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1.
Nord J Psychiatry ; 55(6): 387-93, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11839131

RESUMO

The characteristics of five 11- to 15-year-old patients with somatic symptoms and alexithymia in conjunction with psychological distress are reported. The findings are compared with the existing literature. Preceding somatic disorders and difficulties at school and in peer relationships were found. Family violence was evident in two cases. We postulate that the developmental tasks of adolescence were complicated by the threat of disability, disease, and death. The parents were incapable of expressing their feelings either in general or because of their recent traumatic experiences. Our findings suggest that unbearable emotions often precede the combination of preadolescent and adolescent alexithymia and somatization in clinically relevant cases.


Assuntos
Sintomas Afetivos/psicologia , Emoções/fisiologia , Transtornos Somatoformes/psicologia , Estresse Psicológico/psicologia , Adolescente , Sintomas Afetivos/etiologia , Criança , Citalopram/uso terapêutico , Transtornos Dissociativos/etiologia , Transtornos Dissociativos/psicologia , Violência Doméstica/psicologia , Feminino , Humanos , Deficiências da Aprendizagem/psicologia , Masculino , Transtornos Fóbicos/tratamento farmacológico , Transtornos Fóbicos/etiologia , Transtornos Fóbicos/psicologia , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Transtornos Somatoformes/tratamento farmacológico , Transtornos Somatoformes/etiologia
2.
Eur Child Adolesc Psychiatry ; 9(3): 162-7, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11095038

RESUMO

Recent research reports show that autistic spectrum disorders may actually be more common than previously believed. General awareness and clinical knowledge of these disorders have increased, and the criteria in the ICD-10 and the DSM-IV are also now more detailed. The diagnostic criteria and the methods of ascertainment influence the prevalence. The age specific incidence obtained in this study showed the cumulative incidence to be lowest, 6.1 per 10,000, in the oldest age group of 15- to 18-year-old children, and highest, 20.7 per 10,000, in the age group of 5-7 year-olds, when the criteria of the ICD-10 and the DSM-IV were used. In this study, almost 50% of the autistic cases had a tested IQ above 70. The degree of autism, as assessed by the Childhood Autism Rating Scale (CARS), varied from mild autistic features in 8.5% through moderate in 58.5% to severe in 33.0%.


Assuntos
Transtorno Autístico/epidemiologia , Adolescente , Transtorno Autístico/diagnóstico , Área Programática de Saúde , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Feminino , Finlândia/epidemiologia , Humanos , Lactente , Masculino , Serviços de Saúde Mental/provisão & distribuição , Testes Neuropsicológicos , Prevalência , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Distribuição por Sexo
3.
Eur Child Adolesc Psychiatry ; 8 Suppl 4: 3-6, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10654128

RESUMO

In an epidemiological multi-centre study, parents filled in the Rutter Parent Questionnaire (RA2) and teachers filled in the Rutter Teacher Questionnaire (RB2) for almost 6000 children. The children filled in the Children's Depression Inventory (CDI). The subjects well represented the entire population of 8-9-year-old children in Finland. The material and design of the study as well as the basic demographic characteristics are presented.


Assuntos
Depressão/epidemiologia , Inquéritos e Questionários , Área Programática de Saúde , Criança , Características da Família , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Seleção de Pacientes
4.
Eur Child Adolesc Psychiatry ; 8 Suppl 4: 7-16, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10654129

RESUMO

We present epidemiological data from a multi-centre study on psychiatric symptoms among 6017 8-9-year-old children representing a total annual birth cohort (N = 60007) in Finland. The results are based on three questionnaires: the Rutter Parent Scale (RA2), the Rutter Teacher Scale (RB2), the Children's Depression Inventory (CDI). The proportion of children that scored above the cutoff points, indicating probable psychiatric disturbance, were 11.2% for the RA2, 13.9% for the RB2 and 6.9% for the CDI. Twenty-four percent of the subjects scored above the cutoff point on at least one of the questionnaires. Low family social status and disrupted family relations correlated strongly with high rates of symptoms in the children.


