RESUMO
BACKGROUND: Cardiac tamponade is a rare but life-threatening complication of cardiac interventions. Despite prompt pericardiocentesis, clinical management can be challenging and sometimes haemodynamic stabilisation is difficult to achieve. Intra-pericardial thrombin injection after pericardiocentesis promotes haemostasis and acts as a sealing agent, as previously described for left ventricular free-wall rupture. We aimed to evaluate intra-pericardial thrombin injection as a bailout strategy for pericardial tamponade following percutaneous cardiac interventions. METHODS: In a 5-year single-centre retrospective analysis we identified 31 patients with cardiac tamponade due to percutaneous intracardiac procedures. Intra-pericardial thrombin injection as a bailout strategy was administered in 5 of 31 patients (16.1%). RESULTS: Patients receiving intra-pericardial thrombin were in a more critical state when thrombin was applied, as demonstrated by a higher rate of resuscitation (40% versus 26.9%) and a trend toward a prolonged stay in the intensive care unit (177.6⯱ 84.0 vs 98.0⯱ 31.4â¯h). None of the patients with pericardial tamponades treated with intra-pericardial thrombin needed cardiothoracic surgery. Mortality after 30 days was lower with intra-pericardial thrombin injection than with standard treatment (0% vs 15.4%). We observed no complications using intra-pericardial thrombin. CONCLUSION: Intra-pericardial thrombin injection could be considered as a bailout strategy for patients with iatrogenic pericardial tamponade due to percutaneous procedures. We recommend further evaluation of this technique in the clinical management of refractory pericardial tamponade.
RESUMO
In this article we review the currently available data on percutaneous mitral valve annulorrhaphy devices using the coronary sinus in patients with functional mitral valve regurgitation (MR). Of these devices the greatest clinical experience exists for the Carillon mitral contour system which has gained increasing application also outside trials in the last 2 years. The advantages include the ease of use with an effective reduction in functional MR and a subsequent improvement of echocardiographic and clinical parameters. A limitation is the compromise of flow in the circumflex artery in some patients especially with a crossing of the coronary sinus with this artery. Future investigations need to focus on the evaluation of this coronary sinus-based technology versus mitral valve clipping technology for the treatment of functional MR.
Assuntos
Seio Coronário/cirurgia , Anuloplastia da Valva Mitral/efeitos adversos , Anuloplastia da Valva Mitral/métodos , Insuficiência da Valva Mitral/complicações , Insuficiência da Valva Mitral/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Medicina Baseada em Evidências , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: Bone-marrow-derived progenitor cells are important in myocardial repair mechanisms following prolonged ischemia. Cell-based therapy of diseased myocardium is limited by a low level of tissue engraftment. OBJECTIVES: The aim of this study was the development of the bifunctional protein αCD133-glycoprotein (GP)VI as an effective treatment for supporting vascular and myocardial repair mechanisms. RESULTS: We have generated and characterized a bifunctional molecule (αCD133-GPVI) that binds both to the subendothelium of the injured microvasculature and to CD133(+) progenitor cells with high affinity. αCD133-GPVI enhances progenitor cell adhesion to extracellular matrix proteins and differentiation into mature endothelial cells. In vivo studies showed that αCD133-GPVI favors adhesion of circulating progenitor cells to the injured vessel wall (intravital microscopy). Also, treatment of mice undergoing experimental myocardial infarction with αCD133-GPVI-labeled progenitor cells reduces infarction size and preserves myocardial function. CONCLUSIONS: The bifunctional trapping protein αCD133-GPVI represents a novel and promising therapeutic option for limiting heart failure of the ischemic myocardium.
