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Book
A short course in epidemiology
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ISBN: 0881678422 Year: 1992 Publisher: New York : Raven Press,

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Book
Single-case experimental designs for clinical research and neurorehabilitation settings : planning, conduct, analysis and reporting
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ISBN: 9781138595620 9781138595637 9780429948152 0429948158 9780429948169 0429948166 9780429948145 042994814X 9780429488184 0429488181 1138595624 1138595632 Year: 2019 Publisher: London ; New York : Routledge/Taylor & Francis Group,

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Bases génétiques des chéloïdes liées à la région 1q

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Keloïds consist of pathologic fibrosis, which occurs in the skin after trauma and which grows beyond the boundaries of the injury. These cutaneous lesions are formed by excessive deposition of extracellular matrix, mainly collagen. Keloids occur in populations from several racial backgrounds; however, keloids are 15 times more common in the African-American and African than in the Caucasian population. The causative genes are still unknown, but several genetic Ioci have been described. We studied a Belgian family with keloïds and hypertrophic scars. Ail family members were screened using Affymetrix SNP-chips. Linkage analysis excluded ail known loci and showed a significative linkage to 1q32-q41 region containing 140 genes. We performed pathway analysis by ranking the 140 genes using data from several databases (KEGG, GO) against a training list of genes known to be related to keloïds on the basis of their expression profiling and/or immunohistochemistry. Several candidate genes were selected based on their p-values. One of them was the transforming growth factor beta 2 (TGFβ2), which plays a central role in collagen synthesis. Complete coding sequence of TGFβ2 was sequenced. Two variants were identified: an insertion of ACAA in 5’UTR (106 bp before start codon) and a substitution (A>T) in the 3’UTR (100 bp after stop codon). Both nucleotide changes are reported as polymorphisms in dbSNP. Mitogen-activated Protein Kinase Protein Kinase 2 (MAPKAPK2) was selected as the second candidate gene, on the basis of the knock-out mice, which have delayed wound healing and impaired collagen deposition. The coding parts were sequenced and three substitutions were 4ound: (A>G); Thr25Ala in the first exon, (C>T); 42bp before the third exon and, (C>T); 8bp after the fourth exon. None of these three changes was found in dbSNP. Bioinformatic analyses of the likely impact of the non-coding variants were per[ormed but, in the abscence of fresh tissue, we could not test the impact of these mutations on mRNA splicing of MAPKAPK2. The coding variant is predicted to be benign on PolyPhen analysis and non-deleterious on Panther analysis. Thus, neither one of these perfect positional candidate genes seems to be the causative gene for keloïds and hypertrophies scars in this 1q32-q41 locus Les chéloïdes sont un type de fibrose pathologique qui survient au niveau de la peau après une lésion et qui s’étendent au-delà des limites de la blessure. Ces lésions cutanées sont formées par un dépôt excessif de matrice extracellulaire, surtout du collagène. Les chéloïdes se forment dans des populations d’origines différentes, mais sont 15 fois plus fréquentes chez les Afro-américains et Africains par rapport à la population caucasienne. Les gènes causatifs sont encore inconnus, mais plusieurs loci ont déjà été décrits. Nous avons étudié une famille belge avec à la fois des chéloïdes et des cicatrices hypertrophiées. Dix-milles SNPs ont été génotypés dans 16 membres à l’aide d’une puce Affymetrix. L’analyse de liaison exclut tous les loci connus et montre un nouveau locus 1q32-q41 de Lod score 2,3 contenant 140 gènes. Nous avons effectué le classement par le programme Endeavour des 140 gènes en combinant plusieurs bases de données. Plusieurs gènes candidats ont été sélectionnés. L’un d’eux est le transforming growth factor beta 2 (TGFβ2) qui joue un rôle central dans la synthèse du collagène. Les séquences transcrites du TGFβ2 ont été séquencées dans 6 patients de 6 familles différentes. Deux variantes ont été identifiées : une insertion de «ACAA» en 5’UTR (106 pb avant le codon d’initiation) et une substitution (A>T) en 3’UTR (100 pb après le codon stop). Ces deux changements sont répertoriés comme des polymorphismes dans dbSNP132. Le 2eme gène candidat sélectionné est la mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2). En plus, la souris mutant (MAPKAPK2-/-) présente un retard de cicatrisation et un dépôt de collagène inférieur par rapport aux souris sauvage. Trois substitutions ont été trouvées: (A>G); T25A dans le premier exon, (C>T); 42bp avant le troisième exon, et (C>T); 8bp après le quatrième exon. Seul le 2ème changement a été rapporté dans dbSNP132. L’impact du changement T25A est prédit comme bénin par PolyPhen et non délétère par Panther. En l’absence de tissu frais, nous n’avons pas pu tester l’impact réel de ces changements sur épissage de l’ARNm de MAPKAPK2. Ce changement co-ségrége dans 9 patients sur 12 patients testés. D’autres analyses approfondies seront nécessaire pour impliquer ce gène dans la formation des chéloïdes


Book
Principles and Practice of Case-based Clinical Reasoning Education : A Method for Preclinical Students
Authors: --- --- ---
ISBN: 3319648284 3319648276 Year: 2017 Publisher: Cham Springer Nature

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This book is open access under a CC BY 4.0 license.  This volume describes and explains the educational method of Case-Based Clinical Reasoning (CBCR) used successfully in medical schools to prepare students to think like doctors before they enter the clinical arena and become engaged in patient care. Although this approach poses the paradoxical problem of a lack of clinical experience that is so essential for building proficiency in clinical reasoning, CBCR is built on the premise that solving clinical problems involves the ability to reason about disease processes. This requires knowledge of anatomy and the working and pathology of organ systems, as well as the ability to regard patient problems as patterns and compare them with instances of illness scripts of patients the clinician has seen in the past and stored in memory. CBCR stimulates the development of early, rudimentary illness scripts through elaboration and systematic discussion of the courses of action from the initial presentation of the patient to the final steps of clinical management. The book combines general backgrounds of clinical reasoning education and assessment with a detailed elaboration of the CBCR method for application in any medical curriculum, either as a mandatory or as an elective course. It consists of three parts: a general introduction to clinical reasoning education, application of the CBCR method, and cases that can used by educators to try out this method.

Keywords

Education. --- Curriculums (Courses of study). --- Education --- Medical education. --- Medical Education. --- Curriculum Studies. --- Professional & Vocational Education. --- Curricula. --- Medical personnel --- Professional education --- Core curriculum --- Courses of study --- Curricula (Courses of study) --- Curriculums (Courses of study) --- Schools --- Study, Courses of --- Instructional systems --- Children --- Education, Primitive --- Education of children --- Human resource development --- Instruction --- Pedagogy --- Schooling --- Students --- Youth --- Civilization --- Learning and scholarship --- Mental discipline --- Teaching --- Training --- Curricula --- Curriculum planning. --- Curriculum development --- Planning --- Design --- Education—Curricula. --- Professional education. --- Vocational education. --- Education, Vocational --- Vocational training --- Work experience --- Technical education --- Education, Professional --- Career education --- Education, Higher --- Education, Medical --- Clinical Decision-Making. --- Case-Control Studies. --- Curriculum. --- methods. --- Short-Term Courses --- Course, Short-Term --- Courses, Short-Term --- Short Term Courses --- Short-Term Course --- Case Control Studies --- Case-Compeer Studies --- Case-Referrent Studies --- Case-Base Studies --- Case-Comparison Studies --- Case-Referent Studies --- Matched Case-Control Studies --- Nested Case-Control Studies --- Case Base Studies --- Case Comparison Studies --- Case Control Study --- Case Referent Studies --- Case Referrent Studies --- Case-Comparison Study --- Case-Control Studies, Matched --- Case-Control Studies, Nested --- Case-Control Study --- Case-Control Study, Matched --- Case-Control Study, Nested --- Case-Referent Study --- Case-Referrent Study --- Matched Case Control Studies --- Matched Case-Control Study --- Nested Case Control Studies --- Nested Case-Control Study --- Studies, Case Control --- Studies, Case-Base --- Studies, Case-Comparison --- Studies, Case-Compeer --- Studies, Case-Control --- Studies, Case-Referent --- Studies, Case-Referrent --- Studies, Matched Case-Control --- Studies, Nested Case-Control --- Study, Case Control --- Study, Case-Comparison --- Study, Case-Control --- Study, Case-Referent --- Study, Case-Referrent --- Study, Matched Case-Control --- Study, Nested Case-Control --- Medical Decision-Making --- Clinical Decision Making --- Decision-Making, Clinical --- Decision-Making, Medical --- Medical Decision Making --- assessment of clinical reasoning --- diagnostic bias --- diagnostic errors --- dual process theory --- scripts --- medical problem-solving --- peer teaching --- problem-based learning --- semantic qualifiers


Book
The Impact of ENT Diseases in Social Life
Authors: --- --- ---
Year: 2021 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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In the past several years, the otorhinolaryngology sector has had a significantimpact on social life. About 10% of the cancers that affect the populationannually concern the head and neck, and each year the guidelines evolve andchange.Emergencies of the otolaryngology sector are among the most common, withnumerous increases in hospitalizations in the ENT department (e.g., bleeding,abscesses, and dyspnoea). Interventions in the election can significantly improvepatients' quality of life and help avoid future complications.Given the importance of the medical and surgical branch of otorhinolaryngology,we want to underline the impact in social life of this important area.

Keywords

Medicine --- anemia --- hearing loss --- auditory threshold shifts --- pure tone average --- pneumoparotid --- pneumoparotitis --- parotitis --- Stensen’s duct --- head and neck --- endomeatal approach --- cochlear implant --- posterior tympanotomy --- tinnitus --- without mastoidectomy --- quality of life assessment --- tracheoesophageal speech --- tracheo-esophageal puncture --- OSA --- pharyngoplasty --- sleep surgery --- pharynx --- dextromethorphan --- noise --- cochlea --- synapse --- eustachian tube dysfunction (ETD) --- chronic nasal obstruction --- turbinate hypertrophy --- ETDQ-7 --- susac syndrome --- multimodal imaging --- optical coherence tomography angiography --- retinal branch artery occlusion --- fluorescein angiography --- otitis media with effusion --- child --- biofilms --- ameloblastoma --- ameloblastic carcinoma --- nestin --- CD138 --- syndecan-1 --- alpha-SMA --- stemness markers --- total thyroidectomy --- recurrent laryngeal nerve paresis --- Voice Handicap Index --- speech range profile --- acute acoustic trauma --- noise induced hearing loss --- hyperbaric oxygen therapy --- Ménière’s disease --- chronic obstructive pulmonary disease --- risk factors --- case–control studies --- cohort studies --- anemia --- hearing loss --- auditory threshold shifts --- pure tone average --- pneumoparotid --- pneumoparotitis --- parotitis --- Stensen’s duct --- head and neck --- endomeatal approach --- cochlear implant --- posterior tympanotomy --- tinnitus --- without mastoidectomy --- quality of life assessment --- tracheoesophageal speech --- tracheo-esophageal puncture --- OSA --- pharyngoplasty --- sleep surgery --- pharynx --- dextromethorphan --- noise --- cochlea --- synapse --- eustachian tube dysfunction (ETD) --- chronic nasal obstruction --- turbinate hypertrophy --- ETDQ-7 --- susac syndrome --- multimodal imaging --- optical coherence tomography angiography --- retinal branch artery occlusion --- fluorescein angiography --- otitis media with effusion --- child --- biofilms --- ameloblastoma --- ameloblastic carcinoma --- nestin --- CD138 --- syndecan-1 --- alpha-SMA --- stemness markers --- total thyroidectomy --- recurrent laryngeal nerve paresis --- Voice Handicap Index --- speech range profile --- acute acoustic trauma --- noise induced hearing loss --- hyperbaric oxygen therapy --- Ménière’s disease --- chronic obstructive pulmonary disease --- risk factors --- case–control studies --- cohort studies


Book
Analysis of Genetic Association Studies
Authors: --- --- ---
ISBN: 1461422442 1489995994 128039885X 1461422450 9786613576774 Year: 2012 Publisher: New York, NY : Springer New York : Imprint: Springer,

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Analysis of Genetic Association Studies is both a graduate level textbook in statistical genetics and genetic epidemiology, and a reference book for the analysis of genetic association studies. Students, researchers, and professionals will find the topics introduced in Analysis of Genetic Association Studies particularly relevant.  The book is applicable to the study of statistics, biostatistics, genetics and genetic epidemiology.    In addition to providing derivations, the book uses real examples and simulations to illustrate step-by-step applications.  Introductory chapters on probability and genetic epidemiology terminology provide the reader with necessary background knowledge.  The organization of this work allows for both casual reference and close study. .