Assuntos
Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/psicologia , Transtornos do Humor/diagnóstico , Transtornos do Humor/psicologia , Criança , Transtornos do Comportamento Infantil/epidemiologia , Família/psicologia , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Transtornos do Humor/epidemiologia , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Inquéritos e Questionários
5.
Eur Child Adolesc Psychiatry ; 8 Suppl 4: 68-76, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10654136

RESUMO

Smoking and drinking habits were studied among 1098 14-15-year-old adolescents using a mailed questionnaire. The subjects were drawn from a representative population of 5813 randomly selected 8-year-old children previously studied in the National Epidemiological Child Psychiatry Study in Finland in 1989. The questionnaire included items on the adolescents' smoking habits and alcohol consumption. Regular smoking was more common among boys (and girls) who, in childhood, had been rated by their parents (Rutter Parent Questionnaire) (RA2) as disturbed, 14.6% (30.3%), than among the nondisturbed, 6.6% (8.4%). Similarly, more of the previously disturbed (according to the RA2) adolescent boys drank alcohol regularly, 19.7%, as compared to the nondisturbed boys, 9.3%. Among girls, regular alcohol consumption was more common among those who previously had behavioural or mixed type problems (according to the RA2), 70.7%, as compared to those who previously had emotional or no problems, 12.2%. More of the previously depressed girls smoked regularly, 45.1%, than those who had not been depressed, 7.9%. Behavioural and emotional problems in childhood seemed to predispose to smoking and drinking in adolescence. The parents were more sensitive than the teachers in recognising the long-lasting problems of their children.


Assuntos
Consumo de Bebidas Alcoólicas/epidemiologia , Transtornos do Comportamento Infantil/epidemiologia , Hábitos , Transtornos do Humor/epidemiologia , Fumar/epidemiologia , Adolescente , Criança , Transtornos do Comportamento Infantil/complicações , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Transtornos do Humor/complicações , Pais , Inquéritos e Questionários
6.
Eur Child Adolesc Psychiatry ; 8 Suppl 4: 62-7, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10654135

RESUMO

We compared twins with singletons in the National Epidemiological Child Psychiatric Study, which included 122 twins and 5455 singletons, born in 1981 and selected at random. Behavioural and emotional symptoms were assessed in 1989 on the basis of questionnaires filled in by the parents (Rutter Parent Questionnaire) (RA2), teachers (Rutter Teacher Questionnaire) (RB2) and the children themselves (Children's Depression Inventory) (CDI). Parents' reported proportions of probable behavioural/emotional disorders did not differ between the twin and singleton girls, but among the twin boys there was a nonsignificant trend of being more often probably disturbed. Twins were reported to be less disturbed than singletons according to the teachers' assessments. No difference was found between twins and singletons in their self-reports. When analysing parents' reported values of various sum scores, the twin boys obtained slightly higher scores than singletons, while twin girls scored significantly lower on total and emotional disturbances. Twin boys obtained lower mean scores than singletons for probable disorder in the teachers' evaluations, the differences arising mostly in the emotional area. The same type of trend, however nonsignificant, was found among the teachers' evaluations of girls. No significant difference was found in the mean scores for hyperactivity. This large population-based sample suggests that twins may have a lower rate of behavioural problems in childhood than singletons, a finding that has to be taken into account in behavioural genetic studies.