Assuntos
Antígenos CD/imunologia , Células Endoteliais/transplante , Terapia Genética , Glicoproteínas/imunologia , Infarto do Miocárdio/terapia , Miocárdio/patologia , Peptídeos/imunologia , Glicoproteínas da Membrana de Plaquetas/biossíntese , Regeneração , Anticorpos de Cadeia Única/biossíntese , Transplante de Células-Tronco , Antígeno AC133 , Animais , Sítios de Ligação , Adesão Celular , Diferenciação Celular , Modelos Animais de Doenças , Células Endoteliais/imunologia , Células Endoteliais/metabolismo , Proteínas da Matriz Extracelular/metabolismo , Células HEK293 , Humanos , Masculino , Camundongos , Camundongos Endogâmicos NOD , Camundongos SCID , Infarto do Miocárdio/genética , Infarto do Miocárdio/imunologia , Infarto do Miocárdio/metabolismo , Infarto do Miocárdio/patologia , Infarto do Miocárdio/fisiopatologia , Miocárdio/imunologia , Miocárdio/metabolismo , Glicoproteínas da Membrana de Plaquetas/genética , Proteínas Recombinantes/biossíntese , Anticorpos de Cadeia Única/genética , Fatores de Tempo , Transfecção , Função Ventricular EsquerdaRESUMO
HISTORY AND ADMISSION FINDINGS: A 72-year-old woman presented with progressive dyspnea on exertion. There was no chest pain. A 4/6 systolic murmur was detected on auscultation. INVESTIGATIONS: Echocardiography demonstrated a combined aortic valve defect with severe stenosis and moderate insufficiency, additionally a persistent foramen ovale. The coronary angiography revealed coronary heart disease with severe stenosis of the left anterior descending (LAD) and the right coronary artery (RCA). The stenosis of the aortic valve was severe (Pmax 91 mm Hg, Pmean 52 mm Hg). During catheterization of the right heart iatrogenic perforation of a pulmonary artery occurred, resulting in diffuse pulmonary bleeding. The patient suffered from progredient dyspnea and hemoptysis. DIAGNOSIS, TREATMENT AND COURSE: Catheter-induced rupture of an artery of the right inferior pulmonary lobe was diagnosed. Because of bleeding into this lobe an immediate intubation with a double-lumen bronchial tube was necessary to ensure ventilation of the contralateral lung. Several attempts to occlude the arterial leak by ballon failed. Bleeding stopped after embolisation of the vessel by injection of thrombin. CONCLUSION: Iatrogenic rupture of a pulmonary artery is a rare and life-threatening complication of the catheterization of the right heart and demands rapid therapy. The protection of the contralateral lung by intubation with a double-lumen tubes is of highest priority. Selective embolization of the affected vessel via thrombin can be a lifesaving alternative to lobectomy or conservative therapy.
Assuntos
Insuficiência da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/instrumentação , Cateterismo de Swan-Ganz/efeitos adversos , Cateterismo de Swan-Ganz/instrumentação , Embolização Terapêutica/métodos , Hemorragia/etiologia , Complicações Intraoperatórias/terapia , Artéria Pulmonar/lesões , Trombina/administração & dosagem , Idoso , Insuficiência da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/diagnóstico por imagem , Embolização Terapêutica/instrumentação , Feminino , Hemorragia/diagnóstico por imagem , Hemorragia/terapia , Humanos , Injeções Intra-Arteriais , Complicações Intraoperatórias/diagnóstico por imagem , Pessoa de Meia-Idade , Artéria Pulmonar/diagnóstico por imagem , RadiografiaAssuntos
Angioplastia Coronária com Balão , Serviços Médicos de Emergência , Fidelidade a Diretrizes , Infarto do Miocárdio/terapia , Saúde da População Rural , Terapia Trombolítica , Eletrocardiografia/efeitos dos fármacos , Alemanha , Humanos , Infarto do Miocárdio/mortalidade , Avaliação de Processos e Resultados em Cuidados de Saúde , Equipe de Assistência ao Paciente , Complexo Glicoproteico GPIIb-IIIa de Plaquetas/antagonistas & inibidores , Taxa de Sobrevida , Gerenciamento do TempoRESUMO
BACKGROUND: The Susac syndrome is often misdiagnosed as Multiple Sclerosis. In the absence of an early diagnosis of the disease, both the doctors and patients concerned are left in an uncertainly regarding the interpretation, diagnosis and prognosis of the discovered illness. PATIENT: The following case report focuses on this syndrome. CONCLUSION: The disease mainly affects young women and appears in the triple form of retinal arterial occlusion, hearing impairment and Encephalopathy.
