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Andrea De Lorenzo, Juliana Duarte Lopes da Silva, Cinthia E James, Alexandre C Pereira, Annie Seixas Bello Moreira
BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease. OBJECTIVE: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH. METHODS: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE...
February 2018: Arquivos Brasileiros de Cardiologia
Xi Lin, Nuo Zhou, Xuanping Huang, Shaohua Song, Hongyi Li
OBJECTIVE: This study is to present experiences of using anterior maxillary segmental distraction osteogenesis (AMSDO) with internal distractors for treatment of maxillary hypoplasia in patients with repaired cleft palate. MATERIALS AND METHODS: A total of 42 patients of maxillary hypoplasia with repaired cleft palate were included in this study, and underwent AMSDO. Cephalometric analysis and speech quality assessments were performed to evaluate the changes after AMSDO and its long-term effect on stability...
March 20, 2018: Journal of Craniofacial Surgery
Elizabeth Florez, Nancy Acelas, Frank Ramírez, Cacier Hadad, Albeiro Restrepo
A staggering structural diversity for the microsolvation of F- with up to six water molecules is uncovered in this work. Given the structural variety and the proximity in energy among several local minima, we show here that in order to match available experimental data, statistical averages over contributing structures are needed, rather than assigning experimental values to isolated structures. Our results suggest that the formal charge in F- is strong enough as to induce partial and total dissociation of water molecules and to alter the nature of the surrounding network of water to water hydrogen bonds...
March 20, 2018: Physical Chemistry Chemical Physics: PCCP
Matteo Ugolini, Jenny Gerhard, Sanne Burkert, Kristoffer Jarlov Jensen, Philipp Georg, Friederike Ebner, Sarah M Volkers, Shruthi Thada, Kristina Dietert, Laura Bauer, Alexander Schäfer, Elisa T Helbig, Bastian Opitz, Florian Kurth, Saubashya Sur, Nickel Dittrich, Sumanlatha Gaddam, Melanie L Conrad, Christine S Benn, Ulrike Blohm, Achim D Gruber, Andreas Hutloff, Susanne Hartmann, Mark V Boekschoten, Michael Müller, Gregers Jungersen, Ralf R Schumann, Norbert Suttorp, Leif E Sander
Live attenuated vaccines are generally highly efficacious and often superior to inactivated vaccines, yet the underlying mechanisms of this remain largely unclear. Here we identify recognition of microbial viability as a potent stimulus for follicular helper T cell (TFH cell) differentiation and vaccine responses. Antigen-presenting cells (APCs) distinguished viable bacteria from dead bacteria through Toll-like receptor 8 (TLR8)-dependent detection of bacterial RNA. In contrast to dead bacteria and other TLR ligands, live bacteria, bacterial RNA and synthetic TLR8 agonists induced a specific cytokine profile in human and porcine APCs, thereby promoting TFH cell differentiation...
March 19, 2018: Nature Immunology
Joan M O'Brien, Rebecca J Salowe, Raymond Fertig, Julia Salinas, Maxwell Pistilli, Prithvi S Sankar, Eydie Miller-Ellis, Amanda Lehman, Windell Murphy, Melissa Homsher, Katelyn Gordon, Gui-Shuang Ying
PURPOSE: To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort. METHODS: FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities...
March 16, 2018: American Journal of Ophthalmology
Jaideep Patel, Mahmoud Al Rifai, Maren T Scheuner, Steven Shea, Roger S Blumenthal, Khurram Nasir, Michael J Blaha, John W McEvoy
OBJECTIVE: To determine whether family history of coronary heart disease (FH) definitions differ in their association with atherosclerotic cardiovascular disease (ASCVD) events. PATIENTS AND METHODS: Participants who provided FH data from July 17, 2000, through February 24, 2004, were identified. Definitions of FH were any, premature, and Familial Risk Assessment (FRA). Outcomes included coronary heart disease (CHD), stroke, peripheral artery disease, angina, and congestive heart failure...
