LE 9 (2024) Flashcards
- Once diagnosed with hypersexual desire in a 47 XXY patient, treatment with testosterone is safe if the patient did not exhibit which of the following?
A. Markedly increased libido
B. Paraphilia
C. Learning and behavioural difficulties
D. Obesity
Learning and behavioural difficulties
- DNA-MMR mainly repairs mismatches during?
A. Transcription
B. Translation
C. Replication
D. Elongation
Replication
- According to MacLennan et al., the majority of cases of CP, after using new generation exome sequencing, are caused by:
A. Causative mutations
B. Single gene mutations
C. Copy number variations
D. Acute intrapartum hypoxia
Acute intrapartum hypoxia
- HOX gene implicated in the development of VACTERL, except:
A. Determine vertebrate caudal segmentation
B. Implicated from animal models
C. Involved in genitourinary development
D. Involved in gastrointestinal development
Involved in gastrointestinal development
- Angelman syndrome and Prader-willi syndrome arises from?
A. Disomy
B. Trisomy
C. Tetrasomy
D. Aneuploidy
Disomy
- A diagnosis of CHARGE syndrome is confirmed by chromosomal analysis with gene mutation of?
A. CDH17
B. CDH7
C. CDH77
D. CDH27
B. CDH7
- The first discovered mutations causing monogenetic H accounting for more than 80% are mutations of the:
A. Low density lipoprotein receptors
B. Proprotein convertase subtilisin
C. Apo B100 mRNA
D. Founder mutations
Low density lipoprotein receptors
- Majority of DMD gene mutations are caused by?
A. Extragenic suppression
B. Intragenic deletions
C. Extragenic recombination
D. Intragenic interactions
Intragenic deletions
- The least expensive instrument and assay cost are generated by which of the following DNA sequencing machines?
A. Illumina 454
B. SOLiD
C. Ion Torrent sequencing
D. Ion Personal Genome machine
Ion Personal Genome machine
- The most acceptable theory of the pathogenesis of trisomy 21?
A. Amplified developmental instability
B. Allele dosage
C. Gene-dosage
D. Genome duplication
Gene-dosage
- Majority of the human body’s hormone is a/an:
A. Peptide
B. Steroid
C. Glycoprotein
D. All of the above
All of the above
- If the substance has an effect on the cell which produced and secreted it, it is called a/an:
A. Endocrine
B. Paracrine
C. Autocrine
D. All of the above
Autocrine
- Which hormone is expected to increase after eating a slice of chocolate mousse?
A. Glucagon
B. Prolactin
C. Insulin
D. Parathyroid hormone
Insulin
- Which hormone/s will be released upon stimulation of the Thyroid stimulating hormone?
A. Thyroxine
B. Triiodothyronine
C. Thyrotropin releasing hormone
D. Only A and B
Only A and B
- Which hormone requires more than one organ for its production?
A. Glucagon-like peptide
B. 1,25 (OH)2-D3
C. Calcitonin
D. Angiotensin II
B. 1,25 (OH)2-D3
- The characteristic structure of hormones derived from cholesterol includes the following:
A. 3 cyclopentane and 1 cyclohexane
B. 4 cyclopentane and 1 cyclohexane
C. 3 cyclohexane and 1 cyclopentane
D. 4 cyclohexane and 1 cyclopentane
3 cyclohexane and 1 cyclopentane
- What amino acid is a chemical building block that acts like a protein and sometimes like a steroid?
A. Proline
B. Tryptophan
C. Tyrosine
D. Valine
C. Tyrosine
- Insulin is a glycoprotein similar to follicle-stimulating hormone, luteinizing hormone and thyroid-stimulating hormone. Their similarity lies in the:
A. Alpha subunit
B. Beta subunit
C. Delta subunit
D. All of the above
Alpha subunit
- The following are second messengers, EXCEPT:
A. Adenylyl cyclase
B. CAMP
C. cGMP
D. Phosphatidylinositol
Adenylyl cyclase
- If a hormone activates a receptor, the following events occur, EXCEPT:
A. Receptor will have a conformational change
B. GTP is converted to GDP
C. G-protein complex is activated
D. Alpha subunit binds to and activates the effector cell
B. GTP is converted to GDP
- Phospholipase activation by a G protein will result in activation of the following messengers:
A. IP3
B. DAG
C. Both
D. Neither
A. IP3
- What hormone uses cGMP as its second messenger?
