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Biomedical subjects

M Rix

Publications and source records attributed to M Rix.

7 recordsLinked to original sources
PubMed1991

[Congenital stomatocytosis with hemolytic anemia--with abnormal cation permeability and defective membrane proteins].

A case of hereditary stomatocytosis with haemolytic anaemia in a nine year-old girl is presented. This rare syndrome is associated with increased permeability for monovalent cations across the erythrocyte membrane leading to high intracellular sodium (72 mmol/l erythrocytes) and low potassium (32 mmol/l erythrocytes) accompanied by an increased water content. In our patient the passive Na+ and K+ flux were increased to approximately 20 times normal with a compensatory maximal activation of the normal Na, K transport. The cation permeability defect was partly corrected in vitro by a bifunctional imidoester, dimethyl suberimidate. Electrophoresis of solubilizer membrane proteins revealed changes in the protein band pattern with reduction of band 7, as reported previously, and increase in the band 4.1a/4.1b ratio and increased band 4.8.

Anemia, Hemolytic, Congenital↗
PubMed1990

[Salmonella typhimurium meningitis during the neonatal period].

Salmonella meningitis is rare. A case of Salmonella typhimurium meningitis in an infant aged eight days is presented. The infant was probably infected during delivery. The infant survived with severe neurological sequelae. Recurrence of excretion of Salmonella typhimurium in the faeces occurred after withdrawal of antibiotic therapy and, after nine months, Salmonella typhimurium was still excreted in the faeces.

Humans↗
PubMed1990

[Insuject-X for children. A clinical trial of the NPH insulin pen].

The use of Insuject-X for NPH insulin was tested by 21 children, age less than or equal to 10 years with insulin dependent diabetes mellitus less than or equal to 1 year, on conventional treatment with NPH insulin once or twice daily. After a preliminary period of one month the syringe injection regimen was changed to injections by Insuject-X for a four-month "pen" period. We observed no significant changes in metabolic control. The mean potency of NPH insulin in partly used cartridges was 103.6 +/- 5.6 IU/ml (range 91.0-118.1, n = 39) with no correlation to the residual volume or days of use. Measurements over 110 IU/ml were seen at the end of the study indicating the need of repeated instruction in use of the pen by children. No microbial contamination of the cartridges, nor any local reactions at injection sites were found. We observed more technical problems than in adult studies indicating that children handle the pen more roughly. The accept of Insuject-X was good as a more convenient means of injecting. All of the children preferred to continue using it.

Adolescent↗
PubMed1985

Inherited tandem duplication dup(X) (q131-q212) in a male proband.

A tandem duplication dup(X) (q131-q212) has been diagnosed neonatally because of the peculiar appearance. Family investigation demonstrated that the duplication has segregated through phenotypically normal female carriers for at least three generations. Inactivation studies showed that the aberrant X was preferentially late replicating. The difficulties related to prenatal diagnosis of minor X chromosome aberrations in males are discussed.

Abnormalities, Multiple↗