Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 15 de 15
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Proc Math Phys Eng Sci ; 475(2226): 20190224, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31294726

RESUMO

[This corrects the article DOI: 10.1098/rspa.2018.0288.].

2.
Psychother Psychosom Med Psychol ; 50(3-4): 161-8, 2000.
Artigo em Alemão | MEDLINE | ID: mdl-10780157

RESUMO

As part of a multicentre study on the comorbidity of diabetes mellitus and eating disorders, the following paper compares the psychological features of diabetic patients with and without an eating disorder. In a sample of 663 diabetic patients (type 1: n = 341 type 2: n = 322), eating disorder related variables, self-esteem, body acceptance and emotional distress, especially depression in diabetic patients with and without an eating disorder, were compared. A possible relationship to diabetic control was investigated. Type 2 diabetics revealed more pronounced psychopathology in comparison to type 1 diabetics. According to our assumption, diabetic patients with an eating disorder and diabetic patients who deliberately reduced insulin in order to loose weight (insulin purging) revealed a much more severe psychopathology compared to diabetics without an eating disorder. The type of diabetes was of no importance. With the exception of the variable body and figure satisfaction in the sample of type 1 diabetes and the variable self-acceptance in the sample of type 2 diabetes, no relationship to diabetic control could be found.


Assuntos
Complicações do Diabetes , Diabetes Mellitus/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Adulto , Fatores Etários , Imagem Corporal , Depressão/psicologia , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/psicologia , Feminino , Humanos , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Insulina/administração & dosagem , Insulina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Autoimagem
3.
Am J Med Genet ; 46(1): 88-94, 1993 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-8494036

RESUMO

De novo supernumerary small ring chromosomes have mainly been reported in pediatric patients with clinical abnormalities, thus, there may be bias of ascertainment. Reports on prenatally diagnosed cases with postnatal follow-up are rare. With the availability of chromosome specific alpha-satellite centromeric probes, the interest in these previously unidentifiable supernumerary small ring chromosomes has been rekindled [Callen et al.: J Med Genet 27: 155-159, 1990; Callen et al.: Am J Hum Genet 48:769-782, 1991; Callen et al.: Am J Med Genet 43:709-715, 1992]. We report on 2 prenatal diagnosis cases, where a ring was noted in 25 and 60% of the amniocytes, respectively. The initial G- and C-banding in Case 1 allowed an assumption of a chromosome 1 origin of the extra chromosome. This was confirmed by fluorescence in situ hybridization (FISH) studies using the appropriate probes. No similar initial assumption could be made in Case 2; thus, random trials with multiple probes were performed. A chromosome 19 origin in Case 2 was eventually concluded. The large amount of C-band positive material on the extra chromosome and the normal level 2 fetal ultrasound examination suggested a favorable outcome in both cases, but the possibility of mental retardation could not be ruled out. An empiric risk figure with regard to prenatally diagnosed de novo supernumerary small ring chromosomes is not available. Although the decision making processes of the parents were different, they both decided to continue the pregnancy. At age 9 months and 1 1/2 years both children, a girl and a boy, showed normal growth and development.


Assuntos
Amniocentese , Aberrações Cromossômicas , Aconselhamento Genético , Resultado da Gravidez , Cromossomos em Anel , Adulto , Bandeamento Cromossômico , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 19 , Sondas de DNA , Feminino , Seguimentos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez , Ultrassonografia Pré-Natal
4.
J Urol ; 142(3): 697-700, 1989 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-2769845

RESUMO

We analyzed cytogenetically 6 tumors from 4 patients with bilateral renal cell carcinoma. Comparison among findings in these patients with bilateral disease and previously reported cases of unilateral tumor demonstrates that bilaterality is associated with a more frequent loss of a sex chromosome, and gain of chromosomes 7 and 3, whereas unilateral tumors often are associated with loss of chromosome 3 material. It is proposed that bilateral tumors are distinct genetically from unilateral tumors and that most bilateral tumors have a genetic propensity to either enhanced metastatic spread to other renal tissue or spontaneous degeneration.


Assuntos
Carcinoma de Células Renais/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 7 , Neoplasias Renais/genética , Cromossomos Sexuais , Adulto , Idoso , Carcinoma de Células Renais/patologia , Citogenética , Feminino , Humanos , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade
5.
Cancer Genet Cytogenet ; 34(1): 135-42, 1988 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-3395987

RESUMO

Using a newly developed combined method of enzymatic technique and short-term tissue culture, 30 tumor specimens from 26 patients with nonfamilial renal cell carcinoma were subjected to cytogenetic analysis. Of the 26 patients, 19 had chromosomally abnormal tumors, four (including two oncocytomas) were normal, and three did not grow. The modal chromosome numbers ranged from 44 to 98 (including two pseudotetraploids). Banding analysis revealed 38 clonal aberrations and ten nonclonal aberrations. Abnormalities were of structure and number. The most consistent clonal abnormality was a trisomy or tetrasomy chromosome 7 occurring in tumors from 15 of the 19 patients with cytogenetically abnormal tumors. In four cases, trisomy 7 was the only visible abnormality observed, and in an additional five it was the only abnormality in two or more cells. An abnormal chromosome 3 was found in ten (38%) of the cases. Two were trisomic for #3, two were monosomic, three were hyperdiploid, and three had interstitial deletions with breakpoints clustered from p11 to p25. In only one case was a deleted #3 the only abnormality observed in a clone of cells. Loss of the sex chromosome was seen in eight (35%) of the 23 chromosomally abnormal cases including all four (100%) patients with bilateral disease. One of the patients with bilateral disease had an abnormal clone with monosomy X as the only abnormality. These data suggest that trisomy or tetrasomy 7 more often represents the specific primary abnormality than abnormalities of either chromosome 3 or the sex chromosomes. From this, a model of chromosomal progression may be constructed for nonfamilial renal cell carcinoma, which could assist in pathologic classification and prognostic and therapeutic considerations.


Assuntos
Carcinoma de Células Renais/genética , Aberrações Cromossômicas , Neoplasias Renais/genética , Carcinoma de Células Renais/patologia , Feminino , Humanos , Cariotipagem , Neoplasias Renais/patologia , Masculino
6.
Cancer Res ; 48(10): 2887-9, 1988 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-3359445

RESUMO

Twenty-eight tissue specimens from 26 patients with renal cell carcinoma were subjected to cytogenetic analysis using a newly developed combined method of enzymatic technique and short term tissue culture. Of the 28 tumor samples studied, 21 were chromosomally abnormal. Four (including two oncocytomas) were normal, and three did not grow in tissue culture. Of the 21 tumors with abnormal chromosomes, the most frequent abnormality was either trisomy or tetrasomy of chromosome 7 (18 of 21 tumors). In four of these tumors, trisomy 7 was the only visible abnormality. Ten tumors contained abnormalities of chromosome 3. Three showed a previously reported chromosome 3 interstitial deletion, five were hyperdiploid, and two revealed a monosomy 3. Of these 10 patients, six have had disease progression, compared to one of the 16 remaining patients without an abnormal chromosome 3. These data suggest that abnormalities of chromosome 7 represent a primary abnormality, and that when these abnormalities are present in association with abnormalities involving chromosome 3, they may correlate with a more aggressive clinical course and a corresponding higher stage of disease at diagnosis.


