV2), for the area between HV1 and HV2 and for the area of the hypervariable region HV3. The average number of nucleotide differences (ANND) was established to be 10.2 for the complete D-loop. The majority of sequence variations were substitutions, particularly transitions. Deletions were found only in the region where HV3 is situated and insertions in the same place and in poly-C tracts between positions 303 and 315 in HV2. A high degree of length heteroplasmy was found especially in the regions of poly-C tracts between positions 16184 and 16193 in HV1 and between positions 303 and 315 in HV2. Position heteroplasmies were found in two cases.
Asunto(s)
Regiones Determinantes de Complementariedad/genética , ADN Mitocondrial/genética , Genética de Población , República Checa , Medicina Legal , Variación Genética , Haplotipos , Humanos , Análisis de Secuencia de ADNRESUMEN
Cell cycle progression is governed by cyclin dependent kinases (CDK) that are activated by cyclin binding and inhibited by CDK inhibitors. Protein p27Kip1 functions as a CDK inhibitor, which controls the progression from G1 to S phase. Further, p27Kip1 may have a positive regulative influence. In nonneoplastic tissues and in the majority of tumors investigated so far, the immunohistochemical positivity of p27Kip1 showed an inversely proportional relationship to the proliferation index. Among B-cell non-Hodgkin lymphomas, the exceptions to this rule are represented by mantle cell lymphoma, hairy cell leukemia, and the immunoblastic Epstein-Barr virus latent membrane antigen positive diffuse large B-cell lymphoma in AIDS patients. The loss of p27Kip1 expression is a negative prognostic factor in numerous tumors, including the majority of B-cell lymphomas.
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Proteínas de Ciclo Celular/fisiología , Ciclo Celular/fisiología , Quinasas Ciclina-Dependientes/antagonistas & inhibidores , Tejido Linfoide/química , Linfoma de Células B/química , Proteínas Supresoras de Tumor/fisiología , Proteínas de Ciclo Celular/análisis , División Celular , Inhibidor p27 de las Quinasas Dependientes de la Ciclina , Humanos , Inmunohistoquímica , Tejido Linfoide/fisiología , Linfoma de Células B/fisiopatología , Proteínas Supresoras de Tumor/análisisRESUMEN
BACKGROUND: HER-2/neu protein overexpression has been shown to be an independently adverse prognostic and predictive factor in patients with breast cancer. Recently, HER-2/neu overexpression has gained therapeutic implications: It has been shown that in patients with breast cancer the use of trastuzumab/Herceptin TM, the recombinant humanized monoclonal antibody directed against extracellular domain of HER-2/neu molecule, can block the HER-2/neu protein activation and bring about a clinical remission. Following these developments, demand for pathologists to evaluating properly HER-2/neu in breast cancer specimens has been rapidly increasing. METHODS AND RESULTS: In our series of 449 cases of breast cancer, HER-2/neu protein and gene were examined by means of immunohistochemistry and fluorescence in situ hybridization respectively. Results of HER-2/neu study were compared with the hormonal status, cancer grade and proliferation activity as assessed using immunohistochemistry with MIB1 antibody. All seven cases of breast cancer with strong overexpression of HER-2/neu (score 3+) manifested a gene amplification. In contrast, among 11 cases of breast cancers with mild HER-2/neu overexpression (score 2+), the gene amplification was demonstrated in 5 cases only (45%). CONCLUSIONS: Immunohistochemical assessment and fluorescence in situ hybridization (FISH) are complementary methods for detection of HER-2/neu status in breast cancer. While immunohistochemistry is an excellent screening method, FISH should be used for the confirmation of positive results before the Herceptin treatment.
