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https://www.readbyqxmd.com/read/28533516/asd-restricted-and-repetitive-behaviors-associated-at-17q21-33-genes-prioritized-by-expression-in-fetal-brains
#1
R M Cantor, L Navarro, H Won, R L Walker, J K Lowe, D H Geschwind
Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP)...
May 23, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28531848/a-systematic-review-and-meta-regression-of-the-prevalence-and-incidence-of-perinatal-depression
#2
REVIEW
C A Woody, A J Ferrari, D J Siskind, H A Whiteford, M G Harris
BACKGROUND: Major Depressive Disorder (MDD) is a leading cause of the disease burden for women of childbearing age, but the burden of MDD attributable to perinatal depression is not yet known. There has been little effort to date to systematically review available literature and produce global estimates of prevalence and incidence of perinatal depression. Enhanced understanding will help to guide resource allocation for screening and treatment. METHODS: A systematic literature review using the databases PsycINFO and PubMED returned 140 usable prevalence estimates from 96 studies...
May 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28530519/does-a-one-size-fits-all-cost-sharing-approach-incentivize-appropriate-medication-use-a-roundtable-on-the-fairness-and-ethics-associated-with-variable-cost-sharing
#3
Jennifer S Graff, Chuck Shih, Thomas Barker, Gabriela Dieguez, Cheryl Larson, Helen Sherman, Robert W Dubois
BACKGROUND: Tiered formularies, in which patients pay copays or coinsurance out-of-pocket (OOP), are used to manage costs and encourage more efficient health care resource use. Formulary tiers are typically based on the cost of treatment rather than the medical appropriateness for the patient. Cost sharing may have unintended consequences on treatment adherence and health outcomes. Use of higher-cost, higher-tier medications can be due to a variety of factors, including unsuccessful treatment because of lack of efficacy or side effects, patient clinical or genetic characteristics, patient preferences to avoid potential side effects, or patient preferences based on the route of administration...
June 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28522808/plasmonics-enhanced-smartphone-fluorescence-microscopy
#4
Qingshan Wei, Guillermo Acuna, Seungkyeum Kim, Carolin Vietz, Derek Tseng, Jongjae Chae, Daniel Shir, Wei Luo, Philip Tinnefeld, Aydogan Ozcan
Smartphone fluorescence microscopy has various applications in point-of-care (POC) testing and diagnostics, ranging from e.g., quantification of immunoassays, detection of microorganisms, to sensing of viruses. An important need in smartphone-based microscopy and sensing techniques is to improve the detection sensitivity to enable quantification of extremely low concentrations of target molecules. Here, we demonstrate a general strategy to enhance the detection sensitivity of a smartphone-based fluorescence microscope by using surface-enhanced fluorescence (SEF) created by a thin metal-film...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28507005/perspective-what-makes-it-so-difficult-to-mitigate-worldwide-anemia-prevalence
#5
Klaus Schümann, Noel W Solomons
Anemia can be related to decreased production or increased loss of erythrocytes, or both, leading to many underlying and often overlapping causes. A largely cereal-based diet with plenty of phytates, polyphenols, and other ligands that inhibit intestinal iron absorption predominated in preindustrial Europe and predominates in present-day developing countries alike. In both situations, we find poor hygienic conditions, which frequently lead to anemia of inflammation. The large number of possible causes and their interaction shows why it is so difficult to mitigate anemia prevalence...
May 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28502643/are-brucellosis-q-fever-and-melioidosis-potential-causes-of-febrile-illness-in-madagascar
#6
Ides Boone, Klaus Henning, Angela Hilbert, Heinrich Neubauer, Vera von Kalckreuth, Denise Myriam Dekker, Norbert Georg Schwarz, Gi Deok Pak, Andreas Krüger, Ralf Matthias Hagen, Hagen Frickmann, Jean Noël Heriniaina, Raphael Rakotozandrindrainy, Jean Philibert Rakotondrainiarivelo, Tsiry Razafindrabe, Benedikt Hogan, Jürgen May, Florian Marks, Sven Poppert, Sascha Al Dahouk
Brucellosis, Q fever and melioidosis are zoonoses, which can lead to pyrexia. These diseases are often under-ascertained and underreported because of their unspecific clinical signs and symptoms, insufficient awareness by physicians and public health officers and limited diagnostic capabilities, especially in low-resource countries. Therefore, the presence of Brucella spp., Coxiella burnetii and Burkholderia pseudomallei was investigated in Malagasy patients exhibiting febrile illness. In addition, we analyzed zebu cattle and their ticks as potential reservoirs for Brucella and C...
