NURS 644 Advanced Pathophysiology Exam 1 Study Guide | Genetics,
Cancer, Neurological & Musculoskeletal Disorders |Latest Update with
Complete Solution - Franklin University
Students should also focus on the objectives outlined in each chapter and
the PowerPoints.
General Cell and Molecular Biology
- Neurotransmitter packaging and release mechanisms-
neurotransmitters are packaged within small membrane bound sacs called
synaptic vescicles loated in the presynaptic terminal of a neuron and are
released into the synaptic cleft through a process called exocytosis, where
the vescicles fuse with the cell membrane effectively “dumping” their
transmitter contents when stimulated by an electrical signal.
Key steps: synthesis
Packaging into vescicles
Vescicle docking
Exocytosis
Receptor binding
- DNA inheritance patterns (maternal vs. paternal)- mitochondrial DNA
is inheritied from the maternal, while nuclear DNA is inherited by both.
- Role of antioxidants in cellular protection-neutralizing harmful free
radicals (reactive oxygen species) within the body, preventing damage to
cell components like DNA, protein and lipids. Maintaining cellular integrity
and function and potentially reducing risk of chronic disease associated
with oxidative stress
- Low serum albumin and its effects (e.g., edema)-acts like “magnet” to
blood. Help maintain proper fluid balance by keeping fluid within blood
vessels. Causes of low albumin: liver/kidney disease, malnutrition, severe
burns, inflammatatory conditions. Symptoms: edema, abd distention,
fatigue, loss of appetite, dark urine, jaundice, dry skin.
Genetics and Disease
, - Definitions: homozygous vs. heterozygous gene expression-homo: identical
alleles. Hetero: different alleles.
- BRCA1/BRCA2 mutations and cancer risks- breast ca: BRCA1: 50-
65%males
Gene mutations occur in men/women and inherited by bio kids. Men are
silent carriers. Women increased risk developing cancer. Account for ½ of
families with indentifiable genetic cause of inherited cancer.
- Precancerous findings in biopsies-range from benign neoplasms (tumors)
to dysplasia (cluster of abnormal cells). 85% develop in epithelial cells and
found in skin, mucous membrans, and lining of most organs.
Common precancer (epithelial): cervical intraepithelial neoplaisia (CIN)-
develop to cervical ca
Barrett’s esophagus—esophageal ca
Atypical lobular hyperplasia-breast ca
Adenomatous polyps in colon-colon ca
Actinic keratoses-squamous cell skin ca
Oral epithelial dysplasia-mouth/throat ca
Dysplastic moles-melanoma
Atrophic gastritis-stomach ca
Bowen’s disease-invasive skin ca
Common precancer (non-epithelial): monoclonal gammopathy of
undetermined significance (MGUS)-multiple myeloma
Benign ovarian germ cell tumors-ovarian ca
- Phenylketonuria (PKU): causes and consequences-deficiency of phenylaline
hydroxylase. Causes intellectual disability if untreated. Sx: fail to meet
milestones, microcephaly, neuro decline, seizure, hyperactivity. Dx at
birth/prenatal screen. Tx-dietary rest, oral med, gene/enzyme therapy.,
avoid high protein food.
- Genetic principles: variable expressivity (e.g., neurofibromatosis)
- Inheritance patterns of specific syndromes (e.g., Turner Syndrome, Fragile
X)
Cancer, Neurological & Musculoskeletal Disorders |Latest Update with
Complete Solution - Franklin University
Students should also focus on the objectives outlined in each chapter and
the PowerPoints.
General Cell and Molecular Biology
- Neurotransmitter packaging and release mechanisms-
neurotransmitters are packaged within small membrane bound sacs called
synaptic vescicles loated in the presynaptic terminal of a neuron and are
released into the synaptic cleft through a process called exocytosis, where
the vescicles fuse with the cell membrane effectively “dumping” their
transmitter contents when stimulated by an electrical signal.
Key steps: synthesis
Packaging into vescicles
Vescicle docking
Exocytosis
Receptor binding
- DNA inheritance patterns (maternal vs. paternal)- mitochondrial DNA
is inheritied from the maternal, while nuclear DNA is inherited by both.
- Role of antioxidants in cellular protection-neutralizing harmful free
radicals (reactive oxygen species) within the body, preventing damage to
cell components like DNA, protein and lipids. Maintaining cellular integrity
and function and potentially reducing risk of chronic disease associated
with oxidative stress
- Low serum albumin and its effects (e.g., edema)-acts like “magnet” to
blood. Help maintain proper fluid balance by keeping fluid within blood
vessels. Causes of low albumin: liver/kidney disease, malnutrition, severe
burns, inflammatatory conditions. Symptoms: edema, abd distention,
fatigue, loss of appetite, dark urine, jaundice, dry skin.
Genetics and Disease
, - Definitions: homozygous vs. heterozygous gene expression-homo: identical
alleles. Hetero: different alleles.
- BRCA1/BRCA2 mutations and cancer risks- breast ca: BRCA1: 50-
65%males
Gene mutations occur in men/women and inherited by bio kids. Men are
silent carriers. Women increased risk developing cancer. Account for ½ of
families with indentifiable genetic cause of inherited cancer.
- Precancerous findings in biopsies-range from benign neoplasms (tumors)
to dysplasia (cluster of abnormal cells). 85% develop in epithelial cells and
found in skin, mucous membrans, and lining of most organs.
Common precancer (epithelial): cervical intraepithelial neoplaisia (CIN)-
develop to cervical ca
Barrett’s esophagus—esophageal ca
Atypical lobular hyperplasia-breast ca
Adenomatous polyps in colon-colon ca
Actinic keratoses-squamous cell skin ca
Oral epithelial dysplasia-mouth/throat ca
Dysplastic moles-melanoma
Atrophic gastritis-stomach ca
Bowen’s disease-invasive skin ca
Common precancer (non-epithelial): monoclonal gammopathy of
undetermined significance (MGUS)-multiple myeloma
Benign ovarian germ cell tumors-ovarian ca
- Phenylketonuria (PKU): causes and consequences-deficiency of phenylaline
hydroxylase. Causes intellectual disability if untreated. Sx: fail to meet
milestones, microcephaly, neuro decline, seizure, hyperactivity. Dx at
birth/prenatal screen. Tx-dietary rest, oral med, gene/enzyme therapy.,
avoid high protein food.
- Genetic principles: variable expressivity (e.g., neurofibromatosis)
- Inheritance patterns of specific syndromes (e.g., Turner Syndrome, Fragile
X)
