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New born screening

Sigrid Bosteels, Michel Vandenbroeck, Geert Van Hove
New-born screening programs for congenital disorders and chronic disease are expanding worldwide and children "at risk" are identified by nationwide tracking systems at the earliest possible stage. These practices are never neutral and raise important social and ethical questions. An emergent concern is that a reflexive professionalism should interrogate the ever earlier interference in children's lives. The Flemish community of Belgium was among the first to generalize the screening for hearing loss in young children and is an interesting case to study the public justification of early interventions for families with deaf children...
October 19, 2016: Journal of Bioethical Inquiry
Sheena Mary McCormack, Veronica Noseda, Jean-Michel Molina
INTRODUCTION: In contrast to the global trend showing a decline in new HIV infections, the number reported in the World Health Organization (WHO) region of Europe is increasing. Health systems are disparate, but even countries with free access to screening and treatment observe continuing high rates of new infections in key populations, notably men who have sex with men (MSM). Pre-exposure prophylaxis (PrEP) is only available in France. This commentary describes the European epidemics and healthcare settings where PrEP could be delivered, how need might be estimated for MSM and the residual barriers to access...
2016: Journal of the International AIDS Society
Matthew McGovern, Zahra Reyani, Pamela O'Connor, Martin White, Jan Miletin
: Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-month period. Infants who had thyroid function testing (TFT) checked at 10-14 days of life because of maternal hypothyroidism during the period of study were included. The results of the newborn bloodspot and day 10-14 TFT were recorded along with whether or not patients were subsequently treated...
October 14, 2016: European Journal of Pediatrics
Kathrin I Mohr
For thousands of years people were delivered helplessly to various kinds of infections, which often reached epidemic proportions and have cost the lives of millions of people. This is precisely the age since mankind has been thinking of infectious diseases and the question of their causes. However, due to a lack of knowledge, the search for strategies to fight, heal, and prevent the spread of communicable diseases was unsuccessful for a long time. It was not until the discovery of the healing effects of (antibiotic producing) molds, the first microscopic observations of microorganisms in the seventeenth century, the refutation of the abiogenesis theory, and the dissolution of the question "What is the nature of infectious diseases?" that the first milestones within the history of antibiotics research were set...
October 15, 2016: Current Topics in Microbiology and Immunology
Long Pan, Yi-Tao Liu, Xu-Ming Xie, Xiong-Ying Ye
To obtain 2D materials with large quantity, low cost, and little pollution, liquid-phase exfoliation of their bulk form in water is a particularly fascinating concept. However, the current strategies for water-borne exfoliation exclusively employ stabilizers, such as surfactants, polymers, or inorganic salts, to minimize the extremely high surface energy of these nanosheets and stabilize them by steric repulsion. It is worth noting, however, that the remaining impurities inevitably bring about adverse effects to the ultimate performances of 2D materials...
October 6, 2016: Small
Jara E Jonker, Eryn T Liem, Nynke J Elzenga, Bouwe Molenbuur, Monika Trzpis, Paul M A Broens
OBJECTIVE: To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. STUDY DESIGN: We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major...
September 26, 2016: Journal of Pediatrics
A Kuna, M Bykowska, N Kulawiak, B Biernat, B Szostakowska, W L Nahorski, W Pawlowski, L Chomicz
BACKGROUND & OBJECTIVES: Dengue is a mosquito-borne viral disease, incidences of which have increased rapidly in the past decade. About 400 million new infections are recorded annually worldwide, and 40% of the human population lives in the areas at risk of dengue transmission. In this study, the clinical and laboratory profile of dengue diagnosed patients returning to Poland from tropical areas has been analyzed. METHODS: This is a retrospective study of 65 patients based on clinical symptoms and serological tests conducted in the Department of Tropical Parasitology of Institute of Maritime and Tropical Medicine (IMTM) in Gdynia, Poland during 2010-15...
July 2016: Journal of Vector Borne Diseases
David S Cram, Daixing Zhou
With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients...
August 2016: Intractable & Rare Diseases Research
Terje Svingen, Niels Lund Hansen, Camilla Taxvig, Anne Marie Vinggaard, Udo Jensen, Peter Have Rasmussen
Mycotoxins are fungi-born metabolites that can contaminate foods through mould-infected crops. They are a significant food/feed-safety issue across the globe and represent a substantial financial burden for the world economy. Moreover, with a changing climate and fungal biota, there is now much discussion about emerging mycotoxins that are measurable at significant levels in crops world-wide. Unfortunately, we still know very little about the bioavailability and toxic potentials of many of these less characterized mycotoxins, including the large family of enniatins...
September 15, 2016: Environmental Toxicology
Anh T Quach, Tamas Revay, Daniel A F Villagomez, Mariana P Macedo, Alison Sullivan, Laurence Maignel, Stefanie Wyss, Brian Sullivan, W Allan King
BACKGROUND: Structural chromosome abnormalities are well known as factors that reduce fertility rate in domestic pigs. According to large-scale national cytogenetic screening programs that are implemented in France, it is estimated that new chromosome abnormalities occur at a rate of 0.5 % in fertility-unproven boars. RESULTS: This work aimed at estimating the prevalence and consequences of chromosome abnormalities in commercial swine operations in Canada. We found pig carriers at a frequency of 1...
2016: Genetics, Selection, Evolution: GSE
Ana L Valenciano, Aaron C Ramsey, Webster L Santos, Zachary B Mackey
Human African trypanosomiasis (HAT) is a lethal, vector-borne disease caused by the parasite Trypanosoma brucei. Therapeutic strategies for this neglected tropical disease suffer from disadvantages such as toxicity, high cost, and emerging resistance. Therefore, new drugs with novel modes of action are needed. We screened cultured T. brucei against a focused kinase inhibitor library to identify promising bioactive compounds. Among the ten hits identified from the phenotypic screen, AZ960 emerged as the most promising compound with potent antiparasitic activity (IC50=120nM) and was shown to be a selective inhibitor of an essential gene product, T...
October 1, 2016: Bioorganic & Medicinal Chemistry
Fatima E Agharbaoui, Ashley C Hoyte, Stefania Ferro, Rosaria Gitto, Maria Rosa Buemi, James R Fuchs, Mamuka Kvaratskhelia, Laura De Luca
Through structure-based virtual screening and subsequent activity assays of selected natural products, Lavendustin B was previously identified as an inhibitor of HIV-1 integrase (IN) interaction with its cognate cellular cofactor, lens epithelium-derived growth factor (LEDGF/p75). In order to improve the inhibitory potency we have employed in silico-based approaches. Particularly, a series of new analogues was designed and docked into the LEDGF/p75 binding pocket of HIV-1 IN. To identify promising leads we used the Molecular Mechanics energies combined with the Generalized Born and Surface Area continuum solvation (MM-GBSA) method, molecular dynamics simulations and analysis of hydrogen bond occupancies...
November 10, 2016: European Journal of Medicinal Chemistry
Leonardo Moerbeck, Vinícius F Vizzoni, Erik Machado-Ferreira, Robson C Cavalcante, Stefan V Oliveira, Carlos A G Soares, Marinete Amorim, Gilberto S Gazêta
Rickettsioses are re-emerging vector-borne zoonoses with a global distribution. Recently, Rickettsia sp. strain Atlantic rainforest has been associated with new human spotted-fever (SF) cases in Brazil, featuring particular clinical signs: eschar formation and lymphadenopathy. These cases have been associated with the tick species, Amblyomma ovale From 2010 until 2015, the Brazilian Health Department confirmed 11 human SF cases in the Maciço de Baturité region, Ceará, Brazil. The present study reports the circulation of Rickettsia spp...
August 1, 2016: Journal of Medical Entomology
Tulin Demir, Selcuk Kilic
Zika virus (ZIKV) is a single-stranded RNA virus in the Flaviviridae family and transmitted to human through infected mosquitos (Aedes aegypti and Aedes albopictus). Virus is closely related with other flaviviruses; dengue virus, yellow fever virus, West Nile virus, and Japanese encephalitis virus phylogenetically. Due to the possible relationship between virus and clinical features including microcephaly, ventricule, and eye deformities, Guillain-Barre syndrome increases the interest on this virus gradually...
November 2016: Folia Microbiologica
V Peyronnet, G Kayem, L Mandelbrot, J Sibiude
OBJECTIVES: Fetus small for gestational age (SGA) screening rate is evaluated around 21,7 % in France. Recommendations were developed to improve the efficiency of ultrasound conducted in the third trimester (T3), because neonatal consequences can be significant. This study aims to evaluate screening of SGA during T3 ultrasound and to describe causes for failure and differences with the recommendations of CNGOF. METHODS: All children born between 2011 and 2012 with a birth weight below the 3rd percentile were included in this observational, retrospective, monocentric study...
September 2016: Gynécologie, Obstétrique & Fertilité
Elissa Rennert-May, Elisabeth Hansen, Toktam Zadeh, Valerie Krinke, Stan Houston, Ryan Cooper
Objectives. Approximately 65 percent of tuberculosis (TB) cases in Canada each year occur from reactivation in foreign-born individuals. Refugees are at high risk after immigration. Routine screening of this population for latent TB infection (LTBI) is generally considered infeasible. We evaluated the outcome of LTBI screening and treatment amongst refugees. Methods. Government-sponsored refugees in Edmonton are seen at the New Canadians' Clinic and screened for TB and LTBI. We reviewed records of patients between 2009 and 2011...
2016: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
Arnaud Cannet, Mohammad Akhoundi, Gregory Michel, Pierre Marty, Pascal Delaunay
Leishmaniasis is a vector-borne disease that is transmitted by sandflies and caused by obligate intracellular protozoa of the genus Leishmania. In the present study, we carried out a screening on the experimental infection of Phlebotomus pernioucus by bioluminescent Leishmania infantum using murine model and artificial feeder. We developed a real-time polymerase chain reaction (RT-PCR)-based method to determine individually the number of Leishmania promastigotes fed by infected flies. Among 1840 new emerged female sand flies, 428 were fed on the infected mice...
July 18, 2016: Memórias do Instituto Oswaldo Cruz
Sakorn Pornprasert, Supansa Saoboontan, Thanatcha Wiengkum
Hemoglobin Constant Spring [Hb CS; α142, Term→Gln (TAA>CAA IN α2)] is often missed by routine laboratory testing, especially in subjects with co-inheritance of β-thalassemia or β-variants. We reported the case of a 1-year-old female with Hb H-CS disease who was born from a father with heterozygous of α-thalassemia-1 Southeast Asian type deletion and a mother with the combination of Hb CS and Hb E [β26 (B8) Glu→Lys, GAG>AAG] trait. A very tiny peak of Hb CS of the mother was easily ignored on the high performance liquid chromatography chromatogram while it was clearly seen on the capillary electrophoresis (CE) electrophoregram...
June 2016: Indian Journal of Hematology & Blood Transfusion
Takahiro Ohnishi, Bongsoo Lim, Natsumi Nojima, Ogasawara Kunitoshi, Shunichi Inagaki, Koji Makitsuru, Mari Sasaki, Kunihiko Nakane, Hiroaki Tsuchioka, Kazumi Horikawa, Maiko Kawabe, Yasutaka Minegishi, Nobuo Miyazaki, Yoshiko Sugita-Konishi
Kudoa septempunctata is the causative agent of a food-borne disease associated with the ingestion of raw olive flounder. As the current qRT-PCR method for its detection is time-consuming, a rapid and simple method is required. Recently, a new real-time loop-mediated isothermal amplification (LAMP) method and an immunochromatography method, whose sensitivities are intended to be compatible with that designated in the official analytical method (10(5) spores/g olive flounder), have been developed. To validate these new methods, we performed an inter-laboratory study across seven laboratories...
2016: Biocontrol Science
Nataliia Burakevych, Christopher Joel Dorman McKinlay, Jane Marie Alsweiler, Trecia Ann Wouldes, Jane Elizabeth Harding
AIM: The study aim was to compare detection of and referral for developmental and emotional problems in a school readiness screening programme (New Zealand Before School Check, B4SC) with that of a comprehensive neurodevelopmental assessment. METHODS: This is a prospective cohort study of children (n = 274) born at risk of neonatal hypoglycaemia and recruited to a follow-up study of neurodevelopmental outcomes at 4.5 years (Children with Hypoglycaemia and their Later Development (CHYLD) Study)...
June 2016: Journal of Paediatrics and Child Health
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