Quiz 59 Flashcards
What type of bone lesions are seen in prostate cancer?
Ostoblastic
What type of bone lesions are seen in multiple myeloma?
Osteolytic lesions
What is defective in chronic granulomatous disease?
NADPH oxidase
What disease has a defect in NADPH oxidase?
chronic granulomatous disease
Young child presents with history of multiple boils, what disease are you concerned about?
Chronic granulomatous disease
What test can you use in chronic granulomatous disease?
Nitroblue tetrazolium test (NBT)
When do you see a positive NBT test?
Normal situation - will see blue
When do you see a negative NBT test?
Chronic granulomatous disease
What disease has anti-mitochondrial antibodies?
Primary biliary cirrhosis
What disease has anti-smooth muscle antibodies?
Autoimmune hepatitis
What antibodies are seen in Churg-Strauss?
P-ANCA
What nerve supplies the posterior compartment of the leg?
Tibial nerve
Ash leaf spots and shagreen patches are seen in what disease?
Ash leaf - hypopigmented patches and shagreen patches - leathery skin patches are seen in tuberous sclerosis
Young patient presents with cardiac rhabdomyoma and cortical hamartomas, what disease could this be?
Tuberous sclerosis
What is the inheritance pattern of tuberous sclerosis?
Autosomal dominant
What is the most commmon catheter associated UTI?
E. Coli
Punctate granulations in enlarged erythrocytes containing oval bodies is also know as what?
Schuffner dots
When does one see schuffner dots?
Malaria?
What malaria infections can cause relapses?
P. Vivax and P. Ovale
Where do P. Vivax and P. Ovale lay dormant?
Liver
What is the dormant form of P. Ovale and P. Vivax called?
Hypnozoite
Where does one get an infection with P. Vivax?
Western hemisphere (panama)
If a patient becomes infected with malaria while in panama, what organism are they infected with?
P. Vivax - only one in the western hemisphere
What drug resistance for anti-malarial is seen in Panama?
Chloroquine
What portion of the duodenum is not in the retroperitoneum?
Proximal duodenum
When sense the increased stretch in tendon reflex?
Spindle afferents
What inhibits muscle contraction in response to excessive stretch?
Golgi tendon organ
What is hypertelorism?
Increased distance between two organs/body parts - eg the eyes
What is the chromosomal defect in DiGeorge syndrome?
Deletion of chromosome 22
What signs and symptoms are seen in DiGeorge syndrome?
Cardiac abnormalities, abnormal facies (hypertelorism), thymic aplasia (immunodef.), cleft palate, hypocalcemia
In hyper-IgM syndrome, what is the defect?
Defect in surface protein CD40L
What immunoglobulins are reduced in ataxia-telangiectasia syndrome?
IgE and IgA
What disease does one see capillary distortions in the conjuctiva, gait abnormalities and reduced IgA and IgE?
Ataxia-telangiectasia
What is Conn syndrome?
Primary hyperaldosteronism
When do you see Conn syndrome?
Usually results from adrenal tumor that secretes excessive aldosterone
What is the cause of hyperacute rejection and in what time frame do you see this?
Caused from preformed antibodies (or compliment); seen in minutes to hours
What is the cause of acute rejection and when do you see it?
Caused by normal humoral/cell-mediated immune responses against foreign MHC molecules in the graft (T cell mediated); seen within days to weeks
Aortic dissection is due to what underlying condition?
Uncontrolled HTN
Sharp tearing chest pain that radiates to back
Aortic dissection
What is the underlying cause of AAA?
Atherosclerosis
What is Hgb A?
Two alpha chains and two beta chains
What is hemoglobin F?
Two alpha chains and two gamma chains
What is HbA2?
Two alpha chains with two delta chains
What Hgb is increased and decreased in Beta-thalassemia minor?
Increased HbA2, low HbA due to decreased beta chain
What Hgb is increased and decreased in Beta-thalassemia major?
Decreased HbA, increased HbF, can see increased HbA2
What is the predominant Hgb after 6 months of age?
Hemoglobin A - alpha2beta2
Immunocompromised patient with ring enhancing lesion on brain CT?
Toxoplasmosis - due to reactivation of latent infection
Venous stasis can cause ulcers where?
Just above the medial malleolus
Ulcer above the medial malleolus is seen when?
Venous stasis - due to CHF, venous valvular incompetence
Where do ulcers from PVD occur?
Usually at terminal arterial branches, tips of toes and at bony prominences
What does CCK do the gallbladder?
Contraction
What results from leukocyte adhesion deficiency?
Failure of leukocyte to diapedesis into area of injury; resulting in recurrent, chronic bacterial infections
Inability to form pus of abscess is the hallmark of what disease?
Leukocyte adhesion deficiency
What is the inheritance pattern for leukocyte adhesion deficiency?
Autosomal recessive
What is absent in leukocyte adhesion deficiency?
CD18 beta-2 subunits (the common beta-2 chain) of integrin molecules
Defect in beta-2 integrins results in what?
