Reversible posterior leukoencephalopathy syndrome in post streptococcal glomerulonephritis

Reversible Posterior Leukoencephalopathy syndrome (RPLS) is a uncommon neurological disorder among pediatric population. Clinical features started with decreased alertness and activity, and associated with headache, visual changes, altered mental status such as seizures, confusion and abnormal behavior. Radio imaging findings commonly present typical changes in the white matter located in the posterior regions of the cerebral hemisphere and cerebellum. This syndrome commonly associated with hypertension, ecclampsia, renal failure or the used of some immunosuppression medications especially cyclosporine and tacrolimus. We describe a previously healthy 9-year-old boy who presented with acute post-streptococcal glomerulonephritis, and he developed neurological symptoms of posterior leukoencephalopathy syndrome with hypertensive crisis. His CT scan shows typical changes of non enhancing white matter with hypodensities at the occipital and parietal temporal areas. He had a rapid resolution of neurological symptoms with adequate treatment of hypertension. He was discharged well after 14 days in the ward

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. METHODS: We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. RESULTS: The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). CONCLUSIONS: These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.The COGS project is funded through a European Commission's Seventh Framework Programme grant (agreement number 223175 - HEALTH-F2-2009-223175). BCAC is funded by Cancer Research UK [C1287/A10118, C1287/A12014] and by the European Community´s Seventh Framework Programme under grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 16 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defense (W81XWH-10-1- 0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. This study made use of data generated by the Wellcome Trust Case Control consortium. Funding for the project was provided by the Wellcome Trust under award 076113. The results published here are in part based upon data generated by The Cancer Genome Atlas Project established by the National Cancer Institute and National Human Genome Research Institute.This is the author accepted manuscript. The final version is available from BMJ Group at http://dx.doi.org/10.1136/jmedgenet-2015-103529

Discordant identification of pediatric severe sepsis by research and clinical definitions in the SPROUT international point prevalence study

Introduction: Consensus criteria for pediatric severe sepsis have standardized enrollment for research studies. However, the extent to which critically ill children identified by consensus criteria reflect physician diagnosis of severe sepsis, which underlies external validity for pediatric sepsis research, is not known. We sought to determine the agreement between physician diagnosis and consensus criteria to identify pediatric patients with severe sepsis across a network of international pediatric intensive care units (PICUs). Methods: We conducted a point prevalence study involving 128 PICUs in 26 countries across 6 continents. Over the course of 5 study days, 6925 PICU patients <18 years of age were screened, and 706 with severe sepsis defined either by physician diagnosis or on the basis of 2005 International Pediatric Sepsis Consensus Conference consensus criteria were enrolled. The primary endpoint was agreement of pediatric severe sepsis between physician diagnosis and consensus criteria as measured using Cohen's ?. Secondary endpoints included characteristics and clinical outcomes for patients identified using physician diagnosis versus consensus criteria. Results: Of the 706 patients, 301 (42.6 %) met both definitions. The inter-rater agreement (? ± SE) between physician diagnosis and consensus criteria was 0.57 ± 0.02. Of the 438 patients with a physician's diagnosis of severe sepsis, only 69 % (301 of 438) would have been eligible to participate in a clinical trial of pediatric severe sepsis that enrolled patients based on consensus criteria. Patients with physician-diagnosed severe sepsis who did not meet consensus criteria were younger and had lower severity of illness and lower PICU mortality than those meeting consensus criteria or both definitions. After controlling for age, severity of illness, number of comorbid conditions, and treatment in developed versus resource-limited regions, patients identified with severe sepsis by physician diagnosis alone or by consensus criteria alone did not have PICU mortality significantly different from that of patients identified by both physician diagnosis and consensus criteria. Conclusions: Physician diagnosis of pediatric severe sepsis achieved only moderate agreement with consensus criteria, with physicians diagnosing severe sepsis more broadly. Consequently, the results of a research study based on consensus criteria may have limited generalizability to nearly one-third of PICU patients diagnosed with severe sepsis

Foreign direct investment flows and policies in East Asia.

The authors attempt to provide a comprehensive picture of the trends and patterns of FDI flows in East Asia, and discuss the differing investment climates and policies in each individual East Asian countries

Associations between psycho-hedonic responses to sweet and savoury tastes with diet and body composition in a sample of asian females

Taste preferences guide food choices and dietary behaviours, yet few studies have shown a relationship between sweet and savoury taste preference and differences in dietary intakes or energy consumed from different “taste clusters”. We investigated differences in psycho-hedonic responses to sweet and savoury tastes and their association with energy intake, proportion of energy from macronutrients and energy intake from different “taste clusters”. In addition, we evaluated correspondence between two methods to classify “sweet-liker” status and the overlap between sweet and savoury taste preferences. Psycho-hedonic responses to sweet and savoury tastes of female participants (n = 66) were captured via staircase paired preference and the “sweet-liker phenotype” classification method. Quantitative dietary energy and macronutrient intakes were measured using three-day food diary, and the relative contributions of specific taste clusters to energy intake were derived for each participant. All participants completed anthropometric assessments measuring body mass index (BMI) and adiposity. Results showed no association between sweet and savoury preferences with dietary energy or macronutrient intakes, though there was a trend towards higher sweet food consumption among “sweet-likers”. A higher preference for savouriness was not associated with differences in daily energy intake, energy intake from protein, BMI or adiposity levels. There was little overlap in sweet and savoury preferences, suggesting a bi-modal split in taste preferences. “Sweet-likers” preferred a higher mean sucrose concentration than sweet “dislikers” (p < 0.001) indicating agreement between the two approaches. Future studies should consider comparing taste-liker differences using food choice tasks to address the current gap between taste preference measures and actual dietary behaviours

