Diagnosis

Question 1

Diarrhea.Types.Diagnostic-Classification

Answer 1

1. Acute
2. Chronic
   
   1. Inflammatory
   2. Fatty
   3. Watery
      
      1. Osmotic
      2. Secretory
3. Abnormal-motility
4. Exudative
5. Ano-rectal-dysfunction

Question 2

How can we clinically figure out the mechanism of diarrhea?

Answer 2

1. Effect of fasting:
   
   1. Stops: Osmotic diarrhea
   2. Continues: secretory.
2. Volume of stool:
   
   1. Small volume: osmotic, ano-rectal
   2. Large volume: secretory diarrhea.
3. Osmolar gap:
   
   1. Large: Osmotic diarrhea
   2. Small: secretory diarrhea
4. Blood and pus in feces: Exudative
5. Fecal incontinence: Ano-rectal dysfunction

Question 3

Diarrhea+Constipation+Abdominal-pain

Recurrent abdominal pain or discomfort and a marked change in bowel habit for at least six months, with symptoms experienced on at least three days of at least three months. Two or more of the following must apply:

1. Pain is relieved by a bowel movement
2. Onset of pain is related to a change in frequency of stool
3. Onset of pain is related to a change in the appearance of stool.

Answer 3

IBS

ROME III critera

Question 4

Diarrhea.Stool-Osmolar-gap

Answer 4

Osmolar gap = 290 − ([Na+] + [K+]) × 2

1. Osmolar gap > 40 suggests osmotic diarrhea
2. Osmolar gap < 40 suggests secretory diarrhea

Question 5

Diarrhea.bloody + abdominal pain + age > 50

If abdominal pain and bloody diarrhea occur together in a patient older than 50 years, consider:

Answer 5

Ischemic Colitis

Question 6

Diarrhea.chronic

Answer 6

Lasts longer than 4 weeks

Question 7

Diarrhea.chronic.functional-vs-organic

Answer 7

1. Fever
2. Weight loss
3. Arthritis
4. Signs and symptoms of malabsorption

Question 8

Diarrhea.Chronic.massive

Massive diarrhea
WDHA syndrome (watery diarrhea, hypokalemia, achlorhydria

Answer 8

Vasoactive intestinal peptide tumors (VIPomas)

Question 9

Diarrhea.Endocrine-causes

Answer 9

1. Diabetes
2. Hyperthyroidism
3. Adrenal insufficiency
4. Vasoactive intestinal peptide tumors (VIPomas)
5. Carcinoid syndrome
6. Medullary thyroid cancer
7. Gastrinoma
8. Mastocytosis

Question 10

Diarrhea.inflammatory-causes

Answer 10

1. Ulcerative colitis
2. Crohn disease
3. Microscopic colitis
4. Eosinophilic gastroenteritis

Question 11

Osmotic diarrhea: mechanism and examples

Answer 11

osmotically active solutes not absorbed from the gut lume causing passive water loss across the mucosa of the duodenum and jejunum, overwhelming the absorptive capacities of the ileum and colon

Diarrhea stops when oral intake stops

Volume < 1 L/day

Question 12

Diarrhea.right-sided-valvular-heart-disease

Flushing
Abdominal pain
Wheezing
Right-sided valvular disease

Answer 12

Carcinoid

Question 13

Diarrhea.Steatorrhea.causes

Answer 13

1. Maldigestion:
   
   1. Pancreatic exocrine insufficiency
   2. Bacterial overgrowth
   3. Liver disease
2. Malabsorption:
   
   1. Celiac sprue
   2. Tropical sprue
   3. Whipple disease
   4. Ischemia

Question 14

Diarrhea.Steatorrhea.malabsorptive-causes

Answer 14

1. Celiac sprue
2. Tropical sprue
3. Whipple disease
4. Ischemia

Question 15

Diarrhea.WorkUp

Answer 15

1. StandardTests
2. Fecal leukocytes
3. Bacterial culture
4. Ova and parasites
5. Clostridium difficile toxin assay
6. 72-hour quantitative stool collection for volume
7. Stool electrolytes for osmolar gap calculation
8. Qualitative and quantitative fecal fat on a high-fat diet (e.g., 72 hr, 100 g fat/day)
9. Stool phenolphthalein (lax abuse)
10. Tests for malabsorption
    
    1. d-Xylose testHydrogen breath test
    2. Tests for lactose intolerance

Question 16

Diarrhea.WorkUp.d-Xylose

Answer 16

1. Measures the absorptive capacity of the proximal small bowel
2. Urine and blood are collected after 25 g oral xylose is administered
3. Abnormal test suggests small bowel mucosal disease or bacterial overgrowth
4. Normal in pancreatic enzyme deficiency

Question 17

Diarrhea

Pruritus
Flushing
Abdominal pain
Headache
Urticaria pigmentosa—macular lesions that urticate when stroked (Darier’

Answer 17

Mastocytosis

1. 24-hr urine histamine and metabolites
2. Serum tryptase
3. Skin biopsy

Question 18

GI.bacterial-overgrowth-syndrome.Dx

Answer 18

1. 14C-glycocholate breath test and 14C-d-xylose breath tests
2. d-Xylose sensitivity and specificity approach 90%
3. Hydrogen: Low sensitivity and specificity
4. Normalization of Schilling test after antibiotics is highly suggestive
5. Gold standard: small bowel aspirate culture

Question 19

Multisystem-Sx.diarrhea-fever-arthritis-dementia-CHF

Presents with diarrhea, steatorrhea, abdominal pain, weight loss, migratory arthritis, and fever

Neurologic (dementia, ocular disturbances, meningoencephalitis, cerebellar symptoms), cardiac (congestive heart failure, pericarditis, valvular heart disease), and ophthalmologic features may be present

Answer 19

Whipple

Question 20

Multisystem.GI-predominant

bloating+steatorrhea+dematitis+arthritis+hypocalcemia

Folate may be elevated

Answer 20

Bacterial overgrowth syndrome

Question 21

A 56-year-old man has had profuse watery diarrhea for 3 months. Measured stool electrolytes are as follows: Na+ 30 mmol/L, K+ 85 mmol/L, Cl− 15 mmol/L, and HCO3− 18 mmol/L. Which diagnosis is least likely?