Assuntos
Doenças Desmielinizantes/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Oclusão da Artéria Retiniana/diagnóstico , Zumbido/diagnóstico , Adulto , Encéfalo/patologia , Diagnóstico Diferencial , Feminino , Angiofluoresceinografia , Humanos , Imageamento por Ressonância Magnética , Esclerose Múltipla/diagnósticoRESUMO
The U-373 MG glioblastoma and the IMR-32 neuroblastoma cell lines were found to express the dopamine (DA) and vesicular monoamine transporters, using reverse transcriptase-polymerase chain reaction (RT-PCR). To further characterize the DA transporter, [3H]GBR-12935 binding and [3H]DA uptake studies were performed. Specific binding of [3H]GBR-12935 to U-373 MG and IMR-32 cells is saturable as saturation experiments indicated. Scatchard analysis revealed two binding sites on U-373 MG as well as on IMR-32 cells. The high-affinity sites exhibited a KD of 2.95 and 0.42 nM and a Bmax of 6.4 and 0.83 fmol/mg protein for U-373 MG and IMR-32 cells, respectively. The low-affinity sites exhibited a KD of 144 and 251 nM and a Bmax of 37.5 and 119 fmol/mg protein for the same cells, respectively. The high-affinity binding of both types of cells probably represents the "classic" DA uptake site identified in other studies from human and rat striatal membranes or synaptosomes, while the low-affinity binding may represent a mazindol-insensitive binding site (the "piperazine acceptor site"). [3H]DA uptake was 0.55 +/- 0.16 and 1.08 +/- 0.33 pmol/mg protein for U-373 MG and IMR-32 cells, respectively. Since the DA transporter has been implicated as an important site for drugs and toxins, the above-mentioned cell lines may be a useful tool in the study of the mechanism of action of DA transporter modulating substances.
Assuntos
Neoplasias Encefálicas/metabolismo , Proteínas de Transporte/biossíntese , Glioblastoma/metabolismo , Glicoproteínas de Membrana/biossíntese , Proteínas de Membrana Transportadoras , Proteínas do Tecido Nervoso , Neuroblastoma/metabolismo , Neuropeptídeos , Animais , Linhagem Celular , Dopamina/metabolismo , Proteínas da Membrana Plasmática de Transporte de Dopamina , Humanos , Cinética , Piperazinas/metabolismo , Piperazinas/farmacologia , Reação em Cadeia da Polimerase , RNA Mensageiro/biossíntese , Ratos , Proteínas Vesiculares de Transporte de Aminas BiogênicasRESUMO
Differential and sometimes contradictory effects have been described for tumour necrosis factor alpha (TNF-alpha) and interferon gamma (IFN-gamma) on replication of human immunodeficiency virus type 1 (HIV-1). The authors examined individual and coordinate action of these cytokines on HIV-1 expression, and on apoptosis of HIV-1-infected host cells by determination of reverse transcriptase activity in cell culture supernatant, expression of HIV-1-RNA and production of p24 antigen in the promonocytic cell line U937 and its persistently HIV-1-infected clone U1. Apoptosis was demonstrated by typical cleavage of cellular DNA at internucleosomal regions in promonocytic and T-lymphocytic cell lines. TNF-alpha alone markedly stimulated HIV-1 replication in U1 cells at the transcriptional and on the translational level. Exclusive application of IFN-gamma only slightly enhanced HIV-1 expression, whereas it synergistically potentiated stimulatory effects of TNF-alpha. Both cytokines also synergistically induced apoptosis in HIV-1-infected host cells. Co-ordinate action of TNF-alpha and IFN-gamma is suggested to represent an important mechanism for disease progression in HIV infection. These findings demonstrate that cytokine effects on viral expression may vary depending on their single or combined application.
