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https://www.readbyqxmd.com/read/29334417/combining-allele-frequency-and-tree-based-approaches-improves-phylogeographic-inference-from-natural-history-collections
#1
M Ruffley, M L Smith, A Espíndola, B C Carstens, J Sullivan, D C Tank
Model selection approaches in phylogeography have allowed researchers to evaluate the support for competing demographic histories, which provides a mode of inference and a measure of uncertainty in understanding climatic and spatial influences on intraspecific diversity. Here, to rank all models in the comparison set, and determine what proportion of the total support the top-ranked model garners, we conduct model selection using two analytical approaches -allele frequency-based, implemented in fastsimcoal2, and gene tree-based, implemented in PHRAPL...
January 15, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29333908/false-positive-acetylcholine-receptor-antibodies-in-a-case-of-unilateral-chronic-progressive-external-ophthalmoplegia-case-report-and-review-of-literature
#2
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato, Aidan Murray
METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis...
January 15, 2018: Orbit
https://www.readbyqxmd.com/read/29333857/active-site-revealed-for-water-oxidation-on-electrochemically-induced-%C3%AE-mno2-role-of-spinel-to-layer-phase-transition
#3
Yefei Li, Zhi-Pan Liu
Seeking for active MnOx material as artificial water splitting catalyst has been a long history since the discovery of PSII system in Nature. To date, the highest activity MnOx catalyst reported for oxygen evolution reaction (OER) is however not common MnO2 polymorphs (α-, β-, δ-MnO2), but nascent δ-MnO2 layer produced in situ from spinel under electrochemical conditions with unknown active site structure. Here with the stochastic surface walking (SSW) pathway sampling method, we for the first time resolve the atomic-level mechanism of spinel-to-layer Mn3O4 solid phase transition in aqueous electrolyte...
January 15, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29333065/hepatitis-c-infection-in-patients-with-hereditary-bleeding-disorders-epidemiology-natural-history-and-management
#4
REVIEW
Nikolaos Papadopoulos, Vasiliki Argiana, Melanie Deutsch
Hereditary bleeding disorders include a group of diseases with abnormalities of coagulation. Prior to 1990, infection with hepatitis C virus (HCV) was mainly transmitted via pooled plasma products as a treatment for hereditary bleeding disorders. Anti-HCV positivity in these patients may be as high as >70% in some areas, while some of them have also been coinfected with human immunodeficiency virus. Since about 20% of HCV-infected patients clear the infection naturally, chronic HCV infection represents a significant health problem in this group of patients...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332071/clinical-presentation-and-prognosis-of-common-movement-disorders
#5
Jennifer Han, Samay Jain
Great progress has been made in expanding our understanding of the natural history of movement disorders, leading to impressive advancements in their medical and surgical management. Movement disorders are a diverse group of diseases, varying widely in clinical characteristics and evolution. Some are monosymptomatic while others have associated motor and nonmotor features. Some are static while others follow a progressive course. This chapter will review common primary and secondary movement disorders: Parkinson disease and other forms of Parkinsonism, essential tremor and its differential diagnoses, dystonia and tic disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331740/development-and-validation-of-a-new-population-based-simulation-model-of-osteoarthritis-in-new-zealand
#6
Ross Wilson, J Haxby Abbott
OBJECTIVE: To describe the construction and preliminary validation of a new population-based microsimulation model developed to analyse the health and economic burden and cost-effectiveness of treatments for knee osteoarthritis (OA) in New Zealand (NZ). METHOD: We developed the New Zealand Management of Osteoarthritis (NZ-MOA) model, a discrete-time state-transition microsimulation model of the natural history of radiographic knee OA. In this article, we report on the model structure, derivation of input data, validation of baseline model parameters against external data sources, and validation of model outputs by comparison of the predicted population health loss with previous estimates...
