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Results for “ABNORMALITIES”

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At least 253 records · Page 14Linked to original sources
PubMed1998

Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.

Monozygotic male twins and an unrelated boy are described who have an unusual association of malformations, i.e. craniosynostosis of the sagittal suture, a cardiac malformation, urogenital anomalies, intestinal malformations and a single umbilical artery. The twins are discordant for these features, except for Hirschsprung disease. No similar cases could be traced in literature. The possible genetic background is discussed.

Abnormalities, Multiple↗
PubMed2002

Effect of trichostatin A on human T cells resembles signaling abnormalities in T cells of patients with systemic lupus erythematosus: a new mechanism for TCR zeta chain deficiency and abnormal signaling.

Trichostatin A (TSA) is a potent reversible inhibitor of histone deacetylase, and it has been reported to have variable effects on the expression of a number of genes. In this report, we show that TSA suppresses the expression of the T cell receptor zeta chain gene, whereas, it upregulates the expression if its homologous gene Fc(epsilon) receptor I gamma chain. These effects are associated with decreased intracytoplasmic-free calcium responses and altered tyrosine phosphorylation pattern of cytosolic proteins. Along with these effects, we report that TSA suppresses the expression of the interleukin-2 gene. The effects of TSA on human T cells are predominantly immunosuppressive and reminiscent of the signaling aberrations that have been described in patients with systemic lupus erythematosus.

Adolescent↗
PubMed1985

Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocythosis. Part 2. Abnormal degradation of membrane proteins.

Bands 2.1, 3 and 4.2 of the erythrocyte membrane proteins in chorea-acanthocytosis are self-digested faster than those in normal controls. The junction between spectrin and band 3 protein at the cytoplasmic side of the patients' erythrocyte membranes may have some conformational defects. The conformational defects of the proteins may be responsible for the low fluidity in the interior of the patients' erythrocyte membranes. These basic molecular defects may be widespread in other extraneural cell membranes as well as in neuronal cell membranes.

Blood Proteins↗
PubMed1987

Monosomy 21, partial duplication of chromosome 11, and structural abnormality of chromosome 1q21 in a case of lymphoma developing in a transplant recipient: characteristic abnormalities of secondary lymphoma?

Cytogenetic analysis by QFQ-banding of direct preparation of a testicular mass from a patient with secondary lymphoma revealed a modal chromosome number of 45,XY, including structural and numerical anomalies. The most consistent anomalies were the monosomy 21, duplication of the long arm of #11, and structural anomaly associated with chromosome #1 in band q21.

Adult↗
PubMed2005

Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.

We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. This constellation of findings has been previously described in three case reports as Heimler syndrome, first documented in 1991.

Amelogenesis Imperfecta↗
PubMed2006

Cortical surface-based analysis of 18F-FDG PET: measured metabolic abnormalities in schizophrenia are affected by cortical structural abnormalities.

The purpose of the study is to propose a new framework for surface-based statistical parametric mapping of PET images using MRI-based cortical surface analysis, including partial volume correction, intensity normalization and spatial normalization on the cortical surface. Maximum PET intensities along the path between inner and outer layer of the cortical gray matter are mapped onto the cortical surface to generate a metabolic activity surface map. For the partial volume correction, the metabolic activity surface map was divided by the partial volume effect map. The regional metabolic activity was normalized by the global activity iteratively calculated at the surface nodes, statistically independent of the group, as measured by F statistics. After surface-based spatial normalization, a statistical evaluation of both cortical thickness and cortical metabolic activity was conducted on the normalized surfaces of 16 patients with schizophrenia and 16 age- and gender-matched healthy controls. The patients with schizophrenia were found to have significant cortical thinning in the temporal and inferior frontal cortices. Accordingly, their PET imaging was significantly affected by the partial volume effect, indicating that partial volume correction could change the statistical results. After correction of the partial volume effects, the patients showed hyperactivity in the temporal cortex, whereas hypoactivity in the prefrontal cortex, predominantly in the left hemisphere. Our results demonstrate that anatomical factors affect an analysis for functional data from the PET, and therefore the importance of combining anatomy and function in the analysis of imaging data for schizophrenia should be considered.

Adult↗