Text Mode – Text version of the exam 1. While Nurse Janice continues her shift, she encounters a peculiar case in the cardiology ward: Mr. Thompson, who has been experiencing symptoms like right-sided heart disease and persistent diarrhea. Which syndrome might match these symptoms? A. Wiskott-Aldrich syndrome 2. Amidst a hectic night shift, dedicated nurse Jenna reviewed the lab reports for her patient, Mr. Thompson, who had presented with unusual symptoms. The reports indicated high IgA levels and thrombocytopenia. Jenna found herself contemplating which of the following medical conditions the lab results might be indicative of: A. Mallory-Weiss syndrome 3. On her day shift at the pediatric unit, nurse Lucy was looking after little Timothy, a 7-year-old boy. Timothy had recently been experiencing joint discomfort and inflammation suggestive of arthritis, a rather uncommon occurrence for his age. Lucy pondered which of the following syndromes, more commonly seen in males, might be associated with the presence of arthritis: A. Sjogren’s syndrome 4. Experienced nurse James found himself in an unusual situation. His patient, Mr. Carter, had been battling recurrent sinusitis and, according to his recent fertility test, presented with immotile sperm. James tried to figure out which of the following syndromes could correlate with these characteristics: A. Sjogren’s syndrome 5. One day, nurse Valerie was handed lab results for her patient, Mr. Spencer. These indicated unusually high IgE levels, and it was reported that Spencer’s neutrophils were not responding properly to fight off infections. Valerie reflected on which of the following syndromes could best match these findings: A. Mallory-Weiss syndrome 6. During a routine checkup, nurse Olivia noticed that her patient, young Molly, demonstrated unusually hypermobile joints and had noticeably loose skin. Olivia pondered over which of the following syndromes might account for such physical attributes: A. Kartagener’s syndrome 7. One afternoon, nurse Emily was tending to Mr. Rodriguez who had recently developed hematuria and signs of glomerulonephritis. He was also experiencing issues with his lungs. Emily mulled over which of the following syndromes might be the root of these health complications: A. Angelman’s syndrome 8. In the midst of her morning shift, nurse Mia found herself deep in thought. Her patient, Mrs. Clark, was experiencing joint inflammation, typical of arthritis, and also suffering from xerophthalmia, or dry eyes. Mia deliberated over which syndrome, more commonly seen in females, could link these symptoms together: A. Sjogren’s syndrome 9. In the neurology unit, nurse Andy was attending to Mr. Hughes, who displayed an unusual pattern of symptoms: motor loss on one side of the body and damage to the spinothalamic tract on the opposite side. Andy wondered which of the following syndromes could be responsible for these findings: A. Brown-Sequard syndrome 10. While on her late-night shift, nurse Isabella was carefully assessing her patient, Ms. Gomez. She noticed that Ms. Gomez was showing weakness in her hand muscles, and her clinical notes indicated an involvement of the C8/T1 nerve. Isabella thought about which of the following syndromes could explain these symptoms: A. Brown-Sequard syndrome 11. During an early morning shift, nurse Owen was caring for Mr. Baxter who had a family history of stroke. This got Owen contemplating about which of the following syndromes is known to escalate the risk of a patient suffering from a stroke: A. Acute coronary syndrome 12. In the gastroenterology unit, nurse Amelia was carefully observing her patient, Mrs. Baker, who complained of abdominal pain and showed signs of ascites. The medical reports also indicated occlusions in the hepatic vein. Amelia considered which of the following syndromes might be causing these symptoms: A. Acute respiratory distress syndrome (ARDS) 13. While performing her evening rounds, nurse Sofia noted that her young patient, Lily, had been diagnosed with abnormal development of the 3rd and 4th pharyngeal pouches. Sofia pondered which of the following syndromes could be associated with such a developmental anomaly: A. ARDS 14. During a critical care shift, nurse Jonathan was monitoring his patient, Mr. Thompson, who was experiencing a severe decrease in oxygen levels. The diagnosis pointed towards increased pulmonary permeability and fluid accumulation in the lung spaces. Jonathan mulled over which of the following syndromes could explain these clinical findings: A. Acute coronary syndrome 15. In the hepatology unit, nurse Laura was tending to her patient, Mr. Davis, who