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Biomedical subjects

M Beck

Publications and source records attributed to M Beck.

At least 235 records · Page 13Linked to original sources
PubMed1993

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations. One, two or three base pair deletions are found in about 23% of the cases while the remaining about 57% carry point mutations predicting amino acid replacement, premature termination of translation, or aberrant splicing. Molecular analysis of mRNA in splice site mutants showed that these latter defects frequently resulted in use of cryptic splice sites in exons or introns. 62% of the small deletions and point mutations have occurred in 3 of the 9 iduronate-2-sulfatase gene exons. Knowledge of the primary genetic defect allows fast and reliable carrier detection and prenatal diagnosis as well as insight into the relationship between genotype and phenotype.

Amino Acid Sequence↗
PubMed1993

Evaluation of a clinical recovery score after general anesthesia.

A clinical recovery score (CRS) assessing recovery after general anesthesia was compared with the Digit-Symbol Substitution Test (DSST), Trieger Test (TT), a patient-completed visual analogue scale for alertness (VAS), and an independent observer's evaluation of recovery. The CRS included ratings of the following parameters: activity, respiration, circulation, consciousness, ambulation, color, and nausea and vomiting. Forty patients requiring the removal of three or four third molars participated in the study. All patients received the same general anesthetic technique. Each patient was evaluated by the five methods preoperatively, on admission to the recovery room, and at 15-min intervals until discharge. The four recovery tests (CRS, DSST, TT, VAS) were evaluated using chi 2 analysis to determine if there was any overall difference among the tests using the observer's determination of home readiness as the standard for discharge. The CRS was significantly more in agreement with the observer's determination than were the paper and pencil tests. The recovery tests were also evaluated with regard to instances of early dismissal or prolonged retention of the patient, again using the observer's determination as the "gold standard." The CRS was the only recovery test devoid of early dismissals. We conclude that the CRS provides a valid, simple measure of recovery that can be readily used in offices providing outpatient anesthesia and in studies measuring clinical recovery from anesthesia or sedation.

Ambulatory Surgical Procedures↗
PubMed1993

[Osteopathy].

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Cerebrospinal Fluid Pressure↗
PubMed1992

Painful remedies.

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Cost Control↗
PubMed1992

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

Hunter syndrome is an X-linked mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in the patient's family, our data suggest that the deletion occurred in the germ cells of the patient's grandfather.

Blotting, Southern↗
PubMed1992

Influence of retinol on human chondrocytes in agarose culture.

Vitamin A and its congeners, collectively called retinoids, are known to have teratogenic potential and have induced craniofacial and limb malformations in numerous animal species. More importantly, retinoids are recognized as teratogenic to fetuses of pregnant women who have taken such preparations for dermatologic disorders. Information gathered from the study of animal models suggests that retinoids interfere with cartilage differentiation. If chondrogenesis in limb development is disturbed it may contribute to limb reductions and malformations. In vitro studies using various animal systems have shown that cartilage matrix macromolecules are altered to resemble those secreted by mesenchymal cells. The response of human chondrocytes to retinoids in vitro is not known. Culture of human chondrocytes in agarose maintains the cartilage phenotype and therefore serves as a model system to evaluate the influence of retinoids directly on human chondrogenesis. The studies presented in this paper were done to determine if the expression of specific matrix macromolecules of human chondrocytes in agarose culture is altered by retinol treatment. Immunocytochemistry demonstrated enhanced labeling of type I collagen while type II collagen labeling was reduced in cultures treated with retinol. In addition, morphometric analyses indicated a decrease in the size and number of chondrogenic clusters and that individual cells synthesized less alcian blue matrix when compared to parallel control cultures. The size of the proteoglycan monomers, glycosaminoglycan side chains as well as the disaccharide composition were not affected. However, there was a reduction in the quantity of proteoglycan monomers produced.

Cartilage↗
PubMed1992

Fetal presentation of Morquio disease type A.

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.

Amniocentesis↗