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Questions and Answers
What is the primary concern indicated by the chief complaint?
What health risk factor is indicated by the patient's family history?
Which lifestyle factor is most likely contributing to the patient's high LDL levels?
What is the purpose of conducting a blood test in this patient's case?
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What does a high BMI of 27 categorize the patient as?
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What is the primary role of HER2 mutations in non-small cell lung cancer (NSCLC)?
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In which types of cancer is HER2 gene amplification primarily important?
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Which of the following therapies target HER2 receptors specifically?
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What is a consequence of HER2 overexpression in cancer cells?
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How do HER2 inhibitors affect cancer cell signaling?
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What is the function of 'nib' targeted cancer therapies?
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Which method is considered the most accurate for detecting HER-2 overexpression?
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What percentage of NSCLC cases involves KRAS mutations?
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How are BRAF inhibitors typically used in cancer treatment?
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What is a significant reason for the increased demand for molecular genetics specialists?
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What genetic inheritance pattern is primarily associated with familial pulmonary fibrosis?
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Which of the following is a common symptom of primary ciliary dyskinesia (PCD)?
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What is the primary technique used for genetic testing in diagnosing primary ciliary dyskinesia?
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What results from defective ciliary motion in primary ciliary dyskinesia?
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Which of the following genes is associated with primary ciliary dyskinesia?
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What is the prevalence of a specific genetic alteration found in PCD patients compared to the general population?
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Which two populations show a higher prevalence of a specific genetic alteration related to primary ciliary dyskinesia?
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What effect does primary ciliary dyskinesia have on male fertility?
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What percentage of thyroid nodules are classified as thyroid cancer upon diagnosis?
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Which subtype accounts for more than 95% of all thyroid cancers?
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Which of the following factors is NOT considered a risk factor for thyroid cancer?
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What diagnostic method is primarily used to evaluate the shape and size of thyroid nodules?
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Which type of thyroid cancer is recommended to undergo RET mutation testing if there is a family history?
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What symptom is most commonly associated with advanced thyroid cancer?
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Which of the following malignancy indicators is determined by a Fine Needle Aspiration Biopsy (FNAB)?
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Which imaging technique is utilized to evaluate lymph node metastasis and the infiltration of surrounding tissues?
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Study Notes
Chief Complaint: Examination finding of High LDL
- The patient's father died of myocardial infarction at 50 years old.
- The patient eats chicken, pizza, and greasy food.
- The patient does not exercise regularly.
- The patient does not smoke.
- The patient's BMI is 27, considered overweight.
Chest X-ray
- Purpose: To assess the size of the heart and the condition of the lungs, looking for signs of heart enlargement, pulmonary edema (a sign of heart failure), or other lung diseases.
Electrocardiogram (EKG)
- Purpose: To record the electrical activity of the heart, checking the rhythm and rate of the heartbeat.
- It can detect problems such as arrhythmias, heart enlargement, and cardiomyopathy.
Blood tests
- Purpose: To check for various markers of heart disease using several blood tests.
- Cardiac enzyme tests: Measure cardiac enzymes such as troponin to check for heart muscle damage.
- BNP test: Brain natriuretic peptide (BNP) test to determine the possibility of heart failure.
- Electrolyte and kidney function tests: Check for levels of sodium, potassium, and kidney function (BUN, creatinine) to assess problems that may affect heart function.
- Thyroid function tests: Low thyroid function can cause high cholesterol.
HER2
- HER2 gene amplification is mainly an important role in breast cancer and gastric cancer.
- HER2 mutations play an important role in NSCLC.
- Most HER2 mutations occur in exon 20.
- HER2 gene does not bind to specific ligands, but activates by pairing (dimerization) with other EGFR family receptors.
- It leads to uncontrolled signal activation through the same pathway activated by EGFR, which is related to cell growth and metastasis.
HER2 vs. HER1 (EGFR)
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HER2 inhibitors:
- Inhibit overexpression of the HER2 receptor
- Examples: Trastuzumab (Herceptin), Pertuzumab (Perjeta)
- They bind to HER2 receptors and block heterodimer formation, blocking signal transduction and inhibiting tumor cell growth.
- Commonly used for breast and gastric cancer patients.
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EGFR (HER1) inhibitors:
- Drugs that target EGFR mutations
- Examples: Gefitinib (Iressa), Erlotinib (Tarceva), Osimertinib (Tagrisso)
- They bind to EGFR's active domain, preventing EGFR from delivering intracellular signals and inhibiting tumor cell proliferation.
- Mainly used for patients with EGFR mutations in non-small cell lung cancer (NSCLC).
-nib vs -mab
- -nib: Generally refers to small-molecule tyrosine kinase inhibitors (TKIs) that work inside cells and bind to the activation site (ATP binding site) of tyrosine kinase to block phosphorylation reactions.