May 11, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28490972/intensifying-responsiveness-towards-neglected-intestinal-helminth-infections-in-a-resource-constrained-setting
#7
Khin Thet Wai, Kay Thwe Han, Tin Oo
Neglected intestinal helminth infections afflict the marginalized communities in Asia. Since 2004, growing body of evidence in Myanmar indicated high prevalence of soil-transmitted helminths (STH) infections (30-40%) among school children. Co-existence of STH (23%) with food-borne trematodes was noted among 383 pregnant women in a selected township in 2012-2014 followed by molecular verification of very low prevalence of schistosome infection (<5%) in the same study site in 2016. The success of transmission elimination plans may depend upon sensitive diagnostic tools to detect persistent infections and polyparasitism...
2017: Tropical Medicine and Health
https://www.readbyqxmd.com/read/28490345/post-2015-why-delay-to-seek-healthcare-perceptions-and-field-experiences-from-tb-healthcare-providers-in-northern-malawi-a-qualitative-study
#8
Nathan B W Chimbatata, Chang-Ming Zhou, Chikondi M Chimbatata, Biao Xu
BACKGROUND: Malawi is a low-income country with high Tuberculosis (TB) burden. TB diagnosis delay and untimely initiation of treatment is still a major problem in Malawi which could increase the risk of tuberculosis transmission in the communities. This study investigated factors related to the diagnostic delay of tuberculosis from TB healthcare providers in the northern region of Malawi. METHODS: Nine focus group discussions were conducted with 57 participants in total...
May 11, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28487054/reduced-cost-chlamydia-trachomatis-specific-multiplex-real-time-pcr-diagnostic-assay-evaluated-for-ocular-swabs-and-use-by-trachoma-research-programmes
#9
Robert Butcher, Jo Houghton, Tamsyn Derrick, Athumani Ramadhani, Beatriz Herrera, Anna R Last, Patrick A Massae, Matthew J Burton, Martin J Holland, Chrissy H Roberts
INTRODUCTION: Trachoma, caused by the intracellular bacterium Chlamydia trachomatis (Ct) is the leading infectious cause of preventable blindness. Many commercial platforms are available that provide highly sensitive and specific detection of Ct DNA. However, the majority of these commercial platforms are inaccessible for population-level surveys in resource-limited settings typical to trachoma control programmes. We developed two low-cost quantitative PCR (qPCR) tests for Ct using readily available reagents on standard real-time thermocyclers...
May 6, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28475117/a-label-free-quantitative-fecal-hemoglobin-detection-platform-for-colorectal-cancer-screening
#10
Gita V Soraya, Thanh C Nguyen, Chathurika D Abeyrathne, Duc H Huynh, Jianxiong Chan, Phuong D Nguyen, Babak Nasr, Gursharan Chana, Patrick Kwan, Efstratios Skafidas
The early detection of colorectal cancer is vital for disease management and patient survival. Fecal hemoglobin detection is a widely-adopted method for screening and early diagnosis. Fecal Immunochemical Test (FIT) is favored over the older generation chemical based Fecal Occult Blood Test (FOBT) as it does not require dietary or drug restrictions, and is specific to human blood from the lower digestive tract. To date, no quantitative FIT platforms are available for use in the point-of-care setting. Here, we report proof of principle data of a novel low cost quantitative fecal immunochemical-based biosensor platform that may be further developed into a point-of-care test in low-resource settings...
