RESUMEN
A 64-year-old man was admitted to our hospital with leukopenia. On admission, leukocyte count in the peripheral blood was 1,600/microliters, containing 24.5% blasts of lymphoid appearance, which were negative for myeloperoxidase. A bone marrow aspiration showed hypoplasia with increased blasts (31.6%). The blasts were ultrastructurally positive for platelet peroxidase (PPO) and positive for platelet membrane glycoprotein IIb/IIIa complex. A diagnosis of acute megakaryoblastic leukemia was made. Chemotherapy with behenoyl-ara C (BH-AC) (150 mg/day) was transiently effective. However, after three months, numerous nodules without itching appeared over the entire body, particularly on the anterior chest. A biopsy of the skin lesion revealed a diffuse fibrosis with infiltrations of the blasts. Bone marrow aspirations were dry tap, and a bone marrow biopsy showed marked myelofibrosis. Then, severe headache, vomiting, and loss of consciousness developed, and a lumbar puncture revealed infiltrations of blasts. Although methotrexate was intrathecally injected, he died due to the respiratory failure. As far as we know, a case of acute megakaryoblastic leukemia with leukemia cutis and meningeal leukemia is quite rare. In addition, it is interesting that megakaryoblastic leukemia was accompanied with both the fibrosis of skin and the myelofibrosis.
Asunto(s)
Leucemia Megacarioblástica Aguda/patología , Neoplasias Meníngeas/patología , Mielofibrosis Primaria/patología , Neoplasias Cutáneas/patología , Humanos , Masculino , Persona de Mediana Edad , Invasividad NeoplásicaAsunto(s)
Distrofia Miotónica/genética , Adulto , Alopecia/complicaciones , Catarata/complicaciones , Femenino , Humanos , Masculino , Linaje , Quinina/uso terapéuticoRESUMEN
In 1972, over 2,000 blood specimens were obtained from two Iranian populations, Mazandaranians and Guilanians, who live on the southern coast of the Caspian Sea. All specimens were screened for hypocatalasemics and randomly selected samples were analyzed for several blood groups (A1A2BO, MNSs, Rh, P, Fy, K, Di, Jk, Lu, Nya), red cell enzyme systems (glucose-6-phosphate dehydrogenase, phosphoglucomutase, acid phosphatase) and serum protein groups (Hp, Tf). The genetic constitution of these Iranian populations was described, and the genetic relationship to Mongolians and Caucasians was discussed.
Asunto(s)
Acatalasia , Antígenos de Grupos Sanguíneos/genética , Fosfatasa Ácida/genética , Proteínas Portadoras/genética , Catalasa/sangre , Catalasa/genética , Eritrocitos/enzimología , Femenino , Frecuencia de los Genes , Glucosafosfato Deshidrogenasa/genética , Haptoglobinas/genética , Humanos , Irán , Masculino , Fosfoglucomutasa/genética , Polimorfismo Genético , Transferrina/genética , Proteína de Unión a Vitamina DRESUMEN
Fatal postoperative erythroderma (POE) developed in a 52-year-old woman with gallstones who underwent elective cholecystectomy. During surgery, she was transfused with 3 units of unirradiated packed red cells stored in the liquid state for at least 4 days after collection. The POE is believed to have been the result of transfusion-associated graft-versus-host disease (TA-GVHD). The diagnosis of GVHD was based upon the characteristic clinical picture and retrospective HLA typing. The implicated donor was homozygous for an HLA haplotype that appeared to be shared with the recipient: A24-CBL-Bw52-DR2-DRw52-DQw1, the most common haplotype in the Japanese population. This case raises the possibility that a transfusion of relatively fresh blood from a donor who has no HLA antigens incompatible with the recipient may result in GVHD in patients with no apparent immunoincompetence who are undergoing relatively minor surgery with no chemotherapy or radiation therapy.
Asunto(s)
Colecistectomía , Dermatitis Exfoliativa/etiología , Enfermedad Injerto contra Huésped/etiología , Reacción a la Transfusión , Transfusión Sanguínea/mortalidad , Colecistectomía/efectos adversos , Colecistectomía/mortalidad , Dermatitis Exfoliativa/mortalidad , Femenino , Enfermedad Injerto contra Huésped/mortalidad , Haplotipos , Prueba de Histocompatibilidad , Humanos , Masculino , Persona de Mediana Edad , Linaje , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/mortalidad , Estudios RetrospectivosRESUMEN
We have previously found that the inhibitory effect of hemoglobin F (Hb F) on the polymerization of Hb S proceeds via the formation of asymmetrical hybrid tetramers of the type alpha2betasgamma. Examination of the gelling properties of binary mixtures of Hb S and several Hb variants now shows that, among the gamma chain amino acid residues that differ from those of the beta chain, residues gamma80 (EF4) and gamma87 (F3) are at least partly responsible for this inhibition. Furthermore, we find that mixing Hb A2(alpha2delta2) with Hb S strongly inhibits gelling to an extent similar to that seen with Hb S/Hb F mixtures; this inhibition is attributable to amino acid differences between the delta and beta chain sequences at positions delta22 (B4) and delta87 (F3). Therefore, residues 22, 80, and 87 of the beta chain appear to be involved in intermolecular contact sites that stabilize the deoxy Hb S polymers.