was experiencing complications due to inadequate liver excretion. Laura started to consider which of the following syndromes might be responsible for this type of dysfunction: A. Cri-du-chat syndrome 16. During her evening shift at the pediatric ward, nurse Heather observed her patient, little Jimmy, showing developmental delays and exhibiting unique behaviors. She knew his symptoms were likely due to a maternal genetic phenotype syndrome. Heather pondered over which of the following conditions could be the cause: A. Angelman’s syndrome 17. During her afternoon shift in the pediatric genetics unit, nurse Ava was studying a karyotype chart of her young patient, Lucy. She noticed a chromosomal deficit involving chromosome 5. Ava began to ponder which of the following syndromes could be associated with such a genetic anomaly: A. Cri-du-chat syndrome 18. While on her night shift, nurse Olivia was reviewing the medical history of her patient, Mr. Wright, who had been exposed to high doses of Tetracyclines. Olivia pondered over which of the following syndromes could be a potential consequence of this type of medication overuse: A. Edward’s syndrome 19. During her morning shift in the pediatric genetics unit, nurse Mia was examining the genetic profile of her patient, little Emma. She noticed a chromosomal deficit involving chromosome 13. Mia pondered over which of the following syndromes could be related to this genetic anomaly: A. Edward’s syndrome 20. During her afternoon shift in the pediatric genetics department, nurse Rachel was studying the karyotype chart of her young patient, Zachary. She observed a chromosomal deficit involving chromosome 18. Rachel pondered which of the following syndromes might be associated with such a genetic anomaly: A. Edward’s syndrome 1. Correct answer: D. Carcinoid syndrome. Carcinoid syndrome refers to a group of symptoms that can develop in people who have carcinoid cancer, which usually starts in the digestive tract or lungs. These cancers can produce an excess of certain chemicals, particularly serotonin, which can cause a variety of symptoms such as flushing, wheezing, and diarrhea. Right-sided heart disease is a key feature in this syndrome, due to the fibrosis caused by excessive serotonin levels affecting the heart valves. Consider a car’s engine that is suddenly producing an excessive amount of a certain substance (serotonin in this case), leading to other parts of the car (the heart) malfunctioning. Incorrect answer options: A. Wiskott-Aldrich syndrome. This is a rare, inherited disorder that typically affects males. It primarily causes immune system dysfunction leading to recurrent infections, an increased risk of autoimmune disorders, and a tendency for bleeding easily. It doesn’t fit Mr. Thompson’s symptoms. B. Mallory-Weiss syndrome. This condition is characterized by tears in the lining of the esophagus, usually caused by violent vomiting or severe coughing, and is typically associated with alcoholism. The main symptom is bloody vomit, which doesn’t match Mr. Thompson’s presentation. C. Job’s syndrome. Also known as Hyper IgE Syndrome, it’s a rare disorder of the immune system. It causes various skin symptoms, such as eczema, and lung infections, but it doesn’t typically present with the symptoms Mr. Thompson is showing. 2. Correct answer: D. Wiskott-Aldrich syndrome. Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by the clinical triad of thrombocytopenia (low platelet count), eczema, and recurrent infections due to immune defects. Immunoglobulin A (IgA) levels may be normal or elevated in individuals with WAS. This matches the lab findings for Mr. Thompson, with high IgA levels and thrombocytopenia. Think of it like a team where some members are absent (platelets) and others are overly active (IgA), causing an imbalance and problems for the team (the body). Incorrect answer options: A. Mallory-Weiss syndrome. Mallory-Weiss syndrome involves lacerations of the mucosa at the junction of the stomach and esophagus, usually caused by severe vomiting, coughing, or seizures. The primary symptom is hematemesis (vomiting blood). It does not typically involve changes in IgA levels or thrombocytopenia. B. Carcinoid syndrome. Carcinoid syndrome involves a set of symptoms caused by a carcinoid tumor that secretes serotonin or other chemicals into the bloodstream. The symptoms include flushing, diarrhea, and, in more severe cases, heart issues. It is not usually associated with high IgA levels or thrombocytopenia. C. Job’s syndrome. Job’s syndrome, or Hyper IgE Syndrome, is a rare immunodeficiency characterized by high levels of IgE, not IgA. It also involves recurrent skin and lung infections and the characteristic features of the face and skeleton. It does not typically cause thrombocytopenia. 3. Correct answer: B. Reiter’s syndrome. Reiter’s syndrome, also known as reactive arthritis, is characterized by the classic triad of arthritis, urethritis, and conjunctivitis, usually following an infection. Though it’s uncommon in children, it can occur and is more prevalent in males. The joint discomfort and inflammation that Timothy is experiencing could be suggestive of arthritis in the context of Reiter’s syndrome. Picture it like a domino effect; an infection (first domino) can trigger an immune response leading to inflammation in different parts of the body (remaining dominos), in this case, the joints. Incorrect answer options: A. Sjogren’s syndrome. This is an autoimmune disorder primarily characterized by dryness of the eyes and mouth, as the body’s immune system attacks its own moisture-producing glands. It’s more common in females and doesn’t typically present with arthritis, especially in children. C. Kartagener’s syndrome. Kartagener’s syndrome, a subset of primary ciliary dyskinesia, is characterized by a triad of situs inversus (organs on the opposite side of the body), chronic sinusitis, and bronchiectasis. Joint discomfort and inflammation are not typically associated with this syndrome. D. Ehlers-Danlos syndrome. Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels. While joint hypermobility is a common feature, it’s not typically associated with inflammatory arthritis. 4. Correct answer: B. Kartagener’s syndrome. Kartagener’s syndrome, also known as Primary Ciliary Dyskinesia, is a rare, autosomal recessive genetic disorder that affects the cilia, which are tiny, hair-like structures that line the respiratory tract and the sperm cells. When the cilia don’t function properly, it can cause a variety of problems, such as chronic sinusitis and male infertility due to the immotility of sperm (since the tail of the sperm, which is responsible for its motility, is essentially a specialized cilia). Think of it as a city’s transportation system: if the roads and rails (cilia) are faulty, traffic (mucus in respiratory tract, sperm in reproductive tract) can’t move efficiently, leading to complications. Incorrect answer options: A. Sjogren’s syndrome. Sjogren’s syndrome is an autoimmune disorder that mainly affects the glands that produce tears and saliva, leading to characteristic dry eyes and mouth. It does not typically cause recurrent sinusitis or affect sperm motility. C. Ehlers-Danlos syndrome. Ehlers-Danlos syndrome is a group of inherited disorders that primarily affect the skin, joints, and blood vessels. It is not typically associated with recurrent sinusitis or male infertility. D. Reiter’s syndrome. Reiter’s syndrome, also known as reactive arthritis, is characterized by arthritis, urethritis, and conjunctivitis, typically following an infection. It does not usually involve chronic sinusitis or issues with sperm motility. 5. Correct answer: D. Job’s syndrome. Job’s syndrome, also known as Hyper IgE Syndrome, is a rare immunodeficiency disorder characterized by elevated levels of immunoglobulin E (IgE), recurrent skin and lung infections, and a specific set of facial and skeletal features. The hallmark of the condition is an abnormal neutrophil function, leading to an impaired immune response to infection. In simpler terms, think of IgE as being over-enthusiastic security alarms that go off excessively (high IgE levels), while the actual security forces (neutrophils) are slacking off and not responding adequately to threats (infections). Incorrect answer options: A. Mallory-Weiss syndrome. Mallory-Weiss syndrome is characterized by lacerations at the junction of the stomach and esophagus, typically brought on by severe vomiting, coughing, or seizures. This syndrome is not associated with high levels of IgE or abnormal neutrophil function. B. Carcinoid syndrome. Carcinoid syndrome results from a carcinoid tumor secreting serotonin or other chemicals into the bloodstream, resulting in flushing, diarrhea, and in more severe cases, heart issues. It doesn’t typically involve alterations in IgE levels or neutrophil function. C. Wiskott-Aldrich syndrome. Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia (low platelet count), eczema, and recurrent infections due to immune defects. However, WAS is not characterized by elevated IgE levels or neutrophils not responding properly to fight off infections. 