A. Nitric oxide
B. Oxytocin
C. Growth hormone
D. Thyroid stimulating hormone
Nitric oxide
- Which of the following hormones is secreted in equimolar amounts with the C-peptide?
A. Catecholamines
B. Thyroxine
C. Parathyroid hormone
D. Insulin
Insulin
- Which of the following hormones is synthesized in its active form and are stored in granules before being released into circulation through exocytosis?
A. Catecholamines
B. Thyroxine
C. Parathyroid hormone
D. Insulin
Insulin
- Which of the following hormones are stored and can supply body the longest (lasting up to weeks)?
A. Catecholamines
B. Thyroxine
C. Parathyroid hormone
D. Insulin
Thyroxine
- How can receptors be differentiated with transport proteins?
A. Receptors are highly reversible
B. Receptors are highly concentrated
C. Receptors are able to induce signal transduction
D. Receptors have very low binding affinity to cells
Receptors are able to induce signal transduction
- Which of the following explains the need for hormones to be associated with a plasma carrier protein?
A. To circumvent the problem of solubility
B. To prolong the half-life of the hormone
C. To be directly affect the transcription of protein being activated
D. Only A and B
Only A and B
- Which of the following is related to hormones that bind to a cell surface receptor?
A. Lipophilic
B. Water soluble
C. Associated with plasma carrier protein
D. Can easily cross the cell membrane
Water soluble
- Which of the following hormones DO NOT bind to a cell surface receptor?
A. Glucagon
B. Thyroxine
C. Somatostatin
D. Thyroid stimulating hormone
Thyroxine
- Which of the following is related to hormones that bind to an intracellular receptor?
A. Lipophilic
B. Short plasma half-life
C. Protein and polypeptide type
D. Mediated by cAMP or cGMP
Lipophilic
- Which of the following hormones bind to an intracellular receptor?
A. Androgen
B. Nitric oxide
C. Calcitonin
D. Anti-diuretic hormone
Androgen
- Which of the following are considered to be the biologically active form of hormones?
A. Bound to plasma transport protein
B. Bound to plasma carrier protein
C. Free hormone
D. Only A and B
Free hormone
- Among hormones that bind to the cell surface receptors, which would act as the first messenger?
A. Hormone itself
B. Carrier protein of the hormone
C. Effector cells
D. G protein-coupled receptor
G protein-coupled receptor
- If the Inositol 1,4,5 triphosphate (IP3) is stimulated, what would increase intracellularly?
A. ADP
B. Ca
C. K+
D. Na
Ca
- Which hormone when activated would bind with high affinity to specific DNA sequences called hormone response element (HRE)?
A. Group I hormones
B. Group II hormones
C. Both
D. Neither
Group II hormones
- Inadequate intake of iodine may cause the following, EXCEPT:
A. Goiter
B. Hypothyroidism
C. Cretinism
D. Wilson’s disease
Wilson’s disease
- Principal cation in the intracellular fluid compartment:
A. Potassium
B. Sodium
C. Copper
D. Phosphorus
Potassium
- True of vitamin D, EXCEPT:
A. D2 is the form which is vegetable in origin
B. D3 is the form which is animal in origin
C. Rickets manifests as brittle bones due to demineralization
D. Induces synthesis of transport proteins for calcium in intestinal mucosa
C. Rickets manifests as brittle bones due to demineralization
- Pernicious anemia is the classic consequence of:
A. Thiamine deficiency
B. Cobalamin deficiency
C. Pantothenic acid deficiency
D. Folic acid deficiency
Cobalamin deficiency
- Which of the following is a biochemical indicator of pyridoxine deficiency?
A. Increased urinary excretion of cystathionine
B. Decreased urinary excretion of pyridoxic acid
C. Increased excretion of xanthurenic acid following tryptophan load
D. All of the above
D. All of the above
- Which of the following is NOT true of Biotin?