Leukocyte adhesion def.
Deficiency in CD11/CD18 family results in what immunodef?
Leukocyte adhesion def.
If newborn has delayed umbilical cord separation, what immunodef. Are you thinking about?
Leukocyte adhesion def
What is elevated in the blood of a patient with leukocyte adhesion def?
Neutrophils - have extreme neutrophilia
What is neutrophil cytochrome B and when may it be deficient?
Part of the NADPH oxidase; may be deficient in chronic granulomatous disease
6 month old girl, regressing motor abilities, blindness, no hepatomegaly, retinal pallor except in area of macula
Tay-Sachs
What is the inheritance pattern of Tay-Sachs?
AR
What enzyme is defective in Tay-Sachs?
Hexosaminidase A
Accumulation of what is seen in Tay-Sachs?
Ganglioside GM2
Deficiency in arylsulfatase A is seen in what disease?
Metachromatic leukodystrophy
What enzyme is deficient in metachromatic leukodystrophy?
Arylsulfatase A
What enzyme is deficient in Fabry disease?
Alpha-galactosidase A
What is the inheritance pattern of Fabry disease?
X - linked
What accumulates in Fabry disease?
Ceramide trihexoside
What disease occurs when there is a deficiency in alpha-galactosidase A?
Fabry disease
Accumulation of ganglioside GM2 is seen in what disease?
Tay-Sachs
Deficiency in glucocerebrosidase is seen in what disease?
Gaucher disease
Whorl-like corneal dystrophy, heart problems, renal failure, angiokeratoms, and GI sxs are seen in what lysosomal disease?
Fabry disease
What enzyme is deficient in Niemann-Pick disease?
Sphingomyelinase
Accumulation of sphingomyelin is seen in what lysosomal storage disease?
Niemann-Pick
Accumulation of glucocerebroside is seen in what disease?
Gaucher
Cherry-red spots with HSM is seen in what lysosomal disease?
Infantile form of Gaucher disease and Niemann-Pick disease
What enzyme is defective in I cell disease?
N-acetylglucosaminyl-1-phosphotransferase
What is the presentation of I cell disease?
Coarse facial features, skeletal abnormalities, hepatomegaly, cardiomegaly, FTT
A defect in N-acetylglucosaminyl-1-phosphotransferase results in what disease? What process is inhibited?
I cell disease; inability to phosphorylate at the 6th carbon - low mannose-6-phosphate
What antibodies are seen in Hashimotos thyroiditis?
Thyroid peroxidase (microsomal antigen), thyroglobulin, TSH receptor
What region of the GI tract does E. histolytica invade the most?
Cecum and ascending colon
How do patients with E. histolytica present?
Blood and pus in stool; liver abscess (anchovi paste)
Nuclei with central karyosomes
E. Histolytica
Nuclei with distinctive rods and granules of chromatin in a patient with diarrhea
E. Histolytica
What aortic arch is responsible for ductus arteriosus?
6th
What does the 6th branchial arch give rise to?
Proximal pulmonary arteries and ductus arteriosus (left only)
The artery of the third branchial arch gives rise to what?
Common carotid and proximal internal carotid arteries
What does the fourth branchial arch give rise to?
On the right - proximal subclavian artery; on the left - aortic arch
At what vertebral level does the celiac artery branch from the aorta?
T12
The celiac artery supplies what embryonic germ layer?
Foregut of endodermal organs, but also the spleen (mesodermal origin)
What organ is supplied by the celiac artery but is from mesodermal origin?
Spleen
Accumulation of ganglioside in the retina with foveal sparing is seen in what disease?
Tay - Sachs; describing cherry red spot
Infant presenting with white pupillary reflex - what are three common causes?
Retinoblastoma, cataracts, retinal vascular hyperproliferation and scarring due to retinopathy of prematurity
What HLA are associated with T1D?
HLA-DR3, HLA-DR4
HLA-B27 is associated with what disease(s)?
Ankylosing spondylitis, psoriatic arthritis, IBD associated arthritis, reactive arthritis
What is prosopagnosia?
Inability to recognize faces
Infarcts in what region and by what artery can cause prosopagnosia?
Infarct in posterior cerebral artery on non-dominant (usually right) side
Infarct in the region of the PCA on the non-dominant side of the brain can lead to what phenomenon?
Prosopagnosia - inability to recognize faces
A lesion in Wernicke’s area in dominant lobe leads to what type of aphasia?
Receptive aphasia - cannot comprehend spoken language and their speech is fluent but lacks meaning
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?
Wernicke - receptive aphasia
Where is Wernicke’s area?
Superior temporal gyrus of temporal lobe
Where is Broca’s area?
Inferior frontal gyrus of frontal lobe
Patient with lesion in Broca’s area has what type of aphasia?
Expressive - comprehension is intact, but speech is nonfluent (making the patient frustrated)
What is Gerstmann syndrome?
Cannot comprehend written language (alexia), nor can they write (agraphia); also have acalculia, finger agnosia, right-left disorientation
A cleft lip results when what fails to fuse?
