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1
Q

Preferred initial test for confirming the diagnosis of coccidiomycosis

A

Serology (usually by highly sensitive qualitative enzyme immunoassay, which if positive, needs confirmation with more specific immunodiffusion and/or complement fixation tests)

If serology is inconclusive but disseminated coccidiomycosis is suspected, then additional testing such as CT, urine antigen testing, and tissue biopsy may be helpful

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2
Q

Best way to estimate arteriovenous oxygen saturation in a patient with cardiogenic shock

A

Internal jugular catheter with tip in the junction between the SVC and right atrium to approximate mixed venous blood

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3
Q

Risk factor most correlated with a victim’s risk of sexual abuse

A

Family structure (single parent family)

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4
Q

A patient presents with nausea, abdominal cramping, watery diarrhea, low-grade fever, fatigue,and headache. She recently participated in a summer camp with exposure to livestock, swimming pool and lack, and had a garden with produce (including lettuce).

How to make the diagnosis?

A

Detection of oocysts for Cryptosporidium parvum in stool by direct immunofluorescent antibody test OR detection of antigen in stool by POCT using enzyme immunoassay

Requires a minimum of 3 stool specimens collected on separate days due to intermittent shedding of oocysts

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5
Q

A patient with Guillain-Barre syndrome undergoes a lumbar puncture. What are the characteristic CSF findings?

A

High protein, normal WBC count

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6
Q

Toddler presents with new-onset painful perianal diaper rash that is very erythematous and has a well-defined border

Best treatment?

A

Keflex orally

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7
Q

The results of a tool can be generalized outside of the initial study group

A

External validity

** If an instrument is valid, it should be reliable. But, not all reliable instruments are valid.

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8
Q

A child has had frequent episodes of otitis media and torticollis. Her physical exam shows a short neck with decreased cervical motion. Cervical x-rays show vertebral fusion at C1-2 and C3-4.

Appropriate workup for this condition?

A
  • Thoracolumbar spine radiography to assess further vertebral fusions and scoliosis
  • Renal ultrasound b/c renal abnormalities can be clinically silent

Patient has Klippel-Feil syndrome

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9
Q

Anomlies in VACTERL

A
  • V: vertebral
  • A: anal atresia
  • C: cardiac
  • TE: TEF
  • R: renal
  • L: limb

3 must be present to make the diagnosis

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10
Q

A family will be traveling to a place with endemic polio for 5 weeks. Parents were born in the US and have received the complete polio vaccination series. Their 18-month-old child has received 3 doses at 2, 4, and 15 months of age. Who, if anyone, requires a dose of IPV?

A

The parents require a single lifetime booster of IPV if they are traveling to a polio-endemic area for > 4 weeks. The child cannot get another dose of IPV since it has not been 6 months since the 3rd dose, and the interval between the 3rd and 4th dose is at minimum 6 months. If the child’s last dose was >12 months old OR had completed the vaccine schedule for age, they can get another dose, but would still need their scheduled IPV at 4-6 years of age.

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11
Q

Why should athletes with type 1 diabetes mellitus decrease basal infusion rate of insulin (if using an insulin pump) or decrease pre-exercise doses of insulin?

A

Exercise increases sensitivity to insulin, which increases the risk of post-exercise hypoglycemia (typically peaks at 3-4 hours after exercise, up to 12 + hours)

These athletes should check their blood sugar after exercise and shortly before bedtime.

Risk of hypoglycemia is lower with early morning exercise because serum cortisol levels are higher while insulin sensitivity is lower in the morning.

After exercise, these athletes may need to consume snacks with a low glycemic index to counter the risk of late hypoglycemia.

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12
Q

Growth pattern seen on height growth chart for Turners

A

Short stature with declining growth velocity

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13
Q

The appearance of ___ differentiates TAR syndrome from Fanconi syndrome

A

A normal thumb

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14
Q

Young unimmunized child presents to the ER with signs and symptoms suspicious for acute Epiglottitis. What is the best next step?

A

100% humidified O2

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15
Q

A patient presents with nausea, abdominal cramping, watery diarrhea, low-grade fever, fatigue,and headache. She recently participated in a summer camp with exposure to livestock, swimming pool and lack, and had a garden with produce (including lettuce).

Most likely cause (bacteria)?

A

Cryptosporidium parvum

In the US, water-associated outbreaks of Cryptosporidum includes exposure to contaminated public drinking water and treated (swimming pools) and untreated (lakes) recreational water locations.

Typically has nonbloody watery diarrhea with abdominal pain, emesis, fever, loss of appetite, and weight loss. Symptoms are self-limited with resolution of symptoms by 2-3 weeks.

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16
Q

A child who fell while playing had an x-ray of the knee that showed a large (> 1/2 diameter of the tibia), well-defined radiolucent cortical lesion with surrounding rim of sclerosis. What is it and what should be done?

A

Non-ossifying fibroma. Serial x-rays every 6-12 months due to risk of pathologic fracture.

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17
Q

Characteristic appearance of HUS on peripheral blood smear

A

Thrombocytopenia and hemolytic anemia with schistocytes (indicator of mechanical hemolysis)

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18
Q

Antibody markers of Hashimoto thyroiditis

A

Thyroid peroxidase and thyroglobulin antibodies

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19
Q

A teenager with headaches is found to have high blood pressure (145/100 mmHg). Family history is significant for multiple family members with hypertension diagnosed in young adulthood.

Labs:
Na 139, K 2.9, Cl 100, HCO3 34, BUN 14, Cr 0.7, Glucose 98, Ca 9.6, Phos 5.2.

Normal UA, normal renal US.

