Peds 10

Question 1

Pathogenesis of Duchenne muscular dystrophy

Answer 1

X-linked frameshift mutation causing a absent or truncated dystrophin gene

Question 2

How do you diagnose Duchenne’s

Answer 2

DNA peripheral blood analysis and/or immunohistochemical detection of abnormal dystrophin on a muscle biopsy

Will also have elevated CK due to muscle breakdown

Question 3

What is the most common cause of death on Duchennes

Answer 3

o Dilated cardiomyopathy is common cause of death

• Respiratory failure is also a common cause

Question 4

Inheritance of muscular dystrophy

Answer 4

X-linked recessive

Question 5

What is a neuroblastoma

Answer 5

• Most common tumor of adrenal medulla in children

Question 6

Describe metastatic spread of neuroblastoma

Answer 6

o Typically involves the long bone and skull, lymph nodes, liver, and skin
o Bluish skin discoloration represents subcutaneous infiltration
o Pulmonary involvement = respiratory distress
o Bone marrow involvement may cause bone pain and pancytopenia
o If orbital bones are involved, proptosis and bluish periorbital discoloration, described as “raccoon eyes”
o May present with opsoclonus-myoclonus syndrome (“dancing eyes-dancing feet”)

Question 7

Describe lab markers of neuroblastoma

Answer 7

o Increased HVA and VMA in urine

Question 8

Diagnostic test of choice for malrotation with volvulus

Answer 8

Upper GI - will show “corkscrew” pattern of the duodenum or “bird’s beak” of the 2nd or 3rd portion of the duodenum

Question 9

Tx of malrotation with volvulus

Answer 9

Emergent surgery

Preceded by evaluation of fluid status

Question 10

Describe posterior urethral valve

Answer 10

o An obstructing membrane in the posterior male urethra as a result of abnormal in utero development
o Most common cause of bladder outlet obstruction in male newborns

Question 11

Describe management of male neonate with UTI

Answer 11

Evaluation of anatomy and function is necessary - renal US and voiding cystourethrogram should be performed

Question 12

Most common infections caused by Klebsiella, Enterobacter, and Serratia

Answer 12

Pneumonia and UTI

Question 13

Tx of Klebsiella, Enterobacter, and Serratia

Answer 13

Are often multi-drug resistant

Can treat with Carbapenem (Amy’s Hover car repair when others faiL)

Question 14

Describe signature feature of Klebsiella

Answer 14

Currant jelly sputum with pneumonia

Question 15

Describe infectivity strength of Salmonella vs. Shigella

Answer 15

Salmonella is acid labile - need high dose to cause infection

Shigella is acid stable - low dose can infect

Question 16

What part of the body is chronic salmonella carried in

Answer 16

Gall bladder

Question 17

Tx of Salmonella

Answer 17

Fluoroquinolones

Question 18

What type of diarrhea is caused by Salmonella

Answer 18

S. Typhi = pea soup diarrhea

S. Enteritidis = inflammatory diarrhea

Question 19

Describe HUS caused by E. Coli and Shiga toxin

Answer 19

• Toxin causes endothelial damage in glomerulus
• This activates platelets and causes their aggregation leading to a drop in platelet count
• Aggregated platelets lyse RBCs

Question 20

Why is E. Coli so good at causing UTIs

Answer 20

Because of fimbriae

Question 21

Diseases caused by E. Coli

Answer 21

UTI, sepsis, meningitis, watery diarrhea (ETEC), bloody diarrhea (EHEC), HUS

Question 22

Mode of transmission of yersinia enterocolitica

Answer 22

Puppy feces and contaminated milk products

Question 23

Presentation of Yersinia enterocolitica

Answer 23

• Bloody diarrhea
• Abd pain may mimic appendicitis
• Invasive systemic effects like fever, intestinal issues, leukocytosis, abscesses, bowel issues

Question 24

Mode of transmisson of Yersinia Pestis

Answer 24

Human as incidental host, usually through fleas bites from rats or prairie dogs

Question 25

Presentation of Yersinia Pestis

Answer 25

- Bubonic plague = fever, chills, weakness, HA, followed by pain and swelling in lymph node - Septicemic plague = fever, GI sx, hypotension, DIC, multiorgan failure - Pneumonic plague = fever, dyspnea, pleuritic chest pain, cough, maybe bloody sputum

Question 26

Treatment of Yersinia

Answer 26

Aminoglycosides or Tetracyclines

Question 27

Mode of transmission of Campylobacter

Answer 27

Fecal oral, contaminated water supplies, ingestion of raw milk

Question 28

Diseases caused by Campylobacter

Answer 28

- Bloody diarrhea - Invasive bacteremia - Reactive arthritis (Reiter's syndrome) - Guillam barre (ascending paralysis)

Question 29

What are the 3 curved, or comma shaped, bacteria

Answer 29

Campylobacter, Vibrio, Helicobacter

Question 30

Describe how Vibrio bacteria attach in the gut

Answer 30

Vibrio attaches to the mucosa by fimbriae that attach to ganglioside receptors in the intestinal wall = NOT INVASIVE (vs. invasive Camplyobacter)

Question 31

Describe how Vibrio causes bacteria

Answer 31

o After attaching to mucosal wall, Vibrio then releases cholera toxin ♣ Toxin upregulates production of cAMP by binding to and constitutively activating adenylate cyclase in the Gs pathway (Gas canister) • Activates GS = upregulates cAMP = Produces watery diarrhea through an efflux if Cl and H2O

Question 32

Tx of Vibrio Cholera

Answer 32

Oral rehydration therapy with electrolytes

Question 33

What is the main virulence factor of H. Pylori

Answer 33

Urease positive o Urease splits urea into ammonia and CO2 = Allows to reduce the acidity of the stomach and allows Helicobacter to survive there

Question 34

What cancers are associated with H. Pylori

Answer 34

Gastric adenocarcinoma, MALToma

Question 35

Tx of H. Pylori

Answer 35

PPI + Amoxicillin + Macrolide

Question 36

What type of bug is Pseudomonas

Answer 36

Gram negative rod

Question 37

Diseases caused by Pseudomonas

Answer 37

- Pneumonia and pulmonary infections in CF pts - Osteomyelitis (especially in diabetics and IV drug users) - UTI - Skin lesions (hot tub folliculitis, ecthyma grangrenosum) - Otitis externa (swimmer's ear) - Especially affects burn patients

Question 38

Tx of Pseudomonas

Answer 38

Piperacillin + Tazobactam, Aminoglycosides, Fluoroquinolones

Question 39

Tx of neisseria

Answer 39

Ceftriaxone

Question 40

Describe pathogenesis of nursemaids elbow

Answer 40

♣ Subluxation (aka partial dislocation) of the radial head ♣ Annular ligament is torn at the attachment site to the radius bone when sudden traction is placed on the child’s arm ♣ The radial head slips through the tear, and when the pulling motion has ceased, the radial head recoils with a small portion of the annular ligament trapped between the radius and humerus

Question 41

How do you diagnose nursemaids elbow

Answer 41

♣ Clinical diagnosis – X-ray not necessary

Question 42

Tx of nursemaids elbow

Answer 42

♣ Supinate the forearm with the elbow in in flexed position while applying pressure over the radial head – a click may be felt when the annular ligament is freed from the joint

Question 43

What shape should kids be able to draw at the following ages: 2, 3, 4, 5, 6, 7

Answer 43

``` 2 = line 3 = circle 4 = cross 5 = square 6 = triangle 7 = diamond ```

Question 44

At what age should kids be able to stack the following amount of blocks: 2, 3, 4, 5

Answer 44

``` 2 = 15 months 4 = 18 months 6 = 24 months (think 2+4=6) 9 = 3 years ```

Question 45

What type of play should kids be doing at the following ages: 1, 2, 3, 4, 5

Answer 45

``` 1 = alone 2 = parallel play 3 = group play 4 = stories/imaginary friends 5 = cards/board games ```

Question 46

Describe stepwise tx of persistent asthma

Answer 46

1) Low dose inhaled glucocorticoids 2) Low dose inhaled glucocorticoids + LABA 3) Medium dose inhaled glucocorticoids + LABA 4) High dose inhaled glucocorticoids + LABA 5) High dose inhaled glucocorticoids + LABA + oral systemic glucocorticoids