6

Question 1

diagnostic test of DMD

Answer 1

DNA peripheral blood analysis and/or immunohistochemical detection of abnormal dystrophin on a muscle biopsy tissue section, elevated serum creatine kinase (CK) (also elevated in many female carriers of the gene)

Question 2

DMD genetics?

disease mechanism at the genetic level ?

Answer 2

X-linked recessive trait.
An out of frame mutation at the Xp21.2 locus encodes for an aberrant form of the protein dystrophin, which normally functions to stabilize the muscle membrane proteins.

Question 3

classic signs of Duchenne muscular dystrophy (DMD):

Answer 3

waddling gait and progressive proximal muscle weakness, enlarged calves, toe walking on ambulation, increasing lumbar lordosis (gluteal weakness), frequent falling, difficulty climbing stairs,

Question 4

other complications of DMD

Answer 4

Cardiomyopathy (EKG findings on the precordial leads of tall R waves on the right and deep Q waves on the left can be seen)
Nonprogressive intellectual impairment is common (mean IQ 80); brain atrophy can be seen on brain CT
respiratory failure, wheelchair dependent, scoliosis

Question 5

Becker MD

Answer 5

an X-linked recessive disease caused by a genetic in-frame mutation at the Xp21.2 locus, which results in a similar, but less severe disease with later onset than DMD.

Question 6

muscular dystrophy treatment

Answer 6

Orthopedic intervention, including bracing and tendon lengthening
Physiotherapy may delay the onset of contractures but can hasten muscle degeneration
Prednisone (optimal dosing 0.75 mg/kg/d) age 5 and older

Question 7

All DMD patients have some degree of ? so routine evaluation is required
may be responsive to ?

Answer 7

cardiomyopathy

Early cardiac dysfunction may be responsive to digoxin

Question 8

what is common cause of death in DMD

Answer 8

respiratory failure

Question 9

Another common form of MD is ? the second most common type of MD in the United States
genetics? presentation?

Answer 9

myotonic muscular dystrophy, autosomal dominant trait
inverted V-shaped upper lip, thin cheeks, and wasting of the temporalis muscles. The head is abnormally narrow, and the palate is high and arched
progressive challenges in walking, speech difficulties, GI tract problems, endocrinopathies, immunologic deficiencies, cataracts, intellectual impairment, and cardiac involvement.

Question 10

rales

Answer 10

Wet or “crackly” inspiratory breath sounds due to alveolar fluid or debris; usually heard in pneumonia or CHF

Question 11

staccato cough often heard in ?

Answer 11

pertussis and chlamydial pneumonia (Coughing spells with quiet intervals)

Question 12

pleural effusion

Answer 12

Fluid accumulation in the pleural space; may be associated with chest pain or dyspnea; can be transudate or exudate depending on results of fluid analysis for protein and LDH; origins include cardiovascular (CHF), infectious (mycobacterial pneumonia), and malignant (lymphoma)

Question 13

pulse oximetry

Answer 13

Noninvasive estimation of arterial oxyhemoglobin concentration (SPO2) using select wavelengths of light.

Question 14

CXR findings in pneumonia

Answer 14

single or multilobar consolidation (pneumococcal or staphylococcal pneumonia), air trapping with a flattened diaphragm (viral pneumonia with bronchospasm), perihilar lymphadenopathy (mycobacterial pneumonia) an interstitial pattern (mycoplasmal pneumonia), pleural effusion and abscess formation (bacterial infection)

Question 15

60% of pediatric pneumonias are ? in origin, with ? topping the list.
? run a close second

Answer 15

bacterial, pneumococcus topping the list

Viruses

Question 16

viruses implicated in ped pneumonia

Answer 16

respiratory syncytial virus [RSV], adenovirus, influenza, parainfluenza, enteric cytopathic human orphan [ECHO] virus, Coxsackie virus)

Question 17

diagnosis and treatment usually are directed by ? in pediatric pneumonia

Answer 17

pt s/s, physical and radiographic findings, and age as routine culture of nasopharynx and sputum is typically not performed

Question 18

pneumonia bugs 1st few days of life

Answer 18

Enterobacteriaceae and GBS

other possibilities include Staph, S. pneumo, and Listeria

Question 19

abx for newborn with pneumonia

Answer 19

ampicillin with either gentamicin or cefotaxime

Question 20

During the first few months of life, ? is a possibility, particularly in the infant with staccato cough and tachypnea

Answer 20

Chlamydia trachomatis
with or without conjunctivitis or known maternal chlamydia history
may have eosinophilia, and bilateral infiltrates with hyperinflation on chest radiograph

Question 21

treatment for chlamydial pneumonia

Answer 21

erythromycin, sulfisoxazole (the latter only in infants older than 2 months)

Question 22

Viral etiologies 1st few days of life include ?