Most likely cause of HTN? How does it cause this?

A

Liddle syndrome - pseudoaldosteronism

Autosomal dominant - increase in collecting tubule Na reabsorption and K secretion

They will also have metabolic alkalosis with high urinary Cl.

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20
Q

Mutation in ___ gene causes Marfan syndrome

A

FBN1 gene

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21
Q

A child is found to have adenomatous polyps on colonoscopy. Why should a thyroid ultrasound be obtained?

A

Patients with FAP are at increased risk of papillary thyroid cancer

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22
Q

CATCH-22 for 22q11.2 deletion syndrome

A
  • C: cardiac anomalies (interrupted aortic arch, truncus arteriosus, tetralogy of Fallot)
  • A: abnormal facies
  • T: thymic aplasia
  • C: cleft palate
  • H: hypocalcemia, hypoparathyroidism
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23
Q

What is reduced visual acuity because of abnormal visual development early in life called?

A

Ambylopia

  • Strabismic: abnormal alignment of the eyes
  • Refractive: significant different refractive error in the 2 eyes
  • Deprivational: interruption of the visual axis
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24
Q

SLUDGE mnemonic for CHOLINERGIC toxicity

A
  • Salivation
  • Lacrimation
  • Urination
  • Defecation/diarrhea
  • GI upset
  • Emesis
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25
Q

Degree to which cardiac myocytes are stretched (i.e. ventricular end-diastolic volume)

A

Preload

Underfilled ventricle contains less blood to eject, and the contractile elements will overlap. Overfilled ventricle will have insufficient interaction of contractile elements and will thus eject a smaller fraction of blood.

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26
Q

Thrombocytopenia with very small platelets, eczema, and immune deficiency

A

Wiskott-Aldrich syndrome

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27
Q

Crack in the pars interarticularis (posterior aspect of vertebral ring)

A

Spondylolysis

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28
Q

Which labs should be part of the critical sample, drawn at the time of hypoglycemia?

A
  • Serum: Glucose, lactate, insulin, C-peptide, B-hydroxy-butyrate, free fatty acids, cortisol, and growth hormone
  • Urine: ketones, organic acids

Ok to be drawn after correction of hypoglycemia: acylcarnitines, plasma amino acids, ammonia, CMP (electrolytes, liver enzymes)

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29
Q

In a sexually-active adolescent, the most common cause of dysuria is ___

A

Lower urinary tract infection

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30
Q

Arteriovenous oxygen saturation difference of ___ indicates shock while ___ indicates normal cardiac output.

A

Shock - greater than 40%

Normal cardiac output - 20-30%

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31
Q

Why is Bactrim contraindicated in infants less than 2 months of age?

A

Sulfonamides displace bilirubin from their albumin-binding sites, leading to increased serum bilirubin levels

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32
Q

Polycythemia is a hematocrit greater than ___ from a vein or central vessel?

A

65%

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34
Q

Patient with traumatic brain injury has low urine output, high urine sodium, and hypervolemia. What is the serum Na? What do you think is going on?

A

SIADH - hyponatremia

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36
Q

How to differentiate anemia caused by increased destruction vs decreased production?

A

Reticulocyte count

  • High with increased destruction
  • Low with decreased production
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37
Q

What is the appropriate management of a patient who has an isolated sinus fracture?

A

1) 1-week course of antibiotics
2) Sinus precautions - avoid nose blowing, swimming, straw use, playing wind instruments
3) Follow up with ENT or plastic surgery at 1 week, though surgery is rarely necessary

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38
Q

Ability of a tool to give consistent results on repeated trials

A

Reliability

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39
Q

Broad characteristic abnormalities of Stickler syndrome

A
  • Ocular: myopia, cataracts, and/or retinal detachment
  • Midface: flattened midface, depressed nasal bridge, short nose, anteverted nares, micrognathia, cleft lip/palate (with possible bifid uvula)
  • Hearing loss
  • Joint hypermobility
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40
Q

Consider this organism in patients with sickle cell disease who have osteomyelitis

A

Salmonella

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41
Q

A child with recurrent painless bright red blood per rectum is found to have 8 polyps on colonoscopy. Histology is suggestive of juvenile colonic polyp. Best next step?

A

Refer for genetic testing.

- A patient with 5+ juvenile polyps should be suspected to have a polyposis syndrome

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42
Q

Initial imaging vs definitive imaging for osteomyelitis

A

Initial: x-ray pelvis

Definitive: MRI

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43
Q

Location of fluid collection in a cephalohematoma

A

Subperiosteum

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45
Q

Which developmental abnormalities in a 3-month-old should prompt a referral to Ophthalmology?

A
  • Poor tracking
  • Lack of fixation
  • Nystagmus
  • Squinting
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48
Q

Patient with traumatic brain injury has excessive urine output (8-10cc/kg/hr), dilute urine, hypernatremia, and volume depletion. What do you think is going on?

A

Diabetes insipidus

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49
Q

Consider this organism in children younger than 4 years who have osteomyelitis

A

Kingella kingae

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50
Q

Increased urinary excretion of which metabolites are associated with decreased risk of renal stone formation?

A

Citrate (most important), Mg, pyrophosphate

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51
Q

How to improve stroke volume in cardiogenic shock

A
  • Decrease afterload
  • Decrease cardiac myocyte stretch with diuretics
  • Increasing actin-myosin interactions
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52
Q

When do eye movements transition from disconjugate gaze to conjugate gaze?