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Neoplasias de la Mama/química , Genes erbB-2 , Receptor ErbB-2/análisis , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Receptores de Estrógenos/análisis , Receptores de Progesterona/análisisRESUMEN
AIMS: Salivary duct carcinoma is a highly malignant salivary gland tumour with aggressive clinical behaviour, characterized by histological resemblance to invasive ductal carcinoma of the breast. Amplification of HER-2/neu oncogene and over-expression of its gene product have both prognostic and therapeutic implications in breast cancer. Recent report on salivary duct carcinomas for HER-2/neu using immunohistochemistry (IHC) has shown over-expression in most cases. However, correlation between IHC and molecular genetic analysis of HER-2/neu in salivary duct carcinoma has not yet been performed. METHODS AND RESULTS: We have now evaluated 11 cases of salivary duct carcinomas for HER-2/neu status using IHC and fluorescent in-situ hybridization (FISH). To our knowledge, this is the first molecular genetic analysis of HER-2/neu in salivary duct carcinoma. CONCLUSIONS: In immunohistochemistry, over-expression of HER-2/neu protein was identified as distinct membrane staining in most carcinoma cells in all our salivary duct carcinoma cases, while only four cases revealed an amplification of HER-2/neu gene by means of FISH analysis. Both amplified and non-amplified salivary duct carcinomas with strong immunohistochemical staining for HER-2/neu protein were associated with poor clinical outcome for the patients. Apparently, HER-2/neu protein over-expression could also be controlled by mechanisms other than gene amplification. In the group of salivary gland tumours other than salivary duct carcinoma, strong over-expression was detected only in three cases of carcinoma ex pleomorphic adenoma. Thus, over-expression of HER-2/neu protein is also a useful marker of malignant transformation in pleomorphic adenomas.
Asunto(s)
Carcinoma/metabolismo , Expresión Génica/genética , Genes erbB-2 , Neoplasias de la Parótida/metabolismo , Receptor ErbB-2 , Conductos Salivales , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/genética , Carcinoma/secundario , Femenino , Amplificación de Genes , Humanos , Técnicas para Inmunoenzimas , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Neoplasias de la Parótida/genética , Neoplasias de la Parótida/patología , Receptor ErbB-2/genética , Receptor ErbB-2/metabolismo , Conductos Salivales/patologíaRESUMEN
In the presented study we have evaluated short-term and long-term results of the multiple aortocoronary bypass surgery in the patients with ischemic heart disease. We have compared the incidence of the preoperative and postoperative complications, short-term and long-term mortality in the group of diabetics in comparison to nondiabetics as well as the entry characteristics of both groups. Among 2518 patients who were treated with aortocoronary bypass surgery there were 773 (30.6%) diabetics. The diabetic patients were significantly elder, we have found more women among them, more frequent presence of hypertension, chronic heart failure and peripheral vascular disease. Contrary in the incidence of the previous myocardial infarction we have not found any significant difference between both groups. The patients with diabetes mellitus had lower ejection fraction of the left ventricle and significantly more extensive coronary artery disease which explains that in this group of patients the number of coronary bypasses was significantly higher. Comparing the incidence of preoperative complications we have not seen any significant difference between the patients with and without diabetes mellitus. Out of the postoperative complications we have noticed significantly more renal failure, infectious complications, low cardiac output syndrome and bleeding disorders in the diabetic patients. The duration of hospitalisation in the intensive care unit was significantly longer in diabetics (55.11 +/- 89.09 hours to 47.84 +/- 65.18 hours in nondiabetics, p < 0.05). 30 days mortality in diabetics was 3.75% and 2.4% in nondiabetics (p < 0.05). This difference was mainly due to the significantly higher incidence of multiorgans failure as a cause of death among diabetics (1.3% in diabetics, 0.5% in nondiabetics, p < 0.05). 89.1% of nondiabetics and 86.9% of diabetics lived 2-6 years after aortocoronary bypass surgery (n.s.). We have found the significantly higher long-term cardiovascular mortality (2-6 years) in diabetics (10.3%) then in nondiabetics (7.6%, p < 0.05).
