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MSRA 2025 > Heamatology , Genetics , Infectious Diseases > Flashcards

Heamatology , Genetics , Infectious Diseases Flashcards

1
Q

What is the IM dose of adrenaline for an adult in anaphylaxis

A

: 500 micrograms (0.5 mL of 1:1000 solution).
• Repeat every 5 minutes if no improvement.

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2
Q

What is the IM dose of adrenaline for children in anaphylaxis?

A

<6 years: 150 micrograms (0.15 mL).
6–12 years: 300 micrograms (0.3 mL).
>12 years: 500 micrograms (0.5 mL).

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3
Q

Why is adrenaline given IM for anaphylaxis instead of IV?

A

IM has a lower risk of complications.
IV adrenaline is only for specialists in critical care settings.

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4
Q

What is the classic diagnostic triad of multiple myeloma?

A

Bone marrow: Clonal plasma cells >10%.
CRAB criteria:
Calcium ↑ (hypercalcemia).
Renal impairment.
Anemia.
Bone lesions (lytic lesions, fractures).
Presence of a monoclonal protein (e.g., M protein) in serum/urine.

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5
Q

What tests confirm the diagnosis of multiple myeloma?

A

Serum/urine protein electrophoresis → Monoclonal (M) protein.
Bone marrow biopsy → >10% clonal plasma cells.
Imaging (X-ray, MRI, or CT) → Lytic bone lesions.

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6
Q

What are the key features of iron-deficiency anemia?

A

Labs: Microcytic, hypochromic anemia, ↓ serum ferritin, ↑ TIBC.
Causes: Blood loss (e.g., GI, menstruation), poor diet.
Treatment: Oral ferrous sulfate.

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7
Q

What is the main finding in pernicious anemia?

A

Vitamin B12 deficiency due to autoimmune destruction of gastric parietal cells → ↓ intrinsic factor.
Macrocytic anemia, neurological symptoms, and glossitis.

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8
Q

What anemia is associated with chronic disease?

A

Labs: Normocytic or microcytic anemia, ↓ iron, ↓ TIBC, ↑ ferritin.
Pathophysiology: Inflammatory cytokines (e.g., IL-6) trap iron in macrophages and suppress erythropoiesis.

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9
Q

What are examples of X-linked dominant conditions?

A

V F A R H
Vit D difficient rickets
Fragile X syndrome
Alport’s syndrome
Rett syndrome.
X-linked hypophosphatemia.

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10
Q

What are examples of X-linked recessive conditions?

A

Duchenne muscular dystrophy.
Hemophilia A/B.
Red-green color blindness.
G6PD deficiency.

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11
Q

How do males and females differ in X-linked inheritance patterns?

A

Recessive: Males more affected; females are carriers.
Dominant: Both sexes affected, but males often more severe.

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12
Q

What is the causative agent of typhoid fever?

A

Salmonella typhi (gram-negative bacillus).

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13
Q

What are the key clinical features of typhoid fever?

A

Stepwise fever.
Abdominal pain, constipation/diarrhea.
Rose spots (pink macules on trunk).
Hepatosplenomegaly.

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14
Q

How is typhoid fever treated?

A

First-line antibiotics: Azithromycin or ceftriaxone.
Supportive care: Hydration and antipyretics.

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15
Q

What are key features of Edwards syndrome (trisomy 18)?

A

Clinical: Micrognathia, clenched fists, rocker-bottom feet, cardiac defects.
Poor prognosis (often fatal in infancy).

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16
Q

What are key features of Patau syndrome (trisomy 13)?

A

Clinical: Midline defects (holoprosencephaly, cleft lip/palate), polydactyly, cardiac defects.
Poor prognosis (often fatal in infancy).

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17
Q

What are key features of Turner syndrome (45, X)?

A

Clinical: Short stature, webbed neck, shield chest, streak ovaries (infertility), coarctation of the aorta.
Labs: ↓ estrogen, ↑ LH/FSH.

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18
Q

What are key features of Klinefelter syndrome (47, XXY)?