1. Vasoactive intestinal peptide tumor (VIPoma)
2. Lactose intolerance
3. Laxative abuse
4. Celiac sprue

Answer 21

VIPoma

The patient has a stool osmolar gap of 60. Since it is greater than 40, it is suggestive of an osmotic diarrhea. VIPomas cause secretory diarrhea and no osmotic gap. The other three all cause osmotic diarrhea.

Question 22

Joint-Stiffness.Shoulder

Subacute shoulder pain, globally reduced motion; normal X-ray

Answer 22

Adhesive capsulitis

Question 23

Joint-stiffness-and-pain.Shoulder

Limited adduction, weakness with active abduction, particularly when the arm is in neutral position

Answer 23

Supraspinatus tear

Question 24

Pain.back

Pain of lumbar spinal stenosis is relieved by

Answer 24

Leaning forward

Question 25

Hematologic-abnormalities

Thrombocytopenia + MAHA

Answer 25

TTP

Question 26

Joint-pain

Arthritis, erythema nodosum, hilar adenopathy

Answer 26

Lofgren’s

Acute sarcoidosis

Question 27

Multisystem.

purpura+abdominal-pain+bloody-diarrhea+arthritis

Answer 27

HSP

Henoch-Schönlein purpura (HSP), also called immunoglobulin A vasculitis (IgAV), is the most common systemic vasculitis of childhood.

• self-limited disease and is characterized by a tetrad of clinical manifestations that vary in their occurrence and order of presentation
• Palpable purpura without thrombocytopenia and coagulopathy
• Arthralgia and/or arthritis
• Abdominal pain
• Renal disease

DxMethod: is usually based upon clinical presentation. In patients with an incomplete or unusual presentation, biopsy of the affected organ (eg, skin or kidney) demonstrating predominantly immunoglobulin A (IgA) deposition.

Question 28

Diarrhea.Chronic.Watery

Older person with chronic watery diarrhea (can be severe enough to cause dehydration) with remissions

Answer 28

Microscopic colitis

Question 29

GI-bleeding.Hematochezia-after-aorto-femoral-bypass

Stable patient

BestTest

Answer 29

CT angio with delayed imaging

If unstable: OR

If stable: CT angio

Dx relies on a high index of suspicion. AEF must be kept in mind as a possible etiology of gastrointestinal bleeding in any patient with known AAA or prior aortic intervention, no matter how long ago. The diagnosis may not be easy to make and is often delayed, particularly when the presence of AAA is unknown

primary aortoenteric fistula (PAEF) and secondary aortoenteric fistula (SAEF).

SAEF can develop following virtually any type of surgical aortic reconstruction, but is most commonly due to erosion of a surgically-placed aortic prosthetic graft into the surrounding bowel. SAEFs can also occur after other aortic interventions, including endovascular aneurysm repair. Rarely, SAEF has been reported to occur in the absence of a prosthetic graft. (See ‘Secondary aortoenteric fistula (SAEF)’ above.)

●

•PAEF arises de novo between the aorta and the bowel, most often the result of compression of an abdominal aortic aneurysm (AAA) against the bowel. Mechanical factors and aortic inflammation/infection may have a role in their development. •

Question 30

A previously healthy29-year-old woman presents to the emergency department with jaundice. No prescribed medications. Noalcohol use, drug use, or recent use of over-the-counter medications

ALT = 105 U/L (reference range, 10-40 U/L)

AST = 445 U/L (reference range, 20-48 U/L)

Alkaline phosphatase = 18 U/L (reference range, 50-120 U/L)

Total bilirubin = 15.8 mg/dL (reference range, 0.3-1.2 mg/dL)

Direct bilirubin = 4.2 mg/dL (reference range, 0-0.2 mg/dL)

CT: cirrhotic morphology of the liver and small to moderate ascites.

Answer 30

Acute on chronic Wilson disease

notably low alkaline phosphatase levels (due to copper displacing zinc as a cofactor) and elevated indirect bilirubin, consistent with a hemolytic anemia caused by red cell destruction by copper released by hepatocytes. In addition, an AST to ALT ratio greater than 2.2 and an alkaline phosphatase to total bilirubin ratio less than 4 are highly consistent with acute on chronic Wilson liver disease, specifically in the setting of acute liver failure. These ratios can be used to help make the diagnosis quickly when liver transplant must be pursued immediately and traditional copper-based testing will take too long.

Question 31

Dyspepsia.Alarm-symptoms

Answer 31

1. new-onset dyspepsia after age 45 to 55 years
2. unintended weight loss
3. gastrointestinal bleeding
4. iron deficiency anemia
5. dysphagia,
6. odynophagia
7. persistent vomiting, and/or
8. family history of upper gastrointestinal malignancy in a first-degree relative

Patients with new-onset dyspepsia after age 45 to 55 years (average age 50 years) and/or those with alarm features should undergo initial endoscopy . Alarm features include unintended weight loss, gastrointestinal bleeding or iron deficiency anemia, dysphagia, odynophagia, persistent vomiting, and/or family history of upper gastrointestinal malignancy in a first-degree relative. In patients with early gastric cancer, symptoms of vague mild epigastric pain and early satiety are indistinguishable from those with functional dyspepsia, and the diagnosis cannot be made on the basis of symptom severity alone. Finally, up to one-fourth of patients with malignancy and dyspepsia do not report alarm symptoms.

