Systemic Pathology

Systemic Pathology US Medical PG Question 1: A 78-year-old man dies suddenly from complications of acute kidney failure. An autopsy is performed and microscopic evaluation of the kidneys shows pale, swollen cells in the proximal convoluted tubules. Microscopic evaluation of the liver shows similar findings. Which of the following is the most likely underlying mechanism of these findings?

• A. Double-stranded DNA breakage
• B. Impaired Na+/K+-ATPase pump activity (Correct Answer)
• C. Free radical formation
• D. Cytochrome C release
• E. Cytoplasmic triglyceride accumulation

Systemic Pathology Explanation: ***Impaired Na+/K+-ATPase pump activity*** - **Acute kidney failure** leads to **hypoxia** and ATP depletion, which impairs the function of the **Na+/K+-ATPase pump** on the cell membrane. - Failure of this pump results in **intracellular accumulation of sodium** and water, causing **cellular swelling** and pallor as seen in the kidneys and liver. *Double-stranded DNA breakage* - This is primarily associated with **apoptosis** or **radiation injury**, which would lead to nuclear fragmentation and cellular death rather than simple cellular swelling. - While cell death can occur in acute kidney failure, the initial changes described (pale, swollen cells) are characteristic of **reversible cell injury** before extensive DNA damage. *Free radical formation* - **Free radical formation** (oxidative stress) can cause cellular injury, but it primarily leads to **lipid peroxidation of membranes** and damage to proteins and DNA, not directly to the widespread intracellular water accumulation described. - While part of the injury cascade, it's not the most direct mechanism for the initial gross and microscopic findings of swelling. *Cytochrome C release* - **Cytochrome C release** from mitochondria is a critical step in the **intrinsic pathway of apoptosis**, leading to programmed cell death. - The findings described (pale, swollen cells) are more indicative of **reversible cellular injury** or early necrosis, prior to the widespread activation of apoptosis. *Cytoplasmic triglyceride accumulation* - **Cytoplasmic triglyceride accumulation** (steatosis or fatty change) is often seen in conditions like **alcoholic liver disease** or **metabolic syndrome**. - While it can be a sign of cellular injury, it does not directly explain the generalized "pale, swollen cells" observed in both the kidneys and liver following acute kidney failure, which points to water influx.

Systemic Pathology US Medical PG Question 2: A scientist in Chicago is studying a new blood test to detect Ab to EBV with increased sensitivity and specificity. So far, her best attempt at creating such an exam reached 82% sensitivity and 88% specificity. She is hoping to increase these numbers by at least 2 percent for each value. After several years of work, she believes that she has actually managed to reach a sensitivity and specificity much greater than what she had originally hoped for. She travels to China to begin testing her newest blood test. She finds 2,000 patients who are willing to participate in her study. Of the 2,000 patients, 1,200 of them are known to be infected with EBV. The scientist tests these 1,200 patients' blood and finds that only 120 of them tested negative with her new exam. Of the patients who are known to be EBV-free, only 20 of them tested positive. Given these results, which of the following correlates with the exam's specificity?

• A. 82%
• B. 90%
• C. 84%
• D. 86%
• E. 98% (Correct Answer)

Systemic Pathology Explanation: ***98%*** - **Specificity** measures the proportion of **true negatives** among all actual negatives. - In this case, 800 patients are known to be EBV-free (actual negatives), and 20 of them tested positive (false positives). This means 800 - 20 = 780 tested negative (true negatives). Specificity = (780 / 800) * 100% = **98%**. *82%* - This value represents the *original sensitivity* before the scientist’s new attempts to improve the test. - It does not reflect the *newly calculated specificity* based on the provided data. *90%* - This value represents the *newly calculated sensitivity* of the test, not the specificity. - Out of 1200 EBV-infected patients, 120 tested negative (false negatives), meaning 1080 tested positive (true positives). Sensitivity = (1080 / 1200) * 100% = 90%. *84%* - This percentage is not directly derived from the information given for either sensitivity or specificity after the new test results. - It does not correspond to any of the calculated values for the new test's performance. *86%* - This percentage is not directly derived from the information given for either sensitivity or specificity after the new test results. - It does not correspond to any of the calculated values for the new test's performance.

Systemic Pathology US Medical PG Question 3: A 23-year-old woman is brought to the emergency department 30 minutes after stepping on a piece of broken glass. Physical examination shows a 3-cm, ragged laceration on the plantar aspect of the left foot. The physician uses hydrogen peroxide to clean the wound. Which of the following is the most likely mechanism of action of this disinfectant?

• A. Formation of free radicals (Correct Answer)
• B. Intercalation of DNA
• C. Crosslinking of proteins
• D. Halogenation of nucleic acids
• E. Congealing of cytoplasm

Systemic Pathology Explanation: ***Formation of free radicals*** - **Hydrogen peroxide** acts as an **oxidizing agent**, generating highly reactive **oxygen-free radicals** (e.g., superoxide, hydroxyl radicals) that damage microbial cellular components. - This **oxidative damage** disrupts proteins, lipids, and nucleic acids, leading to bacterial and viral cell death. *Intercalation of DNA* - This mechanism is characteristic of certain **chemotherapeutic agents** (e.g., doxorubicin, ethidium bromide) and some **antimicrobials**, which insert themselves between DNA base pairs, disrupting replication and transcription. - Hydrogen peroxide does not typically target DNA in this manner for its disinfectant action. *Crosslinking of proteins* - This mechanism is characteristic of **aldehydes** like **formaldehyde** and **glutaraldehyde**, which form covalent bonds between amino groups of proteins, denaturing them and disrupting cellular function. - While hydrogen peroxide can modify proteins, its primary disinfectant action is not through widespread protein crosslinking. *Halogenation of nucleic acids* - This mechanism is primarily associated with **halogens** such as **chlorine** and **iodine**, which react with nucleic acids to form halogenated compounds, thereby inactivating them. - Hydrogen peroxide, while an oxidizer, does not lead to halogenation as its primary mode of action. *Congealing of cytoplasm* - This mechanism, which refers to the coagulation or solidification of cellular contents, is typical of **alcohols** (e.g., ethanol, isopropanol) and some **heavy metal salts** that denature proteins and lipids, leading to cell lysis. - Hydrogen peroxide's action is more specific to oxidative damage rather than general cytoplasmic congealing.

Systemic Pathology US Medical PG Question 4: You conduct a medical research study to determine the screening efficacy of a novel serum marker for colon cancer. The study is divided into 2 subsets. In the first, there are 500 patients with colon cancer, of which 450 are found positive for the novel serum marker. In the second arm, there are 500 patients who do not have colon cancer, and only 10 are found positive for the novel serum marker. What is the overall sensitivity of this novel test?

• A. 450 / (450 + 10)
• B. 490 / (10 + 490)
• C. 490 / (50 + 490)
• D. 450 / (450 + 50) (Correct Answer)
• E. 490 / (450 + 490)

Systemic Pathology Explanation: ***450 / (450 + 50)*** - **Sensitivity** is defined as the proportion of actual positive cases that are correctly identified by the test. - In this study, there are **500 patients with colon cancer** (actual positives), and **450 of them tested positive** for the marker, while **50 tested negative** (500 - 450 = 50). Therefore, sensitivity = 450 / (450 + 50) = 450/500 = 0.9 or 90%. *450 / (450 + 10)* - This formula represents **Positive Predictive Value (PPV)**, which is the probability that a person with a positive test result actually has the disease. - It incorrectly uses the total number of **test positives** in the denominator (450 true positives + 10 false positives) instead of the total number of diseased individuals, which is needed for sensitivity. *490 / (10 + 490)* - This is actually the correct formula for **specificity**, not sensitivity. - Specificity = TN / (FP + TN) = 490 / (10 + 490) = 490/500 = 0.98 or 98%, which measures the proportion of actual negative cases correctly identified. - The question asks for sensitivity, not specificity. *490 / (50 + 490)* - This formula incorrectly mixes **true negatives (490)** with **false negatives (50)** in an attempt to calculate specificity. - The correct specificity formula should use false positives (10), not false negatives (50), in the denominator: 490 / (10 + 490). *490 / (450 + 490)* - This calculation incorrectly combines **true negatives (490)** and **true positives (450)** in the denominator, which does not correspond to any standard epidemiological measure. - Neither sensitivity nor specificity uses both true positives and true negatives in the denominator.

Systemic Pathology US Medical PG Question 5: A research team is studying the effects of a novel drug that was discovered to treat type 2 diabetes. In order to learn more about its effects, they follow patients who are currently taking the drug and determine whether there are adverse effects that exceed anticipated levels and may therefore be drug-related. They discover that the drug causes an excess of sudden cardiac death in 19 patients with renal failure out of 2 million total patients that are followed. Based on these results, an additional warning about this serious adverse effect is added to the investigator brochure for the drug. Which of the following clinical phase studies does this study most likely describe?