A

Clinical: Tall stature, gynecomastia, small testes (infertility).
Labs: ↓ testosterone, ↑ LH/FSH.

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19
Q

What is the most likely diagnosis for a 23-year-old man with small bowel obstruction and mucocutaneous melanocytic macules?

A

Peutz-Jeghers syndrome (PJS)

PJS is an autosomal dominant disorder characterized by pigmented lesions in the buccal mucosa and gastrointestinal polyps.

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20
Q

What type of genetic inheritance is Peutz-Jeghers syndrome?

A

Autosomal dominant

The mutation associated with PJS is found on chromosome 19.

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21
Q

What are the characteristic mucocutaneous features of Peutz-Jeghers syndrome?

A

Pigmented lesions in the buccal mucosa

These lesions are often referred to as mucocutaneous melanocytic macules.

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22
Q

What type of intestinal lesions are associated with Peutz-Jeghers syndrome?

A

Hamartomas

Although classified as hamartomas, patients with PJS have an increased cancer risk.

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23
Q

What is the increased risk of developing intestinal cancer for patients with Peutz-Jeghers syndrome compared to the general population?

A

15 times

This significant risk underscores the importance of monitoring patients with PJS.

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24
Q

What is the average age of first diagnosis for Peutz-Jeghers syndrome?

A

23 years old

This age often correlates with the first presentation of bowel obstruction.

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25
Q

What is a common initial presentation of Peutz-Jeghers syndrome?

A

Bowel obstruction from intussusception

Other presentations may include abdominal pain, haematochezia, or prolapse of a colonic polyp.

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26
Q

Fill in the blank: Peutz-Jeghers syndrome is characterized by gastrointestinal polyps and ____________.

A

pigmented lesions in the buccal mucosa

These pigmented lesions often appear on the lips.

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27
Q

True or False: Peutz-Jeghers syndrome can lead to an increased risk of cancer.

A

True

Patients with PJS have a significantly higher risk of developing intestinal cancer.

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28
Q

What is the inheritance pattern of hemophilia?

A

X-linked recessive inheritance pattern

Hemophilia is usually inherited and occurs almost exclusively in males.

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29
Q

What is the average age of first diagnosis for hemophilia?

A

23 years old

The first presentation is often at a young age.

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30
Q

What is the condition characterized by multiple polyps in the gastrointestinal tract?

A

Familial adenomatous polyposis (FAP)

FAP is an autosomal dominant condition that can lead to colon cancer if untreated.

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31
Q

What is the adenomatous polyposis gene associated with colorectal cancer?

A

APC gene

Mutations in the APC gene are involved in the development of familial adenomatous polyposis.

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32
Q

True or False: Non-neoplastic polyps are benign.

A

True

Non-neoplastic polyps, such as hamartomatous polyps, are self-limiting and benign.

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33
Q

What is the most common clinical presentation of cytomegalovirus (CMV) disease?

A

Retinitis

Other manifestations may include colitis and encephalitis.

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34
Q

What are common opportunistic infections in people living with HIV (PLWH)?

A
  • Tuberculosis (TB)
  • Mycobacterium avium complex (MAC)
  • Pneumocystis pneumonia (PCP)
  • Toxoplasmosis
  • Cryptococcosis
  • Cytomegalovirus (CMV)

The risk of these infections increases as the CD4+ count decreases.

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35
Q

Fill in the blank: The risk of tuberculosis (TB) increases as the CD4+ count ______.

A

decreases

A high index of suspicion is necessary for diagnosing TB in PLWH.

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36
Q

What is the primary transmission method for Mycobacterium tuberculosis?

A

Inhalation of particles containing tubercle bacilli

Tuberculosis can be overlooked as it may present with non-specific symptoms.

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37
Q

What symptoms may indicate the presence of Mycobacterium avium complex (MAC) infection?

A
  • Persistent fever
  • Night sweats
  • Fatigue
  • Weight loss
  • Anorexia

MAC can cause severe disseminated disease in people with advanced AIDS.

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38
Q

True or False: Most cases of toxoplasmosis arise from new infections.