6. Correct answer: C. Ehlers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hypermobility of the joints, skin hyperextensibility (loose skin), and tissue fragility. These symptoms occur because EDS affects the body’s ability to produce strong and flexible collagen, the “glue” that holds our body together. Imagine a book with a weak binding; the pages (our joints and skin) are more likely to move freely and beyond the normal range. Incorrect answer options: A. Kartagener’s syndrome. Kartagener’s syndrome is a genetic condition affecting the cilia – the tiny hair-like structures that line the respiratory tract and the sperm cells. It is characterized by a triad of situs inversus (organs on the opposite side of the body), chronic sinusitis, and bronchiectasis. It does not typically present with joint hypermobility and loose skin. B. Reiter’s syndrome. Reiter’s syndrome, also known as reactive arthritis, is characterized by the triad of arthritis, urethritis, and conjunctivitis, typically following an infection. It doesn’t involve hypermobile joints or loose skin. D. Sjogren’s syndrome. Sjogren’s syndrome is an autoimmune disorder that mainly affects the glands that produce tears and saliva, leading to characteristic dry eyes and mouth. It is not associated with hypermobility of the joints or skin hyperextensibility. 7. Correct answer: C. Goodpasture’s syndrome. Goodpasture’s syndrome, also known as anti-glomerular basement membrane disease, is a rare autoimmune disorder that affects the lungs and kidneys. It is characterized by the presence of circulating autoantibodies that attack the glomerular and alveolar basement membranes, causing glomerulonephritis (inflammation of the kidney’s filtering units) and lung disease, often presenting as hemoptysis (coughing up blood). In essence, imagine the body’s immune system as a confused security guard who, instead of protecting the premises (body), starts damaging the property (kidneys and lungs) itself. Incorrect answer options: A. Angelman’s syndrome. Angelman’s syndrome is a genetic disorder characterized by severe intellectual and developmental disability, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually, a happy demeanor. It does not typically involve renal or pulmonary manifestations. B. Brown-Sequard syndrome. Brown-Sequard syndrome is a rare neurological condition typically caused by a lesion on one side of the spinal cord. This results in weakness or paralysis on the side of the body where the spinal cord injury occurred and loss of pain and temperature sensation on the opposite side. It is not associated with glomerulonephritis or lung disease. D. Thoracic outlet syndrome. Thoracic outlet syndrome is a group of disorders that occur when the blood vessels or nerves in the space between the collarbone and the first rib (thoracic outlet) become compressed. This can cause pain in the shoulders and neck and numbness in the fingers. It does not typically involve kidney and lung complications. 8. Correct answer: A. Sjogren’s syndrome. Sjogren’s syndrome is an autoimmune disorder that mainly affects the glands that produce tears and saliva, leading to the characteristic dry eyes (xerophthalmia) and mouth. Additionally, individuals with Sjogren’s syndrome often experience fatigue and joint pain or arthritis. It’s like the body’s maintenance system (immune system) mistakenly attacks the body’s own lubrication factories (tear and salivary glands), leading to decreased production. Also, the immune system can cause inflammation in joints, similar to a wrong alarm triggering a fire hose to cause water damage (inflammation) in an area. Incorrect answer options: B. Kartagener’s syndrome. Kartagener’s syndrome is a genetic condition affecting the cilia – the tiny hair-like structures that line the respiratory tract and the sperm cells. It is characterized by a triad of situs inversus (organs on the opposite side of the body), chronic sinusitis, and bronchiectasis. It does not typically involve arthritis or dry eyes. C. Reiter’s syndrome. Reiter’s syndrome, also known as reactive arthritis, is characterized by the triad of arthritis, urethritis, and conjunctivitis, typically following an infection. While it does involve arthritis, it doesn’t typically cause dry eyes. D. Ehlers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hypermobility of the joints, skin hyperextensibility (loose skin), and tissue fragility. It doesn’t typically present with dry eyes or arthritis. 