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The affinity of fetal hemoglobin for oxygen
Has not been studied
Is the same as that of adult hemoglobin
Is lower than that of maternal hemoglobin
Is higher than that of maternal hemoglobin
In sickle cell anemia hemoglobin
The four subunits of hemoglobin dissociate from one another
The heme group is lost from all subunits
The iron is in the Fe(III) form rather than the normal Fe(II)
Groups of hemoglobin molecules aggregate with each other
Huntington’s disease and prion disorders have what in common?
Both are genetic diseases which require single amino acid mutations
Both are genetic disease which involve polyglutamine expansions
Both involve infectious proteins which are introduced from from outside environment
Both involve “genetic anticipation” in which each generation manifests the disease during younger age
The toxic agent in both are soluble oligomers
The disulfide bonds in the normally folded human insulin are most important in stabilizing what level of the insulin structure?
Mary Sue is a 55-year old female with sever chronic obstructive pulmonary disease. Reporting to the emergency room due to extreme breathlessness, arterial blood gases are taken and her pCO2 is found to register 55 mm HG (normal range 33-45). Based on these data, which ONE of the following situations might Mary Sue also exhibit?
Her blood pO2 level would be elevated
Her blood pH would be elevated
She would be in a condition of respiratory acidosis
She would be in a condition of aerobic alkalosis
Carbonic anhydrase activity in Mary Sue’s RBCs would be virtually undetectable
Jonathan Hobbs has been rushed to the nearest hospital, having been discovered virtually comatose in his automobile, parked inside a local parking garage. All symptoms lead to the conclusion that Mr. hobbs is experiencing a severe case of CO poisoning. Which ONE of the following biochemical events would NOT be a potential problem for this patient? A) Inhibition of the electron transport chain, yielding decreased ATP synthesis B) Direct damage to skeletal muscle due to the formation of carboxymyoglobin C) Stimulation of the electron transport chain, leading to increased ATP synthesis D) Cerebral vasodilation due to increased cyclic-GMP levels E)Lowered systemic blood pressure caused by increased synthesis of NO (nitric oxide)
Dr. Edward Buxtehude, a 45-year old pediatric surgeon has developed multiple neurological symptoms that lead to a preliminary diagnosis of a prion disease, as opposed to , say, Alzheimer’s disease. Without further data, which ONE of the following prion disease would most likely be suspected to be responsible for Dr. Buxtehude’s condition?
Sporadic Creutzfeldt-Jakob disease (CJD)
Comparing sporadic Creutzfeldt-Jacob Disease (CJD) with familial CJD: A) Familial CJD usually exhibits a later onset B) Familial CJD usually exhibits a shorter course of progression until patient mortality C) Familial CJD usually appears sooner and progresses more slowly than does sporadic CJD D) Familial CJD does not usually result in spongiform alterations of the CNS
Sloe Klotter, the young patient discussed in the case study last week, was found to have hemophilia A. This is the most frequently encountered serious disorder of blood coagulation in humans. About how frequent is this condition? A). About 1 in every 1000 males B).About 1 in every 5000 males C).About 1 in every 10,000 males D).About 1 in every 50,000 males E). About 1 in every 100,000 males
Again referring to our patient, Slow Klotter: As a physician attempting to complete an initial diagnosis for this boy, already suspecting some form of hemophilia, which of the following clinical test would you feel a priori to be potential the LEAST valuable? A). Complete Blood Cell Count (CBC) B).Measurement of Factor VIII C). Coagulation studies D).Hematocrit E). Family History
Comparing Hemophilia B to Hemophilia A, which ONE of the following statement is CORRECT? A). In both disease, blood hemoglobin levels would be severely increased B). In hemophilia A, but NOT hemophilia B – platelet counts would be normal C).In hemophilia B, but NOT hemophilia A – clotting factor IX is deficient D). Both forms of the disease are expressed as X-linked dominant mutations
Patient Anne Nemick, diagnosed with beta-thalassemia minor, has a genetic problem most usually caused by which ONE of the following?
Splicing difficulties resultant from point mutations
Promoter region mutations
Chain termination mutations
Abnormal ribosomal RNA
While Ms. Anne Nemick was correctly diagnosed with beta-thalassemia minor, a closely related disease is termed beta-thalassemia major. What is an important clinical difference NOT considered a hallmark for the major form of thalassemia?
Systemic iron overload
Severe anemia resulting from the early death of erythroblasts in the bone marrow
Hemoglobin alpha chain aggregation
Decreases in erythropoietin levels
In general, all thalassemias are defined as a group of genetic disorders characterized by: A).The absence or reduced content of one or more hemoglobin component chains B). Severe, usually fatal anemia C). Neonatal onset D). An excess of fetal type hemoglobin E). Mutation which are invariably heterozygous
Spiro Site, the young college student diagnosed with hereditary spherocytosis, underwent which of the following operations in order to correct problems involving macrophage-RBC interactions?
Bone marrow transplant
Plasmapheressis (remove whole blood, replace the plasma, return the formed blood elements return modified blood to the patient)
Hereditary spherocytosis is characterized by mutations resulting in a deficiency in which membrane component? A). Spectrin B). Ankyrin C). Band 3 D). Band 4.2 E). Any of the above
Abnormal deformability of RBCs in hereditary spherocytosis results in which ONE of the following physiologic/biochemical alterations?
The altered RBCs pass too readily through the splenic venous sinuses
Splenic capillaries become greatly enlarged to accommodate the spherical RBCs
Brain damage occurs since O2 cannot be delivered effectively
Affected RBCs exhibit greatly decrease “life-time”
A 10-year-old child is brough to your office by his mother who tells you that the child has been lethargic and has had several bouts of diarrhea for the past couple of weeks. Testing reveals that the child as a parasitic infection. Which of the following cells would you expect to be MOST elevated at the site of infection?
