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https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#1
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29024499/male-partner-involvement-on-initiation-and-sustainment-of-exclusive-breastfeeding-among-hiv-infected-post-partum-women-study-protocol-for-a-randomized-controlled-trial
#2
Dorothy Ihekuna, Neal Rosenburg, William Nii Ayitey Menson, Semiu Olatunde Gbadamosi, John Olajide Olawepo, Adaeze Chike-Okoli, Chad Cross, Chima Onoka, Echezona E Ezeanolue
Exclusive Breastfeeding (EBF) among human immunodeficiency virus (HIV)-infected mothers is known to be associated with a sustained and significant reduction in HIV transmission and has the potential to reduce infant and under-five mortality. Research shows that EBF is not common in many HIV-endemic, resource-limited settings despite recommendations by the World Health Organization. Although evidence abounds that male partner involvement increases HIV testing and uptake and retention of prevention of mother-to-child transmission interventions, few studies have evaluated the impact of male partners' involvement and decision-making on initiation, maintenance, and sustainment of EBF...
October 10, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29022768/molecular-survey-on-rickettsia-spp-anaplasma-phagocytophilum-borrelia-burgdorferi-sensu-lato-and-babesia-spp-in-ixodes-ricinus-ticks-infesting-dogs-in-central-italy
#3
Giulia Morganti, Stefano Gavaudan, Cristina Canonico, Silvia Ravagnan, Emanuela Olivieri, Manuela Diaferia, Maria Luisa Marenzoni, Maria Teresa Antognoni, Gioia Capelli, Cornelia Silaghi, Fabrizia Veronesi
Dogs are a common feeding hosts for Ixodes ricinus and may act as reservoir hosts for zoonotic tick-borne pathogens (TBPs) and as carriers of infected ticks into human settings. The aim of this work was to evaluate the presence of several selected TBPs of significant public health concern by molecular methods in I. ricinus recovered from dogs living in urban and suburban settings in central Italy. A total of 212 I. ricinus specimens were collected from the coat of domestic dogs. DNA was extracted from each specimen individually and tested for Rickettsia spp...
October 12, 2017: Vector Borne and Zoonotic Diseases
https://www.readbyqxmd.com/read/29017519/development-of-an-infant-feeding-core-outcome-set-for-childhood-obesity-interventions-study-protocol
#4
Karen Matvienko-Sikar, Molly Byrne, Colette Kelly, Elaine Toomey, Marita Hennessy, Declan Devane, Caroline Heary, Janas Harrington, Niamh McGrath, Michelle Queally, Patricia M Kearney
BACKGROUND: Childhood obesity is a significant public health challenge that affects approximately one in five children worldwide. Infant feeding practices are implicated in the aetiology of childhood obesity. Infant feeding interventions for childhood obesity are increasingly popular but outcome reporting is inconsistent across trials. Lack of standardisation limits examination of intervention effects and mechanisms of change. The aim of the current project is to develop a core set of infant feeding outcomes for children ≤ 1 year old, to be evaluated in childhood obesity intervention trials...
October 10, 2017: Trials
https://www.readbyqxmd.com/read/28992926/the-real-welfare-scheme-identification-of-risk-and-protective-factors-for-welfare-outcomes-in-commercial-pig-farms-in-the-uk
#5
F Pandolfi, I Kyriazakis, K Stoddart, N Wainwright, S A Edwards
From 2013-2016, animal-based measures were collected as part of the "Real Welfare" protocol adopted by the Red Tractor Pigs Assurance Scheme to assess the welfare in finisher pig herds in the UK. Trained veterinarians from 89 veterinary practices assessed 112,241 pens (hospital pens excluded) from 1928 farms using a multistage sampling protocol, and collected data about pig welfare, management and farm environment. Multivariable analyses were conducted for five main welfare outcomes: lameness, pigs requiring hospitalization, severe tail lesions, severe body marks and enrichment use ratio (number of active pigs interacting with the enrichment/total number of active pigs)...
October 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28977341/caloric-restriction-study-design-limitations-in-rodent-and-nonhuman-primate-studies
#6
Kelli L Vaughan, Tamzin Kaiser, Robert Peaden, R Michael Anson, Rafael de Cabo, Julie A Mattison
For a century, we have known that caloric restriction influences aging in many species. However, only recently it was firmly established that the effect is not entirely dependent on the calories provided. Instead, rodent and nonhuman primate models have shown that the rate of aging depends on other variables, including the macronutrient composition of the diet, the amount of time spent in the restricted state, age of onset, the gender and genetic background, and the particular feeding protocol for the control group...