The population attributable fraction as a measure of the impact of warfarin pharmacogenetic testing

10.2217/pgs.12.104Pharmacogenomics13111247-1256PARM

Bacteria Display Differential Growth and Adhesion Characteristics on Human Hair Shafts

Apart from the skin surface, hair represents a significant tissue component with a capacity of bacterial interactions. New information can be obtained about hair function through the characterization of bacterial adherence, colonization, and responses to hair shafts per se. In this proof-of-principle study, we examine the growth kinetics of Gram-positive Staphylococcus aureus and Staphylococcus epidermidis, and Gram-negative Pseudomonas aeruginosa and Escherichia coli in the presence of human hair shafts. We explore the ability of these bacteria to adhere to and colonize hair shaft surfaces, as well as the resulting impact on the hair’s surface morphology. We show that hair shafts inhibit the growth of Gram-positive S. aureus and S. epidermidis, while the growth kinetics of P. aeruginosa and E. coli remain unaffected. Scanning electron microscope analysis and steeping studies show that P. aeruginosa and E. coli to adhere to and colonize on human hair shafts without significantly affecting the hair shaft’s surface morphology. P. aeruginosa produced a substantial amount of biofilm on the hair shaft surfaces, while E. coli specifically inhabited the edges of the cuticle scales. Taken together, our results demonstrate differences in bacterial responses to human hair shafts, which may provide novel insights into hair and scalp health

Bacteria display differential growth and adhesion characteristics on human hair shafts

Apart from the skin surface, hair represents a significant tissue component with a capacity of bacterial interactions. New information can be obtained about hair function through the characterization of bacterial adherence, colonization, and responses to hair shafts per se. In this proof-of-principle study, we examine the growth kinetics of Gram-positive Staphylococcus aureus and Staphylococcus epidermidis, and Gram-negative Pseudomonas aeruginosa and Escherichia coli in the presence of human hair shafts. We explore the ability of these bacteria to adhere to and colonize hair shaft surfaces, as well as the resulting impact on the hair's surface morphology. We show that hair shafts inhibit the growth of Gram-positive S. aureus and S. epidermidis, while the growth kinetics of P. aeruginosa and E. coli remain unaffected. Scanning electron microscope analysis and steeping studies show that P. aeruginosa and E. coli to adhere to and colonize on human hair shafts without significantly affecting the hair shaft's surface morphology. P. aeruginosa produced a substantial amount of biofilm on the hair shaft surfaces, while E. coli specifically inhabited the edges of the cuticle scales. Taken together, our results demonstrate differences in bacterial responses to human hair shafts, which may provide novel insights into hair and scalp health

Independent and combined impact of texture manipulation on oral processing behaviours among faster and slower eaters

Background: Food texture can moderate eating rate and ad libitum energy intake. Many foods are combined with condiments when consumed and the texture and eating properties differ considerably between condiments and carrier foods. Little is known about how combinations of textures impact oral processing or whether these differences are affected by individual eating-styles. Objective: We investigated the impact of texture parameters (unit size, thickness, hardness and lubrication) on oral processing behaviours for carrots and rice-crackers, and tested whether these behaviours differ between 'faster' and 'slower' eaters. Method: Seventy participants (34 males, 26.0 ± 5.4 years, BMI = 21.5 ± 1.7 kg m-2) consumed 24 weight-matched carrot samples varying in unit size (large/medium/small), thickness (thick/thin), hardness (hard/soft) and lubrication (with/without mayonnaise). In a second step, participants consumed 8 weight-matched cracker samples varying in unit size (large/small), hardness (hard/soft) and lubrication (with/without mayonnaise). Sample consumption was video-recorded for post hoc behavioural annotation to derive specific oral processing behaviours. Participants were divided into 'faster' or 'slower' eater groups using a post hoc median split based on eating rate of raw carrot. Results: Across texture parameters, hardness had the largest influence (p thickness > lubrication > unit size. For crackers, the rank order of eating rate was hardness > lubrication > unit size. Harder carrot samples with decreased unit size and reduced thickness combined had a larger synergistic effect in reducing eating rate (p < 0.001) than manipulation of any single texture parameter alone. Reducing the unit size of crackers while increasing hardness without lubrication combined (p = 0.015) to produce the largest reduction in eating rate. There were no significant differences between fast and slow eaters on their oral processing behaviours across texture manipulations. Conclusions: Combinations of texture manipulations have the largest impact in moderating oral processing behaviours, and this is consistent across 'faster' and 'slower' eaters. Changing food-texture presents an effective strategy to guide reformulation of product sensory properties to better regulate eating rate and energy intake, regardless of an individual's natural eating-style

Studies on the Proteome of Human Hair - Identification of Histones and Deamidated Keratins

Human hair is laminar-fibrous tissue and an evolutionarily old keratinization product of follicle trichocytes. Studies on the hair proteome can give new insights into hair function and lead to the development of novel biomarkers for hair in health and disease. Human hair proteins were extracted by detergent and detergent-free techniques. We adopted a shotgun proteomics approach, which demonstrated a large extractability and variety of hair proteins after detergent extraction. We found an enrichment of keratin, keratin-associated proteins (KAPs), and intermediate filament proteins, which were part of protein networks associated with response to stress, innate immunity, epidermis development, and the hair cycle. Our analysis also revealed a significant deamidation of keratin type I and II, and KAPs. The hair shafts were found to contain several types of histones, which are well known to exert antimicrobial activity. Analysis of the hair proteome, particularly its composition, protein abundances, deamidated hair proteins, and modification sites, may offer a novel approach to explore potential biomarkers of hair health quality, hair diseases, and aging