Question 32

Fever.Rodent-Excreta-transmitted

Answer 32

lymphocytic choriomeningitis and hantavirus infections

The deer tick (Ixodes scapularis) is the vector of Lyme disease, anaplasmosis, and babesiosis, and the dog tick (Dermacentor variabilis) is the vector of Rocky Mountain spotted fever and tularemia in the eastern United States. On the West Coast, I. pacificus transmits Lyme disease. Of these infections, only tularemia commonly causes pneumonia. Approximately 10% of cases of plague (Yersinia pestis) in the United States are reported from California. Infection of humans follows exposure to infected fleas in environments where host rodents can seek food and shelter, such as human dwellings. Consideration of pneumonic tularemia and pneumonic plague is important because of the high mortality in the absence of treatment. Aerosolization of mouse excreta is associated with transmission of lymphocytic choriomeningitis and hantavirus infections. Lymphocytic choriomeningitis is typically transmitted by the house mouse and causes aseptic meningitis. North American hantavirus infection causes the hantavirus pulmonary syndrome, which has been reported in both New York and California. After an incubation period of 2 to 3 weeks, an influenza-like prodrome occurs, followed by the development of noncardiogenic pulmonary edema and, in severe cases, renal failure. Coccidioides immitis, the etiologic agent of valley fever, is a dimorphic fungus that is endemic to the San Joaquin Valley. Infection is caused by inhalation of highly infectious soil-living arthroconidia, with symptoms developing after a mean incubation period of 1 to 3 weeks. In addition to fevers and arthralgias, pulmonary involvement is typical in primary infection, with the severity of manifestations proportional to the burden of inhaled arthroconidia.

Question 33

Fever.Dyspnea

thrombocytopenia, hemoconcentration, and a left shift with atypical lymphocytes.

Answer 33

The most striking abnormalities are the markedly left-shifted granulocytes and thrombocytopenia. The presence of giant platelets suggests peripheral destruction or consumption with thrombopoietin-stimulated marrow reaction. Disseminated intravascular coagulation is unlikely with the normal prothrombin time and fibrinogen level. The elevated partial-thromboplastin time is of uncertain significance but could suggest a preexisting factor deficiency or the presence of a lupus anticoagulant associated with a hypercoagulable state. The hematocrit, at the upper limits of the normal range, could represent mild hemoconcentration; it should be compared with the patient’s baseline level, if available. Thrombocytopenia is commonly seen with rickettsial infections and anaplasmosis. Hantavirus infection is also associated with thrombocytopenia, hemoconcentration, and a left shift with atypical lymphocytes.

Question 34

Influenza-like-illness: ARDS+thrombocytopenia

hematologic findings of thrombocytopenia, a left-shifted granulocyte series without toxic granulations, atypical lymphocytosis, and hemoconcentration. Lymphoblasts, also described in this syndrome, were not seen.

Answer 34

Hantavirus pulmonary syndrome

The presence of four of these five characteristic hematologic abnormalities was reported to have 98% diagnostic sensitivity for the hantavirus pulmonary syndrome among patients in whom the disease was suspected on clinical grounds by experienced clinicians working in an endemic region.12 Other laboratory abnormalities characteristic of the hantavirus pulmonary syndrome were also present in this patient, including elevations in aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase levels. Hypoalbuminemia and a low total protein level were not present but are common in severe cases.3,12

Question 35

Hypoxia, cyanosis,

low pulse oximetry reading, but a normal arterial blood gas Pao2

Answer 35

Methemoglobinemia

methemoglobin (ie, hemoglobin with its iron in the oxidized [Fe+++] state) is suspected when there is clinical cyanosis in the presence of normal arterial pO2.

•The blood in methemoglobinemia has been variously described as dark red, chocolate, or brownish to blue in color, which, if noted during a procedure associated with the use of a topical anesthetic agent, is a valuable clue for making this diagnosis in a timely manner.

●Confirming the diagnosis

•The standard method of assaying methemoglobin utilizes a microprocessor-controlled, fixed wavelength co-oximeter. False positives may occur in the presence of other pigments, including sulfhemoglobin and methylene blue (MB). (See ‘Diagnostic testing’ above.)

•

Question 36

Pneumonia.Chronic

+ single round opacity

From Indiana

Answer 36

Blastomycosis

Question 38

headache (most common), malaise, nausea, and dizzines

Meta: NonspecificPresentation, HardToDx, HighRisk

Answer 38

CO poisoning

cooximetry

Carbon monoxide (CO) poisoning is common, potentially fatal, and probably underdiagnosed because of its nonspecific clinical presentation.

quantification by cooximetry of a blood gas sample; standard pulse oximetry (SpO2) is unable to distinguish between oxyhemoglobin and COHb. Blood PO2 measurements tend to be normal because PO2 reflects O2 dissolved in blood, and this process is not affected by CO

Question 39

Anemia: mild anemia + infrequent pain crises + splenomegaly

Answer 39

Hemoglobin SC disease

Hb SC disease is not as severe as Hb SS disease but more so that sickle trait.

Hemoglobin C — HbC, a beta globin chain mutation, is less soluble than HbA, forming hexagonal crystals (picture 2) rather than the long polymers seen in sickle cell disease (picture 3) [27]. More importantly, HbC, either in the homozygous state (HbCC) or in heterozygous states (HbSC, HbAC) induces red cell dehydration, resulting in red cells with an increased mean corpuscular hemoglobin concentration (MCHC) [17,28,29]. (See “Stomatocytosis and xerocytosis”, section on ‘Hemoglobin C disease’.)