March 16, 2018: Mayo Clinic Proceedings
Jaime Ibarrola, Rafael Sádaba, Amaia Garcia-Peña, Vanessa Arrieta, Ernesto Martinez-Martinez, Virginia Alvarez, Amaya Fernández-Celis, Alicia Gainza, Enrique Santamaría, Joaquin Fernández-Irigoyen, Victoria Cachofeiro, Renaud Fay, Patrick Rossignol, Natalia López-Andrés
AIMS: Galectin-3 (Gal-3), a β-galactoside-binding lectin involved in cardiac inflammation and fibrosis, could regulate oxidative stress, although the mechanisms have not been elucidated. We herein investigated the changes in oxidative stress-related mediators induced by Gal-3 in human cardiac fibroblasts and in pathological animal and human models of cardiac diseases. RESULTS: Using quantitative proteomics and immunodetection approaches, we have identified that Gal-3 down-regulated fumarate hydratase (FH) in human cardiac fibroblasts...
May 1, 2018: International Journal of Cardiology
Franco Armelao, Riccardo Pertile, Gianni Miori, Renzo Franch, Ivo Avancini, Alberto Meggio, Gaia Franceschini, Cecilia Pravadelli, Chiara Tieppo, Katia Faitini, Davide Giacomin, Pier Giuseppe Orlandi, Enrico Tasini, Giovanni de Pretis
BACKGROUND AND AIMS: There are few prospective data about the use of surveillance colonoscopy and the risk of recurrent neoplasia in first degree relatives (FDRs) of colorectal cancer (CRC) patients. We examined the use and yield of surveillance colonoscopy in a population-based screening program (Trentino, Italy) METHODS: 1252 FDRs have been included in this study. We calculated compliance (percentage of FDRs who underwent surveillance colonoscopy among those eligible), appropriateness of colonoscopy (appropriate if performed within 6 months of the guidelines recommended interval) and diagnostic yield for neoplasia...
February 21, 2018: Digestive and Liver Disease
R van Meer, O V Gritsenko, E J Baerends
Almost all functionals that are currently used in density matrix functional theory have been created by some a priori ansatz that generates approximations to the second-order reduced density matrix (2RDM). In this paper, a more consistent approach is used: we analyze the 2RDMs (in the natural orbital basis) of rather accurate multi-reference configuration interaction expansions for several small molecules (CH4 , NH3 , H2 O, FH, and N2 ) and use the knowledge gained to generate new functionals. The analysis shows that a geminal-like structure is present in the 2RDMs, even though no geminal theory has been applied from the onset...
March 14, 2018: Journal of Chemical Physics
Vesa M Olkkonen, Juha Sinisalo, Matti Jauhiainen
Remarkably good results have been achieved in the treatment of atherosclerotic cardiovascular diseases (CVD) by using statin, ezetimibe, antihypertensive, antithrombotic, and PCSK9 inhibitor therapies and their proper combinations. However, despite this success, the remaining CVD risk is still high. To target this residual risk and to treat patients who are statin-intolerant or have an exceptionally high CVD risk for instance due to familial hypercholesterolemia (FH), new therapies are intensively sought. One pathway of drug development is targeting the circulating triglyceride-rich lipoproteins (TRL) and their lipolytic remnants, which, according to the current view, confer a major CVD risk...
March 8, 2018: Atherosclerosis
Valerio Nardone, Paolo Tini, Stefania Croci, Salvatore Francesco Carbone, Lucio Sebaste, Tommaso Carfagno, Giuseppe Battaglia, Pierpaolo Pastina, Giovanni Rubino, Maria Antonietta Mazzei, Luigi Pirtoli
Background: The aim of our work is to assess the potential role of texture analysis (TA), applied to computed tomography (CT) simulation scans, in relation to the development of insufficiency fractures (IFs) in patients undergoing radiation therapy (RT) for pelvic malignancies. Methods: We analyzed patients undergoing pelvic RT from Jan-2010 to Dec-2016, 31 of whom had developed IFs of the pelvis. We analyzed CT simulation scans using LifeX Software© , and in particular we selected three regions of interest (ROI): L5 body, the sacrum and both the femoral heads...
February 2018: Quantitative Imaging in Medicine and Surgery
Jianhua Yan
PURPOSE: Fibrous histiocytomas (FHs) involving the orbit are uncommon. To our knowledge, here the authors report the first patient with an orbital low-grade malignant FH originating from the medial rectus muscle. METHODS: A clinical report relating clinical features as well as imaging and histopathologic findings is presented. RESULTS: A 26-year-old female presented with a left eye proptosis that had been present for 4 months. A small left exotropia was observed and ocular motility evaluation revealed a -3 adduction and -1 abduction of the left eye...