Assuntos
Apoptose/efeitos dos fármacos , HIV-1/fisiologia , Interferon gama/farmacologia , Fator de Necrose Tumoral alfa/farmacologia , Replicação Viral/efeitos dos fármacos , Linhagem Celular , Proteína do Núcleo p24 do HIV/biossíntese , Transcriptase Reversa do HIV , HIV-1/efeitos dos fármacos , Humanos , RNA Viral/biossíntese , DNA Polimerase Dirigida por RNA/metabolismo , Proteínas Recombinantes/farmacologia , Células Tumorais CultivadasRESUMO
The presence of epileptiform activity (EA) in the EEG of patients' relatives points to the significance of genetics in the etiology of epilepsies. Waking and sleep EEGs were recorded in 83 siblings of 54 patients suffering from symptomatic generalized tonic-clonic seizures. EA was recorded in at least one sibling of 27 (50%) of the 54 patients. When the 83 siblings are taken as a basis, EA was found in 34 (41%) of them. Generalized spike-wave discharges were seen in 32 cases; 2 siblings showed benign sharp wave foci in the right parietal area. EA was seen only in sleep in 44.1%. The highest rates of EA were seen in the age range up to 15 years. EA was found in 15 of 50 male siblings (30%), but in 18 of 33 female siblings (54.5%). Therefore genetics also play an import role in the etiology of symptomatic generalized tonic-clonic seizures.
Assuntos
Eletroencefalografia , Epilepsia Tônico-Clônica/genética , Fases do Sono/genética , Vigília/genética , Adolescente , Córtex Cerebral/fisiopatologia , Criança , Pré-Escolar , Epilepsia Tônico-Clônica/fisiopatologia , Potenciais Evocados/genética , Potenciais Evocados/fisiologia , Feminino , Humanos , Lactente , Masculino , Polissonografia , Fases do Sono/fisiologia , Vigília/fisiologiaRESUMO
Members of the IRF family mediate transcriptional responses to interferons (IFNs) and to virus infection. So far, proteins of this family have been studied only among mammalian species. Here we report the isolation of cDNA clones encoding two members of this family from chicken, interferon consensus sequence-binding protein (ICSBP) and IRF-1. The predicted chicken ICSBP and IRF-1 proteins show high levels of sequence similarity to their corresponding human and mouse counterparts. Sequence identities in the putative DNA-binding domains of chicken and human ICSBP and IRF-1 were 97% and 89%, respectively, whereas the C-terminal regions showed identities of 64% and 51%; sequence relationships with mouse ICSBP and IRF-1 are very similar. Chicken ICSBP was found to be expressed in several embryonic tissues, and both chicken IRF-1 and ICSBP were strongly induced in chicken fibroblasts by IFN treatment, supporting the involvement of these factors in IFN-regulated gene expression. The presence of proteins homologous to mammalian IRF family members, together with earlier observations on the occurrence of functionally homologous IFN-responsive elements in chicken and mammalian genes, highlights the conservation of transcriptional mechanisms in the IFN system, a finding that contrasts with the extensive sequence and functional divergence of the IFNs.
Assuntos
Proteínas de Transporte/genética , Galinhas/genética , Proteínas de Ligação a DNA/genética , Interferons/farmacologia , Família Multigênica/genética , Fosfoproteínas/genética , Proteínas Repressoras , Sequência de Aminoácidos , Animais , Evolução Biológica , Northern Blotting , Proteínas de Transporte/biossíntese , Embrião de Galinha , Clonagem Molecular , Sequência Conservada , Proteínas de Ligação a DNA/biossíntese , Regulação da Expressão Gênica , Biblioteca Gênica , Fator Regulador 1 de Interferon , Fatores Reguladores de Interferon , Dados de Sequência Molecular , Fosfoproteínas/biossíntese , RNA Mensageiro/análise , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , Especificidade da Espécie , Distribuição TecidualRESUMO
Eighty pregnant women (25 substance using, 55 nonusing) from an American prenatal clinic serving lower-income to working-class women responded to questionnaire measures of child-rearing attitudes. The drug users' primary substance of misuse was cocaine (68%), alcohol (16%), amphetamines (12%), or sedatives (4%); polydrug use was documented for 80% of the women. The two (user and nonuser) groups were not different on demographic (age, race, marital status, education, SES, source of income) or obstetrical factors (number of pregnancies, number of children). Drug-using women scored significantly higher on a measure of child abuse potential; more than half scored in the range of clinical criterion for extreme risk. As their babies were not yet born, no actual physical abuse was documented, only a higher potential for abuse. The subgroup who were both drug users and had lower social support scored higher on child abuse potential than all other subgroups. The drug users also had lower self-esteem scores than the nonusers. The two groups did not differ on measures of overall social support, authoritarian/democratic child-rearing beliefs, or affection for the expected baby.
