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Biomedical subjects

P Beris

Publications and source records attributed to P Beris.

At least 73 records · Page 4Linked to original sources
PubMed1988

[Thrombocytopenia and HIV: the role of splenectomy].

Severe thrombocytopenia has been diagnosed in HIV seropositive patients independently of the clinical stage of disease. In view of its immunologic origin, attempts have been made to treat this condition with drugs which have proved effective in the treatment of autoimmune thrombocytopenia, though with little or no beneficial effect to these patients. This communication deals with the observation (5-22 months) of 5 HIV seropositive patients with severe thrombocytopenia who were resistant to steroids, high dose i.v. immunoglobulin and Danazol. They all responded well to splenectomy, with only one patient relapsing after 4 months. However, 2 patients showed deterioration of the immunodeficient state: in one patient the number of CD4 lymphocytes decreased and the other died of multifocal leuko-encephalopathy 4 months after splenectomy. Based on this small series, splenectomy seems to be effective in the treatment of thrombocytopenic HIV seropositive patients. However, long-term hazards still have to be assessed.

Acquired Immunodeficiency Syndrome↗
PubMed1988

[Screening for alpha-thalassemia using DNA analysis].

alpha-thalassemia was sought by gene mapping in 258 subjects selected on the basis of origin (25%), microcytosis (7%), or origin and microcytosis combined (64%). Abnormal fragments (Xba I/probe alpha) were found in 58 cases (22.5%). Using other restriction enzymes it was possible to determine the genotype alpha-/aa in 39 patients and the genotype alpha-/alpha- in 13 patients; 2 patients also exhibited hemoglobin H (alpha-/--) disease. alpha triplication anti-3.7 kb was found in 2 subjects and zeta-thalassemia in 2 other samples. 57 out of 58 patients originated from the thalassemia belt or from Africa. alpha-thalassemia is the most frequent hemoglobinopathy (21% of patients at risk) and hematologically is characterized by microcytosis. The Hb A2 level is decreased only in the alpha-/-- form of the disease. The main advantage of diagnosing zeta-thalassemias and alpha triplications lies in the possible clinical implications in the event of association with other hemoglobinopathies or beta-thalassemia.

Diagnosis, Differential↗
PubMed1988

Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114.

We have analyzed the sequence of the beta globin gene of a chromosome that is linked to the occurrence of an inclusion body beta-thalassemia characterized in the heterozygote by moderate anemia, severe red cell abnormalities, splenomegaly, inclusion body formation, elevated Hb A2 levels, and an increased in vitro alpha/beta chain synthetic ratio. The data indicate a change in codon 114 from CTG (Leu) to -GG that resulted in a frameshift and the presumed synthesis of an abnormal beta chain that is 156 residues long with a completely different C-terminal amino acid sequence. The change in codon 114 gives a -GGGCCC- sequence that creates a new ApaI site; the resulting 2.6-kilobase fragment has been observed in all subjects with this thalassemia condition. Protein structural analyses failed to demonstrate any trace of the abnormal beta chain, even in reticulocytes and nucleated red cells that were isolated by density gradient centrifugation. The inclusion bodies appear to contain mainly normal alpha chains. It is assumed that the structure of the beta-Geneva chain prevents it from combining with normal alpha chains; this results in a rapid breakdown of the abnormal protein during the early stages of red cell maturation and an accumulation of free alpha chains.

Adult↗
PubMed1987

[Treatment of severe aplastic anemia with a cyclosporin-corticosteroid combination].

Four patients with severe aplastic anemia were treated with a combination of cyclosporin (5 mg/kg/day) and steroids (prednisone 0.2-0.8 mg/kg/day 3/4 days). A positive response (transfusions stopped, granulocytes greater than 1500/mm3, thrombocytes greater than 50,000/mm3) was achieved in three of these patients. The therapy had a rapid effect on reticulocytes and granulocytes (7-14 days) while platelet numbers took longer to correct (2-4 months). All patients presented signs of dyserythropoiesis with macrocytosis. Side effects of therapy were minor (tremor, water retention, gynecomastia, hirsutism). In this series, the combination of cyclosporin with steroids appears to be an effective treatment for severe aplastic anemia with a more rapid result and better tolerance in comparison to antilymphocyte serum.

Adrenal Cortex Hormones↗
PubMed1987

HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes.

Data on a 24-year-old Chinese male with Hb Q-Thailand-Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse-phase high-performance liquid chromatography. Gene mapping analyses identified the alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.

Adult↗
PubMed1987

Haplotypes and alpha globin gene analyses in sickle cell anaemia patients from Kenya.

