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https://www.readbyqxmd.com/read/28742930/information-about-first-trimester-screening-and-self-reported-distress-among-pregnant-women-and-partners-comparing-two-methods-of-information-giving-in-sweden
#1
Peter Lindgren, Magdalena Stadin, Inger Blomberg, Karin Nordin, Hanna Sahlgren, Charlotta Ingvoldstad Malmgren
INTRODUCTION: Balanced information prior to prenatal diagnosis (PND) aims to help expectant parents to make an informed choice. However, it is important that the information does not increase the expectant parents' psychological distress. The aim was to examine psychological distress among expectant parents, before and after receiving information about PND, to evaluate the possible differences between two different procedures of information giving, and to evaluate the association between satisfaction with the information and psychological distress...
July 25, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28742801/tracking-the-return-of-aedes-aegypti-to-brazil-the-major-vector-of-the-dengue-chikungunya-and-zika-viruses
#2
Panayiota Kotsakiozi, Andrea Gloria-Soria, Adalgisa Caccone, Benjamin Evans, Renata Schama, Ademir Jesus Martins, Jeffrey R Powell
BACKGROUND: Aedes aegypti, commonly known as "the yellow fever mosquito", is of great medical concern today primarily as the major vector of dengue, chikungunya and Zika viruses, although yellow fever remains a serious health concern in some regions. The history of Ae. aegypti in Brazil is of particular interest because the country was subjected to a well-documented eradication program during 1940s-1950s. After cessation of the campaign, the mosquito quickly re-established in the early 1970s with several dengue outbreaks reported during the last 30 years...
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28742523/pregnancy-outcomes-among-patients-with-recurrent-pregnancy-loss-and-uterine-anatomic-abnormalities
#3
Daniel Gabbai, Avi Harlev, Michael Friger, Naama Steiner, Ruslan Sergienko, Andrey Kreinin, Asher Bashiri
BACKGROUND: Different etiologies for recurrent pregnancy loss have been identified, among them are: anatomical, endocrine, genetic, chromosomal and thrombophilia pathologies. AIMS: To assess medical and obstetric characteristics, and pregnancy outcomes, among women with uterine abnormalities and recurrent pregnancy loss (RPL). This study also aims to assess the impact of uterine anatomic surgical correction on pregnancy outcomes. METHODS: A retrospective case control study of 313 patients with two or more consecutive pregnancy losses followed by a subsequent (index) pregnancy...
July 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28742311/an-analysis-of-selected-risk-factors-of-osteoporosis-%C3%A2-dietary-patterns-and-physical-activity-%C3%A2-in-pubescent-girls-from-the-lubelskie-province
#4
Anna Czeczuk, Elżbieta Huk-Wieliczuk, Agnieszka Dmitruk, Helena Popławska
INTRODUCTION: Peak bone mass is modulated by intrinsic (genetic) and extrinsic factors, such as diet, physical activity, stimulants and medications. Approximately 80-85% of peak bone mass is achieved during puberty. OBJECTIVE: The aim of the study was to analyze selected risk factors for osteoporosis, specifically diet and physical activity, in 10- to 15-year-old girls. MATERIAL AND METHODS: The study included 461 girls from Eastern Poland (Lublin Province)...
2017: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/28741586/a-new-mutation-in-the-calcium-sensing-receptor-gene-causing-hypocalcaemia-case-report-of-a-father-and-two-sons
#5
M K Schoutteten, B Bravenboer, S Seneca, K Stouffs, B Velkeniers
BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who presented with paraesthesias in both limbs. He has two sons (patient II1 a nd I I2)...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28741264/why-are-diabetes-medications-so-expensive-and-what-can-be-done-to-control-their-cost
#6
REVIEW
Laura N McEwen, Sarah Stark Casagrande, Shihchen Kuo, William H Herman
PURPOSE OF REVIEW: The purposes of this study were to describe how medication prices are established, to explain why antihyperglycemic medications have become so expensive, to show trends in expenditures for antihyperglycemic medications, and to highlight strategies to control expenditures in the USA. RECENT FINDINGS: In the U.S., pharmaceutical manufacturers set the prices for new products. Between 2002 and 2012, expenditures for antihyperglycemic medications increased from $10 billion to $22 billion...
September 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28739795/clinical-characteristics-and-treatment-outcomes-of-patients-with-acquired-macrolide-resistant-mycobacterium-abscessus-lung-disease
#7
Hayoung Choi, Su-Young Kim, Dae Hun Kim, Hee Jae Huh, Chang-Seok Ki, Nam Yong Lee, Seung-Heon Lee, Soyoun Shin, Sung Jae Shin, Charles L Daley, Won-Jung Koh
Macrolide antibiotics are mainstays in the treatment of lung disease due to the Mycobacterium abscessus complex. Although previous studies have reported development of acquired macrolide resistance in this species, limited data are available on the outcomes of lung disease due to macrolide-resistant M. abscessus subspecies abscessus (hereafter M. abscessus). This study evaluated the clinical features, treatment outcomes, and molecular characteristics of macrolide-resistant isolates of M. abscessus We performed a retrospective review of medical records and genetic analysis of clinical isolates from 13 patients who had acquired macrolide-resistant M...
July 24, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28738823/metformin-suppresses-cancer-initiation-and-progression-in-genetic-mouse-models-of-pancreatic-cancer
#8
Ke Chen, Weikun Qian, Zhengdong Jiang, Liang Cheng, Jie Li, Liankang Sun, Cancan Zhou, Luping Gao, Meng Lei, Bin Yan, Junyu Cao, Wanxing Duan, Qingyong Ma
BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-associated mortality worldwide with an overall five-year survival rate less than 7%. Accumulating evidence has revealed the cancer preventive and therapeutic effects of metformin, one of the most widely prescribed medications for type 2 diabetes mellitus. However, its role in pancreatic cancer is not fully elucidated. Herein, we aimed to further study the preventive and therapeutic effects of metformin in genetically engineered mouse models of pancreatic cancer...
July 24, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28738778/cardiac-profile-of-asymptomatic-children-with-becker-and-duchenne-muscular-dystrophy-under-treatment-with-steroids-and-with-without-perindopril
#9
Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, George Papadopoulos
BACKGROUND: To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). METHODS: This is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9-13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only...
July 24, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28738350/unilateral-sensorineural-hearing-loss-medical-context-and-etiology
#10
Antoine Paul, Sandrine Marlin, Marine Parodi, Isabelle Rouillon, Joanne Guerlain, Véronique Pingault, Vincent Couloigner, Erea Noel Garabedian, Françoise Denoyelle, Natalie Loundon
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included...
July 22, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28738325/a-proposal-of-the-european-association-for-the-study-of-obesity-to-improve-the-icd-11-diagnostic-criteria-for-obesity-based-on-the-three-dimensions-etiology-degree-of-adiposity-and-health-risk
#11
Johannes Hebebrand, Jens-Christian Holm, Euan Woodward, Jennifer Lyn Baker, Ellen Blaak, Dominique Durrer Schutz, Nathalie J Farpour-Lambert, Gema Frühbeck, Jason G C Halford, Lauren Lissner, Dragan Micic, Dana Mullerova, Gabriela Roman, Karin Schindler, Hermann Toplak, Tommy L S Visscher, Volkan Yumuk
Diagnostic criteria for complex medical conditions caused by a multitude of both genetic and environmental factors should be descriptive and avoid any attribution of causality. Furthermore, the wording used to describe a disorder should be evidence-based and avoid stigmatization of the affected individuals. Both terminology and categorizations should be readily comprehensible for healthcare professionals and guide clinical decision making. Uncertainties with respect to diagnostic issues and their implications may be addressed to direct future clinical research...
July 22, 2017: Obesity Facts
https://www.readbyqxmd.com/read/28738037/mosaicism-implications-for-genetic-counseling-and-medical-management
#12
Laura Waldman, Suzanne M Mahon
Mosaicism describes the presence of two or more populations of cells with different genotypes in one individual that have developed from a single fertilized egg. This article reviews the various clinical presentations of mosaicism associated with hereditary cancer syndromes and the challenges in providing patients and their families with appropriate genetic testing, as well as provides recommendations for cancer presentation and early detection. Management of mosaicism is based on personal and family history, along with genetic testing results...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28737932/ins-and-outs-in-environmental-and-occupational-safety-studies-of-asthma-and-engineered-nanomaterials
#13
Marina A Dobrovolskaia, Michael R Shurin, Valerian E Kagan, Anna A Shvedova
According to the Centers for Disease Control and Prevention, approximately 25 million Americans suffer from asthma. The disease total annual cost is about $56 billion and includes both the direct and indirect costs of medications, hospital stays, missed work, and decreased productivity. Air pollution with xenobiotics, bacterial agents, and industrial nanomaterials, such as carbon nanotubes, contribute to the exacerbation of this condition and are a point of particular attention in environmental toxicology as well as in occupational health and safety research...
