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A. Neurofibromatosis
B. Sturge Weber syndrome
C. Tuberous sclerosis
D. Von hippel lindau disease
1. Ans. C. Tuberous sclerosis
1. Tuberous sclerosis (TS) is inherited as an autosomal dominant trait with variable penetrance and a prevalence of 1/6,000
people. Spontaneous genetic mutations occur in up to 75% cases. Molecular genetic studies have identified two foci for the
TS complex.
2. The TSC1 gene is located on chromosome 9q34, and the TSC2 gene is on chromosome 16p13. The 8.6-kb TSC1 transcript
encodes a protein of 130 kd called hamartin.
3. The TSC2 gene encodes the protein tuberin. Hamartin and tuberin act together as a single molecular complex at the Golgi
apparatus.
4. TS is an extremely heterogeneous disease with a wide clinical spectrum varying from severe mental retardation and
incapacitating seizures to normal intelligence and a lack of seizures, often within the same family.
5. As a rule, the younger the patient presents with symptoms and signs of TS, the greater is the likelihood of mental
retardation.
6. The disease affects many organ systems other than the skin and brain, including the heart, kidney, eyes, lungs, and bone.
2. What is your diagnosis after seeing this fundus?
A. Hypertensive retinopathy
C. Optic atrophy
B. Diabetes retinopathy
D. Retinitis pigmentosa
7.
8.
9.
Neovascularization may occur on the optic disc (NVD), elsewhere on the retina (NVE), or on the iris and in the anterior
chamber angle (NVI, or rubeosis irides).
Traction on these new vessels leads to hemorrhage and eventually scarring. The vision-threatening complications of
proliferative diabetic retinopathy are retinal and vitreous hemorrhages, cicatrization, traction, and retinal detachment.
Neovascularization of the iris may lead to secondary glaucoma if not treated promptly.
3. What is your diagnosis of a patient whose pure tone audiogram is given below?
A. Scabies
C. Psoriasis
B. Seborrheic dermatitis
D. Lichen planus
5. A patient has presented with enlargement of great toe as shown below given photograph. This is seen in
which condition?
A. Proteus syndrome
C. Tuberous sclerosis
B. Neu-fibromatosis
D. All of the above
A. Lachman test
B. Anterior drawer test
C. Lateral pivot shift test D. McMurray test
6. Ans. B. Anterior drawer test
1.
2.
3.
The anterior drawer test detects ACL injuries and is performed with the patient supine and the knee in 90 degrees of
flexion.
The lateral pivot shift test is performed with the patient supine, the hip flexed 45 degrees, and the knee in full extension.
Internal rotation is applied to the tibia while the knee is flexed to 40 degrees under a valgus stress (pushing the outside of
the knee medially).
The McMurray test, used to assess meniscal integrity, is performed with the patient supine and the examiner standing on
the side of the affected knee.
7. Following organism can cause a disease mimicking like which one of the following?
(A). Sarcoidosis
(C). Asthma
(B). Miliary TB
(D). Lung fibrosis
A. Median nerve
C. Axillary nerve
B. Radial nerve
D. Ulnar nerve
(A)Retinoblastoma
(B) Optic atrophy
(C) Papilledema
(D) Retinal detachment
a. Epicanthus
c. Cryptophthalmos
b. Microblepharon
d. Coloboma of the lid
12. The infant in the following pictures (A) and (B) presented with hepatosplenomegaly, anemia, persistent rhinitis, and a
maculopapular rash. The most likely diagnosis for this child is ?
A
(A). Toxoplasmosis
(B). Glycogen storage disease
(C). Congenital hypothyroidism
(D). Congenital syphilis
maculopapular peeling rash that is most prominent on the face, palms, and soles. Involvement of the nasal mucous membranes
causes rhinitis with a resultant serous and occasionally purulent, blood-tinged discharge (snuffles).
This, as well as scrapings from the skin lesions, contains abundant viable treponemes. Hepatosplenomegaly and lymphadenopathy
are common, and early jaundice is a manifestation of syphilitic hepatitis. Among the later manifestations, or stigmata, of congenital
syphilis is interstitial keratitis, which is an acute inflammation of the cornea that begins in early childhood (most commonly between
6 and 14 years of age). Interstitial keratitis represents the response of the tissue to earlier sensitization. Findings include marked
photophobia, lacrimation, corneal haziness, and eventual scarring.
13. A 3-year-old girl is admitted with the x-ray pictured. The child lives with her parents and a 6-week-old brother. Her
grandfather stayed with the family for 2 months. The grandfather had a 3-month history of weight loss, fever, and hemoptysis.
Appropriate management of this problem includes (See Fig)
(A).
(B).
(C).
(D).
13. Ans. (D). Treating the 3-year-old patient with isoniazid (INH) and rifampin (Behrman, 16/e, pp 885897.)
The key to controlling tuberculosis in children and eradicating the disease is early detection and appropriate treatment of adult
cases; the child, once infected, is at lifelong risk for the development of the disease and for infecting others unless given isoniazid
prophylaxis. The usual source of the disease is an infected adult. Household contacts of a person with newly diagnosed active
disease have a considerable risk of developing active tuberculosis, and the risk is greatest for infants and children. Therefore, when
tuberculosis is diagnosed in a child, the immediate family and close contacts should be tested with tuberculin skin tests and chest
radiographs and treated appropriately when indicated. Bronchoscopy would be indicated only in unusual circumstances. Three to
eight weeks is required after exposure before hypersensitivity to tuberculin develops. This means that the tuberculin test must be
repeated in exposed persons if there is a negative reaction at the time that contact with the source of infection is broken. TB skin
tests are usually negative in infants of this age, even when active disease is ongoing. A logical preventive measure is the
administration of isoniazid to the baby for 3 months when a Mantoux (purified protein derivative, PPD) can then be placed.
Transmission of tuberculosis occurs when bacilli-laden, small-sized droplets are dispersed into the air by the cough or sneeze of an
infected adult. Small children with primary pulmonary tuberculosis are not considered infectious to others, and they are not capable
of coughing up and producing sputum. Sputum, when produced, is promptly swallowed, and for this reason specimens for microbial
confirmation can be obtained by means of gastric lavage from smaller children.
A)
B)
C)
D)
A. Actinomyces somaliensis
B. Nocardia asteroides
C. Staphylococcus aureus
D. All of the above
15. Ans. C. Staphylococcus aureus.
(Ref. Ananthanarayan Microbiology 8th/pg. 402; H 17th/pg. 998)
Mycetomas are usually caused by fungi but may be caused by bacteria as well.
Even Staph. Aureus and other Pyogenic bacteria like S.pyogenes, Pseudomonas may occasionally cause a mycetoma-like lesion
*(botryomycosis). Bacterial mycetomas are usually caused by actinomycetes Actinomyces (A. israeliii, A. bovis), Nocardia (N.
asteroides, N. brasiliensis, N. caviae), Actinomadura (A. madurae, A. pelletierii), Streptomyces (S. somanliensis).
16. A 25-year-old woman noted increasing numbers of white spots on her scalp hairs 2 weeks earlier. Examination of the hair
shafts showed multiple white nodules completely encircling the hair shafts. The culture grew yellowish to cream fluffy colonies,
this condition is caused by?
A. Piedraia hortae
B. Pityrosporum orbicularia
C. Hortae werneckii
D. Trichosporon beigelii
16. Ans. D. Trichosporon beigelii
(Ref. Ananthanarayan Microbiology 7th ed. 570)
PIEDRA
This refers to colonization of the hair shaft that results in firm, irregular nodules.
If the nodule is dark, the infection is Black Piedra and is due to Piedraia hortae.
The nodule is the ascomycete fruiting body of the fungus, know as an ascostroma.
If the nodule is white, the infection is White Piedra and is due to Trichosporon beigelii.
These nodules are a loose aggregate of hyphae and arthroconidia.
The infection may affect hairs of the scalp, body and genital areas.
17. An aerobic, oxidase positive organism is isolated from the sputum of a 12-year-old cystic fibrosis patient with pneumonia. On
Agar culture the organisms have a "fruity" odor and form greenish colonies. (See Color Altas, Figure-12)
Most likely organism is?
A. Chlamydia pneumoniae
B. Klebsiella pneumoniae
C. P. aeruginosa
D. Serratia marcescens
17. Ans. C.
All of the options are potential etiological agents for pneumonias in humans. The laboratory descriptions of the organism best fits
Pseudomonas aeruginosa
18. A Pap smear from a 30-yr lady demonstrates following pathogen. (See Figure ) Organisms are likely to be
A. Cryptosporidium parvum
C. G. lamblia
B. E. histolytica
D. T. vaginalis
19. An obese 32 year old diabetic women presents with complaint of red and painful skin in her abdominal skin folds.
Examination reveals a creamy white material at the base of the fold. Microscopic examination of the exudates reveals oval
budding structures. The most likely causative agent is:
A. A. fumigatus
C. E. floccosum
B. C. albicans
D. M. canis
20. H & E stain of biopsy specimen from an AIDS patient shows spherules with endospores. Lactophenol analine blue
prepraration is also shown below. The most likely organism is
A. B. dermatitidis
C. C. immitis
B. C. albicans
D. C. neoformans