Clinical Integration 2 Student Questions

A patient presents to the office struggling with depression. The physician prescribes a drug that inhibits a mitochondrial outer-membrane enzyme expressed in neurons. What isoform of the enzyme the prescribed drug is inhibiting plays a role in tyramine toxicity? A. COMT B. VMAT C. MAO-B D. MAO-A E. DOPA-L

D. MAO-A

A 14-year-old girl presents to her pediatrician's office with her father after losing her balance and falling during cheerleading practice. Her father explains that he is nervous because he was diagnosed with a genetic disease as a child, and displays several flat, pigmented spots along his back. Upon examination and testing, the pediatrician states that the patient, with an otherwise benign physical exam, has the same genetic condition as her father, despite lacking the spots on her skin that he has. He then explains that the loss of balance was likely due to tumors from the condition, and that the gene for their condition encodes for a specific protein. What disease does the patient and her father have, and what protein does the gene for the disease encode? A. Cystic Fibrosis. Neurofibromin B. Marfan syndrome. Schwannomin/Merlin C. Neurofibromatosis Type 1. Fibrillin D. Neurofibromatosis Type 2. Schwannomin/Merlin E. Phenylketonuria. Phenylalanine Hydroxylase

D. Neurofibromatosis Type 2. Schwannomin/Merlin

Marfan Syndrome, an autosomal dominant that affects the eye, the skeleton, and the cardiovascular system. Majority of Marfan syndrome cases are caused by mutation in the gene that encodes fibrillin, a component of connective tissue that is expressed in most tissues and organs affected by Marfan syndrome. Genes that exert effects on multiple aspects of physiology or anatomy are referred to as: A. Variable Expression B. Reduced Penetrance C. Germline Mosaicism D. Pleiotropy E. Locus Heterogeneity

D. Pleiotropy

A 13-year-old male presents to the urgent care with his parents after he sustained an injury while playing football with his friends the day before. Upon examination, a metaphyseal fracture of the forearm is suspected, and an X-ray is performed. Imaging confirms a fractured ulna, but absence of the radius is also noted. Previous medical history also reveals that the patient had an atrial septal defect which was corrected with surgery. The physician suspects a genetic mutation may be the cause of the boy's heart and hand defects. Which of the following genes is most likely mutated? A. SHH B. TBX4 C. PITX1 D. TBX5 E. HOXA13

D. TBX5

A 2 year old patient presents to his pediatrician after being recently diagnosed with Fragile X Syndrome. Which of the following best describes the genetic anomaly that causes this disorder? A. A mutation within the noncoding sequence B. A chromosomal alteration C. There are several polymorphisms that contribute D. Trinucleotide repeat mutation E. A point mutation within a coding sequence

D. Trinucleotide repeat mutation

A 3-year-old patient has recently been diagnosed with a genetic disorder characterized by intellectual disability, long thin face, and large ears. This disorder is caused by a mutation that exhibits amplification, and affects the regulatory region of the FMR-1 gene. Which option best describes the type of mutation present? A. Point mutation within coding sequence B. Frameshift mutation C. Deletion within non-coding sequence D. Trinucleotide-repeat mutation E. Deletion within coding sequence

D. Trinucleotide-repeat mutation

A 70-year old male is at his PCPs office for a routine physical. The physician performs a prostate exam and notes the patient has developed an enlarged prostate which he then confirms is BPH. The physician prescribed Tamsulosin which will act on which of the following receptors? A. α2 agonist B. β1 antagonist C. D1 agonist D. α1A antagonist E. β2 antagonist

D. α1A antagonis

An 85 year old smoker presents with hypotension and sudden, severe abdominal pain. Physical exam reveals a pulsatile, non-tender mass below the umbilicus. What is the likely diagnosis? A - Ruptured Abdominal Aortic Aneurysm B - Marfan's syndrome C - Raynaud's Phenomenon D - Pompe Disease E - Hereditary Spherocytosis

A - Ruptured Abdominal Aortic Aneurysm

A 35-year-old patient is diagnosed with a mutation in the NF1 gene. What clinical features would present in this patient? A) Café-au-lait spots & Lisch nodules B) Myopia & arachnodactyly C) Aspiration pneumonia D) Long limbs & narrow face E) Bronchial infection

A) Café-au-lait spots & Lisch nodules

A 45 year old patient presents to the clinic with unusually long limbs, hollow chest, and scoliosis. The doctor diagnosed him with Marfan syndrome. Which of the following mutations is mostly seen in patients with Marfan syndrome? A) Missense mutation B) Frameshift mutation C) Insertion mutation D) Silent mutation E) Deletion mutation

A) Missense mutation

Darla comes into the emergency department yelling and running around. She throws up all over the doctor and suddenly loses consciousness. Quick testing shows that she has an abundant amount of cocaine in her system. A CT scan confirms Darla has an aortic dissection and needs immediate care. The scan shows a complete aortic dissection. What type of dissection does Darla have ? A) Type I B) Type III C) Type A D) Type II E) Type B

A) Type I

A 5-month-old male presents to his pediatrician's office with his mother for fever and vomiting. In addition, the patient has not met his motor developmental milestones. On exam, the patient is found to have an enlarged abdomen and generalized lymphadenopathy. Imaging reveals hepatosplenomegaly. The pediatrician suspects Neimann-Pick disease type A. Which enzyme deficiency is the most likely cause of this patient's presentation? a) Glucocerebrosidase b) Sphingomyelinase c) Lysosomal acid -glucosidase d) Hexosaminidase A e) Phenylalanine hydroxylase

b) Sphingomyelinase

A 44-year-old female patient is suspected to have ischemic heart disease and a stress echocardiogram is ordered by her physician. Prior to the ultrasound, she is given a diagnostic agent to emulate exercise. Which of the following is part of this agent's method of action? a) The (+) isomer acts as an α1-agonist and a weak B1-agonist. b) The (-) isomer acts as an α1-agonist and a weak B1-agonist. c) The (+) isomer acts as an α1-antagonist and a weak B1-antagonist. d) The (-) isomer acts as an α1-antagonist and a weak B1-antagonist. e) The (+) isomer acts as an α1-agonist and a weak B1-antagonist.

b) The (-) isomer acts as an α1-agonist and a weak B1-agonist.

