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Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Abhinandan Mani Tripathi, Abhishek Niranjan, Sribash Roy
Development of flower color in plants is a complex process. Among others, it is an important trait for ornamental flowering plants. Canna is a flowering ornamental plant of family Cannaceae. To understand the molecular mechanism of flower color development in Canna, RNA sequencing from flower tissues of two contrasting flower color cultivars, Red President (RP) and Tropical Sunrise (TS) was performed. More than 27.0 million and 19.0 million clean reads were obtained from RP and TS, respectively. The combined clean reads were assembled into 147,295 unigenes...
March 7, 2018: Plant Physiology and Biochemistry: PPB
Philippe Desmarais, Catherine Miville, Ángela Milán-Tomás, Quoc Dinh Nguyen, Carmen Ojeda-López, Mario Masellis, Sandra E Black, Danielle Molinari Andrade, Nathan Herrmann
OBJECTIVES: To analyze age representation trends over time in antiepileptic drug (AED) trials and to assess trial design elements as possible barriers to enrollment of elderly patients. MATERIALS AND METHODS: We searched MEDLINE, EMBASE, and PsycINFO, and meta-analyzed demographic data of cohorts enrolled in randomized controlled trials (RCTs) of AEDs published since 1991. Data analysis included trends of age representation over time and trial design elements associated with average age of enrolled cohorts...
March 6, 2018: Epilepsy Research
Kevin Smith, Jude Mary Cénat, Andréanne Lapierre, Jacinthe Dion, Martine Hébert, Karine Côté
BACKGROUND: Adolescents in a dating relationship can interact anytime using information and communication technologies. Yet, despite associated potential benefits, this availability of means to reach out to their partner may also exacerbate possible conflictual exchanges, including dating violence through technology. This study aimed to document the prevalence of cyber dating violence (CDV) victimization and perpetration among teenagers. It also explored self-esteem and psychological distress in participants having been perpetrators, victims, or perpetrator-victims, compared with those not having experienced CDV...
February 17, 2018: Journal of Affective Disorders
Jihui Zhang, Siu Ping Lam, Shirley Xin Li, Yaping Liu, Joey Wing Yan Chan, Michael Ho Ming Chan, Chung Shun Ho, Albert Martin Li, Yun Kwok Wing
INTRODUCTION: There are contradictory findings regarding the associations of parental depression on the hypothalamic-pituitary-adrenal axis activity of their offspring. We aimed to explore the associations of parental depression on the diurnal salivary cortisol profile in their child and adolescent offspring. METHODS: A total of 189 unaffected child and adolescent offspring as determined by structured clinical interview were divided into 3 groups according to their parental history of depression, namely current parental depression (CPD, n = 27), past parental depression (PPD, n = 57), and no parental depression (NPD, n = 105)...
February 27, 2018: Journal of Affective Disorders
Claudio Gariazzo, Massimo Stafoggia, Silvia Bruzzone, Armando Pelliccioni, Francesco Forastiere
Use of mobile phones while driving is known to cause crashes with possible fatalities. Different habits of mobile phone use might be distracting forces and display differential impacts on accident risk; the assessment of the relative importance is relevant to implement prevention, mitigation, and control measures. This study aimed to assess the relationship between the use of mobile phones at population level and road crash fatalities in large urban areas. Data on road crashes with fatalities were collected from seven Italian metropolitan areas and matched in time and space with high resolution mobile phone traffic volume data about calls, texts, Internet connections and upload/download data...
March 12, 2018: Accident; Analysis and Prevention
Tanya Moutray, Jennifer R Evans, Noemi Lois, David J Armstrong, Tunde Peto, Augusto Azuara-Blanco
BACKGROUND: Diabetic retinopathy (DR) is a chronic progressive disease of the retinal microvasculature associated with prolonged hyperglycaemia. Proliferative DR (PDR) is a sight-threatening complication of DR and is characterised by the development of abnormal new vessels in the retina, optic nerve head or anterior segment of the eye. Argon laser photocoagulation has been the gold standard for the treatment of PDR for many years, using regimens evaluated by the Early Treatment of Diabetic Retinopathy Study (ETDRS)...
March 15, 2018: Cochrane Database of Systematic Reviews
Emily A McCourt, Gui-Shuang Ying, Anne M Lynch, Alan G Palestine, Brandie D Wagner, Erica Wymore, Lauren A Tomlinson, Gil Binenbaum
Importance: The Colorado Retinopathy of Prematurity (CO-ROP) model uses birth weight, gestational age, and weight gain at the first month of life (WG-28) to predict risk of severe retinopathy of prematurity (ROP). In previous validation studies, the model performed very well, predicting virtually all cases of severe ROP and potentially reducing the number of infants who need ROP examinations, warranting validation in a larger, more diverse population. Objective: To validate the performance of the CO-ROP model in a large multicenter cohort...
March 15, 2018: JAMA Ophthalmology
Mohamed Fathi, Adel R Moawad, Magdy R Badr
Cryopreservation of oocytes would serve as an alternative to overcome the limited availability of dromedary camel oocytes and facilitate improvements in IVP techniques in this species. Our goal was to develop a protocol for the vitrification of camel oocytes at the germinal vesicle (GV) stage using different cryoprotectant combinations: 20% EG and 20% DMSO (VS1), 25% EG plus 25% DMSO (VS2) or 25% EG and 25% glycerol (VS3) and various cryo-carriers; straws or open pulled-straw (OPS) or solid surface vitrification (SSV); and Cryotop...
2018: PloS One
Bernardo Costa-Pinel, Santiago Mestre-Miravet, Francisco Barrio-Torrell, Joan-Josep Cabré-Vila, Xavier Cos-Claramunt, Sofía Aguilar-Sanz, Claustre Solé-Brichs, Conxa Castell-Abat, Victoria Arija-Val, Jaana Lindström
BACKGROUND: The DE-PLAN-CAT project (Diabetes in Europe-Prevention using lifestyle, physical activity and nutritional intervention-Catalonia) has shown that an intensive lifestyle intervention is feasible in the primary care setting and substantially reduces the incidence of diabetes among high-risk Mediterranean participants. The DP-TRANSFERS project (Diabetes Prevention-Transferring findings from European research to society) is a large-scale national programme aimed at implementing this intervention in primary care centres whenever feasible...
2018: PloS One
Belén López-Pérez, Catherine Deeprose, Yaniv Hanoch
Mental imagery is known to play a key role in the development and maintenance of depression and anxiety. Prisoners commonly experience psychological distress, but interventions to address this are currently lacking. We aimed to examine the link between prospective mental imagery and anxiety and depression among prisoners. One hundred twenty-three male prisoners from a Category C prison in southwest England participated in the study. They completed the Centre for Epidemiologic Studies Depression Scale (CES-D) and the General Anxiety Disorder Scale (GAD-7) to measure whether they experience depression and/or anxiety symptoms...
2018: PloS One
Marco Pio La Manna, Valentina Orlando, Paolo Li Donni, Guido Sireci, Paola Di Carlo, Antonio Cascio, Francesco Dieli, Nadia Caccamo
We used the Luminex Bead Array Multiplex Immunoassay to measure cytokines, chemokines and growth factors responses to the same antigens used for RD1-based Interferon γ Release Assay (IGRA) test. Seventy-nine individuals, 27 active TB, 32 latent infection subsets, 20 individuals derivative purified protein (PPD) negative (subjects that do not have any indurative cutaneous reaction after 72 hrs of intradermal injection of PPD) and with other pulmonary disease were retrospectively studied. Forty-eight analytes were evaluated by Luminex Assay in plasma obtained from whole blood stimulated cells...
2018: PloS One
Nan Shwe Nwe Htun, Peter Odermatt, Ivan Müller, Peiling Yap, Peter Steinmann, Christian Schindler, Markus Gerber, Rosa Du Randt, Cheryl Walter, Uwe Pühse, Jürg Utzinger, Nicole Probst-Hensch
BACKGROUND: Low- and middle-income countries are facing a dual disease burden with infectious diseases (e.g., gastrointestinal tract infections) and non-communicable diseases (e.g., diabetes) being common. For instance, chronic parasite infections lead to altered immune regulatory networks, anemia, malnutrition, and diarrhea with an associated shift in the gut microbiome. These can all be pathways of potential relevance for insulin resistance and diabetes. The aim of this study was to investigate the association between common gastrointestinal tract infections and glycemia in children from non-fee paying schools in South Africa...
March 15, 2018: PLoS Neglected Tropical Diseases
Yu-Ri Kang, Hwang-Yong Choi, Jung-Yun Lee, Soo In Jang, Hanna Kang, Jung-Bae Oh, Hae-Dong Jang, Young-In Kwon
Onion ( Allium cepa L.) is widely consumed as food or medicinal plant due to its well-defined health benefits. The antioxidant and antihyperlipidemic effects of onion and its extracts have been reported well. However, very limited information on anti-hyperglycemic effect is available in processed onion extracts. In our previous study, we reported that Amadori rearrangement compounds (ARCs) produced by heat-processing in Korean ginseng can reduce carbohydrate absorption by inhibiting intestinal carbohydrate hydrolyzing enzymes in both in vitro and in vivo animal models...
March 15, 2018: International Journal of Molecular Sciences
Dengwei Jue, Xuelian Sang, Liqin Liu, Bo Shu, Yicheng Wang, Jianghui Xie, Chengming Liu, Shengyou Shi
Ubiquitin-conjugating enzymes (E2s or UBC enzymes) play vital roles in plant development and combat various biotic and abiotic stresses. Longan ( Dimocarpus longan Lour.) is an important fruit tree in the subtropical region of Southeast Asia and Australia; however the characteristics of the UBC gene family in longan remain unknown. In this study, 40 D. longan UBC genes ( DlUBCs ), which were classified into 15 groups, were identified in the longan genome. An RNA-seq based analysis showed that DlUBCs showed distinct expression in nine longan tissues...
March 15, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Christian Møller Madsen, Benjamin Badault, Lars Nybo
Badminton-specific speed and endurance performance was evaluated in both cross-sectional and longitudinal studies of elite youth players and compared to the physiological capacities of world top-50 singles players.The cross-sectional study involved ten males in the category U15 (<15 years), ten U17, nine U19 and four senior elite players. They performed 30-m sprint, counter-movement jump (CMJ) and badminton-specific speed (B-SPEED) and endurance (B-ENDURANCE) tests. The longitudinal data were collected for ten U15 players with 1- and 2-year follow-up measures...
March 13, 2018: Journal of Strength and Conditioning Research
Liv Reidun Tverelv, Sveinung Wergeland Sørbye, Finn Egil Skjeldestad
OBJECTIVE: The Norwegian Cervical Cancer Screening Programme recommends follow-up of histologically confirmed normal/cervical intraepithelial neoplasia (CIN) 1 with combined cytology and human papillomavirus testing within 6 to 12 months. This study examines adherence to guidelines and subsequent risk for CIN 3+ within this subset of women. MATERIALS AND METHODS: Women aged 25 to 69 years attending the Norwegian Cervical Cancer Screening Programme in Norway's 2 northernmost counties were included...
March 14, 2018: Journal of Lower Genital Tract Disease
Jaime Fernández-Sarmiento, Joseph A Carcillo, Claudia M Salinas, Edgar F Galvis, Paula A López, Andrés Jagua-Gualdrón
OBJECTIVES: To evaluate adherence to the sepsis bundle before and after an educational strategy and its impact on hospital stay. DESIGN: A prospective, analytic, before-and-after study of children with severe sepsis and septic shock who presented to the emergency department. SETTING: Carried out from January to December 2014 in the emergency department of a quaternary care hospital. PATIENTS: Of a total of 19,836 children who presented to the emergency department, 4,383 had an infectious pathology, with 203 of these showing severe sepsis and septic shock (124 pre intervention, and 79 post intervention)...
March 14, 2018: Pediatric Critical Care Medicine
Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
Gabriel Carvajal, Denis Dupoiron, Valerie Seegers, Nathalie Lebrec, François Boré, Pierre-Yves Dubois, Damien Leblanc, Thierry Delorme, Sabrina Jubier-Hamon
BACKGROUND: Pancreatic cancer is the fourth leading cause of cancer-related death in Europe and the United States. Studies have demonstrated that patients with pancreatic cancer have a high prevalence of pain, with rates varying from 47% to 82%. Analgesia using intrathecal drug delivery systems (IDDS) has been poorly studied specifically in this population. METHODS: The IDDS for pancreatic cancer pain was a follow-up observational study designed to evaluate 11-year results of IDDS for refractory pancreatic cancer pain at the Institut de Cancérologie de L'Ouest, Paul Papin in France...
March 14, 2018: Anesthesia and Analgesia
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