scholarly journals Alterations and Chromosomal Variants in the Ecuadorian Population

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
César Paz-y-Miño ◽  
Nadia Cumbal ◽  
Santiago Araujo ◽  
Ma. Eugenia Sánchez
Keyword(s):  
Rare Diseases ◽  
Chromosomal Aberrations ◽  
Medical Genetics ◽  
Banding Technique ◽  
Central Component ◽  
Chromosomal Alterations ◽  
Medical Specialties ◽  
The Subject ◽  
Chromosomal Variants

Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population.

scholarly journals The possible significance of trisomy 8 in acute myeloid leukemia

2017 ◽  
Vol 5 (6) ◽  
pp. 2652 ◽  
Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Prognostic Significance ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Trisomy 8 ◽  
Increased Risk ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.

Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej

2019 ◽  
Vol 23 (1) ◽  
Author(s):  
Marek W. Karwacki
Keyword(s):  
Rare Diseases ◽  
Clinical Course ◽  
Benign Tumors ◽  
Disease Course ◽  
Small Children ◽  
Monogenic Disorders ◽  
Café Au Lait Spots ◽  
Legius Syndrome ◽  
Risk Of Malignancy ◽  
The Subject

Term neurofibromatoses (NF) comprises three distinct medical entities of different clinical course with overlapping symptomatology and different molecular pathology. NF-1 and its allelic and mosaic forms is one of the most frequent monogenic disorders and together with Legius syndrome belongs to RASopathies. Remaining two, NF-2 and schwannomatosis (NF-3), are ultra-rare diseases and do not belong to RASopathies. Symptomatology, diagnostic and therapeutic requirements as well as complications of NF course are so different from those observed in other RASopathies and phacomatoses, that neurofibromatoses should constitute a separate classification group with distinct program of care. The crucial argument behind this thesis is that NFs are primary neoplasia syndromes, as benign tumors arise in all patients lifelong and a risk of malignancy significantly exceed populational risk in NF patients. Primary diagnostic problems, especially in small children with multiple cafè-au-lait spots required differentiation among almost 80 clinical entities, divers tumors and potential malignancies, varied multiorgan oncological and non-oncological complications of disease course, warrant not only complex multi-specialty consultations and comprehensive supervision, but the coordinated medical care in general. Proofs confirming title’s thesis are the subject of this article.

Approach to the Internal Medicine Board Examination

2014 ◽  
pp. 1103-1107
Author(s):  
Stuart B. Mushlin
Keyword(s):  
Internal Medicine ◽  
Medical Knowledge ◽  
Core Knowledge ◽  
Self Assessment ◽  
Medical Specialties ◽  
The Core ◽  
Body Of Knowledge ◽  
The Subject ◽  
The 1960S ◽  
Core Body

This chapter is different from the others. Its intent is to concentrate your mind on the American Board of Internal Medicine (ABIM) examination, its purpose, and its likely test scenarios. The ABIM moved to a written rather than oral test in the 1960s. The testing has been extensively validated and is unlikely to change much in its character. Essentially, the ABIM wants to determine if you have the core knowledge in all the disciplines to be an effective and efficient physician. It further wants to discriminate between you and the other test takers so that you can see how you compare with others taking the examination. Many candidates, in their increasing anxiety over the subject matter, lose sight of these major objectives. To pass the examination it is not necessary to regurgitate in photographic detail one of the standard textbooks of medicine or the latest Medical Knowledge Self-Assessment Program (MKSAP) review; however, you should feel that you know the core body of knowledge in all the major medical specialties.

Colchicine treatment increases the risk for fetal chromosomal aberrations—an observational study and systematic literature review

Rheumatology ◽  
2020 ◽  
Author(s):  
Amihood Singer ◽  
Julia Grinshpun-Cohen ◽  
Lena Sagi-Dain
Keyword(s):  
Literature Review ◽  
Observational Study ◽  
Systematic Literature Review ◽  
Chromosomal Aberrations ◽  
Literature Search ◽  
Absolute Risk ◽  
Colchicine Treatment ◽  
Increased Risk ◽  
Study Support ◽  
The Subject

Abstract Objectives To examine the risk for chromosomal aberrations in fetuses of colchicine-treated patients in a large cohort, and to perform a systematic literature review on the subject. Methods For the observational study, a retrospective search was performed through the Ministry of Health computerized database, for all invasive tests performed due to parental colchicine treatment over the years 2003–19. The rate of aberrant karyotypes in pregnancies exposed to colchicine was compared with a local cohort of 2752 normal pregnancies, yielding six (0.2%) karyotype-detectable findings. In addition, a systematic literature search was conducted for studies examining the rate of chromosomal aberrations in pregnancies exposed to colchicine. Results The study group consisted of 755 pregnancies karyotyped due to colchicine exposure. A marked decrease due to this indication was noted over the years (i.e. 67 cases in 2003 vs 8 in 2019). Five (0.66%) chromosomal aberrations were noted: 47,XXY; 45,X0; 47,XYY; and two fetuses with trisomy 21. This rate was significantly increased compared with the control population [relative risk 2.2 (95% CI: 1.1, 4.2)]. Literature search yielded four studies encompassing 740 pregnancies. The rate of chromosomal aberrations ranged from ‘none’ (in three studies) up to 1.5%. Quality assessment of the evidence was defined as ‘low’. Conclusion The results of our observational study support the concern that colchicine treatment is associated with increased risk for fetal chromosomal aberrations; however, the absolute risk is relatively low (one in 151 pregnancies). This information should be taken into account when considering invasive testing in such pregnancies.

