Tooth-brushing epilepsy with ictal orgasms.

We report a 41-year-old woman with complex reflex epilepsy in which seizures were induced exclusively by the act of tooth brushing. All the attacks occurred with a specific sensation of sexual arousal and orgasm-like euphoria that were followed by a period of impairment of consciousness. Ictal EEG demonstrated two events of epileptic seizure that were provoked after tooth brushing for 38 and 14 seconds, respectively. The interictal EEG showed epileptiform discharges over the right anterior temporal region and interictal single photon emission computed tomography (SPECT) scan showed relative hypoperfusion in the uncus of right temporal lobe. Brain magnetic resonance imaging (MRI) revealed right hippocampal atrophy. We suggest that tooth-brushing epilepsy, especially with sexual ictal manifestations, may provide insight into the cerebral pathophysiology at the right temporolimbic structure.     

Differential interictal activity of the precuneus/posterior cingulate cortex revealed by resting state functional MRI at 3T in generalized vs. partial seizure

PURPOSE: To characterize, using functional MRI (fMRI), the pattern of active brain regions in the resting state in patients with epilepsy. MATERIALS AND METHODS: We studied 28 patients with epilepsy, divided into a partial seizure (PS; N = 9) and a generalized seizure group (GS; N = 19), and 34 control subjects. Resting state fMRI was performed using a GE 3T scanner by collecting 200 volumes of echo-planar imaging (EPI) images with subjects relaxed, eyes closed. Data were processed using a modification of the method of Fransson (Hum Brain Mapp 2005;26:15-29), which reveals information on regional low-frequency Blood Oxygenation Level Dependent (BOLD) signal oscillations in the resting state without any a priori hypothesis. The significant active areas in brain were identified with both individual and group analysis. RESULTS: Controls showed active regions in the precuneus/posterior cingulate cortex (PCC) and medial prefrontal cortex (MPFC)/ventral anterior cingulate cortex (vACC), theregions associated with the brain "default mode." Similar active regions were observed in PS, whereas GS showed no significant activation of precuneus/PCC. CONCLUSION: In GS, the lack of activation in precuneus/PCC may partly account for their more severe interictal deficits, compared to PS, in cognitive functions such as concentration and memory.     

Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy

A recent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS). We examined whether this and other tagging SNPs of SCN1A were associated with an increased risk of FS in Han Chinese. A total of 728 Han Chinese patients with focal epilepsy were recruited: 97 had a history of FS (58% male, mean age 35 ± 12 years) and 631 did not (50% male, mean age 40 ± 15 years). Genotyping was performed for IVS5N +5 G>A and seven other tagging SNPs selected from the HapMap database. Genotyping was also performed in 848 ethnically matched population controls (50% male, mean age 37 ± 17 years). There was no statistically significant difference in either allele or genotype frequency of any of the SNPs studied between epilepsy patients with and without FS, and between epilepsy patients with FS and controls. The results do not suggest that SCN1A SNPs are susceptibility factors for FS in Han Chinese.     

Clinical review: Biomarkers of acute kidney injury: where are we now?

The recognition that acute kidney injury (AKI) is a significant independent risk factor for morbidity and mortality has resulted in a substantial number of publications over the past 5 years or more. In no small part these have, to a degree, highlighted the inadequacy of conventional markers of renal insufficiency in the acute setting. Much effort has been invested in the identification of early, specific AKI markers in order to aid early diagnosis of AKI and hopefully improve outcome. The search for a 'biomarker' of AKI has seen early promise replaced by a degree of pessimism due to the lack of a clear candidate molecule and variability of results. We outline the major studies described to date as well as discuss potential reasons for the discrepancies observed and suggest that evolution of the field may result in success with ultimately an improvement in patient outcomes.     

A mini pig model for visualization of perforator flap by using angiography and MIMICS

Background

Research performed using animal models has assisted in the understanding of flap anatomy and physiology. Pigs’ vasculature in the skin is anatomically and physiologically similar to human, making it an ideal model for research. Until now, most vascular imaging studies are of two-dimensions. The aim of this study is to provide a three-dimensional (3D) model that reveals detailed architecture of the vascular network of the porcine, for accurate quantitative assessment.

Methods

Five Guangxi Bama minipigs were anaesthetized intramuscularly and underwent whole body lead oxide–gelatin injection. Spiral computed tomography scanning was performed on the subjects and three-dimensional reconstructions were made. Another minipig was used, and underwent Cardiografin injection. 3D-reconstruction was executed in vivo. All subjects were then dissected by layers to document the individual perforators.

Results

Angiography using perfusion with lead oxide–gelatine mixture has the advantage of illustrating distinctively the vessels and their perforating branches. However, it is incapable of displaying other tissues structures. Angiography through perfusion with Cardiografin in vivo has the advantage of demonstrating the relationship between arteries and bones. Yet it could only display coarsely the vascular trunk, and is incapable of displaying the vascular network. By combining these two methods, the 3D structure, source, course, and territories of the arteries were presented distinctively.