Keywords

Genetic epidemiology. --- Genetics -- Statistical methods. --- Genetic epidemiology --- Genetics --- Epidemiologic Studies --- Phenotype --- Statistics as Topic --- Investigative Techniques --- Models, Biological --- Molecular Biology --- Biological Markers --- Genetic Techniques --- Epidemiology --- Epidemiologic Methods --- Mathematical Concepts --- Health Care Evaluation Mechanisms --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Biological Factors --- Epidemiologic Study Characteristics as Topic --- Phenomena and Processes --- Genetic Phenomena --- Biochemistry --- Public Health --- Models, Theoretical --- Environment and Public Health --- Quality of Health Care --- Chemistry --- Biology --- Chemicals and Drugs --- Medicine --- Biological Science Disciplines --- Natural Science Disciplines --- Health Care Quality, Access, and Evaluation --- Health Care --- Health Occupations --- Disciplines and Occupations --- Genetic Association Studies --- Molecular Epidemiology --- Probability --- Genetic Markers --- Case-Control Studies --- Methods --- Models, Genetic --- Mathematics --- Health & Biological Sciences --- Physical Sciences & Mathematics --- Mathematical Statistics --- Pathology --- Statistical methods --- Statistics. --- Research. --- Statistical analysis --- Statistical data --- Statistical science --- Genetic research --- Statistics for Life Sciences, Medicine, Health Sciences. --- Statistics, general. --- Econometrics --- Molecular epidemiology --- Statistics .


Book
The Impact of ENT Diseases in Social Life
Authors: --- --- ---
Year: 2021 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

In the past several years, the otorhinolaryngology sector has had a significantimpact on social life. About 10% of the cancers that affect the populationannually concern the head and neck, and each year the guidelines evolve andchange.Emergencies of the otolaryngology sector are among the most common, withnumerous increases in hospitalizations in the ENT department (e.g., bleeding,abscesses, and dyspnoea). Interventions in the election can significantly improvepatients' quality of life and help avoid future complications.Given the importance of the medical and surgical branch of otorhinolaryngology,we want to underline the impact in social life of this important area.

Eight Preposterous Propositions : From the Genetics of Homosexuality to the Benefits of Global Warming
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ISBN: 0691124043 069122840X Year: 2005 Publisher: Princeton, NJ Princeton Univ. Press

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Placebo cures. Global warming. Extraterrestrial life. Psychokinesis. In a time when scientific claims can sound as strange as science fiction--and can have a profound effect on individual life or public policy--assessing the merits of a far-out, supposedly scientific idea can be as difficult as it is urgent. Into the breach between helpless gullibility and unyielding skepticism steps physicist Robert Ehrlich, with an indispensable guide to making sense of "scientific" claims. A series of case studies of some of the most controversial (and for the judging public, deeply vexing) topics in the natural and social sciences, Ehrlich's book serves as a primer for evaluating the evidence for the sort of strange-sounding ideas that can shape our lives. A much-anticipated follow-up to his popular Nine Crazy Ideas in Science, this book takes up issues close to readers' everyday reality--issues such as global warming, the dangers of cholesterol, and the effectiveness of placebos--as well as questions that resonate through (and beyond) civic life: Is intelligent design a scientific alternative to evolution? Is homosexuality primarily innate? Are people getting smarter or dumber? In each case, Ehrlich shows readers how to use the tools of science to judge the accuracy of strange ideas and the trustworthiness of ubiquitous "experts." As entertaining as it is instructive, his book will make the work of living wisely a bit easier and more reliable for scientists and nonscientists alike.


Book
The Impact of ENT Diseases in Social Life
Authors: --- --- ---
Year: 2021 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

In the past several years, the otorhinolaryngology sector has had a significantimpact on social life. About 10% of the cancers that affect the populationannually concern the head and neck, and each year the guidelines evolve andchange.Emergencies of the otolaryngology sector are among the most common, withnumerous increases in hospitalizations in the ENT department (e.g., bleeding,abscesses, and dyspnoea). Interventions in the election can significantly improvepatients' quality of life and help avoid future complications.Given the importance of the medical and surgical branch of otorhinolaryngology,we want to underline the impact in social life of this important area.

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