The salivary microbiota as a diagnostic indicator of oral cancer: A descriptive,non-randomized study of cancer-free and oral squamous cell carcinoma subjects

Background  

The purpose of the present investigation was to determine if the salivary counts of 40 common oral bacteria in subjects with an oral squamous cell carcinoma (OSCC) lesion would differ from those found in cancer-free (OSCC-free) controls.     

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease phenotype was linked to gross DNA rearrangements (35 and 85 kb deletions and a translocation) in three SVAS families. However, gross rearrangements of ELN have not been identified in most cases of autosomal dominant SVAS. To define the spectrum of ELN mutations responsible for this disorder, we refined the genomic structure of human ELN and used this information in mutational analyses. ELN point mutations co-segregate with the disease in four familial cases and are associated with SVAS in three sporadic cases. Two of the mutations are nonsense, one is a single base pair deletion and four are splice site mutations. In one sporadic case, the mutation arose de novo. These data demonstrate that point mutations of ELN cause autosomal dominant SVAS.      

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11. Comparative sequence analysis reveals 92-96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution (5-10 million years ago). Analysis of sequences flanking the duplication region identifies the presence of an unusual GCTTTTTGC repeat which may be a sequence-specific integration site for the process of pericentromeric- directed transposition. The breakpoint sequence and phylogenetic analysis predict a two-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. In addition to facilitating more effective mutation detection among ALD patients, these findings provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for non- homologous interchromosomal exchange.      

RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

Mucinous carcinomas represent a distinct morphological subtype which can arise from several organ sites, including the ovary, and their genetic characteristics are largely under‐described. Exome sequencing of 12 primary mucinous ovarian tumours identified RNF43 as the most frequently somatically mutated novel gene, secondary to KRAS and mutated at a frequency equal to that of TP53 and BRAF. Further screening of RNF43 in a larger cohort of ovarian tumours identified additional mutations, with a total frequency of 2/22 (9%) in mucinous ovarian borderline tumours and 6/29 (21%) in mucinous ovarian carcinomas. Seven mutations were predicted to truncate the protein and one missense mutation was predicted to be deleterious by in silico analysis. Six tumours had allelic imbalance at the RNF43 locus, with loss of the wild‐type allele. The mutation spectrum strongly suggests that RNF43 is an important tumour suppressor gene in mucinous ovarian tumours, similar to its reported role in mucinous pancreatic precancerous cysts. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

The effectiveness of quetiapine versus conventional antipsychotics in improving cognitive and functional outcomes in standard treatment settings

OBJECTIVE: To examine the effectiveness of quetiapine versus conventional antipsychotics in improving cognitive and functional outcomes. METHOD: Forty stable outpatients with DSM-IV schizophrenia treated in public outpatient clinics were randomly assigned to continue taking conventional antipsychotic medications or switch to quetiapine for 6 months, beginning September 1998 and ending July 2000. Neurocognitive and functional measures were obtained at study entry, 3 months, and 6 months by raters blinded to treatment. Group differences were examined using repeated-measures analyses of covariance for mixed models. RESULTS: The mean (SD) dose of conventional antipsychotics in chlorpromazine equivalents was 348.00 (348.28) mg/day; the mean (SD) dose of quetiapine was 319.25 (142.55) mg/day. A cognitive function summary score improved in the quetiapine group relative to the group treated with conventional antipsychotics over the 6-month period (F = 5.80, df = 1,28.9; p <.023). Patients taking quetiapine did better with respect to both verbal fluency (initiation) and verbal memory. There were also statistically significant group differences with respect to quality of life favoring the quetiapine group (F = 4.87, df = 1,29; p <.04). Differences were not found with respect to adaptive functioning. CONCLUSION: Quetiapine improved cognition relative to conventional agents. After 6 months, groups differed by more than 1 standard deviation when baseline cognitive functioning was taken into account. No group differences were found with respect to improvements in community functioning. Improvements in adaptive functioning may lag behind improvements in cognition. Psychosocial programming may be necessary to translate gains in cognition into improvements in adaptive functioning.     

颅内动脉瘤栓塞后并发脑缺血的原因分析

1 临床资料我们总结2004-02/2004-06在第四军医大学唐都医院神经外科住院行栓塞治疗颅内动脉瘤患者27(男12,女15)例,年龄32～72岁.     

Unusual presentation of perirenal lung metastases

Lung cancer is not commonly known to metastasise to the perirenal space, with only five such cases previously published. We present an unusual case of perirenal lung metastases manifesting as diffuse perinephric stranding which to our knowledge has not been described before.     

High prevalence of HIV infection among homeless and street-involved Aboriginal youth in a Canadian setting

Aboriginal people experience a disproportionate burden of HIV infection among the adult population in Canada; however, less is known regarding the prevalence and characteristics of HIV positivity among drug-using and street-involved Aboriginal youth. We examined HIV seroprevalence and risk factors among a cohort of 529 street-involved youth in Vancouver, Canada. At baseline, 15 (2.8%) were HIV positive, of whom 7 (46.7%) were Aboriginal. Aboriginal ethnicity was a significant correlate of HIV infection (odds ratio = 2.87, 95%CI: 1.02 – 8.09). Of the HIV positive participants, 2 (28.6%) Aboriginals and 6 (75.0%) non-Aboriginals reported injection drug use; furthermore, hepatitis C co-infection was significantly less common among Aboriginal participants (p = 0.041). These findings suggest that factors other than injection drug use may promote HIV transmission among street-involved Aboriginal youth, and provide further evidence that culturally appropriate and evidence-based interventions for HIV prevention among Aboriginal young people are urgently required.     

Accuracy of passive ankle joint positioning during quiet stance in young and elderly subjects

Age-related postural deficits elicit compensatory mechanisms such as ankle dorsiflexion in the elderly. To gain further insight into this problem, the ability to match an ankle angle during quiet stance was studied in 12 elderly and 12 young subjects. Following an initial single limb angular perturbation presented in the ±4° range, a subject had to return a tilt platform to level, as determined by the nonperturbed limb. Elderly subjects exhibited significant positive (0.9°) over-shoot of the level position, in contrast to young subjects who matched ankle angle with a mean error of −0.1°. The elderly group also exhibited an increase in positioning error for angular displacements in the range between −1 and +1°. The results document age-related postural changes in ankle positioning which might affect postural stability in older adults.