scholarly journals Evaluation of the perception of medical students about medical genetics during the course and professional life, in a University Center Of Belém, Pará, Amazônia

2021 ◽  
pp. 63-77
Author(s):  
Carlos Henrique Lopes Martins ◽  
Gabriela Elenor dos Santos Lima ◽  
Carla Viana Dendasck ◽  
Ciane Martins de Oliveira ◽  
Euzébio de Oliveira
Keyword(s):  
Medical Students ◽  
Medical School ◽  
Quantitative Research ◽  
Professional Training ◽  
Medical Genetics ◽  
Professional Life ◽  
Professional Conduct ◽  
Microsoft Excel ◽  
University Center ◽  
The Subject

The discipline Genetics has a fundamental role in the academic and professional training of medical students. Thus, it is necessary that their perception be regular or good during the basic, clinical and boarding cycles of the course, so that good professional conduct can be based and to condition impulses to the patient’s health. The main objective of the study is to evaluate the perception of the students of the Medical School on Medical Genetics during the course and professional life, in a University Center of Belém, Pará, Amazônia. This is a quantitative research, where a questionnaire was applied prepared by the researchers with open and closed questions. The collected data were analyzed and tabulated in graphs and tables developed through Microsoft Excel 2017. We interviewed 120 students from the 1st to the 12th semester of the course, where 90% stated that they had difficulties in the course of the course, 62.5% had their knowledge expanded after the realization of the same, however, 75% considered that the discipline was insufficient to address the entire length of the subject. It is suggested, then, that students may have greater contact with the subject, either in the form of courses or extracurricular internships.

scholarly journals The C. elegans Mi-2 chromatin-remodelling proteins function in vulval cell fate determination

Development ◽  
2000 ◽  
Vol 127 (24) ◽  
pp. 5277-5284 ◽  
Author(s):  
T. von Zelewsky ◽  
F. Palladino ◽  
K. Brunschwig ◽  
H. Tobler ◽  
A. Hajnal ◽  
...  
Keyword(s):  
Cell Fate ◽  
Central Component ◽  
Cell Fate Determination ◽  
Nurd Complex ◽  
Fate Determination ◽  
C Elegans ◽  
Vulval Precursor Cells ◽  
The Subject ◽  
Biochemical Analyses ◽  
Ras Signalling

The Mi-2 protein is the central component of the recently isolated NuRD nucleosome remodelling and histone deacetylase complex. Although the NuRD complex has been the subject of extensive biochemical analyses, little is known about its biological function. Here we show that the two C. elegans Mi-2 homologues, LET-418 and CHD-3, play essential roles during development. The two proteins possess both shared and unique functions during vulval cell fate determination, including antagonism of the Ras signalling pathway required for vulval cell fate induction and the proper execution of the 2 degrees cell fate of vulval precursor cells, a process under the control of LIN-12 Notch signalling.

Musculoskeletal Pain

2017 ◽  
Author(s):  
M. Gabriel Hillegass ◽  
Anthony A. Tucker ◽  
Antonio Quidgley-Nevares
Keyword(s):  
Musculoskeletal Pain ◽  
Occupational Injuries ◽  
High Yield ◽  
Pain Medicine ◽  
Medical Specialties ◽  
Anatomy And Physiology ◽  
Pain Syndromes ◽  
Mediators Of Inflammation ◽  
The Subject ◽  
Probing Questions

This chapter on musculoskeletal pain is composed of a question-and-answer bank that encompasses the breadth of the fund of knowledge required for the evaluation and management of various chronic musculoskeletal pain syndromes. Not only do probing questions with concise and informative answer explanations challenge the reader’s knowledge base but also references for further reading and mastery of the subject are provided. Topics covered include epidemiology, disability, rehabilitation, anatomy and physiology (including neurophysiology and mediators of inflammation), and the musculoskeletal exam. The pathophysiology, diagnosis, and management of musculoskeletal pain conditions such as common orthopedic and occupational injuries, osteoarthritis, chronic tissue pain states, and various autoimmune diseases (e.g., rheumatoid arthritis) are also expertly reviewed. These high-yield questions correspond to the musculoskeletal pain section of the American Board of Medical Specialties Pain Medicine Content Outline.

Knowledge of microbiology in the system of training the students of medical specialties

2018 ◽  
Vol 22 (2) ◽  
pp. 381-384
Author(s):  
O.I. Karbovanets ◽  
H.М. Кoval ◽  
Y.S. Hasynets ◽  
N.V. Kuruts
Keyword(s):  
Group Learning ◽  
Educational Practice ◽  
Practical Training ◽  
Medical Specialties ◽  
Project Method ◽  
Scientific Circle ◽  
The Subject ◽  
Knowledge Content ◽  
Independent Work

Actuality of the material set forth in the article is caused by the significance of microbiological knowledge in the system of medical students training of such medical specialties as “Medical service”, “Stomatology”, “Pharmacy”. The aim — to determine the content of knowledge of microbiological material, the organization of the process of their formation, effective assimilation in the system of training students of medical specialties. In this work the content, forms of formation and mastering of knowledge on microbiology by students of medical specialties are analyzed; applied theoretical, empirical methods of data analysis. It is determined that microbiological knowledge is an important component of the students competence to secure their naturally scientific and professionally practical training. It is proved that the knowledge content educational branch of the science “Microbiology” are scientific knowledge, facts, principles, ideas, laws, consistent patterns, and theories demanding students thorough study and comprehension. Structure of the knowledge the students should master, is expressed in the system of concepts, skills, skills and experience embodied info educational practice with the help of various forms, methods means and methodological ways. It was established that the organization of the process of formation and assimilation of knowledge received by students in the study of the subject “Microbiology” is fully determined by a variety of factors (group learning activities, project method, developed structure of organization and conducting independent work, scientific circle), which in the complex contribute to effective mastering of microbiological knowledge. The training of microbiology, which is expressed in this system, is an important component of the subject competence of the students, ensures their high natural-scientific and professional-practical training, which leads to the formation and qualitative assimilation of the integral system of knowledge, conditioned by the requirements of the program. Gaining and mastering knowledge is a purposeful, step-by-step and long-term process. The prospects for further research are seen in the improvement and use of certain materials in the system of training students of other educational fields of knowledge.

TOP-DOWN RELIGION AND THE DESIGN OF POST-WORLD WAR II AMERICAN PLURALISM

2013 ◽  
Vol 10 (1) ◽  
pp. 233-243
Author(s):  
R. LAURENCE MOORE
Keyword(s):  
United States ◽  
World War Ii ◽  
American Culture ◽  
The United States ◽  
Central Component ◽  
Right Wing ◽  
World War ◽  
Top Down ◽  
Islamic Movements ◽  
The Subject

Academics are falsely rumored to have a low regard for religion. Although Richard Dawkins and Christopher Hitchens, authors of The God Delusion and God Is Not Great, respectively, made atheism a best-selling subject in the United States, it is not coincidental that Hitchens and Dawkins are English. They were educated in a country where a strident antipathy toward religion is not unpatriotic. American atheists with as much brass are rare. Kicking religion around cannot be an American sport because, from colonial to contemporary times, religion has been a central component of American culture. To be sure, a lot of scholarly criticism has been directed at right-wing Christian and Islamic movements. But scholars whose personal views on faith incline them to echo Hitchens's mordant formula that “religion poisons everything” should probably look for a country other than the United States to study. The recent books of historians and sociologists of American religion have taken a tone toward the subject that has ranged from gentle to friendly.

HPV vaccination rate in French adolescent girls: an example of vaccine distrust

2017 ◽  
Vol 103 (8) ◽  
pp. 740-746 ◽  
Author(s):  
Hervé Lefèvre ◽  
Cécile Schrimpf ◽  
Marie Rose Moro ◽  
Jonathan Lachal
Keyword(s):  
Adolescent Girls ◽  
Interpretative Phenomenological Analysis ◽  
Hpv Vaccination ◽  
Vaccination Rate ◽  
Medical Specialties ◽  
Semistructured Interviews ◽  
Health And Disease ◽  
The Subject ◽  
Credible Information ◽  
The Individual

ObjectivesTo explore the clinical issues of human papillomavirus (HPV) vaccination to develop explanatory hypotheses for the low level of vaccination among adolescent girls in France where the full course coverage is low (<15%).DesignWe used semistructured interviews. Our qualitative and phenomenological procedure applied interpretative phenomenological analysis.Participants16 physicians regularly faced with the prescription of HPV vaccine, represented several medical specialties (paediatrics, general practice, internal medicine, gynaecology), with hospitalist or private practices.Main outcome measuresThe results connect three superordinate themes grouping three concentric levels: within society, during the consultation and in the individual doctor’s feelings.ResultsThe modalities and contents of the information about HPV vaccination raise questions about the limitations of the information doctors receive. The ineluctable association between sexuality and HPV vaccination explains their reluctance to raise topics considered to be private. The reasons for HPV vaccination illustrate the difficulty of arguing in favour of it. In view of the frequent parental reluctance, which weakens the parent–physician alliance, physicians must take responsibility for defending the benefits of vaccination. They nonetheless remain citizens whose opinions may implicitly echo the general reluctance, promoted by disinformation. In delaying or avoiding the subject of vaccination, they involuntarily become an instrument of anti-vaccination discourse.ConclusionsIt is imperative to improve the distribution of credible information about vaccination, unbiased and scientifically supported by a strong institutional position and to rethink the place of the clinician in the system of adolescent health and disease prevention in France.

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