TRISOMY 12 MOSAICISM IN AN INFERTILE MAN

1977 ◽  
Vol 19 (3) ◽  
pp. 565-567 ◽  
Author(s):  
C.-L. Richer ◽  
G. Bleau ◽  
A. Chapdelaine

Cytological studies of peripheral blood lymphocytes from an infertile man revealed the presence of a mosaic trisomy 12. To our knowledge this has not been previously reported in patients. The clinical manifestations in this case enhance the interest of the cytological findings.

2007 ◽  
pp. 41-46
Author(s):  
I. V. Demko ◽  
A. B. Salmina ◽  
A. V. Morgun ◽  
N. A. Malinovskaya

P-glycoprotein (Pgp) is a membrane transporter of hydrophobic molecules providing efflux of xenobiotics from the cytosole outside the cell. In epithelial cells, Pgp is thought to be responsible for resistance to steroids. Severe bronchial asthma (SBA) is a heterogenous disease characterized by resistance to and dependence on steroids. The goal of this study was to assess expression of Pgp on peripheral blood lymphocytes in severe bronchial asthma and to evaluate the role of Pgp in developing the resistance to glucocorticoid therapy (GC). Assessment of Pgp expression revealed difference in response to GC treatment. All the patients were susceptible to GC, however, the time of therapeutic effect appearance and the number of Pgp-immunopositive cells differed significantly. Thus, more prolonged application of GC for reducing clinical manifestations was required in patients with aspirin induced or fatal bronchial asthma. The number of Pgp-immunopositive lymphocytes per one patients was significantly higher in patients with fatal bronchial asthma and in patients with steroid dependent bronchial asthma (6.8 ± 0.1 and 7.2 ± 0.2, respectively) comparing with patients with non stable bronchial asthma being therapeutically resistant (3.2±0.2 and 3.5±0.1, respectively). Thus, our findings suggest possible pathogenic role of Pgp in development of resistance to GC therapy in patients with bronchial asthma. Detection of Pgp expression on peripheral blood lymphocytes would allow optimizing the volume and duration of intensive anti inflammatory therapy and predicting the doses of basic drugs.


Author(s):  
O.D. Aleksandruk

Objective — to study the dynamics of peripheral blood lymphocytic populations in adult patients with atopic dermatitis (AD) with the onset of the disease in childhood, depending on the level of IgE secretion and the method of treatment. Materials and methods. We examined 67 adult patients with AD, which were divided into 4 groups depending on the level of total serum IgE and the basic treatment or treatment in combination with Glycine and Ketotifen. The severity of AD was determined by the SCORAD index. The content of peripheral blood lymphocytes according to the phenotype CD3+, CD4+, CD8+, CD19+, CD65+, HLADR+ and CD95+ was assessed during hospitalization of patients, at the end of the inpatient stage of treatment and after 1 month of outpatient follow-up. The obtained data were compared with the indices of the control group and between the groups of examined patients with AD in the dynamics of their treatment and observation. The results were processed statistically using the methods of parametric and nonparametric statistics. Results and discussion. The indices of the number of cells of peripheral lymphocytic populations of different CD pheno­type in the groups in the dynamics of observation were determined, their relationship with the severity of the course of AD was established, and differences were found depending on the pathogenetic variant of AD. Against the background of an exacerbation of AD, a significant increase in the number of cells in most of the defined populations was revealed, with its gradual decrease as the clinical manifestations of AD subsided. It was established that 1 month after achievement of clinical/subclinical remission, a part of the peripheral blood lymphocytic populations was characterized by higher values compared to the norm. In patients with an IgE-dependent AD variant, aggravation is accompanied by high levels of peripheral lymphocytes with CD3+, CD4+, CD8+, CD19+ and HLA-DR phenotypes, which more often than in the case of an IgE-independent variant of AD, remain above the norm after 1 month of outpatient monitoring. Introduction of glycine and ketotifen to the treatment complex for patients with AD is accompanied by a faster return of peripheral lymphocyte cells to normal values, which is more evident in patients with an IgE-dependent variant of AD. Conclusions. In adult AD patients, the dynamics of the number of peripheral lymphocyte population cells depends on the severity of the disease, its pathogenetic variant and the treatment received by the patient. Against the background of the use of glycine and ketotifen, the normalization of indicators of peripheral lymphocytic populations occurs significantly faster than with only standard basic therapy.


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