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Nutritional and Genetic Mechanisms
Pathophysiology
By: Dr.Faisal
1
Content of pathophysiology
Systemic and organic pathophysiology
Fundamental pathological process
General concept of disease
Pathophysiology in diseases
2
Pathophysiology
3
Bridge course
Basic medicine Clinical medicine
1. Nature and Aims of Pathophysiology
4
Basic medicine ―→ Clinical medicine ―→ Practice
―→ Qualified doctor
Pathophysiology is one of basic medical
sciences, which focus on sick or disordered
life.
Pathophysiology Physiology
Different targets
Normal body
Sick body
5
Basic medical courses
normal body
structure
disordered body
structure
function
metabolism
function
metabolism
Pathoanatomy
Pathophysiology
Anatomy
Biology
Histology
Physiology
Biochemistry
about drugs----Pharmacology
Clinical medical courses
Internal medicine, Surgery, Pediatrics, et al.
6
Pathophysiology Pathoanatomy
Different Points
Function
Metabolism
7
Mechanism
Structure
Pathophysiology is the study of the underlying
8
mechanisms occur and
by which diseases
the study
develop, and
diseases within the body.
of the changes by
It provides a
theoretical basis for the prevention, diagnosis
and treatment.
Pathogenesis of disease
Pathogenesis of disease refers to the rules and
mechanisms underlying the development or evolution of the
diseases.
General rules for pathogenesis of disease
Disruption of homeostasis
If homeostasis is disrupted by a variety of harmful
agents, the body cannot function optimally, and illness
may occur.
46
Structure
Intact body
Function Metabolism
10
Alterations
in structure
Disease
Alterations
in function
Alterations in
metabolism
11
Pathophysiology emphasizes the
developmental process of diseases.
Disruption of the body’s homeostasis;
Alterations in function, metabolism
Mechanisms involved.
12
Summary
13
1.Pathophysiology is one of basic medical sciences which
study the rules of origin and evolution of diseases and
the underlying mechanisms --- “the physiology of
disease”.
2. Pathophysiology focuses on the alterations in function
and metabolism of the body and the mechanisms
underlying the development of diseases.
3. Pathophysiology plays an important role in bridge
linking basic medical sciences to clinical medicine.
General Concepts of Diseases
14
Basic Concepts
 Health
⮚No diseases or infirmity. (Physical or mental weakness).
⮚A state of complete well-being of all aspects: physical,
mental, social.
 Disease
⮚ Disease is an abnormal life process caused by certain
pathogenic factors, deviation from the normal status
including structure, function or metabolism.
15
Cause
Conditional factors
Body
Disease
44
⮚Disease is a disordered state of the body due to
pathogenic agents-host interactions.
Homeostasis: the process that the internal
environment of an organism tends to remain
balanced and stable, which is required for
optimum functioning.
⮚ Disease can be viewed as a disturbance of
homeostasis.
17
Manifestations of diseases:
18
1) Symptom: a subjective complaint
2) Sign: a manifestation that is noted by an
observer, doctor or nurse, through physical
examination, e.g. an elevated body temperature.
3) Laboratory finding: alterations found by
laboratory test, X-ray examination (routine or
CT), electrocardiogram (ECG),
ultrasonography, magnetic resonance imaging
(MRI), etc.
Sub-health
There is a situation, in which the person does
not show specific symptoms and signs of illness,
but lives a low-quality of life both physically
and mentally; this is called “sub-health”.
19
Sub-health
75%
Health
5%
Disease
20%
20
Two very important concepts
21
1) Pathological Process
A series of structural, functional and metabolic
changes that appear in different diseases, e.g.
fever, inflammation, edema, etc.
Pathological Process and Disease
22
Disease Cause Site Fundamental
Pathological Process
Pneumonia Pneumococcus Lung Fever, inflammation,
hypoxia, acid-base
disturbances, shock
Dysentery Dysentery
bacilli
Intestine Fever, inflammation,
water and electrolytes
disturbances, acid-base
disturbances, shock
Epidemic
meningitis
Meningococcus Meninges Fever, inflammation,
DIC, shock
Shocks
What are the 4 types of shocks?
 Hypovolemic shock (caused by too little blood
volume).
 Anaphylactic shock (caused by allergic reaction).
 Septic shock (due to infections)
 Neurogenic shock (caused by damage to the nervous
system)
Shock is a critical condition brought on by the sudden drop in
blood flow through the body.
Shock may result from trauma, stroke, blood loss, an allergic reaction,
severe infection, poisoning, severe burns or other causes. When a
person is in shock, his or her organs aren't getting enough blood or
oxygen.
2) Syndrome
A set of signs and symptoms that occur
together and are characteristics of a group of
diseases or a specific disease, e.g. MS, AIDS
etc.
24
Etiology of Disease
25
Etiology is a science to study the factors
associated with or involved in initiation and
development of diseases. According to their
different roles in the development of diseases,
these pathogenic factors are classified into
cause of disease and conditional factors.
Causes of diseases are the factors that provoke
or cause the particular disease. It determines
the characteristics of the disease and is
absolutely necessary for disease to occur.
Conditional factors are the factors that do not
cause disease directly but rather influence the
pathogenesis of the disease.
26
Precipitating factors belong to conditional
factors that promote the development of
diseases by enhancing the roles of cause of
diseases or susceptibility of the body to diseases.
27
e.g. Infection, arrhythmias, pregnancy, water-
electrolytes and acid-base disturbances are
precipitating factors of heart failure
Tubercle bacillus is the cause of tuberculosis.
Not all people who inhale the organism will
suffer from pulmonary tuberculosis, which
occurs in malnutrition, over fatigue and long-
term depress.
28
Causes of diseases
Extrinsic Factors Biological agents
Physical factors
Chemical factors
Nutritional factors
Pathogenic factors
Intrinsic Factors Genetic factors
Congenital factors
Immunological factors
Psychological factors
Conditional factors Body condition
(predisposing factors) Nature condition
Social condition
Precipitating factors
of diseases
45
Controlling conditional factors is easier than
eliminating the causes.
30
Causes of Disease
31
1) Biological agents bacteria, viruses,
2) Physical factors: trauma and fracture, heatstroke.
3) Chemical factors
Corrosive chemicals such as strong acid and bases can
destroy cells at the site of contact. Cell-injurious chemicals are
often called toxic substances or poison. They induce tissue
and cell damage when they enter the body through certain
pathways and reach a sufficient amount. These called
intoxication or poisoning. The toxic substances often act on
specific cells or organs, e.g. CO poisoning.
Electrical injuries
4) Nutritional factors
Excesses: high lipids and carbohydrates
diet obesity, atherosclerosis, diabetes
Deficiencies: lack of certain elements in diet
(1) Vitamin B: beriberi
(2) Vitamin A: night blindness
(3) Vitamin C: scurvy
(4) Vitamin D: rickets
32
Intrinsic Factors
1) Genetic factors
Altered genetic material passed from parent to offspring is
called genetic factors, which is classified into three
groups.
Genetic disorders
⮚Chromosome disorders: numerical and structural
abnormalities of chromosome.
⮚Single-gene disorders: the defect is caused by a single
defective or mutant gene.
⮚ Multifactorial inheritance: polygenetic disorder. 33
Common Examples of Genetic Disorders
Disorder Classification Genetics
34
Single-gene disorder
Huntington
disease
Cystic fibrosis Single-gene disorder
Single-gene disorder
Autosomal
dominant
Autosomal
dominant
X-lined dominant
Hypophosphatemia
(vitamin D-
resistant rickets)
Hemophilia
Down syndrome
Turner syndrome
Single-gene disorder
Chromosome disorder
Chromosome disorder
X-lined dominant
risomy 21
45, X
Down syndrome
36
47, +21
Inherited disease: disease caused by altered
genetic material, either single gene mutation or
chromosome aberrations. e.g. color blindness,
Albinism, Down syndrome.
37
Disorder of multifactorial inheritance result from a
combination of the multiple gene variations with
environmental factors. Therefore the disease on phenotype are
not hereditary, but these diseases do have a genetic background
(genetic susceptibility), such as congenital heart disease, cleft
lip, coronary artery disease and hypertension.
38
Genetic predisposition (genetic susceptibility):
a state of body favorable to or showing a
tendency to certain diseases because of
polygenetic abnormalities.
39
2) Congenital factors
40
Environment factors that occurred during
embryonic or fetal development are called congenital
factors, including the physiologic status of the mother
(maternal disease) and teratogenic agents (infections or
drugs taken during pregnancy), which acts on the embryo
or fetus, causing abnormalities in form or function.
Diseases caused by congenital factors
called congenital disease. e.g. congenital syphilis.
3) Immunological factors
Although the immune response is a normal protective
mechanism, it may cause disease while the response is
deficient (immunodeficiency disease), inappropriately
strong (allergy or hypersensitivity----penicillin), or
misdirected (autoimmune disease----).
41
4) Psychological factors
Anxiety, strong or persistant psychological stimulation
or stress may lead to mental illness and may be related
to some disease such as:
hypertension, peptic ulcer (duodenal ulcer), and
coronary heart disease.
42
- Conditional Factors
43
1) Body’s condition: age, sex, race; physical
training, mental condition, fatigue, smoking,
lifestyle.
2) Nature condition: weather condition and
geographical environment influence some
epidemical diseases.
3) Social condition: labor and hygiene
conditions----occupational diseases, social
life events----person’s mood and life pattern.
Reversal role of cause and result
The cause of the disease lead to a result, which can
be another cause of the disease in the evolution
process.
(Cause)
Chronic hypoxia polycythemia
(Result)
blood viscosity ↑
(Result)
erythrocyte↑
(Cause)
thrombus
48
Returned blood
volume ↓ Blood pressure↓↓
Microcirculation
congestion Sympathetic nerve excite
Capillary open Vasoconstriction
Hypoxia in tissure
vicious cycle
Contractility ↑
Maintain BP
beneficial cycle
Heart rate ↑
(Cause)
Mechanical trauma
(Result)
Hemorrhage
(Cause)
Cardiac output↓↓
(Result)
Recovery
49
Outcome of Diseases
Recovery
Death
Complete recovery
Incomplete recovery
52
1 Complete recovery
⮚The alterations of the function, metabolism
and structure of the body, which appeared in
disease, are perfectly restored.
⮚The signs and symptoms of the disease are
disappear entirely.
53
2. Incomplete recovery
⮚The main symptoms are absent.
⮚Some pathological changes are still present in the body.
⮚It is brought about by the compensatory response to
maintain a relatively normal life activity.
--e.g. Heart disease patients.
54
Death
Definition:
Irreversible cessation of the function of the body as a
whole.
Contemporary concept of death is brain death.
55
Definition of brain death
Prolonged irreversible cessation of all brain functions,
including the brain stem.
Diagnosis of Death
The bases for demonstrating brain death are the
absence of brain stem reflexes, absence of cortical activity
and demonstration of irreversibility of the state.
56
Criteria indicating brain death
57
◆ Irreversible coma and cerebral
unresponsiveness: complete lack of cerebral
response to any form of external excitation.
◆ Absence of all brain stem reflexes: It
includes the absences of pupilary reflex,
corneal reflex, cough reflex and swallowing
reflex.
◆ Cessation of spontaneous respiration
◆Absence of any electrical activity of brain
indicated by EEG (electroencephalogram)
for at least 6 hours.
58
◆ Cessation of cerebral circulation
Irreversible cessation of all brain functions, including the
brain stem is called brain death.
The bases for determine it are absence of cortical activity,
absence of brain stem reflexes, and demonstration of
irreversibility of the state.
62
Senescence (Aging)
54
Aging is a natural, lifelong process. There
is a general decline in the structure and
function of the body with advancing age,
resulting in a decreased reserve capacity of
the various organ systems. This results in a
reduction of homeostatic capabilities, making
the older adult more vulnerable to stressors
such as illness, surgery, medical administration,
and environmental changes.
⯎Experimental study Reproduce disease model i n
animals, isolated organs and cells, and observe or
perform something.
⯎Clinical study Observe directly the patient’s symptom,
laboratory testing, the rules of evolution; study the
treatment and prognosis.
⯎Epidemiological study Study the cause or conditional
factors, risk factors, rules of development of some
infective diseases
. Research Methods for Pathophysiology
55
Thank you

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Basic pathophysiology lecture 2.pptx

  • 1. Nutritional and Genetic Mechanisms Pathophysiology By: Dr.Faisal 1
  • 2. Content of pathophysiology Systemic and organic pathophysiology Fundamental pathological process General concept of disease Pathophysiology in diseases 2
  • 4. 1. Nature and Aims of Pathophysiology 4 Basic medicine ―→ Clinical medicine ―→ Practice ―→ Qualified doctor Pathophysiology is one of basic medical sciences, which focus on sick or disordered life.
  • 6. Basic medical courses normal body structure disordered body structure function metabolism function metabolism Pathoanatomy Pathophysiology Anatomy Biology Histology Physiology Biochemistry about drugs----Pharmacology Clinical medical courses Internal medicine, Surgery, Pediatrics, et al. 6
  • 8. Pathophysiology is the study of the underlying 8 mechanisms occur and by which diseases the study develop, and diseases within the body. of the changes by It provides a theoretical basis for the prevention, diagnosis and treatment.
  • 9. Pathogenesis of disease Pathogenesis of disease refers to the rules and mechanisms underlying the development or evolution of the diseases. General rules for pathogenesis of disease Disruption of homeostasis If homeostasis is disrupted by a variety of harmful agents, the body cannot function optimally, and illness may occur. 46
  • 12. Pathophysiology emphasizes the developmental process of diseases. Disruption of the body’s homeostasis; Alterations in function, metabolism Mechanisms involved. 12
  • 13. Summary 13 1.Pathophysiology is one of basic medical sciences which study the rules of origin and evolution of diseases and the underlying mechanisms --- “the physiology of disease”. 2. Pathophysiology focuses on the alterations in function and metabolism of the body and the mechanisms underlying the development of diseases. 3. Pathophysiology plays an important role in bridge linking basic medical sciences to clinical medicine.
  • 14. General Concepts of Diseases 14
  • 15. Basic Concepts  Health ⮚No diseases or infirmity. (Physical or mental weakness). ⮚A state of complete well-being of all aspects: physical, mental, social.  Disease ⮚ Disease is an abnormal life process caused by certain pathogenic factors, deviation from the normal status including structure, function or metabolism. 15
  • 17. ⮚Disease is a disordered state of the body due to pathogenic agents-host interactions. Homeostasis: the process that the internal environment of an organism tends to remain balanced and stable, which is required for optimum functioning. ⮚ Disease can be viewed as a disturbance of homeostasis. 17
  • 18. Manifestations of diseases: 18 1) Symptom: a subjective complaint 2) Sign: a manifestation that is noted by an observer, doctor or nurse, through physical examination, e.g. an elevated body temperature. 3) Laboratory finding: alterations found by laboratory test, X-ray examination (routine or CT), electrocardiogram (ECG), ultrasonography, magnetic resonance imaging (MRI), etc.
  • 19. Sub-health There is a situation, in which the person does not show specific symptoms and signs of illness, but lives a low-quality of life both physically and mentally; this is called “sub-health”. 19
  • 21. Two very important concepts 21 1) Pathological Process A series of structural, functional and metabolic changes that appear in different diseases, e.g. fever, inflammation, edema, etc.
  • 22. Pathological Process and Disease 22 Disease Cause Site Fundamental Pathological Process Pneumonia Pneumococcus Lung Fever, inflammation, hypoxia, acid-base disturbances, shock Dysentery Dysentery bacilli Intestine Fever, inflammation, water and electrolytes disturbances, acid-base disturbances, shock Epidemic meningitis Meningococcus Meninges Fever, inflammation, DIC, shock
  • 23. Shocks What are the 4 types of shocks?  Hypovolemic shock (caused by too little blood volume).  Anaphylactic shock (caused by allergic reaction).  Septic shock (due to infections)  Neurogenic shock (caused by damage to the nervous system) Shock is a critical condition brought on by the sudden drop in blood flow through the body. Shock may result from trauma, stroke, blood loss, an allergic reaction, severe infection, poisoning, severe burns or other causes. When a person is in shock, his or her organs aren't getting enough blood or oxygen.
  • 24. 2) Syndrome A set of signs and symptoms that occur together and are characteristics of a group of diseases or a specific disease, e.g. MS, AIDS etc. 24
  • 25. Etiology of Disease 25 Etiology is a science to study the factors associated with or involved in initiation and development of diseases. According to their different roles in the development of diseases, these pathogenic factors are classified into cause of disease and conditional factors.
  • 26. Causes of diseases are the factors that provoke or cause the particular disease. It determines the characteristics of the disease and is absolutely necessary for disease to occur. Conditional factors are the factors that do not cause disease directly but rather influence the pathogenesis of the disease. 26
  • 27. Precipitating factors belong to conditional factors that promote the development of diseases by enhancing the roles of cause of diseases or susceptibility of the body to diseases. 27
  • 28. e.g. Infection, arrhythmias, pregnancy, water- electrolytes and acid-base disturbances are precipitating factors of heart failure Tubercle bacillus is the cause of tuberculosis. Not all people who inhale the organism will suffer from pulmonary tuberculosis, which occurs in malnutrition, over fatigue and long- term depress. 28
  • 29. Causes of diseases Extrinsic Factors Biological agents Physical factors Chemical factors Nutritional factors Pathogenic factors Intrinsic Factors Genetic factors Congenital factors Immunological factors Psychological factors Conditional factors Body condition (predisposing factors) Nature condition Social condition Precipitating factors of diseases 45
  • 30. Controlling conditional factors is easier than eliminating the causes. 30
  • 31. Causes of Disease 31 1) Biological agents bacteria, viruses, 2) Physical factors: trauma and fracture, heatstroke. 3) Chemical factors Corrosive chemicals such as strong acid and bases can destroy cells at the site of contact. Cell-injurious chemicals are often called toxic substances or poison. They induce tissue and cell damage when they enter the body through certain pathways and reach a sufficient amount. These called intoxication or poisoning. The toxic substances often act on specific cells or organs, e.g. CO poisoning. Electrical injuries
  • 32. 4) Nutritional factors Excesses: high lipids and carbohydrates diet obesity, atherosclerosis, diabetes Deficiencies: lack of certain elements in diet (1) Vitamin B: beriberi (2) Vitamin A: night blindness (3) Vitamin C: scurvy (4) Vitamin D: rickets 32
  • 33. Intrinsic Factors 1) Genetic factors Altered genetic material passed from parent to offspring is called genetic factors, which is classified into three groups. Genetic disorders ⮚Chromosome disorders: numerical and structural abnormalities of chromosome. ⮚Single-gene disorders: the defect is caused by a single defective or mutant gene. ⮚ Multifactorial inheritance: polygenetic disorder. 33
  • 34. Common Examples of Genetic Disorders Disorder Classification Genetics 34 Single-gene disorder Huntington disease Cystic fibrosis Single-gene disorder Single-gene disorder Autosomal dominant Autosomal dominant X-lined dominant Hypophosphatemia (vitamin D- resistant rickets) Hemophilia Down syndrome Turner syndrome Single-gene disorder Chromosome disorder Chromosome disorder X-lined dominant risomy 21 45, X
  • 36. Inherited disease: disease caused by altered genetic material, either single gene mutation or chromosome aberrations. e.g. color blindness, Albinism, Down syndrome. 37
  • 37. Disorder of multifactorial inheritance result from a combination of the multiple gene variations with environmental factors. Therefore the disease on phenotype are not hereditary, but these diseases do have a genetic background (genetic susceptibility), such as congenital heart disease, cleft lip, coronary artery disease and hypertension. 38
  • 38. Genetic predisposition (genetic susceptibility): a state of body favorable to or showing a tendency to certain diseases because of polygenetic abnormalities. 39
  • 39. 2) Congenital factors 40 Environment factors that occurred during embryonic or fetal development are called congenital factors, including the physiologic status of the mother (maternal disease) and teratogenic agents (infections or drugs taken during pregnancy), which acts on the embryo or fetus, causing abnormalities in form or function. Diseases caused by congenital factors called congenital disease. e.g. congenital syphilis.