Assuntos
Carcinoma de Células Renais/genética , Aberrações Cromossômicas , Neoplasias Renais/genética , Carcinoma de Células Renais/patologia , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 7 , Humanos , Neoplasias Renais/patologia
7.
J Comp Pathol ; 97(5): 609-14, 1987 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-3680650

RESUMO

A poorly differentiated cutaneous lymphosarcoma with delayed multicentric anatomical distribution was diagnosed in a dog. The neoplasm had cells with chromosome numbers of 58 or 67 and the former cells lacked the subtelocentric marker chromosome seen in cells of canine transmissible venereal tumour with 58 chromosomes.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Doenças do Cão/genética , Linfoma não Hodgkin/veterinária , Neoplasias Cutâneas/veterinária , Animais , Doenças do Cão/patologia , Cães , Feminino , Cariotipagem , Linfoma não Hodgkin/genética , Linfoma não Hodgkin/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
8.
Cancer Genet Cytogenet ; 22(2): 143-8, 1986 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-3458519

RESUMO

A child with acute myelogenous leukemia is presented. Cytogenetic analysis of her leukemic cells revealed a (4;11)(q12;q23) translocation. The slight difference in the breakpoint on chromosome #4 from previously reported cases of t(4;11) may account for the degree of myeloid differentiation expressed. Acute leukemia associated with t(4;11) is a unique subgroup that originates in an early myeloid stem cell and carries a poor prognosis.


Assuntos
Leucemia Mieloide Aguda/genética , Translocação Genética , Medula Óssea/patologia , Criança , Feminino , Humanos , Leucemia Mieloide Aguda/patologia
9.
Am J Med Genet ; 22(3): 571-5, 1985 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-3933345

RESUMO

We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease.


Assuntos
Síndrome do Cromossomo X Frágil/complicações , Neurofibromatose 1/complicações , Puberdade Precoce/complicações , Aberrações dos Cromossomos Sexuais/complicações , Pré-Escolar , Humanos , Deficiência Intelectual/complicações , Cariotipagem , Masculino , Neurofibromatose 1/patologia , Espinha Bífida Oculta/patologia , Testículo/patologia
10.
Clin Genet ; 28(5): 375-84, 1985 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-4085142

RESUMO

This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes.


Assuntos
Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Translocação Genética , Trissomia , Anormalidades Múltiplas/genética , Adulto , Feminino , Fibroblastos/citologia , Humanos , Deficiência Intelectual/genética , Cariotipagem , Linfócitos/citologia , Masculino
11.
Am J Vet Res ; 46(10): 2145-6, 1985 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-4062021

RESUMO

Chromosomes of a ewe lamb born with atresia ani vaginalis were examined after a 72-hour culture of peripheral whole blood. The 2n number of chromosomes was 54,XX, with no apparent deviation from normality. Pedigree analysis of the ewe lamb indicated that her sire and dam were only slightly related (Rsd = 0.59%); therefore, the amount of inbreeding of the lamb was small (Fx = 0.30%).


Assuntos
Aberrações Cromossômicas/veterinária , Fístula Retal/veterinária , Doenças dos Ovinos/genética , Fístula Vaginal/veterinária , Animais , Transtornos Cromossômicos , Feminino , Fístula Retal/congênito , Fístula Retal/genética , Ovinos , Doenças dos Ovinos/congênito , Fístula Vaginal/congênito , Fístula Vaginal/genética
13.
Artigo em Alemão | MEDLINE | ID: mdl-6651752

RESUMO

In the early 1980s the agrarian-economic situation and the food supply of most developing countries is characterized by serious complications and vast contradictions. Contrary to the predictions made at the world food conferences in 1970 and 1974, a general retardation has taken place in the rates of increase of food production, and the nutrient crisis has extended. The FAO prognosis 'Agriculture: Toward 2000'- based on annual growth rates of 4%--outlines the enormous problems to be solved in the struggle against hunger and malnutrition in the developing countries. Because of its inadequacies and contradictions this document of the FA cannot, however, be considered as a complex strategy for the fight against hunger, poverty, and underdevelopment, or as a general orientation for shaping the agrarian and nutritional policy in the developing countries.


Assuntos
Agricultura , Países em Desenvolvimento , Abastecimento de Alimentos , Fome , Previsões , Humanos , Sistemas Políticos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...