Peds 10 Flashcards
Pathogenesis of Duchenne muscular dystrophy
X-linked frameshift mutation causing a absent or truncated dystrophin gene
How do you diagnose Duchenne’s
DNA peripheral blood analysis and/or immunohistochemical detection of abnormal dystrophin on a muscle biopsy
Will also have elevated CK due to muscle breakdown
What is the most common cause of death on Duchennes
o Dilated cardiomyopathy is common cause of death
- Respiratory failure is also a common cause
Inheritance of muscular dystrophy
X-linked recessive
What is a neuroblastoma
• Most common tumor of adrenal medulla in children
Describe metastatic spread of neuroblastoma
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”)
Describe lab markers of neuroblastoma
o Increased HVA and VMA in urine
Diagnostic test of choice for malrotation with volvulus
Upper GI - will show “corkscrew” pattern of the duodenum or “bird’s beak” of the 2nd or 3rd portion of the duodenum
Tx of malrotation with volvulus
Emergent surgery
Preceded by evaluation of fluid status
Describe posterior urethral valve
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
Describe management of male neonate with UTI
Evaluation of anatomy and function is necessary - renal US and voiding cystourethrogram should be performed
Most common infections caused by Klebsiella, Enterobacter, and Serratia
Pneumonia and UTI
Tx of Klebsiella, Enterobacter, and Serratia
Are often multi-drug resistant
Can treat with Carbapenem (Amy’s Hover car repair when others faiL)
Describe signature feature of Klebsiella
Currant jelly sputum with pneumonia
Describe infectivity strength of Salmonella vs. Shigella
Salmonella is acid labile - need high dose to cause infection
Shigella is acid stable - low dose can infect
What part of the body is chronic salmonella carried in
Gall bladder
Tx of Salmonella
Fluoroquinolones
What type of diarrhea is caused by Salmonella
S. Typhi = pea soup diarrhea
S. Enteritidis = inflammatory diarrhea
Describe HUS caused by E. Coli and Shiga toxin
- Toxin causes endothelial damage in glomerulus
- This activates platelets and causes their aggregation leading to a drop in platelet count
- Aggregated platelets lyse RBCs
Why is E. Coli so good at causing UTIs
Because of fimbriae
Diseases caused by E. Coli
UTI, sepsis, meningitis, watery diarrhea (ETEC), bloody diarrhea (EHEC), HUS
Mode of transmission of yersinia enterocolitica
Puppy feces and contaminated milk products
Presentation of Yersinia enterocolitica
- Bloody diarrhea
- Abd pain may mimic appendicitis
- Invasive systemic effects like fever, intestinal issues, leukocytosis, abscesses, bowel issues
Mode of transmisson of Yersinia Pestis
Human as incidental host, usually through fleas bites from rats or prairie dogs
Presentation of Yersinia Pestis
- 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
Treatment of Yersinia
Aminoglycosides or Tetracyclines
Mode of transmission of Campylobacter
Fecal oral, contaminated water supplies, ingestion of raw milk
Diseases caused by Campylobacter
- Bloody diarrhea
- Invasive bacteremia
- Reactive arthritis (Reiter’s syndrome)
- Guillam barre (ascending paralysis)
What are the 3 curved, or comma shaped, bacteria
Campylobacter, Vibrio, Helicobacter
Describe how Vibrio bacteria attach in the gut
Vibrio attaches to the mucosa by fimbriae that attach to ganglioside receptors in the intestinal wall = NOT INVASIVE (vs. invasive Camplyobacter)
Describe how Vibrio causes bacteria
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
Tx of Vibrio Cholera
Oral rehydration therapy with electrolytes
What is the main virulence factor of H. Pylori
Urease positive
o Urease splits urea into ammonia and CO2 = Allows to reduce the acidity of the stomach and allows Helicobacter to survive there
What cancers are associated with H. Pylori
Gastric adenocarcinoma, MALToma
Tx of H. Pylori
PPI + Amoxicillin + Macrolide
What type of bug is Pseudomonas
Gram negative rod
Diseases caused by Pseudomonas
- 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
Tx of Pseudomonas
Piperacillin + Tazobactam, Aminoglycosides, Fluoroquinolones
Tx of neisseria
Ceftriaxone
Describe pathogenesis of nursemaids elbow
♣ 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
How do you diagnose nursemaids elbow
♣ Clinical diagnosis – X-ray not necessary
Tx of nursemaids elbow
♣ 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
What shape should kids be able to draw at the following ages:
2, 3, 4, 5, 6, 7
2 = line 3 = circle 4 = cross 5 = square 6 = triangle 7 = diamond
At what age should kids be able to stack the following amount of blocks: 2, 3, 4, 5
2 = 15 months 4 = 18 months 6 = 24 months (think 2+4=6) 9 = 3 years
What type of play should kids be doing at the following ages: 1, 2, 3, 4, 5
1 = alone 2 = parallel play 3 = group play 4 = stories/imaginary friends 5 = cards/board games
Describe stepwise tx of persistent asthma
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