A mother brings her female newborn to the hospital because the baby seems to have dislocated her hip. When asked, the mother states that the baby was in breech position during delivery. Which of the following may be the cause of the newborn's hip dislocation? a) Adhesion between the amnion and limbs during fetal development b) Underdevelopment of the acetabulum and head of the femur c) Disruptions to the apical ectodermal ridge (AER) d) Microdeletions involving PITX1 e) Tears in the amnion that detach and surround the fetus

b) Underdevelopment of the acetabulum and head of the femur

A newborn baby girl was recently born to a new mother and her husband. During physical examination, the newborn was observed to have the third and fourth digits on her right hand fused together. What process must have failed causing this presentation? a) Zeugopod b) Endochondral ossification c) Cell death d) Stylopod e) Arthrogryposis

c) Cell death

Of the following diseases, which demonstrates an inheritance pattern like the one represented by the pedigree shown above? a) Achondroplasia b) G6PD c) Cystic Fibrosis d) Hemophilia B e) MERRF

c) Cystic Fibrosis

A 24-year-old female patients presents to the emergency department after her boyfriend found her unconscious on their living room floor. The boyfriend tells the attending physician that his girl has a past history of drug abuse, and he is afraid she's using drugs again. He states that when he last saw his girlfriend before she went unconscious, her pupils were dilated, her heart was beating rapidly, and she seemed to be in a state of euphoria. The attending physician nods and says this is likely due to a CNS stimulant. What is the most likely mechanism of action of the drug of abuse? a) Acts on CB1 receptors b) Binds to cyclophilin inhibiting calcineurin activity c) Inhibitor of catecholamine reuptake d) Inhibitor of release of acetylcholine at the synaptic cleft e) Targets CD 20 B lymphocytes

c) Inhibitor of catecholamine reuptake

A 64-year-old male is switched off of reserpine to a beta blocker to treat his hypertension due to reserpine's adverse effect of depression. As an avid biochemistry lover and generally inquisitive man, the patient asks how his old medication worked. What is the best description for the patient? a) Reserpine inhibits VMAT, a Na+ -NE co-transporter located on the synaptic cleft b) Reserpine inhibits NET, a Na+ -NE co-transporter located on the synaptic cleft c) Reserpine inhibits dopamine-β-hydroxylase, which converts dopamine to norepinephrine d) Reserpine inhibits NET, a voltage-gated Ca2+ channel located on the synaptic vesicle e) Reserpine inhibits VMAT, a H+ monoamine antiporter located on the synaptic vesicle

e) Reserpine inhibits VMAT, a H+ monoamine antiporter located on the synaptic vesicle

A student is trying to learn the differences between alpha1 and alpha2 adrenoreceptors. Which of the following correctly matches the adrenoreceptor with their respective G protein-coupled receptor? a) Alpha1 uses Gi and alpha2 uses Gs b) Alpha1 uses Gi and alpha2 uses Gq c) Alpha1 uses Gs and alpha2 uses Gi d) Alpha1 uses Gs and alpha2 uses Gq e) Alpha1 uses Gq and alpha2 uses Gi

e) Alpha1 uses Gq and alpha2 uses Gi

Calvin presents to a PCP after switching from a pediatrician. The PCP wants to do an extensive exam because it is his first time seeing Calvin. The PCP notices Calvin has extremely long fingers and some stretch marks on his back. The PCP asks Calvin to place his thumb across his palm and close his fingers overtop of his thumb. What protein is the PCP suspicious of having a mutation? a) LDL receptor b) Hemoglobin c) Factor VIII d) Rb protein e) Fibrillin

e) Fibrillin

A 9 year old patient was taken to her pediatrician for concerns that she was "small for her age." Her doctor is concerned that the ossification centers are not of the proper maturation age. To confirm the suspicions, a bone age study (series of x ray films) was ordered. What extremities would be x-rayed for such an exam? a) Feet and ankles b) Tibia and Fibula c) Femur and Pelvis d) Ribs and Spine e) Hands and wrists

e) Hands and wrists

A 23-year-old female presents to the clinic with chief complaints of skin and joint hypermobility, atrophic scars, and easy bruising. Genetic testing was done and the patient was diagnosed with classic type Ehlers-Danlos syndrome. What is the most likely gene defect of the genetic disorder the patient was diagnosed with? A. COL3A1 B. Procollagen N-peptidase C. COL5A1 D. Lysyl hydroxylase E. COL4A5

C. COL5A1

The 3-year-old child of a young couple has just been diagnosed with cystic fibrosis, an autosomal recessive disorder. Recently it has come to light that the couple shares familial lineage and are technically cousins. What phenomena best explains the increased risk of this autosomal recessive disorder in their child? A. Variable expression B. Allelic heterogeneity C. Consanguinity D. Locus heterogeneity E. Marfan syndrome

C. Consanguinity

A 6-month-old patient is brought to the clinic by his mother because he has been having periods of muscular flaccidity and increased loss of motor control. The doctor finds the patient to have a deficiency in Hexosaminidase A. What category of genetic disorders does this patient's disease belong to? A. Metabolic disease B. Lysosomal storage disease C. Connective tissue disease D. X-linked recessive disease E. Lipid myopathy

B. Lysosomal storage disease

In the embryonic development of limbs, there is a rapidly proliferating population of mesenchyme cells adjacent to the established ridge, which is called the undifferentiated zone. However, the proliferation of this cell population is disrupted. Which of the following disrupted genes are responsible for this loss of maintenance of the undifferentiated zone? A. FGF10 B. RADICAL FRINGE C. FGF4 and FGF8 D. ENGRAILED-1 E. TBX4

C. FGF4 and FGF8

Which is the main gene that is directly responsible for regulation of the shapes and bones of the limbs? A. SHH gene B. LMX1 gene C. HOX gene D. WNT7a gene E. MEIS1 gene

C. HOX gene

A newborn female is born with mirror image duplication of both hands. What during development occurred to cause this abnormality? A. Misexpression of SHH B. Misexpression of HOX C. Misexpression of WNT7a D. Misexpression of EN1 E. Misexpression of LMX1

A. Misexpression of SHH

Which is the main gene that is responsible for the craniocaudal positioning of limbs in the embryo? A. SER2 B. HOX genes C. Radical Fringe D. FGF10 E. SHH gene

B. HOX genes

Specification of the forelimb and the hind limb are regulated by which transcription factors, respectively? A. SOX8, SOX9 B. TBX5, TBX4 C. PAX4, PAX6 D. LHX3, LHX4 E. TBX4, TBX5

B. TBX5, TBX4

A 27 year old Asian female presents to the clinic with coronary ischemia and congestive heart failure. Physical findings include bruits over the aorta with diminished brachial pulses. What is the most appropriate first-line treatment step? A) Folate B) Gentamicin C) Corticosteroids D) Zanamivir E) Amlodipine

