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Ple 2015 Board Review May 2015 Patho Only
Ple 2015 Board Review May 2015 Patho Only
MAY 2015
PATHOLOGY
21. An infant with recurrent infections, thrombocytopenia and eczema was brought to the hospital. She
has low IgM, normal IgG and elevated IgA and IgE. The most probable diagnosis is:
Severe combined immunodeficiency are caused by diverse genetic mutations that lead to absence of all
adaptive immune function and, in some, a lack of natural killer (NK) cells. Patients with this group of
disorders have the most severe immunodeficiency. Affected infants present within the 1st few months of
life with recurrent or persistent diarrhea, pneumonia, otitis media, sepsis, and cutaneous infections.
Because all molecular types of SCID lack T-cells, infant with SCID have lymphopenia (<2500/mm3) that is
present at birth.
22. In hyperacute humoral rejection, the destruction of the graft cells is mediated by:
23. Patient came in for consult due to jaundice. PE revealed splenomegaly. Labs showed anemia with
presence of sickle cells in PBS. The disease is due to which type of mutation:
A. Frameshift C. Nonsense
B. Point mutation within non-coding sequence D. Missense
Missense mutation is a point mutation in which a single nucleotide change results in a codon that codes
for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations can render
the resulting protein nonfunctional, and such mutations are responsible for human diseases such as
Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS. Some children with SCD will start to
have problems early on, and some later. Early symptoms of SCD may include: Painful swelling of the
hands and feet, known as dactylitis, fatigue or fussiness from anemia, a yellowish color of the skin,
known as jaundice, or whites of the eyes, known as icteris, that occurs when a large number of red cells
hemolyze.
Splenic sequestration crisis. The spleen is an organ that is located in the upper left side of the belly. The
spleen filters germs in the blood, breaks up blood cells, and makes a kind of white blood cell. A splenic
sequestration crisis occurs when red blood cells get stuck in the spleen, making it enlarge quickly. Since
the red blood cells are trapped in the spleen, there are fewer cells to circulate in the blood. This causes
severe anemia.
A. Alkaptonuria C. Galactosemia
B. Phenylketonuria D. Cystic fibrosis
Alkaptonuria: the first human inborn of metabolism to be discovered, is a rare autosomal recessive
disorder which is due to a deficiency of homogentisic acid oxidase, which causes large amounts of
homogentisic acid to accumulate in the body and then to be excreted in the urine. Clinical
manifestations consist of ochronosis and arthritis in adulthood. The only sign in children is a blackening
of the urine on standing, caused by oxidation and polymerization of homogentisic acid.
Galactosemia: denotes the elevated level of galactose in the blood and is found in 3 distinct inborn
errors of galactose metabolism defective in 1 of the following enzymes: galactose-1-phosphate uridyl
transferase, galactokinase, and uridine diphosphate galactose-4-epimerase. The diagnosis of uridyl
transferase deficiency should be considered in newborn or young infants with any of the following
features: jaundice, hepatomegaly, vomiting, hypoglycemia, seizures, lethargy, irritability, feeding
difficulties, poor weight gain or failure to regain birth weight, aminoaciduria, nuclear cataracts, vitreous
hemorrhage, hepatic failure, liver cirrhosis, acites, splenomegaly or mental retardation.
Cystic fibrosis: an inherited multisystem disorder of children and adults. It is the most common life-
limiting recessive genetic trait among white persons.
A. Folate C. Biotin
B. Panthothenic acid D. All of the above
Folate/Folic acid: Megalobalstic anemia, growth retardation, glossitis, neural tube defects in progeny.
Panthothenic acid: irritability, fatigue, numbness, paresthesias (burning feet syndrome), muscle cramps.
Biotin: Scaly periorificial dermatitis, conjunctivitis, alopecia, lethargy, hypotonia, withdrawn behavior.
A. Mercury C. Dioxin
B. Arsenic D. None of the above
27. What is the most important substrate in the development of neonatal respiratory distress syndrome:
Respiratory distress syndrome or Hyaline Membrane Disease occurs primarily in premature infants.
Surfactant deficiency (decreased production and secretion) is the primary cause of RDS. The major
constituent of surfactant are dipalmitoyl phosphatidylcholine (lecithin), phosphatidylglycerol,
apoproteins and cholesterol. Because of immaturity, the amounts produced or released may be
insufficient to meet the post natal demand.
A. Hemangioma C. Teratoma
B. Lymphangioma D. Retinoblastoma
Hemangiomas, the most common benign tumors of infancy occur in 5% of term infants. These are
proliferative hamartomas of vascular endothelium that may be present at birth or, more commonly,
may become apparent in the 1st 2 months of life, predictably enlarge, and then spontaneously involute.
Lymphangioma is the second most common benign vascular tumor in children. About half are located in
the head and neck area.
Allergic polyangiitis, also known as Churg-Strauss syndrome, is characterized by asthma, peripheral and
tissue eosinophilia, extravascular granuloma formation, and vasculitis of multiple organ systems.