9. Correct answer: A. Brown-Sequard syndrome. Brown-Sequard syndrome, often due to a lesion on one side of the spinal cord, results in a characteristic pattern of symptoms. On the side of the lesion, there is ipsilateral (same side) motor loss due to damage to the corticospinal tract, which controls voluntary motor function. Conversely, on the side opposite the lesion, there is a loss of pain and temperature sensation due to damage to the spinothalamic tract. This can be thought of as a partially working highway with one lane (the motor control lane) being blocked on one side and the lane for sensation blocked on the other side. Incorrect answer options: B. Goodpasture’s syndrome. Goodpasture’s syndrome is an autoimmune disorder affecting the kidneys and lungs, leading to glomerulonephritis and pulmonary hemorrhage. It is not associated with the spinal cord or the neurologic symptoms seen in Brown-Sequard syndrome. C. Thoracic outlet syndrome. Thoracic outlet syndrome is a group of disorders that occur when the blood vessels or nerves in the space between the collarbone and the first rib (thoracic outlet) become compressed. This can cause pain in the shoulders and neck and numbness in the fingers. This syndrome does not cause the specific pattern of motor and sensory loss seen in Brown-Sequard syndrome. D. Angelman’s syndrome. Angelman’s syndrome is a genetic disorder characterized by severe intellectual and developmental disability, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually, a happy demeanor. It is not associated with the spinal cord or the specific neurologic findings seen in Brown-Sequard syndrome. 10. Correct answer: D. Thoracic outlet syndrome. Thoracic outlet syndrome is a condition characterized by compression of the nerves or blood vessels that pass from the chest to the upper extremity, typically involving the lower brachial plexus (nerves C8 and T1). Symptoms include weakness and numbness in the hand, pain in the shoulder and neck, and sometimes vascular symptoms like coolness or color change in the hand. Imagine the nerves and blood vessels as wires and pipes running through a narrow tunnel. If the tunnel becomes too narrow or congested (due to injury, certain anatomical conditions, or repetitive movement), it can squeeze or compress the wires and pipes, disrupting normal function. Incorrect answer options: A. Brown-Sequard syndrome. Brown-Sequard syndrome is a neurological condition resulting from a lesion to one side of the spinal cord. It causes a characteristic pattern of symptoms such as ipsilateral motor loss and contralateral loss of pain and temperature sensation, but it doesn’t specifically involve hand weakness or C8/T1 nerve involvement. B. Goodpasture’s syndrome. Goodpasture’s syndrome is an autoimmune disease that affects the lungs and kidneys, resulting in pulmonary hemorrhage and glomerulonephritis. It does not involve nerve compression or symptoms in the hand. C. Angelman’s syndrome. Angelman’s syndrome is a genetic disorder that leads to severe intellectual and developmental disability, including issues with movement and balance, frequent laughter or smiling, and a happy demeanor. It does not involve symptoms such as weakness in hand muscles or involvement of the C8/T1 nerve. 11. Correct answer: A. Acute coronary syndrome. Acute coronary syndrome (ACS) is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart. It includes conditions such as myocardial infarction (heart attack) and unstable angina. Both ACS and stroke are part of cardiovascular diseases, and many risk factors are common for both, including smoking, high blood pressure, high cholesterol, obesity, diabetes, and a sedentary lifestyle. In fact, people with ACS are at an increased risk of stroke, especially in the first few weeks after the cardiac event. Think of it like a car engine (the heart) pumping oil (blood) through the car (body). If the pump is failing (ACS), other parts of the car (like the brain) may not get enough oil (blood), leading to problems (stroke). Incorrect answer options: B. DiGeorge’s syndrome. DiGeorge’s syndrome, or 22q11.2 deletion syndrome, is a genetic disorder that results in poor development of several body systems. It can lead to heart defects, poor immune system function, and developmental delay, but it is not typically associated with an increased risk of stroke. C. ARDS. Acute respiratory distress syndrome (ARDS) is a serious lung condition causing low oxygen levels in the blood. While ARDS can be a severe and life-threatening condition, it does not directly increase the risk of stroke. D. Budd-Chiari syndrome. Budd-Chiari syndrome is a condition caused by occlusion of the hepatic veins that drain the liver. It can lead to liver damage, including cirrhosis and liver failure. However, this condition does not directly raise the risk of stroke. 