Exam 1 Patho Concept
PATHOPHYSIOLOGY; CAUSE/RISK; MANIFESTATIONS- BE ABLE TO APPLY THE INFORMATION (THIS MEANS
GIVE EXAMPLES OR SITUATIONS THAT MAY BE AFFECTED) Focus on making the connection.
CH 2:
Cellular regeneration-
Necrosis- CELL DEATH due to injury
obesity-
Atrophy: Cells revert to smaller size due to reduction in metabolic demand
Ex: paralysis causing shrinking of skeletal muscle
Hypertrophy- Increase in individual cell size
Types of Hypertrophy:
physiological - cell enlargement with adequate supporting tissues
Ex: enlargement of cardiac cells with exercise training
Pathological- increase in cell size, without increase in support structure
Ex: enlargement of heart tissue due to hypertension
Dysplasia- Deranged cellular growth
-often a result of chronic inflammation or a precancerous condition
-cells vary in size, shape, and organization compared with normal
Ex: cervical dysplasia detected by Pap test
Metaplasia- Replacement of one cell type with another
-genetic reprogramming to ensure cell survival
Ex: GERD
-lower esophageal cells transform from squamous epithelium to columnar stomach-like cells
CH 3:
Huntington’s disease:
Autosomal Dominant
Huntington Protein (HTT) disrupted by trinucleotide repeats (CAG)
NO CURE.
Clinical presentation: a movement disorder, cognitive disorder, behavior disorder.
-- chorea is the most common movement disorder. (dance-like movement progressing to flailing)
, Develop symptoms between 35-44 years old.
Antidepressants, antipsychotic medications, and anticonvulsants are common management strategies.
Down Syndrome:
Most common chromosomal disorder.
Trisomy 21.
Wide variety of severity
Flat facial profile, epicanthic folds around the eyes
80% have IQ of 25-50
Cystic Fibrosis:
Autosomal Recessive
Most common lethal inherited disease in caucasians.
Defect in cystic fibrosis transmembrane conductive regulator gene (CFTR)
Disrupts lung function (excess mucus) and pancreatic secretions (malabsorption of nutrients)
→ newborns are screened in the U.S.
Treatment: includes pancreatic pancreatic enzyme supplements, bronchodilators, mucolytics,
nutritional supplements.
→ End stage lung disease is the principal cause of death.
Marfan’s syndrome:
Autosomal dominant. Can result from sporadic mutation
-connective tissue disorder
Fibrillin-1 (FBN1) gene mutation on chromosome 15.
-Damage to fibrillin affects microfibrils which are structural components of aorta, heart valves, lungs, dura mater
Signs and symptoms:
-Tall stature
-kyphoscoliosis
-ligament hypermobility
-Heart murmur
-dysrhythmia
Cardiovascular disease, mainly aortic dilation and dissection, are a major cause of morbidity.
→ if untreated, average death is between 30-40 years old. / prevention procedure are necessary.
CH 4:
General overview
CH 5:
Anorexia Nervosa - Eating disorder characterized by an individual who refuses to maintain minimal
standard body weight. BMI bellow 17.5
PATHOPHYSIOLOGY; CAUSE/RISK; MANIFESTATIONS- BE ABLE TO APPLY THE INFORMATION (THIS MEANS
GIVE EXAMPLES OR SITUATIONS THAT MAY BE AFFECTED) Focus on making the connection.
CH 2:
Cellular regeneration-
Necrosis- CELL DEATH due to injury
obesity-
Atrophy: Cells revert to smaller size due to reduction in metabolic demand
Ex: paralysis causing shrinking of skeletal muscle
Hypertrophy- Increase in individual cell size
Types of Hypertrophy:
physiological - cell enlargement with adequate supporting tissues
Ex: enlargement of cardiac cells with exercise training
Pathological- increase in cell size, without increase in support structure
Ex: enlargement of heart tissue due to hypertension
Dysplasia- Deranged cellular growth
-often a result of chronic inflammation or a precancerous condition
-cells vary in size, shape, and organization compared with normal
Ex: cervical dysplasia detected by Pap test
Metaplasia- Replacement of one cell type with another
-genetic reprogramming to ensure cell survival
Ex: GERD
-lower esophageal cells transform from squamous epithelium to columnar stomach-like cells
CH 3:
Huntington’s disease:
Autosomal Dominant
Huntington Protein (HTT) disrupted by trinucleotide repeats (CAG)
NO CURE.
Clinical presentation: a movement disorder, cognitive disorder, behavior disorder.
-- chorea is the most common movement disorder. (dance-like movement progressing to flailing)
, Develop symptoms between 35-44 years old.
Antidepressants, antipsychotic medications, and anticonvulsants are common management strategies.
Down Syndrome:
Most common chromosomal disorder.
Trisomy 21.
Wide variety of severity
Flat facial profile, epicanthic folds around the eyes
80% have IQ of 25-50
Cystic Fibrosis:
Autosomal Recessive
Most common lethal inherited disease in caucasians.
Defect in cystic fibrosis transmembrane conductive regulator gene (CFTR)
Disrupts lung function (excess mucus) and pancreatic secretions (malabsorption of nutrients)
→ newborns are screened in the U.S.
Treatment: includes pancreatic pancreatic enzyme supplements, bronchodilators, mucolytics,
nutritional supplements.
→ End stage lung disease is the principal cause of death.
Marfan’s syndrome:
Autosomal dominant. Can result from sporadic mutation
-connective tissue disorder
Fibrillin-1 (FBN1) gene mutation on chromosome 15.
-Damage to fibrillin affects microfibrils which are structural components of aorta, heart valves, lungs, dura mater
Signs and symptoms:
-Tall stature
-kyphoscoliosis
-ligament hypermobility
-Heart murmur
-dysrhythmia
Cardiovascular disease, mainly aortic dilation and dissection, are a major cause of morbidity.
→ if untreated, average death is between 30-40 years old. / prevention procedure are necessary.
CH 4:
General overview
CH 5:
Anorexia Nervosa - Eating disorder characterized by an individual who refuses to maintain minimal
standard body weight. BMI bellow 17.5
