RESUMO
Since 1969, several classical linkage studies suggested an X-chromosome locus for bipolar affective disorder. However, methods using highly polymorphic DNA markers have provided conflicting evidence for linkage, and an X-chromosomal locus for bipolar disorder remains controversial. More recently, Pekkarinen et al. (1995) found a maximum LOD score of 3.54 at the marker DXS994 in a large bipolar Finnish kindred. In the present study, we attempted to replicate this finding using 43 families multiply affected by bipolar affective disorder. These families were selected for the absence of male-to-male transmission of the disease, and were genotyped for two microsatellte markers, DXS1227 and DXS1062 (which is about 2 cM telomeric to DXS994). Linkage to this region was excluded either using a two-point lod score method with two plausible genetic models, or by a model-free lod score analysis which does not require specification of a particular mode of transmission. We conclude that there is no evidence of a common major gene for bipolar affective disorder at Xq25-q27 in our set of families.
Assuntos
Transtorno Bipolar/genética , Cromossomo X/genética , Transtorno Bipolar/epidemiologia , Brasil/epidemiologia , Inglaterra/epidemiologia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Escore Lod , Masculino , País de Gales/epidemiologiaRESUMO
Straub et al. (1994: Nature Genet. 8. 291-296) have suggested that a susceptibility gene for bipolar affective disorder is located at chromosome 21q22.3, on the basis of linkage analysis in one large family. This result has been supported by Gurling et al. (1995: Nature Genet. 10, 8-9) who also found some evidence for linkage to this region under locus heterogeneity. In order to investigate the validity of these results and to estimate how broadly applicable they are, we performed a linkage study between bipolar affective disorder and two DNA markers (D21S171 and PFKL) from 21q22.3 using 60 bipolar pedigrees from three European centres and Brazil. The most positive result obtained was a maximised admixture lod score of 1.2 for the marker PFKI, under the assumption of locus heterogeneity, dominant transmission and a diagnostic classification which included recurrent unipolar depression. However, since lod scores obtained for both markers were substantially negative overall, we conclude that there is no common major gene for bipolar affective disorder at 21q22.3. It remains possible that a gene of major effect in this region operates in a minority of families.
Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 21 , Ligação Genética/genética , Marcadores Genéticos/genética , Brasil , Transtorno Depressivo/genética , Europa (Continente) , Frequência do Gene/genética , Humanos , Modelos Genéticos , Fenótipo , Transtornos Psicóticos/genéticaRESUMO
O tratamento com o toxoide difterico ou com a antitoxina, em mais de 600 leprosos em periodos de tempo que variam entre poucas semanas e 10 meses, produziram resultados superiores a qualquer outro metodo, ou mesmo, combinação de metodos. Em 50 por cento dos casos precoces, tratados durante 6 meses, foi obtido bom resultado, segundo os exames bacteriologicos e clinicos, estado las lesões da pele, da area de anestesia e melhora do estado geral dos pacientes.
Assuntos
Hanseníase , Hanseníase/prevenção & controle , Hanseníase/tratamento farmacológicoRESUMO
Treatment of over 600 leprosy patients with diphtheria toxoid or antitoxin, over periods varying from a few weeks to 10 months, has gien results which far exceed any obtaioned by me with any other method or combination of methods. Fifty percent of all early cases treated for six months or more have become symptom-free as judged from the bacteriological examination, the condition of skin lesions and of areas of anesthesia, and a general appraisal of the patients' physical condition. The more advanced cases show definite improvement in a high percentage of cases according of the same standards. Other methods of treatment which have brought encouraging results to a selected group of patients are mentioned.
Assuntos
Humanos , Hansenostáticos/história , Hanseníase/classificação , Hanseníase/complicações , Hanseníase/microbiologia , Hanseníase/tratamento farmacológico , Toxoide Diftérico/uso terapêuticoRESUMO
A number of monkeys have been fed on a diet of colocasia, and then inoculated with material from lepers. All four female monkeys, so treated six or more months ago, have developed symptoms similar to those seen in leprosy in humans. There have been positive bacteriological findings in nodules and changes in pigmentation of the skin. One animal developed thickening of the ulnar nerves. One male monkey has developed abcesses containing acid-fast bacilli as well as other sympstoms after being injected with a solution of sapotoxin in addition to the diet of colocasia