A. It is used as a prosthetic group in enzymatic reactions
B. Biotinidase is the enzyme that links the free carboxyl group of biotin to an enzyme
C. Prolonged intake of antibiotics decreases source of biotin
D. Avidin prevents biotin absorption because of its high affinity with biotin
B. Biotinidase is the enzyme that links the free carboxyl group of biotin to an enzyme
- Which of the following is a precursor in the synthesis of CoA?
A. Niacin
B. Biotin
C. Thiamine
D. Pantothenic acid
Pantothenic acid
- Which is NOT true of niacin?
A. Essential factor in biosynthesis of NAD+ andNADP+
B. Has a plasma cholesterol-lowering effect
C. Deficiency of niacin causes beriberi
D. Derived from the catabolism of tryptophan
Deficiency of niacin causes beriberi
- The following are macrominerals, EXCEPT:
A. Phosphorus
B. Potassium
C. Sodium
D. Fluoride
Fluoride
- Which of the following tend to lower both HDL and LDL:
A. Polyunsaturated fatty acids
B. Saturated fatty acids
C. Monounsaturated fatty acids
D. None of the above
Polyunsaturated fatty acids
- The following are macronutrients, EXCEPT:
A. Triglycerides
B. Carbohydrates
C. Proteins
D. Vitamins
Vitamins
- Factor/s increasing basal metabolic rate:
A. 2,4-dinitrophenol
B. Thyroid hormones
C. Obesity
D. Infancy
E. All of the above
E. All of the above
- Specific dynamic action of food:
A. Energy used during digestion, absorption and metabolism of food
B. Energy needed to maintain basic physiologic functions under standard conditions
C. Energy used during movement and muscle contraction
D. Energy used for muscles and growth of body organs
Energy used during digestion, absorption and metabolism of food
- Basal metabolic rate:
A. Energy used during digestion, absorption and metabolism of food
B. Energy needed to maintain basic physiologic functions under standard conditions
C. Energy used during movement and muscle contraction
D. Energy used for muscles and growth of body organs
Energy needed to maintain basic physiologic functions under standard conditions
- Wernicke-korsakoff syndrome:
A. Defective transketolase enzyme
B. Seen primarily in alcoholics
C. Masked chronic thiamine deficiency
D. All of the above
E. B & C only
All of the above
- TRUE of triglycerides, EXCEPT:
A. Has a high satiety value
B. Supply essential unsaturated fatty acids
C. Serve as carriers of fat soluble vitamins
D. Provide 7 kcal/gram of energy
D. Provide 7 kcal/gram of energy
- Defined as the minimum daily intake of protein needed to meet the needs for normal maintenance:
A. Recommended daily dietary allowance
B. Biologic value of proteins
C. Protein requirement
D. Protein balance
C. Protein requirement
- Examples of conditions exhibiting negative nitrogen balance, EXCEPT:
A. Pregnancy
B. Fasting
C. Debilitating diseases
D. Kwashiorkor
E. Burn patients
Pregnancy
- Which is NOT an essential amino acid:
A. Valine
B. Lysine
C. Methionine
D. Tryptophan
E. Alanine
Alanine
- Biotin is involved in which of the following types of reactions?
A. Hydroxylations
B. Carboxylations
C. Decarboxylations
D. Dehydrations
Carboxylations
- A 3 month old boy presents with poor feeding and growth, hypotonia, lactic acidemia and mild acidosis. The pyruvate to lactate ratio is high and there is decreased conversion of pyruvate to Acetyl CoA. Which of the following may be considered for therapy?
A. Thiamine
B. FFA
C. Biotin
D. Vitamin C
Thiamine
- Which of the following conditions would primarily produce a functional deficiency of Vitamin K?
