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(Other) Qbank > Quiz 59 > Flashcards

Quiz 59 Flashcards

1
Q

What type of bone lesions are seen in prostate cancer?

A

Ostoblastic

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2
Q

What type of bone lesions are seen in multiple myeloma?

A

Osteolytic lesions

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3
Q

What is defective in chronic granulomatous disease?

A

NADPH oxidase

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4
Q

What disease has a defect in NADPH oxidase?

A

chronic granulomatous disease

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5
Q

Young child presents with history of multiple boils, what disease are you concerned about?

A

Chronic granulomatous disease

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6
Q

What test can you use in chronic granulomatous disease?

A

Nitroblue tetrazolium test (NBT)

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7
Q

When do you see a positive NBT test?

A

Normal situation - will see blue

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8
Q

When do you see a negative NBT test?

A

Chronic granulomatous disease

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9
Q

What disease has anti-mitochondrial antibodies?

A

Primary biliary cirrhosis

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10
Q

What disease has anti-smooth muscle antibodies?

A

Autoimmune hepatitis

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11
Q

What antibodies are seen in Churg-Strauss?

A

P-ANCA

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12
Q

What nerve supplies the posterior compartment of the leg?

A

Tibial nerve

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13
Q

Ash leaf spots and shagreen patches are seen in what disease?

A

Ash leaf - hypopigmented patches and shagreen patches - leathery skin patches are seen in tuberous sclerosis

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14
Q

Young patient presents with cardiac rhabdomyoma and cortical hamartomas, what disease could this be?

A

Tuberous sclerosis

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15
Q

What is the inheritance pattern of tuberous sclerosis?

A

Autosomal dominant

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16
Q

What is the most commmon catheter associated UTI?

A

E. Coli

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17
Q

Punctate granulations in enlarged erythrocytes containing oval bodies is also know as what?

A

Schuffner dots

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18
Q

When does one see schuffner dots?

A

Malaria?

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19
Q

What malaria infections can cause relapses?

A

P. Vivax and P. Ovale

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20
Q

Where do P. Vivax and P. Ovale lay dormant?

A

Liver

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21
Q

What is the dormant form of P. Ovale and P. Vivax called?

A

Hypnozoite

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22
Q

Where does one get an infection with P. Vivax?

A

Western hemisphere (panama)

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23
Q

If a patient becomes infected with malaria while in panama, what organism are they infected with?

A

P. Vivax - only one in the western hemisphere

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24
Q

What drug resistance for anti-malarial is seen in Panama?

A

Chloroquine

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25
Q

What portion of the duodenum is not in the retroperitoneum?

A

Proximal duodenum

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26
Q

When sense the increased stretch in tendon reflex?

A

Spindle afferents

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27
Q

What inhibits muscle contraction in response to excessive stretch?

A

Golgi tendon organ

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28
Q

What is hypertelorism?

A

Increased distance between two organs/body parts - eg the eyes

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29
Q

What is the chromosomal defect in DiGeorge syndrome?

A

Deletion of chromosome 22

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30
Q

What signs and symptoms are seen in DiGeorge syndrome?

A

Cardiac abnormalities, abnormal facies (hypertelorism), thymic aplasia (immunodef.), cleft palate, hypocalcemia

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31
Q

In hyper-IgM syndrome, what is the defect?

A

Defect in surface protein CD40L

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32
Q

What immunoglobulins are reduced in ataxia-telangiectasia syndrome?

A

IgE and IgA

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33
Q

What disease does one see capillary distortions in the conjuctiva, gait abnormalities and reduced IgA and IgE?

A

Ataxia-telangiectasia

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34
Q

What is Conn syndrome?

A

Primary hyperaldosteronism

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35
Q

When do you see Conn syndrome?

A

Usually results from adrenal tumor that secretes excessive aldosterone

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36
Q

What is the cause of hyperacute rejection and in what time frame do you see this?

A

Caused from preformed antibodies (or compliment); seen in minutes to hours

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37
Q

What is the cause of acute rejection and when do you see it?

A

Caused by normal humoral/cell-mediated immune responses against foreign MHC molecules in the graft (T cell mediated); seen within days to weeks

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38
Q

Aortic dissection is due to what underlying condition?

A

Uncontrolled HTN

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39
Q

Sharp tearing chest pain that radiates to back

A

Aortic dissection

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40
Q

What is the underlying cause of AAA?

A

Atherosclerosis

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41
Q

What is Hgb A?

A

Two alpha chains and two beta chains

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42
Q

What is hemoglobin F?

