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Case Samples (case + sample)
Selected AbstractsPlanned and Unplanned Complex Suicides: A 5-year Retrospective StudyJOURNAL OF FORENSIC SCIENCES, Issue 2 2007Stéphanie Racette B.Sc. ABSTRACT: The notion of planned and unplanned complex suicides first appeared in 1974 by Marcinkowski and, since then, no systematic study of complex suicides has been published in the English forensic literature. Here, the authors present a 5-year retrospective study of complex suicides. Nineteen complex suicides were reviewed: five unplanned and 14 planned, including the first case of an unplanned complex suicide in a woman. All cases were analyzed in terms of gender, age, methods of suicide, the presence of a suicide note, and past suicide attempts, and statistically compared with a 50-case sample of simple suicides. A further comparison was established with compiled data from the literature. Similarities were revealed regarding incidence of complex suicides, male gender predominance, and types of methods used. In contrast, results showed a higher average age for planned complex suicide victims. Finally, the authors discuss the application of the complex suicide definition. [source] Temporal arteritis and Chlamydia pneumoniae: Failure to detect the organism by polymerase chain reaction in ninety cases and ninety controlsARTHRITIS & RHEUMATISM, Issue 4 2002Michael J. Regan Objective To examine the reported correlation between the presence of Chlamydia pneumoniae in temporal artery biopsy specimens and the diagnosis of temporal arteritis (TA). Methods Among 90 possible cases of TA identified at our institution between 1968 and 2000, 79 of the positive biopsy specimens (88%) demonstrated giant cells and the other 11 cases (12%) had other histopathologic features compatible with TA; by chart review, all 90 patients were confirmed to have met the American College of Rheumatology classification criteria for TA. Controls had negative temporal artery biopsy specimens during the same 32-year time period and their postbiopsy disease courses were not compatible with TA. Controls were matched with each case by sex, year of biopsy, and age within 10 years. The biopsy specimens from all cases and controls were reevaluated and readings were confirmed in a masked manner by an experienced eye pathologist. Polymerase chain reaction (PCR) analyses for C pneumoniae were performed on the 180 samples using 2 different sets of PCR primers (which target 2 different genes). A primer set targeting the ompA gene (CP1-CP2/CPC-CPD) was used to perform a nested PCR, followed by confirmation of the findings with primers targeting the 16S ribosomal RNA (rRNA) gene (Cpn90/Cpn91) in a touchdown-enzyme time-release PCR. We used positive and negative controls, as well as controls made from infected and noninfected HEp-2 cells, suspended in a formalin-fixed, paraffin-embedded matrix. Results Seventy-six percent of the 180 cases and controls were women. The mean age of the cases was 72.0 years (range 53,90), and that of the controls was 70.4 years (range 51,86). Eighty percent of the control samples were obtained by temporal artery biopsy performed within 1 year of the biopsies performed on the matched cases. Using the CP1-CP2/CPC-CPD primer set, only 1 TA case sample (1% of all case samples) was positive for the ompA gene. One control sample was also positive using these primers. With the Cpn90/Cpn91 primers, none of the cases and none of the controls were positive for the 16S rRNA gene. Conclusion The results of this study using sensitive and specific PCR analyses do not support a role for C pneumoniae in the pathogenesis of TA. [source] Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samplesDIABETIC MEDICINE, Issue 12 2005E. Zeggini Abstract Aims The Pro12Ala polymorphism in the PPARG gene alters amino acid sequence and has shown consistent association with susceptibility to Type 2 diabetes in several populations. The present study makes use of large, well-characterized case-control resources to enhance understanding of this susceptibility effect by examining related traits, such as body mass index (BMI), waist,hip ratio and age at diagnosis. Methods The Pro12Ala variant was genotyped in two UK case samples, ascertained for positive family history and/or early