C) Corticosteroids

A newborn at birth is noted to have complete unilateral absence of a digit. This abnormality is known as: A. Syndactyly B. Brachydactyly C. Meromelia D. Ectrodactyly E. Micromelia

D. Ectrodactyly

A 60 year old male presents to the office with complaints of severe calf pain while completing his daily walk for the past 3 weeks. He states that the calf pain is alleviated when he returns home and rests. He also feels as though he is losing hair on his legs and toes despite no change in diet or toiletries. Upon physical exam, it is noted that the skin to his lower extremities are shiny and have a cyanotic tint. The most likely diagnosis is: 1) Peripheral Artery Disease (PAD) 2) Aortic Aneurysm 3) Aortic Dissection 4) Giant-cell Arteritis 5) Takayasu's Arteritis

1) Peripheral Artery Disease (PAD)

A 40 year old female presents to her PCP complaining of recurrent episodes of pallor followed by cyanosis and then erythema of her fingers and toes. She states that she experiences these symptoms particularly in colder temperatures. The physician prescribes a calcium channel blocker to reduce the frequency and severity of her symptoms. What is the most likely diagnosis for this patient? 1) Buerger's disease 2) Raynaud's phenomenon 3) Giant cell arteritis 4) Takayasu's arteritis 5) Arteriovenous fistula

2) Raynaud's phenomenon

A 36-year-old male presents to the Emergency Department complaining of hypertension and hematuria. Upon examination, it is noted that he has a family history of a genetic disorder that directly affects the urinary system. Genetic testing is done to confirm his diagnosis of a disease that is caused by a mutation in the PKD1 gene. What form of inheritance most likely led to the patient developing the disease? A. Autosomal Dominant B. Autosomal Recessive C. X-linked Recessive D. X-linked Dominant E. Incomplete penetrance and variable expressivity

A. Autosomal Dominant

A 45-year-old patient visits his PCP with his wife. She explains that her husband hasn't been acting like himself lately. She's worried about his frequent aggressive mood swings and memory lapses and claims that he seems to be having difficulty moving around and swallowing food. Family history is not available, so the PCP recommends genetic testing. Results indicate a gene mutation that is correlated with toxic protein buildup in neuronal nuclei. Which of the following is the most likely mutation? A. CAG expanded repeat on exon 1 B. F508del on CFTR C. RB1 nonsense mutation D. NF1 mutation E. TGFBR2 mutation

A. CAG expanded repeat on exon 1

A 42-year-old man returns to his primary care physician (PCP) for a follow-up appointment regarding his familial hypercholesterolemia (FH). The physician previously prescribed the patient statins to suppress his intracellular cholesterol synthesis, but the patient claims the treatment is ineffective in reducing his xanthomas. The physician attributes this to a low-density lipoprotein (LDL) receptor mutation. Which of the following classes of LDL receptor mutations lead to a complete failure of synthesis of the LDL receptor protein? A. Class I mutations B. Class II mutations C. Class III mutations D. Class IV mutations E. Class V mutations

A. Class I mutations

An 8 month old female is brought to the clinic by her parents due to difficulty crawling, turning over and sitting up, as well as progressive mental deterioration. Upon physical examination, the physician notes cherry red spots in the macula of the infant's eyes. On histological examination, the above image is seen. What is the most likely cause of this disease? A. Deficiency in Hexosaminidase A resulting in the accumulation of GM2 ganglioside B. Inherited defect of fibrillin-1 C. Deficiency in Glucocerebrosidase resulting in the accumulation of glucocerebroside D. Loss of function mutation of LDL receptors E. Deficiency in Glucose-6-phosphatase resulting the accumulation of glycogen in hepatic cells

A. Deficiency in Hexosaminidase A resulting in the accumulation of GM2 ganglioside

A 25 year old male presents to the ED complaining of chest pain for about a week. Patient appears tall, thin and the chest exam reveals a slight protrusion. He mentions that he was diagnosed with an autosomal dominant condition years ago when he fell unconscious while running with his dog. When asked about his medication history, the patient reports he takes a "heart medication" to lower his blood pressure. What gene is most likely defected and what group of medication is he referring to? A. FBN1/Beta-adrenergic blockers B. RB1/selective beta-adrenergic agonists C. NF1/beta-adrenergic blockers D. FBN1/beta-adrenergic agonists E. CAG/beta-adrenergic agonists

A. FBN1/Beta-adrenergic blockers

Which limb defect is due to disruption of AER or its signaling? A. Transverse limb deficiencies B. Clubfoot C. Amniotic bands D. Syndactyly E. Holt-Oram Syndrome

A. Transverse limb deficiencies

A 45-year-old father was brought to the clinic by his daughter, she explained that he had been experiencing uncontrollable movements of his arms and seems to be getting more forgetful. Some testing was done, and he was diagnosed with Huntington's. The presentation of Huntington disease during late adulthood is best described by which of the following factors? A. Variable expression B. Germline Mosaicism C. Age-dependent Penetrance D. Locus heterogeneity E. Reduced penetrance

C. Age-dependent Penetrance

A 72 year old male presents to the ED with chest pain. Attached are the findings on the CT angiogram of his descending aorta. It shows a large penetrating aortic ulcer above the diaphragm. Which of the following is a major complication of both penetrating ulcers and intramural hematomas? A - Arteriovenous fistula B - Aortic rupture C - Pulmonary hypertension D - Venous thromboembolic disease E - Deep vein thrombosis

B - Aortic rupture

A mother comes into the OB/GYN for a routine anatomy ultrasound on an 14 week fetus. Upon further investigation, the physician notices that the hands are webbed. The physician is worried there may be a developmental abnormality. Which of the following processes did not occur that allow the fingers to separate from the apical ectodermal ridge? A) WNT14 signaling B) Cell death C) Interzone retraction D) Epiphyseal plate closure E) Hox signaling

B) Cell death

A 60-year-old male patient complains of shoulder pain, visual disturbances and a headache. Physical and Laboratory tests reveal low grade fever, scalp-tenderness and significantly elevated C-reactive protein. Diagnosis is confirmed via histologic examination of arterial tissue, showing infiltration of "giant cells" in the vascular wall. Which of the following is the best course of treatment for the patient? A) Calcium channel blockers B) High dose corticosteroids C) Transcatheter embolization D) Corticosteroids and surgical revascularization E) Tobacco abstinence F) Low dose corticosteroids then increase dose over time

B) High dose corticosteroids

A 40-year-old male presents to an autopsy lab after a sudden, unexplained death. Major findings include long extremities, dilation of ascending aorta, mitral valve prolapse, prominent supraorbital ridges, and scoliosis. Which of the following best describes the pathogenesis of the disease the patient was suffering from? A) Autosomal dominant mutations suppressing TGF- β activity B) Mutation in FBN-1gene resulting in fibrillin loss C) ApoB gene mutation resulting in increased serum cholesterol levels D) Mutations that increase the expression of PCSK9 E) Autosomal recessive illness that increases fibrillin content in the intimal layer

B) Mutation in FBN-1gene resulting in fibrillin loss

A man who is heterozygous for Huntington's disease marries a phenotypically normal woman. They have already had 2 phenotypically normal children and are pregnant again. What is the probability that the next child will have the disease? A- 1/3 B- 1/2 C- 1/4 D- 1/6 E- 0

B- 1/2

A married couple decides that they want to start to try and have children; before beginning to try they decide to conduct a genetic screening as the man has concerns as his family has a history of Tay-Sachs. The counselor confirms to the man that he and, in fact, his wife are both carriers for Tay-Sachs. The couple is now considered for the risk of having a child dominant for Tay-Sachs, what is the recurrence risk of Tay-Sachs disease in this situation? A. 50% B. 25% C. 33% D. 100% E. 0%

B. 25%

A baby is born one week premature before the mother's appointed date of expected labor. During a physical examination accessing the condition of the baby, the physician notices the baby has shortened digits of the fingers. What did the physician diagnose the baby with? A. Syndactyly B. Brachydactyly C. Polydactyly D. Ectrodactyly E. Monodactyly

B. Brachydactyly

A 6-year-old patient is diagnosed with a mutation in the CFTR gene. As the disease progresses what phenotype would not present in the patient? A. Fibrotic lesions in the pancreas B. Cystic medial necrosis C. Inability to reabsorb chloride from the lumen of sweat glands D. Pulmonary fibrosis E. Chronic malabsorption of nutrients

B. Cystic medial necrosis

A patient presents with severe hemolytic anemia after being given primaquine to prepare for a trip to a place with a high rate of malaria. Before being given the drug, the patient presented normally. What enzyme deficiency would you expect to be causing the anemia? A. Phenylalanine hydroxylase B. G6PD C. FBN1 D. Adenosine deaminase E. Lysyl hydroxylase

B. G6PD

An infant presents to the pediatric office with delayed mental and motor abilities. Although he appeared fine at birth, the infant has yet to reach certain milestones expected at 6 months. Nothing was noteworthy about his abdomen, but the pediatrician noted a red spot on the infant's retina. What has accumulated in the infant's tissues led to this presentation of signs and symptoms? A. Sphingomyelin B. GM2 ganglioside C. Cholesterol D. Mucopolysaccharides E. Glucocerebroside F. Glycogen

B. GM2 ganglioside

A 65-year-old male presents to a new primary care physician following a recent move with complaints of feeling low and being unable to enjoy everyday activities. After further consideration, the physician believes he is suffering from depression caused by the hypertension medication prescribed to him 10 years ago. Which of the following is the mechanism of action of the drug described? A. Displacement of endogenous catecholamines from storage vesicles B. Irreversible inhibition of VMAT C. Weak MAO-A inhibition D. Competitive inhibition of catecholamine reuptake E. Agonist at the trace amine-associated receptor 1 (TAAR1)

B. Irreversible inhibition of VMAT

Marfan syndrome, as well as Osteogenesis imperfecta, is often caused by a mutation at multiple different loci but are able to cause the same phenotype. This is known as: A. Allelic heterogeneity B. Locus Heterogeneity C. Pleiotropic effect D. Variable Expression E. Germline Mosaicism

B. Locus Heterogeneity

Chet recently passed his CDL certification and was hired as a long-haul truck driver. Although he is a 21-year-old male, he is instructed to visit with his PCP for a Department of Transportation physical before he can begin work. Everything at his exam appeared normal, however, he is called and informed he has elevated levels of LDL in his lab findings. Upon further testing, Chet is diagnosed with Familial Hypercholesterolemia (FH) which can be attributed to a mutation in genes coding one of three proteins. Which is the correct list of the three possible gene mutations? A. Mutations in LDLR gene, IDL gene, and PCKS9 gene B. Mutations in LDLR gene, ApoB gene, and PCSK9 gene C. Mutations in HEXA gene, HEXB gene, and GM2A gene D. Mutations in COL3A1 gene, ApoB gene, and GM2A gene E. Mutations in LDLR gene, Class V mutations, and HEXA Gene F. Mutations in RB gene, HFE gene, and Statin Gene

B. Mutations in LDLR gene, ApoB gene, and PCSK9 gene

An avid biochemist had recently suffered a myocardial infarction. This patient previously ignored warnings from physicians regarding his condition, Familial Hypercholesterolemia. The patient, now curious, is inquiring about the mechanism that inhibits the recycling of LDL receptors. Which answer choice correctly matches this mechanism? A. ApoB B. PCSK9 C. LDLR gene mutation D. HMG-CoA reductase E. Acute onset myocardial ischemia

B. PCSK9

Select the answer choice that shows the correct order of steps for the negative feedback mechanism employed by adrenergic GPCRs. A. ß-arrestin → Receptor phosphorylated → Clathrin/clathrin adaptor protein AP2 → Clathrin coated pits -→ dynamin → recycled/endosome/lysosome B. Receptor phosphorylated → ß-arrestin → Clathrin/clathrin adaptor protein AP2 → Clathrin coated pits → dynamin → recycled/endosome/lysosome C. Receptor phosphorylated → ß-arrestin → Clathrin coated pits → Clathrin/clathrin adaptor protein AP2 → dynamin → recycled/endosome/lysosome D. Receptor phosphorylated → dynamin → Clathrin coated pits → Clathrin/clathrin adaptor protein AP2 → ß-arrestin → recycled/endosome/lysosome E. Receptor phosphorylated → ß-arrestin → Clathrin/clathrin adaptor protein AP2 → dynamin → Clathrin coated pits → recycled/endosome/lysosome

B. Receptor phosphorylated → ß-arrestin → Clathrin/clathrin adaptor protein AP2 → Clathrin coated pits → dynamin → recycled/endosome/lysosome

A 50 year old male presents to the emergency department complaining of tachycardia, tremors, restlessness, and agitation. He has a history of depression, for which he was previously prescribed Fluoxetine (SSRI) before being started on Selegiline (MAOi) 3 days ago. The patient admits that while he has been using Selegiline he has still been taking leftover Fluoxetine. Based on the patient's presentation and history, what is the patient currently most likely experiencing? A. Tyramine toxicity B. Serotonin syndrome C. Orthostatic hypotension D. Platelet dysfunction E. Dissociation

B. Serotonin syndrome

A 65 year old male is diagnosed with benign prostatic hyperplasia (BPH) by his PCP. He is prescribed an alpha adrenergic antagonist to treat his condition. This specific medication is not associated with orthostatic hypotension as a side effect. What is the medication he was prescribed? A. Terazosin B. Tamsulosin C. Pindolol D. Phentolamine E. Salmeterol

B. Tamsulosin

A 30 y/o male presents to the emergency department with symptoms of chills, fever, and sweating. His history is significant for having been on an Amazon Jungle expedition 3 weeks prior. He is diagnosed with a Plasmodium Falciparum (Malaria) infection and treated with primaquine. Before administering the drug, his physician remembers to test for glucose-6-phosphate-dehydrogenase (G6PD) deficiency considering hemolytic anemia can result due to primaquine administration for patients with this genetic defect. What is the mode of inheritance of G6PD deficiency? A. X-Linked Dominant B. X-Linked Recessive C. Autosomal Dominant D. Autosomal Recessive E. Mitochondrial Inheritance

B. X-Linked Recessive

A newborn is brought to the attention of a physician due to showing signs of a disorder associated with the dominant mutation of the COL1A1 gene. What are the most significant signs that led the physician to make the diagnosis of this type 1 collagen production-associated abnormality? A. Joint hyperflexibility, dilatation and/or dissection of the ascending aorta, and dislocation of the lens of the eye. B. shortening, bowing, and hypomineralization of the long bones of the limbs that can result in fractures and blue sclera C. absent digits, poly-dactyly, syndactyly, absent radius, and hypoplasia of any of the limb bones D. fusion of the carpal bones and small short digits. E. Excessive bone formation, delayed tooth eruption, pancytopenia, blindness, deafness and facial nerve palsies

B. shortening, bowing, and hypomineralization of the long bones of the limbs that can result in fractures and blue sclera

A 2-year-old female is brought in by her parents with chief complain of persistent hand pain after falling while trying to walk. On examination, it is noted that she has shorter digits on her hands and feet. An x-ray reveals fusion of her carpal bones bilaterally. Asked for additional history, the parents report she continues to have urinary incontinence as well. The physician suspects the patient may have a mutation in the HOXA13 gene. What other exam finding would support his suspicion? A. Presence of an extra finger B. Laxity of the hip joint capsule C. Bicornuate or a didelphic divided uterus D. Cardiac Anomalies E. Hyperflexibility of the joints

C. Bicornuate or a didelphic divided uterus

A 59-year-old male presents to his PCP complaining of hand tremors, facial chorea, and progressively worsening balance issues. He also states that he's getting very frustrated with himself and as a result, a little bit depressed too. Through further genetic testing, it is determined the patient has Huntington's Disease, a gain-of-function mutation that manifests from a trinucleotide repeat mutation affecting the nervous system. The patient wants to know if this will affect his kids and grandkids, what is the inheritance pattern of this neurodegenerative disorder? A) Autosomal Recessive B) X-Linked Recessive C) Autosomal Dominant D) X-Linked Dominant E) Multi-factorial

C) Autosomal Dominant

A 34 year old man visits his PCP with complaints of frequent cramping of his legs and hands at his job in construction. He has smoked a pack of cigarettes every day for the past 10 years. The physician notices swelling around a vein in his leg and decides to take a biopsy of it, showing a thrombus without involvement of structures of the vessel wall. What is the most likely diagnosis? A) Raynaud's phenomenon B) Takayasu's arteritis C) Buerger's disease D) AV fistula E) Giant cell arteritis

C) Buerger's disease

A newborn baby is found to have postaxial polydactyly, the presence of an extra digit near their fifth digit. The doctor tells the parents that this is an autosomal dominant trait. Which of the following cannot be true? A. The child's parents are both affected B. Neither of the affected child's grandmothers are affected C. Having one affected child increases the likelihood that the next will be as well D. The affected child has 7 aunts and uncles, none of whom are affected E. The affected child grows up and has 5 unaffected children

C. Having one affected child increases the likelihood that the next will be as well

A 58 year old woman is visiting her primary care physician. The patient presents with xanthomas and has been diagnosed with familial hypercholesterolemia. The patient asks the physician why she has these "weird yellow spots" on her eyelid (shown above). The physician tells her they are due to: A. Decreased presence of LDL in her serum B. Decreased functioning of PCSK9 enzyme C. Increased LDL phagocytosis by macrophages D. Increased expression of ApoB on LDL particles E. Increased expression of LDLR gene on the surface of hepatocytes

C. Increased LDL phagocytosis by macrophages

A 17-year old boy presents to the clinic in physical pain and appears to be unable to walk properly. When asked to describe his pain, he states that his muscles are cramped and this occurred after his half marathon run that morning. The physician orders a series of blood tests that show low lactate levels and high creatine kinase levels. What enzyme is deficient in this individual? A. Glucocerebrosidase B. alpha-glucosidase C. Muscle phosphorylase D. Glucose-6-phosphatase E. lysosomal hexosaminidase

C. Muscle phosphorylase

A young couple brings their 9 month old infant into the ER for protuberance in the child's abdomen, fever, vomiting, and failure to thrive. History reveals the family is Ashkenazi Jewish and aware of increased likelihood for genetic disorders. However, previous genetic testing has ruled out the possibility of Tay-Sachs. The causative disease narrowed down to an autosomal recessive disease, characterized by lysosomal accumulation of sphingomyelin. What is the causative disease? A. Gaucher's Disease B. Tay-Sachs Disease C. Niemann-Pick Disease D. Von Gierke Disease E. Pompe Disease

C. Niemann-Pick Disease

Which of the following describes characteristics of an autosomal recessive disorder mode of inheritance, such as in Cystic Fibrosis? A. The trait is seen in every generation (no skipping generations) B. The recurrence risk increases with each offspring C. There is a stronger likelihood the affected individual is the product of a consanguineous marriage D. Heterozygotes show more severe symptoms E. There is no father-son transmission

C. There is a stronger likelihood the affected individual is the product of a consanguineous marriage

Sylvester Martian, a 56-year-old male, was admitted to the hospital for chest pain with physical exertion and having difficulties breathing. On admission the nurses took blood from Mr. Martian as standard for many patients in order to see if there was anything concerning. Four hours later the attending received the laboratory values and discovered that there were elevations in the patient's cholesterol. After a coronary angiogram, it was discovered that there was plaque buildup in the patients left anterior descending artery (LAD). After the diagnosis has been made, the patients underwent coronary stenting, in which the stent was placed in the LAD. Mr. Martian was then given medications and referred to meet with a nutritionist for care management of his symptoms. What is the pathology behind why there was plaque formation in Mr. Martian's LAD? A. There was a mutation to the HDL receptors that led to plaque buildup in the LAD. B. A mutation in his fibroblasts that led to collagen formation in the LAD. C. There was a mutation to the LDL receptors that led to the plaque buildup in the LAD. D. There was granulation tissue formation that led to ischemic necrosis of the LAD. E. A mutation in type 4 collagen led to spasming of the LAD leading to his infarction.

C. There was a mutation to the LDL receptors that led to the plaque buildup in the LAD.

What is the major rate limiting enzyme of catecholamine synthesis in the presynaptic neuron? A. Aromatic L-amino acid decarboxylase B. Dopamine-B-hydroxylase C. Tyrosine hydroxylase D. Phenylethanolamine N-methyltransferase E. Norepinephrine

C. Tyrosine hydroxylase

During a routine checkup, a pediatrician notes leukocoria in one eye of a 2-year-old boy. The pediatrician refers the patient to an Ophthalmologist. After examining the eye with an ophthalmoscope, it was determined that the child has retinoblastoma. Further genetic testing confirms the diagnosis and genetic testing revealed a mutation in the Rb gene. How does mutation in the Rb gene lead to the formation of tumors? A) Mutation in Rb gene enhances pRb from binding to E2F resulting in uncontrolled cell mitosis B) Rb mutation is a gain of function and prevents pRb from binding to E2F resulting in uncontrolled cell mitosis C) Mutation in Rb produce defective pRb which inactivates E2F and cause uncontrolled cell mitosis D) Mutation in Rb gene hinders pRb from binding to E2F resulting in uncontrolled cell mitosis E) Mutation in Rb gene hinders pRb from binding to E1F resulting in uncontrolled cell mitosis

D) Mutation in Rb gene hinders pRb from binding to E2F resulting in uncontrolled cell mitosis

A child presents to the ED with a possible leg fracture. On physical exam, shortening and bowing of the legs is noted as well as blue sclera. Which pairing of disorder and mutation in this child is most likely? A) Transverse limb deficiency; FBN1 B) Congenital Hip Dislocation; COLIA1 C) Marfan Syndrome; FBN1 D) Osteogenesis Imperfecta; COLIA2 E) Transverse limb deficiency; COLIA1

D) Osteogenesis Imperfecta; COLIA2

A 20-year-old girl presents to the clinic with hypertension, tachyarrhythmias, insomnia, anxiety, and restlessness. The patients explained that she has a cold and was taking some cold remedies that she got at Walmart to suppress her nasal congestion and accidently took an extra dose which caused her above symptoms. What is the mechanism of action of the drug she is taking? A. Inhibitor of catecholamine reuptake B. Inhibitor of catecholamine synthesis C. Monoamine oxidase inhibitor D. Inhibitor of catecholamine storage E. Agonist of α2-adrenergic receptors

D. Inhibitor of catecholamine storage

A 2-year-old male patient is brought into the clinic by his parents. They have concerns regarding their son's intellectual ability, stating that he has not shown the same development as his siblings did at this age. On physical exam, the physician notes coarse facial features and cloudy eyes. What is the most likely underlying cause of this disease? A. Defect in LDL receptor recycling B. Defect in production of type I and III collagen C. Glycogen storage due to lack of glucose-6-phosphatase D. Accumulation of mucopolysaccharides due to enzyme deficiency E. Increased hexosaminidase A enzymatic activity

D. Accumulation of mucopolysaccharides due to enzyme deficiency

A young couple presents to the ER with their 8 month-old daughter. The mother reports pallor and difficulty feeding, which started about 2 weeks ago. In addition to the patient's pale complexion, the physician also notes hepatosplenomegaly during the physical exam. Labs show the patient to be severely anemic and she is subsequently admitted to the hospital. After further testing, the patient is diagnosed with Thalassemia Major. This is a genetic disorder that corresponds to which of the following molecular defects? A. Defective membrane receptor B. Defective enzymatic protein C. Mutation resulting in an adverse reaction to a drug D. Alteration in the quantity or structure of a non-enzymatic protein E. Mutation resulting in unregulated cell growth

D. Alteration in the quantity or structure of a non-enzymatic protein

A 46-year-old man presents to his primary care office with complaints of wheezing, exercise intolerance, and recurrent sinusitis. He expresses that he's had these symptoms for a long time but lately they're getting worse. The physician decides to request genetic testing to confirm her diagnosis and it reveals a three-base deletion that results in the synthesis of a protein that lacks amino acid 508 (phenylalanine), a mutation in an ion channel, and follows an autosomal recessive inheritance pattern. What disease is likely causing this patient's symptoms? A. Pompe Disease B. Huntington Disease C. Polycystic Kidney Disease D. Cystic Fibrosis E. Wilson Disease

D. Cystic Fibrosis

At the inter-zone, the condensed mesenchymal cells differentiate into dense fibrous tissue which forms all the following EXCEPT? A. Articular cartilage B. Synovial membrane C. Menisci within joint capsule D. Epiphyseal plate E. Ligament within joint capsule F. All the above are formed at interzone

D. Epiphyseal plate

An 11-year-old male presents to his pediatrician for a well-child examination. During the visit, the child expresses interest in getting a sports physical—his middle school gym teacher has been encouraging him to try out for the basketball team because of his flexibility, tall height, long arms, and lengthy fingers. Concerned the patient may have an autosomal dominant condition, the pediatrician conducts some tests. The Walker Murdoch wrist sign and Steinberg thumb sign are both positive, the patient's arm span is about 3 inches greater than his height, and ocular examinations reveal no myopia or displaced lens. The patient has no history of chest pain, shortness of breath, or heart palpitations with exercise and his aortic root diameter falls within the normal range. Genetic testing reveals the pediatrician's initial suspicion for a diagnosis is wrong—the patient has a disorder caused by a mutation in a homologous gene. What is the mutation causing such physical features sans cardiac and ocular defects? A. FBN1 B. TGFBR2 C. FGR3 D. FBN2 E. FGR2