• A. Phase IV (Correct Answer)
• B. Phase II
• C. Phase V
• D. Phase III
• E. Phase I

Systemic Pathology Explanation: ***Phase IV*** - This study occurs **after a drug has been approved and marketed**, focusing on post-marketing surveillance for long-term safety, effectiveness, and real-world side effects in a large and diverse patient population. - The discovery of a rare but serious adverse effect (sudden cardiac death) in a large patient population (2 million) after the drug is already in use is characteristic of a **Phase IV clinical trial**. *Phase II* - Phase II trials involve a **larger group of patients (hundreds)** and focus on evaluating the drug's effectiveness and further assessing safety in patients with the target condition. - This phase is typically conducted **before widespread marketing** and would not involve 2 million patients. *Phase V* - There is **no widely recognized "Phase V"** in standard clinical trial terminology (Phases I-IV focus on drug development and post-marketing surveillance). - This term is sometimes used informally to refer to **health economics and outcomes research** or implementation studies, which are not described in the scenario. *Phase III* - Phase III trials are large-scale studies involving **thousands of patients** to confirm effectiveness, monitor side effects, compare the drug to standard treatments, and collect information for safe use. - While large, these trials are conducted **before regulatory approval** and marketing, and would not typically follow 2 million patients already taking the drug in the real world. *Phase I* - Phase I trials are the **first stage of human testing**, involving a small group of healthy volunteers (20-100) to assess safety, dosage, and pharmacokinetics. - The primary goal is to determine if the drug is safe enough for further testing, not to identify rare adverse events in a large patient population.

Systemic Pathology US Medical PG Question 6: An epidemiologist is evaluating the efficacy of Noxbinle in preventing HCC deaths at the population level. A clinical trial shows that over 5 years, the mortality rate from HCC was 25% in the control group and 15% in patients treated with Noxbinle 100 mg daily. Based on this data, how many patients need to be treated with Noxbinle 100 mg to prevent, on average, one death from HCC?

• A. 20
• B. 73
• C. 10 (Correct Answer)
• D. 50
• E. 100

Systemic Pathology Explanation: ***10*** - The **number needed to treat (NNT)** is calculated by first finding the **absolute risk reduction (ARR)**. - **ARR** = Risk in control group - Risk in treatment group = 25% - 15% = **10%** (or 0.10). - **NNT = 1 / ARR** = 1 / 0.10 = **10 patients**. - This means that **10 patients must be treated with Noxbinle to prevent one death from HCC** over 5 years. *20* - This would result from an ARR of 5% (1/0.05 = 20), which is not supported by the data. - May arise from miscalculating the risk difference or incorrectly halving the actual ARR. *73* - This value does not correspond to any standard calculation of NNT from the given mortality rates. - May result from confusion with other epidemiological measures or calculation error. *50* - This would correspond to an ARR of 2% (1/0.02 = 50), which significantly underestimates the actual risk reduction. - Could result from incorrectly calculating the difference as a proportion rather than absolute percentage points. *100* - This would correspond to an ARR of 1% (1/0.01 = 100), grossly underestimating the treatment benefit. - May result from confusing ARR with relative risk reduction or other calculation errors.

Systemic Pathology US Medical PG Question 7: A 57-year-old man is admitted to the ER due to an abrupt onset of abdominal pain that radiates to the back, nausea, and multiple vomiting episodes for the past 10 hours. He does not have any significant past medical history. He admits to drinking alcohol every night. During admission, he is found to have a body temperature of 37.5°C (99.5°F), a respiratory rate of 20/min, a pulse of 120/min, and a blood pressure of 120/76 mm Hg. He looks pale with sunken eyes and has significant epigastric tenderness and flank discoloration. An initial laboratory panel shows the following: Total count (WBC) 10,000/mm3 Platelet count 140,000/mm3 Serum glucose 160 mg/dL Serum LDH 500 IU/L Aspartate aminotransferase 400 IU/dL Serum Amylase 500 IU/L Serum Lipase 300 IU/L Which of the following combinations would best predict severity in this case?