onset of Type 2 diabetes (combined n = 971); and in 1257 ethnically matched control subjects. Results There were significant associations of the Pro12Ala single nucleotide polymorphism (SNP) genotypes with diabetes in both case-control comparisons (P = 0.025 and P = 0.039). Comparing individuals homozygous for the Pro allele, with those carrying an Ala allele, the combined odds ratio for diabetes was 1.40 (95% CIs, 1.12,1.76, P = 0.0031). There was no association between the variant and either waist,hip ratio or age at diagnosis. Proline homozygosity was associated with increased BMI in one patient group (P = 0.013) and decreased BMI in the other (P = 0.038). Conclusions This study confirms that variation within PPARG influences susceptibility to Type 2 diabetes in UK samples. However, the relationship between PPARG variation and BMI is more complex, and studies in much larger sample sets will be required to more precisely characterize the effect of this variant on adiposity. [source] Early diagnosis of dementia in primary care: a representative eight-year follow-up study in Lower Saxony, GermanyINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 1 2007Lienhard Maeck Abstract Objective To investigate whether primary care competency in early diagnosis of dementia might have changed during 1993 and 2001. Method By means of a representative follow-up survey 122 out of 170 (71.8%) family physicians (FPs) in Lower Saxony, Germany, were randomly assigned to two written case samples presenting a patient with mild cognitive impairment (case 1a vs. 1b: female vs. male patient) and moderate dementia (case 2a vs 2b: vascular type (VD) vs Alzheimer's disease (DAT)), respectively. By means of a structured face-to-face interview, they were asked for their diagnostic considerations. Results In comparison to 1993, dementia was significantly more frequently considered. However, there was a striking tendency in overestimating vascular aetiology and under-diagnosing probable DAT (case 1a/1b: DAT: 11.0% in 1993 vs 26.2% in 2001; VD: 2.1% in 1993 vs 17.2% in 2001). As a possible contributor to a dementia syndrome, concomitant medication was considered only exceptionally (case 2a/2b: 4.4% in 1993 vs 2.5% in 2001). Physicians above 50 years of age showed a significantly lower early diagnostic awareness. At follow-up, the presumed interest in geriatric (psychiatric) topics dramatically faded from 66.9% to 35.2%. Conclusions Our results demonstrate a persistent need of training efforts aiming at the early recognition of dementia, especially of DAT, in primary care. Copyright © 2006 John Wiley & Sons, Ltd. [source] Internal Validation of the AmpFlSTR YfilerÔ Amplification Kit for Use in Forensic CaseworkJOURNAL OF FORENSIC SCIENCES, Issue 1 2008Ann Marie Gross M.S. Abstract:, Y-chromosomal short-tandem repeat (Y-STR) amplification has been used in forensic casework at the Bureau of Criminal Apprehension (BCA) Forensic Science Laboratory since 2003. At that time, two separate amplifications were required to type the SWGDAM recommended loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439). The YfilerÔ kit coamplifies these loci as well as DYS437, DYS448, DYS456, DYS458, DYS635, and Y GATA H4. The YfilerÔ kit was validated following the internal validations outlined in the SWGDAM revised validation guidelines. Our studies show that 0.125 ng of male DNA will generate a complete 17 locus profile and that as little as 0.06 ng of male DNA yields an average of nine loci. In the male,male mixtures, a complete profile from the minor component was detected up to 1:5 ratio; most of the alleles of the minor component were detected at a 1:10 ratio and more than half the alleles of the minor component were detected at a 1:20 ratio. Complete YSTR profiles were obtained when 500 pg male DNA was mixed with female DNA at ratios up to 1:1000. At ratios of 1:5000 and 1:10,000 (male DNA to female DNA) inhibition of the YSTR amplification was evident. The YSTR results obtained for the adjudicated case samples gave significantly more probative information than the autosomal results. Our studies demonstrate that the YfilerÔ kit is extremely sensitive, does not exhibit cross-reactivity with female DNA, successfully types male DNA in the presence of overwhelming amounts of female DNA and is successful in