Asunto(s)
Puente de Arteria Coronaria , Enfermedad Coronaria/cirugía , Complicaciones de la Diabetes , Puente de Arteria Coronaria/efectos adversos , Enfermedad Coronaria/complicaciones , Enfermedad Coronaria/mortalidad , Enfermedad Coronaria/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Estudios Retrospectivos , Volumen Sistólico , Tasa de SupervivenciaRESUMEN
In our study we have examined 198 patients admitted to hospital for shortness of breath at rest due to left ventricle failure. We have divided the patients into two groups according to the presence of diabetes mellitus. We have excluded the patients with noncardiac cause of pulmonary congestion, with valvular or congenital heart disease and with acute coronary syndromes. We have evaluated the presence of hypertension, value of blood sugar on admission, systolic and diastolic blood pressure, heart rate and medication given for heart insufficiency. We have also compared two dimensional transthoracal echocardiogaphic examination in diabetics to nondiabetics. Finally we compared hospital mortality in both groups. Diabetes mellitus (all the patients were type 2 diabetics) was present in 94 patients (47,5 %), in the group of diabetics there were 50 women, in nondiabetics 52 women (n.s.). The average age of diabetics was 75,5 +/- 8 years and 76,6 +/- 10,1 years in nondiabetics (n.s.). History of hypertension had 45 nondiabetics (43 %) and 69 diabetics (73,5 %), p < 0.05. Systolic blood pressure was significantly higher in diabetics 151 +/- 20,8 mm Hg to 140,5 +/- 18,4 mm Hg in nondiabetics, p < 0.05. The values of diastolic pressure and heart rate were comparable in both groups. We have not noticed any significant difference in the application of ACE inhibitors, beta blockers and diuretics for heart failure in both groups. Echocardiographic examination revealed the significantly higher ejection fraction of left ventricle in diabetics as well as the thicker septum and posterior wall of left ventricle. These findings support the role of the diastolic dysfunction in pathogenesis of left ventricle failure. In hospital mortality rate was 8,5 % in diabetics and 7,6 % in nondiabetics (n.s.). Our results confirmed that in pathogenesis of left ventricle failure hypertension and elevated systolic blood pressure play the important part. Apart from the complex secondary prevention of ischemic heart disease the correct treatment of hypertension represents the very important part of the prevention of left ventricle failure. The role of the proper compensation of diabetes mellitus in the prevention of left ventricle failure is also discussed.
Asunto(s)
Diabetes Mellitus Tipo 2/complicaciones , Disnea/complicaciones , Ecocardiografía , Insuficiencia Cardíaca/diagnóstico , Disfunción Ventricular Izquierda/diagnóstico , Anciano , Femenino , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Mortalidad Hospitalaria , Humanos , Hipertensión/complicaciones , Masculino , Disfunción Ventricular Izquierda/diagnóstico por imagenRESUMEN
Salivary duct carcinoma (SDC) is highly malignant salivary gland tumour with aggressive clinical behaviour, characterised by its histological resemblance to invasive ductal carcinoma of the breast. Amplification of gene HER-2/neu and overexpression of its gene product have been shown to have both prognostic and treatment implications in breast cancer. The reports concerning the expression of c-erbB2/HER-2/neu in salivary gland tumours are few and controversial. Thus, eleven cases of SDC were evaluated for HER-2/neu status using immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH). To the best of our knowledge, this is the first molecular genetic analysis of SDCs using FISH. HER-2/neu overexpression, identified as strong membrane staining, was observed in all but one case of SDC in majority of neoplastic cells while only four tumours, of nine cases analysed, revealed HER-2/neu gene amplification by means of FISH analysis. SDCs were associated with poor clinical outcome, 6 patients (55%) died of disseminated carcinoma within 4 to 44 months after therapy. There was no difference in outcome of patients with IHC positive-nonamplified and IHC positive-amplified tumours.
