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Biomedical subjects

P Beris

Publications and source records attributed to P Beris.

At least 55 records · Page 3Linked to original sources
PubMed1993

Recombinant human erythropoietin as adjuvant treatment for autologous blood donation. A prospective study.

In a prospective randomized study we investigated the potential of subcutaneous recombinant human erythropoietin (rhEpo) as adjuvant treatment for autologous blood transfusions (3 units) in elective surgery. Four and 2 weeks before surgery, 49 patients received 6 x 10,000 U of rhEpo. delta Hb values (days -28 and 0) of the rhEpo group were compared to delta Hb values of 52 controls (no rhEpo). Reticulocytes were measured at days -21, -14, -7 and 0. Peri- and postoperative supplementary homologous blood requirements were compared in the two randomized groups. delta Hb of rhEpo group was 0.96 g/dl (mean value) and 2.38 for controls. Reticulocyte count increased earlier and to higher levels in rhEpo-treated patients. Except in 1 case, Epo was well tolerated. These results indicate that autologous predonation (3 x 400 ml) does not create anemia if adjuvant Epo treatment is given. However, homologous blood requirements were not significantly different, which is probably due to the fact that 96 of the 101 treated patients underwent elective orthopedic surgery requiring limited blood replacement. Significant benefit of the Epo regimen can be expected in elective cardiovascular and hepatic surgery where larger amounts of blood (5-6 units) are needed.

Adult↗
PubMed1993

Adoptive immunotherapy for recurrent CML after BMT.

Three patients with CML who relapsed after transplantation with T-depleted BM from their HLA-identical siblings were treated with transfusions of donor peripheral blood mononuclear cells, in combination with (short) IFN alpha 2 therapy. CML was successfully controlled as shown by the complete disappearance of Philadelphia-positive metaphases within 90 days of treatment. This treatment appears to be very effective as neither bcr-abl transcripts nor markers specific for hematological cells of recipient origin could be detected by very sensitive PCR techniques. Two patients treated in chronic phase are without evidence of disease 300 and 360 days after treatment. The third patient, treated in accelerated phase, died with BM aplasia, 39 days following PBMC infusions. Failure to detect residual donor-derived granulocytes, as was the case in this patient prior to initiating adoptive immunotherapy, may indicate loss of donor-derived BM activity. This may help predict and possibly prevent the occurrence of life-threatening aplasia after successful clearance of malignant hematopoiesis.

Acute Disease↗
PubMed1992

Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin.

We have sequenced the 5' hypersensitive-2 (5'HS-2) site of the locus control region (LCR) and the promoters of the two gamma-globin genes located on chromosome 11 of a black patient with mild beta-thalassemia (beta-thal) major due to a homozygosity for the C----T mutation at position -88 of the beta promoter and with a high Hb F level. Sequence variations in the 5'HS-2 were the same as observed for the beta s chromosome with haplotype number 3, while most of the G gamma promoter and the A gamma promoter had sequences similar to that of the beta S chromosome with haplotype number 19. This atypical haplotype (number 19A) is apparently associated with an increased gamma chain production which is particularly evident during periods of severe hematopoietic stress. Additional studies on relatives of the proband and on 10 unrelated black beta-thal homozygotes with either the C----T mutation at -88 or the A----G mutation at -29, confirm the possible importance of the sequence differences in the 5'HS-2, and also suggest that at least two additional factors, namely a C----T mutation at position -158 of the G gamma promoter and a relative deficiency in alpha chain synthesis play a (perhaps less important) role in the increased Hb F synthesis in these patients.

Adenine↗
PubMed1992

Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome.

Defects of 3q in bands q21 and q26 have been reported in more than 70 cases of acute nonlymphocytic leukemia (ANLL), myelodysplastic syndrome (MDS), and myeloproliferative disorder (MPD) in blast crisis. In this paper three additional patients are described: patient 1 with refractory anemia with excess of blasts in transformation (RAEB-T) and inv(3)(q21q26), patient 2 with RAEB-T and t(3;3)(q21;q26), and patient 3 with myelofibrosis with myeloid metaplasia (MMM) in blast crisis and inv(3)(q21q26). In addition to 3q rearrangements, monosomy 7 and del(7)(q22q36) were observed in patients 1 and 2, respectively. In the three patients, the most characteristic clinical features were elevated platelet counts, marked hyperplasia with dysplasia of the megakaryocytes, and poor prognosis. Although disturbance of thrombopoiesis was not systematically observed in all patients with t(3;3)(q21;q26), inv(3)(q21q26), and ins or dup(3)(q21----q26), study of the 77 cases reported and of the three cases presented here brings further evidence to the existence of a cytogenetic syndrome involving bands q21 and q26 simultaneously, which represents a subtype of ANLL, MDS, and MPD, characterized by normal or elevated platelet counts, hyperplasia with dysplasia of megakaryocytes, multilineage involvement, young median age of patients with MDS, preferential involvement of women in t(3;3), high incidence of chromosome 7 defects in MDS and ANLL, short duration of the MDS phase, no response to chemotherapy, short survival, and por prognosis.

Adult↗
PubMed1992

Trisomy 8 detection in granulomonocytic, erythrocytic and megakaryocytic lineages by chromosomal in situ suppression hybridization in a case of refractory anaemia with ringed sideroblasts complicating the course of paroxysmal nocturnal haemoglobinuria.

Paroxysmal nocturnal haemoglobinuria (PNH) was diagnosed in a 20-year-old male patient who suffered from anaemia since the age of 11. Eighteen years after diagnosis, PNH transformed into refractory anaemia with ringed sideroblasts (RARS). Trisomy 8 was observed in 27%, 45% and 53% of the bone marrow metaphase cells analysed in 1987, 1988 and 1990 respectively. In order to determine which bone marrow cell lineages were affected by trisomy 8 and at which stage of stem cell differentiation, MAC (Morphology, Antibody, Chromosomes) and CISS (Chromosomal In Situ Suppression) hybridization techniques were combined. The MAC technique enables karyotypic analysis of morphologically and immunologically classified mitotic cells. CISS hybridization makes it possible to detect individual chromosomes and chromosome aberrations using recombinant DNA libraries from sorted human chromosomes. Trisomy 8 was detected in granulomonocytic (50.6%), erythrocytic (67.2%) and megakaryocytic (one megakaryocyte with trisomy 8, one normal) lineages, providing evidence for the occurrence of trisomy 8 in early haematopoietic cell precursors, at the GEMM or pluripotent level. Cytogenetic and clinical data suggest that the sideroblastic clone originated from a mutation affecting a cell of the PNH clone, progressively replaced by the PNH/RARS clone, due to proliferative advantage.

Adult↗
PubMed1991

[Unusual initial manifestation in a case of refractory anemia with excess of blasts].

In 1987, a 50-year-old patient presented with isolated thrombocytopenia (27,000/mm3) which proved to be refractory to steroid medication and high i.v. doses of immunoglobulin. Two years later he developed macrocytic anemia. Chromosomal analysis confirmed the diagnosis of myelodysplastic syndrome (MDS), refractory anemia type with blast excess. Cytogenetically, three cellular populations were observed: one normal (75% of metaphases) and two abnormal, clone A (2%) 46,XY, del(5q), del(11q), and clone B (23%) 46,XY, del(5q), del(11q) plus 2 other anomalies. Evolution was characterized by worsening of the bicytopenia with marked hypoplasia of the megakaryocytic and erythroid series while the percentage of blasts remained stable. Concerning the chromosomal markers, the normal population disappeared and clone A became predominant (clone A 97%, clone B 3%). This case shows that isolated thrombocytopenia can be the sole initial manifestation of MDS. We discuss the possibility that "refractory thrombocytopenia" constitutes a diagnostic category like refractory anemia or refractory anemia with ring sideroblasts. The proliferative advantage of clone A or the disadvantage of clone B may be due to the occurrence of new, cytogenetically non-detectable mutations.

Anemia, Refractory, with Excess of Blasts↗
PubMed1991

Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha globin locus, anti-3.7 kb type, with heterozygous codon 39 C----T beta (0) thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion: a single extra alpha-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severe beta(+) or beta(0) thalassemic mutation.

Adult↗
PubMed1991

Disseminated toxoplasmosis in a severely immunodeficient patient: demonstration of cysts in bone marrow smears.

A 30-year-old woman was treated with unrelated HLA-compatible bone marrow transplantation for acute myeloid leukemia. Examination of her bone marrow smears because of fever and pancytopenia revealed the presence of Toxoplasma cysts. Although Toxoplasma cysts are rarely found in the bone marrow, bone marrow examination in the immunocompromised patient offers rapid diagnosis of systemic toxoplasmosis.

Adult↗
PubMed1991

Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland.

During a 10-month period, 10 couples originating from Africa (3), the tropics (1) and the thalassemia-belt region (6), living in Switzerland, requested prenatal diagnosis of hemoglobinopathies. Hb SS (twice), Hb Bart's (Hydrops fetalis) and beta-thalassemia major were diagnosed either by gene mapping or by direct detection of the mutations in DNA amplified by the PCR procedure. Whenever it was possible to obtain fetal blood or tissue, diagnosis was confirmed. In one Vietnamese man, concomitant existence of alpha-thal 1 with beta-thalassemia resulted in an unusually high Hb level because of balanced alpha and beta globin synthesis. The 10 couples examined originated from 7 different countries and presented at least 7 different Hb pathologies. This variety of pathologies represents the main difficulty for prenatal diagnosis of hemoglobinopathies in a non-endemic country. A diagnostic approach to overcome this problem is developed.

