St.

Paul University Philippines

Tuguegarao City, Philippines, 3500
Tel: 078-846-4444; 078-396-1987 to 1994
Fax: 078-846-4305
www.spup.edu.ph
SCHOOL OF NURSING AND ALLIED HEALTH SCIENCES
Department of Medical Technology

GENERAL PATHOLOGY, HISTOPATHOLOGIC AND CYTOLOGIC

RESEARCH QUESTIONS

INSTRUCTIONS:
Write your answer in short bond paper.
Draw a margin (1/2 inch each side)
Answer must be handwritten.
Submit on April 16, 2020.

TOPIC: GENETIC DISEASES

1. What is genetic disease.

2. Define mutation

3. Causes of Genetic Disease:

Single Gene Mutation Multifactorial Inheritance Chromosomal/

Cytogenetic Disorders

(DEFINE) (DEFINE)
(DEFINE)

4. Single gene mutation follows the Mendellian pattern on inheritance which are:
 Autosomal Dominant
 Autosomal Recessive
 X-linked disorder

Differentiate the three pattern on inheritance.

5. Below are examples of genetic disease that are autosomal dominant.

a) Herediatary Spherocytosis
b) Huntington Disease
c) Von willebrand disease
d) Marfan Syndrome
e) Ehler Danlos Syndrome
f) Osteogenesis imperfecta
g) Familial Hypercholesterolemia
h) Acute Intermittent Porphyria

Research and define each.

6. Below are examples of genetic disease that are autosomal recessive.

a) Cystic Fibrosis
b) Phenylketonuria
c) Galactosemia
d) Thalassemia
e) Hemochromatosis
f) Congenital Adrenal Hyperplasia
g) Alkaptanuria
h) Glycogen Storage Disorders
i) Lysosomal Storage Disorders

Research and define each.

7. Below are examples of X-linked disorders.

a) Glucose 6 phosphate dehydrogenase deficiency

b) Agammaglobulinemia
c) Wiskott Aldrich Syndrome
d) Diabetes Insipidus
e) Lesch Nyhan Syndrome

Research and define each.

8. Define Multifactorial Inheritance and give examples.

9. Chromosomal/ Cytogenetic abnormalities may involve the Autosomes or Sex
chromosomes.

9.1 The following are cytogenetic disorders involving autosomes.

a) Down Syndrome / Trisomy 21

b) Edward Syndrome/ Trisomy 18
c) Patau Syndrome/Trisomy 13

9.2 The following are cytogenetic disorders involving sex chromosomes.

a) Klinefelter Syndrome
b) Turner Syndrome

Research and define each.

 St. Paul University Philippines
Tuguegarao City, Philippines, 3500
Tel: 078-846-4444; 078-396-1987 to 1994
Fax: 078-846-4305
www.spup.edu.ph

SCHOOL OF NURSING AND ALLIED HEALTH SCIENCES

Department of Medical Technology

TOPIC: PEDIATRIC DISEASES

1. What is pediatric disease?

2. The following are examples of pediatric diseases. Define each.

2.1 Congenital anomalies

2.2 Perinatal Infections

 2.3 Prematurity and Fetal growth restriction

 Respiratory Distress Syndrome

 Necrotizing Enterocolitis

2.4 Sudden Infant Death Syndrome

2.5 Fetal Hydrops

St. Paul University Philippines

Tuguegarao City, Philippines, 3500
Tel: 078-846-4444; 078-396-1987 to 1994
Fax: 078-846-4305
www.spup.edu.ph

SCHOOL OF NURSING AND ALLIED HEALTH SCIENCES

Department of Medical Technology

TOPIC: HEMODYNAMIC DISORDERS, THROMBOEMBOLISM AND

SHOCK

Define and Discuss the ff conditions:

1. Hyperemia:

2. Congestion:

3. Edema:

3.1 Give examples of causes of edema

4. Hemorrhage:

4.1 The ff. Are manifestion of hemorrhage: Differentiate them

4.1.1 Petechia
4.1.2 Purpura
4.1.3 Ecchymosis
4.1.4 Epistaxis

5. Thombosis
The primary abnormalities that lead to intravascular thrombosis are (1)
endothelial injury, (2) stasis or turbulent blood flow, and (3) hypercoagulability
of the blood (the so-called “Virchow triad”) . Thrombosis is one of the scourges
of modern man, because it underlies the most serious and common forms of
cardiovascular disease.
• endothelial injury (e.g., by toxins, hypertension, inflammation, or metabolic
products)
• abnormal blood flow, stasis, or turbulence (e.g., resulting from aneurysms,
atherosclerotic plaque)
• hypercoagulability: either primary (e.g., factor V Leiden, increased prothrombin
synthesis, anti-thrombin III deficiency) or secondary (e.g., bed rest, tissue
damage, malignancy)

6. Embolism
• An embolus is a solid, liquid, or gaseous mass carried by the blood to a site distant from its origin; most
are dislodged thrombi.
• Pulmonary emboli derive primarily from lower-extremity deep vein thrombi. Their effects depend mainly
on the size of the embolus and the location in which it lodges. Consequences may include right-sided heart
failure, pulmonary hemorrhage, pulmonary infarction, or sudden death.
• Systemic emboli derive primarily from cardiac mural or valvular thrombi, aortic aneurysms, or
atherosclerotic plaques; whether an embolus causes tissue infarction depends on the site of embolization and
the presence or absence of collateral circulation.
• Fat embolism can occur after crushing injuries to the bones; symptoms include pulmonary insufficiency
and neurological damage. Amniotic fluid embolism may follow childbirth and can give rise to fatal
pulmonary and cerebral manifestations. Air embolism can occur upon rapid decompression, most commonly
in divers; it results from sudden bubbling of nitrogen dissolved in blood at higher pressures.

7. Infarction
• Infarcts are areas of ischemic necrosis most commonly caused by arterial
occlusion (typically resulting from thrombosis or embolization); venous outflow
obstruction is a less frequent cause.
• Infarcts caused by venous occlusion or occurring in spongy tissues typically are
hemorrhagic (red); those caused by arterial occlusion in compact tissues typically
are pale (white).
• Whether or not vascular occlusion causes tissue infarction is influenced by
collateral blood supplies, the rate at which an obstruction develops, intrinsic
tissue susceptibility to ischemic injury, and blood oxygenation.

8. Shock
Shock is a state in which diminished cardiac output or reduced effective
circulating blood volume impairs tissue perfusion and leads to cellular hypoxia
8.1 What are the 3 pathogenic categories of shock.
Cardiogenic shock results from low cardiac output as a result of myocardial
pump failure. It may be caused by myocardial damage (infarction),
ventricular arrhythmias, extrinsic compression (cardiac tamponade) or
outflow obstruction (e.g., pulmonary
embolism).
• Hypovolemic shock results from low cardiac output due to loss of blood
or plasma volume (e.g., resulting from hemorrhage or fluid loss from severe
burns).
• Septic shock is triggered by microbial infections and is associated with
severe systemic inflammatory response syndrome (SIRS). In addition to
microbes, SIRS may be triggered by a variety of insults, including burns,
trauma, and/or pancreatitis.

9. ADDITIONAL QUESTION: Research/ Discuss the process of normal

hemostasis.
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GENERAL PATHOLOGY,
HISTOPATHOLOGIC AND
CYTOLOGIC RESEARCH
QUESTIONS

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(COURSE ,YEAR AND SECTION)

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