• A. WBC, platelet count, AST
• B. Age, glucose, amylase
• C. Age, LDH, AST (Correct Answer)
• D. Glucose, LDH, AST
• E. AST, amylase, lipase

Systemic Pathology Explanation: ***Age, LDH, AST*** - The **Ranson's criteria** for predicting the severity of acute pancreatitis on admission include **age greater than 55 years**, **LDH greater than 350 IU/L**, and **AST greater than 250 IU/L**. - In this patient, his age is 57 years, LDH is 500 IU/L, and AST is 400 IU/L, all of which align with poor prognostic indicators according to Ranson's criteria. *WBC, platelet count, AST* - While **WBC count** is part of Ranson's criteria (greater than 16,000/mm3 is a poor prognostic sign), the patient's WBC is 10,000/mm3, which is not elevated enough to indicate severe pancreatitis. - **Platelet count** is not typically used as an acute prognostic indicator in Ranson's criteria for pancreatitis severity. *Age, glucose, amylase* - **Age greater than 55 years** and **glucose greater than 200 mg/dL** are initial Ranson's criteria for severity. However, the patient's glucose is 160mg/dL, which is not above the specified cutoff. - **Amylase** and **lipase** are diagnostic for pancreatitis but are not used as prognostic indicators within Ranson’s criteria to predict severity. *Glucose, LDH, AST* - **Glucose greater than 200 mg/dL**, **LDH greater than 350 IU/L**, and **AST greater than 250 IU/L** are all included in Ranson's criteria. However, because the patient’s glucose level (160 mg/dL) is below the cutoff of 200 mg/dL, this combination is not the **best** predictor of severity in this specific case. - The age of the patient is also an important factor in Ranson's criteria and is missing from this option. *AST, amylase, lipase* - While **AST greater than 250 IU/L** is a Ranson's criterion for severity, **amylase** and **lipase** levels, though elevated and diagnostic, are not used as prognostic indicators in Ranson's criteria for predicting the severity of acute pancreatitis. - Amylase and lipase levels often do not correlate with the severity of the disease.

Systemic Pathology US Medical PG Question 8: A 69-year-old man presents with progressive malaise, weakness, and confusion. The patient’s wife reports general deterioration over the last 3 days. He suffers from essential hypertension, but this is well controlled with amlodipine. He also has type 2 diabetes mellitus that is treated with metformin. On physical examination, the patient appears severely ill, weak and is unable to speak. His neck veins are distended bilaterally. His skin is mottled and dry with cool extremities, and he is mildly cyanotic. The respiratory rate is 24/min, the pulse is 94/min, the blood pressure is 87/64 mm Hg, and the temperature is 35.5°C (95.9°F). Auscultation yields coarse crackles throughout both lung bases. Which of the following best represents the mechanism of this patient’s condition?

• A. Barrier to cardiac flow
• B. Cardiac pump dysfunction (Correct Answer)
• C. Failure of vasoregulation
• D. Restriction of cardiac filling
• E. Loss of intravascular volume

Systemic Pathology Explanation: ***Cardiac pump dysfunction*** - The patient exhibits signs of **cardiogenic shock**, including **hypotension** (87/64 mmHg), **tachycardia** (94/min), **crackles** in the lungs (pulmonary edema), **distended neck veins**, and cool, mottled extremities, all indicative of the heart's inability to effectively pump blood. - The progressive malaise, weakness, and confusion suggest **poor end-organ perfusion** due to severely impaired cardiac output. *Barrier to cardiac flow* - This typically refers to conditions like **pulmonary embolism** or **aortic stenosis**, where there's an obstruction to blood flow. - While pulmonary embolism can cause cardiogenic shock, the diffuse crackles are more suggestive of direct pump failure rather than an acute obstructive event. *Failure of vasoregulation* - This mechanism is characteristic of **distributive shock**, such as **septic shock** or anaphylactic shock, where there is widespread vasodilation leading to hypotension. - **Warm extremities** and a bounding pulse are usually seen in early distributive shock, contrasting with the patient's cool, cyanotic extremities. *Restriction of cardiac filling* - This occurs in conditions like **cardiac tamponade** or **constrictive pericarditis**, where external compression or stiffness of the heart limits its ability to fill. - While neck vein distension can be present, the extensive pulmonary crackles point more to direct pump failure leading to back pressure in the pulmonary circulation, rather than primary filling restriction. *Loss of intravascular volume* - This mechanism describes **hypovolemic shock**, which results from significant fluid loss due to hemorrhage, severe dehydration, or burns. - Patients in hypovolemic shock typically present with **flat neck veins**, increased heart rate, and cool extremities, but generally lack the prominent pulmonary crackles caused by fluid overload from heart failure.