Conclusions

3D modeling in combination with traditional sectional imaging of the pig model enables blood vessels to be displayed more dynamically with greater realism. The procedure described could be useful for future flap research, by offering a better visualization of the vascular structure of the skin flap, allowing for better anatomical understanding.     

Hemocompatibility evaluation of poly(glycerol-sebacate) in vitro for vascular tissue engineering

Poly(glycerol-sebacate) (PGS) is an elastomeric biodegradable polyester that could potentially be used to engineer blood vessels in vivo. However, its blood-material interactions are unknown. The objectives of this study were to: (a) fabricate PGS-based biphasic tubular scaffolds and (b) assess the blood compatibility of PGS in vitro in order to get some insight into its potential use in vivo. PGS was incorporated into biphasic scaffolds by dip-coating glass rods with PGS pre-polymer. The thrombogenicity (platelet adhesion and aggregation) and inflammatory potential (IL-1beta and TNFalpha expression) of PGS were evaluated using fresh human blood and a human monocyte cell line (THP-1). The activation of the clotting system was assessed via measurement of tissue factor expression on THP-1 cells, plasma recalcification times, and whole blood clotting times. Glass, tissue culture plastic (TCP), poly(l-lactide-co-glycolide) (PLGA), and expanded polytetrafluorethylene (ePTFE) were used as reference materials. Biphasic scaffolds with PGS as the blood-contacting surface were successfully fabricated. Relative to glass (100%), platelet attachment on ePTFE, PLGA and PGS was 61%, 100%, and 28%, respectively. PGS elicited a significantly lower release of IL-1beta and TNFalpha from THP-1 cells than ePTFE and PLGA. Similarly, relative to all reference materials, tissue factor expression by THP-1 cells was decreased when exposed to PGS. Plasma recalcification and whole blood clotting profiles of PGS were comparable to or better than those of the reference polymers tested.     

The Use of Complementary and Alternative Medicine During Pregnancy: A Longitudinal Study of Australian Women

Abstract: Background: The use of complementary and alternative medicine is increasingly prevalent in contemporary Western societies. The objective of this study was to explore trends and patterns in complementary and alternative medicine practitioner consultations and the use of complementary and alternative medicine consumption before, during, and after pregnancy and between pregnancies. Methods: Analysis focused on data from 13,961 women from the younger cohort of the Australian Longitudinal Study on Women’s Health collected between 1996 and 2006. Chi‐square tests were employed for the cross‐sectional analysis of categorical variables and t tests for continuous variables. Generalized estimating equations were used to conduct multivariate longitudinal analysis. Results: Complementary and alternative medicine use among pregnant and nonpregnant women continued to increase over the 10‐year period. Although pregnancy status was not predictive of the use of alternative treatments, pregnant women employed these therapies or modalities for the relief of pregnancy‐related complaints and symptoms. Analysis also revealed that women used complementary and alternative treatments selectively during pregnancy. Conclusions: This study highlights the need for further research that is sensitive to the consumption of specific complementary and alternative therapies or modalities and to the wider contexts within which women perceive risk associated with their use of complementary and alternative treatments. (BIRTH 38:3 September 2011)     

Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene

It is often recommended that women who carry a mutation in the BRCA1 or BRCA2 gene have their ovaries and fallopian tubes removed to reduce their risk of gynecologic cancer. The aim of this study was to evaluate women's perception of their risk of breast and ovarian cancer before and after prophylactic salpingo-oophorectomy. We surveyed 127 women who carry a BRCA1 or BRCA2 mutation and who underwent prophylactic salpingo-oophorectomy at the University Health Network, Toronto. Subjects were asked to estimate their risks of breast and ovarian cancer before and after surgery. Their perceived risks of cancers were then compared with published risks, based on their mutation status. BRCA1 carriers estimated their risk of breast cancer risk to be, on average, 69% before surgery and 41% after surgery. They estimated their risk of ovarian cancer to be 55% before surgery and 11% after surgery. BRCA2 carriers estimated their risk of breast cancer to be 69% prior to surgery and 45% after surgery and their perceived risk of ovarian cancer to be 43% before surgery and 8% after surgery. Compared with published risk figures, the perceived risk of ovarian cancer before prophylactic salpingo-oophorectomy was overestimated by 47% of BRCA1 mutation carriers and by 61% of BRCA2 mutation carriers. Most women who have undergone genetic counseling and subsequently choose prophylactic salpingo-oophorectomy accurately perceive their risk of breast cancer. However, in this study, many women overestimated their risk of ovarian cancer, particularly women who carry a BRCA2 mutation.     

Copy number variants in patients with short stature

Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents'' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes.