huntington's chorea
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2021 ◽  
pp. 51-54
Author(s):  
M. G. Sokolova ◽  
V. A. Shavurov ◽  
G. I. Shvartsman ◽  
D. A. Pitolenko ◽  
N. S. Sotnikov

Huntington's chorea is a hereditary disease causing progressive degeneration of the central nervous system with the damage to extrapyramidal structures: basal nuclei, striatum, subthalamic nucleus with increased activity of the central dopaminergic pathways, with the development of neurological, psychiatric, and emotional/personality disorders [1, 17]. The inheritance pattern of the disorder is autosomal dominance. The prevalence of Huntington's disease ranges from 3 to 17 cases per 100,000 population, averaging 5–7 cases per 100,000 population in Russia [2]. The development of the disease is associated with the expansion of CAG (cytosine-adenine-guanine) trinucleotide repeats in the frst exon of the HTT gene encoding the huntingtin protein. This expansion of trinucleotides (long sections of glutamine residues) leads to the selective loss of neurons that connect the striatum and the globus pallidus. This leads to a loss of inhibitory activity and an increase in the excitation impulse, which leads to uncontrolled movements.Unfortunately, medical treatment does not slow down the progression of this disease (a lethal outcome occurs within 15–20 years). Improvement of the quality of life of people with Huntington's chorea, with the provision of medical services at an appropriate level, remains an urgent issue. This direction is especially relevant in providing dental care to patients with Huntington's chorea. Due to the pronounced hyperkinetic syndrome and compulsive movements in the muscles of the arms, trunk, neck and face, it is almost impossible to provide dental care for these patients. Currently, general anesthesia is used to enable dental intervention, but patients note that with frequent use of anesthesia, the patient's condition deteriorates, with an increase in hyperkinetic symptoms. Tetrabenazine is known to reduce the severity of hyperkinetic symptoms and is used in many countries [5].However, in our country many specialists are not familiar with it. During the follow-up of a patient with Huntington's chorea, with the selection of a therapeutic dose of tetrabenazine, it was possible to provide three stages of dental care for the patient without the use of general anesthesia. The material presented in the article can provide useful information on the use of tetrabenazine in patients with Huntington's chorea.


2021 ◽  
pp. 240-246
Author(s):  
Suleiman I. Sharif ◽  
Abduelmula R. Abduelkarem

Objective: The aim of the study was to evaluate the ability of pharmacy students to assess their learning. Methods: Without pre-class preparation or access to learning resources, third-year pharmacy students were asked to list in preset templates the important points of topics that were covered two weeks earlier including Alzheimer’s, Huntington’s chorea and Parkinson’s diseases, structure short essay questions guided by these lists and answer them. In the first section, students worked individually while in the second and third sections they worked in groups of four. At the end of each session, students were asked to fill in a pre-piloted ethically approved questionnaire on their perception of the present exercise and learning strategies and examinations. Results: The majority of participants (n: 51; 85%) were females and with GPAs ranging from 2.5-4. The important points listed by students focused on the aetiology and treatment of the disorders. However, the questions framed by grouped students and their answers were more thorough and well organised. Half of the participants reported the aim of tests was to improve their learning and the majority (93%, 85% and 85%) of students preferred pre-scheduled tests, paper examinations and lectures using PowerPoint presentations respectively. In their reflection on the exercise, most students enjoyed it and found it effective in enhancing their learning. Conclusion: The present pedagogy enhances learning, writing skills, group collaboration and team spirit. Its application in other classes and topics would strengthen its value in enhancing learning.


2021 ◽  
Author(s):  
Marta Lacková

Terminology represents a significant factor in healthcare communication between specialists and patients. The present paper deals with the lexicosemantic characteristics of multi-word lexical units multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s disease, Alzheimer’s disease, epidural abscess, Huntington’s chorea, and carpal tunnel syndrome. The research questions focus on collocations, word combinations, and concordances in which they regularly appear; the first lemma to the left and the first lemma to the right from the studied lexeme demonstrate the principal positions of our interest. Simultaneously, the researcher considers their semantic restrictions, semantic prosody, and grammatical relations that influence their lexical features. The whole linguistic material is investigated in the framework of the text corpus English Web 2015 (enTenTen15) with the help of the search tool Sketch Engine. To begin the research, the frequencies of these lexical units are elaborated. The researcher also looks into the morphological classification of the studied words as these two factors affect them from the lexicological perspective. The research outcomes confirm that the nervous disease names appear in a wide range of structures, and they considerably contribute to successful communication in the medical surroundings. Moreover, the results indicate that the lexicosemantic behaviour of the terms reflects extralinguistic factors (psychological, social) of individual communication acts. The phenomenon is to be further examined and interpreted within the corpus analyses of other chosen lexical units, not only from the field of medicine. Eventually, the researcher outlines possible pedagogical implications of the research results in the process of teaching English.


