GPHC LEC: CAUSES OF DISEASE

PROFESSOR/S: Dean Mark Francisco, PhD

THIRD YEAR – 1ST SEMESTER | S.Y 2023 – 2024

● Spina bifida (incomplete closure of spinal cord)

CAUSES OF DISEASE ● Teratogenic drugs – harmful to pregnant woman

I. Hereditary and can cause physical defects to babies
A. Developmental Defects
❖ Thalidomide-sedative(limb-reduction anomalies)
B. Cytogenetic Defects (Karyotypic)
C. Single-Gene Defects ❖ Hydantoin – anti epileptic (facial feature,
D. Multifunctional Inheritance Disorder
E. Other Pediatric Disease congenital heart defects
II. Trauma - Anti-convulsant, mental and physical
III. Infection damage
IV. Neoplasia ❖ Ethanol (FAS) (fetal alcohol syndrome) – can
V. Nutritional cause miscarriage, growth/mental retardation
VI. Immunity - Mother is exposed to alcohol
VII. Iatrogenic Causes
VIII. Psychogenic Diseases ● TORCH complex (Toxoplasma, Others, Rubella,
IX. Types of Disease Cytomegalovirus, Herpes Simplex)
X. 4 Aspects of Diseases - Can be transmitted via placenta, blood, body
A. Etiology fluids or breast milk
B. Pathogenesis
C. Morphologic Changes ● Congenital syphilis – can be transmitted from
D. Clinical Significance mother to the child

I. Hereditary

● By genetic factors and to be passed on from parents

to their offspring or descendants.
● Genetic, inborn, innate, inherited, congenital

⮚ Record of patient’s health information

⮚ Information about allergies, illnesses, surgeries,

immunizations, and results of physical exams
and tests, medicines take

A. Developmental Defects
● Anencephaly (failure of neural tube closure)
- It leaves the skull open Mode of Transmission:
- The brain is exposed ❖ Vertically Transmitted
A. Via placenta
B. Via blood, body fluids, or breast milk

B. Cytogenetic Defects (Karyotypic)

● It is the changes/abnormalities in the chromosomes

● Down syndrome – trisomy 21

● Klinefelter’s syndrome – sex chromosome trisomy

(47,XXY karyotype) – male with extra X
chromosome

3MT03 | MAREGMEN, MASAKAYAN, PASCUAL

GPHC LEC: CAUSES OF DISEASE
PROFESSOR/S: Dean Mark Francisco, PhD
THIRD YEAR – 1ST SEMESTER | S.Y 2023 – 2024

● Turner’s syndrome – monosomy (45, X0) loss of X

chromosome (The female individual losses the
chromosome)
Turner’s Syndrome Klinefelter’s Syndrome

3MT03 | MAREGMEN, MASAKAYAN, PASCUAL

 CAUSES OF DISEASE

C. Single- Gene Defects V. Nutritional

● Genes are contained in chromosomes in nucleus
● Fungi (e.g., Athlete’s foot, ringworm)
● DNA segments contain the code for a specific
protein that functions in one or more types of cells in ● Parasites (e.g., Entamoeba coli, Ascaris
the body lumbricoides)

D. Multifunctional Inheritance Disorders

● Cleft lip and cleft palate
- can cause by alcoholism, teratogenic drug and
genetic defects
● Pyloric stenosis
- narrowing of the passageway of the stomach on
the first part of small intestine
● Diabetes mellitus
❖ Type 1: diabetes that is inherited
❖ Type 2: more on lifestyle, diet and late onset
● Hypertension
IV. Neoplasia (New)
● Uncontrolled growth of cell that is not under
physiologic control (benign or malignant)
⮚ Always associated with cancer
⮚ Abnormal functioning of apoptosis is one cause
of cancer
● Tumor or mass lesion – is simply “growth” or
“enlargement”
● Cancer – will become a cancer if it implies
malignancy

● Congenital Heart Disease

- Affects the normal functioning of the heart ● Deficiency
- Abnormality since birth - Starvation
● Coronary Heart Disease - Marasmus vs Kwashiorkor (protein calorie)
- Anemia (Minerals)
- Associated with lifestyle
- Trace elements (selenium, chromium, cobalt,
- Development of waxy substance
iodine, manganese, molybdenum, zinc, copper
- Narrow passage way of blood
- Plaque formation (atherosclerosis) ● Excess (nutritional imbalances)
- Obesity
E. Other Pediatric Diseases - Hypertension
- Atherosclerosis (blockage of veins) – narrowing
of blood vessels due to the formation of plaque
II. Trauma formation
- Heart disease
● Tumor

● Mechanical trauma

● Thermal trauma - too cold or too hot

● Electricity

● Radiation

● Rapid changes in atmospheric pressure - the brain

can only use glucose as a source of energy
VI. Immunity (Immunological Agents)
- Hypoxia – lack of oxygen

III. Infection (Microbial Agents) ● Can protect but can also cause cell injury

● Hypersensitivity reaction:
● Bacteria (e.g., Escherichia coli)
A. Anaphylactic reactions – allergic reactions,
● Rikettsiae severe and life threatening
B. Autoimmune diseases – self-attacking, attacks
● Viruses (e.g., Hepatitis A, dengue) its own immune system

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 CAUSES OF DISEASE

C. LE (Lupus Erythematosus) – cause of the

● “No specific biochemical or morphologic changes in
butterfly rash on the face
common mental diseases”
a. Depression & Schizophrenia due to:
⮚ Mental stress

⮚ Strain

⮚ Anxiety

⮚ Overwork

⮚ Frustration

● Erythroblastosis fetalis
IX. Types of Disease
⮚ First pregnancy: Rh-negative mother having a
baby with Rh-positive father, the first Rh-positive
fetus will develop. The baby has no problem ● Infectious – Can be transmitted from one person to
⮚ Second baby: the second baby will be having another
problem because if the baby is Rh-positive ● Non-infectious – non communicable, non
inherited by the father, the mother will developed transmissible
antibody against Rh-positive. Thus, the antibody
● Psychosomatic - “psychological”
will be attacking the second baby which contain
Rh-positive. ● Hemodynamic - “blood flow”
● Necrotizing vasculitis – describe as vessel wall
necrosis due to neutrophil infiltration ● Thromboembolic - “clot (thrombus)”

●
Idi
● Rheumatoid arthritis – consider as autoimmune disease

● Graft rejection – the body will reject the transplanted tissue or organ

VII. Iatrogenic Causes

● “ P h y s i c i a n a r e b o u

anything that causes harm to patient”

a. Error in judgment – errors in medication, drugs X. 4 Aspects of Disease Processes
or dosages
b. Unwanted effects of therapy opathic – something with unknown etiology
Most common treatment of cancer: radiotherapy A. Etiology
VIII. Psychogenic Diseases

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 CAUSES OF DISEASE

● Cause of disease ● Change in a patient’s clinical status that is regarded

as important
● 3 categories
● Whether or not due to an intervention in the context
⮚ Genetic - genes (structural or functional defect)
of a clinical trial
❖ Cystic fibrosis – formation mucoid substance or
sticky production in the lungs that affects normal FROM TLC PREPARED BY DEAN:
breathing. It can also be seen in the liver, kidney and
pancreas
LIST OF COMMON SINGLE GENE DISORDERS
⮚ Congenital – intact genetic info, embryo’s
intrauterine environment factors that interfere AUTOSOMAL DOMINANT
normal development (e.g., Fetal alcohol 1. Achondroplasia
syndrome) 2. Adult polycystic kidney disease
3. Huntington chorea
⮚ Acquired: largest category 4. Familial hypercholesterolemia
5. Marfan syndrome
B. Pathogenesis 6. Neurofibromatosis
7. Osteogenesis imperfecta
● Biological mechanism 8. Spherocytosis
● Describe the origin & development of disease 9. von Willebrand disease

● Acute, Chronic, Recurrent AUTOSOMAL RECESSIVE

1. Cystic fibrosis
2. Glycogen storage disease
3. Oculocutaneous albinism
4. Phenylketonuria
5. Sickle cell disease
6. Tay-Sachs disease

X-LINKED RECESSIVE
1. Bruton-type hypogammaglobulinemia
2. Hemophilia A
3. Duchenne dystrophy
4. Fragile X syndrome

END
❖ Hyperglycemia should normalized within 2 hrs
❖ Glucagon – increase glucose
● Type 2 Diabetes 3 Main Defects
1. Decreased insulin production
2. The liver produces excess glucose output
3. The muscle is not absorbing glucose
● Hyperglycemia - increased glucose of the blood

C. Morphologic Changes
● Concerned with form and structure of organism

● Consistent patterns of infection, combination,

derivation and change

D. Clinical Significance

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