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Monogenic diseases versus polygenic diseases - Mihai Toma, Oana Andrada Alexiu-Toma, Pompilia Apostol
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Publisher: Editura Universitara
Author: Mihai Toma, Oana Andrada Alexiu-Toma, Pompilia Apostol
Edition: I
Pages: 192
Publisher year: 2022
ISBN: 978-606-28-1280-5
DOI: 10.5682/9786062815066
Product Code:
9786062812805
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The deciphering of the human genome has contributed to the understanding of the etiology of human diseases and to the acceleration of the rhythm in which the architecture of complex diseases is deciphered. Cells interact at a structural and functional level to allow the development and maintenance of the body's homeostasis. The alteration of these interactions can predispose to various ailments, which can have local or even systemic effects. Some of these can alter the body's homeostasis and predispose to the appearance of pathological conditions that have a poor prognosis.
In this book we try to present some of the general characteristics of some types of human diseases. This approach allows us to highlight the problems faced by clinicians and researchers in the biomedical fields that address the complexity of human diseases.
In this book we try to present some of the general characteristics of some types of human diseases. This approach allows us to highlight the problems faced by clinicians and researchers in the biomedical fields that address the complexity of human diseases.
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Monogenic diseases versus polygenic diseases
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MIHAI TOMA
OANA ANDRADA ALEXIU-TOMA
POMPILIA APOSTOL
OANA ANDRADA ALEXIU-TOMA
POMPILIA APOSTOL
1. INTRODUCTION / 8
2. SPINAL MUSCULAR ATROPHY / 10
1. CLASSIFICATION / 10
2. INCIDENT / 14
3. CLINICAL ASPECTS / 17
4. DETERMINISM / 19
5. DIAGNOSIS / 28
6. LIFE EXPECTANCY AND THERAPEUTIC CONDUCT / 30
3. CYSTIC FIBROSIS / 33
1. INCIDENT / 36
2. SYMPTOMATOLOGY / 39
3. GENETIC DETERMINISM OF CYSTIC FIBROSIS / 47
4. STRUCTURE AND FUNCTIONS OF THE CFTR / 65 PROTEIN
5. GENOTYPE-PHENOTYPE CORRELATIONS. / 71
6. SCREENING TESTS AND DIAGNOSTIC TESTS / 77
7. LIFE EXPECTANCY AND THERAPEUTIC STRATEGIES / 84
8. CONCLUSIONS / 91
4. DIABETIC NEPHROPATHY / 92
1. DEFINITION / 92
2. EVOLUTION / 96
3. HISTOLOGICAL CHANGES / 98
4. MULTIFACTORAL PREDISPOSITION / 101
5. INVESTIGATION OF GENETIC PREDISPOSITION / 109
5. COLORECTAL CANCER / 125
1. INCIDENT / 125
2. SYMPTOMATOLOGY / 126
3. CLASSIFICATION AND STAGALIZATION / 128
4. DISEASES ASSOCIATED WITH COLORECTAL CANCER / 130
5. ETIOLOGY AND RISK FACTORS / 136
6. SCREENING AND DIAGNOSIS / 151
7. TREATMENT AND PREVENTION / 158
8. CONCLUSIONS / 160
6. REFERENCES / 161
2. SPINAL MUSCULAR ATROPHY / 10
1. CLASSIFICATION / 10
2. INCIDENT / 14
3. CLINICAL ASPECTS / 17
4. DETERMINISM / 19
5. DIAGNOSIS / 28
6. LIFE EXPECTANCY AND THERAPEUTIC CONDUCT / 30
3. CYSTIC FIBROSIS / 33
1. INCIDENT / 36
2. SYMPTOMATOLOGY / 39
3. GENETIC DETERMINISM OF CYSTIC FIBROSIS / 47
4. STRUCTURE AND FUNCTIONS OF THE CFTR / 65 PROTEIN
5. GENOTYPE-PHENOTYPE CORRELATIONS. / 71
6. SCREENING TESTS AND DIAGNOSTIC TESTS / 77
7. LIFE EXPECTANCY AND THERAPEUTIC STRATEGIES / 84
8. CONCLUSIONS / 91
4. DIABETIC NEPHROPATHY / 92
1. DEFINITION / 92
2. EVOLUTION / 96
3. HISTOLOGICAL CHANGES / 98
4. MULTIFACTORAL PREDISPOSITION / 101
5. INVESTIGATION OF GENETIC PREDISPOSITION / 109
5. COLORECTAL CANCER / 125
1. INCIDENT / 125
2. SYMPTOMATOLOGY / 126
3. CLASSIFICATION AND STAGALIZATION / 128
4. DISEASES ASSOCIATED WITH COLORECTAL CANCER / 130
5. ETIOLOGY AND RISK FACTORS / 136
6. SCREENING AND DIAGNOSIS / 151
7. TREATMENT AND PREVENTION / 158
8. CONCLUSIONS / 160
6. REFERENCES / 161
The deciphering of the human genome has contributed to the understanding of the etiology of human diseases and to the acceleration of the rhythm in which the architecture of complex diseases is deciphered. Cells interact at a structural and functional level to allow the development and maintenance of the body's homeostasis. The alteration of these interactions can predispose to various ailments, which can have local or even systemic effects. Some of these can alter the body's homeostasis and predispose to the appearance of pathological conditions that have a poor prognosis.
In this book we try to present some of the general characteristics of some types of human diseases. This approach allows us to highlight the problems faced by clinicians and researchers in the biomedical fields that address the complexity of human diseases.
In this book we try to present some of the general characteristics of some types of human diseases. This approach allows us to highlight the problems faced by clinicians and researchers in the biomedical fields that address the complexity of human diseases.
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