A

Two alpha chains and two gamma chains

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43
Q

What is HbA2?

A

Two alpha chains with two delta chains

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44
Q

What Hgb is increased and decreased in Beta-thalassemia minor?

A

Increased HbA2, low HbA due to decreased beta chain

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45
Q

What Hgb is increased and decreased in Beta-thalassemia major?

A

Decreased HbA, increased HbF, can see increased HbA2

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46
Q

What is the predominant Hgb after 6 months of age?

A

Hemoglobin A - alpha2beta2

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47
Q

Immunocompromised patient with ring enhancing lesion on brain CT?

A

Toxoplasmosis - due to reactivation of latent infection

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48
Q

Venous stasis can cause ulcers where?

A

Just above the medial malleolus

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49
Q

Ulcer above the medial malleolus is seen when?

A

Venous stasis - due to CHF, venous valvular incompetence

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50
Q

Where do ulcers from PVD occur?

A

Usually at terminal arterial branches, tips of toes and at bony prominences

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51
Q

What does CCK do the gallbladder?

A

Contraction

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52
Q

What results from leukocyte adhesion deficiency?

A

Failure of leukocyte to diapedesis into area of injury; resulting in recurrent, chronic bacterial infections

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53
Q

Inability to form pus of abscess is the hallmark of what disease?

A

Leukocyte adhesion deficiency

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54
Q

What is the inheritance pattern for leukocyte adhesion deficiency?

A

Autosomal recessive

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55
Q

What is absent in leukocyte adhesion deficiency?

A

CD18 beta-2 subunits (the common beta-2 chain) of integrin molecules

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56
Q

Defect in beta-2 integrins results in what?

A

Leukocyte adhesion def.

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57
Q

Deficiency in CD11/CD18 family results in what immunodef?

A

Leukocyte adhesion def.

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58
Q

If newborn has delayed umbilical cord separation, what immunodef. Are you thinking about?

A

Leukocyte adhesion def

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59
Q

What is elevated in the blood of a patient with leukocyte adhesion def?

A

Neutrophils - have extreme neutrophilia

60
Q

What is neutrophil cytochrome B and when may it be deficient?

A

Part of the NADPH oxidase; may be deficient in chronic granulomatous disease

61
Q

6 month old girl, regressing motor abilities, blindness, no hepatomegaly, retinal pallor except in area of macula

A

Tay-Sachs

62
Q

What is the inheritance pattern of Tay-Sachs?

A

AR

63
Q

What enzyme is defective in Tay-Sachs?

A

Hexosaminidase A

64
Q

Accumulation of what is seen in Tay-Sachs?

A

Ganglioside GM2

65
Q

Deficiency in arylsulfatase A is seen in what disease?

A

Metachromatic leukodystrophy

66
Q

What enzyme is deficient in metachromatic leukodystrophy?

A

Arylsulfatase A

67
Q

What enzyme is deficient in Fabry disease?

A

Alpha-galactosidase A

68
Q

What is the inheritance pattern of Fabry disease?

A

X - linked

69
Q

What accumulates in Fabry disease?

A

Ceramide trihexoside

70
Q

What disease occurs when there is a deficiency in alpha-galactosidase A?

A

Fabry disease

71
Q

Accumulation of ganglioside GM2 is seen in what disease?

A

Tay-Sachs

72
Q

Deficiency in glucocerebrosidase is seen in what disease?

A

Gaucher disease

73
Q

Whorl-like corneal dystrophy, heart problems, renal failure, angiokeratoms, and GI sxs are seen in what lysosomal disease?

A

Fabry disease

74
Q

What enzyme is deficient in Niemann-Pick disease?

A

Sphingomyelinase

75
Q

Accumulation of sphingomyelin is seen in what lysosomal storage disease?

A

Niemann-Pick

76
Q

Accumulation of glucocerebroside is seen in what disease?

A

Gaucher

77
Q

Cherry-red spots with HSM is seen in what lysosomal disease?

A

Infantile form of Gaucher disease and Niemann-Pick disease

78
Q

What enzyme is defective in I cell disease?

A

N-acetylglucosaminyl-1-phosphotransferase

79
Q

What is the presentation of I cell disease?

A

Coarse facial features, skeletal abnormalities, hepatomegaly, cardiomegaly, FTT

80
Q

A defect in N-acetylglucosaminyl-1-phosphotransferase results in what disease? What process is inhibited?