Assuntos
Transtornos do Comportamento Infantil/complicações , Transtornos do Humor/complicações , Gêmeos/psicologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/epidemiologia , Comorbidade , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Programas de Rastreamento , Transtornos do Humor/diagnóstico , Transtornos do Humor/epidemiologia , Pais , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Inquéritos e Questionários
7.
Eur Child Adolesc Psychiatry ; 8 Suppl 4: 77-82, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10654137

RESUMO

In a sample of almost 6000 8-year-old children, we found that 1.5% attended special schools for the educationally subnormal, or training schools. Psychiatric symptoms were studied by means of three screening instruments: the Rutter Parent Questionnaire (RA2) for the parents, the Rutter Teacher Questionnaire (RB2) for the teachers, and the Children's Depression Inventory (CDI) for the children. The prevalence rate of children identified as possibly suffering from a psychiatric disturbance was 32.2% according to the RA2. The corresponding prevalence rate for the RB2 was 34.2%. According to the CDI 11.0% had depressive disturbance. All types of disturbances were more frequent among the intellectually disabled children as compared to the nondisabled children. The differences were statistically significant for emotional and mixed types of disturbance on the RA2, and for emotional and conduct types of disturbance on the RB2.


Assuntos
Transtornos do Comportamento Infantil/complicações , Transtornos do Comportamento Infantil/epidemiologia , Deficiência Intelectual/complicações , Deficiência Intelectual/epidemiologia , Transtornos do Humor/complicações , Transtornos do Humor/epidemiologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Diagnóstico Diferencial , Educação Inclusiva , Feminino , Finlândia/epidemiologia , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Transtornos do Humor/diagnóstico , Prevalência , Índice de Gravidade de Doença , Inquéritos e Questionários
8.
Child Abuse Negl ; 22(7): 705-17, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9693848

RESUMO

OBJECTIVE: The aim of this study was to assess bullying and psychological disturbance among 5,813 elementary school-aged children. METHOD: The data consisted of information given by the parents, teachers, and children themselves (Rutter A2 Scale, Rutter B2 Scale and Children's Depression Inventory). Children involved in bullying (as bullies, bully-victims, and victims) were compared to other children. RESULTS: More boys than girls were found to be involved in bullying. Bully-victims scored highest in externalizing behaviour and hyperactivity, and they themselves reported feelings of ineffectiveness and interpersonal problems. Victims scored highest in internalizing behavior and also psychosomatic symptoms, and they themselves reported anhedonia. Some gender differences in psychiatric symptomatology were also found. Children involved in bullying, especially children who both bullied and were bullied themselves, were psychologically disturbed. More children involved in bullying than others were referred for psychiatric consultation. The probability of being referred was highest among bully-victims (6.5 fold for males and 9.9 for females when compared to children not involved in bullying). CONCLUSIONS: The findings indicate that bullying is a common phenomenon among children who are psychologically disturbed. Bullying also elevates the probability of being referred for psychiatric consultation.


Assuntos
Agressão/psicologia , Transtornos do Comportamento Infantil/diagnóstico , Dominação-Subordinação , Determinação da Personalidade/estatística & dados numéricos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Criança , Transtornos do Comportamento Infantil/psicologia , Depressão/diagnóstico , Depressão/psicologia , Feminino , Finlândia , Identidade de Gênero , Humanos , Controle Interno-Externo , Masculino , Psicometria , Encaminhamento e Consulta , Ajustamento Social
9.
Br J Urol ; 81 Suppl 3: 94-7, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9634029

RESUMO

OBJECTIVE: To determine the prevalence and treatment of enuresis in a national population-based follow-up study of children aged 8-14 years, to evaluate possible factors that enhance or hamper the attainment of continence and to examine the relationships between enuresis and psychiatric disturbance. SUBJECTS AND METHODS: An initial study was carried out in 1989 as part of the Finnish Child Psychiatric National Epidemiological Study. Three types of questionnaires were used; the Rutter Scale A for completion by parents, including a question about enuresis, the Rutter scale B for completion by teachers and the Children's Depression Inventory (CDI), completed by the children. Parents were also asked about demographic and family issues, teachers about school achievements and children about additional psychosomatic symptoms. In a follow-up in 1995, the target population comprised all previous enuretics and their controls, matched by age, gender, class and school, in the first phase of the study. Replies were received from 315 enuretic boys and 186 girls, with the corresponding values for controls being 310 and 183. The parents were asked about the adolescents' present enuresis and for permission for a treatment trial, if needed. The adolescents completed the CDI, and a questionnaire about enuresis, previous treatments and possible willingness for a treatment trial. They also reported basic somatic data, their life events and living habits. RESULTS: In the initial study, the enuretic children had higher total and subscores as reported by parents, teachers and themselves, except for emotional items reported by the teachers. Additionally, a significantly greater proportion of these children soiled, had sleeping difficulties and difficulties in falling asleep. Enuretic boys had more frequent nightly arousal and early morning waking, while the enuretic girls had more nightmares than non-enuretic girls. At 14 years old, the parents reported that 13 adolescents were enuretic; from the children's replies, nine boys and seven girls were enuretic. CONCLUSIONS: The prevalence of enuresis in those previously enuretic was surprisingly low, probably because of the efficient treatment methods, conditioning and medication. There were evident connections between childhood enuresis and mental well-being.