Answer 22

HSV, enterovirus, influenza, and RSV; of these, HSV is the most concerning and prevalent viral pneumonia in the first few days of life, tx with IV acyclovir

Question 23

Beyond the newborn period and through approximately 5 years of age, viral pneumonia is common; common offenders?
Bacterial etiologies?

Answer 23

adenovirus, rhinovirus, RSV, influenza, and parainfluenza

pneumococcus and nontypeable Haemophilus influenzae.

Question 24

diagnostic tests for viral pneumonia

Answer 24

Nucleic acid PCR amplification of secretions from a nasal swab or wash

Question 25

The pediatric patient older than approximately 5 years of age with LRTI typically has ?

Answer 25

Mycoplasma

orgs listed for younger groups can occur as well

Question 26

abx coverage for ped pneumonia pt 5+ yrs

Answer 26

(coverage for mycoplasma and S. pneumo)
penicillins (amoxicillin, ampicillin), cephalosporins (ceftriaxone, cefuroxime), or macrolides (azithromycin). Vancomycin or clindamycin if CAP MRSA is suspected

Question 27

Pneumonia in the intubated intensive care patient with central lines may be related to ? or ?

Answer 27

Pseudomonas aeruginosa or fungal species (Candida)

Question 28

? are possibilities in the patient with chronic lung disease (cystic fibrosis)

Answer 28

Pseudomonas and Aspergillus

Question 29

5-mm induration may be considered a “positive PPD” at 48 to 72 hours in a patient with ?

Answer 29

confirmed exposure, abnormal CXR, or immunodeficiency.

Question 30

Standard antituberculous therapy, while awaiting culture and sensitivities, includes ?. For possible drug-resistant organisms, ? can be added temporarily as long as visual acuity can be followed

Answer 30

isoniazid, rifampin, and pyrazinamide

ethambutol

Question 31

typical antituberculosis therapy

Answer 31

initial phase of approximately 2 months’ duration on three or four medications, followed by a continuation phase of 4 to 7 months on isoniazid and rifampin
9 to 12 months is recommended for CNS or disseminated TB

Question 32

new TB tests

Answer 32

Quantiferon Gold In-Tube (QFT-GIT) test and the T-SPOT.TB (T-Spot) test
(both are interferon gamma release assays (IGRA))

Question 33

Marfan syndrome inheritance? gene involved?

Answer 33

autosomal dominant, fibrillin-1 gene

Question 34

cystathionine synthase deficiency is seen in what condition

Answer 34

homocystinuria

Question 35

OCD treatment

Answer 35

high-dose SSRI (i.e. fluoxetine) and exposure and response based therapy

Question 36

fever, severe headaches, and focal neurological changes are the classic triad for

Answer 36

brain abscess

Question 37

cyanotic congenital heart disease and recurrent sinusitis increases the risk for

Answer 37

brain abscess due to spread of bacteria from sinuses into frontal lobe and heard defect bypasses bad-filtering lungs (R->L shunt)

Question 38

abdominal pain, hematemesis, metabolic acidosis, radiopaque lesions in stomach on Xray, think ingestion of ?

Answer 38

iron

Question 39

scoliosis, “hammer toes”, HCM, dysarthria, frequent falling think?

Answer 39

Friedrich ataxia, most common type of apinocerebellar ataxia

autosomal recessiv

Question 40

The degree of proteinuria significant enough to warrant further diagnostic workup is defined as:

Answer 40

30 mg/dL (1+) on 2 random urine specimens collected one week apart if urine specific gravity is < 1.015; or
100 mg/dL (2+) on similarly collected urine if specific gravity is > 1.015.

Question 41

24 hr urine collection ranges for normal, abnormal, and nephrotic range

Answer 41

Normal: Amount of protein excreted is < 4 mg/m2/hour
Abnormal: 4-40 mg/m2/hour
Nephrotic range: > 40 mg/m2/hour

Question 42

Urine Protein:Creatinine Ratio (urine PCR)

Answer 42

less than 0.2 is normal in children older than 2 years (less than 0.5 is normal in 6- to 24-month-olds)
greater than 1.0 is in a suspicious range for nephrotic syndrome
greater than 2.5 is diagnostic for nephrotic syndrome

Question 43

other lab findings in nephrotic syndrom

Answer 43

hypoalbuminemia, hyperlipidemia, hyponatremia (fluid overload and hyperlipids)

Question 44

general treatment of nephrotic syndrome

Answer 44

corticosteroids and sodium restriction to a level of 1500-2000 mg daily.

Question 45

treatment of nephrotic syndrome if symptomatic (particularly to relieve dyspnea and edema if these symptoms are causing discomfort, or, in boys, to reduce scrotal edema that may compromise testicular perfusion)

Answer 45

25% albumin infusion followed with 1 to 2 mg/kg of furosemide to promote diuresis

Question 46

infectious complications of nephrotic syndrome

Answer 46

spontaneous peritonitis (S. pneumo, G-)
pneumonia, cellulitis, UTIs