A

6 months of age

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53
Q

Most common cause of thyroid enlargement in children, especially in T21

A

Hashimoto thyroiditis

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55
Q

Peripheral blood smear in G6PD deficiency-associated hemolysis

A

Blister cells and polychromatic macrocytes

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56
Q

Method that maximizes the use of residual hearing to develop speech

A

Oral communication method - emphasizes listening skills, speech articulation, and uses hearing, speech, and lipreading to develop spoken language

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57
Q

Infant with Galactosemia will have ___ present in the urine indicating galactosuria

A

Reducing substances

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58
Q

Most common cause of childhood hypoglycemia (once other conditions have been excluded), especially in toddlers to school-age children

A

Ketotic hypoglycemia

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60
Q

Downward lens dislocation, low IQ

A

Homocystinuria

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62
Q

Both Bartter syndrome and Gitelman syndrome are characterized by hypokalemia and metabolic alkalosis. How can you differentiate them? Do they have HTN on presentation?

A

Bartter syndrome - acts similarly to Furosemide - can’t reabsorb NaCl in the ascending loop of Henle.
- Presents in childhood with growth restriction, polyuria, or polydipsia

Gitelman syndrome - acts similarly to HCTZ due to mutation in the thiazide-sensitive NaCL transporter in the distal tubule

  • Presents in late childhood or adulthood with muscle cramps (from hypokalemia), polyuria, or polydipsia
  • Reduced urinary calcium and hypomagnesemia (UNLIKE BARTTER SYNDROME)

Both are volume depleted because of excessive salt and water losses, so neither present with HTN.

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63
Q

A teenager has a witnessed seizure that is described as “unresponsive, lying on the floor, arms and legs jerking, then back to normal after 1 minute.” Mother had similar episodes many years ago.

Most likely diagnosis?

A

Syncopal episode with myoclonic jerks

  • This patient had an episode of unresponsiveness accompanied by muscle jerking with a very rapid recovery and no postictal phase
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64
Q

Resistance against which the ventricle contracts

A

Afterload

This is increased by mechanical obstruction to its outflow, negative intrathoracic pressure, and systemic vascular resistance.

This is decreased by positive pressure ventilation and medications that cause vasodilation (i.e. decrease SVR)

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65
Q

A parent with high cholesterol requests their child to be screened. The fasting lipid panel shows high triglycerides. What is the next step?

A

Repeat fasting lipid profile in 2 weeks to 3 months REGARDLESS OF RESULT
- Management will be dictated by the average of these results

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65
Q

Mechanism of injury for the most common fracture pattern seen in children

A

Fall onto an outstretched hand —> greenstick fracture

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66
Q

Electrolyte losses are estimated at ___ mEq Na and Cl and ___ mEq for K per 100mL fluid loss.

A

NaCl: 2-3mEq/100mL

K: 1-2mEq/100mL

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67
Q

A urine protein-creatinine ratio greater than ____ in a first morning sample is abnormal

A

0.2

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68
Q

Allows functional platelet to bind to connective tissue proteins (collagen types 1 and 3) to form a clot and carries factor 8 in the blood

A

Von Willebrand Factor

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70
Q

What is the Bruckner reflex - used when assessing neonates?

A

Evaluates both eyes’ retinas simultaneously

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71
Q

Corneal light reflex would show ___ displacement in esotropia

A

Temporal

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72
Q

Treatment for peritonsillar abscess

A

Drainage by needle aspiration is therapeutic; antibiotics (Unasyn or Clindamycin) are used as an adjunctive treatment after abscess (more appropriate for treatment of peritonsillar cellulitis)

Typically polymicrobial - GAS, Strep anginosus, Staph aureus, respiratory anaerobes.

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73
Q

A child has a foreign body lodged in her left nostril. Why should topical neosynephrine or oxymetazoline be used to remove the object?

A

These are topical vasoconstricting agents, which should be used 10 minutes prior to attempting removal of the foreign body. They decrease localized swelling, which improves the chances of successful foreign body removal, and decrease bleeding.

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74
Q

Most likely adverse effect in a patient who is taking warfarin and then prescribed fluconazole for candidiasis

A

Bleeding

Fluconazole decreases the metabolism of warfarin, which results in decreased reduced forms of Vitamin K and all its associated clotting factors (2, 7, 9, and 10)

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75
Q

When is developmental screening typically performed? What about screening for autism?

A

Dev screening: 9,18, and 24 or 30 months

Autism screening: 18 and 24 months

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77
Q

Unilateral swelling with sharply demarcated boundaries (not crossing suture lines) present at birth

A

Cephalohematoma; may have an underlying linear (not depressed) skull fracture

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78
Q

Fluctuant swelling that increases in size after birth, occurring more commonly with vacuum-assisted delivery, and can cross suture lines

A

Subgaleal hemorrhage

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79
Q

Which ocular finding is unique to neurofibromatosis type 2?

A

Posterior subcapsular lens opacity

Rarely progresses to a cataract

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80
Q

A patient is found to have a thyroid nodule measuring 1.5cm in the greatest dimension. What is the next step?

A

Fine needle aspiration biopsy with ultrasound guidance to evaluate for thyroid cancer

  • Any nodule greater than 1cm or risk factors for malignancy on history, physical exam, or US (such as prior head/neck radiation or FHx thyroid cancer) are indications for FNA biopsy with US guidance
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82
Q

Most common extrarenal manifestation in children with ADPKD

A

Cerebral aneurysm

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83
Q

Most frequently isolated organism in osteomyelitis

A

S. aureus

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84
Q

A 3-day-old ex-36WGA newborn is being evaluated. Birth weight was 3.5kg, and current weight is 3.1kg. Physical exam is significant for jaundice, high-pitched cry, weak suck, and mild generalized hypotonia. Moro reflex is absent.

