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Biomedical subjects

S Winkel

Publications and source records attributed to S Winkel.

6 recordsLinked to original sources
PubMed2001

Polymorphisms in the DNA repair gene XRCC1 and breast cancer.

X-ray repair cross complementing group 1 (XRCC1) encodes a protein involved in base excision repair. We examined the association of polymorphisms in XRCC1 (codon 194 Arg-->Trp and codon 399 Arg-->Gln) and breast cancer in the Carolina Breast Cancer Study, a population-based case-control study in North Carolina. No association was observed between XRCC1 codon 194 genotype and breast cancer, and odds ratios (ORs) were not modified by smoking or radiation exposure. A positive association for XRCC1 codon 399 Arg/Gln or Gln/Gln genotypes compared with Arg/Arg was found among African Americans (253 cases, 266 controls; OR = 1.7, 95% confidence interval, 1.1-2.4) but not whites (386 cases, 381 controls; OR =1.0, 95% confidence interval, 0.8-1.4). Among African-American women, ORs for the duration of smoking were elevated among women with XRCC1 codon 399 Arg/Arg genotype (trend test; P < 0.001) but not Arg/Gln or Gln/Gln (P = 0.23). There was no difference in OR for smoking according to XRCC1 codon 399 genotype in white women. ORs for occupational exposure to ionizing radiation were stronger for African-American and white women with codon 399 Arg/Arg genotype. High-dose radiation to the chest was more strongly associated with breast cancer among white women with XRCC1 codon 399 Arg/Arg genotype. Our results suggest that XRRC1 codon 399 genotype may influence breast cancer risk, perhaps by modifying the effects of environmental exposures. However, interpretation of our results is limited by incomplete knowledge regarding the biological function of XRCC1 alleles.

Adult↗
PubMed1999

Circulating semicarbazide-sensitive amine oxidase is raised both in type I (insulin-dependent), in type II (non-insulin-dependent) diabetes mellitus and even in childhood type I diabetes at first clinical diagnosis.

Plasma semicarbazide-sensitive amine oxidase is raised in patients with Type I (insulin-dependent) diabetes mellitus. It has been suggested that this enzyme is involved in the development of microvascular damage through its ability to convert amines (e.g. methylamine and aminoacetone) into aldehydes, hydrogen peroxide and ammonia. Plasma semicarbazide-sensitive amine oxidase was found to be equally raised both in patients with Type I diabetes (n = 73) and Type II (non-insulin-dependent) diabetes mellitus (n = 88) compared with control subjects (621 +/- 209 and 619 +/- 202 vs 352 +/- 102 mU/l, p < 0.0001) and to correlate in multiple regression analysis with HbA1c. Since the enzyme could protect the islets from the inhibitory effects of methylamine on insulin secretion, we also tested sera of 100 children, collected consecutively at first diagnosis of Type I diabetes, for semicarbazide-sensitive amine oxidase. The activity was greatly increased compared with serum values of 76 control (siblings) children (757 +/- 300 vs 455 +/- 138 mU/l, p < 0.0001), but not associated with HbA1c. Our study confirms the increase of plasma semicarbazide-sensitive amine oxidase in Type I diabetes and extends this finding to Type II diabetes as well as to childhood Type I at first clinical diagnosis. In the last case increased enzyme activities could serve to protect the islets from inhibitory effects of methylamine but cause damage by generation of hydrogen peroxide, aldehydes and ammonia. In the long run the increased enzyme activities could also contribute to vascular damage by direct cytotoxic action on endothelial cells, including increased oxidative stress and glycosylation of proteins.

Adolescent↗
PubMed1986

[Not Available].

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Germany↗
PubMed1978

Possible effects of kanamycin and incubation in newborn children with low birth weight.

In an acoustico-vestibular follow-up investigation of 91 four- to six-year-old children with birth weight below 2000 g, the same incidence of sensorineural hearing loss (19%) was found in 54 children treated with kanamycin in the neonatal period as in a group of 37 infants not treated with kanamycin. When comparing a group of children treated with both kanamycin and incubator (54 children) with a group treated with incubator only (16 children), no definite signs of synergism between incubator noise and kanamycin were found. However, the 5 cases of moderate or severe hearing loss all belonged to the group treated with both incubator and kanamycin. These 5 children had more severe neonatal complications, especially apnea, cyanotic spells and hyperbilirubinemia, which may increase the severity of the hearing loss. Among 56 incubator treated children with normal hearing (ISO standards) 52% had an audiogram pattern suggesting minor noise-provoked cochlear lesions. Among 18 non-incubator treated children with normal hearing only one child (6%) had a similar pattern. It should be stressed, however, that these children had no clinical symptoms of hearing loss.

Audiometry↗
PubMed1976

A follow-up study of infants who received intra-uterine transfusions because of severe rhesus haemolytic disease.

The developmental characteristics of infants surviving the neonatal period after the performance of prenatal intra-uterine transfusions because of severe rhesus haemolytic disease were studied in 17 of 19 children, using the revised Denver Developmental Screening Test and a physical-neurological examination. The children ranged in age from 5 to 91 months. Two cases are reported as having retared psychomotor development. No cases of cerebral palsy were found. Among the minor abnormalities were squints, abdominal hernia and enamel defects. The results justify the use of intra-uterine transfusions in appropriately selected fetuses when combined with treatment of hyperbilirubinaemia and respiratory distress during the neonatal period.

Auditory Perception↗