January 10, 2018: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/29331332/hiv-infection-and-its-effects-on-the-development-of-autoimmune-disorders
#7
REVIEW
Luis E Vega, Luis R Espinoza
More than 35 years have elapsed since the initial outbreak of the HIV/AIDS epidemic and the status of a considerable number of patients has changed from a fatal disorder to a chronic one where comorbidities including sarcoidosis and autoimmune diseases have become relevant and dominant. HIV targets the immune system leading to a state of immunodeficiency in a setting of immune activation in which CD4+ T cell depletion plays a critical role. The onset, natural history and course of HIV-associated autoimmune disease has dramatically changed according to the stage of HIV infection and since the introduction of combined anti-retroviral therapy...
January 10, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29330279/rare-cause-of-isolated-severe-coagulation-failure-in-cirrhosis-traditional-healing-with-fenugreek
#8
Cyriac A Philips, Philip Augustine
Patients with cirrhosis develop decompensation events during the natural history of the disease that encompass ascites, variceal bleeding, hepatic encephalopathy and jaundice. Coagulation failure, defined using the international normalised ratio, even though not a decompensation event, is important in patients with stratifying cirrhosis into those who require liver transplantation for long-term survival. Isolated coagulation failure in cirrhosis is rare and usually occurs with use of anticoagulants in the setting of vascular diseases...
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#9
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329313/development-of-a-field-testing-protocol-for-identifying-deepwater-horizon-oil-spill-residues-trapped-near-gulf-of-mexico-beaches
#10
Yuling Han, T Prabhakar Clement
The Deepwater Horizon (DWH) accident, one of the largest oil spills in U.S. history, contaminated several beaches located along the Gulf of Mexico (GOM) shoreline. The residues from the spill still continue to be deposited on some of these beaches. Methods to track and monitor the fate of these residues require approaches that can differentiate the DWH residues from other types of petroleum residues. This is because, historically, the crude oil released from sources such as natural seeps and anthropogenic discharges have also deposited other types of petroleum residues on GOM beaches...
2018: PloS One
https://www.readbyqxmd.com/read/29328940/first-trimester-serum-biomarkers-to-predict-gestational-diabetes-in-a-high-risk-cohort-striving-for-clinically-useful-thresholds
#11
Siobhan M Corcoran, Natalie Achamallah, John O' Loughlin, Philip Stafford, Pat Dicker, Fergal D Malone, Fionnuala Breathnach
OBJECTIVES: Screening and diagnosis of gestational diabetes (GDM) has been a source of controversy. The prevalence has increased in line with an obesity epidemic and a trend towards delayed child-bearing. Treatment of even modest glycaemic impairment in pregnancy has been shown to be beneficial in preventing its clinical sequalae. However the cumbersome nature and timing of the oral glucose tolerance test coupled with debate around universal versus risk factor based screening have been problematic...
January 1, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29328060/-i-in-vivo-i-neutron-activation-analysis-of-bone-manganese-in-workers
#12
Yingzi Liu, Danelle Rolle-McFarland, Farshad Mostafaei, Yuanzhong Zhou, Yan Li, Wei Zheng, Ellen Wells, Linda Huiling Nie
Manganese (Mn) is a neurotoxicant. However, the impact of elevated, chronic Mn exposure is not well understood, partially due to the lack of a cumulative exposure biomarker. To address this gap, our group developed a compact <i>in vivo</i> neutron activation analysis (IVNAA) system to quantify Mn in bone (MnBn). In this study, we used this system and determined MnBn among male Chinese workers and compared results to their blood Mn (MnB), a measure of recent exposure, and the years of employment, a measure of cumulative exposure...