Assuntos
Enurese/epidemiologia , Transtornos Mentais/epidemiologia , Adolescente , Distribuição por Idade , Comportamento , Criança , Doença Crônica , Enurese/psicologia , Enurese/terapia , Feminino , Finlândia/epidemiologia , Seguimentos , Humanos , Masculino , Transtornos Mentais/complicações , Prevalência
10.
Arctic Med Res ; 53 Suppl 1: 7-11, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-8018234

RESUMO

A joint epidemiological survey of psychiatric disorders in children was started in November 1989 by the child psychiatry units of the five medical faculties in Finland. In this particular part of the survey, conducted in the region served by Oulu University Hospital, the aim was to examine the prevalence of psychiatric disorders. The study series amounted to 1100 8-year-old children, of whom 567 (51.6%) were boys and 533 (48.4%) girls. A two stage study approach for the study itself was designed: firstly a screening stage with questionnaires for parents, teachers and the child, and secondly a thorough interview with a parent and the child. It was found that 25.2% of the children were identified by one, two or three screening instruments as possibly disturbed. Boys were identified more often than girls.


Assuntos
Transtornos Mentais/epidemiologia , Criança , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Prevalência
11.
Psychother Psychosom ; 56(1-2): 85-7, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1891586

RESUMO

Somatic symptoms reflecting psychic components were recorded in connection with the Finnish National Epidemiological Study of Psychiatric Disorders. In the present work, according to the parents' concerns, frequent headache was found in 2.8%, recurrent abdominal pain in 2.4%, asthma in 0.7%, enuresis in 1.5% and soiling in 0.3% of the children. Children complaining frequently of different pains were reported in 1.0% by the teachers. Distribution by sex, population density areas and family structure are also given.


Assuntos
Transtornos Psicofisiológicos/diagnóstico , Dor Abdominal , Adaptação Psicológica , Criança , Encoprese , Enurese , Feminino , Finlândia , Cefaleia , Humanos , Masculino , Pais , Prevalência , Inquéritos e Questionários , Ensino
12.
J Ment Defic Res ; 29 ( Pt 2): 179-86, 1985 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-4032465

RESUMO

In this study peripheral blood smears from 29 patients (17 males and 12 females; mean age 28 years, range 3-65 years) with a confirmed diagnosis of the Finnish type of sialic acid storage disease (FSASD) and 200 controls with mental retardation without any evidence of metabolic disease were examined for the presence of vacuolated lymphocytes. Urine samples were analysed by thin-layer chromatography for free sialic acid. Only 62% of the patients with FSASD had a clearly increased percentage of vacuolated lymphocytes (greater than normal mean + 2 s.d.). In thin-layer chromatography all the FSASD patients gave a positive test result. No false positive or negative results were obtained. Electronmicroscopical examination of peripheral blood lymphocytes demonstrated only non-specific changes in a few cells. Examination of peripheral lymphocytes for vacuoles is not a reliable screening test for FSASD. The screening method of choice is the analysis of free sialic acid by thin-layer chromatography.