A. Coumadin therapy
B. Broad spectrum antibiotic
C. Premature birth
D. Lack of red meat in the diet
Coumadin therapy
- A deficiency of vitamin B12 causes:
A. Cheilosis
B. Beriberi
C. Pernicious anemia
D. Scurvy
Pernicious anemia
- The following is/are true of dietary fiber, except:
A. Dietary fiber consists of cellulose, lignin and pectin
B. Provides approximately 7 kcal of energy from the diet
C. Adds bulk to stool
D. Can absorb 10 - 15 times its own weight in water
Provides approximately 7 kcal of energy from the diet
- Considered as the most abundant mineral in the body:
A. Iron
B. Chloride
C. Fluoride
D. Calcium
Calcium
- The following are considered macronutrients, except:
A. Polysaccharides
B. Triglycerides
C. Calcium
D. Amino acids
Calcium
- Which of the following vitamins would most likely become deficient in a person who develops a completely carnivorous lifestyle?
A. Thiamine
B. Niacin
C. Cobalamin
D. Vitamin C
Vitamin C
- Humans most easily tolerate a lack of which of the following nutrients?
A. Protein
B. lodine
C. Carbohydrate
D. Lipid
Carbohydrate
- What is an important function of fiber?
A. It adds flavor to food
B. It aids in the absorption of fat-soluble vitamins
C. It is an important energy source in the absence of lipids
D. It can bind toxigenic substances
It can bind toxigenic substances
- If there is a dysfunction in the oxidase enzyme system (like cytochrome oxidase, ascorbic acid oxidase), which mineral is most likely affected?
A. Zinc
B. Chloride
C. Selenium
D. Copper
Copper
- After an overnight fast, a diabetic woman feels nauseous and skips breakfast but takes her insulin shot. This results in:
A. Increased glycogenolysis
B. Hypoglycaemia
C. Increased lipolysis
D. Glycosuria
Hypoglycaemia
- The following are true of steroid hormone action, EXCEPT:
A. Hydrophobic steroid hormones bound to plasma protein carriers diffuse into the target cell
B. Steroid hormone receptors are in the cytoplasm or nucleus
C. The receptor-hormone complex binds to DNA and affects the genes
D. Activated genes produce new mRNA that moves back into the cytoplasm
Activated genes produce new mRNA that moves back into the cytoplasm
- Type I intracellular receptor:
A. Glucocorticoid receptor
B. Thyroid hormone receptor
C. Retinoid receptor
D. Vitamin D receptor
Thyroid hormone receptor
- Hormone that affects thyroid hormone synthesis and release:
A. ADH
B. TSH
C. ACTH
D. Prolactin
TSH
- Increased reabsorption of water from the kidney is due to:
A. Cortisol
B. Insulin
C. Vasopressin
D. Glucagon
Vasopressin
- The term used for any abnormal new growth of tissue which may be benign or malignant in nature
A. Cancer
B. Neoplasm
C. Malignancy
D. Disease
Neoplasm
- It is estimated that 80% of human cancers are caused by these carcinogens.
A. Radiant energy
B. Chemicals
C. Oncogenic viruses
D. None
Chemicals
- The ability of cancer to invade and spread to other tissues.
A. Metastasis
B. Angiogenesis
C. Apoptosis
D. Uncontrolled growth
Metastasis
- These carcinogens act by introducing novel genes into normal cells.
A. Radiant energy
B. Chemicals
C. Oncogenic viruses
D. None of the above
Oncogenic viruses
- Which statement is not associated with an enhanced risk of developing skin cancer?
A. Increases with increased frequency of exposure
B. Increases with increased intensity of exposure
C. Increases with increased melanin content of skin
D. Increases depending on the time of exposure to the sun
Increases with increased melanin content of skin
- Chemical carcinogens can be identified by their mutagenicity by the following assay/s.
A. Ames assay
B. Lincoln assay
C. Burkitt’s assay
D. All are correct
Ames assay
- Epstein-Barr virus is known to cause which malignancy?
A. Hepatocellular carcinoma
B. Kaposi’s sarcoma
C. Cervical carcinoma
D. Burkitt’s lymphoma
B. Kaposi’s sarcoma
- These encode various proteins that drive the growth of cancer cells.
A. Procarcinogen
B. Proto-oncogenes
C. Tumor suppressor genes
D. Oncogenes
Oncogenes
- These encode proteins that normally suppress cell growth but inactivated when altered by mutations.
