Maximizing intelligence obtained from higher-order DNA mixtures from volume crime samples

ABSTRACT

This work collates data from the analysis of complex mixtures analysed in STRmix during routine no-suspect volume crime work. It interrogates the upload rate for these types of mixtures and which component of the profile has been able to be interpreted for upload. The number of profiles giving multiple uploads and the amount of replicate PCR analysis has been collated.     

A genome wide association study identifies new genes potentially associated with eyelid sagging

Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10^‐10) and rs4746957 (P = 1.06 × 10^‐8), were significantly associated with eyelid sagging severity. The rs16927253‐T and rs4746957‐A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.     

Chronic low level physical activity as a determinant of high density lipoprotein cholesterol and subfractions

Physical activity has been associated with reduced risk of coronary heart disease. A mechanism for the reduced risk may be through increased high density lipoprotein cholesterol (HDL-C) and subfractions, in particular HDL2-C. Research associated with increased physical activity investigating HLD-C have assessed the effects of intense aerobic activity. The current research evaluated the relationship between low intensity, long duration activity to HDL-C and subfractions in 35 active postal carriers. Measurements of physical activity via the Large Scale Integrated monitor and reported miles walked, and lipoproteins were assessed at 3-month intervals over a 1-year period. Reported miles walked/day (5.3) was significantly correlated with HLD2-C (r = 0.50, P = 0.003) and approached significance for HDL-C (r = 0.29, P = 0.06). The Large Scale Integrated measures were correlated with HDL-C (r = 0.44, P = 0.008) and HDL2-C (r = 0.44, P = 0.007). Controlling for either age, alcohol consumption, body mass index, or leisure time activity did not reduce the relationship between reported miles walked or Large Scale Integrated readings and HDL2-C, suggesting that the increased HDL-C was the result of long duration, low intensity physical activity.     

Digital mammography. ROC studies of the effects of pixel size and unsharp-mask filtering on the detection of subtle microcalcifications

We investigated the spatial resolution requirement and the effect of unsharp-mask filtering on the detectability of subtle microcalcifications in digital mammography. Digital images were obtained by digitizing conventional screen-film mammograms with a 0.1 X 0.1 mm2 pixel size, processed with unsharp masking, and then reconstituted on film with a Fuji image processing/simulation system (Fuji Photo Film Co., Tokyo, Japan). Twenty normal cases and 12 cases with subtle microcalcifications were included. Observer performance experiments were conducted to assess the detectability of subtle microcalcifications in the conventional, the unprocessed digital, and the unsharp-masked mammograms. The observer response data were evaluated using receiver operating characteristic (ROC) and LROC (ROC with localization) analyses. Our results indicate that digital mammograms obtained with 0.1 X 0.1 mm2 pixels provide lower detectability than the conventional screen-film mammograms. The detectability of microcalcifications in the digital mammograms is improved by unsharp-mask filtering; the processed mammograms still provide lower accuracy than the conventional mammograms, however, chiefly because of increased false-positive detection rates for the processed images at each subjective confidence level. Viewing unprocessed digital and unsharp-masked images in pairs resulted in approximately the same detectability as that obtained with the unsharp-masked images alone. However, this result may be influenced by the fact that the same limited viewing time was necessarily divided between the two images.     

Obesity and pronated foot type may increase the risk of chronic plantar heel pain: a matched case-control study

Background  

Chronic plantar heel pain (CPHP) is one of the most common musculoskeletal disorders of the foot, yet its aetiology is poorly understood. The purpose of this study was to examine the association between CPHP and a number of commonly hypothesised causative factors.     

The neu-oncogene product in serum and tissue of patients with breast carcinoma

BACKGROUND:: A soluble 105 kD neu-related protein is detectable in conditionedmedium from breast cancer cells expressing the neu-oncogeneproduct and in serum of nude mice bearing tumors that overexpressneu-oncogene PATIENTS AND METHODS:: In 100 patients with primary (n - 33) relapse-free (n - 6) andmetastatic (n - 61) breast carcinoma the serum levels of thesoluble new-related protein were investigated by ELISA techniques.Median age was 57 years, range 26–89 years. RESULTS:: The neu-protein serum levels were below 40 HNU/ml (human neu-antigenunit) in 72 patients and 40 or more HNU/ml in 28 patients. In30 patients with primary breast carcinoma, tested before mastectomy,all serum- neu-protein samples were negative. However, 26 of61 metastazised patients (43%) were serum-neu-protein-positive.In disseminated disease (n – 61), serum-neu-protein-positivitywas more likely to be seen in patients with visceral metastases(18/33 – 54%), than in patients with nonvisceral metastases(8/28 – 28%). Furthermore, monitoring of the serum-neu-proteinlevels reflected clinical course. For 53 patients original paraffin-embeddedtumor material was available for studying immunohistochemicalneu-protein expression. In 39/53 (73%) patients immunohistochemicaland ELISA data showed corresponding results. In 27/30 (90%)patients, from whom sera and tissue could be obtained at thesame time at primary mastectomy, results of immunohistochemistryin primary tumor and serum ELISA were negative and mutuallyconfirmatory. However, the other three patients were positivefor immunohistochemical neu-protein expression in primary tumorbut negative for serum-neu-protein expression. CONCLUSIONS:: Our results suggest that patients with advanced breast cancerand an elevated serum-neu-protein level may have a poor clinicaloutcome. This test might be a useful tool for monitoring patientswith advanced breast carcinoma, but not those with early disease.Further prospective studies are warranted to elucidate the questionof whether this test can contribute to determining prognosisand treatment strategies. breast carcinoma, c-erb-B2, HER-2, neu, oncogene, pl85     

Gabapentin-induced coma: A MR-spectrometry analysis

As for the majority of antiepileptic drugs, encephalopathy, manifested by transient somnolence, mood and motor disorders, is a possible side-effect. To our knowledge, there is little information about gabapentin-induced coma. We report a third case of gabapentin-induced coma where magnetic resonance-spectrometry was performed in diagnosis assessment.     

Digital radiography of subtle pulmonary abnormalities: an ROC study of the effect of pixel size on observer performance

Forty conventional radiographs with examples of mild interstitial infiltrates and subtle pneumothoraces and 40 normal studies of the chest were selected and digitized, with pixel sizes of 1.0, 0.5, 0.2, and 0.1 mm. Observer performance tests were carried out using receiver operating characteristic analysis. Conventional radiographs and digitized images were compared. The results indicate that, in such cases, diagnostic accuracy increases significantly as the pixel size is reduced, at least to the 0.1-mm level. We conclude that, for digital systems using screen-film or similar image receptors, use of a pixel size substantially larger than 0.1 mm may result in some loss of diagnostic accuracy.