Question 40

Bleeding disorder: young adult with recurrent bleeding + PTT which corrects after mixing + normal Factor IX

Answer 40

von Willebrand’s

1. VWF factor decrease
2. Autosomal dominant
3. Only 1% of affected are symptomatic
4. hree tests are recommended as initial screening tests for VWD (table 2):

●Plasma von Willebrand factor (VWF) antigen (VWF:Ag)

●Plasma VWF activity (ristocetin cofactor activity, VWF:RCo and VWF collagen binding VWF:CB)

●Factor VIII activity (FVIII

INTRODUCTION — Von Willebrand disease (VWD) is the most common inherited bleeding disorder, affecting up to 1 percent of the population as assessed by random laboratory screening, although only approximately 1 percent of these individuals are appreciably symptomatic [1]. It is characterized by mutations that lead to a decrease in the level or impairment in the action of von Willebrand factor (VWF) (table 1). Most cases are transmitted as an autosomal dominant trait that affects males and females equally [2]. There are also acquired forms of VWD that are caused by several different pathophysiologic mechanisms. (See “Classification and pathophysiology of von Willebrand disease” and “Biology and normal function of von Willebrand factor”.)

Question 41

Hemophilia B

Answer 41

Factor IX deficiency

Question 42

Leukocytosis: >100K + differential which encompasses all myeloid lines

Answer 42

CML

Question 43

Fatigue: Early satiety +

Systemic complaints (fatigue, malaise, sweating, weight loss).

●Early satiety

●Tenderness over the lower sternum

●Varying degrees of hepatosplenomegaly

● High WBC + increased numbers of immature cells of the granulocytic series with a “myelocyte bulge” associated with mild anemia, thrombocytosis, and basophilia

Answer 43

CML

Although the diagnosis can be made fairly accurately by morphologic features in the blood and marrow, the “gold standard” for the diagnosis of CML is either the demonstration of the Philadelphia chromosome or the underlying t(9;22) translocation by conventional cytogenetic techniques (figure 1), or the demonstration of the BCR-ABL1 fusion gene or mRNA fusion product (figure 2) by fluorescence in situ hybridization (FISH) analysis, or reverse transcription polymerase chain reaction (RT-PCR).

Question 44

Bleeding: most likely cause of new bleeding disorder in post-partum woman

Answer 44

Acquired factor VIII inhibitor

Question 45

chronic cough, bronchiectasis, chronic rhinosinusitis, and recurrent otitis medi+situs inversus

Answer 45

CKD

Primary ciliary dyskinesia (PCD), also called the immotile-cilia syndrome, includes patients with a spectrum of ciliary abnormalities, including ciliary akinesia, dyskinesia, and aplasia. It is characterized by chronic cough, bronchiectasis, chronic rhinosinusitis, and recurrent otitis media (image 1).

●The inheritance pattern of PCD is autosomal recessive. A number of different PCD causing mutations have been described, including mutations in the axonemal outer dynein arms (DNAH5, DNAH9, DNAH12, DNAI1), inner dynein arms (DNALI1), assembly proteins (DNAAF3), and radial spokes (RSPH4A, RSPH9). Situs inversus is present in about 50 percent of individuals with PCD. (See ‘Genetics’ above and ‘Clinical manifestations’ above.)

●A combination of tests is necessary for accurate diagnosis of PCD. Measuring the production of nasal nitric oxide (nNO) is a useful method to screen patients with a clinical suspicion of PCD. Measuring mucociliary clearance with inhalation of colloid albumin tagged with 99Tc is an alternative screening test of ciliary function, but is not standardized. The saccharin clearance time is not a reliable screening test for PCD. Semen analysis is an option in adult males. At present, none of these is diagnostic, so a confirmatory test is necessary. (See ‘Diagnostic evaluation’ above.)

●Definitive diagnosis is based on transmission electron microscopic (TEM) visualization of specific defects, such as absence of dynein arms or radial spokes and absent, or additional, microtubule assemblies. High speed videomicroscopy analysis (HSVA) in conjunction with beat frequency measurement can determine whether cilia have normal coordination, beat frequency, and beat pattern. These tests require nasal or bronchial biopsy and are only available at specialized centers. (See ‘Diagnostic evaluation’ above.)

Question 46

Multi-system: lungs, pancreas, biliary tract, infertility

Answer 46

Cystic fibrosis

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Deranged chloride transport leads to thick, viscous secretions in the lungs, pancreas, liver, intestine, and reproductive tract. The typical CF patient presents with multisystem disease involving several or all of these organs (table 1). (See ‘Overview of clinical features’ above.)

Question 47

1. Over age four :
2. Significantly low IgG
3. Low IgA and/or low IgM
4. Poor or absent response to immunization
5. The absence of any other defined immunodeficiency state

Answer 47

CVID

Meta: DxOfExclusion

(ie, CVID is a diagnosis of exclusion)

Common variable immunodeficiency (CVID) is the most common form of severe antibody deficiency affecting both children and adults. The characteristic immune defect in CVID is impaired B cell differentiation with defective production of immunoglobulin. CVID is defined by low total serum concentrations of immunoglobulin G (IgG), as well as low immunoglobulin A (IgA) and/or immunoglobulin M (IgM), poor or absent response to immunization, and the absence of any other defined immunodeficiency state. (See ‘Introduction’ above and ‘Definition’ above.)

Question 48

Multisystem:

1. early onset emphysema
2. Cirrhosis
3. Rare: panniculitis

Answer 48

alpha-1 antitrypsin deficiency

PFT: COPD.