Most likely cause?

A

Kernicterus - acute bilirubin encephalopathy

Presents in the first 2-5 days after birth.

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85
Q

Which pathways are affected if PT (prothrombin time) is prolonged?

A

Extrinsic pathway (factor 7) or common pathway (factors 2, 5, or 10)

86
Q

Mechanism of injury in subgaleal hematoma (2 possibilities)

A

1) Linear skull fracture; 2) shearing of the emissary veins between the scalp and the dural sinuses as a result of traction on the scalp during delivery

87
Q

Patient has low Mg, low K, metabolic alkalosis, and hypocalciuria. Most likely cause?

A

Gitelman syndrome - genetic mutation that causes renal Mg wasting

88
Q

A child presents with a 1-day history of vomiting and watery non-bloody diarrhea after recently visiting a large city park with a wading pool. Many people (adults and children) have had similar symptoms. What is the most likely cause?

A

Shigella sonnei

Risk factors include:

  • age = 5 years old
  • daycare attendance
  • crowded residential setting (military, dormitory)
  • men who have sex with men
  • travel to endemic low and middle-income countries where sanitation is poor
89
Q

Moderate persistent asthma is defined as FEV1 < _____ in the presence of normal FVC

A

80%

90
Q

Fraction of blood ejected from the ventricle

A

Contractility

Increased by catecholamines (epinephrine, norepinephrine, dopamine) and phosphodiesterase inhibitor milrinone

91
Q

In patients with kidney stones, which metabolite/mineral is most common in the urine?

A

High urinary concentration of calcium is most commonly identified, though also cystine, oxalate, and uric acid are associated with crystal formation

92
Q

Fishy-smelling, malodorous, thin, whitish-gray discharge

A

Bacterial vaginosis

Caused by a shift in vaginal flora due to decreased levels of lactobacilli (which normally keep the vaginal environment at a pH between 3.8 and 4.5 by producing hydrogen peroxide)

Diagnosis of BV is made when there is 3 of 4 Ansel criteria:

1) Thin white homogenous vaginal discharge that coats the vaginal walls
2) Vaginal pH > 4.5
3) Positive amine test: fishy odor when 10% KOH added to discharge
4) Presence of 20% clue cells on wet mount slides - having shaggy borders due to studding from coccobacilli

93
Q

Which score is used to assess level of joint hypermobility?

A

Beighton score

1 point for each of the following:

  • Hyperextending each knee and elbow > 10 degrees
  • Touching the thumb to the wrist while the wrist is flexed
  • Extending the pinky knuckle joint > 90 degrees
  • Touching palms to the floor without bending knees

Score > 5 is positive for hypermobility

94
Q

A child has had frequent episodes of otitis media and torticollis. Her physical exam shows a short neck with decreased cervical motion. Cervical x-rays show vertebral fusion at C1-2 and C3-4.

Most likely diagnosis

A

Klippel-Feil syndrome

95
Q

A child presents with a rash described as “discrete pink-yellow, smooth-surfaced, firm, monomorphous papules” on the buttocks. Her past medical history is significant for intermittent abdominal pain, hepatosplenomegaly, and recurrent acute pancreatitis. Which lab should be checked?

A

Check triglyceride level - likely will be elevated in the 1000s

This patient has familial lipoprotein lipase deficiency - autosomal recessive requiring biallelic pathogenic gene mutation (though family history is not alway there).

There is impaired chylomicron clearance, which results in triglyceride accumulation in the plasma, giving it a milky or lipemic appearance.

Treatment is total dietary restriction of fat to less than or = to 20 grams/day or 15% of total energy intake. Goal is triglyceride level < 1000mg/dL.

96
Q

Localized superficial edema of the scalp associated with cranial molding - present at birth, may have some bruising/swelling

A

Caput succedaneum

99
Q

An infant has a flattened midface, depressed nasal bridge, anteverted nares, bifid uvula, failed hearing screen bilaterally, and when older, is found to have severe myopia.

Most likely diagnosis?

A

Stickler syndrome

101
Q

Appropriate isolation precaution for an infant with acquired CMV

A

Universal precautions

103
Q

Method that allows communication with the child by any means available (e.g. speech, sign, gestures, writing, pictures, etc.)

A

Total language communication

104
Q

Most common compensatory mechanism of improving cardiac output in children

A

Tachycardia

105
Q

A patient presents with high blood pressure (145/100 mmHg). His labs are significant for hyperkalemia and normal BUN/Cr. He is found to have metabolic acidosis.

Most likely cause?

A

Gordon syndrome - pseudohypoaldosteronism

Increased NaCl reabsorption in the distal tubule, causing volume expansion and HTN due to diminished renin secretion —> reduced K and H excretion in the urine —> hyperkalemia and acidosis

106
Q

When a tool used in a research study measured what was expected

A

Internal validity

107
Q

Peripheral blood smear of a patient with thrombocytopenia shows giant platelets (bigger than RBCs)

A

Bernard-Soulier syndrome

108
Q

Patient presents with acute diarrhea and steatorrhea after camping trip. Friends on the camping trip have similar symptoms. Most likely cause?

A

Giardia - check stool O+P

109
Q

Method that uses signing and fingerspelling

A

Manual communication method - useful in children who have greater difficulty taking in auditory information

Uses ASL signs with English grammar conventions to facilitate reading and writing in English

111
Q

Corneal light reflex would show a ___ displacement for exotropia

A

Nasal

112
Q

Which pathways may have a deficiency if PTT (partial thromboplastin time) is prolonged?

