LE 9 (2027) 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 behavioral difficulties
D. Obesity
B. Paraphilia
Rationale: Paraphilia involves abnormal sexual desires that might be intensified by testosterone treatment, which could exacerbate problematic behaviors. The other conditions, while relevant, do not directly contraindicate testosterone treatment.
DNA-MMR mainly repairs mismatches during?
A. Transcription
B. Translation
C. Replication
D. Elongation
C. Replication
Rationale: DNA mismatch repair (MMR) corrects errors that escape proofreading during DNA replication, ensuring the fidelity of the DNA sequence as it is copied.
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
B. Single gene mutations
Rationale: Recent studies, including those by MacLennan et al., have shown that many cases of cerebral palsy (CP) have a genetic basis, often linked to single gene mutations.
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
A. Determine vertebrate caudal segmentation
Rationale: HOX genes are involved in the development of structures along the anterior-posterior axis, but VACTERL association (vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies) involves disruptions in multiple developmental pathways, not specifically caudal segmentation.
Angelman syndrome and Prader-Willi syndrome arise from?
A. Disomy
B. Trisomy
C. Tetrasomy
D. Aneuploidy
A. Disomy
Rationale: Both syndromes are caused by abnormalities on chromosome 15. Angelman syndrome typically arises from maternal disomy or a deletion/mutation on the maternal chromosome, while Prader-Willi syndrome arises from paternal disomy or a deletion/mutation on the paternal chromosome.
A diagnosis of CHARGE syndrome is confirmed by chromosomal analysis with a gene mutation of?
A. CDH17
B. CDH7
C. CDH77
D. CDH27
B. CDH7
Rationale: CHARGE syndrome is most commonly associated with mutations in the CHD7 gene, which plays a role in chromatin organization and regulation.
The first discovered mutations causing monogenetic FH 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
A. Low-density lipoprotein receptors
Rationale: Familial hypercholesterolemia (FH) is primarily caused by mutations in the LDLR gene, which codes for the low-density lipoprotein receptor responsible for removing LDL cholesterol from the blood.
Majority of DMD gene mutations are caused by?
A. Extragenic suppression
B. Intragenic deletions
C. Extragenic recombination
D. Intragenic interactions
B. Intragenic deletions
Rationale: Duchenne muscular dystrophy (DMD) most commonly results from deletions within the DMD gene, disrupting the reading frame and leading to a lack of functional dystrophin protein.
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
C. Ion Torrent sequencing
Rationale: Ion Torrent sequencing technology is known for its relatively low cost per run and per base, making it a cost-effective choice for many sequencing applications.
The most acceptable theory of the pathogenesis of trisomy 21?
A. Amplified developmental instability
B. Allele dosage
C. Gene-dosage
D. Genome duplication
C. Gene-dosage
Rationale: The gene-dosage hypothesis suggests that the presence of an extra chromosome 21 leads to an overexpression of genes located on this chromosome, contributing to the phenotypic features of Down syndrome (trisomy 21).
Majority of the human body’s hormone is a/an:
A. Peptide
B. Steroid
C. Glycoprotein
D. All of the above
A. Peptide
Rationale: Most hormones in the human body are peptide hormones. Examples include insulin, glucagon, and many others. While there are also steroid and glycoprotein hormones, peptides make up the majority.
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
C. Autocrine
Rationale: Autocrine signaling involves a cell secreting a hormone or chemical messenger that binds to receptors on its own surface, leading to an effect on the same cell.
Which hormone is expected to increase after eating a slice of chocolate mousse?
A. Glucagon
B. Prolactin
C. Insulin
D. Parathyroid hormone
C. Insulin
Rationale: After eating a carbohydrate-rich food like chocolate mousse, blood glucose levels rise, prompting the pancreas to release insulin to help cells absorb the glucose.
Which hormone/s will be released upon stimulation of Thyroid-stimulating hormone?
A. Thyroxine
B. Triiodothyronine
C. Thyrotropin-releasing hormone
D. Only A and B
D. Only A and B (Thyroxine and Triiodothyronine)
Rationale: Thyroid-stimulating hormone (TSH) stimulates the thyroid gland to release the hormones thyroxine (T4) and triiodothyronine (T3).
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
Rationale: The active form of vitamin D, 1,25-dihydroxyvitamin D3 (calcitriol), requires multiple organs for its production, including the skin, liver, and kidneys.
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
C. 3 cyclohexane and 1 cyclopentane
Rationale: Steroid hormones are derived from cholesterol and have a characteristic structure of three cyclohexane rings and one cyclopentane ring.
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
Rationale: Tyrosine is an amino acid that serves as a precursor for hormones like thyroid hormones (which act like steroids) and catecholamines (which act as proteins).
Insulin is a glycoprotein similar to follicle-stimulating hormone. Their common structure includes the following:
A. Alpha subunit
B. Beta subunit
C. Delta subunit
D. All of the above
D. All of the above (Alpha subunit, Beta subunit, Delta subunit)
Rationale: Both insulin and follicle-stimulating hormone (FSH) have alpha and beta subunits as part of their structure. The delta subunit is not typically associated with these hormones, but since the question asks for common structures, alpha and beta subunits are the key components.
The following are second messengers, EXCEPT:
A. Adenylyl cyclase
B. cAMP
C. cGMP
D. Phosphatidylinositol
A. Adenylyl cyclase
Rationale: Adenylyl cyclase is an enzyme that converts ATP to cAMP, which is a second messenger. Therefore, adenylyl cyclase itself is not a second messenger.