A

I cell disease; inability to phosphorylate at the 6th carbon - low mannose-6-phosphate

81
Q

What antibodies are seen in Hashimotos thyroiditis?

A

Thyroid peroxidase (microsomal antigen), thyroglobulin, TSH receptor

82
Q

What region of the GI tract does E. histolytica invade the most?

A

Cecum and ascending colon

83
Q

How do patients with E. histolytica present?

A

Blood and pus in stool; liver abscess (anchovi paste)

84
Q

Nuclei with central karyosomes

A

E. Histolytica

85
Q

Nuclei with distinctive rods and granules of chromatin in a patient with diarrhea

A

E. Histolytica

86
Q

What aortic arch is responsible for ductus arteriosus?

A

6th

87
Q

What does the 6th branchial arch give rise to?

A

Proximal pulmonary arteries and ductus arteriosus (left only)

88
Q

The artery of the third branchial arch gives rise to what?

A

Common carotid and proximal internal carotid arteries

89
Q

What does the fourth branchial arch give rise to?

A

On the right - proximal subclavian artery; on the left - aortic arch

90
Q

At what vertebral level does the celiac artery branch from the aorta?

A

T12

91
Q

The celiac artery supplies what embryonic germ layer?

A

Foregut of endodermal organs, but also the spleen (mesodermal origin)

92
Q

What organ is supplied by the celiac artery but is from mesodermal origin?

A

Spleen

93
Q

Accumulation of ganglioside in the retina with foveal sparing is seen in what disease?

A

Tay - Sachs; describing cherry red spot

94
Q

Infant presenting with white pupillary reflex - what are three common causes?

A

Retinoblastoma, cataracts, retinal vascular hyperproliferation and scarring due to retinopathy of prematurity

95
Q

What HLA are associated with T1D?

A

HLA-DR3, HLA-DR4

96
Q

HLA-B27 is associated with what disease(s)?

A

Ankylosing spondylitis, psoriatic arthritis, IBD associated arthritis, reactive arthritis

97
Q

What is prosopagnosia?

A

Inability to recognize faces

98
Q

Infarcts in what region and by what artery can cause prosopagnosia?

A

Infarct in posterior cerebral artery on non-dominant (usually right) side

99
Q

Infarct in the region of the PCA on the non-dominant side of the brain can lead to what phenomenon?

A

Prosopagnosia - inability to recognize faces

100
Q

A lesion in Wernicke’s area in dominant lobe leads to what type of aphasia?

A

Receptive aphasia - cannot comprehend spoken language and their speech is fluent but lacks meaning

101
Q

Patient does not seem to comprehend what you are saying and speaks fluently but makes no sense, what type of lesion do you think they have?

A

Wernicke - receptive aphasia

102
Q

Where is Wernicke’s area?

A

Superior temporal gyrus of temporal lobe

103
Q

Where is Broca’s area?

A

Inferior frontal gyrus of frontal lobe

104
Q

Patient with lesion in Broca’s area has what type of aphasia?

A

Expressive - comprehension is intact, but speech is nonfluent (making the patient frustrated)

105
Q

What is Gerstmann syndrome?

A

Cannot comprehend written language (alexia), nor can they write (agraphia); also have acalculia, finger agnosia, right-left disorientation

106
Q

A cleft lip results when what fails to fuse?

A

Lateral maxillary prominence fails to fuse with the medial nasal prominences

107
Q

A cleft palate results when what fails to fuse?

A

Palatine shelves (maxillary prominences) fail to fuse with each other, or with the primary palate (medial nasal prominences)

108
Q

Thyroid FNA shows large numbers of lymphocytes and a few abnormal follicular cells with eosinophilic granular cytoplasm, what is the diagnosis?

A

Hashimotos; has lymphocytic infiltrate with germinal centers and Hurthle cells

109
Q

Patients with Hashimoto’s are at increased risk for what cancer?

A

Non-Hodgkin B cell lymphoma - specifically marginal zone lymphoma

110
Q

What is seen on FNA of a patient with Hashimotos?

A

Lymphocytic infiltrate, germinal centers, Hurthle cells (eosinophilic granular cytoplasm that line follicles)

111
Q

What three diseases, if untreated, can result in non-Hodgkins B cell lymphoma - marginal zone lymphoma?

A

Sjogrens, chronic H pylori gastritis, Hashimotos; specifically marginal zone lymphoma

112
Q

Patients with Down syndrome are at increased risk for what cancer?

A

Acute lymphoblastic leukemia

113
Q

What type of lung cancer can give rise to lambert-eaton myasthenic syndrome?