  • 40. 3) Immunological factors Although the immune response is a normal protective mechanism, it may cause disease while the response is deficient (immunodeficiency disease), inappropriately strong (allergy or hypersensitivity----penicillin), or misdirected (autoimmune disease----). 41
  • 41. 4) Psychological factors Anxiety, strong or persistant psychological stimulation or stress may lead to mental illness and may be related to some disease such as: hypertension, peptic ulcer (duodenal ulcer), and coronary heart disease. 42
  • 42. - Conditional Factors 43 1) Body’s condition: age, sex, race; physical training, mental condition, fatigue, smoking, lifestyle. 2) Nature condition: weather condition and geographical environment influence some epidemical diseases. 3) Social condition: labor and hygiene conditions----occupational diseases, social life events----person’s mood and life pattern.
  • 43. Reversal role of cause and result The cause of the disease lead to a result, which can be another cause of the disease in the evolution process. (Cause) Chronic hypoxia polycythemia (Result) blood viscosity ↑ (Result) erythrocyte↑ (Cause) thrombus 48
  • 44. Returned blood volume ↓ Blood pressure↓↓ Microcirculation congestion Sympathetic nerve excite Capillary open Vasoconstriction Hypoxia in tissure vicious cycle Contractility ↑ Maintain BP beneficial cycle Heart rate ↑ (Cause) Mechanical trauma (Result) Hemorrhage (Cause) Cardiac output↓↓ (Result) Recovery 49
  • 45. Outcome of Diseases Recovery Death Complete recovery Incomplete recovery 52
  • 46. 1 Complete recovery ⮚The alterations of the function, metabolism and structure of the body, which appeared in disease, are perfectly restored. ⮚The signs and symptoms of the disease are disappear entirely. 53
  • 47. 2. Incomplete recovery ⮚The main symptoms are absent. ⮚Some pathological changes are still present in the body. ⮚It is brought about by the compensatory response to maintain a relatively normal life activity. --e.g. Heart disease patients. 54
  • 48. Death Definition: Irreversible cessation of the function of the body as a whole. Contemporary concept of death is brain death. 55
  • 49. Definition of brain death Prolonged irreversible cessation of all brain functions, including the brain stem. Diagnosis of Death The bases for demonstrating brain death are the absence of brain stem reflexes, absence of cortical activity and demonstration of irreversibility of the state. 56
  • 50. Criteria indicating brain death 57 ◆ Irreversible coma and cerebral unresponsiveness: complete lack of cerebral response to any form of external excitation. ◆ Absence of all brain stem reflexes: It includes the absences of pupilary reflex, corneal reflex, cough reflex and swallowing reflex. ◆ Cessation of spontaneous respiration
  • 51.
  • 52. ◆Absence of any electrical activity of brain indicated by EEG (electroencephalogram) for at least 6 hours. 58 ◆ Cessation of cerebral circulation
  • 53. Irreversible cessation of all brain functions, including the brain stem is called brain death. The bases for determine it are absence of cortical activity, absence of brain stem reflexes, and demonstration of irreversibility of the state. 62
  • 54. Senescence (Aging) 54 Aging is a natural, lifelong process. There is a general decline in the structure and function of the body with advancing age, resulting in a decreased reserve capacity of the various organ systems. This results in a reduction of homeostatic capabilities, making the older adult more vulnerable to stressors such as illness, surgery, medical administration, and environmental changes.
  • 55. ⯎Experimental study Reproduce disease model i n animals, isolated organs and cells, and observe or perform something. ⯎Clinical study Observe directly the patient’s symptom, laboratory testing, the rules of evolution; study the treatment and prognosis. ⯎Epidemiological study Study the cause or conditional factors, risk factors, rules of development of some infective diseases . Research Methods for Pathophysiology 55

Editor's Notes

  1. Shock is a critical condition brought on by the sudden drop in blood flow through the body. Shock may result from trauma, heatstroke, blood loss, an allergic reaction, severe infection, poisoning, severe burns or other causes. When a person is in shock, his or her organs aren't getting enough blood or oxygen.