Assuntos
Atitude , Maus-Tratos Infantis/psicologia , Drogas Ilícitas , Relações Mãe-Filho , Poder Familiar/psicologia , Complicações na Gravidez/psicologia , Psicotrópicos , Apoio Social , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adulto , Maus-Tratos Infantis/prevenção & controle , Feminino , Humanos , Recém-Nascido , Inventário de Personalidade , Gravidez , Cuidado Pré-Natal , Fatores de Risco , Autoimagem , Detecção do Abuso de SubstânciasRESUMO
To elucidate the structural basis responsible for the reduced IFN sensitivity of expression of the histone H1(0) and H5 gene, integrated into the vaccinia virus genome, vaccinia virus thymidine kinase (VV-TK)-histone H1(0)/H5 fusion genes were constructed and translocated into the TK locus of the VV genome. The chimeric genes, consisting of parts of either of the two histone genes and the 5' or 3' half of the TK gene, respectively, were expressed as histone-TK fusion proteins under the control of either the VV-TK promoter or the early sequences of the VV 7.5K promoter. IFN sensitivity of the expression of histone-TK fusion genes was shown to be influenced by the relative length of the histone sequence. Expression of fusion genes containing more than 45% cellular sequence either from the 5' or the 3' part of one of the two histone genes showed clearly reduced IFN sensitivity compared to the expression of VV-TK. On the other hand, by further reducing the relative amount of histone H5 or H1(0) sequence to 32%, the IFN sensitivity of expression of the corresponding fusion gene was drastically enhanced to levels indistinguishable from those of VV-TK.
Assuntos
Regulação para Baixo/genética , Regulação da Expressão Gênica/efeitos dos fármacos , Histonas/genética , Interferons/farmacologia , Sequências Reguladoras de Ácido Nucleico/genética , Animais , Embrião de Galinha , Análise Mutacional de DNA , Relação Dose-Resposta a Droga , Fibroblastos , Histonas/biossíntese , Proteínas Recombinantes de Fusão/biossíntese , Timidina Quinase/biossíntese , Timidina Quinase/genética , Vaccinia virus/enzimologia , Vaccinia virus/genéticaRESUMO
Waking and sleep EEG-recordings were carried out in siblings of patients with various idiopathic and symptomatic seizure types. Rates of epileptic activity (e.a.) were found in the symptomatic ones varying between 24.1% (Complex partial seizures) and 46.7% (Symptomatic absences). 1/4 to 1/2 of the e.a. was recorded exclusively in sleep, so that sleep recordings are also necessary for such investigations. 2.5-4/sec. spike wave-complexes were predominantly seen; benign foci and photosensitivity were recorded in a smaller number of siblings. More e.a. was observed in idiopathic (72%) than in symptomatic absences (46.7%). On the other hand the same rates (42:41%) as well as almost the same EEG-patterns were found in idiopathic and symptomatic generalized tonic-clonic seizures. When counting the single epileptic discharges more e.a. was seen in siblings of patients with the idiopathic type than the symptomatic one (one discharge every 53 sec.:229.3 sec.). Most e.a. was found in the age group 6-14 years in siblings of all seizure types; therefore, this age dependent penetrance does not depend on the seizure type, but on the recorded spike wave-complexes, benign foci and photosensitivity which occur most frequently in this age range. A multi-factorial mode of inheritance is assumed.
