Tetralogy of Fallot with pulmonic atresia with cyclic occlusion of an associated aortic sinus of Valsalva-pulmonary artery window.

A first case of an unusual aortopulmonary window with tetralogy of Fallot associated with pulmonary atresia is presented. The aortopulmonary window was at the aortic sinus of Valsalva. The left aortic leaflet prevented pulmonary hypertension by occluding the window in systole.

A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.

We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes. Comparison of the sequences of the deletion junction with those of the flanking normal DNA suggests that the deletion results from a non-homologous recombination event. The insertion of 16 'orphan' nucleotides in the deletion junction creates a perfect inverted repeat of 12 nucleotides, forming a 12-bp stem with a four-nucleotide loop that could have contributed to the illegitimate recombination. The 3' breakpoint is located within an L1 family repeat that contains a perfect 160-bp palindrome, and is in close proximity to the 3' breakpoints of five other deletions in the beta cluster - Indian (HPFH-3), Italian (HPFH-4) and Vietnamese GgammaAgamma (deltabeta) degrees HPFH, German and Belgian Ggamma (Alphagammadeltabeta) degrees thalassaemia.

Aloinmunización plaquetaria en pacientes onco-hematológicos politransfundidos: estudio prospectivo en adultos y niños / Platelet alloimmunization in patients with multiple transfusions. Prospective study in adults and children

Background: Refractoriness continues to he a major complication of platelet transfusion therapy in patients with multiple transfusions: Despite most cases are secondary to non-immune causes, the most serious is that associated to alloimmunization. The incidence and consequences of HLA and non-HLA (platelet specific) antibodies are unknown in our country. Aim: To prospectively determinate the frequency and characteristic of post transfusion alloimmunization and the incidence of platelet specific antibodies. Patients and methods: Forty one adults and 24 children with a recently diagnosed malignancy and undergoing chemotherapy that required multiple transfusions were studied. Screening for antiplatelet antibodies (platelet membrane ELISA) was performed before the first transfusion, every four weeks or whenever the 1 hour corrected count increment for platelet transfusions was lower that 5000. Platelet specific antibodies werw identified with a monoclonal antibody-specific immobilization of platelet antigens (MAIPA), with anti-GPIIb, GPIIb/IIIa, GPIa/lia and anti-HLA class I. Results: Adult patients received an averafge of 10.2 ñ 5.5 units of red blood cells and 58.6 ñ 35.4 units of platelets. Children received 4.8 ñ 3.7 units of red blood cells and 9.6 ñ 6.7 units of platelets. HLA antibodies appeared in 7 of 41 adult patients (17 percent), platelet specific alloantibodies were found in two patients (one anti GP Ia/IIa and one anti GP ib). Platelet refractoriness appeared in three alloimmunized patients. No Child had detectable serum antibodies during follow up. Conclusions: Platel transfusion refractoriness of immune origin occurs infrequently in our population and the presence of platelet antibodies does not mean that it will appear. The use of leukocyte depleted blood components to prevent refractoriness cannot be justified at this time

Hidrops fetal no inmune asociado a talasemia familiar: transfusión intravascular / Non-immune fetal hidrops associated to familiar thalasemia: intravascular transfussion

Se presenta un caso de hidrops fetal no inmune provocado por una anemia hemolítica severa secundaria a una talasemia familiar pesquisada a las 28 semanas y que revierte luego de transfusión intravascular, TIV, practicada en nuestro servicio. Se analiza el diagnóstico, manejo prenatal y posterior evolución

Reconstitución inmunológica mediante trasplante medular en un paciente portador de inmunodeficiencia combinada severa / Immunologic reconstitution by bone marrow tranplantation in a patient with severe combined immunodeficiency

Un paciente de 6 meses de edad, portador de una Inmunodeficiencia Combinada Severa, fue tratado mediante trasplante de médula idéntico (TM), obtenido de una hermana gemelar, bivitelina. El lactante no recibió terapia condicionante previa y tampoco terapia inmunosupresora. La evolución que siguió al procedimiento demostró una rápida normalización de los mecanismos inmunológicos mediados por linfocitos T y B. Como complicación al TM se apreciaron diferentes manifestaciones sugerentes de reacción injerto versus huésped (GVH) la que fue controlada mediante el uso de esteroides endovenosos y orales. Un eritema en el lugar de inoculación de la vacuna BCG, hallazgo que no hemos encontrado en la literatura relacionada con pacientes sometidos a este procedimiento, fue analizado con biopsia de piel, demostrando signos locales de reacción GVH. En las estructuras profundas se pudo identificar material caseoso y los estudios bacteriológicos demostraron la presencia de bacilos BCG. Una reacción eritematosa semejante ha sido descrita en la E. de Kawasaki. La evolución posterior, después de un año de efectuado el trasplante, se ha caracterizado por un incremento notable del desarrollo pondoestatural, con excelente estado general, evaluación inmunológica dentro de rangos normales y ausencia de episodios infecciosos