May 5, 2017: Biosensors
https://www.readbyqxmd.com/read/28457932/the-role-of-conventional-myelography-in-the-diagnosis-and-treatment-of-degenerative-spine-diseases-in-low-income-communities-a-prospective-study
#11
David Kitya, Maria Punchak, Francis Bajunirwe
INTRODUCTION: Chronic back pain is a common problem and imaging is crucial for effective diagnosis and treatment. In low-resource settings conventional myelography is a cheap alternative to MRI and CT. This study was conducted to re-examine the diagnostic reliability, effectiveness for surgical decision making and safety of conventional myelography. METHODS: The study was conducted at Tenwek Mission Hospital during June 2009 and March 2010. New patients who presented with features of radiculopathy and/or myelopathy were eligible...
April 27, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28451004/-thymic-neuroendocrine-tumor-about-a-case-and-review-of-the-literature
#12
Andriatsihoarana Voahary Nasandratriniavo Ramahandrisoa, Nomeharisoa Rodrigue Emile Hasiniatsy, Valéry Refeno, Clairette Raharisolo Vololonantenaina, Andriamihaja Jean Claude Rakotoarisoa, Hanitrala Jean Louis Rakotovao, Florine Rafaramino
Thymic neuroendocrine tumors (TNET) are rare, with little-known prognosis. This study aims to report a case of TNET and to highlight the diagnostic and therapeutic difficulties in low-resource settings. A 60-year-old man presented with chest pain, greasy cough and recent weight loss. Chest CT scan showed anterior mediastinal tissue mass. Histologic evaluation of a 4 months-biopsy specimen obtained from anterior mediastinotomy showed a well differentiated TNET, labeled intensely positive for chromogranin and synaptophysin...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#13
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28447421/clinical-decision-support-for-hematology-laboratory-test-utilization
#14
REVIEW
R Jackups, J J Szymanski, S P Persaud
Clinical decision support (CDS) is the use of information and communication technologies to improve clinical decision making and patient care. CDS applications have been used in many aspects of health care, including medication ordering and diagnostic prediction algorithms. As economic and regulatory pressures place a strain on laboratory resources, the potential of CDS to improve utilization of laboratory testing has also begun to be realized. Hematology and coagulation laboratories stand to gain tremendously from the implementation of CDS interventions, given their mixture of high-volume, low-cost tests (eg CBC, PT, aPTT) and tests that carry a high potential of being misused or misinterpreted (eg lupus anticoagulant, erythrocyte sedimentation rate, heparin-induced thrombocytopenia testing)...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28442456/the-malaria-system-microapp-a-new-mobile-device-based-tool-for-malaria-diagnosis
#15
Allisson Dantas Oliveira, Clara Prats, Mateu Espasa, Francesc Zarzuela Serrat, Cristina Montañola Sales, Aroa Silgado, Daniel Lopez Codina, Mercia Eliane Arruda, Jordi Gomez I Prat, Jones Albuquerque
BACKGROUND: Malaria is a public health problem that affects remote areas worldwide. Climate change has contributed to the problem by allowing for the survival of Anopheles in previously uninhabited areas. As such, several groups have made developing news systems for the automated diagnosis of malaria a priority. OBJECTIVE: The objective of this study was to develop a new, automated, mobile device-based diagnostic system for malaria. The system uses Giemsa-stained peripheral blood samples combined with light microscopy to identify the Plasmodium falciparum species in the ring stage of development...
April 25, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28437795/effect-of-using-the-heart-score-in-patients-with-chest-pain-in-the-emergency-department-a-stepped-wedge-cluster-randomized-trial
#16
Judith M Poldervaart, Johannes B Reitsma, Barbra E Backus, Hendrik Koffijberg, Rolf F Veldkamp, Monique E Ten Haaf, Yolande Appelman, Herman F J Mannaerts, Jan-Melle van Dantzig, Madelon van den Heuvel, Mohamed El Farissi, Bernard J W M Rensing, Nicolette M S K J Ernst, Ineke M C Dekker, Frank R den Hartog, Thomas Oosterhof, Ghizelda R Lagerweij, Eugene M Buijs, Maarten W J van Hessen, Marcel A J Landman, Roland R J van Kimmenade, Luc Cozijnsen, Jeroen J J Bucx, Clara E E van Ofwegen-Hanekamp, Maarten-Jan Cramer, A Jacob Six, Pieter A Doevendans, Arno W Hoes
Background: The HEART (History, Electrocardiogram, Age, Risk factors, and initial Troponin) score is an easy-to-apply instrument to stratify patients with chest pain according to their short-term risk for major adverse cardiac events (MACEs), but its effect on daily practice is unknown. Objective: To measure the effect of use of the HEART score on patient outcomes and use of health care resources. Design: Stepped-wedge, cluster randomized trial...