Systemic Pathology US Medical PG Question 9: A 62-year-old man is brought to the emergency department with fatigue, dry cough, and shortness of breath for 3 days. He reports a slight fever and has also had 3 episodes of watery diarrhea earlier that morning. Last week, he attended a business meeting at a hotel and notes some of his coworkers have also become sick. He has a history of hypertension and hyperlipidemia. He takes atorvastatin, hydrochlorothiazide, and lisinopril. He appears in mild distress. His temperature is 102.1°F (38.9°C), pulse is 56/min, respirations are 16/min, and blood pressure is 150/85 mm Hg. Diffuse crackles are heard in the thorax. Examination shows a soft and nontender abdomen. Laboratory studies show: Hemoglobin 13.5 g/dL Leukocyte count 15,000/mm3 Platelet count 130,000/mm3 Serum Na+ 129 mEq/L Cl- 100 mEq/L K+ 4.6 mEq/L HCO3- 22 mEq/L Urea nitrogen 14 mg/dL Creatinine 1.3 mg/dL An x-ray of the chest shows infiltrates in both lungs. Which of the following is the most appropriate next step in diagnosis?

• A. Urine antigen assay (Correct Answer)
• B. CT Chest
• C. Direct immunofluorescent antibody test
• D. Stool culture
• E. Polymerase chain reaction

Systemic Pathology Explanation: ***Urine antigen assay*** - This patient presents with **pneumonia symptoms** (low-grade fever, dry cough, dyspnea, bilateral infiltrates) along with **gastrointestinal symptoms** (watery diarrhea) and **hyponatremia**, after attending a hotel meeting with other sick attendees. These are classic features of **Legionnaires' disease**. - A **urine antigen assay** is a rapid and highly specific test for **Legionella pneumophila serogroup 1**, which causes the majority of Legionnaires' disease cases. *CT Chest* - A CT scan of the chest would provide more detailed imaging of the lung infiltrates but is typically used to characterize findings once pneumonia is diagnosed or to rule out other lung pathologies, not as an initial diagnostic test for the specific pathogen. - While it can reveal characteristic patterns, it doesn't identify the causative organism and is not the most appropriate *next step in diagnosis* for a presumed Legionella infection. *Direct immunofluorescent antibody test* - A **direct immunofluorescent antibody (DFA) test** is used to identify legionella in respiratory secretions. However, collecting a sufficiently good sputum sample can be difficult, especially with a **dry cough**. - Its sensitivity is lower than urine antigen testing for serogroup 1 and requires a respiratory sample, making it less convenient for initial diagnosis. *Stool culture* - While the patient has diarrhea, a **stool culture** would primarily detect typical bacterial enteric pathogens (e.g., Salmonella, Shigella, Campylobacter) and would not identify **Legionella**. - The diarrhea, in this context, is likely an extrapulmonary manifestation of Legionnaires' disease caused by Legionella, not a separate primary enteric infection. *Polymerase chain reaction* - **PCR testing** can detect Legionella DNA in respiratory samples, offering high sensitivity and specificity. - However, it is generally less rapid and widely available than the urine antigen test for initial diagnosis of Legionella pneumophila serogroup 1, which is the most common cause of Legionnaires' disease.

Systemic Pathology US Medical PG Question 10: A pathologist receives a patient sample for analysis. Cells in the sample are first labeled with fluorescent antibodies and then passed across a laser beam in a single file of particles. The light scatter and fluorescent intensity of the particles are plotted on a graph; this information is used to characterize the sample. This laboratory method would be most useful to establish the diagnosis of a patient with which of the following?

• A. Ventricular septal defect and facial dysmorphism with low T-lymphocyte count
• B. Painless generalized lymphadenopathy with monomorphic cells and interspersed benign histiocytes on histology
• C. Pancytopenia and deep vein thrombosis with intermittent hemoglobinuria (Correct Answer)
• D. Multiple opportunistic infections with decreased CD4 counts
• E. Vesicular lesions with dermatomal distribution and dendritic corneal ulcers

