RESUMO
A congenital dyserythropoietic anaemia (CDA) was recognised in a French Caucasian male patient. Blood smears showed a pronounced aniso-poikilocytosis. Bone marrow light microscopy showed signs of dyserythropoesis, but no internuclear chromatin bridges. Electron microscopy disclosed erythroblast nuclei with the Swiss cheese aspect and the presence of cytoplasmic organelles, assessing the diagnosis of CDA I. The presence of internuclear chromatin bridges may thus be missing in CDA I. The patient proved to be homozygous for the Arg1042Trp mutation in codanin-1 (the 'Bedouin mutation'). By the age of 25, the patient's vision started to deteriorate as a result of retinal angioid streaks and macular abnormalities. Evolution was controlled and the patient, being nearly 50 yr old now, still has a partial use of his eyes. This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition.
Assuntos
Substituição de Aminoácidos/genética , Anemia Diseritropoética Congênita/diagnóstico , Estrias Angioides/diagnóstico , Glicoproteínas/genética , Homozigoto , Anemia Diseritropoética Congênita/complicações , Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/patologia , Estrias Angioides/etiologia , Estrias Angioides/genética , Estrias Angioides/patologia , Arginina/genética , Células da Medula Óssea/patologia , Células da Medula Óssea/ultraestrutura , Criança , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares , Triptofano/genéticaRESUMO
Erythrocytapheresis was performed 6 times in 4 patients with sickle cell anemia and thalassemia. Good results were obtained, particularly in pregnant patients, no crisis being observed during pregnancy. In the other patients the painful crisis was suppressed over 4 months. The technic is very easy. The Haemonetics H 30 was used, 70% of red cell volume being removed and replaced with leukocyte-poor blood.
Assuntos
Anemia Falciforme/terapia , Remoção de Componentes Sanguíneos , Eritrócitos , Complicações Hematológicas na Gravidez/terapia , Talassemia/terapia , Adolescente , Adulto , Remoção de Componentes Sanguíneos/métodos , Feminino , Humanos , GravidezRESUMO
In a controlled study, the authors have assayed the serum values of thyroid hormones, TSH, reverse T3 (rT3) and the T4/TBG ratio in patients with alcoholic liver cirrhosis before and after 15 days of total abstinence from alcohol. Before abstinence, they show a significant decrease of T3 and a significant increase of r T3. Only T3 values are correlated to the clinical and biological signs of liver cirrhosis. The T3 and rT3/T3 ratio allow a good evaluation of the severity of the cirrhotic condition. The study, after abstinence from alcohol, shows an improvement of both biological abnormalities and T3, rT3, rT3/T3 values. Pathogenic mechanisms of these disturbances are discussed and therapeutic prospects considered.
Assuntos
Cirrose Hepática Alcoólica/sangue , Hormônios Tireóideos/sangue , Adulto , Idoso , Alcoolismo/sangue , Alcoolismo/fisiopatologia , Alcoolismo/terapia , Feminino , Humanos , Cirrose Hepática/fisiopatologia , Masculino , Pessoa de Meia-Idade , Tireotropina/sangue , Fatores de TempoRESUMO
The authors report a case of acute myeloid leukemia in a thirty-four-year-old man who had been under lithium carbonate for the last six months for manic-depressive psychosis. One year after treatment with cytosine-arabinoside, 6-thioguanine and daunorubicin, the patient is still in complete remission. In the medical literature we found seven additional reports of acute or chronic myeloid leukemia after lithium therapy. Lithium was found to enhance granulopoiesis. Our findings suggest that lithium may initiate or promote leukemia.