A

Intrinsic (factors 8, 9, 11, or 12) or common pathway (factors 2, 5, or 10)

113
Q

Most common cause of sepsis in infant with Galactosemia

A

E. coli

113
Q

Most common infection in Turners

A

Recurrent acute otitis media

114
Q

A teenager has a witnessed seizure that is described as “unresponsive, lying on the floor, arms and legs jerking, then back to normal after 1 minute.” Mother had similar episodes many years ago.

Workup should include?

A

EKG to evaluate for any possible arrhythmia such as long QT syndrome

115
Q

Gold standard for diagnosis of coccidiomycosis

A

Isolation of the organism via tissue culture
- appears like mature thick-walled spherules in tissue biopsy specimens, large in size (10-80 um), containing endospores is pathognomonic of infection

116
Q

Initial study if you suspect spondylolysis

A

X-ray

117
Q

An athlete is considered functionally 1-eyed if they have CORRECTED vision of worse than?

A

20/40 in 1 eye

117
Q

A teenage soccer player is coming for evaluation of shortness of breath while running. She describes a wheezing sound when she is running, cannot take in a good breath, and sensation of tightness of her upper chest. What will be the expected appearance of her flow-volume loop?

A
  • Flattened inspiratory arm

She has exercise-induced vocal cord dysfunction or paradoxical vocal cord motion.

118
Q

Treatment for Guillain-Barre syndrome

A

IVIG

118
Q

Fracture pattern that occurs when a child’s extremity is pulled or twisted forcibly OR when a child is shaken

A

Metaphyseal corner fracture (a.k.a “bucket handle” fracture) - be concerned for child abuse!

119
Q

Common sources of E. coli O157:H7

A
  • Uncooked contaminated meat
  • Unpasteurized milk
  • Fecal contamination of produce and water
119
Q

What is the most common thyroid cancer in children?

A

Papillary thyroid carcinoma

120
Q

Low fecal elastase is indicative of ____

A

Exocrine pancreatic insufficiency

120
Q

Critically ill patient with low urine Na, hyponatremia and hypovolemia has what?

A

Hypovolemic hyponatremia

122
Q

Which ocular finding is specific to neurofibromatosis type 1?

A

Iris Lisch nodules

123
Q

A young child presents with leg pain (calf pain) and difficulty walking. He recently had a bad cold about 1 week ago. No recent history of camping or travel. Normal CBC and ESR. High CK.

Most likely etiology?

A

Benign acute childhood myositis likely following influenza infection (usually Influenza B, though A and other viruses are also associated)

124
Q

Ability of a tool to measure what was intended

A

Validity

125
Q

The presence of ___ can result in different pulse oximetry findings in different extremities, such as 88% in the right hand and 99% in the right foot (called reverse differential cyanosis)

A

Patent ductus arteriosus in the setting of transposition of the great arteries

125
Q

A child who fell while playing had an x-ray of the knee that showed a small (< 1/2 diameter of the tibia), well-defined radiolucent cortical lesion with surrounding rim of sclerosis. What is it and what should be done?

A

Non-ossifying fibroma. Provide reassurance that no treatment is needed.

126
Q

Patient who moved from El Salvador (rural setting) has been having intermittent abdominal pain for the past year. He had an episode of emesis that contained a worm. Most likely diagnosis? Method of acquiring?

A

Ascaris lumbricoides - most common human nematode or roundworm infection

Direct ingestion of soil or consumption of soil-contaminated food

128
Q

Characteristic pain of spondylolysis

A

Pain with extension of the lumbar spine; usually due to sports with repetitive forward and back bending

128
Q

Most common cause of recurrent diabetic ketoacidosis

A

Insulin omission

129
Q

Most common mode of inheritance of Alport syndrome

A

X-linked dominant

129
Q

What part of the kidney is defective in Alport syndrome?

A

Collagen type IV alpha chain - abnormal protein assembly in the basement membrane of the kidneys, ears, and eyes

129
Q

Upward lens dislocation, normal IQ

A

Marfan syndrome

129
Q

Neurodegenerative disorder with loss of motor skills, increased weakness, decreased alertness, increased startle response between 3-6 months of age with normal size liver and spleen has which specific eye finding

A

Cherry red macular spot

Tay-Sachs disease

129
Q

Firstline therapy for acute pericarditis

A

NSAIDs

  • For persistent pain or effusion, next step after NSAIDs is colchicine
129
Q

Anomalies in CHARGE Syndrome

A
  • C: coloboma
  • H: heart defect
  • A: atresia choanae
  • R: retarded growth
  • G: GU abnormality
  • E: ear anomalies

Must have 4 major or 3 major + 3 minor criteria

Caused by mutation in CHD7, inherited in AD manner

130
Q

Increased risk of developing which NONHEMATOLOGIC consequence of iron deficiency if there is excessive cow milk consumption

A

Neurocognitive changes

131
Q

How to differentiate metatarsus adductus from congenital talipes equinovarus?

A

MA - flexible adducted position of the forefoot, usually due to intrauterine positioning; WILL HAVE NORMAL ANKLE MOTION

CTE (clubfoot) - high arch, adducted position of forefoot, hindfoot varus, PLANTAR FLEXION CONTRACTURE, cannot dorsiflex affected foot; immediately refer to Ortho for casting, Achilles tenotomy, and long-term bracing (Ponseti method)

133
Q

The mother of a term newborn is found to have an ulcerative lesion on her vaginal wall. A swab of the lesion has been sent for HSV PCR. She does not have a known history of genital herpes. Her other 3rd trimester labs are negative, and the newborn is well-appearing on exam with normal CBC and ALT.

Most appropriate next step?