Systemic Pathology Explanation: ***Pancytopenia and deep vein thrombosis with intermittent hemoglobinuria*** - The described laboratory method is **flow cytometry**, which is the **gold standard for diagnosing paroxysmal nocturnal hemoglobinuria (PNH)** by detecting the absence of **CD55** and **CD59** on red blood cells due to impaired GPI anchor synthesis. - PNH classically presents with **pancytopenia**, **hemolytic anemia** (leading to hemoglobinuria), and a high risk of **thrombosis** (e.g., deep vein thrombosis). *Ventricular septal defect and facial dysmorphism with low T-lymphocyte count* - This clinical picture suggests **DiGeorge syndrome**, which involves a developmental defect of the **third and fourth pharyngeal pouches**, leading to thymic hypoplasia and **T-cell deficiency**. - While flow cytometry is used to quantify T-lymphocyte subsets (e.g., CD3, CD4, CD8), the primary method for diagnosing DiGeorge syndrome is **fluorescent in situ hybridization (FISH)** for a **22q11 deletion**, making it less ideal for flow cytometry diagnosis. *Painless generalized lymphadenopathy with monomorphic cells and interspersed benign histiocytes on histology* - This description with "**monomorphic cells**" is more consistent with certain **non-Hodgkin lymphomas** (e.g., Burkitt lymphoma) rather than Hodgkin lymphoma, which typically shows a **polymorphic** cellular infiltrate. - While flow cytometry can be useful in characterizing lymphomas by identifying cell surface markers, the diagnosis is primarily established by **lymph node biopsy and histopathology** with **immunohistochemistry**, making flow cytometry a supplementary rather than primary diagnostic tool. *Multiple opportunistic infections with decreased CD4 counts* - This presentation is highly suggestive of **HIV infection leading to AIDS**. The "decreased CD4 counts" are a key diagnostic and prognostic marker. - While flow cytometry is used to **monitor CD4 cell counts** in HIV patients, the initial diagnosis of HIV is established via **antibody/antigen combination tests** and confirmed by **Western blot** or **PCR for viral load**, not by flow cytometry. *Vesicular lesions with dermatomal distribution and dendritic corneal ulcers* - This clinical presentation points to **herpes zoster ophthalmicus** (shingles affecting the eye due to **varicella-zoster virus** reactivation). - Diagnosis is primarily **clinical** based on the characteristic rash and eye findings, although **PCR** of vesicular fluid can confirm VZV infection. Flow cytometry has no role in this diagnosis.

Systemic Pathology Flashcard 1 of 10

Question: What MSK pathology is characterized by a reduction in trabecular and cortical bone mass and interconnections? _____

Answer: Osteoporosis

Systemic Pathology Flashcard 2 of 10

Question: When performing Immunohistochemistry; a _____ stain can be used to identify Astrocytomas, Glioblastomas, Oligodendrogliomas, Ependymomas

Answer: Glial Fibrillary Acidic Protein (GFAP)

Systemic Pathology Flashcard 3 of 10

Question: Alzheimer disease is characterized by deposition of _____ in the brain, which forms amyloid plaques

Answer: A-amyloid

Systemic Pathology Flashcard 4 of 10

Question: Which types of amyloidosis deposit systemically? _____

Answer: Primary (AL) and secondary (AA)

Systemic Pathology Flashcard 5 of 10

Question: The E. coli O157:H7 _____-toxin damages endothelial cells, resulting in platelet microthrombi (e.g. HUS)

Answer: vero

Systemic Pathology Flashcard 6 of 10

Question: What pathology is characterized by degeneration of the basal nucleus of Meynert? _____

Answer: Alzheimer disease

Systemic Pathology Flashcard 7 of 10

Question: Niemann-Pick disease

Answer:

Extra Information: accumulation of sphingomyelinprogressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula foam cells Ashkenazi JewAR sphingomyelinase 

Systemic Pathology Flashcard 8 of 10

Question: Gaucher's disease

Answer:

Extra Information: accumulation of glucocerebrosidehepatosplenomegaly, aseptic necrosis of femur, bone crisescrumpled-paper cells Ashkenazi JewARglucocerebrosidase

Systemic Pathology Flashcard 9 of 10

Question: Patau's syndrome

Answer:

Extra Information: severe mental retardation, rocker-bottom feet, microopthalmia, microcephaly, cleft lip/palate, polydactyly, holoprosencephalyfirst trimester pregnancy screen: decreased - β-hCG, PAPP-A ultrasound: increased nuchal translucency in first trimesterdeath within first yeartrisomy 13

Systemic Pathology Flashcard 10 of 10

Question: In metachromatic leukodystrophy, sulfatides accumulate in the lysosomes of _____

Answer: oligodendrocytes

Extra Information:   https://onlinemeded.org/spa/metabolism?ref=anki Atlas: