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Biomedical subjects

E M Smit

Publications and source records attributed to E M Smit.

45 records · Page 3Linked to original sources
PubMed1979

In vitro adsorption of possible aetiological factors of hepatic encephalopathy.

Four different adsorbents (activated charcoal, XAD-4, a strong base anion and a strong acid cation-exchange resin) were tested in vitro for their capacity to remove substances that may be important in the development of hepatic encephalopathy. Separate columns packed with one of these adsorbents were perfused for three hours with a reconstituted plasma solution containing simultaneously high concentrations of amino-acids, ammoniumchloride, short-chain fatty acids, octopamine and bile salts. Effective removal of all these substances was only obtained when either activated charcoal, or XAD-4, were combined with the cation-exchange resin. Possible implications for the treatment of hepatic coma are discussed.

Absorption↗
PubMed1977

Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Cytogenetic analysis of a 6-year-old girl with moderate mental retardation revealed 46 chromosomes with a tandem translocation (21;21) resulting in a partial trisomy 21. Only the terminal band 21q22 was not in triplicate. G-, Q-, R-, and C-banding techniques and silver nitrate staining of the nucleolus organizer regions (NORs) were used to identify this chromosome fully. The phenotype of the patient was not typical for Down's syndrome, providing additional evidence that trisomy of band 21q22 is pathogenetic for the phenotype of Down's syndrome. This is also a new example in human pathology of a stable 'dicentric' chromosome in which one of the centromeric constrictions appears to be nonfunctional.

Centromere↗
PubMed1977

Replication pattern of the X chromosomes in three X/autosomal translocations.

Three X/autosomal translocations, two familial and one de novo, were analyzed. Late-replicating chromosomes and chromosome regions were studied with R-banding techniques after BrdU incorporation. The first translocation, t(X;4)(q21;q13), was a de novo translocation, found in a woman with amenorrhea. The structurally normal X was late replicating in all cells. The second translocation, t(X;6)(p21;q26), was found in an unbalanced form, 46,XX,der(6), in a phenotypically abnormal girl; her mother carried the balanced translocation. In the mother's blood culture inactivation of the X's followed two modes: In 85% of the cells the normal X was late replicating, and in the remaining 15% the der(X) was inactivated, including the attached fragment of chromosome 6. The third translocation, t(X;17)(p11;q24), was found in three generations. In the phenotypically normal mother, who carried the balanced translocation, the late-replicating X was always the normal X. In her daughters, who had an unbalanced karyotype, 46,X,der(X), and multiple congenital abnormalities, the X part of the translocation chromosome was always late replicating. No spreading of inactivation over the attached autosomal region was observed, resulting for these patients in a partial trisomy of 17q. Their peculiar phenotype is described.

Abnormalities, Multiple↗
PubMedDate not supplied

Maternal stress during hospitalization of the adopted child.

PURPOSE: To identify and describe the experiences of mothers whose adopted children are hospitalized and to compare those experiences to those of mothers whose biological children are hospitalized. DESIGN: Comparative descriptive design. METHODS: Mothers of hospitalized children (n = 33 adopted; n = 19 biological) completed a slightly revised version of the Parental Stressor Scale: Pediatric Intensive Scale Unit (PSS:PICU). Adoptive mothers also completed a questionnaire related to their perceptions of the impact of their child's adoption on the hospitalization experience. RESULTS: Adoptive mothers perceived statistically significantly higher levels of stress related to their child's behavioral/emotional response to hospitalization. Children who had been with the family for less time perceived the hospitalization as more stressful. When both groups of mothers were considered, mothers of younger children perceived a higher level of stress. A majority of adoptive mothers felt the adoption had an impact on the hospitalization experience, especially related to their limited information about their child's medical history, staff lack of knowledge about legal issues, and concern about attachment to the child. CLINICAL IMPLICATIONS: Nurses need to be aware of adoptive mothers' concerns related to attachment issues, limited family medical history, and legal rights in order to provide sensitive and effective care. Inservice education programs could be designed to help teach all staff about these important issues.

Adoption↗