Lateral maxillary prominence fails to fuse with the medial nasal prominences
A cleft palate results when what fails to fuse?
Palatine shelves (maxillary prominences) fail to fuse with each other, or with the primary palate (medial nasal prominences)
Thyroid FNA shows large numbers of lymphocytes and a few abnormal follicular cells with eosinophilic granular cytoplasm, what is the diagnosis?
Hashimotos; has lymphocytic infiltrate with germinal centers and Hurthle cells
Patients with Hashimoto’s are at increased risk for what cancer?
Non-Hodgkin B cell lymphoma - specifically marginal zone lymphoma
What is seen on FNA of a patient with Hashimotos?
Lymphocytic infiltrate, germinal centers, Hurthle cells (eosinophilic granular cytoplasm that line follicles)
What three diseases, if untreated, can result in non-Hodgkins B cell lymphoma - marginal zone lymphoma?
Sjogrens, chronic H pylori gastritis, Hashimotos; specifically marginal zone lymphoma
Patients with Down syndrome are at increased risk for what cancer?
Acute lymphoblastic leukemia
What type of lung cancer can give rise to lambert-eaton myasthenic syndrome?
Small cell lung cancer
What do you expect the results of edrophonium challenge to be in a patient with lambert eaton myasthenic syndrome?
Some improvement (vs. myasthenia gravis profound impovement)
Lambert eaton is due to autoantibodies against what?
Presynaptic voltage gated calcium channels
In myasthenia gravis, what are the autoantibodies against?
Postsynaptic nicotinic acetylcholine receptor - these are ligand-gated ion channels
Weakness that is worse with inactivity and improves after exertion is seen in what neuromuscular disorder?
Lambert-Eaton myasthenic syndrome
Rouleaux formation is seen in what disease?
Multiple myeloma
Patient with hemoptysis and hematuria may have what autoimmune disease?
Goodpastures
What are the symptoms of Goodpastures?
Hemoptysis and hematuria
What are the antibodies against in Goodpastures?
Type IV collagen
What type of HSR is Goodpastures?
Type II cytotoxic
Anti-mitochondrial antibodies are seen in what disease?
Primary biliary cirrhosis
What type of antibodies are seen in primary biliary cirrhosis?
Anti-mitochondrial
Anti-myeloperoxidase antibodies are seen in what disease?
These are p-ANCA antibodies; seen in Churg-Strauss
What are the symptoms of Churg-Strauss?
Hematuria, asthma, peripheral eosinophilia, GI tract hemorrhage
Anti-proteinase 3 antibodies are seen in what disease?
These are c-ANCA antibodies - seen in granulomatosis with polyangiitis
What is the only humoral immune deficiency in which there are no peripheral immature and mature B cells?
Bruton X linked agammaglobulinemia
How does Bruton agammaglobulinemia classically present?
Increased susceptibility to encapsulated organisms - S pneumo, H influ, pseudomonas - recurrent otitis media, sinopulmonary sxs
Absence of CD19+ cells, but presence of CD3+, CD4+, CD8+ cells?
No immature or mature B cells - bruton x linked agammaglobulinemia
Bruton X linked agammaglobulinemia results in a mutation in what?
Tyrosine kinase
Absence of CD40L results in what disease?
Hyper-IgM syndrome
Deficiency in CD18 results in what disease?
Leukocyte adhesion deficiency
What is the defect in leukocyte adhesion deficiency?
Defect in LFA-1 integrin (CD18)
Metformin can cause what rare side effect?
Lactic acidosis
What patients should metformin be avoided? Why?
Patients with renal insuff. Heart failure; due to lactic acidosis
Infant with elevated ammonia and urine orotic acid, but decreased citrulline is deficient in what enzyme?
Ornithine transcarbamylase
What does ornithine transcarbamolyse do?
Takes carbamoyl phosphate and ornithine to make citrulline
What enzyme is responsible for making citrulline in the urea cycle? What are it’s substrates?
Ornithine transcarbamylase; substrates: ornithine, carbamoyl phosphate
What is elevated in the urine of a patient with deficiency in ornithine transcarbamylase? Why?
Orotic acid is elevated in the urine; excess carbamoyl phosphate is converted to orotic acid via pyrimidine synthesis pathway
What is the inheritance pattern of ornithine transcarbamylase def?
X linked recessive
Urea cycle deficiencies follow what type of inheritance pattern? What is the exception?
All are AR except OTC def is X linked
What is the rate limiting step of the urea cycle?
Carbamoyl phosphate synthetase I
Deficiency in carbamoyl phosphate synthetase and ornithine transcarbamolyase can be differentiated how?
No orotic aciduria in CPS I def vs. OTC def has orotic aciduria
Patient with elevated serum ammonia and elevated serum glutamine, orotic aciduria is seen in what disease?
Ornithine transcarbamylase def.
Patient with hyperammonemia, elevated blood glutamine, no orotic aciduria is seen in what disease?
Carbamoyl phosphate synthetase
