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Biomedical subjects

R Albrecht

Publications and source records attributed to R Albrecht.

155 records · Page 9Linked to original sources
PubMedDate not supplied

Gene for non-specific X-linked mental retardation maps in the pericentromeric region.

Linkage analysis was carried out in a large four-generation German family segregating for non-specific X-linked mental retardation. Affected males have moderate intellectual handicap. Speech delay, deviant behaviour, and hyperactivity have also been reported. Head circumference and testicular volumes are normal. Cytogenetic analysis failed to show evidence for fragile site or structural abnormality of the X chromosome. None of the obligatory carriers shows any clinical symptoms. Close linkage without recombination (lod scores 1.74 to 2.05) has been found between the disease locus (MRX1) and the polymorphic DNA loci DXS7 (Xp11.4-p11.3), MAOA (Xp11.3-p11.23), DXS255 (Xp11.22), and DXS159 (Xq12) suggesting that the gene responsible for the disease in this family maps in the pericentromeric region of the X chromosome. Linkage data obtained with the flanking marker loci OTC (Xp21.1) and DXS95 (Xq21.2-q21.3) also were compatible with this localization of the MRX1 gene. Close linkage to loci from Xp22, Xq22, Xq24-25, or Xq28 could be excluded.

Adult↗
PubMedDate not supplied

[Enzyme diagnosis of human parotid glands and its problems].

The gland-specific enzymes amylase, lysozyme and kallikrein the activities and their dependence on the speed of salivation were studied in normal persons. In these investigations the specification or standard ranges for differentiated secretion states is useful. In contrast to amylase activity, the activities of lysozyme and kallikrein weaken appreciably with increasing speed of salivation. The activity secreted, as measured in time units, increases. In the case of a diseased parotis, a comparison of enzyme activities with the standard values will show a significant reduction of lysozyme and amylase activity in the chronic processes. Acute inflammation affects the amylase activity slightly, but raises the lysozyme activity significantly. Parotid mixed tumours probably do not lead to any changes in the enzyme activities. The splitting up of amylase into isoenzymes by polyacrylamide gel electrophoresis and its possible importance for the diagnosis of pathological processes are discussed. First results of the splitting up of the parotid lysozyme are reported.

Amylases↗
PubMedDate not supplied

[Endocrinologic evidence for differential diagnosis and follow-up of expanding intraseller processes].

In expectance of early chromophobic adenomata the transsphenoidal intervention revealed in 5 cases cerebrospinal fluid only, 3 times in closed cysts, 2 times with connection to the endocranial space. In one case the neuro-surgical approach revealed basal arachnoidal cysts. Endocrine studies detected no significant differences between empty sella patients and chromophobic adenomata. Compared with this in suspected acromegalia, the measurement of the different functions of the pituitary gland and especially the repeated control of somatropin proved most effective for early diagnosis, control of the operative effect and long-term success or failure.

Acromegaly↗