Over 60 patients from the Luo and Luhya tribes of Western Kenya, aged 1-23 years, with severe sickle cell anaemia were evaluated through haematological and gene mapping analyses. Nearly all (56 of 58 tested) were homozygous for haplotype 20 (Antonarakis et al, 1984) which is also frequently present in SS patients of the Central African Republic. All patients had a severe haemolytic anaemia with low Hb F levels and low levels of G gamma chains. An alpha-thalassaemia-2 heterozygosity (-alpha/alpha alpha; -3.7 kb deletion) was present in 26 of 53 patients tested; one patient was a homozygote [f(-alpha) = 0.255]. The alpha-thal-2 was type I in all but one subject with this deficiency; the one exception had an alpha-thal-2 heterozygosity, type II. Heterozygosity for the alpha-thal-2 did not affect the clinical condition nor the haematology; Hb F levels were somewhat lower in SS patients with -alpha/alpha alpha than in those with alpha alpha/alpha alpha. A high frequency was observed for the absence of an Xba I restriction site 5' to the zeta globin gene; the frequency of this anomaly [f(Xba I-)] was estimated at 0.39 for the chromosome with two alpha globin genes and at 0.74 for that with the alpha-thal-2 deletion. An Apa I restriction site polymorphism was observed in the IVS-II of the alpha 2 globin gene; 13 alpha 2 genes of 53 normal (alpha alpha/) chromosomes had this restriction site which was absent in the hybrid alpha globin gene of the -alpha/chromosome.

Adolescent↗
PubMed1986

[Hemolytic anemia secondary to taking cyanidanol: demonstration of the mechanism of the erythrocyte damage].

A 36-year-old patient with chronic active hepatitis developed Coombs direct positive acute hemolytic anemia 2 weeks after a second course of cyanidanol (Cy). The patient's serum agglutinated control 0 Rh- erythrocytes only in the presence of Cy. Human anti-globulin test showed that the red cells were covered with IgG as well as C3 and C4. Control erythrocytes previously treated with Cy were also agglutinated by the patient's serum (dilution 1:64). Upon addition to the serum of Cy (concentration up to 10 micrograms/ml), the agglutination was enhanced up to a serum dilution of 1:256. Further increase of the Cy concentration (greater than 10 micrograms/ml) was followed by a decreased reaction. These results indicate that red cell damage in this patient was mediated by both mechanisms, i.e. with immune complexes acting on "normal" red cells and also with antibodies acting on cyanidanol-coated red cells.

Adult↗
PubMed1986

[Hb Q-H: study of in vitro globin chain synthesis in reticulocytes and erythroblasts].

The case is reported of a 24-year-old Chinese patient with congenital hemolytic anemia (Hb 95 g/l, MCV 71 fl, MCHC 29 g%, reticulocytes 165% RBC). Clinical examination revealed jaundice and marked splenomegaly. Isoelectric focusing of Hb and Hb chains showed the absence of HbA, the presence of rapid Bart's and H Hb and the presence of an alpha chain variant alpha Q-Thailand, alpha 74 Asp----His (confirmation by fingerprinting of Hb). In vitro globin chain synthesis in reticulocytes and erythroblasts indicates that this variant is localized in an alpha-thal-2 chromosome. Furthermore, this variant does not exhibit any transcriptional defect of the alpha Q gene or any instability, since its association with a second alpha-thal-1 chromosome leads to a deficit of alpha chain production identical to that observed in Hb H disease (alpha alpha 0/alpha 0 alpha 0).

Adult↗
PubMed1986

Adrenocortical responsiveness after discontinuous corticosteroid therapy.

Plasma cortisol levels and the response of the adrenal gland to 0.25 mg ACTH administration were measured in 12 patients receiving 15 mg or more of a short-acting steroid (fluocortolone or prednisone) on three out of four days, in 10 patients on daily steroid treatment (15 mg prednisone or more per day), and in 9 normal subjects. The basal plasma cortisol level of the first group was between that of patients on daily prednisone treatment and that of normal subjects. The adrenal function in patients on the three out of four day treatment schedule appeared to be slightly diminished, yet still within the accepted limits for adrenals capable of responding adequately to stress. The adrenal function proved insufficient in all patients on daily steroids. The three out of four day steroid regimen thus offers a solution with many advantages over continuous steroid treatment for patients refractory to the alternate-day schedule.

Adolescent↗
PubMed1986

Ring chromosomes and hematologic disorders.

Based on 5 years of cytogenetic evaluation in hematology, we report our observations on various hematologic proliferative disorders with ring chromosomes. Comparing our data to those previously published in the literature we analyzed the occurrence of the ring in relation to the age of onset, previous history of therapeutic or professional exposure to mutagenic agents, and mean survival. It is concluded that the presence of ring chromosomes may be linked to a poor prognosis.

Adult↗
PubMed1985

Translocation 2;11 and other significant chromosome changes in acute monoblastic leukemia (M5) with clonal evolution: sequential clinical and cytogenetic studies.

An elderly woman presented with pancytopenia resulting from acute monoblastic leukemia (AMoL) type M5a. At the time of diagnosis, the marrow metaphase studies revealed a pseudodiploid idiogram: 46,XX,t(2;11)(q37;q23),(t(7;9;10)(q22;q22;p13). At relapse, 7 months later, a clonal derivative of the initial pseudodiploid pattern was identified. Though alterations of chromosome regions 7q22 and 9q22 are frequently seen in acute nonlymphocytic leukemia (ANLL), 11q structural anomalies are even more specific for this group of leukemias, and the involvement of band 11q23 is particularly striking in AMoL. Various chromosomes may take part in translocations with chromosome #11, but the participation of chromosome #2 as in this case is apparently rare.

Aged↗