January 12, 2018: Physiological Measurement
https://www.readbyqxmd.com/read/29327942/efficient-selective-screening-for-heart-failure-in-elderly-men-and-women-from-the-community-a-diagnostic-individual-participant-data-meta-analysis
#13
Rogier F Kievit, Aisha Gohar, Arno W Hoes, Michiel L Bots, Evelien Es van Riet, Yvonne van Mourik, Loes Cm Bertens, Leandra Jm Boonman-de Winter, Hester M den Ruijter, Frans H Rutten
Background Prevalence of undetected heart failure in older individuals is high in the community, with patients being at increased risk of morbidity and mortality due to the chronic and progressive nature of this complex syndrome. An essential, yet currently unavailable, strategy to pre-select candidates eligible for echocardiography to confirm or exclude heart failure would identify patients earlier, enable targeted interventions and prevent disease progression. The aim of this study was therefore to develop and validate such a model that can be implemented clinically...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29327261/chronic-rejection-after-intestinal-transplant-where-are-we-in-order-to-avert-it
#14
REVIEW
Augusto Lauro, Mihai Oltean, Ignazio R Marino
Chronic rejection affects the long-term survival of all solid organ transplants and, among intestinal allografts, occurs in up to 10% of the recipients. The insidious clinical evolution of the chronic allograft enteropathy, the absence of noninvasive biomarkers, and the late endoscopic findings delay its diagnosis. No pharmacological approach has been proven effective, and allograft removal nowadays still represents the only available therapy. The inclusion of the liver in the visceral allograft appears to be the only intervention affecting the development of chronic rejection, as revealed by large-center studies and registry reports...
January 11, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29326879/characteristics-of-26-patients-with-type-3-gaucher-disease-a-descriptive-analysis-from-the-gaucher-outcome-survey
#15
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#16
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326110/contemporary-management-and-outcomes-in-congenitally-corrected-transposition-of-the-great-arteries
#17
REVIEW
Shelby Kutty, David A Danford, Gerhard-Paul Diller, Oktay Tutarel
Congenitally corrected transposition of the great arteries (ccTGA) can occur in isolation, or in combination with other structural cardiac anomalies, most commonly ventricular septal defect, pulmonary stenosis and tricuspid valve disease. Clinical recognition can be challenging, so echocardiography is often the means by which definitive diagnosis is made. The tricuspid valve and right ventricle are on the systemic arterial side of the ccTGA circulation, and are therefore subject to progressive functional deterioration...
January 11, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29325310/-clinical-characteristics-and-whole-exon-sequence-study-of-a-chinese-family-with-autosomal-dominant-lateral-temporal-lobe-epilepsy
#18
C Y Li, H H Yang, R J Lyu, Q Wang
Objective: To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods: The natural history, clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family. Whole exon sequence (WES) analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing...
January 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29324975/strong-population-bottleneck-and-repeated-demographic-expansions-of-populus-adenopoda-salicaceae-in-subtropical-china
#19
Liqiang Fan, Honglei Zheng, Richard I Milne, Lei Zhang, Kangshan Mao
Background and Aims: Glacial refugia and inter-/postglacial recolonization routes during the Quaternary of tree species in Europe and North America are well understood, but far less is known about those of tree species in subtropical eastern Asia. Thus, we have examined the phylogeographic history of Populus adenopoda (Salicaceae), one of the few poplars that naturally occur in this subtropical area. Methods: Genetic variations across the range of the species in subtropical China were surveyed using ten nuclear microsatellite loci and four chloroplast fragments (matK, trnG-psbK, psbK-psbI and ndhC-trnV)...
January 6, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29324816/changes-in-respiratory-and-non-respiratory-symptoms-in-occupants-of-a-large-office-building-over-a-period-of-moisture-damage-remediation-attempts
#20
Ju-Hyeong Park, Sook Ja Cho, Sandra K White, Jean M Cox-Ganser
There is limited information on the natural history of building occupants' health in relation to attempts to remediate moisture damage. We examined changes in respiratory and non-respiratory symptoms in 1,175 office building occupants over seven years with multiple remediation attempts. During each of four surveys, we categorized participants using a severity score: 0 = asymptomatic; 1 = mild, symptomatic in the last 12 months, but not frequently in the last 4 weeks; 2 = severe, symptomatic at least once weekly in the last 4 weeks...
2018: PloS One
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