Asunto(s)
Carcinoma/química , Amplificación de Genes , Genes erbB-2/genética , Neoplasias de la Parótida/química , Receptor ErbB-2/análisis , Conductos Salivales , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/genética , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Neoplasias de la Parótida/genética , Estudios RetrospectivosRESUMEN
Congenital heart disease of adults is a new area of cardiology with specific diagnostic, therapeutic, social and economic problems of these patients. The First Medical Clinic of the Second Medical Faculty, Charles University assembled so far data on more than 1200 adult patients with congenital heart disease from different districts in Bohemia and Moravia. Atrial septal defects are recorded most frequently (25.7%), followed by ventricular septal defects (25.0%) and coarctation of the aorta (12.4%). 50.3% of the patients were treated by surgery, most frequently patients with a patent ductus arteriosus--in 83.8%, with coarctation of the aorta (82.8%) and an atrial septal defect (60.5%). The authors review reasons why for the care of these patients in other countries specialized centres developed and the foundation of such a centre in the Czech Republic is discussed.
Asunto(s)
Cardiopatías Congénitas , Adulto , Factores de Edad , República Checa/epidemiología , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/cirugía , HumanosRESUMEN
At the First Medical Clinic of the Faculty Hospital in Prague 5 Motol a group of 15 men and 14 women treated on account of type I diabetes for a mean period of 12.8 +/- 5.8 years was examined. Their mean age was 26.3 +/- 5.8 years and their BMI 23.91 +/- 2.82. The control group was formed by 18 healthy subjects (10 men and 8 women) mean age 23.8 +/- 8.9 years, BMI 22.44 +/- 2.48. All subjects were subjected to a detailed ultrasonographic examination and, assessment of microalbuminuria. From the assembled sonomorphometric data the volume of the right kidney was related to the BMI and thus the renal volume index (RVI) was obtained. In the group of diabetic subjects a statistically significant correlation was found between RVI and microalbuminuria (r = 0.574, p < 0.01). In the group of patients with RVI higher than 7.44 a close correlation was found between microalbuminuria and RVI (r = 0.993, p < 0.05). In the group of patients with a duration of diabetes under 5 years no correlation between the investigated parameters and the RVI was found, nor a mutual correlation of parameters. In patients with diabetes persisting for 5-20 years correlation was found between microalbuminuria and RVI (r = 0.686, p < 0.01). In the group of patients with diabetes for more than 20 years there was no correlation between RVI and other indicators.
Asunto(s)
Nefropatías Diabéticas/diagnóstico por imagen , Riñón/diagnóstico por imagen , Adulto , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Femenino , Humanos , Masculino , UltrasonografíaRESUMEN
Impaired left ventricular diastolic function is an indicator of early stages of heart disease. In cardiac failure it is not necessarily associated with impaired systolic function and correlates more closely with clinical symptoms or load tolerance. Pharmacotherapy leading to improved diastolic parameters improves also the clinical condition of cardiac failure. Based on data in the literature, the authors analyze drugs which exert a favourable effect on left ventricular diastolic function: ACE inhibitors, calcium channel blockers, beta adrenergic agonists, phosphodiesterase inhibitors, diuretic and direct vasodilating agents, from the aspect of clinical administration.
Asunto(s)
Insuficiencia Cardíaca/tratamiento farmacológico , Función Ventricular Izquierda/efectos de los fármacos , Diástole , Insuficiencia Cardíaca/fisiopatología , HumanosRESUMEN
The authors give an account of their experience with transesophageal echocardiography (TEE) in 61 adult patients with congenital heart disease. The main indications for examination in this group of patients were: confirmation of an atrial septal defect, unsatisfactory visualization, in particular in complex defects, evaluation of the results of surgical correction, detailed valvular morphology, in particular of the mitral and aortic valve, search for the source of embolization, suspected aneurysm of the aorta. A high diagnostic yield of TEE was obtained in: defects of the atrial septum, or other pathological conditions affecting the atrium, defects of the atrioventricular septum (AV), pathology of the AV valves, in particular the mitral one, pathology of the aortic valve and the efflux tract of the left ventricle, aortic arch and its descendent part, transposition of the large arteries or other complex defects, incl. conditions following surgical correction. A small diagnostic contribution of TEE was obtained when visualizing defects of the ventricular septum, pulmonary valves and the efflux tract of the right ventricle and the distal portions of the ascendant aorta.