Base Sequence↗
PubMed1991

The usefulness of sequence analysis of amplified DNA for the identification of delta chain variants.

A method of identifying delta chain variants using relatively small volumes of blood is described. The procedure consists of the amplification of two segments of genomic DNA with two sets of delta chain specific primers and sequencing of the three exons (exons 1, 2, and 3) which are part of the amplified DNA segments. Data for three delta chain variants present in seven adult heterozygotes are presented.

Adult↗
PubMed1990

Cytogenetic analysis of 54 cases of myelodysplastic syndrome.

Fifty-four patients with myelodysplastic syndrome (MDS) (35 men and 19 women aged 34-92 years) were studied cytogenetically. Bone marrow cell culture and chromosome preparation were performed according to four different protocols used in parallel: methotrexate (MTX)-synchronized or thymidine (TdR)-unsynchronized techniques, and presence or absence of 5637 conditioned medium (CM). Some patients responded better to MTX; others had better results with TdR exposure only. Use of 5637 CM generally improved quantity and quality of metaphases. A cytogenetic result was obtained in 53 cases. 60% of the patients had a chromosome abnormality. Percentage of abnormality varied from one French-American-British (FAB) subtype to the other: 62% in refractory anemia with ringed sideroblasts (RARS, 8/13), 50% in refractory anemia (RA, 6/12), 60% in refractory anemia with excess of blasts (RAEB, 3/5), 77% in refractory anemia with excess of blasts in transformation (RAEB-T, 7/9), and 57% in chronic myelomonocytic leukemia (CMMoL, 8/14). Chromosome defects were subdivided into three categories: single, two, and complex defects. The most frequent chromosome abnormalities, either single or one of two or complex defects were del(5q) or monosomy 5 (13 cases), trisomy or rearrangement of chromosome 8 (eight cases), total or partial monosomy or rearrangement of chromosome 7 (eight cases), Y loss (seven cases), and del(20q) (two cases). With the exception of del(5q) in macrocytic RA, this study confirms the absence of chromosome defects specific to each FAB category of MDS. Recurrent defects in MDS are relatively limited, however, in terms of chromosomes involved and type of abnormality. Consequently, these defects, mostly of deleted type, are assumed to play a specific role in the genesis of myelodysplasia.

Adult↗
PubMed1990

Association of thrombotic thrombocytopenic purpura and human immunodeficiency virus infection.

A 35 year-old HIV-positive male intravenous drug abuser developed thrombotic thrombocytopenic purpura (TTP) during the course of recto-sigmoiditis secondary to Shigella flexneri. Complete remission was achieved by aggressive treatment of a combination of plasma exchange, fresh frozen plasma infusion, continuous prostacyclin perfusion, p.o. administered aspirin-dipyridamol and intravenous injections of vincristine. During acute microangiopathy, an acquired type II von Willebrand disease was diagnosed. TTP is a newly-recognized hematologic manifestation of HIV-1 infection; endothelial damage by endotoxin during course of infection or by high serum levels of circulating immune complexes may be a causative mechanism of microangiopathy causing hemolysis and platelet consumption.

Adult↗
PubMed1989

Eleven cases of neoplastic microangiopathy.

Between 1981 and 1988, we recorded 11 patients presenting a neoplastic microangiopathy. All patients suffered from adenocarcinoma, except one with an undifferentiated lung carcinoma; the origin of the tumor was mammary in 5 cases and gastric in 3. In our study, microangiopathy was the first manifestation of the neoplastic disease on 3 occasions; on 7 occasions it was a complication of an advanced stage of a known oncological disease; and on 1 occasion it occurred during a course of intra-arterial chemotherapy. Regenerative anemia (mean 9.5 g/dl hemoglobin), thrombocytopenia (mean 42,000 platelets/mm3), and an elevated LDH value (mean 1,268 U/l) characterized these patients. Disseminated intravascular coagulopathy (DIC) was found in half the cases in which it was sought. In spite of aggressive antitumoral treatment, the course was disastrous with an average survival of 13.6 days. The most frequent causes of death were renal insufficiency or hemorrhagic diathesis. These data corroborate those cited in the literature since 1979, and are consistent with those reported by Antman during the period 1962-1979.

Adenocarcinoma↗