- -mab: Refers to antibody-based drugs that target HER2 overexpression.
KRAS
- KRAS mutations occur in about 25% of NSCLC and 30% of adenocarcinomas.
- KRAS G12C accounts for approximately 44% of KRAS mutations in NSCLC.
RAF, BRAF
- Vemurafenib (Zelboraf): For cells with BRAF V600E mutation
- Dabrafenib (Tafinlar): For cancer cells with BRAF V600E and V600K mutations
- Encorafenib (Braftovi): Targets BRAF V600E mutation
- BRAF inhibitors are often used in combination with MEK inhibitors, as using BRAF inhibitors alone can lead to resistance by cancer cells through other pathways.
Lung cancer treatment: targeted therapy vs chemotherapy
- Targeted therapy: Targets specific molecules involved in tumor growth.
- Chemotherapy: Kills rapidly dividing cells, both healthy and cancerous.
Molecular genetics experts
- Due to the advent of targeted therapies, there is an increased demand for molecular genetics experts.
- This is because targeted therapies require personalized treatment based on the specific genetic mutations of the patient's cancer.
Familial Pulmonary Fibrosis
- Genetic patterns: Autosomal recessive, autosomal dominant, X-linked, etc.
- Gene-environment interactions:
- It is important to identify individuals at risk and to provide genetic counseling.
Primary Ciliary Dyskinesia (PCD)
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Pathophysiology:
- Genes: Multiple genes. More than 30 genes, including DNAI1, DNAH5, CCDC39.
- Chromosome Location: Varies depending on the gene.
- Protein Abnormalities: Abnormalities in proteins related to the structure or function of cilia.
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Consequences:
- Impaired ciliary motility, leading to reduced mucus clearance ability in the respiratory tract.
- Abnormal sperm flagella, leading to infertility.
- Disruption of left-right symmetry determination during embryonic development.
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Main symptoms:
- Chronic sinusitis and bronchiectasis.
- Infertility (males).
- Situs inversus (about 50% of patients).
- Genetic pattern: Mostly autosomal recessive, some X-linked recessive.
Diagnostic Testing of PCD
- The most common genetic test for diagnosing Primary Ciliary Dyskinesia (PCD) is Next-Generation Sequencing (NGS).
- A study of 20 PCD patients and 1,435 individuals who underwent genetic testing for other diseases found that 15% (3 out of 20) of PCD patients had a specific gene alteration that was not found in the general population (0.49%, 7 out of 1,435).
- The gene alteration was found to be relatively common in Koreans and Japanese, suggesting a founder effect.
Thyroid Cancer
- 5-10% of thyroid nodules are diagnosed as thyroid cancer.
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Thyroid Cancer vs Benign Nodule:
- Thyroid cancer typically grows larger, invades surrounding tissue, and spreads to lymph nodes or distant sites.
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Types of Thyroid Cancer:
- Papillary thyroid cancer accounts for more than 95% of thyroid cancers.
- Other types include follicular, poorly differentiated, undifferentiated, and medullary thyroid cancer.
Risk Factors for Thyroid Cancer
- Receiving radiation treatment to the neck area: Especially during childhood, the risk increases with the degree of exposure.
- Family History:
- Obesity:
How to Prevent Thyroid Cancer
- There is no specific prevention method.
- It is generally recommended to minimize exposure to radiation in the neck area, particularly excessive exposure through CT scans.
- Children should be shielded from radiation exposure to the head and neck.
- If there's a family history of medullary thyroid cancer, RET mutation testing is recommended.
Symptoms of Thyroid Cancer
- Most thyroid cancers are asymptomatic:
- Advanced cases: You may feel a lump (nodule) in your neck.
- Vocal cord paralysis due to tumor invasion: Changes in voice.
- Tumor growth: Difficulty swallowing or shortness of breath.
- Common symptoms such as fatigue, lethargy, or a feeling of something stuck in the throat may not be directly related to thyroid cancer.
Diagnosis of Thyroid Cancer
- Ultrasound: Evaluates the shape and size of thyroid nodules.
- Fine Needle Aspiration Biopsy (FNAB): Tissue samples are taken to determine if the cells are malignant.
- Gene testing: Includes BRAF, RAS, and other mutations in the tumor cells. This testing helps in diagnosis and is more recent.
- Imaging tests: CT scans and ultrasounds can check for lymph node involvement, tissue invasion, and are used to differentiate functional from non-functional nodules.
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Description
Test your knowledge on the key aspects of cardiovascular health by delving into common examinations and tests used for assessment. This quiz covers findings related to high LDL, EKG interpretations, and blood tests. Understanding these concepts is vital for identifying heart disease risk factors.