D. FBN2

A newborn boy is brought in by his parents due to abnormal urination. After screening it seems that the newborn boy has hypospadias. The screening also revealed that the newborn boy has fusion of the carpal bones and digits. What gene is mutated to cause these defects and what is the name of the syndrome? A. HOXA13 & Holt-Oram syndrome B. COL1A1 & Osteogenesis imperfecta C. FBN1 & Marfan syndrome D. HOXA13 & Hand-foot-genital syndrome E. TBX5 & Holt-Oram syndrome

D. HOXA13 & Hand-foot-genital syndrome

A 24-year-old woman presents to her PCP with a disorder affecting her nervous system. Her family history shows an autosomal dominant disorder. Upon further testing it is found that she has a gain of function mutation caused by a trinucleotide-repeat. Which of the following is the disorder the patient is most likely suffering from? A. Hemophilia B. Cystic fibrosis C. Marfan syndrome D. Huntington disease E. Duchenne muscular dystrophy

D. Huntington disease

A 5-year-old female presents with retinoblastoma and is confirmed to have inherited a mutant Rb1 allele. Although her father wasn't affected, his own mother was. Family history is insignificant on her mother's side. What is the most likely reason her father never exhibited a disease phenotype? A. The father did not possess a disease-causing genotype B. Variable expression C. Germline mosaicism D. Incomplete penetrance E. Locus heterogeneity

D. Incomplete penetrance

While explaining the basis of a transverse limb deficiency (a limb defect in which proximal structures are intact, but structures distal to a transverse plane are partially or completely absent) seen in a patient, a physician explains that the underlying cause was most likely due to a disruption in a certain area of the developing limb bud that is responsible for exerting an inductive influence on adjacent mesenchyme, causing it to remain as a population of undifferentiated, rapidly growing cells. The area where the disruption took place according to the physician is known as what? A. Primary ossification center B. Basal Ectodermal Ridge C. Secondary ossification center D. Epiphyseal plate E. Apical Ectodermal Ridge

E. Apical Ectodermal Ridge

Mr. and Mrs. Smith took their 2-year-old son, Jordan, to the local ED because he had been coughing frequently since last week. Upon arriving at the ED, the attending physician auscultated the chest and noticed a high-pitched whistling sound. According to Mr. and Mrs. Smith, Jordan had sinus infections a couple of weeks ago. Nowadays, Jordan's stool appears greasy and abnormally foul smelling. The attending physician decides to do a sweat test to confirm his suspicions. The sweat test indicates higher than normal levels of chloride. The doctor explains to Jordan's parents that his respiratory and digestive symptoms are due to Cystic Fibrosis (CF). Which of the following statements is true regarding Cystic Fibrosis? A. Cystic Fibrosis is an autosomal dominant condition in which only the dominant homozygote is affected. B. Cystic Fibrosis is caused by three-base deletion that results in the loss of a Tyrosine residue (Y) at position 506 of the CFTR protein. C. Cystic Fibrosis patient sweat is hypotonic & in general exocrine secretions are viscous D. In the airway, Cystic Fibrosis patients have increased chloride secretion & decreased sodium & water reabsorption E. In most cases, Cystic Fibrosis is caused by CFTR genetic mutation, which involves deletion of the three base pairs that code for phenylalanine.

E. In most cases, Cystic Fibrosis is caused by CFTR genetic mutation, which involves deletion of the three base pairs that code for phenylalanine.

Shia LaBeouf's fourth cousin presents to her PCP after obtaining genetics testing and realizing she has a mutation in a gene located on chromosome 15q21.1. Which one of the following symptoms should her PCP be concerned about? A. Motor horn cell deficiency B. Blue Sclera C. Hypospadias D. Syndactyly E. Lens dislocation

E. Lens dislocation

A new mother is in distress after her physician informed her that her 18 month old daughter has a tumor. When her husband inquires about the tumor, she can only recall the physician telling her that it was due to an autosomal dominant genetic mutation that observed reduced penetrance. This concept is why neither of the parents showed any symptoms of the mutation, the most common of which is unregulated cell growth in the eye. Which genetic mutation was the mother most likely referring to? A. FGFR3 B. Fibrillin (FBN-1) C. N-MYC D. COL4A1 E. RB1

E. RB1

A couple visits a genetic counselor to learn about the likelihood of their future child to have Tay Sachs. Upon review of the mother's pedigree, the counselor deduces that the mother is a carrier for the disease. If the father is homozygous recessive for the disease, which of the following would be true? A. Their offspring will have 75% chance of having Hemophilia B B. The mother is homozygous dominant for the disease C. The child will have a true dominant inheritance pattern for the disease D. Their offspring will have 25% chance of having Hemophilia B E. The child will have a quasi-dominant inheritance pattern for the disease

E. The child will have a quasi-dominant inheritance pattern for the disease

A 47-year-old male presents to the emergency department complaining that his heart is beating very fast. An EKG was ordered and showed a significantly elevated heart rate. The attending physician administers a beta-blocker in an attempt to control the patient's heart rate. In regards to β-Adrenoceptors, what is the most likely pharmacologic explanation of the patient's elevated heart rate. a) Inappropriate activation of Gs coupled receptors b) Inappropriate inhibition of Gs coupled receptors c) Inappropriate activation of Gi coupled receptors d) Inappropriate inhibition of Gi coupled receptors e) A decrease in the conduction velocity in the AV node

a) Inappropriate activation of Gs coupled receptors

Spongebob Squarepants is an 8 yo boy who presents to the clinic with his mother for a wellness check. She explains to Dr. Patrick Star that her son has an intellectual disability that was diagnosed at an early age. Physical examination shows a long face with a large jaw, large everted ears. Macroorchidism is present. Dr. Star determines that he has Fragile X syndrome. What is the etiology of Spongebob's condition? a) Trinucleotide repeats disorder of CGG on FMR1 gene b) Missense mutation on Beta globin chain of hemoglobin c) Deletion in Dystrophin gene d) Trinucleotide repeats of GAA gene e) Frameshift mutation on hexosaminidase A gene

a) Trinucleotide repeats disorder of CGG on FMR1 gene

Postaxial polydactyly, the presence of an extra digit next to the fifth digit, is inherited as an autosomal dominant trait. A newborn male is found to have six digits on his hands. The father is a homozygous, unaffected parent. Which of the following cases is a possible explanation as to why the newborn has postaxial polydactyly? a. The mother of the child is heterozygous and affected for postaxial polydactyly b. The mother of the child is heterozygous and unaffected for postaxial polydactyly c. The mother of the child is homozygous and unaffected for postaxial polydactyly d. Postaxial polydactyly is also X-linked, so the mother must either be homozygous or heterozygous for postaxial polydactyly. e. The newborn's phenotype is an example of incomplete penetrance

a. The mother of the child is heterozygous and affected for postaxial polydactyly