A 57-year-old male patient, who is new in town, visits your office for a routine physical. He has no specific complaints and his physical examination was unremarkable. However, you did notice that his skin had a blue appearance, which he says has been that way all of his life. What enzymes deficiency is most likely responsible?
delta-aminolevulinic acid (ALA) synthase
Cytochrome b5 reductase
Hemoglobin disorders often arise as a result of a single amino acid substitution. Which of the following conditions occurs as a result of Glu Val substitution?
Sickle cell anemia
A mother brings her 6-year-old child to your office because he has been complaining of pain in the upper abdomen. You diagnose his condition as hemolytic anemia and correctly determine that it is caused by a deficiency in Glucose 6 phosphate dehydrogenase (G6PD). Which of the following is the most likely cause of the destruction to the red blood cells in this situation?
Inefficiency in converting reduced cytochrome b5 to its oxidized form
Ineffeciency in generating NADP+
Inefficiency in converting reduced glutathione to its oxidized form
Inefficiency in converting oxidized cytochrome b5 to its reduced form
Inefficiency in converting oxidized glutathione to its reduced form
A mentally retarded, nine-year old boy presents to your clinic with his parents for a second opinion. His chart indicates that he has pancytopenia, almost absent kidneys, and severe skeletal defects. He has spots of hyperpigmentation, microcephaly and underdevelopment of his genitals. You believe he has Fanconi anemia and proceed with the standard androgenic therapy. His parents ask you to explain what is going on biologically. You tell them that Fanconi anemia is a hereditary disease that causes defects in DNA repair and hypersensitivity to DNA-damaging agents. Which of the following would not damage DNA and therefore not elicit a hypersensitive reaction to DNA-damage?
The Expee’s rush their one-year-old son to a physician after returning from an extended summer beach trip in Playa Del Carmen. He has fair skin and has generally always had his adorable freckles, but over the last few weeks they have noticed strange skin-abnormalities such as prolonged reddening of the skin (erythema), thickening (keratosis) of the skin on his face and hands, and hyperpigmentation. Baby Expee’s eyes are also red and irritated. After a workup with the physician, the parents are informed that he has the rare autosomal photodermatoses (xeroderma pigmentosum). Due to his genetic abnormality, what mechanism of DNA repair does the child lack?
A mother presents to you with her 10-month-old daughter. She had taken her daughter out on a sailboat (long story short she has xeroderma pidmentosum). What happens to DNA exposed to UV light?
Which one of the following choices best defines the term telangiectases?
Visible spiderweb-like collections of small blood vessels
3-year-old boy was brought into the ER when his parents discovered blisters on his arms and legs. Grandmother does the same thing. Tests on the child revealed elevated levels of serum ferritin and plasma porphyrins. Being a teaching hospital, the physician told his intern that the enzyme responsible for the fifth step in heme production was also reduced throughout the body. What enzyme was the physician referring?
A 21 year old male presents with blisters and severe rash on his back, chest arms, and hands. He had been out at a lake celebrating his 21st with his friends and had a couple drinks (his first time to consume alcohol). Patient denies this happening before after being exposed to sunlight all day, and says his father and grandmother have had same symptoms after drinking alcohol so they don’t drink. What is the culprit here?
Which one of the following structures/ enzymes/ molecules helps regulate the biosynthesis of porphyrins via negative feedback.
Alpha-1-Antitrypsin Deficiency is an autosomal recessive genetic disorder that predisposes individuals to emphysema. Which of the following signs would not usually be manifested in individuals suffering from AATD?
Hyporesonance to percussion upon physical examination.
A non-smoker woman is tested positive for an alpha 1-antitrypsin deficiency. Her FEV/FVC is less than 75% and her ECG indicated right ventricular hypertrophy. Chest X-ray reveals hyper-lucent fields and decreased lung marking at periphery. As a result of the alpha 1-antitrypsin deficiency, which of the following enzymes is enabled to degrade elastin in her lungs?
A patient comes into your office complaining of flatulence, abdominal pain, and diarrhea. Patient has lactase deficiency, what disaccharide bond is unable to be broken in order to allow monosaccharide absorption?
beta 1,4 galactose and glucose
Alpha-1-antitrypsin is a crucial player in modulation of neutrophilic activity and diseases involving the lung. Which of the following best describes the 3D conformation of alpha-1-antitrypsin?
Alpha-helix and beta-pleated sheets
A 17-year-old African-american male presents with bloating, cramping, and diarrhea. He can’t eat dairy, what is he deficient in?
Where is lactase primarily activated in order to break down lactose into mono sugars?
Doctor suspects your child has a hereditary disease causing accumulation of fructose-1-phosphate. What is the disease and enzyme involved?
Hereditary fructose intolerance; enzyme aldolase B
A young patient is admitted into the ER irritable bowel movement, nausea, drowsiness, and sweating after trying new soda with high fructose corn syrup content. She has hereditary fructose intolerance, but refuses to follow a strict diet, which organ should be monitored the closest in this patient?
The molecular difference between the O and A blood antigen is
the A antigen has an additional N-acetylgalactosamine
I-cell disease (mucolipidosis II) is a disorder in which mannose-6-phosphate biosynthesis is defective. This causes the normal residents of the lysosome to be
Jesse Gelsinger had an ornithine transcarbamylase deficiency and was the first person to die during a gene therapy trial. What was the cause of death?
Pulmozyme is used therapeutically for cystic fibrosis. What is pulmozyme and how is it administered?
recombinant human DNase inhaled into the lungs.
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