Polyarteritis Nodosa (PAN) is a multisystem, necrotizing vasculitis of small and medium-sized muscular
arteries in which involvement of the renal and visceral arteries is characteristic. PAN does not involve
pulmonary arteries, although bronchial vessels may be involved; granulomas, significant eosinophila,
and an allergic diasthesis are not observed.
Hypersensitivity vasculitis (cutaneous vasculitis) occurs either as part of a primary systemic vasculitis or
as a secondary vasculitis related to an inciting agent or an underlying disease.
30. Weakened pulses in the upper extremities are compatible with which blood vessel condition:
Takayasu’s arteritis is an inflammatory and stenotic disease of medium- and large-sized arteries
characterized by a strong predilection for the aortic arch and its branches. The generalized symptoms
include malaise, fever, night sweats, arthralgias, anorexia, and weight loss, which may occur months
before vessel involvement is apparent. Pulses are commonly absent in the involved vessels, particularly
the subclavian artery.
31. What is the most consistent sign of infective endocarditis:
A. Cough C. Fever
B. Chest pain D. Edema
32. An infarct was noted affecting the anterior wall of the left ventricle extending to the apex. The
coronary artery most probably obstructed is:
Hairy cell leukemia is a rare disease that presents predominantly in older males. Typical presentation
involves pancytopenia, although occasional patients will have a leukemic presentation. Splenomegaly is
usual.
34. Punched out lesion seen in patient is associated with which of the following?
35. The mechanism of decreased hemoglobin and hematocrit seen in Aplastic anemia is?
A. Intravascular hemolysis
B. Decreased production due to decreased hematopoetin level
C. Bone marrow failure
D. Depleted iron stores
Aplastic anemia is pancytopenia with bone marrow hypocellularity. Bone marrow failure results from
severe damage to hematopoetic cell compartment.
36. Patients with Hemophilia A will show which of the following laboratory findings?
37. Patient is a 50 year old male 30 pack years smoker presented with cough, weight loss, chest pain and
dyspnea. PE revealed features consistent with Cushing syndrome. Most probable histologic type of lung
Ca patient is suffering from is:
A. Adenocarcinoma
B. Squamous cell
C. Small Cell
D. Large Cell
38. A 53 year old male noticed a rapidly enlarging mass on his right cheek. Biopsy revealed poorly
demarcated lesion composed of squamous, mucous and intermediate cells disclosed in cords and in
sheets with small to large mucus filled vacuoles. Most probable diagnosis would be:
A. Pleomorphic adenoma
B. Mucoepidermoid carcinoma
C. Warthin Tumor
D. Adenoid cystic carcinoma
E. Acinic cell carcinoma
40. A patient diagnosed to have carcinoma in the bladder would be most likely to which type?
41. Six hours prior to admission, a 30 year old male was brought to the ER for abdominal pain described
as constant and intense radiating to the upper back and left shoulder. CBC revealed leukocytosis,
urinalysis was normal. Amylase was increased, lipase was normal. What is the most likely diagnosis?
A. Acute appendicitis C. Renal colic
B. Acute pancreatitis D. None
42. A patient has hematuria, back pain and presence of right renal mass in the cortex on
ultrasonography. Which of the following conditions will you primarily consider?
43. A sexually active young male noticed multiple reddish-brown lesions in his penis. Biopsy showed
proliferation of the epidermis with numerous mitosis. Which of the following is the closest diagnosis?
44. Colposcopic finding in a 55 year old female showed several nodules and ulceration of the cervix.
Biopsy showed that the full thickness of the epithelium exhibits marked atypia with increased mitotic
figure and intact basement membrane. What will be your diagnosis?
46. A 41 year old female with thyroid mass was subjected to thyroidectomy. The specimen sent for
histopathology examination revealed malignant cells in leaf-like configuration. The cells have
intranuclear inclusions and some with grooving. This finding is compatible with:
A. Anaplastic carcinoma
B. Medullary carcinoma
C. Follicular carcinoma
D. Papillary carcinoma
E. None
47. A 50 year old male with a pigmented lesion near the nape since his childhood. He noted an increased
in size and itchiness of the lesion. Biopsy revealed nevus cells within the dermis and in the
dermoepidermal junction. Most probable diagnosis would be:
48. A 35 year old male for consultation due to a painful mass on his leg. A requested xray revealed a
tumor with lytic changes and thin shell of reactive bone. A biopsy was done revealing multiloculated
blood-filled cystic spaces. This tumor is compatible with:
Aneurysmal bone cyst: the walls are composed of plump uniform fibroblast, multiloculated osteoclast-
like giant cells, and reactive woven bone; a third of cases exhibit an unusual cartilage-like matrix called
blue bone.
Osteochondroma: the cartilage cap has the appearance of disorganized growth plate and undergoes
enchondral ossification. The outer stalk cortex and medullary cavities of the cap are in continuity with
the cortex and marrow cavity of the underlying bone.
Fibrous dysplasia: lesions are composed of curvilinear trabeculae of woven bone.
Non ossifying fibroma: these are gray-yellow cellular lesions containing cytologically bland fibroblasts
and macrophages.
49. Patient is a diagnosed case of HIV presented with encephalitis. India ink preparation of CSF was
positive. The etiologic agent is: