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Biomedical subjects

B de Vries

Publications and source records attributed to B de Vries.

28 records · Page 2Linked to original sources

The long-term effects of later life spousal and parental bereavement on personal functioning.

Using data from Americans' Changing Lives: Wave 1, 1986, this study examined the long-term effects on the personal functioning of older women and men following the death of an adult child or a spouse. Guided by Weiss's (1993) theoretical framework, 41 bereaved parents and 143 bereaved spouses were compared to 407 nonbereaved adults on measures of perceived health, self-efficacy, depression, life satisfaction, and future orientation. Analyses revealed bereavement and gender effects and a consistent influence of the sociodemographic characteristics of education, income, and duration of bereavement on functioning.

Adaptation, Psychological↗

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant syndrome of congenital external ophthalmoplegia and bilateral ptosis. We previously reported linkage of this disorder in two unrelated families to an 8-cM region near the centromere of human chromosome 12. We now present refinement of linkage in the original two families, linkage analysis of five additional families, and a physical map of the critical region for the CFEOM gene. In each of the seven families the disease gene is linked to the pericentromeric region of chromosome 12. D12S345, D12S59, D12S331, and D12S1048 do not recombine with the disease gene and have combined lod scores of 35.7, 35.6, 16.0, and 31.4, respectively. AFM136xf6 and AFMb320wd9 flank the CFEOM locus, defining a critical region of 3 cM spanning the centromere of chromosome 12. These data support the concept that this may be a genetically homogeneous disorder. We also describe the generation of a YAC contig encompassing the critical region of the CFEOM locus. This interval has been assigned cytogenetically to 12p11.2-q12 and spans the centromere of chromosome 12. These results provide the basis for further molecular analyses of the structure and organization of the CFEOM locus and will help in the identification of candidate genes.

Chromosome Mapping↗

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

Chromosomes, Human, Pair 11↗

The understanding of death and dying in a life-span perspective.

Fifty-four men and women from across the adult life span wrote two-page essays about death and dying. Content coding assessed the extent to which essays were concerned with death or dying (i.e., as a subject of discussion) and self, others, or more abstract conceptions (i.e., referent), as well as levels of impact, involvement, and acceptance. Structural analysis revealed that for both genders discussions of death were both more frequent and more complex than were discussions of dying, and individuals referred to others more often and in more simplistic terms than to self. The middle-aged writers placed greater emphasis on dying. All discussions were characterized by high impact and involvement and low levels of acceptance.

Adaptation, Psychological↗

Hereditary congenital external ophthalmoplegia.

Several members of a large pedigree suffering from hereditary congenital external ophthalmoplegia, an autosomal hereditary disorder of ocular movements, were examined and surgically treated. From nystagmographic findings it was concluded that the main cause of this disorder is of supranuclear origin. Specimen of the inferior oblique muscle revealed no abnormalities or showed decrease of type I muscle fibers.

Adult↗

Squint in monozygotic twins.

In a group of monozygotic twins, in which at least one of the pair squinted, strabismus was observed in both twins in only about half of the cases. Within the concordant group there was variation in the way in which the anomaly became manifest.

Adolescent↗

Pathological-optic approach of cataract and lens.

By weighing cataractous lenses and by scanning lenses of patients with acute diabetes with an ultrasonic A scan, it is made probable that hypermetropization in those cases is to be atributed to alterations of the refractive index of the lens.

Acute Disease↗

Liver fatty acid-binding protein: an early and sensitive plasma marker of hepatocellular damage and a reliable predictor of graft viability after liver transplantation from non-heart-beating donors.

OBJECTIVE: Liver fatty acid-binding protein (L-FABP) is a small protein (15 kD) involved in the intracellular transport of long-chain fatty acids in the liver. The L-FABP is regarded as a sensitive marker for liver cell damage. In a pig model for liver transplantation (LTx) from non-heart-beating donors (NHBD), we evaluated plasma changes of L-FABP early after reperfusion of grafts exposed to increasing periods of warm ischemia (WI). METHODS: Porcine livers were procured after 0, 15, 30, 45, and 60 minutes' WI. After 4 hours' cold ischemia (CI), LTx was performed. Primary graft nonfunction (PNF) and day 4 survival were recorded. Plasma samples were collected prior to and 15, 60, and 180 minutes after graft reperfusion for determination of L-FABP and aspartate transaminase (AST). RESULTS: Early after reperfusion, levels of L-FABP correlated well with the duration of WI. The PNF developed in 100% of animals after 60 minutes of WI, 50% after 30, and 45 minutes' WI, and was absent after no WI and 15 minutes of WI. Day 4 survival was 100% in 0 minutes' WI, 83% in 15 minutes' WI, 50% in 30 and 45 minutes' WI, and 0% in 60 minutes of WI. CONCLUSIONS: Plasma levels of L-FABP correlated well with WI and concomitant hepatocellular damage in LTx from NHBD. Monitoring of posttransplant L-FABP plasma levels is a valuable new tool to quantify early the extent of parenchymal cell damage of NHBD livers and to predict their viability and function.

Animals↗