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
B. GTP is converted to GDP
Rationale: When a hormone activates a receptor, GTP binds to the G-protein, not the other way around. GDP is initially bound to the G-protein and is replaced by GTP upon activation.
Phospholipase activation by a G protein will result in activation of the following messengers:
A. IP3
B. DAG
C. Both
D. Neither
C. Both (IP3 and DAG)
Rationale: Phospholipase C activation by a G protein results in the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to produce inositol trisphosphate (IP3) and diacylglycerol (DAG), both of which act as secondary messengers.
What hormone uses cGMP as its second messenger?
A. Nitric oxide
B. Oxytocin
C. Growth hormone
D. Thyroid-stimulating hormone
A. Nitric oxide
Rationale: Nitric oxide (NO) activates guanylate cyclase, which converts GTP to cGMP, acting as a second messenger to mediate various physiological processes.
Which of the following hormones is secreted in equimolar amounts with the C-peptide?
A. Catecholamines
B. Thyroxine
C. Parathyroid hormone
D. Insulin
D. Insulin
Rationale: Insulin is secreted in equimolar amounts with C-peptide because they are both derived from the cleavage of proinsulin.
Which of the following hormones is synthesized in its active form and stored in granules before being released into circulation through exocytosis?
A. Catecholamines
B. Parathyroid hormone
C. Insulin
D. Thyroid hormone
A. Catecholamines
Rationale: Catecholamines (such as epinephrine and norepinephrine) are synthesized in their active form, stored in secretory granules, and released through exocytosis.
Which of the following hormones are stored and can supply the body during fasting (lasting up to weeks)?
A. Thyroxine
B. Parathyroid hormone
C. Insulin
D. None of the above
A. Thyroxine
Rationale: Thyroxine (T4) is stored in the thyroid gland in large quantities and can supply the body for weeks during fasting conditions.
How can receptors be differentiated with transport?
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
C. Receptors are able to induce signal transduction
Rationale: Receptors can be differentiated from transport proteins by their ability to induce signal transduction upon binding with a ligand.
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 directly affect the transcription of activated protein
D. Only A and B
D. Only A and B (To circumvent the problem of solubility and to prolong the half-life of the hormone)
Rationale: Hormones, especially lipophilic ones, need carrier proteins to improve their solubility in blood and to prolong their half-life by protecting them from rapid degradation.
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
B. Water soluble
Rationale: Hormones that bind to cell surface receptors are generally water soluble because they cannot easily cross the lipid bilayer of cell membranes.
Which of the following hormones DO NOT bind to a cell surface receptor?
A. Glucagon
B. Thyroxine
C. Somatostatin
D. Thyroid-stimulating hormone
B. Thyroxine
Rationale: Thyroxine (T4) is a lipophilic hormone that binds to intracellular receptors rather than cell surface receptors.
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
A. Lipophilic
Rationale: Hormones that bind to intracellular receptors are typically lipophilic, allowing them to cross the cell membrane and interact with receptors inside the cell.
Which of the following hormones bind to an intracellular receptor?
A. Androgen
B. Nitric oxide
C. Calcitonin
D. Anti-diuretic hormone
A. Androgen
Rationale: Androgens, such as testosterone, are steroid hormones that are lipophilic and can cross the cell membrane to bind to intracellular receptors.
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
C. Free hormone
Rationale: The free form of a hormone is the biologically active form because it is not bound to a carrier protein and is available to interact with target cells.
Among hormones that bind to 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
A. Hormone itself
Rationale: The hormone itself acts as the first messenger by binding to the cell surface receptor and initiating a signaling cascade inside the cell.
If the Inositol 1,4,5-triphosphate (IP3) is stimulated, what would increase intracellularly?
A. ADP
B. Ca2+
C. K+
D. Na+
B. Ca2+
Rationale: IP3 stimulates the release of calcium ions (Ca2+) from intracellular stores, increasing intracellular calcium levels.
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
A. Group I hormones
Rationale: Group I hormones, which include steroid and thyroid hormones, bind to intracellular receptors that then interact with hormone response elements (HREs) on DNA to regulate gene transcription.
Inadequate intake of iodine may cause the following EXCEPT:
A. Goiter
B. Hypothyroidism
C. Cretinism
D. Wilson’s disease
D. Wilson’s disease
Rationale: Wilson’s disease is a genetic disorder related to copper metabolism, not iodine deficiency. Inadequate iodine intake can lead to goiter, hypothyroidism, and cretinism.
Principal cation in the intracellular fluid compartment:
A. Potassium
B. Sodium
C. Copper
D. Phosphorus
A. Potassium
Rationale: Potassium is the principal cation in the intracellular fluid compartment, playing a crucial role in cell function and electrical signaling.
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 manifest as brittle bones due to demineralization
D. Induces synthesis of transport proteins for calcium in intestinal mucosa
C. Rickets manifest as brittle bones due to demineralization
Rationale: Rickets manifests as soft, weak bones due to poor mineralization, not brittle bones. Brittle bones are more characteristic of conditions like osteogenesis imperfecta.
Pernicious anemia is the classic consequence of:
A. Thiamine deficiency
B. Cobalamin deficiency
C. Pantothenic acid deficiency
D. Folic acid deficiency
B. Cobalamin deficiency
Rationale: Pernicious anemia is caused by a deficiency of vitamin B12 (cobalamin), often due to a lack of intrinsic factor required for its absorption.
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
Rationale: Pyridoxine (vitamin B6) deficiency can be indicated by increased urinary excretion of cystathionine, decreased urinary excretion of pyridoxic acid, and increased excretion of xanthurenic acid following a tryptophan load.