SLEEP AND TRAUMA: AN OVERVIEW

Sleep disturbance is common after traumatic events of various types, such as combat, physical trauma, and sexual abuse, and closely intertwined with Posttraumatic Stress Disorder (PTSD), a common outcome of severe and prolonged trauma. This paper reviews the current literature on the significance and characteristics of sleep disturbance occurring in the context of trauma, examines the relationship between sleep disturbance and PTSD, identifies gaps in knowledge relative to the role of sleep disturbance in trauma and PTSD, and discusses the implications of this body of knowledge for clinical practice.     

Fulminant B viral hepatitis: role of delta agent

The prevalence of delta-markers among 71 patients with fulminant B viral hepatitis was found to be 33.8%. The majority of the patients with delta-markers showed serologic evidence of simultaneous acute delta-infection and B viral infection. Only 5 of the 24 patients with serologic markers of acute delta-infection in this fulminant group were presumably infected chronically with hepatitis B virus as shown by the absence of immunoglobulin M antibody to hepatitis B core antigen. A study of serologic markers of acute delta-infection among 118 patients with nonfulminant acute B viral hepatitis, in contrast, revealed only 4.2% incidence. This significant difference in the prevalence of simultaneous acute B and delta viral infections between the fulminant and the nonfulminant acute hepatitis groups indicates a higher morbidity rate associated with simultaneous infection. When the fulminant group was divided into acute B viral infection without delta-markers (subgroup 1), simultaneous acute B and delta-infections (subgroup 2), and chronic asymptomatic B with acute delta-infections (subgroup 3), for comparison of survival data, the mortality rate was not significantly different in the first two groups when the patients were age matched.     

Detection of chromosome abnormalities by quantitative fluorescent PCR in ectopic pregnancies

OBJECTIVE: To evaluate the potential value of quantitative fluorescent polymerase chain reaction (QF-PCR) in the detection of chromosome abnormalities in ectopic pregnancies. METHODS: Seventy chorionic villi samples of ectopic pregnancies were studied by QF-PCR. Primers for chromosomes 16, 21, X and Y in chorionic villi were evaluated. Fluorescence in situ hybridization (FISH) was performed when results of QF-PCR showed aneuploidy, in case of unexplicable QF-PCR peaks, and in 10 cases with normal QF-PCR results. RESULTS: QF-PCR produced a result for chromosomes X and Y in 66 cases (94%), for chromosome 16 in 62 cases (89%) and for chromosome 21 in 55 cases (79%). Overall, QF-PCR produced a result for the chromosomes tested in 54 ectopic pregnancy cases (77%). Fifty-two of these results were normal disomic (96%) and two were abnormal, one trisomy 16 (2%) and one triploidy (2%). In 16 cases (23%) no definite QF-PCR results could be obtained for all chromosomes, 11 due to amplification failure, and 5 due to unexplicable QF-PCR peaks. In 10 cases with normal QF-PCR results, disomy was confirmed by FISH. The trisomy 16 was also confirmed by FISH. Furthermore, a result was obtained with FISH in 5 of the cases without definite QF-PCR results. CONCLUSION: Although QF-PCR can establish the chromosomal status in ectopic pregnancies for chromosomes 16, 21, X and Y in the majority of cases, the technical failure rate is still considerable and does not improve results when compared to cytogenetic techniques.     

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to underlie FH. However, the array of mutations varies considerably in different populations. Therefore, the delineation of essentially all LDL receptor gene mutations in a population represents a prerequisite for the implementation of nation-wide genetic testing for FH. In this study, the frequency and geographical distribution of 13 known mutations were evaluated in a cohort of 1223 FH patients. We identified 358 mutation carriers, representing 29% of the FH cohort. Four mutations (N543H-2393de19, 1359--1G-->A, 313 + 1 G-->A and W23X) occurred with a relatively high frequency, accounting for 22.4% of the entire study cohort. Two of these common FH mutations (N543H-2393de19 and 1359 - 1G-->A) showed a preferential geographic distribution. Second, to further expand the array of LDL receptor gene mutations, we conducted mutation analysis by denaturing gradient gel electrophoresis (DGGE) in 141 children with definite FH. A mutation was identified in 111 patients, involving 16 new single base substitutions and four small deletions and insertions, which brings the number of different FH-causing mutations in our country up to 61. Our data indicate that an estimate of the prevalence of specific mutations, as well as the compilation of a database of all FH-causing mutations in a given country, can facilitate selection of the most appropriate molecular diagnostic approach.