June 13, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28966950/measuring-caenorhabditis-elegans-sleep-during-the-transition-to-adulthood-using-a-microfluidics-based-system
#7
Huiyan Huang, Komudi Singh, Anne C Hart
C. elegans sleep during development is regulated by genes and cellular mechanisms that are conserved across the animal kingdom (Singh et al., 2014; Trojanowski & Raizen, 2016). C. elegans developmental sleep is usually assessed during the transition to adulthood, a 2.6 h time interval called lethargus (Raizen et al., 2008; Singh et al., 2011). During lethargus, animals cycle between periods of immobility (sleep bouts) and periods of active locomotion (motion bouts). Sleep bouts resemble sleep in other species based on behavioral criteria, including cessation of feeding and locomotion, increased arousal threshold for response to sensory stimulation, rapid reversibility, and homeostatic response to sleep loss...
March 20, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28960619/examination-of-intensive-care-unit-patients-oral-health
#8
Gul Gunes Celik, Ismet Eser
BACKGROUND: Oral health problems are common complications that most intensive care unit patients experience. There are many factors that affect oral health negatively and nurses have important responsibilities in this regard. AIM: The aim of this study was assessment of the intensive care unit patients' oral health and risk factors. METHODS: This study was planned as a descriptive study and conducted between December 2015 and June 2016, with 202 patients in 20 intensive care units of 6 hospitals in Turkey...
September 28, 2017: International Journal of Nursing Practice
https://www.readbyqxmd.com/read/28956273/tube-feed-necrosis-after-major-gastrointestinal-oncologic-surgery-institutional-lessons-and-a-review-of-the-literature
#9
S A Sethuraman, V K Dhar, D A Habib, J E Sussman, S A Ahmad, S A Shah, B J Tsuei, J J Sussman, Daniel E Abbott
BACKGROUND: Small bowel necrosis after enteral feeding through a jejunostomy tube (tube feed necrosis, TFN) is a rare, serious complication of major abdominal surgery. However, strategies to reduce the incidence and morbidity of TFN are not well established. Here, in the largest series of TFN presented to date, we report our institutional experience and a comprehensive review of the literature. METHODS: Eight patients who experienced TFN from 2000 to 2014 after major abdominal surgery for oncologic indications at the University of Cincinnati were reviewed...
September 27, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28953843/what-are-the-risks-associated-with-different-selective-serotonin-re-uptake-inhibitors-ssris-to-treat-depression-and-anxiety-in-pregnancy-an-evaluation-of-current-evidence
#10
Kate Womersley, Katherine Ripullone, Mark Agius
A literature review was conducted to elucidate the respective reproductive safety profiles of different SSRIs to inform the prescribing practices of doctors treating pregnant women with anxiety and depression. BACKGROUND: Women are most likely to be diagnosed with depression or anxiety between the ages of 25 and 44 years, which are also the years of childbearing potential (Burke et al., 1991). Therefore a substantial number of women face a decision about whether or not to take an antidepressant or anxiolytic during pregnancy...
September 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28953525/nutrition-practices-and-predictors-of-postnatal-growth-in-preterm-infants-during-hospitalization-a-longitudinal-study
#11
Briar L McKenzie, Liza Edmonds, Ruth Thomson, Jillian J Haszard, Lisa A Houghton
Premature infants are at high risk of undernutrition and extrauterine growth restriction (EUGR). AIM: To evaluate the relation between nutrition practices and growth rate in preterm infants from birth to 36 weeks postmenstrual age (PMA). METHODS: Longitudinal data were collected retrospectively in 103 infants born <33-weeks gestation admitted to Dunedin NICU, New Zealand. Weight, length and head circumference at birth and 36-weeks PMA z-scores were calculated using the INTERGROWTH Preterm Growth Standard...
September 26, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28944022/analyzing-time-ordered-event-data-with-missed-observations
#12
Adriaan M Dokter, E Emiel van Loon, Wimke Fokkema, Thomas K Lameris, Bart A Nolet, Henk P van der Jeugd
A common problem with observational datasets is that not all events of interest may be detected. For example, observing animals in the wild can difficult when animals move, hide, or cannot be closely approached. We consider time series of events recorded in conditions where events are occasionally missed by observers or observational devices. These time series are not restricted to behavioral protocols, but can be any cyclic or recurring process where discrete outcomes are observed. Undetected events cause biased inferences on the process of interest, and statistical analyses are needed that can identify and correct the compromised detection processes...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28940731/respiratory-morbidity-was-an-important-consequence-of-prematurity-in-the-first-two-years-after-discharge-in-three-cohorts-from-1996-2009
#13
Estelle E M Mulder, Monique Rijken, Lotte de Smet, Steffen Pauws, Enrico Lopriore, Arjan B Te Pas
AIM: This study aimed to evaluate the respiratory morbidity of preterm infants in the first two years after discharge in three cohorts from 1996-2009. METHODS: We included infants with a gestational age from 25+0 to 29+6 weeks, who were born in 1996-1997, 2003-2004 and 2008-2009 at the Leiden University Medical Center in the Netherlands. The following parameters were recorded: bronchopulmonary dysplasia (BPD), defined as oxygen demand or positive pressure at 36 weeks, mortality, duration of supplemental oxygen, discharge with supplemental oxygen and a nasogastric feeding tube, rehospitalisation and the use of inhaled medication...
