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At least 1,279 records · Page 71Linked to original sources
PubMed2000

Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation.

OBJECTIVE: To evaluate the clinical effectiveness of multicolour fluorescent in situ hybridisation (FISH) analysis in routine prenatal diagnosis. DESIGN: Prospective study. SAMPLE: 3,203 amniotic fluid samples. METHODS: Unique DNA (chromosomes 13 and 21) and alpha satellite centromeric-specific (chromosomes X, Y and 18) probes were used in two mixes to permit the simultaneous analysis of several chromosomes. The performance of multicolour FISH and conventional cytogenetic analysis was compared. RESULTS: Conventional cytogenetic analysis identified 111 chromosomal abnormalities, of which 94 were potentially detectable by the FISH technique and 97 would be typically associated with neonatal phenotypic abnormalities. Multicolour FISH analysis detected 84% (93/111) of all chromosome abnormalities and 99% (93/94) of abnormalities where there was a specific probe. The sensitivity of multicolour FISH analysis was 95% (92/97) for chromosomal abnormalities likely to result in an abnormal postnatal outcome. Multiple ultrasound abnormalities were detected in all five cases of clinically relevant chromosomal abnormalities missed by multicolour FISH. FISH results were available within 48 hours and the sample failure rate was 0 x 1% (3/3,202). CONCLUSION: Multicolour FISH analysis is a sensitive and reliable technique for the rapid prenatal diagnosis of chromosomal abnormalities. Examining only five chromosomes allowed 95% of clinically relevant chromosomal abnormalities to be diagnosed correctly. As routine antenatal screening is targeted at the major autosomal trisomies and sex chromosome aneuploidies, multicolour FISH analysis may potentially replace conventional cytogenetic analysis in routine prenatal diagnosis.

Chromosome Aberrations↗
PubMed1979

Chronic myelomonocytic leukemia associated with hereditary pyruvate kinase deficiency and multiple acquired erythrocyte abnormalities.

A congenital erythrocyte pyruvate kinase (PK) deficiency was found in a 72-year old female patient with chronic myelomonocytic leukemia (CMML). Erythrocyte PK deficiency was associated with an increase in the activity of hexokinase, 6-phosphogluconate dehydrogenase and glutathione peroxidase in erythrocytes as well as a decrease in acetylcholinesterase, glutathione reductase and glucosephosphate isomerase activities. The enzymatic abnormalities were accompanied by alterations in hemoglobin and in i antigen content of erythrocyte membrane. In addition, bone marrow ultrastructural studies showed dyshemopoietic changes in all blood cell lines and especially in erythroblasts. The present findings confirm the close relationship between CMML and acquired dyserythropoietic syndromes and constitute a new observation of the infrequent association of hereditary erythrocyte enzymopathies and leukemia. A survey of the literature is presented.

Acetylcholinesterase↗
PubMed1990

Patients with endocrine ophthalmopathy not associated with overt thyroid disease have multiple thyroid immunological abnormalities.

Twenty-two apparently euthyroid patients with endocrine ophthalmopathy not associated with goiter, antithyroid microsomal or antithyroglobulin antibodies, or overt thyroid disease (so-called ophthalmic Graves' disease) were tested for subclinical hyperthyroidism or hypothyroidism. We measured 131I uptake and scan, serum T3 (by RIA), and serum TSH using a sensitive (by immunoradiometric assay) assay. Three patients were found to be hyperthyroid, and 1 was hypothyroid. The remaining 18 patients, who remained euthyroid throughout the study period, were investigated for evidence for antibody-mediated immunity against thyroid antigens. We measured antibody-dependent cell-mediated cytotoxicity against fresh thyroid cells using a 51chromium release assay, thyroid membrane-reactive antibodies in an enzyme-linked immunosorbent assay incorporating solubilized thyroid membranes, and TSH receptor-binding antibodies using a RRA and carried out sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and Western blotting with patient sera for antibodies reactive with 64 and 110 kDa (thyroid peroxidase) membrane proteins. Bands were demonstrated, on SDS-PAGE, at 64 or 110 kDa in 13 patients, antibody-dependent cell-mediated cytotoxicity tests were positive in 7 patients, and enzyme-linked immunosorbent assay was positive in 4 of the 17 patients tested. In addition, TSH receptor antibody tests were positive in 5 patients, none of whom had other evidence for hyperthyroidism. Finally, significant lymphocyte infiltration was demonstrated on aspiration biopsy in 3 patients. All 18 patients had positive tests in at least 1 of the immunological assays. We believe that these data support the hypothesis that endocrine ophthalmopathy always occurs in patients with overt or subclinical Graves' hyperthyroidism, Hashimoto's thyroiditis, or thyroid immunological abnormalities. Those patients previously described as having euthyroid Graves' disease should, thus, be considered to have associated thyroid immunological abnormalities even though histological confirmation (from aspiration needle biopsy) may be obtained in only a minority of the patients. The possibility that the mechanism for this close association is cross-reactivity of cytotoxic antibodies against a thyroid/eye muscle cell surface shared antigen is discussed in the context of recent evidence from the authors' laboratory.

Adult↗
PubMed2001

[Tremor and abnormal movement in multiple sclerosis: symptomatic therapeutic indications].

Tremor and movement disorders in multiple sclerosis (MS) patients cause a severe functional impairment. The different types of tremor observed in MS are: cerebellor tremor with a dominant intention component, Holmes tremor characterized by the addition of rest and postural components and palatal tremor. When no medication can improve the functional status, it is acceptable to discuss the deep brain stimulation in the VIM thalamus, thus making possible a partial attenuation of the rest and postural component, mainly affecting the proximal part of the affected limb. Among the movement disorders, paroxysmal dyskinesias are not rare and a good therapeutic response is obtained with carbamazepine: dystonia and parkinsonism are usually coincidental features during MS.

Electric Stimulation Therapy↗
PubMed2006

The role of erythrocyte aggregation in the abnormal hemorheology of multiple myeloma patients.

OBJECTIVES: The aim of this study is to clarify whether increased aggregation of red blood cells (RBCs) of multiple myeloma (MM) patients is caused by changes in plasma chemical composition or is associated with alterations in RBC properties and in addition, to suggest an approach to revert the enhanced aggregation in MM toward normal. MATERIALS AND METHODS: 40 blood samples of MM patients and suspensions of control RBCs in MM plasma were examined. In addition, RBC aggregation in MM blood was studied in the presence of dextrans with mean molecular weights of 9.6 and 40 kDa (D9.6 and D40). A method based on electrical and dielectric properties of cellular suspensions was used to study RBC aggregation. In this method, a lower aggregation index demonstrates a higher aggregability. RESULTS: The mean values of aggregation index for whole blood of healthy individuals, control cells in MM plasma and MM blood sample are 19.0, 7.2 and 3.2%, respectively. The kinetics of RBC aggregation slow down with the decrease in the fraction of MM plasma. No correlation was found between RBC aggregation and the immunoglobulin plasma level. Addition of D9.6 to MM blood reverts the enhanced aggregation toward normal. DISCUSSION: The findings that RBC aggregation changes in the following order: MM blood > normal RBCs in MM plasma > control blood sample, suggest that surface-active plasma molecules play a role in enhanced aggregation in MM. The surface concentration of these molecules and hence RBC aggregability is reduced in the presence of dextrans due to their competitive adsorption onto RBC membrane. Because the end-to-end distance of D40 is quite comparable with the Debye length, the effect of this particular dextran on RBC aggregation is negligible.

Aged↗
PubMed1989

[Morphofunctional evaluation of the testes in cryptorchism].

In both abdominal and inguinal cryptorchism, complex morphological changes are observed with age in the undescended testis. Significant changes in the size of the seminiferous tubules are observed morphometrically; the most informative index was the surface of the tubuli and their relative volume in the total volume of the organ. The main importance in the development of cryptorchism belongs, in the authors' view, to the hormonal disturbance of the anterior lobe of hypophysis and Leydig cells which are practically absent in the undescended tests in fetuses, newborns and children of the first year of life with multiple congenital developmental abnormalities.

Abnormalities, Multiple↗