RESUMO
We have recently studied a large family of 80 persons in which 47 were examined. The evaluation included history, blood pressure determination, palpation of the thyroid gland and determination of serum carcino-embryonic antigen (C.E.A.) and calcitonin (C.T.). Two members of the kindred had a proven M.C.T. without pheochromocytoma, hyperparathyroidism or Cushing's disease and two others a probable M.C.T. Four members suffered from intestinal occlusion and death occurred in three of them. Our conclusions are: 1) In this family traced through 4 generations: it appears that M.C.T. is transmitted as an autosomal dominant trait with a high degree of penetrance; 2) Our cases associated with those reported in the literature in the past few years point to the existence of a rare but distinct syndrome characterised by the association of M.C.T. and congenital megacolon with hyperplasia of the myenteric plexus; 3) As far as we know, this is the first indication of C.E.A. coupled with elevated calcitonin among several individuals of the same family. We confirm here the conclusions of previous studies: "C.E.A. is a valuable tumour marker which can be used for the detection of M.C.T., particularly if no calcitonin radio-immuno assay is available.
Assuntos
Carcinoma/genética , Neoplasias da Glândula Tireoide/genética , Adulto , Idoso , Calcitonina/sangue , Antígeno Carcinoembrionário/análise , Carcinoma/diagnóstico , Criança , Feminino , Genes Dominantes , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Linhagem , Risco , Neoplasias da Glândula Tireoide/diagnósticoRESUMO
We have recently studied a kindred in which there have been 2 proven and 2 probable cases of medullary thyroid carcinoma without pheochromocytoma, hyperparathyroidism or Cushing's disease. Four other members suffered from intestinal occlusion and death occurred in three of them. The family has been traced through 4 generations (80 members) and 47 members could be examined; circulating calcitonin and carcinoembryonic antigen levels were measured. This study leads to two conclusions: 1) Medullary thyroid carcinoma is transmitted as an autosomal dominant trait with a high degree of penetrance. 2) Carcinoembryonic antigen is a valuable tumour marker particularly if no calcitonin radioimmunoassay is avialable for the diagnosis of M.C.T.
Assuntos
Carcinoma/genética , Neoplasias da Glândula Tireoide/genética , Adulto , Calcitonina/sangue , Antígeno Carcinoembrionário/análise , Carcinoma/sangue , Feminino , Humanos , Linhagem , Neoplasias da Glândula Tireoide/sangueRESUMO
The authors have carried out a prospective study from the 1 January 1977 to the 31 December 1981 on 168 women, 89.3% of whom (150/168) had pure distal tubal microsurgery and 10.7% (18/168) had mixed surgery. The results were studied in relationship to the aetiological reason for tubal sterility, which was: salpingitis in 60 cases = 35.7%; appendicitis in 23 cases = 13.7%, endometriosis in 29 cases = 17.3%, termination of pregnancy in 22 cases = 13.1% and unknown causes in 34 cases = 20.2%. The figures for intra-uterine pregnancies were 32.74% after 24 months using a classical method of determining it and 31% using an actuarial method. There was a significant difference between endometriosis and the four other aetiologies. These latter could not be differentiated between one another. The level of ectopic pregnancies was 5.3% at 24 months, or 6.3% using an actuarial method. It was higher after endometriosis. It would therefore appear from the results of this study that endometriosis seems to be poor from a prognostic point of view when compared with the other aetiological causes and the results shown in the literature. Finally the authors discuss in cases of endometriosis whether it is correct to carry out a second operation after the first or to resort to the other possibility, namely in vitro fertilisation.
Assuntos
Tubas Uterinas/cirurgia , Infertilidade Feminina/etiologia , Adulto , Apendicectomia , Endometriose/complicações , Neoplasias das Tubas Uterinas/complicações , Feminino , Humanos , Microcirurgia , Complicações Pós-Operatórias , Salpingite/complicaçõesRESUMO
The symptoms and the evolution of necrotizing vasculitis vary greatly. The authors illustrate the case of an 18 year old patient with a history of frequent allergic manifestations (urticaria and others) who was found to have, in septembre 1975, a typical case of Grave's disease. During the following 2 months she was treated with an iodide derivative. One year later the clinical signs increased to the point where a treatment associating lugol, carbamizole and propanolol was deemed necessary. Less than 2 months later there developed a polyvisceral disease with oscillating fever, polyarthralgia and necrotizing vasculitis. The plurivisceral nature of the illness was further illustrated by the presence of a hyperreflexia, a glomerulopathy and retinal exsudats. A muscle biopsy revealed the necrotizing vasculitis with granulomas typical of periarteritis nodosa. Cardiac, neurologic and renal complications were responsable for a rapid down-hill course and despite corticoïdes and immunosuppresive drugs, the patient died after a few weeks of treatment. That periarteritis nodosa should complicate the evolution of Grave's disease suggests a connection between the two, very probably immunologic in nature. The role of drugs capable of inducing vasculitis must be explored, especially the iodide derivatives, the antithyroïd medications or their association. Such cases, even though they may be rare, should incite special care in the prescription of antithyroïd drugs in the allergic patient.