September 21, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28936202/cell-surface-properties-of-lactococcus-lactis-reveal-milk-protein-binding-specifically-evolved-in-dairy-isolates
#14
Mariya Tarazanova, Thom Huppertz, Marke Beerthuyzen, Saskia van Schalkwijk, Patrick Janssen, Michiel Wels, Jan Kok, Herwig Bachmann
Surface properties of bacteria are determined by the molecular composition of the cell wall and they are important for interactions of cells with their environment. Well-known examples of bacterial interactions with surfaces are biofilm formation and the fermentation of solid materials like food and feed. Lactococcus lactis is broadly used for the fermentation of cheese and buttermilk and it is primarily isolated from either plant material or the dairy environment. In this study, we characterized surface hydrophobicity, charge, emulsification properties, and the attachment to milk proteins of 55 L...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28935932/cannabidiol-attenuates-alcohol-induced-liver-steatosis-metabolic-dysregulation-inflammation-and-neutrophil-mediated-injury
#15
Yuping Wang, Partha Mukhopadhyay, Zongxian Cao, Hua Wang, Dechun Feng, György Haskó, Raphael Mechoulam, Bin Gao, Pal Pacher
Cannabidiol (CBD) is a non-psychoactive component of marijuana, which has anti-inflammatory effects. It has also been approved by FDA for various orphan diseases for exploratory trials. Herein, we investigated the effects of CBD on liver injury induced by chronic plus binge alcohol feeding in mice. CBD or vehicle was administered daily throughout the alcohol feeding study. At the conclusion of the feeding protocol, serums samples, livers or isolated neutrophils were utilized for molecular biology, biochemistry and pathology analysis...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28930984/high-fat-diet-feeding-and-high-throughput-triacylglyceride-assay-in-drosophila-melanogaster
#16
Soda Balla Diop, Ryan T Birse, Rolf Bodmer
Heart disease is the number one cause of human death worldwide. Numerous studies have shown strong connections between obesity and cardiac malfunction in humans, but more tools and research efforts are needed to better elucidate the mechanisms involved. For over a century, the genetically highly tractable model of Drosophila has been instrumental in the discovery of key genes and molecular pathways that proved to be highly conserved across species. Many biological processes and disease mechanisms are functionally conserved in the fly, such as development (e...
September 13, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28923597/targeting-demyelination-via-%C3%AE-secretases-promoting-sapp%C3%AE-release-to-enhance-remyelination-in-central-nervous-system
#17
Gemma Llufriu-Dabén, Alex Carrete, Elena Chierto, Jo Mailleux, Emeline Camand, Anne Simon, Tim Vanmierlo, Christiane Rose, Bernadette Allinquant, Jerome J A Hendriks, Charbel Massaad, Delphine Meffre, Mehrnaz Jafarian-Tehrani
Remyelination is an endogenous regenerative process of myelin repair in the central nervous system (CNS) with limited efficacy in demyelinating disorders. As strategies enhancing endogenous remyelination become a therapeutic challenge, we have focused our study on α-secretase-induced sAPPα release, a soluble endogenous protein with neuroprotective and neurotrophic properties. However, the role of sAPPα in remyelination is not known. Therefore, we investigated the remyelination potential of α-secretase-induced sAPPα release following CNS demyelination in mice...
September 18, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#18
Tarek A Abulezz
BACKGROUND: Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population...
September 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28921432/demonstration-scale-high-cell-density-fermentation-of-pichia-pastoris
#19
Wan-Cang Liu, Ping Zhu
Pichia pastoris has been one of the most successful heterologous overexpression systems in generating proteins for large-scale production through high-cell-density fermentation. However, optimizing conditions of the large-scale high-cell-density fermentation for biochemistry and industrialization is usually a laborious and time-consuming process. Furthermore, it is often difficult to produce authentic proteins in large quantities, which is a major obstacle for functional and structural features analysis and industrial application...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28916196/self-reported-and-observed-feeding-practices-of-rhode-island-head-start-teachers-knowing-what-not-to-do
#20
Megan Fallon, Katherine Halloran, Kathleen Gorman, Dianne Ward, Geoffrey Greene, Alison Tovar
PURPOSE: Through their feeding practices, adult caregivers play an important role in shaping children's eating behaviors. However, the feeding practices of child care teachers have received little attention. The purpose of this study was to compare child care teachers' self-reported feeding practices and observed feeding practices during a preschool meal. METHODS: Rhode Island Head Start teachers (n = 85) were observed during breakfast and lunch where feeding practices were coded using a tool adapted from the Environmental Policy Assessment and Observation (EPAO) tool...
September 12, 2017: Appetite
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