http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1096-8628(19980106)75:13.0.CO;2-P/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+on+7+July+from+10%3A00-12%3A00+BST+%2805%3A00-07%3A00+EDT%29

Bakker, E

Brocker-Vriends, A

Cornelisse, CJ

Devilee, P

DudokdeWit, AC

Duivenvoorden, HJ

Frets, PG

Helderman, ATJM

Hilhorst-Hofstee, Y

Kant, S

Klijn, JGM

Lindhout, D

Lodder, LN

Losekoot, M

Maat-Kievit, JA

Meijers-Heijboer, EJ

Niermeijer, MF

Oosterwijk, JC

Passchier, J

Tibben, A

Tops, C

Trijsburg, RW

van der Smagt, JJ

van Haeringen, A

Vasen, HFA

Vegter-van der Vlis, M

Vries-van der Weerd, MACS

Zoeteweij, MW

Zoetewij, MW

In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being, The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence, Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes, Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance, However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance, This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications, It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance, However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program, (C) 1998 Wiley-Liss, Inc

NARCIS 

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being, The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence, Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes, Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance, However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance, This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications, It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance, However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program, (C) 1998 Wiley-Liss, Inc.</p

Proceedings - University of Groningen

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders:Comparing questionnaire results with in-depth interviews

ARTS repository - University of Groningen

Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in 1 case associated with mental retardation and mild cerebellar hypoplasia. Results of serum lipid analysis of all patients were normal. Ultrastructural study of a skin biopsy specimen and fibroblast pellet showed membrane-bound spherical vacuoles containing lipid material. Cultured fibroblasts stained by filipin, a fluorescent probe that specifically binds unesterified cholesterol, showed abnormal cytoplasmic fluorescent material, suggesting abnormal cholesterol metabolism. The presence of neurological impairment, associated with SCCD in 1 of our cases, may be regarded as coincidental. Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea and that skin biopsy may be a useful method to confirm the diagnosis

Battisti, C

Dotti, MT

Malandrini, A

Pezzella, Francesco

Bardelli, AM

Federico, A

ORA - Oxford University Research Archive

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

University of Groningen

Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies, and clinical findings that resemble those of the sibs described by Toriello et al. [1993, Am J Med Genet 47:797-799]. The cardiac defects and CNS abnormalities reported are unique in the context of CDP and may serve to expand the phenotypic spectrum of the unique form of CDP described by Toriello et al. [1993].3 page(s

Ciske, David J

Waggoner, Darrel J

Dowton, S. Bruce

Macquarie University ResearchOnline

American Journal of Medical Genetics Part A

Unique cardiac and cerebral anomalies with chondrodysplasia punctata

Oxford University Research Archive

University of Groningen Research Database

We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium particularly superior to the arcade, and selective discoloration (brown) of molars or canine deciduous teeth that follows an apparent autosomal recessive inheritance pattern. This appears to be a new syndrome that can be distinguished from the known otodental, oculo-acoustic and flecked retina syndromes by the occurrence of distinct dental and ocular abnormalities. Am. J. Med. Genet. 75:13–17, 1998. © 1998 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/34648/1/4_ftp.pd

Innis, Jeffrey W.

Sieving, Paul A.

McMillan, Pamella

Weatherly, Robert A.

Deep Blue Documents at the University of Michigan

American Journal of Medical Genetics

Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth