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Mapping of quantitative trait loci using the skew-normal distribution

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2007年第11期8卷 792-801页

作者： FERNANDES Elisabete PACHECO António PENHA-gONalves Carlos Centre for Mathematics and Its Applications IST-Technical University of Lisbon1049-001 LisboaPortugal Department of Statistics and Operational ResearchFaculty of SciencesUniversity of Lisbon1749-016 LisboaPortugal Gulbenkian Institute of ScienceP-2781-901 OeirasPortugal Department of Mathematics and Centre for Mathematics and Its Applications IST-Technical University of Lisbon1049-001 LisboaPortugal gulbenkian Institute of Science P-2781-901 OeirasPortugal

In standard interval mapping (IM) of quantitative trait loci (QTL), the QTL effect is described by a normal mixture model. When this assumption of normality is violated, the most commonly adopted strategy is to use the previous model after data transformation. However, an appropriate transformation may not exist or may be difficult to find. Also this approach can raise interpretation issues. An interesting alternative is to consider a skew-normal mixture model in standard IM, and the resulting method is here denoted as skew-normal IM. This flexible model that includes the usual symmetric normal distribution as a special case is important, allowing continuous variation from normality to non-normality. In this paper we briefly introduce the main peculiarities of the skew-normal distribution. The maximum likelihood estimates of parameters of the skew-normal distribution are obtained by the expectation-maximization (EM) algorithm. The proposed model is illustrated with real data from an intercross experiment that shows a significant departure from the normality assumption. The performance of the skew-normal IM is assessed via stochastic simulation. The results indicate that the skew-normal IM has higher power for QTL detection and better precision of QTL location as compared to standard IM and nonparametric IM.

关键词：区间映射数量性状期望最大值算法分布状况

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Evaluation of parasitemia by qPCR in patients with chronic Chagas disease treated with benznidazole

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Asian Pacific Journal of Tropical Medicine 2023年第12期16卷 565-572页

作者： Tycha Bianca Sabaini Pavan Eros Antônio de Almeida Rodrigo gonçalves de Lima Jamiro da Silva Wanderley Luiz Cláudio Martins Sandra Cecília Botelho Costa gláucia Elisete Barbosa Marcon Departamento de Clínica Médica Faculdade de Ciências MédicasUniversidade Estadual de Campinas(Unicamp)CampinasSão PauloBrasil Fundação Oswaldo Cruz Fiocruz Mato Grosso do SulCampo GrandeMSBrasil

Objective:To evaluate parasitemia by qPCR in patients undergoing etiological treatment and followed in a Brazilian reference ***:Parasite load was quantified by qPCR in 32 participants with chronic Chagas disease who were treated with *** analyses were performed before and after the treatment and parasite loads were compared prior and 12/18 months post the ***:Thirty-two participants were recruited and treated with benznidazole,and 20 were *** events(AE)were observed in 22 out of 29 participants that had safety data(76%),and dermatological alterations were the most frequently observed *** the 20 participants analyzed,13 and 7 completed 12 and 18 months follow-up after the treatment,respectively.12 Months after the final treatment,Trypanosoma cruzi was detectable in 3 patients by qPCR;18 months after the final treatment,Trypanosoma cruzi was detectable per qPCR in 4 of the 7 ***,between 12 and 18 months,7 participants of the 20 initial follow-up cases showed positive qPCR,indicating treatment ***:qPCR can be used as an alternative method for evaluating the effectiveness of the etiological treatment of CD,and can be applied to analyze early therapeutic *** study showed that benznidazole therapy had limited effectiveness in treating chronic CD patients,thus emphasizing the importance of conducting continued research for developing more effective therapies and diagnosis for CD.

关键词： Trypanosoma cruzi Chagas disease Antitrypanosomal therapy Benznidazole qPCR Therapeutic failure

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Non-pharmacological intervention for posterior cortical atrophy

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World Journal of Clinical Cases 2016年第8期4卷 195-201页

作者： Agnès Weill--Chounlamountry Jorge alves Pascale Pradat--Diehl Département de Médecine Physique et de Réadaptation AP-HP H?pitaux Pitié-Salpêtrière Charles Foix gRC-UPMC Handicap Cognitif et Réadaptation Center for Evidence-Based Neuro Rehabilitation CEREBRO-Brain Health Center Laboratoire d’Imagerie Biomédicale (LIB) Inserm U1146 Sorbonne Universités UPMC UMCR2-CNRS UMR7371

Posterior cortical atrophy(PCA) is a rare neurodegene-rative condition characterized by progressive visual-perceptual deficits. Although the neurocognitive profile of PCA is a growing and relatively well-established field, non-pharmacological care remains understudied and to be widely established in clinical practice. In the present work we review the available literature on non-pharmacological approaches for PCA, such as cognitive rehabilitation including individual cognitive exercises and compensatory techniques to improve autonomy in daily life, and psycho-education aiming to inform people with PCA about the nature of their visual deficits and limits of cognitive rehabilitation. The reviewed studies represented a total of 7 patients. There is a scarcity of the number of studies, and mostly consisting of case studies. Results suggest non-pharmacological intervention to be a potentially beneficial approach for the partial compensation of deficits, improvement of daily functionality and improvement of quality of life. Clinical implications and future directions are also highlighted for the advancement of the field, in order to clarify the possible role of non-pharmacological interventions, and its extent, in PCA.

关键词： Cognitive rehabilitation Posterior cortical atrophy Alzheimer’s disease Non-pharmacological intervention Neuropsychological rehabilitation

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Finite Difference Method Applied in Two-Dimensional Heat Conduction Problem in the Permanent Regime in Rectangular Coordinates

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Advances in Pure Mathematics 2022年第9期12卷 505-518页

作者： Vânia gonçalves de Brito dos Santos Paula Tamires gomes dos Anjos Departamento de Ciências Exatas e da Terra Universidade do Estado da Bahia (UNEB) Salvador Brazil Centro Educacional Expoente (CEDEX) Brasília Brazil

The solution of many conduction heat transfer problems is found by two-dimensional simplification using the analytical method since different points have different initial temperatures. The temperature at each point of a given element can be analyzed through the Heat Equation that, in some cases, converges to analytical solutions without precision and is far from the real. However, with the application of the Finite Difference Method (FDM), it is possible to solve it numerically in a relatively fast way, providing satisfactory results for the most varied boundary conditions and diverse geometries, characteristics of heat transfer problems by conduction. This study solved two problems inside a plate with and without heat generation involved in temperature distribution. Algorithms were built with the aid of the Matlab programming language, and applied to obtain a numerical solution using the FDM numerical method. The computational and analytical solutions were then compared. Under certain conditions of the parameters involved in the phenomenon of each problem, the numerical method was very efficient for presenting errors less than or equal to 0.003 and 0.03, respectively, for cases without and with heat generation.

关键词： Heat Transfer Conduction Finite Difference Method Numerical Method Matlab

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Comparative acute effects of l-carnitine and dl-carnitine on hepatic catabolism of l-alanine and l-glutamine in rats

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Acta Pharmacologica Sinica 2004年第10期 17-21页

作者： gisele LOPES,Vilma A F g gAZOLA,Sharize B gALENDE,Wilson alves-DO-PRADO,Rui CURI,Roberto B BAZOTTE CNPq fellowship Maringd PR 87020-900 State University of Maringd Maringd PR 87020-900 CNPq fellowship Maringa PR 87020-900 State University of Maringá Maringá PR 87020-900 "University of Sao Paulo Sao Paulo SP 05508-900 Brazil

AIM: To compare the acute effects of l-carnitine (LCT) and dl-carnitine (DLC) on hepatic catabolism of l-alanine and l-glutamine in rats. METHODS: Livers from 24 h fasted and fed rats were perfused in situ. The substrates l-alanine (5 mmol/L) and l-glutamine (5 mmol/L) were employed. The gluconeogenic and ureogenic activity was measured as the difference between the rates of glucose and urea released during and before the infusion of l-glutamine or l-alanine. RESULTS: LCT (60 umol/L) but not DLC (60 umol/L and 120 umol/L) increased the production of glucose and urea from l-glutamine. However, neither LCT (60 umol/L and 120 umol/L) nor DLC (60 umol/L and 240 μmol/L) showed any significant effect on hepatic glucose and urea production from l-alanine. CONCLUSION: The results showed a different acute effect of LCT and DLC on the activation of hepatic gluco-neogenesis and ureagenesis promoted by l-glutamine, reinforcing the idea that DLC could not replace LCT.

关键词： carnitine liver metabolism gluconeogenesis ureagenesis l-glutamine

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Association of SUMO4 Met55Val Variation with Increased Insulin Resistance in Newly Diagnosed Type 2 Diabetes in a Chinese Population

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2011年第3期31卷 306-311页

作者：季振中代喆黄艳 Hedson alves Martins 徐焱成 Department of Endocrinology Zhongnan Hospital of Wuhan University

SUMO4 Met55Val variation was shown to be related to type 2 diabetes susceptibility and the vascular complications in Asian *** further examine the related mechanisms,this study was designed to evaluate the association of SUMO4 Met55Val polymorphism with insulin resistance and β cell function in newly diagnosed type 2 diabetic patients in a Chinese *** hundred and twenty seven newly diagnosed type 2 diabetic patients were selected for SUMO4 Met55Val polymorphism genotype *** subjects underwent a 75-g oral glucose tolerance test（OgTT） to estimate the insulin sensitivity and β cell *** and a metabolic profile were used for phenotyping *** results showed that the SUMO4 Met55Val polymorphism was associated with higher insulin resistance（P0.001） and lower insulin sensitivity（P0.001）.Patients with gg genotype had higher levels of plasma glucose,insulin and C *** sensitivity index（ISI） was closely correlated with body mass index（BMI） in patients with gg genotype in comparison to the counterparts with Ag or AA genotype（r=-0.504 vs.r=-0.430 vs.r=-0.340）.Multiple regression linear analysis showed that SUMO4 Met55Val polymorphism was an independent determinant for insulin sensitivity（P=0.001）,which,along with triglyceride,BMI and sex,could account for 20.1% of the variation in *** result remained the same after adjusting for BMI and *** association was found between SUMO4 Met55Val polymorphism and β cell function（all P0.05）.It was concluded that SUMO4 Met55Val variant was associated with increased insulin resistance in Chinese patients with newly diagnosed type 2 diabetes.

关键词： SUMO4 type 2 diabetes insulin resistance

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Augmented reality system to assist inexperienced pool players

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Computational Visual Media 2016年第2期2卷 183-193页

作者： L.Sousa R.alves J.M.F.Rodrigues LARSy S and Institute of Engineering University of the Algarve LARSy S CIAC and Institute of Engineering University of the Algarve

Pool and billiards are amongst a family of games played on a table with six pockets along the rails. This paper presents an augmented reality tool designed to assist unskilled or amateur players of such games. The system is based on a projector and a Kinect 2 sensor placed above the table, acquiring and processing the game on-the-fly. By using depth information and detecting the table's rails(borders),the balls' positions, the cue direction, and the strike of the ball, computations predict the resulting balls' trajectories after the shot is played. These results—trajectories, visual effects, and menus—are visually output by the projector, making them visible on the snooker table. The system achieves a shot prediction accuracy of 98% when no bouncing occurs.

关键词： computer vision augmented reality(AR) Kinect pool game

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Developing and validating a nestling photographic aging guide for cavity-nesting birds: an example with the European Bee-eater(Merops apiaster)

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Avian Research 2020年第1期11卷 57-64页

作者： Joana S.Costa Afonso D.Rocha Ricardo A.Correia Jose A.alves Department of Biology&CESAM University of AveiroCampus Universitario de Santiago3810-193 AveiroPortugal Institute of Biological and Health Sciences(ICBS) Federal University of AlagoasMaceioALBrazil University of Iceland South Iceland Research CentreLindarbraut 4840 LaugarvatnIceland

Background: Accurate estimation of nestlings’ age is essential in avian demography studies as well as in population ecology and conservation. For example, it can be useful for synchronizing nest visits with events of particular interest, such as the age at which young can be safely ringed, or in choosing the best period to attain the most accurate calculation of laying or hatching ***: We constructed a photographic guide for aging European Bee-eaters(Merops apiaster) nestlings to 3-day age classes and evaluated the aging method by performing a validation exercise with several observers with no previous experience in aging bee-eater ***: The aging guide for bee-eater nestlings allowed estimating age to within 3 days with an average accuracy of 0.85. We found the optimal period for aging nestlings was between days 13-18(with accuracy between 0.94 and 0.99), during which the status of feather development was more easily distinguishable from the preceding and subsequent age classes. During the first 3 days after hatching, nestlings could also be aged with high accuracy(0.93). The small size of the nestling in relation to the eggs and the nestling’s inability to raise its head during these first days allowed for good discrimination from the subsequent age class. Between days 25 and 28, nestlings were correctly aged in only half of assignments(0.55 sensitivity) and nestlings belonging to class 7(days 7-9) were the least correctly identified(0.38 sensitivity). However, by visiting the nests at 12 days intervals it is possible to achieve the highest accuracy in age estimation with the smallest disturbance and logistic ***: This study highlighted how indirect methods and a simple protocol can be established and employed to quickly estimate nestling age in cases where handling nestlings is challenging or impossible, while minimizing disturbance in and around the nest.