July 24, 2017: ACS Nano
https://www.readbyqxmd.com/read/28737744/delivering-advanced-therapies-the-big-pharma-approach
#14
REVIEW
J Tarnowski, D Krishna, L Jespers, A Ketkar, R Haddock, J Imrie, S Kili
After two decades of focused development and some recent clinical successes, cell and gene therapy (CGT) is emerging as a promising approach to personalized medicines. Genetically engineered cells as a medical modality are poised to stand alongside or in combination with small molecule and biopharmaceutical approaches to bring new therapies to patients globally. Big pharma can play a vital role in industrializing CGT by focusing on diseases with high un-met medical need and compelling genetic evidence. Pharma should invest in manufacturing and supply chain solutions that deliver reproducible, high quality therapies at a commercially viable cost...
July 24, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28737197/-congenital-hyperinsulinism-of-the-newborn-a-case-report
#15
Josefina Sáez, Juan Carlos Pattillo, Pilar Orellana, Claudia Godoy
Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn and it is characterized by an inappropriately elevated insulin level in presence of hypoglycemia. Initial management is medical treatment, but if it fails, partial pancreatectomy is the surgical procedure of choice. OBJECTIVE: To report a case of a newborn with CH to aware on this condition and update its multidisciplinary management. CASE REPORT: The case of a full term newborn with severe symptomatic hypoglycemia unresponsive to medical treatment is reported ...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28737006/unrecognized-viral-infections-and-chromosome-abnormalities-as-a-cause-of-fetal-death-examination-with-fluorescence-in%C3%A2-situ-hybridization-immunohistochemistry-and-polymerase-chain-reaction
#16
Bente Ediassen Opsjøn, Svein Arne Nordbø, Christina Vogt
Fifteen to 50% of fetal deaths remain unexplained after post-mortem examination depending on inclusion criteria and classification systems. Our aim was to examine a selection of unexplained fetal deaths in order to investigate whether any common chromosome aberrations or viral infections were present. Reports from 351 fetal autopsies performed at the Department of Pathology and Medical Genetics at St. Olavs University Hospital from 2001 through 2010 were reviewed. Of these, 105 fetal deaths were classified as unexplained...
July 24, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28736756/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#17
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
June 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28736571/evaluation-of-quality-assessment-protocols-for-high-throughput-genome-resequencing-data
#18
REVIEW
Matteo Chiara, Giulio Pavesi
Large-scale initiatives aiming to recover the complete sequence of thousands of human genomes are currently being undertaken worldwide, concurring to the generation of a comprehensive catalog of human genetic variation. The ultimate and most ambitious goal of human population scale genomics is the characterization of the so-called human "variome," through the identification of causal mutations or haplotypes. Several research institutions worldwide currently use genotyping assays based on Next-Generation Sequencing (NGS) for diagnostics and clinical screenings, and the widespread application of such technologies promises major revolutions in medical science...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28736245/early-clinical-observations-on-the-use-of-imatinib-mesylate-in-fop-a-report-of-seven-cases
#19
Frederick S Kaplan, Jeffrey R Andolina, Peter C Adamson, David T Teachey, Jerry Z Finklestein, David H Ebb, Benjamin Whitehead, Benjamin Jacobs, David M Siegel, Richard Keen, Edward Hsiao, Robert J Pignolo
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic disorder of progressive, disabling heterotopic ossification (HO) for which there is presently no definitive treatment. Research studies have identified multiple potential targets for therapy in FOP, and novel drug candidates are being developed for testing in clinical trials. A complementary approach seeks to identify approved drugs that could be re-purposed for off-label use against defined targets in FOP...
July 20, 2017: Bone
https://www.readbyqxmd.com/read/28736222/hypermucoviscosity-rmpa-and-aerobactin-are-associated-with-community-acquired-klebsiella-pneumoniae-bacteremic-isolates-causing-liver-abscess-in-singapore
#20
Thean Yen Tan, Melissa Ong, Yvonne Cheng, Lily Siew Yong Ng
INTRODUCTION: This retrospective study investigated the clinical etiology of community-acquired bacteremic Klebsiellapneumoniae infections, and characterized laboratory and genetic markers which may be associated with primary liver abscess (PLA). METHODS: Community-onset K. pneumoniae bacteremic episodes from 2010 to 2011 were identified from the laboratory information system. Isolates were retrieved for susceptibility testing, hypermucoviscosity testing, PCR-based serotyping (K1, K2 and K5) and PCR detection of virulence genes (rmpA, alls, kfu and aerobactin)...
July 14, 2017: Journal of Microbiology, Immunology, and Infection, Wei Mian Yu Gan Ran za Zhi
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