2020 ◽  
Vol 11 (4) ◽  
pp. 50-65
Author(s):  
Marta Lacková

Terminology represents a significant factor in healthcare communication between specialists and patients. The present paper deals with the lexicosemantic characteristics of multi-word lexical units multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s disease, Alzheimer’s disease, epidural abscess, Huntington’s chorea, and carpal tunnel syndrome. The research questions focus on collocations, word combinations, and concordances in which they regularly appear; the first lemma to the left and the first lemma to the right from the studied lexeme demonstrate the principal positions of our interest. Simultaneously, the researcher considers their semantic restrictions, semantic prosody, and grammatical relations that influence their lexical features. The whole linguistic material is investigated in the framework of the text corpus English Web 2015 (enTenTen15) with the help of the search tool Sketch Engine. To begin the research, the frequencies of these lexical units are elaborated. The researcher also looks into the morphological classification of the studied words as these two factors affect them from the lexicological perspective. The research outcomes confirm that the nervous disease names appear in a wide range of structures, and they considerably contribute to successful communication in the medical surroundings. Moreover, the results indicate that the lexicosemantic behaviour of the terms reflects extralinguistic factors (psychological, social) of individual communication acts. The phenomenon is to be further examined and interpreted within the corpus analyses of other chosen lexical units, not only from the field of medicine. Eventually, the researcher outlines possible pedagogical implications of the research results in the process of teaching English.


2020 ◽  
Vol 43 (10) ◽  
pp. 633-634
Author(s):  
Ester Ferrer-Inaebnit ◽  
Juan José Segura-Sampedro ◽  
Francesc Xavier Molina-Romero ◽  
Xavier González-Argenté
Keyword(s):  

2020 ◽  
Vol 144 ◽  
pp. 110065
Author(s):  
Omer Ć. Ibrahimagić ◽  
Amra Iljazović ◽  
Suljo Kunić ◽  
Vesna Vržuljević ◽  
Aida Šehanović ◽  
...  

2020 ◽  
Vol VI (4) ◽  
pp. 214-215
Author(s):  
G. Idelson

The author analyzes in detail Huntington's chorea based on rich literature and 8 own observations. In one case, the author was also able to study the central nervous system, peripheral nerves and individual muscles, and interesting results were obtained.


2020 ◽  
Vol 30 (6) ◽  
pp. 1041-1055
Author(s):  
Nicola Buckner ◽  
Kevin C. Kemp ◽  
Helen L. Scott ◽  
Gongyu Shi ◽  
Caroline Rivers ◽  
...  

2020 ◽  
Vol 64 (3) ◽  
pp. 325-354
Author(s):  
Amir Teicher

Between 1880 and 1920 the medical quest to unearth the causes of disease saw two pathbreaking discoveries. One was the bacteriological revolution – the identification of specific germs as causal agents of specific diseases (anthrax, tuberculosis, diphtheria, cholera and so on), and the simultaneous effort to develop disinfection techniques and immunisation measures to combat these diseases. The other was the rediscovery of Mendel’s laws of heredity and the resulting emergence of medical genetics, where an entire set of medical maladies (deafness, blindness, bodily deformities, haemophilia, Huntington’s chorea, feeble-mindedness and many mental diseases) were identified – rightly or wrongly – as genetically determined. The ‘germ theory of disease’ and the ‘gene theory of disease’ shared striking, all-too-often overlooked similarities. Both theories built on shared epistemological assumptions that influenced their explanatory mechanisms and their overall conceptual frameworks; both mobilised similar visual and linguistic vocabulary; both appropriated – and enforced – prevailing cultural and gender norms; and both enshrined broadly parallel hygienic practices. Reflecting similar social concerns, medical bacteriology and medical genetics acquired kindred scientific and societal configurations, which this paper highlights and scrutinises.


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