All adults with persistent airflow obstruction on spirometry should be tested for alpha-1 antitrypsin (AAT) deficiency, especially those from geographic areas with a high prevalence of AAT deficiency [63]. Additional features that should lead clinicians to test for AAT deficiency include (table 3) [3]:

●Emphysema in a young individual (eg, age ≤45 years)

●Emphysema in a nonsmoker or minimal smoker

●Emphysema characterized by predominant basilar changes on the chest radiograph

●A family history of emphysema and/or liver disease

●Clinical findings or history of panniculitis

●Clinical findings or history of unexplained chronic liver disease

The diagnosis of severe AAT deficiency is confirmed by demonstrating a serum level below 11 micromol/L (approximately 57 mg/dL by nephelometry) in combination with a severe deficient phenotype, generally determined by isoelectric focusing, or genotype, assessed by testing for the most common deficient alleles (ie, S, Z, I, F). If the AAT serum level is greater than 20 micromol/L (80 mg/dL), it is unlikely that the patient has clinically important AAT deficiency [16]. On the other hand, if one is evaluating for the presence of particular mutations, genotyping is necessary to identify heterozygotes and mutations that have incomplete penetrance

Question 49

Cough + dyspnea: subacute: diffuse crackles

CT: mid-to-upper zone predominance of centrilobular ground-glass or nodular opacities with signs of air-trapping

Answer 49

HP

Prompt diagnosis of hypersensitivity pneumonitis (HP) is important, as the disease is reversible when diagnosed early in its course. Correct diagnosis is based upon exposure history, clinical assessment, radiographic and physiologic findings, and, if possible, the response to avoidance of the suspected etiologic agent.

●The key diagnostic criteria are: known exposure to offending antigen(s); compatible clinical, radiographic, or physiologic findings; bronchoalveolar lavage with lymphocytosis; positive inhalation challenge testing; and histopathology showing poorly formed, noncaseating granulomas OR a mononuclear cell infiltrate. Not all of these features are present in all patients. (See ‘Diagnostic criteria’ above.)

●Most laboratory panels for measurement of serum precipitins have a high false negative rate. Testing of a patient’s serum against likely causative antigens from the original environmental source may be more helpful. Skin tests are not helpful in the diagnosis of HP. (See ‘Serum precipitins’ above.)

●The characteristic high resolution computed tomography (HRCT) scan appearance is a mid-to-upper zone predominance of centrilobular ground-glass or nodular opacities with signs of air-trapping. (See ‘High resolution CT scan’ above.)

●Bronchoalveolar lavage (BAL) may be helpful in supporting the diagnosis of hypersensitivity pneumonitis. A marked BAL lymphocytosis (greater than 20 percent and often exceeding 50 percent) may be seen. The BAL CD4+/CD8+ ratio is usually decreased to less than 1.0 and the typical lymphocyte phenotype in BAL is CD3+/CD8+/CD56+/CD57+/CD10-. (See ‘Bronchoalveolar lavage’ above.)

●The histopathologic findings on transbronchial biopsy in HP usually include: poorly formed granulomata located near respiratory or terminal bronchioles and a patchy mononuclear cell infiltration of the alveolar walls. The findings may be subtle and the pathologist should be alerted to look specifically for this diagnosis. In chronic HP, the lung pathology may more closely resemble usual interstitial pneumonitis (UIP). (See ‘Lung biopsy’ above.)

●Several diseases may mimic HP; in particular, inhalation “metal fume” fever, organic dust toxic syndrome, chronic bronchitis, asthma, and airway-centered interstitial fibrosis should be considered in the differential diagnosis. (See ‘Mimics of HP’ above.)

Question 50

Non-resolving pneumonia + diffuse, symmetrical arthralgias, and the rash of either erythema nodosum or erythema multiforme+ southwestern US

Answer 50

Coccidio

1. Dimorphic fungi of the genus Coccidioides (Coccidioides immitis and Coccidioides posadasii).
2. Lower deserts of the western hemisphere including southern Arizona, the southern and central valleys of California, southwestern New Mexico, and west Texas in the United States. They are also found in parts of Mexico and Central and South America.
3. llness is often subclinical.
4. Typical presentation: community-acquired pneumonia approximately 7 to 21 days after exposure. In addition, some patients can experience constitutional symptoms (eg, fever, drenching night sweats, and weight loss, lasting weeks to months), as well as dermatologic and/or rheumatologic manifestations.
5. Consider Dx in: endemic exposure and a respiratory illness of more than a week’s duration, especially if (ie, community-acquired pneumonia).
6. Primary coccidioidal infection should also be suspected in patients with endemic exposure who present with the new onset of diffuse, symmetrical arthralgias, and the rash of either erythema nodosum or erythema multiforme. (See ‘When to suspect infection’ above.)
7. ●Diagnosis usually relies upon serologic testing. However, isolation of Coccidioides species in culture definitively establishes the diagnosis. Direct examination of the smear with potassium hydroxide (KOH) preparation or calcofluor white staining is also helpful.

Question 51

Cough + rash + south western US + hypoxemia + multifocal infiltrates + pulmonary eosinophilia

Answer 51

Coccidio; Rx: fluconazole 6 months

Case 35-2010: A 56-Year-Old Man with Cough, Hypoxemia, and Rash William A. Kormos, M.D., Carol C. Wu, M.D., John A. Branda, M.D., and Adriano Piris, M.D.

http://www.nejm.org/doi/pdf/10.1056/NEJMcpc1003888?ssource=kplus

1. Infectious: Bacterial pneumonia Pneumocystis jiroveci pneumonia Fungi Endemic mycoses Aspergillosis Tuberculosis Parasites Simple eosinophilic pneumonia (caused by ascaris, strongyloides, paragonimus, or trichinella) Tropical eosinophilic pneumonia (e.g., filariasis)
2. Neoplastic: Lymphoma Bronchoalveolar-cell carcinoma
3. Inflammatory or allergic Drug reactions: Acute eosinophilic pneumonia Chronic eosinophilic pneumonia Churg–Strauss syndrome Bronchiolitis obliterans with organizing pneumonia Sarcoidosis Allergic bronchopulmonary aspergillosis

Question 52

Multisystem: recurrent epistaxis from childhood+Stroke+hemoptysis+cerebral abscess

Answer 52

HHT

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with a prevalence of 1:5000 to 1:8000. Many individuals with HHT are unaware of their disease. Although HHT is hereditary, clinical manifestations are not generally present at birth, but develop with increasing age. Epistaxis is usually the earliest sign of disease, often occurring in childhood; pulmonary arteriovenous malformations (PAVMs) generally become symptomatic after puberty. (See ‘Disease overview’ above.)