12. Correct answer: D. Budd-Chiari syndrome. Budd-Chiari syndrome is a rare condition characterized by occlusion of the hepatic veins that drain the liver. This can lead to a variety of symptoms such as abdominal pain, hepatomegaly (an enlarged liver), ascites (fluid accumulation in the abdomen), and eventually liver failure if not treated. In other words, if we consider the liver as a factory for processing substances in the body, Budd-Chiari syndrome is like a traffic jam at the factory’s exit gates, causing a build-up of products and congestion inside the factory. Incorrect answer options: A. Acute respiratory distress syndrome (ARDS). ARDS is a serious lung condition characterized by widespread inflammation in the lungs, leading to difficulty breathing, rapid breathing, and bluish skin coloration. It doesn’t typically cause abdominal pain or ascites, nor does it involve occlusion of the hepatic veins. B. Acute coronary syndrome. Acute coronary syndrome refers to a group of conditions associated with sudden, reduced blood flow to the heart, like heart attacks and unstable angina. While it can be life-threatening, it doesn’t usually result in abdominal pain, ascites, or occlusions in the hepatic veins. C. DiGeorge’s syndrome. DiGeorge’s syndrome is a disorder caused by the deletion of a small piece of chromosome 22. It can lead to heart defects, poor immune system function, and a delay in development. However, it’s not typically associated with abdominal pain, ascites, or occlusions in the hepatic veins. 13. Correct answer: C. DiGeorge’s syndrome. DiGeorge’s syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. One of the key manifestations of this condition is the abnormal development of the 3rd and 4th pharyngeal pouches, which are structures in the developing embryo that eventually form the thymus and parathyroid glands. This can lead to issues with calcium regulation and immune function. Imagine these pouches as a construction site where key organs are supposed to be built. In DiGeorge’s syndrome, the blueprints for this construction are flawed, leading to incomplete or defective building of these structures. Incorrect answer options: A. ARDS. Acute Respiratory Distress Syndrome (ARDS) is a severe lung condition that leads to low oxygen levels in the blood. It doesn’t involve the development of the pharyngeal pouches. B. Budd-Chiari syndrome. Budd-Chiari syndrome is characterized by the blockage of the hepatic veins that drain the liver. It doesn’t involve the development of the pharyngeal pouches. D. Acute coronary syndrome. Acute coronary syndrome includes conditions like heart attacks and unstable angina, where there is a sudden reduction in blood flow to the heart. It doesn’t involve the development of the pharyngeal pouches. 14. Correct answer: B. ARDS. Acute Respiratory Distress Syndrome (ARDS) fits the clinical findings that nurse Jonathan observed in Mr. Thompson. ARDS is a severe lung condition that occurs when fluid fills up the air sacs (alveoli) in the lungs, hindering the transfer of oxygen into the blood, leading to low oxygen levels. This increase in permeability and fluid accumulation in the lungs can be compared to a sponge that becomes oversaturated with water, preventing air from passing through it effectively. Incorrect answer options: A. Acute coronary syndrome. Acute coronary syndrome is a term used for conditions where blood flow to the heart is suddenly blocked, leading to symptoms of chest pain and possibly a heart attack. It does not directly cause an increase in pulmonary permeability or fluid accumulation in the lungs. C. DiGeorge’s syndrome. DiGeorge’s syndrome involves the deletion of a small part of chromosome 22, leading to issues with the development of certain body systems. It is associated with heart defects, poor immune system function, and low levels of calcium, but it does not typically result in increased pulmonary permeability or fluid accumulation in the lungs. D. Budd-Chiari syndrome. Budd-Chiari syndrome is a rare condition characterized by the blockage of the hepatic veins that drain the liver. While it can cause symptoms such as abdominal pain and fluid accumulation in the abdomen (ascites), it does not cause increased pulmonary permeability or fluid accumulation in the lungs. 15. Correct answer: B. Dubin-Johnson syndrome. Dubin-Johnson syndrome is a condition that causes an increase in the levels of a substance called conjugated bilirubin in the blood. The syndrome is caused by a mutation in the gene that provides instructions for a protein that moves certain molecules, including conjugated bilirubin, out of liver cells. Thus, the body’s ability to excrete conjugated bilirubin into bile, a fluid produced by the liver to digest fats, is reduced. This inability to effectively excrete conjugated bilirubin is similar to a busy airport where outgoing flights (conjugated bilirubin) can’t take off due to a problem at the control tower (protein function), leading to a backlog of passengers (increased bilirubin levels). Incorrect answer options: A. Cri-du-chat syndrome. Cri-du-chat syndrome is a rare genetic disorder that results from missing a piece of chromosome 5. Its name is a French term (“cat-cry” or “call of the cat”) referring to the characteristic cat-like cry of affected children. It doesn’t involve liver excretion issues. C. Edward’s syndrome. Edward’s syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. This condition results in severe intellectual and developmental problems, including heart defects, kidney problems, and other physical abnormalities. However, it does not specifically involve dysfunction in liver excretion. D. Fanconi’s syndrome. Fanconi’s syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. It does not affect the liver or its excretion processes. 16. Correct answer: A. Angelman’s syndrome. Angelman syndrome is a genetic disorder that primarily affects the nervous system, causing developmental delays, unique behaviors like a happy demeanor, frequent laughter, and hyperactivity, and sometimes seizures. The disorder is caused by a loss of function in the UBE3A gene inherited from the mother. Think of it like a car built with a part (the UBE3A gene) from the mother’s blueprint. If that part is missing or faulty, the car (the child) won’t function as it should. Incorrect answer options: B. Thoracic outlet syndrome. Thoracic outlet syndrome is a group of disorders that occur when the blood vessels or nerves in the space between your collarbone and your first rib (thoracic outlet) become compressed. This can cause pain in your shoulders and neck and numbness in your fingers. It’s not typically associated with developmental delays or maternal genetic inheritance. C. Goodpasture’s syndrome. Goodpasture’s syndrome is an autoimmune disorder characterized by the body mistakenly producing antibodies against collagen in the lungs and kidneys, leading to bleeding in the lungs and kidney inflammation. This syndrome is not known to cause developmental delays, nor is it genetically inherited. D. Brown-Sequard syndrome. Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis on one side of the body and a loss of sensation on the opposite side. It’s typically caused by a spinal cord injury rather than genetic factors. 17. Correct answer: A. Cri-du-chat syndrome. Cri-du-chat syndrome is a rare genetic disorder due to a partial deletion (monosomy) of chromosome 5. Its name is a French term (“cat-cry” or “call of the cat”) referring to the characteristic cat-like cry of affected children. It is associated with severe intellectual disability and physical abnormalities. Consider a book (the genome) that’s supposed to contain all the instructions for building and operating a human body. If a few pages (the part of chromosome 5) are missing, certain parts of the body won’t be built correctly, and certain systems won’t operate as they should. Incorrect answer options: B. Dubin-Johnson syndrome. Dubin-Johnson syndrome is a disorder of bilirubin metabolism, leading to an increase in serum bilirubin, often manifesting as jaundice. It is caused by mutations in the ABCC2 gene, not a chromosomal deletion. C. Edward’s syndrome. Edward’s syndrome, also known as Trisomy 18, is a chromosomal disorder characterized by the presence of an extra copy of all or part of chromosome 18, rather than a deletion. D. Fanconi’s syndrome. Fanconi’s syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. It can be caused by a variety of factors, including genetic mutations, but not typically by large chromosomal deletions. 18. Correct answer: C. Fanconi’s syndrome. Fanconi’s syndrome is a disorder affecting the proximal renal tubules of the kidney, where the kidneys do not properly reabsorb electrolytes and nutrients back into the body but instead ‘spill’ them into the urine. High doses of certain medications, including outdated tetracyclines (a type of antibiotic), can potentially cause Fanconi’s syndrome. Think of it as if the kidneys were a recycling center, sorting out waste from useful materials. Normally, they’d carefully sort through everything, sending the waste away and keeping the useful stuff. But in Fanconi’s syndrome, they’re like a broken recycling center that accidentally throws away a lot of useful stuff along with the trash. Incorrect answer options: A. Edward’s syndrome. Edward’s syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra copy of all or part of chromosome 18. It is not caused by exposure to any specific medication. B. Cri-du-chat syndrome. Cri-du-chat syndrome is a rare genetic disorder due to a partial deletion (monosomy) of chromosome 5. This condition is not a result of medication exposure but a chromosomal anomaly. D. Dubin-Johnson syndrome. Dubin-Johnson syndrome is an inherited disorder that causes an increase in the serum bilirubin level (hyperbilirubinemia), often noticed as jaundice. It is due to a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile. It is not related to tetracycline exposure. 19. Correct answer: C. Patau’s syndrome. Patau’s syndrome, also known as Trisomy 13, is a severe genetic disorder caused by having an extra copy of chromosome 13. It is characterized by a variety of health problems including intellectual disability and physical abnormalities such as cleft lip or palate, small or poorly developed eyes, and extra fingers or toes. Incorrect answer options: A. Edward’s syndrome. Edward’s syndrome, or Trisomy 18, is a genetic disorder caused by the presence of an extra chromosome 18. It is not associated with chromosome 13. B. Down syndrome. Down syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It’s not associated with chromosome 13. D. Dubin-Johnson syndrome. Dubin-Johnson syndrome is a rare, inherited disorder characterized by intermittent jaundice, primarily caused by a defect in the ability of hepatocytes to secrete conjugated bilirubin into bile. It is not related to an anomaly in chromosome 13. 20. Correct answer: A. Edward’s syndrome. Edward’s syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18. It is characterized by severe intellectual disability and numerous physical abnormalities including a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Think of the human genome as a huge manual that provides instructions for building and maintaining the human body. This manual consists of chapters, which are analogous to our chromosomes. In Edward’s syndrome, it’s like having an extra copy of chapter 18 in our manual. This extra copy messes up the construction and maintenance process leading to various physical and developmental abnormalities. Imagine trying to assemble a piece of furniture with duplicated instructions for one of the steps – it would cause confusion and might result in a malfunctioning product. Incorrect answer options: B. Fanconi’s syndrome. Fanconi’s syndrome is a disorder of the kidney’s proximal tubules in which certain substances normally absorbed into the bloodstream by the kidneys are instead released into the urine. It is not associated with chromosome 18. C. Cri-du-chat syndrome. Cri-du-chat syndrome, or “Cry of the cat” syndrome, is caused by a deletion of the end of the short (p) arm of chromosome 5. It is not associated with chromosome 18. D. Dubin-Johnson syndrome. Dubin-Johnson syndrome is a rare, inherited disorder characterized by intermittent jaundice, primarily caused by a defect in the ability of hepatocytes to secrete conjugated bilirubin into bile. It is not related to an anomaly in chromosome 18.Practice Mode
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Questions
B. Mallory-Weiss syndrome
C. Job’s syndrome
D. Carcinoid syndrome
B. Carcinoid syndrome
C. Job’s syndrome
D. Wiskott-Aldrich syndrome
B. Reiter’s syndrome
C. Kartagener’s syndrome
D. Ehlers-Danlos syndrome
B. Kartagener’s syndrome
C. Ehlers-Danlos syndrome
D. Reiter’s syndrome
B. Carcinoid syndrome
C. Wiskott-Aldrich syndrome
D. Job’s syndrome
B. Reiter’s syndrome
C. Ehlers-Danlos syndrome
D. Sjogren’s syndrome
B. Brown-Sequard syndrome
C. Goodpasture’s syndrome
D. Thoracic outlet syndrome
B. Kartagener’s syndrome
C. Reiter’s syndrome
D. Ehlers-Danlos syndrome
B. Goodpasture’s syndrome
C. Thoracic outlet syndrome
D. Angelman’s syndrome
B. Goodpasture’s syndrome
C. Angelman’s syndrome
D. Thoracic outlet syndrome
B. DiGeorge’s syndrome
C. ARDS
D. Budd-Chiari syndrome
B. Acute coronary syndrome
C. DiGeorge’s syndrome
D. Budd-Chiari syndrome
B. Budd-Chiari syndrome
C. DiGeorge’s syndrome
D. Acute coronary syndrome
B. ARDS
C. DiGeorge’s syndrome
D. Budd-Chiari syndrome
B. Dubin-Johnson syndrome
C. Edward’s syndrome
D. Fanconi’s syndrome
B. Thoracic outlet syndrome
C. Goodpasture’s syndrome
D. Brown-Sequard syndrome
B. Dubin-Johnson syndrome
C. Edward’s syndrome
D. Fanconi’s syndrome
B. Cri-du-chat syndrome
C. Fanconi’s syndrome
D. Dubin-Johnson syndrome
B. Down syndrome
C. Patau’s syndrome
D. Dubin-Johnson syndrome
B. Fanconi’s syndrome
C. Cri-du-chat syndrome
D. Dubin-Johnson syndromeAnswers and Rationales