Assuntos
Doenças em Gêmeos/genética , Epilepsia/genética , Polissonografia , Fases do Sono/genética , Vigília/genética , Adolescente , Córtex Cerebral/fisiopatologia , Criança , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia/fisiopatologia , Epilepsia Tipo Ausência/genética , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Epilepsia Tônico-Clônica/genética , Epilepsia Tônico-Clônica/fisiopatologia , Potenciais Evocados/fisiologia , Feminino , Humanos , Masculino , Fases do Sono/fisiologia , Vigília/fisiologiaRESUMO
Drug-abusing (n = 25) and nonusing (n = 55) pregnant women from a publicly supported prenatal clinic were tested for level of social support and of pregnancy anxiety during the last half of pregnancy. Differences found between the groups were fewer than expected. Drug abusers did not differ from nonusers in overall level of social support or in Appraisal, Belonging, or Tangible subscales. Abusers were found to report lower levels of self esteem; lower self esteem was predicted by drug abuse, having more children and lower socioeconomic status. Drug abusers did not differ from nonusers in their overall feelings of pregnancy anxiety, but they did indicate higher fears for themselves and for the baby, and there was a tendency for higher depression and withdrawal.
Assuntos
Ansiedade/psicologia , Drogas Ilícitas , Cuidado Pré-Natal , Psicotrópicos , Apoio Social , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adolescente , Adulto , Feminino , Humanos , Drogas Ilícitas/efeitos adversos , Recém-Nascido , Síndrome de Abstinência Neonatal/prevenção & controle , Inventário de Personalidade , Gravidez , Psicotrópicos/efeitos adversos , Fatores de Risco , Autoimagem , Transtornos Relacionados ao Uso de Substâncias/reabilitaçãoRESUMO
Waking and sleep EEGs were recorded in 29 siblings of 19 patients with complex partial seizures. At least 1 sibling with epileptic activity (EA) was found for 36.8% of the patients. Taking the 29 siblings as a basis, in 7 EA was recorded. Most EA was seen during sleep in stage C (29%). More EA was recorded in female siblings (28%: 18%) and in siblings of female patients (56%: 20%). All EA was seen in the age range 5-14 years. Siblings with occipital theta-delta activity with a generalization tendency showed more EA (59%) than those without this pattern (8%). Of the siblings of patients with generalized EA 50% showed EA, but only 25% of those of patients with localized EEG patterns.
Assuntos
Eletroencefalografia , Convulsões/genética , Sono/fisiologia , Vigília/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
The interferon sensitivity of the expression of an influenza-virus hemagglutinin (HA) gene cloned into the thymidine kinase (TK) gene of vaccinia virus was studied in chick embryo fibroblasts (CEF) and Madin-Darby bovine kidney (MDBK) cells. In CEF, the expression of the HA gene is inhibited by pretreatment of cells with homologous interferon. In MDBK cells, on the other hand, expression of the HA is not impaired by pretreatment with human interferon-alpha, and the synthesis of early vaccinia virus enzymes was also unaffected. These results indicate that the interferon sensitivity of HA gene expression is at least in part controlled by flanking regions of vaccinia virus DNA. In this report, we also address the question whether the expression of an influenza virus HA gene and the human histone H1 zero gene under control of a vaccinia virus immediate early promoter is affected in interferon-treated CEF by a post-transcriptional mechanism in the same way as the expression of the viral TK gene. In interferon-treated cells mRNA synthesis specific for all these genes was enhanced. Steady state mRNA levels 6 hr p.i. were, however, lower than the amounts expected from the rate of mRNA synthesis during the first 6 hr p.i., suggesting that part of the viral RNA was degraded. Degradation resistant mRNA accumulated in the interferon-treated cells in an amount comparable to that found in infected CEF. This RNA could be translated into viral protein in a cell-free system. Therefore the degradation of viral mRNA cannot solely be responsible for the inhibition of viral protein synthesis in interferon-treated cells.