A 35-year-old female physician was leaving the hospital she practices at when she slipped on ice. The physician went to get an X-ray and was informed that she had broken her wrist. Whilst waiting to get the X-ray done, the female began to ponder about her time at LECOM where she learned all the steps of endochondral ossification. Assuming the physician remembers correctly, what listed step of endochondral ossification comes first? a) Osteoblasts bind to the mineralized matrix and deposit bone matrices b) A secondary ossification is formed c) Mesenchymal cells condense and differentiate into chondrocytes d) Chondrocytes form a cartilaginous model for prospective bone e) Chondrocytes undergo apoptosis and hypertrophy

c) Mesenchymal cells condense and differentiate into chondrocytes

A 32-year-old male comes to the ER experiencing lightheadedness, blurry vision, syncope. History shows that this patient has been under chronic MAOI treatment. Before coming to the ER, even after warnings from his doctors consumed some wine and cheese before lying in bed. When he went for his morning jog, he experienced the above symptoms. Why would a patient be experiencing postural hypotension (symptomatic hypotension following exercise or standing up)? a) Reserpine was taken with the MAO inhibitor. b) Venlafaxine was taken accidently with the MAO inhibitor. c) Octopamine displaced the norepinephrine from the vesicles. d) The patient had taken Afrin the day before. e) He may have taken alpha- Methyltyrosine which meant for his roommate (used in hypertension associated with pheochromocytoma)

c) Octopamine displaced the norepinephrine from the vesicles.

In adrenal medullary cells, norepinephrine is converted to epinephrine by: a) VMAT b) Tyrosine hydroxylase c) PMNT d) Amino acid decarboxylase e) Dopamine-Beta-hydroxylase

c) PMNT

A 54-year-old man presents to the clinic with hypertension. Medication history reveals he is on albuterol for the treatment of asthma. Which B-adrenergic blocker is contraindicated in this patient? a) Esmolol b) Acebutolol c) Propranolol d) Metoprolol e) Atenolol

c) Propranolol

A 24-year-old female presents with difficulty of breathing. Worrying that the medication might react with receptors of different systems careful measures were taken and a B2 specific receptor agonist medication was prescribed. Which of the following was most likely prescribed to the patient? a) Isoproternol b) Dobutamine c) Salmeterol d) Prazosin e) Dexmedotomidine

c) Salmeterol

A 25 year old man presents to the ED with thin skin, arterial rupture, bruising, and small joint hyperextensibility. It is later determined that he suffers from Ehlers-Danlos Syndrome. Which type of EDS is he most likely suffering from and what is the collagen type affected? a. EDS Type I/II, Collagen Type V b. EDS Type III, Collagen Type III c. EDS Type IV, Collagen Type III d. EDS Type VI, Collagen Type III e. EDS Type IV, Collagen Type I

c. EDS Type IV, Collagen Type III

An MMS graduate makes it to medical school. During his OB-GYN rotation, a 23-year-old female presents G1P0 for regular checkup approximately 2 months prior to her due date. The residents were on call last night, so the MMSer is required to only call them once he has a full presentation to make on each patient. The student palpates the mother's abdomen and identifies a sign that leads him to order an ultrasound, which confirms that the fetus is in breech position at this time. After the student explains the test results including the fact that most breech fetuses will change to cephalic position prior to delivery, the patient would like to know what risks her baby will face if born breech. Which of the following is a possible risk the medical student is sure to mention? a) A characteristic syndrome including intestinal atresia b) Syndactyly and polydactyly c) Fusion of the carpals, bicornuate uterus, and small short digits d) Dislocation of the femoral head from the acetabulum shortly after birth e) Transverse limb deficiency Clubfoot

d) Dislocation of the femoral head from the acetabulum shortly after birth

A 25-year-old female of Eastern European Jewish ancestry has recently given birth, however, after six months has noticed that her child has displayed worsening neurological impairments such as intellectual disabilities and motor incoordination. The mother is especially concerned regarding the cherry red spot present in the macula of the child's eye. Assay of culture leukocytes will most likely reveal marked deficiency in which of the following enzymes? a) Alpha, 1,4-Glucosidase b) Iduronate 2-sulfatase c) Alpha, L-Iduronidase d) Hexosaminidase A e) Glucocerebrosidase

d) Hexosaminidase A

A young mother brings her 2 year old son into the doctor's office and complains that her son seems to be very limp and unable to sit up. After the doctor conducts some laboratory tests and reports that the patient possibly has Tay-Sachs. What enzyme is the patient missing? a) Hexosaminidase A and B b) α-Galactosidase A c) Glucocerebrosidase d) Hexosaminidase A e) Sphingomyelinase

d) Hexosaminidase A

A 12-month-old male is brought for his routine check up by his mother who expresses concern that her son, who had previously been able to sit up on his own, has recently stopped doing so. Upon exam, an enlarged abdomen and rhonchi lung sounds are noted. The provider suspects infantile onset Pompe Disease (Type II Glycogenosis). A deficiency in which of the following enzymes would confirm this suspicion? a) Muscle Phosphorylase b) Muscle Phosphofructokinase c) Glucose-6-Phosphatase d) Lysosomal Acid -glucosidase e) Branching enzyme

d) Lysosomal Acid -glucosidase

A 35 year old woman is pregnant with her third child and is concerned about her next child having a genetic disorder. She explains to the physician that she has already had 2 children with Duchenne Muscular Dystrophy even though genetic testing showed she and her spouse were not carriers for it. There is also no family history of DMD. What is the most possible mechanism for why her children have developed DMD? a) De novo mutations in the cells of the children, leading to the children's diseased phenotype b) De novo mutations in the somatic cells of the mother, leading to the children's diseased phenotype c) It is an X-linked inactivation of diseased somatic cells hiding the mother's diseased phenotype d) The mother is displaying germline mosaicism, leading to the children's diseased phenotype e) The children are displaying germline mosaicism, leading to the children's diseased phenotype

d) The mother is displaying germline mosaicism, leading to the children's diseased phenotype

A 7-year-old male presents to the emergency room with hives and difficulty breathing. His mother states that his symptoms began after he unknowingly ate a handful of chocolate covered peanuts, and that he has a peanut allergy. It is determined that he is experiencing anaphylaxis and is given an injection of epinephrine. Which receptors are the main targets of this medication? a) α1,α2,β1, and β2 receptors b) α1and β1receptors only c) α2and β2receptors only d) α1,β1,and β2 receptors e) α1 and α2 receptors only

d) α1,β1,and β2 receptors