Assuntos
Encefalopatias Metabólicas/diagnóstico , Deficiência Intelectual/diagnóstico , Linfócitos/ultraestrutura , Organoides/ultraestrutura , Ácidos Siálicos/urina , Vacúolos/ultraestrutura , Adolescente , Adulto , Idoso , Encefalopatias Metabólicas/urina , Criança , Pré-Escolar , Citoplasma/ultraestrutura , Feminino , Humanos , Deficiência Intelectual/urina , Lisossomos/ultraestrutura , Masculino , Pessoa de Meia-Idade , Ácido N-Acetilneuramínico
13.
Clin Genet ; 27(3): 252-7, 1985 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-3157514

RESUMO

The incidence of live-born children with Down syndrome was found to be 1.73/1000 (1:578) in northern Finland over the years 1965 to 1979. Despite a marked reduction in the proportion of older mothers, no significant change in the incidence was observed. Instead, an age-specific rise in the incidence for mothers aged 25 to 29 years could be shown during the last five-year period in years 1975 to 1979.


Assuntos
Síndrome de Down/epidemiologia , Idade Materna , Adulto , Coeficiente de Natalidade , Métodos Epidemiológicos , Feminino , Finlândia , Humanos , Masculino , Pessoa de Meia-Idade , Estações do Ano
14.
Br J Dermatol ; 107(6): 659-64, 1982 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-6293527

RESUMO

Collagen synthesis and the ratios of collagen types I and III were assayed from the skin lesions of five subjects with tuberous sclerosis. Collagen synthesis, measured by the activities of prolyl hydroxylase and galactosylhydroxylysyl glucosyltransferase, was clearly increased in three angiofibromas of these patients and in one soft tumour of the face, but it was unchanged in shagreen patches. The total collagen content was decreased in angiofibromas, indicating either increased turnover of collagen or an increased amount of cellular or other macromolecular elements in these lesions. The proportions of types I and III collagens, estimated by cyanogenbromide digestion and SDS-gel electrophoresis, were 80-90% and 10-20%, respectively, in all samples except two angiofibromas, in which the relative amount of type III collagen was increased. This may indicate that angiofibromas of tuberous sclerosis are heterogenous with respect to the collagen types they contain, and that there may be disturbed cell growth or collagen synthesis, with individual variation from case to case.


Assuntos
Colágeno/biossíntese , Glucosiltransferases/metabolismo , Pró-Colágeno-Prolina Dioxigenase/metabolismo , Dermatopatias/metabolismo , Esclerose Tuberosa/metabolismo , Adulto , Histiocitoma Fibroso Benigno/metabolismo , Humanos , Hidroxiprolina/análise , Pele/metabolismo , Neoplasias Cutâneas/metabolismo
15.
Clin Chim Acta ; 126(3): 275-81, 1982 Dec 23.
Artigo em Inglês | MEDLINE | ID: mdl-6217925

RESUMO

The erythrocyte adenosine deaminase, nucleoside phosphorylase, hypoxanthineguanine phosphoribosyltransferase and adenine phosphoribosyltransferase activities and plasma urate concentrations were measured in 20 cases of Down's syndrome and in 20 age- and sex-matched control subjects. The mean erythrocyte adenosine deaminase and adenine phosphoribosyltransferase activities and plasma urate concentrations were significantly higher in Down's syndrome subjects than in controls (p less than 0.001, p less than 0.01 and p less than 0.001, respectively). In all subjects studied there was a positive correlation between the erythrocyte adenosine deaminase activity and plasma urate concentration (r = 0.488, p less than 0.005). The concentrations of the erythrocyte adenine nucleotides, AMP, ADP and ATP, did not differ in Down's syndrome (n = 10) from those of control subjects (n = 10). The results suggest that the increase of plasma urate concentrations is a consequence of the increase in adenosine deaminase activity in Down's syndrome patients.