A

Evaluate at 24 hours of age and start empiric IV acyclovir

The risk of herpes transmission in neonates is highest in mothers with primary genital HSV infection compared to recurrent genital HSV infection.

134
Q

A child has been on long-term prophylaxis with Cefixime for ureteral reflux. Pre-operative labs show prolonged PT and PTT.

Most likely etiology?

A

Vitamin K deficiency due to alteration of gut microbiome from prolonged course of 3rd generation cephalosporin

  • Vitamin K is needed for synthesis of factors 2, 7, 9, and 10, which affects the intrinsic pathway (factor 9), extrinsic pathway (factor 7), and common pathway (factors 2 and 10). This is why both PT and PTT are prolonged.

While acquired factor 5 deficiency can occur due to anti-factor 5 antibodies or liver dysfunction, this is very unlikely.

135
Q

Most appropriate treatment for corneal abrasion

A

Antibiotic eye drops for infection prevention (add antipseudomonal coverage for someone who wears contact lenses) and oral analgesics for pain control

135
Q

Toddler presents with new-onset painful perianal diaper rash that is very erythematous and has a well-defined border

Most likely diagnosis?

A

Perianal bacterial dermatitis from Strep pyogenes or Staph aureus

136
Q

Most common cause of diabetic ketoacidosis in a patient with an insulin pump

A

Compromised infusion site

136
Q

A child has had a cough for several weeks, initially dry and now productive. He has had low-grade fevers (Tmax 38.3C), malaise, and wheezing. Vitals are within normal limits. Physical exam has crackles throughout with scattered expiratory wheezing that does not improve with albuterol treatment.

Most likely etiology?

A

Mycoplasma pneumonia or another atypical pneumonia

136
Q

Which electrolyte abnormalities can cause an ascending muscle weakness?

A
  • Hyperkalemia

- Severe hypokalemia

137
Q

Normal penis length in full-term male neonates

A

2.5 - 3.5 cm, anything less than 2 cm is considered microphallus

138
Q

What penis length is considered microphallus?

A

< 2cm

139
Q

How to determine whether a patient’s MCV is appropriate for her age?

A

Normal MCV (in a noninfant child) = approximately 72 + age in years

140
Q

Workup for asymptomatic varicocele

A

None required

Perform additional studies if there is concern for an underlying cause for the varicocele, significant discrepancy in testicular size, or marked discomfort

141
Q

How to differentiate idiopathic varicocele from secondary varicocele?

A

Examine the patient in the supine position, as idiopathic varicoceles disappear when supine while secondary varicoceles will not vary much in size based on patient position

142
Q

A patient comes in with 2 weeks of fever, fatigue, headache, and now new-onset right-sided abdominal pain. She lives on a farm and is expose to cats, dogs, horses, and cattle. On physical exam, she has RUQ tenderness and HSM. Labs are significant for normal WBC, elevated plts, and elevated ESR. Abd US shows multiple hypoechoic lesions in the liver and spleen.

Most likely diagnosis?

A

Bartonella henselae - hepatosplenic cat scratch disease

143
Q

A patient comes in with 2 weeks of fever, fatigue, headache, and now new-onset right-sided abdominal pain. She lives on a farm and is expose to cats, dogs, horses, and cattle. On physical exam, she has RUQ tenderness and HSM. Labs are significant for normal WBC, elevated plts, and elevated ESR. Abd US shows multiple hypoechoic lesions in the liver and spleen.

How to make the diagnosis?

A

Serology

This patient has hepatosplenic cat scratch disease caused by Bartonella henselae.

144
Q

Which gene is affected in craniosynostosis syndromes?

A

FGFR

Typically mutations in FGFR1, FGFR2, and FGFR3

145
Q

A newborn has an unusual head shape and foot abnormalities. The head is cone-shaped with occipital flattening, found to have craniosynostosis on CT head. He has a mitten-glove abnormality. As a child, he has intellectual disabilities.

What is the diagnosis? Which suture prematurely closed to cause his head shape?

A

Apert syndrome

Closure of the coronal suture causes the tower-shaped pattern.

Caused by FGFR2 gene mutations.

146
Q

A newborn has multiple upper extremity malformations and is found to have a congenital heart defect (atrial septal defect and ventricular septal defect). There is a family history of congenital heart disease. On physical exam, there is an abnormal carpal bone.

What is the syndrome?

A

Holt-Oram syndrome

Autosomal dominant disorder due to TBX5 gene mutations

147
Q

A child is seen for episodes of vertigo. The episodes last about 1 minute with full recovery to baseline. She has not had any recent trauma. She had 2 episodes approximately 1 month ago when a sibling had influenza and most recently an episode associated with tactile fever, cough, and rhinorrhea. There is family history of migraines. Her exam is benign with normal otologic and neurologic exams.

Most likely diagnosis?

A

Benign paroxysmal vertigo of childhood, a self-limited condition that should be managed with watchful waiting

148
Q

Which ligament, if sprained, causes medial ankle tenderness?

A

Deltoid ligament

149
Q

Which ligament, if sprained, leads to lateral ankle pain?

A

Anterior talofibular ligament

150
Q

Most common kidney tumor in children

A

Wilms tumor (aka Nephroblastoma)

151
Q

Urine protein-creatinine ratio > ___ is indicative of nephrotic syndrome

A

2.0

152
Q

Urine protein-creatinine ratio of 0.2-2.0 is indicative of ____

A

Non-nephrotic proteinuria

153
Q

What is the most important determinant of renal prognosis in idiopathic nephrotic syndrome?

A

Steroid responsiveness

Patients with frequent relapsing or corticosteroid dependence are treated with steroid-sparing medications to avoid long-term steroid complications, such as cyclophosphamide.