A. Procarcinogen
B. Proto-oncogenes
C. Tumor suppressor genes
D. Oncogenes
Tumor suppressor genes
- Also named as the “guardian of genome” and it is noted to be mutated in some 50% of human tumors
A. MYC
B. P53
C. RAS
D. RB
P53
- Procarcinogens need to be activated by an enzyme to become which of the following?
A. True carcinogens
B. Ultimate carcinogens
C. Pre-carcinogens
D. All of the above
Ultimate carcinogens
- A mechanism of oncogene activation where in a piece of one chromosome is split off and joined to another like in Burkitt’s lymphoma.
A. Promoter insertion
B. Chromosomal translocation
C. Gene amplification
D. Enhancer insertion
Chromosomal translocation
- Abnormal multiplication of a gene resulting in many copies.
A. Promoter insertion
B. Chromosomal translocation
C. Gene amplification
D. Enhancer insertion
Gene amplification
- Which is not a feature of oncogenes?
A. Mutations in one of the two alleles is sufficient
B. Gain of function of a protein that signals cell division
C. Often with strong tissue preference
D. All are correct
C. Often with strong tissue preference
- A family of oncogenes encoding small GTPases and they were initially identified in certain murine sarcoma viruses.
A. MYC
B. P53
C. RAS
D. RB
RAS
- A chromosomal instability wherein the chromosomal number of a cell is not a multiple of the haploid number.
A. Microsatellite instability
B. Aneuploidy
C. Telomerase defect
D. Spindle assembly defect
Aneuploidy
- A pathologic form of cell death that is not generally programmed.
A. Apoptosis
B. Mutation
C. Necrosis
D. None of the above
Necrosis
- This is the effector that digests important structural proteins and is common in both the extrinsic and intrinsic pathway of apoptosis.
A. Caspase-9
B. Caspase-3
C. Caspase-8
D. APAF-1
Caspase-3
- The stimulant of angiogenesis.
A. HIF-1
B. EGF
C. VEGF
D. PDGE
VEGF
- Calcitonin is a tumor biomarker that is associated with.
A. Hepatocellular carcinoma
B. Myeloma
C. Medullary carcinoma of thyroid
D. Germ cell tumor
Medullary carcinoma of thyroid
- Imatinib, a tyrosine kinase inhibitor, belongs to which if the following classes of drugs?
A. Inhibitors of signal transduction
B. Monoclonal antibodies
C. Inhibitors of hormone receptors
D. Anti-angiogenesis agents
E. Biologic response modifiers
Inhibitors of signal transduction
- Cells show diminished control of growth.
A. Malignant Tumors
B. Benign Tumors
C. Both
D. Neither
C. Both
- These do not invade the local tissue nor spread to other parts of the body.
A. Malignant Tumors
B. Benign Tumors
C. Both
D. Neither
Benign Tumors
- Metastasis is generally responsible for the death of patients.
A. Malignant Tumors
B. Benign Tumors
C. Both
D. Neither
Malignant Tumors
- Proliferate rapidly and display diminished growth control.
A. Malignant Tumors
B. Benign Tumors
C. Both
D. None
Malignant Tumors
- A proto-oncogene can become an oncogene when:
A. It is shut off
B. It is translocated next to a highly expressed gene
C. Growth factors decrease cell division rate
D. A person is exposed to pesticides
It is translocated next to a highly expressed gene
- Loss of tumor suppression in a cell usually results from:
A. Cytokine activation of a tumor suppressor gene
B. A translocation of a tumor suppressor gene
C. An inversion involving a tumor suppressor gene
D. A deletion of a tumor suppressor gene
A deletion of a tumor suppressor gene
- The following are functions of proto-oncogenes EXCEPT:
A. Intracellular growth hormones
B. Transmembrane growth factors
C. Intracellular signal transduction
D. Intranuclear transcription factors
Transmembrane growth factors
- The following are tumor markers, EXCEPT:
A. CEA (Carcinoembryonic Antigen)
B. AFP (Alpha fetoprotein)
C. Norepinephrine
D. Acid phosphatase (PAP)
Norepinephrine
- Growth of new blood vessels in and around tumors is called:
A. Invasiveness
B. Angiogenesis
C. Metastasis
D. Dedifferentiation
Angiogenesis