Assuntos
Adenina Fosforribosiltransferase/sangue , Adenosina Desaminase/sangue , Síndrome de Down/enzimologia , Hipoxantina Fosforribosiltransferase/sangue , Nucleosídeo Desaminases/sangue , Pentosiltransferases/sangue , Purina-Núcleosídeo Fosforilase/sangue , Nucleotídeos de Adenina/sangue , Adolescente , Adulto , Criança , Eritrócitos/enzimologia , Humanos , Ácido Úrico/sangue
16.
Clin Exp Immunol ; 48(1): 179-85, 1982 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-6979446

RESUMO

Non-specific, cell-mediated and humoral immunity were evaluated in six patients with different autosomal deletions, and in two patients with X-chromosome deletions. Six had an increased number of bacterial, viral, and mycotic infections. Mild disturbances were found in the immunological functions of almost every patient. Granulocyte phagocytosis and killing of bacteria were normal in all patients. The chemotactic response was increased in two, and normal in the others. The responses to phytohaemagglutinin and pokeweed mitogen were normal in all patients and the response to concanavalin A was decreased in one patient. The lymphocyte response to purified protein derivative was decreased in the patients as a group when compared to the controls (P less than 0 . 005), but normal to oidiomycin. The number of acid-alpha-naphthyl acetate esterase positive cells was low in four patients. One had a high titre of antinuclear and antithyroid antibodies. One had a low concentration of serum IgA, C3 and C4. One had a high concentration of IgM. Two had elevated levels of C3 and C4. Our results show that several different chromosomal deletions are associated with immunological abnormality.


Assuntos
Deleção Cromossômica , Deficiência Intelectual/imunologia , Adulto , Formação de Anticorpos , Atividade Bactericida do Sangue , Quimiotaxia de Leucócito , Criança , Cromossomos Humanos 16-18 , Cromossomos Humanos 6-12 e X , Feminino , Granulócitos/imunologia , Humanos , Imunidade Celular , Imunoglobulinas/biossíntese , Deficiência Intelectual/genética , Cariotipagem , Ativação Linfocitária , Masculino , Linfócitos T/enzimologia
17.
Clin Exp Immunol ; 47(3): 735-41, 1982 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-6177458

RESUMO

Natural killer (NK) activity and antibody-dependent cell mediated cytotoxicity (ADCC) against a human myeloid target cell line (K 562) was measured in adult patients with trisomy-21 (Down's syndrome) and in chromosomally normal age and sex matched control subjects. The effect of human leucocyte interferon (IFN-alpha) on the NK activity was also estimated. Spontaneous NK activity was stronger in the adult patients with trisomy-21 than in the healthy controls, but the difference did not reach statistical significance. The augmentation of NK activity by IFN-alpha, measured using lymphocytes not depleted of monocytes as effector cells, was statistically significant in both the trisomic patients (P less than 0.004) and the healthy controls (P less than 0.0005). Using monocyte and macrophage depleted lymphocytes in the patients with trisomy-21 the NK activity proved stronger than in the healthy controls, but not significantly and IFN-alpha did not augment it as it did in the healthy controls (P = n.s., P less than 0.05), for augmentations respectively). These results support the view that monocytes and macrophages are connected with the NK cell system. ADCC correlated with NK activity in both groups. Since NK cells are important components of many immune processes, including tumour and virus and/or bacteria-infected cell elimination, and have regulatory functions in immune reactions, the deficient augmentation of trisomic NK cells shown in vitro with extrinsic human leucocyte interferon may, paradoxically be an explanation for the greater susceptibility of trisomic individuals to lymphatic leukaemia and virus and bacterial infections. In vivo, this could be explained by the more potent secondary suppression by the 'immune' interferon produced by the virus, bacteria and malignant cells. In other words, the potential of the 'fighting couple' of the immune system, NK cell/interferon, is perhaps disturbed genetically due to the chromosome 21.


Assuntos
Síndrome de Down/imunologia , Imunidade Inata , Células Matadoras Naturais/imunologia , Adulto , Citotoxicidade Celular Dependente de Anticorpos , Humanos , Imunidade Inata/efeitos dos fármacos , Técnicas In Vitro , Interferons/farmacologia , Células Matadoras Naturais/efeitos dos fármacos , Macrófagos/imunologia , Monócitos/imunologia
18.
Pediatr Radiol ; 12(1): 28-30, 1982.
Artigo em Inglês | MEDLINE | ID: mdl-7063265

RESUMO

Two brothers with typical clinical findings of the COFS-syndrome are described. In the cranial CT performed on the younger patient at the age of 2 years and 6 months, foci of intracranial calcification located symmetrically in the region of the lenticular nucleus and hemispheric white matter were noted. This finding is clearly distinguishable from the other known patterns of intracranial calcification and could be pathognomonic of the COFS-syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Cabeça/diagnóstico por imagem , Face/anormalidades , Humanos , Recém-Nascido , Masculino , Cintilografia , Crânio/anormalidades , Síndrome , Tomografia Computadorizada por Raios X
19.
Acta Paediatr Scand ; 70(5): 739-41, 1981 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-6459708

RESUMO

Erythrocyte ADA activity was measured in 29 cases of Down's syndrome and in 29 age- and sex-matched controls subjects. The mean activity (+/- S.D.) of ADA in Down's syndrome was 1883 +/- 463 mU/g Hb (37 degrees C) and 1361 +/- 294 mU/g Hb in the controls. The difference was statistically significant (p less than 0.001). The purine metabolism of Down's syndrome patients is discussed.


Assuntos
Adenosina Desaminase/metabolismo , Síndrome de Down/enzimologia , Eritrócitos/enzimologia , Nucleosídeo Desaminases/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Purinas/metabolismo
20.
Clin Exp Immunol ; 45(1): 107-12, 1981 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-7307343

RESUMO

The immunocapacity of a 28-year-old mentally retarded proband and her clinically normal mother and sister, all having a deletion of the short arm of one of the X-chromosomes [46, X, del (X) (pter to 22: :p11 to qter)], was evaluated. The concentrations of immunoglobulin IgA (0 . 4 g/l), IgG (4 . 4 g/l) and IgM (0 . 2 g/l) were low in the proband. The serum IgA (0 . 9 g/l) concentration of her mother was also at the lower normal limit. The serum concentration of complement component C4 was low both in the proband (0 . 17g/l) and in her mother (0 . 18 g/l). Phagocytosis and killing of bacteria by granulocytes were normal in all of them. However, the chemotactic response of granulocytes was at the lower normal level in the patient. The in vitro responses of peripheral blood lymphocytes to the polyclonal T-clonal mitogens, PHA and Con A, were about half normal in the patient and were also decreased in her mother. The response was also decreased against PWM, to about one-sixth of the normal value in the patient and to one-half in her mother. The Con A response was decreased in the sister, while her PHA and PWM responses were normal. In contrast to these findings, the responses against the antigen-specific stimulators, PPD and oidiomycin, were normal in all subjects. Natural killer cell activity against the K-562 cell line was decreased in the patient but normal in her mother and sister. The number of B cells was at the normal limit in all subjects. The amount of E rosette-forming T lymphocytes was normal but the amount of ANAE-positive cells was decreased, especially in the proband (31%). Our results describe a new human immunodeficiency state, probably associated with X-chromosome deletion. We suggest that the short arm of the X-chromosome exerts its effect on regulatory T cells. Whether the humoral defect is connected with suppressor T cells remains to be established.


Assuntos
Deleção Cromossômica , Síndromes de Imunodeficiência/genética , Cromossomos Sexuais , Cromossomo X , Adulto , Quimiotaxia de Leucócito , Complemento C4/deficiência , Feminino , Granulócitos/imunologia , Humanos , Imunidade Celular , Imunoglobulinas/análise , Células Matadoras Naturais/imunologia , Contagem de Leucócitos , Ativação Linfocitária
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