typing actual forensic samples from adjudicated cases. [source] Jaw tremor: Prevalence and clinical correlates in three essential tremor case samplesMOVEMENT DISORDERS, Issue 11 2006Elan D. Louis MS Abstract The spectrum of involuntary movements seen in essential tremor (ET) is limited. Jaw tremor is one such movement. The prevalence and clinical correlates of jaw tremor have not been studied in detail. The objective of this study was to estimate the prevalence and examine the clinical correlates of jaw tremor in ET using ET cases from three distinct settings (population, tertiary-referral center, brain repository). All ET cases underwent a videotaped tremor examination in which tremors (including limb, head, voice, and jaw) were assessed. The prevalence [95% confidence interval (CI)] of jaw tremor was lowest in the population sample (7.5%; 3.9%,14.2%), intermediate in the tertiary-referral center (10.1%; 6.8%,14.7%), and highest in the brain repository (18.0%; 12.3%,25.5%; P = 0.03). Jaw tremor was associated with older age (P < 0.001), more severe action tremor of the arms (P < 0.001), and presence of head and voice tremor (P < 0.001). Jaw tremor was present in 4/14 (28.6%) ET cases with consistent rest tremor vs. 15/193 (7.8%) cases without rest tremor (odds ratio = 4.8; 95% CI = 1.3,7.0; P = 0.009). The prevalence of jaw tremor was 7.5% to 18.0% and was dependent on the mode of ascertainment, being least prevalent in a population-based sample. ET cases with jaw tremor had a more clinically severe and more topographically widespread disorder. The association in our study between jaw tremor and rest tremor, along with the published observation that jaw tremor can occur in Parkinson's disease (PD), raises the question whether jaw tremor in ET is a marker for subsequent conversion to PD. © 2006 Movement Disorder Society [source] Temporal arteritis and Chlamydia pneumoniae: Failure to detect the organism by polymerase chain reaction in ninety cases and ninety controlsARTHRITIS & RHEUMATISM, Issue 4 2002Michael J. Regan Objective To examine the reported correlation between the presence of Chlamydia pneumoniae in temporal artery biopsy specimens and the diagnosis of temporal arteritis (TA). Methods Among 90 possible cases of TA identified at our institution between 1968 and 2000, 79 of the positive biopsy specimens (88%) demonstrated giant cells and the other 11 cases (12%) had other histopathologic features compatible with TA; by chart review, all 90 patients were confirmed to have met the American College of Rheumatology classification criteria for TA. Controls had negative temporal artery biopsy specimens during the same 32-year time period and their postbiopsy disease courses were not compatible with TA. Controls were matched with each case by sex, year of biopsy, and age within 10 years. The biopsy specimens from all cases and controls were reevaluated and readings were confirmed in a masked manner by an experienced eye pathologist. Polymerase chain reaction (PCR) analyses for C pneumoniae were performed on the 180 samples using 2 different sets of PCR primers (which target 2 different genes). A primer set targeting the ompA gene (CP1-CP2/CPC-CPD) was used to perform a nested PCR, followed by confirmation of the findings with primers targeting the 16S ribosomal RNA (rRNA) gene (Cpn90/Cpn91) in a touchdown-enzyme time-release PCR. We used positive and negative controls, as well as controls made from infected and noninfected HEp-2 cells, suspended in a formalin-fixed, paraffin-embedded matrix. Results Seventy-six percent of the 180 cases and controls were women. The mean age of the cases was 72.0 years (range 53,90), and that of the controls was 70.4 years (range 51,86). Eighty percent of the control samples were obtained by temporal artery biopsy performed within 1 year of the biopsies performed on the matched cases. Using the CP1-CP2/CPC-CPD primer set, only 1 TA case sample (1% of all case samples) was positive for the ompA gene. One control sample was also positive using these primers. With the Cpn90/Cpn91 primers, none of the cases and none of the controls were positive for the 16S rRNA gene. Conclusion The results of this study using sensitive and specific PCR analyses do not support a role for C pneumoniae in the pathogenesis of TA. [source] | ||||||||||