Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Med Pregl ; 50(7-8): 281-4, 1997.
Artigo em Servo-Croata (Latino) | MEDLINE | ID: mdl-9441211

RESUMO

The paper presents the past knowledge of the etiology of chronic meningeal syndrome. The causes are divided into those of infective and those of noninfective etiology. Basic recommendations for general diagnostic approach, laboratory, clinical and radiological follow up of the patients have been given. A wide spectrum of differential-diagnostic possibilities has been pointed out, especially in relation to chronic systemic diseases. Characteristic syndromes of chronic meningitis have been separated and concisely described.


Assuntos
Meningite , Doença Crônica , Humanos , Meningismo/diagnóstico , Meningismo/etiologia , Meningite/diagnóstico , Meningite/etiologia
2.
Med Pregl ; 48(3-4): 98-102, 1995.
Artigo em Servo-Croata (Latino) | MEDLINE | ID: mdl-8657076

RESUMO

Intrathecal antibody synthesis is a common local immunologic reaction in acute meningoencephalitis and encephalitis caused by Herpes group viruses, myxo and paramyxoviroses. The purpose of this study was to determine the quantity of de novo synthesized IgG during 24 hours in the liquor of patients of different ages suffering from acute viral meningitis and meningoencephalitis and to establish correlations between the dysfunction of blood-brain barrier and de novo IgG synthesis. We examined 73 patients of different ages divided into 5 groups according to their age. The state of blood-brain barrier was the most stable with high Qalb values of 225,596 for the youngest (from 2 to 6) and 193,190 for the somewhat older children (from 7 to 15). The most common damage of the blood-brain barrier was established in the oldest group of patients--over 40 years of age. The lowest intrathecal IgG production was established in the youngest group from 2 to 6 (6.631 mg/24 hours), and the highest (64.61 mg/24 hours) at the beginning of the disease in the group from 16 to 25 years of age. We established a correlation between damages of blood-brain barrier and de novo synthesis of IgG, especially in the youngest patients in the first days of the disease as well as 14 and more days later, when a low immunoglobulin production was established but a well preserved blood-brain barrier too. In the group of patients older than 40 years of age such a correlation was not found which points to a tissue synthesis of antibodies in the central nervous system.


Assuntos
Imunoglobulina G/líquido cefalorraquidiano , Meningite Viral/imunologia , Meningoencefalite/imunologia , Doença Aguda , Adolescente , Adulto , Fatores Etários , Barreira Hematoencefálica , Proteínas do Líquido Cefalorraquidiano/análise , Criança , Pré-Escolar , Humanos , Meningite Viral/líquido cefalorraquidiano , Meningoencefalite/líquido cefalorraquidiano , Pessoa de Meia-Idade
3.
J Med Genet ; 31(3): 255-6, 1994 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8014980

RESUMO

We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is discussed.


Assuntos
Translocação Genética , Síndrome de Turner/genética , Adolescente , Pai , Feminino , Humanos
4.
J Med Virol ; 41(1): 1-5, 1993 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8228930

RESUMO

The presence of the E2 region of HPV 16 was determined by the polymerase chain reaction in biopsy samples with different histopathological diagnoses. The absence of the E2 gene was observed in 17 of 30 cases examined. The E2 deletions were not confined exclusively to invasive carcinomas or to integrated viral forms. In the majority of cases, the course of cervical lesions was consistent with the state of the E2 gene.


Assuntos
Proteínas de Ligação a DNA , Genes Virais , Proteínas Oncogênicas Virais/genética , Papillomaviridae/genética , Infecções por Papillomavirus/microbiologia , Infecções Tumorais por Vírus/microbiologia , Neoplasias do Colo do Útero/microbiologia , Sequência de Bases , Carcinoma in Situ/microbiologia , Condiloma Acuminado/microbiologia , Feminino , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Displasia do Colo do Útero/microbiologia
6.
Clin Genet ; 37(5): 321-6, 1990 May.
Artigo em Inglês | MEDLINE | ID: mdl-2354546

RESUMO

Two infertile males with sex chromosomal abnormalities and mosaic karyotype, 45,X/46,X,dic(Yq) and 45,X/46,X,ring(Y), had considerably changed physical findings, including tooth sizes and craniofacial dimensions. Spermatogenesis was preserved with abnormal meiotic chromosomal behaviour. Mosaic karyotype and structurally changed Y chromosome in both cases had an influence on physical parameters. Tests were normally developed and spermatogenesis was preserved but depressed in later stages.


Assuntos
Infertilidade Masculina/genética , Aberrações dos Cromossomos Sexuais/genética , Cromossomo Y , Adulto , Cefalometria , Humanos , Infertilidade Masculina/patologia , Infertilidade Masculina/fisiopatologia , Cariotipagem , Masculino , Meiose , Mosaicismo , Fenótipo , Cromossomos em Anel , Aberrações dos Cromossomos Sexuais/patologia , Aberrações dos Cromossomos Sexuais/fisiopatologia , Espermatogênese , Cromossomo Y/patologia , Cromossomo Y/fisiologia
7.
Cancer Genet Cytogenet ; 42(1): 135-42, 1989 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-2790741

RESUMO

Cytogenetic analysis was carried out in 100 tissue specimens from 88 patients with bladder cancer. Using a direct technique of chromosome preparation, analyzable metaphases were obtained in 60 cases. Various chromosomal abnormalities, numerical as well as structural, were found. The frequencies of different marker chromosomes, with the exception of the ring chromosome, increased from grade 1 to grade 3 tumors. The average number of markers per cell was one in G1, four in G2, and eight in G3 tumors. It was possible to make a distinction between structural aberrations occurring in all histologic grades and those specific for the invasive grade 2 and grade 3 tumors.


Assuntos
Aberrações Cromossômicas , Marcadores Genéticos , Neoplasias da Bexiga Urinária/genética , Humanos , Cariotipagem , Neoplasias da Bexiga Urinária/patologia
9.
Hum Reprod ; 2(3): 197-9, 1987 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-3597739

RESUMO

Spermatogenesis and meiotic chromosomal behaviour was analysed in a group of males aged 60-80 years. Decreased spermatogenesis was found in most of these aged men although individual differences existed. Chromosomal analysis of cells undergoing diakinesis showed significantly lower chiasma frequency in elderly men, compared with a group of younger control males and also with infertile males.


Assuntos
Meiose , Oligospermia/patologia , Espermatogênese , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Hidrocele Testicular/patologia
10.
Jugosl Ginekol Perinatol ; 26(3-4): 61-4, 1986.
Artigo em Servo-Croata (Latino) | MEDLINE | ID: mdl-3561025

RESUMO

It is for the first time that chorionic villi biopsy was performed for diagnostic purposes; the indication for prenatal testing was haemophilia B-X-linked disease. The chorionic tissue was obtained by transcervical aspiration in the 9th week of gestation under ultrasound guidance. The techniques used for cytogenetic investigation were the Y body technique and direct fetal karyotyping. The presence of Y body was determined by slide examination. The analysis of the fetal karyotype confirmed the diagnosis of a male fetus. As this fetus had a great risk (50%) of being born with haemophilia B, the parents decided to terminate the pregnancy. It was done 9 days following the test. During this period no complications were observed. The chorionic villi biopsy has proved easy, quick, and successful in the diagnosis of X-linked disorders.


Assuntos
Hemofilia B/diagnóstico , Diagnóstico Pré-Natal , Adulto , Biópsia , Vilosidades Coriônicas/patologia , Feminino , Humanos , Masculino , Gravidez , Primeiro Trimestre da Gravidez , Risco
12.
Clin Genet ; 25(1): 33-6, 1984 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-6705240

RESUMO

Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found in 23 (2.8%). Chromosome variants comprised a group of 77 (9.3%) subjects. We suggest that men with severe oligozoospermia and azoospermia should be considered for cytogenetical evaluation.


Assuntos
Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Infertilidade Masculina/genética , Cromossomos Humanos 6-12 e X/ultraestrutura , Humanos , Masculino , Oligospermia/genética , Aberrações dos Cromossomos Sexuais/genética , Contagem de Espermatozoides , Translocação Genética
14.
Clin Genet ; 22(5): 266-9, 1982 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-7151310

RESUMO

Among 120 meiotic analyses of infertile men there were three cases with a particular meiotic anomaly: low chiasma count at diakinesis and spermatogenic arrest. All clinical findings, hormonal analyses and karyotypes from peripheral blood were normal. Meiotic studies showed that pachytene pairing was complete, but in diakinesis the mean number of chiasmata per cell was significantly lowered, chromosomes were fragmented and univalents could frequently be found. In all three cases azoospermia was the consequence of spermatogenic arrest, which occurred after diakinesis-metaphase I.


Assuntos
Cromossomos/ultraestrutura , Meiose , Oligospermia/genética , Adulto , Humanos , Masculino , Oligospermia/patologia , Espermatogênese , Espermatogônias/ultraestrutura
15.
Hum Genet ; 59(4): 342-4, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7333588

RESUMO

The distribution and size of Ag-NORs and the frequency of satellite associations was investigated in a family where the mother and a son were 13/14 translocation carriers. In cells with good quality silver impregnation and G-banding, Ag-NORs were constant per subject in number and distribution, while Ag-NOR size varied from cell to cell. The father had the maximal number Ag-NORs (10). The mother's translocation chromosome, free chromosome 13 and both chromosomes 22 were Ag-NOR negative and these were transmitted to the children. The mean number of associations per cell for a particular subject was positively correlated with the subject's characteristic number of Ag-NORs. In this family, the positive correlation was also present between mean Ag-NOR size of acrocentric homologue chromosome pairs and their coefficient of association. No biological mechanism compensating for the absence of active NORs was demonstrated for this family.


Assuntos
Cromossomos Humanos 13-15/ultraestrutura , Região Organizadora do Nucléolo , Translocação Genética , Adulto , Bandeamento Cromossômico , Cromossomos Humanos 21-22 e Y/ultraestrutura , Feminino , Heterozigoto , Humanos , Linfócitos/ultraestrutura , Masculino , Pessoa de Meia-Idade , Nitrato de Prata
17.
Int J Fertil ; 24(1): 68-70, 1979.
Artigo em Inglês | MEDLINE | ID: mdl-37184

RESUMO

Since the problem of primary amenorrhoea (PA) is very real the authors reviewed a series of 58 women from their own laboratory, citing all known causes of PA and emphasizing that the most interesting cases are those with normal karyotype. Reinvestigation of patients with normal karyotype using the banding methods (G and R) revealed new types of structural aberrations of X chromosome. The importance of structural disturbances and rearrangements of particular segments of X chromosome in the etiology of PA has been discussed.


Assuntos
Amenorreia/genética , Aberrações Cromossômicas , Adulto , Deleção Cromossômica , Cromossomos Humanos 1-3 , Feminino , Humanos , Cromatina Sexual , Translocação Genética , Cromossomo X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...