关键词： Age estimation Chick development Feather growth Image guide Nest visit Plumage colour

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Functional and structural changes in internal pudendal arteries underlie erectile dysfunction induced by androgen deprivation

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Asian Journal of Andrology 2017年第5期19卷 526-532页

作者： Rheure alves-Lopes Karla B Neves Marcondes AB Silva Vania C Olivon Silvia g Ruginsk Jose Antunes-Rodrigues Leandra NZ Ramalho Rita C Tostes Fernando Silva Carneiro Department of Pharmacology Ribeirao Preto Medical School University of Sao Paulo Ribeirao Preto SP Brazil Department of Physics and Chemistry Faculty of Pharmaceutical Sciences of Ribeirao Preto University of Sao Paulo Ribeirao Preto SP Brazil Department of Physiological Sciences Biomedical Sciences InstituteFederal University of Alfenas Alfenas MG Brazil Department of Physiology Ribeirao Preto Medical School University of Sao Paulo Ribeirao Preto SP Brazil Department of Pathology and Legal Medicine Ribeirao Preto Medical School University of Sao Paulo Ribeirao Preto SP Brazil

Androgen deficiency is strongly associated with erectile dysfunction （ED）. Inadequate penile arterial blood flow is one of the major causes of ED. The blood flow to the corpus cavernosum is mainly derived from the internal pudendal arteries （IPAs）; however, no study has evaluated the effects of androgen deprivation on IPA＇s function. We hypothesized that castration impairs IPAs reactivity and structure, contributing to ED. In our study, Wistar male rats, 8-week-old, were castrated and studied 30 days after orchiectomy. Functional and structural properties of rat IPAs were determined using wire and pressure myograph systems, respectively. Protein expression was determined by Western blot and immunohistochemistry. Plasma testosterone levels were determined using the IMMULITE 1000 Immunoassay System. Castrated rats exhibited impaired erectile function, represented by decreased intracavernosal pressure/mean arterial pressure ratio. IPAs from castrated rats exhibited decreased phenylephrine- and electrical field stimulation （EFS）-induced contraction and decreased acetylcholine- and EFS-induced vasodilatation. IPAs from castrated rats exhibited decreased internal diameter, external diameter, thickness of the arterial wall, and cross-sectional area. Castration decreased nNOS and α-actin expression and increased collagen expression, p38 （Thr180/ryr182） phosphorylation, as well as caspase 3 cleavage. In conclusion, androgen deficiency is associated with impairment of IPA reactivity and structure and increased apoptosis signaling markers. Our findings suggest that androgen deficiency-induced vascular dysfunction is an event involving hypotrophic vascular remodeling of IPAs.

关键词： androgen castration internal pudendal artery

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Albumin administration in patients with cirrhosis: Current role and novel perspectives

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World Journal of gastroenterology 2022年第33期28卷 4773-4786页

作者： Angelo Zambam de Mattos Douglas Alano Simonetto Carlos Terra Alberto Queiroz Farias Paulo Lisboa Bittencourt Tales Henrique Soares Pase Marlon Rubini Toazza Angelo alves de Mattos Alliance of Brazilian Centers for Cirrhosis Care-the ABC group graduate Program in Medicine:Hepatology Federal University of Health Sciences of Porto AlegrePorto Alegre 90050-170Brazil Division of gastroenterology and Hepatology Mayo ClinicRochesterMN 55902United States Department of gastroenterology State University of Rio de JaneiroRio de Janeiro 20550-170Brazil Department of gastroenterology University of São PauloSão Paulo 01246-903Brazil gastroenterology and Hepatology Unit Hospital PortuguêsSalvador 40130-030Brazil Internal Medicine Unit Irmandade Santa Casa de Misericórdia de Porto AlegrePorto Alegre 90020-090Brazil gastroenterology and Hepatology Unit Irmandade Santa Casa de Misericórdia de Porto AlegrePorto Alegre 90020-090Brazil 不详

Mortality in cirrhosis is mostly associated with the development of clinical decompensation,characterized by ascites,hepatic encephalopathy,variceal bleeding,or ***,it is important to prevent and manage such ***,the pathophysiology of decompensated cirrhosis was explained by the peripheral arterial vasodilation hypothesis,but it is currently understood that decompensation might also be driven by a systemic inflammatory state(the systemic inflammation hypothesis).Considering its oncotic and nononcotic properties,albumin has been thoroughly evaluated in the prevention and management of several of these decompensating *** are formal evidence-based recommendations from international medical societies proposing that albumin be administered in individuals with cirrhosis undergoing large-volume paracentesis,patients with spontaneous bacterial peritonitis,those with acute kidney injury(even before the etiological diagnosis),and those with hepatorenal ***,there are a few randomized controlled trials and meta-analyses suggesting a possible role for albumin infusion in patients with cirrhosis and ascites(long-term albumin administration),individuals with hepatic encephalopathy,and those with acute-on-chronic liver failure undergoing modest-volume *** studies are necessary to elucidate whether albumin administration also benefits patients with cirrhosis and other complications,such as individuals with extraperitoneal infections,those hospitalized with decompensated cirrhosis and hypoalbuminemia,and patients with hyponatremia.

关键词： Cirrhosis Albumin Paracentesis Spontaneous bacterial peritonitis Acute kidney injury Hepatorenal syndrome

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