Early translation of biochemical, metabolic, and genetic discoveries into clinical medicine

2022 ◽  
pp. 33-40
Author(s):  
Moyra Smith
Author(s):  
Sarah A. Luse

In the mid-nineteenth century Virchow revolutionized pathology by introduction of the concept of “cellular pathology”. Today, a century later, this term has increasing significance in health and disease. We now are in the beginning of a new era in pathology, one which might well be termed “organelle pathology” or “subcellular pathology”. The impact of lysosomal diseases on clinical medicine exemplifies this role of pathology of organelles in elucidation of disease today.Another aspect of cell organelles of prime importance is their pathologic alteration by drugs, toxins, hormones and malnutrition. The sensitivity of cell organelles to minute alterations in their environment offers an accurate evaluation of the site of action of drugs in the study of both function and toxicity. Examples of mitochondrial lesions include the effect of DDD on the adrenal cortex, riboflavin deficiency on liver cells, elevated blood ammonia on the neuron and some 8-aminoquinolines on myocardium.


2002 ◽  
Vol 41 (01) ◽  
pp. 3-13 ◽  
Author(s):  
M. Schäfers

SummaryNuclear cardiological procedures have paved the way for non-invasive diagnostics of various partial functions of the heart. Many of these functions cannot be visualised for diagnosis by any other method (e. g. innervation). These techniques supplement morphological diagnosis with regard to treatment planning and monitoring. Furthermore, they possess considerable prognostic relevance, an increasingly important issue in clinical medicine today, not least in view of the cost-benefit ratio.Our current understanding shows that effective, targeted nuclear cardiology diagnosis – in particular for high-risk patients – can contribute toward cost savings while improving the quality of diagnostic and therapeutic measures.In the future, nuclear cardiology will have to withstand mounting competition from other imaging techniques (magnetic resonance imaging, electron beam tomography, multislice computed tomography). The continuing development of these methods increasingly enables measurement of functional aspects of the heart. Nuclear radiology methods will probably develop in the direction of molecular imaging.


1977 ◽  
Vol 16 (03) ◽  
pp. 125-130 ◽  
Author(s):  
P. L. Reichertz

Data processing has become an important tool in theoretical and clinical medicine. The main categories of applications are : information analysis, (bio)signal processing and the field of information logistics (information systems).The problems encountered lie in the discrepancy of the basic methods of a formal approach to an empirical science, the complexity of the target system and the system ecology, i.e. the involvement of the user and the system environment during system construction and utilization.Possible solutions to these problems are the application of system techniques, inductive planning, development of medical methodology, development of methods and techniques for user involvement and assessment of motivation and education and educational planning.The necessary general strategy in the development in medical informatics is seen in the continuing systematization of the theoretical and practical approach. It is estimated that this will eventually contribute to the systematization of medical science and practice.


1972 ◽  
Vol 27 (03) ◽  
pp. 365-376 ◽  
Author(s):  
G Fedder ◽  
Elisabeth M. Prakke ◽  
J Vreeken

SummarySince the conception of intravascular coagulation has been introduced in clinical medicine, the interest of clinicians in the early detection of this syndrome is continuously increasing. Therefore small amounts of thrombin and thromboplastin were infused into rabbits and special parameters, such as presence of an activated form of factor V and occurrence of a positive fibrin monomer test, were checked. As it turned out, activation of factor V (proaccelerin, accelerator globulin or AcG) was an earlier sign of intravascular coagulation than the appearance of a positive gelation test, which may occur without changes in fibrinogen or the number of blood platelets. These experiments could be of value for the early detection of intravascular coagulation in man.


1960 ◽  
Vol 34 (2_Suppla) ◽  
pp. S215-S216 ◽  
Author(s):  
J. B. Brown
Keyword(s):  

Author(s):  
А.Б. Салтыков ◽  
С.В. Грачев

Редукционистский подход в медицине рассматривает живые системы в качестве закрытых (замкнутых) образований, функции которых полностью детерминированы свойствами соответствующих материальных компонентов. Каждое нарушение функции объясняется предшествующими изменениями структур, реализующих эту функцию. Из этого следует, что любая патология структурно-функциональна по своей сути, а понятие «функциональные заболевания» - принципиально ошибочно из-за искажения причинно-следственных отношений. По мере прогресса медицины ожидается открытие собственно первичных структурных маркеров «функциональных» заболеваний, что будет иметь решающее значение для их ранней диагностики и патогенетического лечения (ориентированного прежде всего, на устранение первичного звена расстройств). Вместе с тем, в медицине существует более общий холистический (функционально ориентированный) подход, формирующий иной стереотип клинического мышления. В этих рамках любая патология объясняется недостаточностью адаптивных функций организма в изменившихся условиях существования. Обычно сложный характер функциональных взаимодействий делает невозможным их описание на основе текущих характеристик материальных компонентов системы, особенно при воздействии на организм внешних патогенных факторов. Именно внешние воздействия способны инициировать первичный дефицит адаптивных механизмов с заведомо вторичными структурными изменениями, что позволяет перестать рассматривать «функциональные болезни» как принципиально ошибочное понятие. Первичный дефицит функций наиболее нагляден при информационной патологии, идеальная природа которой не сводится к соответствующим материальным носителям. Все это ставит под сомнение возможность обнаружения собственно первичных структурных маркеров некоторых заболеваний, особенно если в их основе лежит информационная патология (невроз, нервная анорексия, психическая аменорея, морская болезнь, некоторые формы фантомных болей и др.). Reductionist approach in medicine considers living systems as closed (closed) formations whose functions are completely determined by the properties of the corresponding material components. Each disturbance of the function is explained by previous changes in the structures that realize this function. From this it follows that any pathology is structurally functional in its essence, and the concept of «functional diseases» is fundamentally erroneous because of the distortion of cause-effect relationships. As medicine progresses, the actual primary structural markers of «functional» diseases are expected to be discovered, which will be crucial for their early diagnosis and pathogenetic treatment (primarily aimed at eliminating the primary link of disorders). At the same time, in medicine there is a more general holistic (functionally oriented) approach, forming a different stereotype of clinical thinking. Within this framework, any pathology is due to the lack of adaptive functions of the organism in the changed conditions of existence. Usually the complex nature of functional interactions makes it impossible to describe them on the basis of the current characteristics of the material components of the system, especially when external pathogenic factors influence the organism. It is external actions that can initiate a primary deficit of adaptive mechanisms with known secondary structural changes, which allows us to stop treating «functional diseases» as a fundamentally wrong concept. The primary deficit of functions is most evident in information pathology, the ideal nature of which is not reduced to the corresponding material carriers. All this calls into question the possibility of detecting the primary structural markers of certain diseases, especially if they are based on information pathology (neurosis, anorexia nervosa, mental amenorrhea, seasickness, some forms of phantom pains, etc.).


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