Assuntos
Regulação Viral da Expressão Gênica , Hemaglutininas Virais/genética , Interferons/farmacologia , Regiões Promotoras Genéticas , Vaccinia virus/genética , Animais , Bovinos , Divisão Celular , Linhagem Celular , Células Cultivadas , Embrião de Galinha , Clonagem Molecular , Regulação Viral da Expressão Gênica/efeitos dos fármacos , Glicoproteínas de Hemaglutininação de Vírus da Influenza , Histonas/genética , Humanos , Cinética , Biossíntese de Proteínas , Processamento Pós-Transcricional do RNA , RNA Mensageiro/metabolismo , Timidina Quinase/genética , Timidina Quinase/metabolismoRESUMO
Waking and sleep EEGs were recorded in 69 siblings of 43 patients with rolandic spikes. 36 suffered from rolandic epilepsy, 7 from other diseases or symptoms (headaches, migraine, learning problems). At least one sibling with epileptic activity was found in 51.16% of the patients. Taking the 69 siblings as a basis, in 26 (37.68%) epileptic activity was recorded. Benign spike foci were recorded in only 4 siblings, generalized spike-wave complexes were seen in 22. Most epileptic activity was recorded in the age group of 5-12 years (54.3%). Nearly one-half (17.4%) was recorded exclusively in sleep, predominantly in sleep stage C (88%). Siblings of patients with (40%) and without seizures (37.5%) showed approximately the same rate, likewise siblings with (40%) and without seizures (34.8%). An autosomal-dominant mode of inheritance is assumed, but a multifactorial mode is also discussed.
Assuntos
Epilepsias Parciais/genética , Epilepsia do Lobo Temporal/genética , Fases do Sono/genética , Vigília/genética , Adolescente , Adulto , Córtex Cerebral/fisiopatologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Polissonografia , Fatores de Risco , Fases do Sono/fisiologia , Vigília/fisiologiaRESUMO
Waking and sleep EEGs were recorded in 67 siblings of 52 patients with febrile seizures (FS). Epileptic activity was noted in at least 1 sibling for 28 of the 52 patients (53.8%). Epileptic discharges were noted in 33 (49.2%) of the 67 siblings. Thirty-two siblings had 3-4 Hz spike wave complexes, and 1 sibling had independent centrotemporal spike foci (rolandic foci). Epileptic activity was noted exclusively in the waking state in only 3%, in waking and sleep in 31.3%, and only in sleep in 14.9%. The greatest number of epileptic discharges occurred in waking during hyperventatilation (32.8%) and during stage C sleep (38.8%). In 5 photosensitive siblings, additional epileptic discharges were noted in sleep in 1 and in waking and sleep in 4. At least 1 sibling in 5 (55.6%) of 9 patients with complicated febrile seizures, in 23 (53.5%) of 43 patients with simple FS, and in 4 of 9 patients (44.4%) with later onset epileptic seizures had seizure discharges. At least 1 sibling in 24 of 43 patients (55.8%) with exclusively FS in 13 of 30 (43.3%) male patients and in 15 of 22 (68.2%) female patients had seizure discharges. Siblings aged 6-10 years had (66.7%) the highest rates of activation. Epileptic discharges were noted in 83.3% of siblings with seizures, but in only 45.9% of siblings without seizures. Seizure activity was recorded in 68.2% of siblings who had occipital 3-4-Hz theta-delta-activity but in only 13.0% of siblings without this pattern.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Eletroencefalografia , Epilepsia/fisiopatologia , Convulsões Febris/genética , Sono/fisiologia , Vigília/fisiologia , Adolescente , Criança , Pré-Escolar , Epilepsia/genética , Feminino , Humanos , Hiperventilação/fisiopatologia , Masculino , Convulsões Febris/fisiopatologia , Fases do Sono/fisiologiaRESUMO
The duck histone H5 and human H1 zero were inserted into the thymidine kinase (TK) gene of vaccinia virus and the interferon sensitivity of their expression under the control of the viral TK and P7.5 promoters in chick embryo fibroblasts (CEF) was compared to the interferon sensitivity of vaccinia virus WR specific TK induction. Expression and transport of these histones to the nucleus in CEF infected with the appropriate vaccinia virus recombinants could be detected with antisera raised against chick histone H5. In CEF cultivated for 3 days, interferon treatment that completely inhibited TK synthesis had no or only a marginal inhibitory effect on the expression of the histone genes. Inhibition of the expression of the histones could be detected under conditions of increased interferon sensitivity in aged CEF. The magnitude of inhibition was, however, less pronounced than the inhibition of viral TK synthesis. These data indicate that flanking vaccinia virus DNA regions confer interferon sensitivity to the expression of these histone genes, but that they contain structural information that partially exempts their expression from the inhibitory activity of the interferon-induced regulatory system.