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Biomedical subjects

J Lusher

Publications and source records attributed to J Lusher.

29 records · Page 2Linked to original sources

Accurate prenatal diagnosis with novel polymerase chain reaction primers in a family with sporadic hemophilia A.

Novel oligonucleotide primers are described for the convenient and internally controlled detection of the BclI factor VIII polymorphism on agarose gels. The primers were used for prenatal diagnosis in a family in which only one individual was affected with hemophilia A. In such families, it is important for the mother to understand that uncertainty about the point of origin of the mutation precludes the accurate diagnosis of affected fetuses but does allow the accurate diagnosis of unaffected fetuses in many cases.

Blotting, Southern↗

Increase in Leu 2+ Leu 7+ lymphocytes in HIV 1-seropositive patients with hemophilia repeatedly treated with clotting factor concentrates.

The fact that patients with hemophilia treated with clotting factor and HIV 1-seronegative subjects with congenital anemias given repeated blood transfusions both have decreased ratios of T4/T8 lymphocytes and diminished NK cell activity indicates that these immunological abnormalities can be due to repeated exposure to blood and blood products, and are not necessarily indicative of HIV 1 infection. To search for an immunological change specific for HIV 1 infection we tested 36 hemophiliacs (22 HIV 1-seropositive, 14 HIV 1-seronegative), and 27 normal subjects for peripheral blood lymphocytes which coexpress Leu 2, a marker associated with suppressor/cytotoxic cells, and Leu 7, an NK cell marker. Compared to normal subjects, seropositive hemophiliacs showed a 2.5-fold increase in Leu 2+ Leu 7+ cells. No increase in this population was seen in the seronegative hemophiliacs. An increase in the percentage of Leu 2+ Leu 7+ cells is therefore an immunological alteration associated with HIV 1 infection but not blood product exposure per se.

Adult↗

Diminished helper/suppressor lymphocyte ratios and natural killer activity in recipients of repeated blood transfusions.

Immunologic abnormalities qualitatively similar to those seen in acquired immunodeficiency syndrome (AIDS), including a low helper/suppressor lymphocyte ratio and low natural killer (NK) activity, have been observed in many hemophiliacs receiving clotting factor concentrates. To determine whether these changes also occur after repeated blood transfusion, we measured helper/suppressor (T4/T8) ratios and NK activity in four groups of test subjects: (A) 30 subjects with sickle cell anemia (SCA) receiving monthly transfusions, (B) 30 nontransfused sickle cell anemia subjects, (C) 87 individuals with hemophilia or severe von Willebrand's disease, and (D) 30 normal controls. Like the hemophiliacs, transfused SCA subjects had low T4/T8 ratios and low NK activity compared to controls. Nontransfused SCA subjects had normal values. These findings suggest that a modest decrease in T4/T8 ratio and NK activity may be part of the normal immune response to repeated transfusion.

Adolescent↗

Periodic transfusions for sickle cell anemia and CNS infarction.

Recurrences of CNS infarction often lead to progressive neurologic disability in sickle cell anemia. To prevent such reccurrence, a periodic blood transfusion program was begun in 1969. Currently, 27 patients are on this regimen. Before inclusion in the program, 12 patients had had one to nine CNS recurrences each. Since the program was started, two patients have had transient CNS ischemia. There were no other recurrences and none of the patients have shown progression of neurologic abnormalities. In addition, there was a striking decrease in bacterial infection and pain. We conclude that periodic transfusions are effective in preventing recurrent CNS infarction in sickle cell anemia. The benefits must be weighed against the potentially serious problem of iron overload, as evidenced by moderately elevated serum ferritin values.

Adolescent↗

Primary malignant lymphoma cutis in an infant: case report and review of literature.

A 6-month-old infant with primary malignant cutaneous lymphoma is presented. The histologic differentiation between benign cutaneous lymphoid hyperplasia and cutaneous malignant lymphoma is discussed. Intensive therapy is warranted at the onset because of early dissemination and poor response to treatment after dissemination.

Antineoplastic Agents↗

New leukemia in the course of therapy of acute lymphoblastic leukemia.

We have recently observed the development of second leukemia of a morphologically different type in three patients with acute lymphoblastic leukemia (ALL) while on therapy. The "second" leukemia occurred while on therapy at 23, 27, and 32 months of initial remission. All three were receiving systemic chemotherapy (CT) and prophylactic fractional irradiation to the central nervous system (CNS). The second leukemias in these three cases were one case of juvenile chronic myelogenous leukemia (JCML) and two cases of acute leukemia of the myeloblastic type by the usual morphologic criteria including the presence of Auer rods in one. In two cases a cytogenetically new clone was detected in the remission marrow 10 and 12 months preceding the overt change in clinical status. These three cases demonstrate that second leukemia occurs in patients with ALL and that some late "relapses" fall into this categpry. The possible etiologic role of modern intensive treatment regimens in the development of second leukemia is discussed.

Child, Preschool↗