Concept of constitutional anomalies and diatheses
In domestic pediatric practice, diathesis refers to a state of unstable equilibrium in neuroendocrine regulation and metabolism in early childhood. It leads to an inadequate response of the organism to everyday stimuli.
Historically, the classical approach viewed diathesis as a premorbid background predisposing to a severe course of diseases. The modern genetic approach interprets it as a multifactorial hereditary predisposition that can serve as a background for the vast majority of chronic diseases in adults.
Molecular phylogenetics in oncology
Modern tumor classifications rely on clinical, morphological, and molecular-genetic data. A wide range of methods is used for their study, ranging from PCR and cytogenetic analysis to immunohistochemistry (IHC).
Groups of molecular markers reflecting the following are actively studied in practice:
- Cell adhesion and differentiation.
- Processes of angiogenesis and cell proliferation (Ki-67).
- Apoptosis and DNA repair mechanisms (MMR in Lynch syndrome).
The American College of Medical Genetics and Genomics (ACMG) classifies pathogenic variants, distinguishing Class V—genetic variants that are a proven cause of disease.
Monitoring and prevention of hereditary diseases
Using severe metabolic disorders such as Gaucher disease (GD) as an example, a system of monitoring and prevention is established:
- Medical genetic counseling is indicated for families with affected children and patients during family planning.
- Prenatal diagnostics is used for intrauterine detection of disorders if there is already a history of children with severe forms of the disease.
- Dynamic follow-up includes detailed blood tests, bilirubin level assessment, and specialist examinations.
Diathesis is childhood instability (CI), transitioning into an adult predisposition to chronic diseases.
Class and exam questions
What is diathesis from the perspective of modern medical genetics?
It is a polygenic or multifactorial hereditary predisposition that creates a premorbid background for the development of chronic diseases.
What research methods are used for tumor diagnostics?
PCR, in situ hybridization, blot analysis, cytogenetic analysis, immunohistochemistry, electron microscopy, and flow cytometry are used.
What are the objectives of prenatal diagnostics in Gaucher disease?
Its goal is the comprehensive detection of developmental disorders in the fetus in families with a burdened medical history for timely medical decision-making.
What else to study on this topic
- Mechanisms of macroevolution and synthesigenesis (transduction, symbiogenesis, hybridogenesis)
- Mitochondrial inherited diseases and maternal inheritance
- Classification of tumor markers by functions and mechanisms of action
- Mismatch repair (MMR) systems and Lynch syndrome
- Features of medical rehabilitation and sanatorium-resort treatment for patients with orthopedic disorders
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