●Patients with HHT may be asymptomatic or have a wide spectrum of clinical manifestations ranging from minimal to life-threatening. The most common clinical findings are epistaxis and iron deficiency anemia from bleeding. Visceral arteriovenous malformations (AVMs) of the liver, lung, and central nervous system are common, while usually asymptomatic, complications include high output heart failure, portal hypertension, liver failure, hemoptysis, polycythemia, cerebral abscess, and stroke. (See ‘Clinical features’ above.)

●International consensus diagnostic criteria for HHT are based upon the following four criteria:

• Spontaneous and recurrent nosebleeds
• Multiple mucocutaneous telangiectasia at characteristic sites
• Visceral involvement (eg, gastrointestinal, pulmonary, cerebral, or hepatic AVMs)
• A first degree relative with HHT

Question 53

Fevers + rigors; recently started on clozapine

Answer 53

agranulocytosis

Question 54

Multisystem: fevers + purpura + psychosis

onset: acute

Answer 54

cocaine + levamisole

Question 55

Anxiety: enquiry

Meta: technique

Answer 55

Can you tell me more about what is on your mind?

Question 56

Psychosis: acute: when not to give haloperidol?

Answer 56

Cocaine and LSD

LSD Rx: IVF

Question 57

HCC: suspected: BestTest

Answer 57

MRI

Not AFP

Question 58

Von Hippel-Landau: suspected: FirstTest

Answer 58

CT abdomen, pelvis

Question 59

Sclerotic, moth-eaten + onion-skin periosteal reaction

Answer 59

Ewings

Question 60

HHV8 +ve + immunosuppression: which tumor?

Answer 60

Kaposis

Question 61

Patients at very high risk for breast cancer: why both MRI and mammograph every year?

Answer 61

MRI is more sensitive in general but mammography is more sensitive for DCIS

Question 62

Seminoma tumor marker

Answer 62

HCG

Question 63

Periventricular tumor: FirstTest

Answer 63

LP

Question 64

ACTH associated paraneoplastic syndrome: FirstTest

Answer 64

Overnight dexamethasone or 24 hour urinary cortisol

Question 65

Hematuria; no proteinuria; bilat LE swelling to hips

Onset: insidious over 2 months

Answer 65

RCC

LE swelling is due to IVC obstruction

Question 66

STEMI: fibrinolysis done; persistent chest pain + cardiogenic shock: Mx

Answer 66

Transfer to PCI center

Question 67

Cardiogenic shock: Drug Rx

Answer 67

Milrinone

Question 68

Multisystem: PE + MI + AKI

Answer 68

Antiphospholipid syndrome

Question 69

Pulmonary cath:

Normal PCWP

↑ RAP

Answer 69

Pulmonary hypertension

Question 70

Acute MR: why is the murmur soft and short?

Answer 70

Rapid rise in left atrial pressure

The murmur of acute MR may be early systolic, midsystolic, or holosystolic. However, since the pressure within the left atrium markedly increases during ventricular systole and the pressure gradient between the left atrium and ventricle diminishes or disappears by the end of systole, the systolic murmur is often soft, low-pitched, and decrescendo, often ending well before A2. (See “Auscultation of cardiac murmurs in adults” and “Auscultation of heart sounds”.)

When present, the murmur is often best heard along the left sternal border and base of the heart, generally without a thrill, and may radiate to the back. It can be confused with an acute ventricular septal defect which, like acute MR, is a complication of an acute myocardial infarction.

An S3 filling sound is commonly heard but may be difficult to appreciate if tachycardia is present. With the development of pulmonary hypertension, P2 is increased in intensity and the murmurs of pulmonary and tricuspid regurgitation may be appreciated. (See “Auscultation of heart sounds”.)

Question 71

Split S2 excludes AS: why

Answer 71

Presence of the S2 split is reliable in excluding AS because the A2 and P2 components become simultaneous as the stenosis worsens; so their presence, audible as a split, tells you that AS is not present.

Question 72

Post-cardiac injury syndrome: Rx

Answer 72

NSAIDs usually + colchicine,

Question 73

tachypnea, unilateral pleuritic chest pain and diminished breath sounds, distended neck veins, tracheal deviation away from the affected side, and risk factors:

trauma, recent procedure, mechanical ventilation, underlying cystic lung disease

Answer 73

Tension pneumothorax

Question 74

Direction of mediastinal shift in tension pneumothorax

Answer 74

increased intrathoracic pressure causes the mediastinum to shift away from the side of the pneumothorax

A tension pneumothorax is caused when air enters the pleural space during inspiration but cannot be exited through the same pathway, similar to a one-way valve. This results in air accumulation within the pleural space, generating an intrapleural pressure that is substantially higher than the atmospheric pressure [30]. The inward elastic recoil of the pulmonary parenchyma causes the involved lung to collapse, while increased intrathoracic pressure causes the mediastinum to shift away from the side of the pneumothorax (figure 3). Tension pneumothorax is often associated with hypoxemia due to lung collapse, an increased work of breathing due to restrictive lung disease, and in some cases, hemodynamic changes with reduced venous return to the heart

Question 75

Male patient with known bicuspid aortic valve presents with:

↑ BP in the arms

Diminished femoral pulses

↓ BP in the lower extremities

ECG: LVH

CXR: Notching on ribs 3–9

What is the diagnosis?

Answer 75

Coarctation

Surgery and balloon angioplasty

are both reasonable options to correct discrete coarctation and should be performed in early childhood for optimal results and survival. In our centers, the following approach for repair of discrete aortic coarctation is based on the age of the patient and the morphology of the unde

Question 76

STEMI followed after a few days by persistent or recurrent chest pain, particularly pericardial pain, nausea, restlessness and agitation, abrupt, transient hypotension, and/or electrocardiographic features of localized or regional pericarditis.

