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Biomedical subjects

S Soukup

Publications and source records attributed to S Soukup.

At least 37 records · Page 2Linked to original sources
PubMed1989

Fragile X syndrome: recognition in young children.

In recent years, a number of articles have appeared in the literature concerning the fragile X syndrome; however, in few cases was the diagnosis of the syndrome in young children discussed. A review of 20 children younger than 7 1/2 years of age who had the fragile X syndrome seen at the Cincinnati Center of Developmental Disorders was undertaken in an attempt to establish guidelines that would aid the practicing physician in determining which children should have a chromosomal analysis. All children were developmentally delayed; 95% had speech delays. Short attention span with hyperactivity, temper tantrums, mouthing of objects persisting at an age beyond when it would be expected, autistic behaviors, and poor gross motor coordination were seen in 50% or more of the children. Mental retardation was present in the family history of 65%, and 90% had a family history of at least one of the following: mental retardation, learning disabilities, or hyperactivity. The most common physical findings were long and/or wide and/or protruding ears, prominent jaw and/or long face, high arched palate, and a flattened nasal bridge. The fragile X syndrome can be recognized by noting key aspects of the behavioral and family histories as well as the physical findings.

Age Factors↗
PubMed1988

Chromosomal analysis of sixteen human rhabdomyosarcomas.

Chromosomal analysis of 16 rhabdomyosarcomas was done from four primary tumors and from 12 tumors after nude mouse passage. Seven tumors were alveolar; four of these had t(2;13)(q37;q14) and in two tumors it was the only structural abnormality. The other three alveolar tumors were near tetraploid with marker chromosomes and double minutes. In the nine embryonal tumors studied, one had a normal karyotype, and eight were abnormal. Although the eight tumors had no common structural abnormality, trisomy 2 was present in all.

Animals↗
PubMed1986

Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.

A pregnant woman whose previous child had a diagnosis of I-cell disease was referred for evaluation of the fetus. Fluid obtained by amniocentesis and maternal serum showed abnormally increased levels of lysosomal enzymes suggesting that the fetus had I-cell disease. Sonography at 18 weeks showed abnormally short femurs and intrauterine growth retardation. The pregnancy was electively terminated at 19 weeks' gestation and the diagnosis was confirmed. Radiographs of the fetus demonstrated that the bony dysplasia is present early in fetal life with diffuse decrease in bone mineralization, a coarse, lacy, trabecular pattern, overall shortening and under-modelling of the long bones, subperiosteal bone deficiency in the diaphysis giving the appearance of periosteal new bone, hypoplasia of the anterior superior aspect of the upper lumbar vertebral bodies, broad ribs, abnormal pelvis with squared iliac wings and flattened acetabular roofs, and a small irregular calcaneal ossification center. There was good correlation between the radiographic findings and the microscopic findings in the bones. We observed deficient endosteal bone formation, small epiphyses, and poorly developed intervertebral discs. We speculate that this indicates impaired production of extra-cellular matrix by several different types of specialized mesenchymal cells. Abnormalities of transport of glycoproteins other than lysosomal enzymes or excess of extracellular acid hydrolases may be involved in the pathogenesis.

Bone and Bones↗
PubMed1985

Immunologic, morphologic and chromosomal characterization of a cell line (TC78) established from a child with acute lymphoblastic leukemia.

We characterized a cell line established from bone marrow cells from a child with acute lymphoblastic leukemia. This cell line, TC78, had lymphoblastic morphology and was cytoplasmic peroxidase and esterase negative. The cells did not have T- or B-cell properties such as E- or EAC-rosette forming ability, reactivity with monoclonal T-cell or B2 antibodies, or immunoglobulin synthesis. We concluded that TC78 was a pre-pre B-cell line based on the following monoclonal antibody staining pattern: BA-1+, BA-2+, cALLa+, Ia+, 2H7+ and OKB2+. Growth in 'Dickie' culture and reactivity with 1G10 myeloid antibody suggested coexpression of lymphoid and myeloid characteristics. However, 1G10 expression proved dependent on culture conditions, illustrating one caveat in application of monoclonal antibodies in lineage determination.

Antigens, Neoplasm↗
PubMed1984

Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells.

Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized by deficient activity of acid alpha-glucosidase and by the presence of intracellular vacuoles full of glycogen, which are found in most tissues, including skin and liver. On electron microscopy these specific vacuoles are tightly packed accumulations of glycogen particles surrounded by a single membrane. We did electron-microscopical examinations on uncultured amniotic-fluid cells from 26 women whose fetuses were at risk for glycogen-storage disease Type IIa and from 8 normal control pregnant women. We found specific vacuoles in cells from 6 of the 26 high-risk patients. At delivery, glycogen-storage disease Type IIa was present in the infants of these 6 women and absent in those of the other 20 according to results of clinical, biochemical, and electron-microscopical studies of gestational products. After amniocentesis at 15 to 18 weeks of gestation, the prenatal diagnosis made by electron microscopy of uncultured amniotic-fluid cells was available in three to six days, whereas it took from three to six weeks to make the diagnosis by enzymatic analysis of the cultured amniotic-fluid cells. We conclude that the electron-microscopical prenatal diagnosis of glycogen-storage disease Type IIa is rapid, safe, and reliable. It should facilitate earlier diagnosis and thereby help to preserve parental options.

Amniocentesis↗
PubMed1984

Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by the deficient activity of iduronidase and by the presence of MPS vacuoles in many tissues of affected patients. We studied whether these characteristics could be used for the antenatal diagnosis of the disease. We obtained amniotic fluid cells from two pregnancies at risk for MPS I, one pregnancy at risk for GSD II (another lysosomal disease), and eight normal control pregnancies. Measurements of iduronidase activity in cultured amniotic fluid cells indicated the presence of a MPS I fetus in one high risk pregnancy and an unaffected fetus in the other. This diagnosis was confirmed at delivery. On electron microscopy the uncultured amniotic fluid cells exhibited MPS-like vacuoles in the pregnancy with a GSD II fetus, in three of eight normal pregnancies, and in the pregnancy at risk for MPS I that had a normal fetus. No such vacuoles were seen in the pregnancy with the MPS I fetus. These false positive and false negative findings indicate that antenatal diagnosis of MPS I cannot be based on the electron microscopic presence or absence of MPS I vacuoles in uncultured amniotic fluid cells.

Amniotic Fluid↗
PubMed1975

Identification of the sex chromosomes in the bald eagle.

Karyotypes of five American bald eagles (Haliaeetus leucocephalus and H. alacanus) are compared. All had 2n=66 chromosomes which fell into 3 size groups: A, 20 pairs of biarmed chromosomes; B, 9 pairs of acrocentric chromosomes and C, 4 pairs of microchromosomes. C-banding was done in two eagles and a heterochromatic W chromosome was identified in a presumptive female. The ZZ and ZW chromosomes could be identified in the karyotypes.

Animals↗