154
Q

A patient with HIV is exposed to a family member who is found to have varicella. The patient has a CD4+ T cell > 15%.

Should varicella vaccine be given?

A

Yes, this is the only exception. Patients with congenital or aquired T-lymphocyte immunodeficiency disorders (such as a patient who had hematopoietic stem cell transplant within the past year) should avoid live virus vaccines.

155
Q

Which risk factors are most associated with early-onset sepsis in neonates?

A
  • Gestational age (< 37 weeks or > 40 weeks)

- Maternal intrapartum fever (> 39C)

156
Q

What does likelihood ratio measure?

A

Calculated by sensitivity/(1-specificity)

Probability that an individual with disease has a positive test divided by probability that an individual with disease has a positive test result.

E.g. a patient who has a likelihood ratio of 32 means that individuals who have celiac disease are 32 times more likely to have a positive test than individuals who do not have celiac disease.

157
Q

Treatment for TCA toxicity

A

Benzodiazepines

158
Q

Why are benzodiazepines given for anticholinergic toxicity (toxidrome appearing like mad as a hatter, blind as a bat, dry as a bone, red as a beet)?

A

Provides sedation, which mitigates agitation, delirium, rigidity, hypertension, and tachycardia

May also help with hyperpyrexia

159
Q

Which tests should be ordered if you are suspicious for PKU?

A
  • Serum amino acids
  • Red blood cell dihydropteridine reductase assay
  • Urine pterin assay

Followed by: molecular genetic testing for biallelic pathogenic variants in the PAH gene, since this is an autosomal recessive disorder

160
Q

What is the term for a stress reaction through the cartilaginous calcaneal apophysis?

  • Typically occurring in pre-adolescent boys in running sports
A

Sever apophysitis

Due to competing shear stresses of:

  • Achilles tendon superiorly
  • Plantar fascia inferiorly
  • Direct ground impact from running, jumping, or high-impact activity

Initial treatment:

  • Protect the injured calcaneal growth plate with a trial of heel cushions
  • Apply ice for 10-15 minutes several times a day
  • OTC analgesics as needed
161
Q

Which tumors are associated with Beckwith-Wiedemann syndrome?

A

Embryonal tumors - Wilms tumor, hepatoblastoma, neuroblastoma

162
Q

What is the appropriate surveillance of tumors in a patient who has Beckwith-Wiedemann syndrome?

A

1) Abdominal US q3 months until age 8 years
2) Serum alpha-fetoprotein q2-3 months until age 4 years for early detection of hepatoblastoma
3) Annual renal US starting at age 8 years and mid-adolescence to assess for renaldisease

163
Q

The right of a competent person to make decisions about their own medical care that are consistent with their individual values

A

Autonomy

Children are generally not considered to be “competent” to make medical decisions, though this is more complex with adolescents. Parents are in the role of decision-makers for their children. When appropriate and based on their ability to understand the situation, children should assent to treatment.

Parental authority has limits, including situations in which the parent’s decision is clearly not in accordance with their child’s best interest.

164
Q

The duty of the clinician to act in the best interest of the patient

A

Beneficence

165
Q

The responsibility to not harm patients

A

Nonmaleficence

166
Q

The need for fairness, or equal distribution of benefit and harm, across individuals and groups

A

Justice

167
Q

What is the appropriate management of acute rheumatic fever?

A
  • Aspirin (anti-inflammatory medication)
  • Penicillin PO or IV (eradication of the streptococcal infection)
  • Treatment of carditis or heart failure with diuretics
  • In severe cases, glucocorticoids may be added, though there are not supportive studies and this is not standard of care
168
Q

How would a preschooler (age 3-5 years) respond when facing a family death?

A

Magical thinking with difficulty in separating reality and fantasy

This age group also sees themselves as the “center” of the world and often do not appropriately link cause and effect.

169
Q

How would a school-aged child (age 6-12 years) respond when faced with a family death?

A

This age group is focused on fairness, individualization (things that set them apart from others) and fact.

They may worry about their own health when confronting illness or death of a family member. Children in this age group understand the finality of death.

170
Q

How would an adolescent respond when faced with a family death?

A

Adolescents have a greater ability to think abstractly, make consider spiritual or existential ideas, and can project into the future.They may feel distress about a family member missing their life milestones. They remain self-centered in their thinking and may focus on how the family member’s death affects their life.

171
Q

How would an infant and toddler (age < 2 years) respond when faced with a family death?

A

They do not understand time or finality of death. They have difficulty with separation and change in routine and are affected by the distress of their adult caregivers.

172
Q

When reviewing a peripheral blood smear, you see tetrad forms (aka Maltese crosses). This patient recently visited Pennsylvania and now has fever, hemolytic anemia, and thrombocytopenia.

Most likely diagnosis

A

Babesia microti

This is a tick-borne zoonosis, which is more common in the northeast and upper midwestern states.

The detection of the tetrad (Maltese-cross) forms, extracellular rings, on blood smear is pathognomonic.

173
Q

Why do preterm neonates have lower hematocrit levels than term neonates?

A

They have decreased sensitivity of hepatic sensors to hypoxia, which results in slower production of EPO, which stimulates RBC production. They also have reduced iron stores since they do not receive the influx of iron stores during the 3rd trimester from their mother, which also increases RBC production.

174
Q

A patient has right ear pain, daily fevers, proptosis of the right ear, and on CT head is found to have a thrombosis of the right internal jugular vein. Which bacteria is likely causing this? What is the name of the syndrome affecting the IJ vein?