March 13, 2018: Journal of Craniofacial Surgery
Sen Zhang, Yu Yang, Satoshi Takizawa, Li-An Hou
This study investigated the pretreatment effect of ferrihydrite (FH) on the removal of dissolved organic matter (DOM) and membrane fouling control in a hybrid adsorption-ultrafiltration (UF) membrane system. Powdered activated carbon (PAC) was chosen for comparative study, and three surrogates, namely, humic acid (HA), sodium alginate (SA) and bovine serum albumin, were applied in feed water to simulate humic substances, polysaccharides and proteins, respectively. In the hybrid adsorption-membrane system, the impacts of adsorbent cake layers on DOM removal and membrane fouling were systematically investigated...
March 10, 2018: Science of the Total Environment
Masoud Tajamolian, Parisa Kolahdouz, Parvaneh Nikpour, Seyed Khalil Forouzannia, Mohammad Hasan Sheikhha, Ehsan Farashahi Yazd
Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene...
2018: Advanced Biomedical Research
Haiying Wang, Bing Lv
PURPOSE: The purpose was to compare the outcomes between KDSS and PLIF for lumbar degenerative disease. METHODS: This study retrospectively reviewed 98 patients who were treated with lumbar surgery from March 2012 to June 2014, including 48 managed with KDSS (KDSS group) and 50 underwent PLIF (PLIF group). All patients were followed up for at least two years. Duration of operation, blood loss, hospital stay, complications and patient satisfaction survey were recorded and analyzed...
March 9, 2018: World Neurosurgery
A Mattina, D Rosenbaum, R Bittar, D Bonnefont-Rousselot, D Noto, M Averna, E Bruckert, P Giral
BACKGROUND AND AIM: Lipoprotein-associated phospholipase A2 (Lp-PLA2 ) plays a key role in atherosclerosis development. It is considered a marker of increased risk of cardiovascular disease (CVD) and plaque vulnerability. Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol and a higher prevalence of early CVD. Our aim was to evaluate the differences in Lp-PLA2 activity in a population of hypercholesterolemic patients with and without definite FH...
February 2, 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
Patricia Rubio-Marín, Alfredo Michán-Doña, Juan Maraver-Delgado, Raquel Arroyo-Olivares, Rosalía Barrado Varea, Leopoldo Pérez de Isla, Pedro Mata
INTRODUCTION AND OBJECTIVE: Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded. SUBJECTS AND METHODS: Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation...
March 6, 2018: Endocrinología, Diabetes y Nutrición
Antonia Fh Smelt, Jacobijn Gussekloo, Lynette W Bermingham, Elizabeth Allen, Alan D Dangour, Simone Jpm Eussen, Bernard Favrat, Lisette Cpgm De Groot, Frans J Kok, Timothy Kwok, Arduino A Mangoni, George Ntaios, Ondine Van De Rest, Eric Seal, Paul Vaucher, Petra Verhoef, Theo Stijnen, Wendy Pj Den Elzen
BACKGROUND/OBJECTIVES: Low vitamin B12 and folate levels in community-dwelling older people are usually corrected with supplements. However, the effect of this supplementation on haematological parameters in older persons is not known. Therefore, we executed a systematic review and individual participant data meta-analysis of randomised placebo-controlled trials (RCTs). SUBJECTS/METHODS: We performed a systematic search in PubMed, EMBASE, Web of Science, Cochrane and CENTRAL for RCTs published between January 1950 and April 2016, where community-dwelling elderly (60+ years) who were treated with vitamin B12 or folic acid or placebo...
March 8, 2018: European Journal of Clinical Nutrition
Zhigui Ma, Haoming Zhao, Baoting Fan, Chi Yang, Minjie Chen, Shanyong Zhang
To evaluate the feasibility of the orthodontic traction after local resection of the condylar osteochondroma (OC).From November 2011 to September 2016, consecutive patients with condylar OC who underwent orthodontic extraction after local resection of the mass were reviewed. Clinical data and cone-beam computed tomography (CT) were obtained before treatment (T0), 1 week after surgery (T1), and at least 6-month follow-up after OC resection (T2). Repeated-measures analysis of variance with Bonferroni multiple-comparison test was used to compare the 3-dimensional cephalometric variables at different time points and the paired t test was used to compare changes of temporomandibular joint (TMJ) space between the 2 sides at T1 and T2...
March 2018: Medicine (Baltimore)
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