Answer 76

Incomplete/subacute rupture

Echocardiographic and hemodynamic indices of cardiac tamponade were present in 85 percent of patients in one series. The diagnosis of incomplete/subacute rupture is confirmed by transthoracic echocardiography.

Question 77

Raynaud’s, claudication, and migratory superficial thrombophlebitis.

Answer 77

Buerger

Thromboangiitis obliterans is a vasculitis that affects medium and small arteries, veins and nerves in the extremities, with rare involvement of visceral and cerebral vessels. Predominantly young smokers who present with distal extremity ischemia, ischemic digit ulcers, or digit gangrene.

●The disease is characterized by segmental inflammatory thrombotic vessel occlusions. It is distinguished pathologically from other forms of vasculitis by a highly cellular, inflammatory intraluminal thrombus with relative sparing of the vessel wall and, more specifically, sparing of the internal elastic lamina.

Surgical revascularization is usually not indicated due to the distal nature of occlusive disease and because most patients do well with smoking cessation. By

Question 78

Septal rupture versus papillary muscle rupture

Answer 78

Septal rupture: harsh, holosystolic murmur at LLSB; biventricular failure

Question 79

Patient presents confused, agitated, and hypotensive with the following hemodynamics:

↓ CO

↑ PCWP

↑ RAP

↓ Cardiac index

What is the diagnosis based on the PA readings?

Question 80

Erythromelalgia seen in

Answer 80

PCV, ET

(painful red digits) is also

Question 81

Patient with HIV/AIDS and low CD4 count presents with:

Fatigue, malaise, ± fever, and pallor on exam

↓ Hgb and Hct, normal MCV and MCHC

↓ Reticulocyte count

Normal serum Fe and ferritin

Normal WBC, Plt, indirect bilirubin, haptoglobin, and LDH

Marrow aspirate: scattered giant pronormoblast

Answer 81

Diagnosis is pure red cell aplasia caused by chronic parvovirus B19 infection.

Explanation

Question 82

Patient is hospitalized and given prolonged cefotetan for an infection then develops:

Epistaxis and large ecchymoses at injection sites

Normal CBC

Peripheral smear: No abnormalities

Prolonged PT but normal PTT

What is the cause of the coagulopathy?

Answer 82

Vitamin K antagonism

The cause of the coagulopathy is antagonism of vitamin K by the N-methylthiotetrazole (NMTT) side chain on the cefotetan antibiotic.

Explanation

Remember the common cephalosporins that are associated with antagonism of vitamin K: cefoperazone, and cefotetan. These can result in clinical bleeding.
Dx: Clinical + PT (prolonged) + platelets (normal).
Tx: Support and discontinuation of antibiotic + vitamin K replacement.

Question 83

Fatigue

Recurrent abdominal pain

Voluminous stools

Pruritic, vesicular rash on the extremities and thorax

↓ Hgb and Hct, ↓ MCV and MCHC

↓ Reticulocyte count

↓ Serum Fe, ↑ TIBC, Fe/TIBC < 20%, ↓ ferritin, ↑ soluble transferrin receptor concentration

What is the diagnosis? What is the name of the rash?

Answer 83

celiac disease. The rash is dermatitis herpetiformis.

BestTest: . Immunoglobulin A (IgA) anti-tissue transglutaminase (TTG) antibody is the single preferred test for detection

Celiac disease is a common cause of chronic, unresponsive iron deficiency anemia.

Associations: autoimmune hypothyroidism, osteoporosis and osteopenia, Type 1 diabetes, selective IgA deficiency, and a nonspecific increase in liver transaminases.
Dx: Clinical + serum antiendomysial antibody ± IgA antitissue transglutaminase antibody ± duodenal biopsy when +antibody (all performed while on gluten-rich diet).
Tx: Gluten-free diet.

Question 84

MGUS vs multiple myeloma

Answer 84

MGUS has a lower concentration of M protein (< 3 g/dL) and does not have associated anemia, hypercalcemia, kidney injury, or lytic bone lesions on a skeletal survey

MGUS looks like myeloma on a serum or urine protein electrophoresis, but MGUS has a lower concentration of M protein (< 3 g/dL) and does not have associated anemia, hypercalcemia, kidney injury, or lytic bone lesions on a skeletal survey. If a marrow biopsy is done, MGUS has < 10% plasma cells.
Dx: Monoclonal gammopathy + < 10% infiltration of marrow with clonal plasma cells.
Tx: Observation.

Question 85

Middle aged man with urinary hesitancy, normal exam; normal UA,

Answer 85

BPH

Ixn: quality of life or causes outlet obstruction

Rx: Alpha-antagonists (terazosin, doxazosin, tamsulosin, alfuzosin, silodosin) and 5-alpha-reductase inhi

Question 86

Onset: acute

The features of acute _ toxicity include bradycardia, miosis, lacrimation, salivation, bronchorrhea, bronchospasm, urination, emesis, and diarrhea.

Answer 86

Organophosphate poisoning

Rx: Atropine; ventilation. pralidoxime

1. Atropine: any degree of possible cholinergic toxicity from OP or carbamate poisoning.
2. 2 to 5 mg IV for adults and 0.05 mg/kg IV for children. If no effect is noted, the dose is doubled every three to five minutes until pulmonary muscarinic signs and symptoms are alleviated.
3. pralidoxime be given to all with neuromuscular dysfunction, or exposures to agents known to cause delayed neurotoxicity

Question 87

Opiates: pupils

Intoxication: _

Withdrawal: _

Answer 87

Intoxication: pinpoint pupils

Withdrawal: dilated

Question 88

Dysphoria and restlessness

Rhinorrhea and lacrimation

Myalgias and arthralgias

Onset: acute

Answer 88

Opiate withdrawal

Question 89

Methadone: dose for acute withdrawal

Answer 89

10 mg IM

Twenty mg of orally administered methadone or 10 mg of intramuscular methadone are usually sufficient to relieve withdrawal symptoms without producing opioid intoxication. We recommend the intramuscular route, since the nauseated withdrawing patient may vomit after an oral dose. Decades of clinical experience have validated the use of methadone in the management of opioid withdrawal.

We recommend against routine administration of a full daily methadone maintenance dose to an unfamiliar patient who has missed a single dose. Some patients intentionally take reduced doses in order to save a portion, so their prescribed dose may be sold or abused.

Question 90

Alzheimer vs MCI and vascular dementia

Answer 90

1. Alzheimer: slow progress, no focal neurodeficit
2. MCI: preserved independence
3. Vascular: prominent executive dysfunction causing significant disability; memory impairment is mild.
4. LBD and frontotemporal: hallucinations, personality change

The presentation of cognitive impairment in VaD may be quite distinct from Alzheimer disease (AD), especially early in the disease course, with prominent deficits in executive dysfunction causing significant disability, even while memory impairment is quite mild and before the patient reaches criteria for dementia. (See ‘Clinical features’ above.)

●Neuropsychological testing can be helpful to better profile the nature and severity of the cognitive deficits and chart disease course in VaD. (See ‘Neuropsychological testing’ above.)

●There is considerable overlap between AD and VaD with regard to comorbidity as well as shared risk factors and even pathogenesis. The combination of pathologies may be more common than either in isolation. (See ‘Mixed dementia’ above.)

●

Question 91

Major dementias:

Answer 91

1. Alzheimer disease
2. Dementia with Lewy bodies (DLB)
3. Frontotemporal dementia (FTD)
4. Vascular (multi-infarct) dementia (VaD)
5. Parkinson disease with dementia (PDD)

Question 92

Minor symptoms of _ poisoning include metabolic abnormalities (eg, hypokalemia, hyperglycemia, metabolic acidosis), coarse muscle tremor, vomiting, and abdominal pain. Seizures, hypotension, and arrhythmias are the life-threatening symptoms seen following intoxication. Death typically results from intractable ventricular arrhythmias.

Answer 92

Minor symptoms of theophylline poisoning include metabolic abnormalities (eg, hypokalemia, hyperglycemia, metabolic acidosis), coarse muscle tremor, vomiting, and abdominal pain. Seizures, hypotension, and arrhythmias are the life-threatening symptoms seen following intoxication. Death typically results from intractable ventricular arrhythmias.

Question 93

increasing number of floaters in one eye. Flashes of light (photopsias) are also common during

Answer 93

Retinal detachment

Question 94

Urge incontinence: Women: Rx

Answer 94

1. Exercise
2. Antimuscarinic:s: darifenacin, fesoterodine, oxybutynin, solifenacin, tolterodine, and trospium
3. mirabegron

Question 95

Anterior uveitis vs iritis

Answer 95

Synonymous

Question 96

Multisystem: uveitis + Achilles tendinopathy

Answer 96

Spondyloarthritis – Spondyloarthritides, such as ankylosing spondylitis and reactive arthritis, are the most common systemic immune disorders associated with uveitis in No?

Question 97

Serotonin syndrome vs NMS

Answer 97

1. NMS: rigidity, SS: clonus
2. SS: hyperreflexia

Question 98

Vertigo: tinnitus

hearing loss, episodic vertigo, and tinnitus

Meta: onset differentiates

Answer 98

Meniere disease

1. Vestibular neuritis: acute onset of vertigo with nausea, vomiting, and gait impairment.
2. Vestibular neuritis: Single episode, acute onset, lasts days
3. Meniere: Recurrent episodes, last minutes to several hours

have endolymphatic hydrops in the labyrinthine system

Meniere disease is a chronic condition; patients should be given reasonable expectations of treatment, which include symptom relief but not cure.

Question 99

INR increasing drugs

Answer 99

sulfamethoxazole, amoxicillin, macrolide antibiotics, fluconazole, metronidazole,

Question 100

malnourished, agitated, and disheveled [17]. Hypervigilance and akathisia may be present in mildly intoxicated patients, while patients with severe acute intoxication may exhibit abrupt changes in behavior, becoming extraordinarily violent. Change in sleeping patterns, severe mood swings and unpredictable behavior are common. Excoriations on the skin and “track marks” (linear eschars over a vein) suggest prolonged and intravenous use, respectively. Profound diaphoresis is common in moderate to severe acute intoxication. Look carefully for stigmata of trauma

Answer 100

Methamphetamine intoxication

Question 101

Methamphetamine vs cocaine vs PCP

Meta: onset discriminates

Answer 101

Cocaine: 30 minutes, PCP: 8 hours, Meth: 20 hours

The prolonged duration of action of methamphetamine (approximately 20 hours) helps differentiate it from cocaine (duration of action 30 minutes) and PCP. The duration of action for PCP is less than 8 hours and patients more often manifest nystagmus and rapid, involuntary eye movements. Distinguishing methamphetamine from agents such as synthetic cathinones or other phenethylamines in real time may not be possible, as their pharmacokinetics may be unknown and they may produce false positive results on qualitative screens for amphetamines. The clinically distinct features of theophylline intoxication (tachycardia, unremitting vomiting, and widened pulse pressure) are confirmed by measurement of the serum theophylline concentration. Aspirin intoxication produces tinnitus and hyperpnea even in resting patients, as well as metabolic acidosis, hyperthermia, and elevated serum aspirin concentrations.

Question 102

Pruritus: groin

Answer 102

pediculosis pubis

Rx: permethrin

Question 103

Herald patch

Answer 103

ityriasis rosea is an acute, self-limited, exanthematous skin disease felt most likely to be due to a viral etiology

Medium potency steroid