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Biomedical subjects

C Ruiz

Publications and source records attributed to C Ruiz.

At least 145 records · Page 8Linked to original sources
PubMed1987

A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease.

A 37-year-old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a "new" syndrome probably due to an autosomal dominant gene.

Abnormalities, Multiple↗
PubMed1986

De novo del(6)(q25) associated with macular degeneration.

An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, which do not yet allow the delineation of a syndrome. However, bilateral macular degeneration was found in the proposita and had been observed in another similar case, so it probably represents a distinctive feature of 6q terminal monosomy. This observation also suggests the existence of a dominant macular degeneration locus within 6q25----qter.

Abnormalities, Multiple↗
PubMed1986

On a prezygotic origin of normal/balanced translocation mosaics.

Based on a theoretical model for the production of some structural mosaicisms, the authors propose a mechanism for the origin of normal/balanced translocation mosaics. Single strand breaks and nonhomologous hemichromatid joining are implicated and, when applied to homologous chromosomes, could explain some instances of nondisjunction independent of centromere function.

Humans↗
PubMed1985

Immunomodulation by myxospores of Myxococcus xanthus.

Glycerol-induced myxospores of Myxococcus xanthus caused non-specific modulation of humoral and cellular immune responses in laboratory animals. The number of cells which formed specific haemolysins in spleens of mice immunized with sheep erythrocytes was increased when 0.5 X 10(8) myxospores were inoculated 2 d after the erythrocytes, and decreased when myxospores were injected 2 d before or at the same time as the erythrocytes. Both the IgG primary response and the secondary response to erythrocytes were decreased in rabbits after pretreatment with 2 X 10(8) myxospores per rabbit. Delayed-type hypersensitivity to sheep erythrocytes was also suppressed in mice after intraperitoneal (i.p.) injection of 0.3 X 10(8) myxospores. One day after i.p. injection of myxospores, neither an inflammatory response nor bone marrow cell depletion was observed in mice. These results support the idea that M. xanthus myxospores possess diverse immunomodulation properties apparently due to factors different from the classical LPS of Gram-negative bacteria.

Animals↗
PubMed1985

Immunomodulation in mice by experimental infection with Yersinia enterocolitica.

Intraperitoneal infection of mice with two strains of Yersinia enterocolitica resulted in an inflammatory response and immunomodulation which appeared to be related to the invasive properties of the bacteria. The primary antibody response to sheep erythrocytes was enhanced by noninvasive cultures of Y. enterocolitica (serotype O:4-33 grown at 22 C and at 37 C, and serotype O:3 grown at 37 C), when given at the same time or two days after the antigen (invasiveness was tested on HeLa cells). In contrast, invasive cultures of serotype O:3 grown at 22 C, injected three days before the antigen suppressed the antibody response; enhancement was caused by these cultures only when given on the day of immunization. Delayed-type hypersensitivity to sheep erythrocytes was also suppressed by invasive cultures of Y. enterocolitica. These data indicate that the temperature of growth as well as some serotype-linked factors play a role in immunomodulation by Y. enterocolitica.

Animals↗
PubMed1985

Constitutional mosaic t(2;7)(q33;p22) and other rearrangements in a girl with Wilms' tumor.

A 2-year-old girl with sporadic unilateral Wilms' tumor (WT) not associated with aniridia was found to have, besides other chromosome abnormalities, a t(2;7)(q33;p22) in 6% of her lymphocytes. A comparison with 7 previous WT cases without aniridia in whom diverse chromosomal aberrations were present, reveals a wide heterogeneity and lead us to tentatively classify such changes as causal, secondary, and casual.

Child, Preschool↗
PubMed1985

The prezygotic origin of structural mosaicisms.

A theoretical model to explain the occurrence of some structural mosaicisms is proposed. It is based on a prezygotic (meiotic) half chromatid mutation leading, after the first post-zygotic DNA replication, to a structural mosaic.

Animals↗
PubMed1985

On atavisms and atavistic genes.

The authors propose the term atavistic to designate a gene producing an ancestral phenotype (atavism). Several examples are presented, and the possible origin of atavistic genes, as well as their pathological implications discussed.

Animals↗
PubMed1985

46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.

A female infant with partial trisomy 3p and a terminal deletion 12p, due to a paternal (3;12)(p25.1;p13.31) translocation is described. Normal glyceraldehyde-3-phosphate (GAPD) activity in the proposita tentatively excludes GAPD locus from the deleted segment. Therefore, the region for this locus is reduced to 12p13.1----p13.31.

Abnormalities, Multiple↗
PubMed1985

Trisomy 7p due to a mosaic normal/dir dup(7)(p13----p22). Syndrome delineation, critical segment assignment, and a comment on duplications.

A 4 4/12 year-old girl with a peculiar phenotype due to a 46,XX/46,XX, dir dup(7)(p1300----p2200) karyotype is described. The comparison with about ten similar cases permitted a better delineation of the 7p trisomy syndrome and the assignment of the band 7p21 as the critical one. Mechanisms for the origin of homogeneous and mosaic duplications, including one model based on a meiotic half chromatid duplication, are discussed.

Abnormalities, Multiple↗
PubMed1983

Action of histamine and 3-isobutyl-1-methylxanthine on cAMP activation of protein kinase in dog gastric mucosa.

Dog gastric mucosa was incubated with histamine, IMX and db-cAMP, and the tissue was analyzed for cAMP content and cAMP-dependent protein kinase activity. Results show that in the absence of IMX, histamine does not produce measurable changes in either cAMP content or protein kinase activity ratios. In the presence of 5 X 10(-5) mol/l IMX histamine elicits a dose-dependent accumulation of cAMP, and this accumulation is reflected in elevated protein kinase activity ratios. When IMX concentration is increased to 5 X 10(-4) mol/l, the histamine effect is more pronounced. Incubation of gastric mucosa with 10(-6) mol/l db-cAMP results in elevated cAMP tissue levels both in the absence and presence of IMX, but protein kinase activity ratio is significantly elevated only in the presence of 5 X 10(-4) mol/l IMX. It is concluded that histamine stimulates cAMP formation and protein kinase activation in dog gastric mucosa, but elevations are detectable only when the phosphodiesterase enzyme is inhibited.

1-Methyl-3-isobutylxanthine↗
PubMed1983

Comparison of cAMP system in parietal cells from rat and guinea pig.

Adenylyl cyclase activity, cAMP content, and activation of cAMP-dependent protein kinase were measured in rat and guinea pig parietal cells isolated by the same procedure. Incubation of parietal cells with histamine resulted in aminopyrine uptake, stimulation of adenylyl cyclase activity, accumulation of intracellular cAMP, and activation of cAMP-dependent protein kinase. In addition, aminopyrine uptake and the cAMP system were stimulated in rat cells by epinephrine, whereas guinea pig cells were unresponsive to epinephrine. It is suggested that there may be differences between the two species with regard to receptors on the parietal cells.

Animals↗
PubMed1983

[Pi phenotypes of alpha-1-antitrypsin and antiproteases in meningococcal sepsis].

Values of mean antiproteases were studied in 60 children with meningococcal sepsis. At illness onset, increased levels of alpha-1 antiquimotrypsin (p less than 0.001) and decreased of alpha-2 macroglobulin (p less than 0.001) were found. Moreover, patients who were complicated with a disseminated intravascular coagulation (DIC) also showed a decrease of antithrombin III (p less than 0.001) and inter alpha-1 trypsin inhibitor (p less than 0.001). There was not relationship between antiproteases levels and mortality. In 33 cases the measures were repeated 24 hours later, but no homogeneous results were found, in spite of alpha-2 macroglobulin fall in patients complicated with DIC (p less than 0.05). Phenotypic variants of alpha-1 antitrypsin were studied in 47 cases by isoelectric focusing. Results did not provide evidence that "abnormal phenotypes" (no-Pi MM) could facilitate meningococcal sepsis or DIC, but an increased number of "abnormal phenotypes" (5/9) were found in dead patients (p less than 0.025).

Antithrombin III↗