RESUMO
To investigate the genetic polymorphisms of the HLA region in late-onset adrenal hyperplasia, 13 Italian patients affected by the disease were analyzed for: (1) HLA-A and -B typing; (2) restriction fragment length polymorphism (RFLP) of DR beta, DQ beta, DQ alpha, 21-hydroxylase A and B genes; (3) fourth complement fraction loci A and B (C4A and C4B), second complement fraction (C2) and properdin B factor (Bf) complement typing; (4) hormonal characteristics associated with some HLA haplotypes. HLA alleles B14 and DR beta 1 were found to be significantly more frequent in patients with respect to controls (relative risk: 8.7 and 7.2, p less than 0.001 and p less than 0.0001, respectively). Also C4B*2, 1 duplication was more frequent in patients than in normal subjects (23% vs. 1.5%, p less than 0.0001). Moreover, patients carrying a duplicated C4B (as well as those having the B14 antigen) showed higher 17-hydroxyprogesterone levels after ACTH stimulation. RFLP analysis of 21-hydroxylase genes with a specific probe revealed a duplication of 21-hydroxylase A gene in 40% of patients. All these individuals carried the C4A*2 B*2,1 phenotype and 75% of them displayed a clearly recognizable duplication at the C4B locus. These data support the hypothesis that in late-onset adrenal hyperplasia the 21-hydroxylase A pseudogene, even if inactive, may play a negative role in the regulation of 21-hydroxylase biosynthesis. Furthermore, we suggest analyzing class III phenotypes to screen the enzymatic defect.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Hormônios Esteroides Gonadais/metabolismo , Antígenos HLA/genética , Polimorfismo de Fragmento de Restrição , 17-alfa-Hidroxiprogesterona , Adolescente , Hiperplasia Suprarrenal Congênita/imunologia , Hormônio Adrenocorticotrópico , Adulto , Complemento C4b/genética , Proteínas do Sistema Complemento/genética , Feminino , Hormônios Esteroides Gonadais/sangue , Antígenos HLA-B/genética , Antígeno HLA-B14 , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Antígenos de Histocompatibilidade Classe II/genética , Humanos , Hidroxiprogesteronas/sangue , Itália , Fenótipo , Esteroide 21-Hidroxilase/genéticaRESUMO
A study was carried out on the role of mycoplasma hominis in obstetric and gynecological infections, and the paper reports a case report of acute pelvoperitonitis in a woman fitted with an IUD. The important role of early preoperative diagnosis in underlined and the current criteria for correct antibiotic therapy are discussed.
Assuntos
Doenças dos Genitais Femininos/microbiologia , Infecções por Mycoplasma/microbiologia , Doença Aguda , Técnicas Bacteriológicas , Feminino , Humanos , Dispositivos Intrauterinos , Pessoa de Meia-Idade , PeritônioAssuntos
Arilsulfatases/análise , Doenças Mamárias/enzimologia , Neoplasias da Mama/enzimologia , Mama/enzimologia , Doença da Mama Fibrocística/enzimologia , Glucuronidase/análise , Lisossomos/enzimologia , Sulfatases/análise , Adenofibroma/enzimologia , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Papiloma/enzimologia , Tumor Filoide/enzimologiaRESUMO
The authors tackle the subject of surgical treatment of benign diseases of breast. They show the importance to get a good result either pathologically or aesthetically. About this consideration they related operating techniques for various kinds of benign disease of breast, that assure the preservation or the aesthetical restoration of this region that is so psychologically important for a woman.
Assuntos
Doenças Mamárias/cirurgia , Doenças Mamárias/classificação , Feminino , Humanos , Mastectomia , Métodos , Complicações Pós-Operatórias , Próteses e ImplantesRESUMO
The dimensions of breast are genetically determinated and hormones only allow breast (when growth is finished) to reach the definite dimensions. In the development of benign disease of breast, the estro-progestinic lack of balance, for a long period, holds a great importance; while GH, TSH, ACTH, prolactine, and androgens are often favourable elements for the development of the benign disease of breast. It isn't verified how it is due to the hormones activity and how to biometabolic activity of the tissue hormones operate on. Since the opinions about a direct connection between benign disease of breast and Ca. are in contrast, we advise a periodical inspection of breast, and, moreover, the dosage of the receptors for estradiol and 2 OH testosterone; if they are both present, they send to a surgical therpay. Treatment of these patients effected with derivatives of 19-Nor-testosterone and 17-OH-progesteron, must not absolutely base on empiricism but must be documented with hormonal dosages and with dosages of receptors. Failure of this therapy leads to a surgical treatment.