A

Fusobacterium necrophorum - anaerobic gram negative rod commonly found in the oral cavity and GI tract

Lemierre syndrome - jugular vein septic thrombophlebitis, which can lead to pulmonary emboli and cause respiratory manifestations.

Treatment: Augmentin, Unasyn, Zosyn, cefoxitin, meropenem, clindamycin, metronidazole

175
Q

In a patient who has a narrow complex, regular tachycardia, in which situation is synchronized cardioversion preferred over adenosine?

A

When there is poor cardiac output - would see hypotension and poor perfusion on physical exam

176
Q

CT head shows crescentic pattern of density that crosses suture lines but does not cross midline

A

Subdural hemorrhage - caused by tearing of the bridging veins, which drain the brain parenchyma into the dural cerebral venous sinuses

Usually due to blunt force trauma or acceleration-deceleration forces

In SDH, the blood collects under venous pressure, and accumulate more slowly than an epidural hematoma.

177
Q

CT head shows a lenticular pattern of density that does not cross suture lines

A

Epidural hematoma - blood accumulates between periosteum and dura

Since the periosteum is attached to the sutures, this hematoma does not cross suture lines.

Occurs due to blunt force, often to the temporal bone +/- skull fracture an rupture of the middle meningeal artery

178
Q

A patient has a scoliometer reading of 8 degrees. What is the next step?

A

Standing scoliosis radiographs

179
Q

What is the importance of the Cobb angle and the Risser score when looking at scoliosis films?

A

Cobb angle - degree of curvature of the spine; decision-making about referral and treatment is based upon this measure

Risser score - assessment of skeletal maturity based upon the appearance of the iliac crest apophysis

180
Q

A patient is being evaluated for scoliosis. Their Risser score is between 0 - 3. The Cobb angle is 21 degrees. What should be done?

A
  • Risser score 0 - 3: skeletally immature patient
  • Evaluate every 6 months during periods of rapid growth
  • Evaluate every 12 months when linear growth is slower until skeletal maturity

Patients who have a Risser score of 0 - 2 with curve greater than 20 degrees and that have progressed more than 5 degrees should be referred for possible treatment

181
Q

A patient (Risser score 0 - 3) is being evaluated for scoliosis and is found to have a Cobb angle of 26 degrees. What should be done?

A
  • Refer for possible bracing (curves between 25 - 40 degrees) or surgical evaluation
182
Q

A patient (Risser score 4+) is found to have a Cobb angle of 48 degrees. What should be done?

A

Risser score of 4-5 is near or at skeletal maturity. These patients with curves less than 50 degrees are at low risk of progression and do not need further evaluation or treatment as long as they remains asymptomatic.

183
Q

A patient (Risser score 4+) is found to have a Cobb angle of 60 degrees. What should be done?

A
  • Refer for surgical intervention

These patients are near or at skeletal maturity. If the curve is 50 degrees or greater, they are at risk for further progression through adulthood. Bracing does not benefit this population.

184
Q

A toddler has septic arthritis of the right knee, and he has been started on empiric antibiotics. He has had clinical improvement. You want to narrow coverage, but synovial fluid culture has no bacterial growth.

Most likely organism? How to diagnose?

A

Kingella kingae - as this is difficult to isolate on typical culture media.

It can be diagnosed on synovial fluid PCR.

Treatment: Unasyn or cephalosporin (1st - 3rd generations)

185
Q

Which inhaled monthly medication is used as prophylaxis for Pneumocystis jirovecii pneumonia?

A

Pentamidine

  • used for PJP prophylaxis for primary immune deficiency with impaired cell-mediated immunity (SCID or T-cell dysfunction), acquired immune deficiency (malignancy, hematopoietic stem cell and solid organ transplants), and HIV infection (CD4 < 200).
  • less effective than other treatment options of PJP prophylaxis such as Bactrim, atovaquone, dapsone

Chest x-ray would show a diffuse bilateral pulmonary process with bilateral perihilar infiltrates in the early phase of illness and then diffuse infiltrates later on (occasionally with lobar infiltrates or nodules). Clinical features include dyspnea, nonproductive cough, and fever, though often symptoms are subtle at onset and then progress. Physical exam has normal lung auscultation.

186
Q

Neutropenic patients are at increased risk of which fungal infection?

A

Aspergillus infections

Would have pulmonary nodules on chest imaging

187
Q

How can you determine the fluid deficit in a child who has burns?

A

Parkland formula

Fluid deficit = 4mL/kg x weight (kg) x body surface area affected

Rule of nines:

  • 18% for abdomen/chest and back
  • 9% for anterior and posterior lower extremities
  • 4.5% for anterior and posterior upper extremities
  • 1% for genitals
188
Q

Which types of burns are not included in the BSA calculation for fluid deficit?

A

Superficial burns (epidermal injury only) where they are red, painful, and do not blister

Only partial-thickness burns (epidermis and partial dermis injury), deeper partial-thickness burns (epidermis and deeper partial dermis injury), and full-thickness burns (epidermis and entire dermis including nerves) are included in the BSA calculation for the Parkland formula (4mL/kg x weight x BSA)

189
Q

Which electrolyte is abnormal in Lesch-Nyhan syndrome?

A

Uric acid is elevated

Can help to make the diagnosis if there is an abnormal urinary urate:creatinine ratio

190
Q

In a child with new diagnosis of type 2 diabetes, when should insulin be used as primary therapy?

A
  • Blood glucose >/= 250mg/dL
  • Hemoglobin A1c >/= 8.5
  • Ketosis present
  • Unclear if type 1 or type 2 diabetes

MS Flashcards (2 decks)

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