A

Small cell lung cancer

114
Q

What do you expect the results of edrophonium challenge to be in a patient with lambert eaton myasthenic syndrome?

A

Some improvement (vs. myasthenia gravis profound impovement)

115
Q

Lambert eaton is due to autoantibodies against what?

A

Presynaptic voltage gated calcium channels

116
Q

In myasthenia gravis, what are the autoantibodies against?

A

Postsynaptic nicotinic acetylcholine receptor - these are ligand-gated ion channels

117
Q

Weakness that is worse with inactivity and improves after exertion is seen in what neuromuscular disorder?

A

Lambert-Eaton myasthenic syndrome

118
Q

Rouleaux formation is seen in what disease?

A

Multiple myeloma

119
Q

Patient with hemoptysis and hematuria may have what autoimmune disease?

A

Goodpastures

120
Q

What are the symptoms of Goodpastures?

A

Hemoptysis and hematuria

121
Q

What are the antibodies against in Goodpastures?

A

Type IV collagen

122
Q

What type of HSR is Goodpastures?

A

Type II cytotoxic

123
Q

Anti-mitochondrial antibodies are seen in what disease?

A

Primary biliary cirrhosis

124
Q

What type of antibodies are seen in primary biliary cirrhosis?

A

Anti-mitochondrial

125
Q

Anti-myeloperoxidase antibodies are seen in what disease?

A

These are p-ANCA antibodies; seen in Churg-Strauss

126
Q

What are the symptoms of Churg-Strauss?

A

Hematuria, asthma, peripheral eosinophilia, GI tract hemorrhage

127
Q

Anti-proteinase 3 antibodies are seen in what disease?

A

These are c-ANCA antibodies - seen in granulomatosis with polyangiitis

128
Q

What is the only humoral immune deficiency in which there are no peripheral immature and mature B cells?

A

Bruton X linked agammaglobulinemia

129
Q

How does Bruton agammaglobulinemia classically present?

A

Increased susceptibility to encapsulated organisms - S pneumo, H influ, pseudomonas - recurrent otitis media, sinopulmonary sxs

130
Q

Absence of CD19+ cells, but presence of CD3+, CD4+, CD8+ cells?

A

No immature or mature B cells - bruton x linked agammaglobulinemia

131
Q

Bruton X linked agammaglobulinemia results in a mutation in what?

A

Tyrosine kinase

132
Q

Absence of CD40L results in what disease?

A

Hyper-IgM syndrome

133
Q

Deficiency in CD18 results in what disease?

A

Leukocyte adhesion deficiency

134
Q

What is the defect in leukocyte adhesion deficiency?

A

Defect in LFA-1 integrin (CD18)

135
Q

Metformin can cause what rare side effect?

A

Lactic acidosis

136
Q

What patients should metformin be avoided? Why?

A

Patients with renal insuff. Heart failure; due to lactic acidosis

137
Q

Infant with elevated ammonia and urine orotic acid, but decreased citrulline is deficient in what enzyme?

A

Ornithine transcarbamylase

138
Q

What does ornithine transcarbamolyse do?

A

Takes carbamoyl phosphate and ornithine to make citrulline

139
Q

What enzyme is responsible for making citrulline in the urea cycle? What are it’s substrates?

A

Ornithine transcarbamylase; substrates: ornithine, carbamoyl phosphate

140
Q

What is elevated in the urine of a patient with deficiency in ornithine transcarbamylase? Why?

A

Orotic acid is elevated in the urine; excess carbamoyl phosphate is converted to orotic acid via pyrimidine synthesis pathway

141
Q

What is the inheritance pattern of ornithine transcarbamylase def?

A

X linked recessive

142
Q

Urea cycle deficiencies follow what type of inheritance pattern? What is the exception?

A

All are AR except OTC def is X linked

143
Q

What is the rate limiting step of the urea cycle?

A

Carbamoyl phosphate synthetase I

144
Q

Deficiency in carbamoyl phosphate synthetase and ornithine transcarbamolyase can be differentiated how?

A

No orotic aciduria in CPS I def vs. OTC def has orotic aciduria

145
Q

Patient with elevated serum ammonia and elevated serum glutamine, orotic aciduria is seen in what disease?

A

Ornithine transcarbamylase def.

146
Q

Patient with hyperammonemia, elevated blood glutamine, no orotic aciduria is seen in what disease?

A

Carbamoyl phosphate synthetase

(Other) Qbank (33 decks)

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