A

False

Most cases arise from re-activation of latent infection.

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39
Q

What is the leading cause of morbidity and mortality among people with HIV?

A

Tuberculosis (TB)

TB is a significant concern in PLWH, especially with low CD4+ counts.

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40
Q

What are some common symptoms of focal encephalitis due to toxoplasmosis?

A
  • Headache
  • Confusion
  • Seizures
  • Motor weakness
  • Fever

Less common symptoms may include multi-focal organ involvement.

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41
Q

What is the clinical presentation of disseminated disease in cryptococcosis?

A

Subacute meningitis or meningoencephalitis

Symptoms may include fever, malaise, and headache.

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42
Q

What is a common symptom of eosinophilic esophagitis?

A

Dysphagia

Patients may also experience odynophagia.

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43
Q

What type of polyps are characterized by multiple hamartomatous growths?

A

Peutz-Jeghers polyps

This condition is also associated with an increased risk of gastrointestinal cancers.

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44
Q

What is the typical presentation of pneumocystis pneumonia in HIV patients?

A

Progressive shortness of breath

Symptoms may include fever and cough, often with a gradual onset.

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45
Q

What is the role of prophylaxis in patients with a CD4+ count less than 200 cells/microlitre?

A

Prophylaxis for PCP and candidiasis is recommended

This is crucial to prevent opportunistic infections in immunocompromised patients.

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46
Q

What are some common manifestations of abdominal pain in patients with HIV?

A

Abdominal pain may result from involvement of retro-peritoneal lymph nodes and chronic diarrhea from gut mucosa.

Other manifestations include hepatosplenomegaly, lymphadenopathy, and rarely jaundice.

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47
Q

What are some unusual presentations of infections in patients with HIV?

A

Unusual presentations include:
* Palatal and gingival ulceration
* Septic arthritis
* Osteomyelitis
* Endophthalmitis
* Pericarditis
* Gastrointestinal bleeding

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48
Q

Which organism is primarily responsible for mucosal infections in immunocompromised patients?

A

Candida albicans

Occasionally, infections may also be caused by C. glabrata, C. tropicalis, and C. krusei.

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49
Q

What is the relationship between CD4 count and the risk of opportunistic infections in HIV patients?

A

The risk of opportunistic infections increases as the CD4 count decreases.

For example, PCP and candidiasis are more likely when CD4 count is < 200 cells/microlitre.

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50
Q

What are some common opportunistic infections encountered in HIV patients?

A

Common opportunistic infections include:
* Tuberculosis (TB)
* Mycobacterium avium complex (MAC)
* Candidiasis
* Pneumocystis jirovecii pneumonia
* Toxoplasmosis
* Cryptococcosis
* Cytomegalovirus (CMV)

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51
Q

True or False: Tuberculosis (TB) can present with normal chest x-rays in some cases.

A

True

Chest x-rays may appear normal in about 10% of TB cases.

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52
Q

What symptoms may indicate the presence of tuberculosis in HIV patients?

A

Symptoms may include:
* Shortness of breath
* Cough
* Lymphadenopathy
* Headache
* Meningismus
* Abdominal pain
* Dysuria
* Abscess formation

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53
Q

Fill in the blank: Infection with Mycobacterium avium and Mycobacterium intracellulare can cause ______ in advanced AIDS patients.

A

severe disseminated disease

54
Q

What is the main route of transmission for Mycobacterium tuberculosis?

A

Inhalation of particles containing tubercle bacilli.

55
Q

What is the significance of maintaining a high index of suspicion for TB in HIV patients?

A

A high index of suspicion must be maintained as TB may present with signs and symptoms that can be attributed to HIV itself.

56
Q

What type of vaccines are considered inactivated vaccines?

A

Inactivated vaccines contain whole bacteria or viruses that have been killed or have been inactivated.

They cannot cause the diseases they protect against, even in immunocompromised individuals.

57
Q

True or False: Inactivated vaccines tend to produce a stronger immune response than live attenuated vaccines.

A

False

Inactivated vaccines produce a weaker immune response, so multiple booster injections may be required.

58
Q

What are some examples of inactivated vaccines?

A

Examples of inactivated vaccines include:
* Inactivated poliovirus vaccine (IPV)
* Some inactivated flu vaccines
* Oral typhoid vaccine (not the injected vaccine)

59
Q

Fill in the blank: The risk of opportunistic infections in people living with HIV increases as the ______ count decreases.

A

CD4

60
Q

What genetic mutation is responsible for Paroxysmal Nocturnal Hemoglobinuria (PNH)?

A

A somatic mutation in the PIGA gene.

61
Q

What proteins are deficient on red blood cells in PNH?

A

CD55 and CD59

62
Q

What is the characteristic finding in the urine of patients with PNH?

A

Hemoglobinuria

63
Q

What diagnostic test is used to confirm PNH?

A

Flow cytometry to detect CD55 and CD59 deficiency on red blood cells.

64
Q

What is the most common life-threatening complication of PNH?

A

Venous thrombosis

65
Q

Why is LDH elevated in PNH?

A

Due to intravascular hemolysis

66
Q

What is the first-line treatment for PNH?

A

Eculizumab

67
Q

How does PNH lead to pancytopenia?

A

Through bone marrow failure

68
Q

What are the key laboratory findings in PNH?

A

Elevated LDH

69
Q

What alternative to eculizumab can be used to treat severe PNH?

A

Ravulizumab

70
Q

What is the primary genetic mutation in polycythemia vera (PV)?

A

JAK2 V617F mutation.

71
Q

What is the hallmark of polycythemia vera?

A

Increased red blood cell mass leading to elevated hemoglobin and hematocrit.

72
Q

What are the common symptoms of polycythemia vera?

A

Headaches

73
Q

What is the most common complication of polycythemia vera?

A

Thrombosis (arterial or venous).

74
Q

What is the first-line treatment for polycythemia vera?

A

Venesection to maintain hematocrit below 45%.

75
Q

What medication is used for high-risk patients with PV?

A

Hydroxycarbamide (hydroxyurea)

76
Q

What low-dose medication is recommended for all PV patients to reduce thrombosis risk?

A

Aspirin (75–100 mg daily).

77
Q

What are the diagnostic criteria for polycythemia vera?

A

Elevated hemoglobin/hematocrit

78
Q

What is the characteristic finding in erythropoietin levels in polycythemia vera?

A

Low erythropoietin levels.

79
Q

What are the main causes of secondary polycythemia?

A

Chronic hypoxia

80
Q

What is the target hematocrit level in PV management?

A

<45% in men and <42% in women.

81
Q

What is a major transformation risk in long-standing polycythemia vera?

A

Progression to myelofibrosis or acute myeloid leukemia (AML).

82
Q

What is the main difference between PV and secondary polycythemia?

A

PV is caused by a JAK2 mutation

83
Q

Why is pruritus common in polycythemia vera?

A

Due to histamine release from increased mast cells

84
Q

What is erythromelalgia

A

a symptom of PV?

85
Q

What is the primary defect in von Willebrand disease?

A

Deficiency or dysfunction of von Willebrand factor (vWF).

86
Q

What is the most common type of von Willebrand disease?

A

Type 1

87
Q

What is the classic presentation of von Willebrand disease?

A

Easy bruising

88
Q

How does von Willebrand factor (vWF) function in hemostasis?

A

It mediates platelet adhesion to the damaged vessel wall and stabilizes factor VIII.

89
Q

What diagnostic tests are used to confirm von Willebrand disease?

A

vWF antigen

90
Q

What is the main difference between von Willebrand disease and hemophilia A?

A

Von Willebrand disease is due to vWF deficiency

91
Q

What is the treatment for mild von Willebrand disease?

A

Desmopressin (DDAVP)

92
Q

What is the treatment for moderate to severe von Willebrand disease?

A

VWF-containing concentrates or cryoprecipitate.

93
Q

What role does desmopressin (DDAVP) play in treating von Willebrand disease?

A

It increases vWF release from endothelial cells and improves platelet adhesion.

94
Q

What is the diagnostic test for von Willebrand disease type 2

A

which involves defective vWF?

95
Q

How do you differentiate between von Willebrand disease and platelet dysfunction?

A

Platelet dysfunction typically has normal vWF levels but abnormal platelet aggregation studies.

96
Q

What is the most common bleeding symptom in von Willebrand disease?

A

Mucocutaneous bleeding

97
Q

What is the inheritance pattern of von Willebrand disease?

A

Autosomal dominant.

98
Q

What is the role of von Willebrand factor (vWF) in clotting? It helps platelets adhere to sites of vascular injury and stabilizes factor VIII

A

essential for clot formation.

99
Q

What is the medical importance of Parvovirus B19?

A

Causes Fifth disease (erythema infectiosum).

100
Q

What condition does HPV cause?

A

Warts

101
Q

What is the medical importance of Adenovirus?

A

Causes Conjunctivitis.

102
Q

What disease is caused by Hepatitis B (Hepadnavirus)?

A

Causes Hepatitis B.

103
Q

What is the medical importance of HSV1 (Herpesvirus)?

A

Causes oral lesions and some genital lesions.

104
Q

What is the medical importance of HSV2 (Herpesvirus)?

A

Causes genital lesions and some oral lesions.

105
Q

What is the medical importance of Varicella-zoster virus (Herpesvirus)?

A

Causes chickenpox and shingles.

106
Q

What diseases are caused by Epstein-Barr virus (Herpesvirus)?

A

Causes mononucleosis and Burkitt’s lymphoma.

107
Q

What is the medical importance of Cytomegalovirus (Herpesvirus)?

A

Causes congenital infections

108
Q

What disease is caused by HHV6 (Herpesvirus)?

A

Causes sixth disease (roseola).

109
Q

What cancer is associated with HHV8 (Herpesvirus)?

A

Causes Kaposi’s sarcoma.

110
Q

What is the medical importance of Poxvirus?

A

Causes smallpox.

111
Q

What disease is caused by Poliovirus (Picornavirus)?

A

Causes poliomyelitis.

112
Q

What is the medical importance of Rhinovirus (Picornavirus)?

A

Causes the common cold.

113
Q

What disease is caused by Coxsackievirus (Picornavirus)?

A

Causes Hand

114
Q

What disease is caused by Hepatitis A (Picornavirus)?

A

Causes hepatitis A.

115
Q

What disease is caused by Hepatitis E (Calicivirus)?

A

Causes hepatitis E.

116
Q

What is the medical importance of Norwalk virus (Calicivirus)?

A

Causes gastroenteritis.

117
Q

What disease is caused by Rotavirus (Reovirus)?

A

Causes diarrhea.

118
Q

What disease is caused by Hepatitis C (Flavivirus)?

A

Causes hepatitis C.

119
Q

What disease is caused by Rubella (Togavirus)?

A

Causes rubella (German measles).

120
Q

What disease is caused by HIV (Retrovirus)?

A

Causes HIV/AIDS.

121
Q

What disease is caused by Influenza (Orthomyxovirus)?

A

Causes influenza (flu).

122
Q

What diseases are caused by Measles (Paramyxovirus)?

A

Causes measles.

123
Q

What disease is caused by Mumps (Paramyxovirus)?

A

Causes mumps.

124
Q

What disease is caused by Parainfluenza (Paramyxovirus)?

A

Causes croup.

125
Q

What disease is caused by RSV (Paramyxovirus)?

A

Causes bronchiolitis.

126
Q

What disease is caused by Rabies (Rhabdovirus)?

A

Causes rabies.

127
Q

What is the medical importance of Ebola/Marburg (Filovirus)?

A

Causes hemorrhagic fever.

128
Q

What disease is caused by COVID-19 (Coronavirus)?

A

Causes COVID-19 and the common cold.

129
Q

What disease is caused by LCV (Arenavirus)?

A

Causes lymphocytic choriomeningitis.

130
Q

What disease is caused by Hantavirus (Bunyavirus)?

A

Causes hemorrhagic fever.

MSRA 2025 (1 decks)

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