May 16, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28427352/point-of-sampling-detection-of-zika-virus-within-a-multiplexed-kit-capable-of-detecting-dengue-and-chikungunya
#17
Ozlem Yaren, Barry W Alto, Priyanka V Gangodkar, Shatakshi R Ranade, Kunal N Patil, Kevin M Bradley, Zunyi Yang, Nikhil Phadke, Steven A Benner
BACKGROUND: Zika, dengue, and chikungunya are three mosquito-borne viruses having overlapping transmission vectors. They cause diseases having similar symptoms in human patients, but requiring different immediate management steps. Therefore, rapid (< one hour) discrimination of these three viruses in patient samples and trapped mosquitoes is needed. The need for speed precludes any assay that requires complex up-front sample preparation, such as extraction of nucleic acids from the sample...
April 20, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28420399/distinct-parasite-populations-infect-individuals-identified-through-passive-and-active-case-detection-in-a-region-of-declining-malaria-transmission-in-southern-zambia
#18
Kelly M Searle, Ben Katowa, Tamaki Kobayashi, Mwiche N S Siame, Sungano Mharakurwa, Giovanna Carpi, Douglas E Norris, Jennifer C Stevenson, Philip E Thuma, William J Moss
BACKGROUND: Substantial reductions in the burden of malaria have been documented in parts of sub-Saharan Africa, with elimination strategies and goals being formulated in some regions. Within this context, understanding the epidemiology of low-level malaria transmission is crucial to achieving and sustaining elimination. A 24 single-nucleotide-polymorphism Plasmodium falciparum molecular barcode was used to characterize parasite populations from infected individuals identified through passive and active case detection in an area approaching malaria elimination in southern Zambia...
April 19, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28419213/risks-factors-for-congenital-cmv-infection-following-primary-and-non-primary-maternal-infection-a-prospective-neonatal-screening-study-using-pcr-in-saliva
#19
Marianne Leruez-Ville, Jean-François Magny, Sophie Couderc, Christine Pichon, Marine Parodi, Laurence Bussières, Tiffany Guilleminot, Idir Ghout, Yves Ville
Background: The design of diagnostic and preventive strategies have been prevented by gaps in knowledge of the epidemiology of congenital CMV (cCMV) with the type of maternal infection as well as the lack of large-scale neonatal screening tools. Methods: 11,715 consecutive newborns were screened for cCMV by PCR in saliva. Prevalence, type of maternal infection, socio-demographic, obstetrical and serological data were analyzed. Results: Positive predictive value of CMV PCR in saliva was 59%, false positive results were associated with lower viral loads (p<0...
April 17, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28411630/an-immunochromatographic-assay-for-carcinoembryonic-antigen-on-cotton-thread-using-a-composite-of-carbon-nanotubes-and-gold-nanoparticles-as-reporters
#20
Xiaobo Jia, Tingting Song, Yan Liu, Lili Meng, Xun Mao
This paper describes a low-cost, sensitive, visual and rapid immunochromatographic assay method on cotton thread for carcinoembryonic antigen (CEA) detection by using novel carbon nanotube/gold nanoparticles (CNT/GNPs) nanocomposite reporter probe. CEA, a lung cancer protein biomarker, was used as analyte to demonstrate the principle of the immunochromatographic assay on cotton thread biosensor. In the presence of target CEA, the decreasing aggregation amount of CNT/GNPs nanocomposite reporter probes on the test zone induced directly readout by naked eye...
May 29, 2017: Analytica Chimica Acta
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