1
Q
Congenital Glaucoma vs Cataracts
A
The classic presentation of congenital or early-onset glaucoma is corneal clouding, photophobia, and chronic or intermittent tearing.
The presentation of congenital cataracts is highly variable, but findings may include asymmetric red reflex, leukocoria, nystagmus, strabismus, and photophobia.
Main difference: tearing
Nasolacrimal duct obstruction- no photophobia
2
Q
DMD Heterozygote Health Monitoring
A
Cardiac surveillance is recommended for female carriers, who may develop cardiomyopathy.
3
Q
Most common virus in children and adults with cold symptoms
A
Rhinovirus is the most frequently implicated pathogen in children and adults, accounting for almost 50% of cases of upper respiratory tract infections.
Rhinovirus infection occurs mostly in autumn through spring.
Rhinovirus is the preferred response choice given the clinical presentation of mild upper respiratory tract illness in a child returning to school after summer vacation
4
Q
Per protocol vs intention to treat analysis for randomized controlled trials
A
When intention-to-treat analysis is used in a prospective randomized controlled study, the analysis includes data from all patients who were randomly assigned to a group even if they did not complete the study. Using intention-to-treat analysis can eliminate bias that arises from additional factors, such as earlier discharge of children with mild symptoms who are not receiving treatment.
5
Q
Vitamin K in Newborns
A
Vitamin K is essential for the function of factors II, VII, IX, and X, affecting both the intrinsic and extrinsic coagulation pathways and thereby prolonging both the prothrombin time and the partial thromboplastin time.
Neonatal vitamin K deficiency bleeding can occur at any time from birth to 6 months of age and can be classified as early (within 24 hours), classical (1-7 days after birth), or late (2 weeks–6 months after birth).
6
Q
Acne Tx
A
A topical retinoid should be included in the treatment of adolescents who have moderate or severe acne.
Obstruction within follicles should be addressed, even if blackheads and whiteheads are not observed.
Extensive inflammatory acne (ie, involving the trunk, as well as the face) requires treatment with an oral antibiotic.
7
Q
Congenital Adrenal Hypoplasia Labs
A
Hyponatriemia, hyperkalemia, hypotension, dehydration
8
Q
Congenital Adrenal Hypoplasia Genes
A
DAX-1 X linked
SF1 AR
9
Q
Congenital Adrenal Hypoplasia Presentation
A
2 weeks old FTT Jaundice Hypoglycemia Emesis
10
Q
Triple A Syndrome
A
Allgrove Syndrome
AAAS gene coding for ALADIN
ACTH resistance, alacrima, and achalasia
11
Q
Cause of HTN in mineralocorticoid excess
A
Elevated 11 deoxycorticosterone (DOC)
12
Q
CYP11B1 Defects
A
11B hydroxylase
Mineralocorticoid excess, virilization in girls, hypoK, HTN
13
Q
CYP17 Defects
A
17a hydroxylase
Mineralocorticoid excess, hypoK, HTN -> Ca channel blockers
Causes cortisol and androgen deficiency-> virilization in boys and puberty failure in girls
14
Q
Liddle Syndrome
A
Inability to degrade sodium channels (eNaC) in distal nephron. Causes increased Na, low K, and HTN.
HTN with suppression of aldosterone and renin
15
Q
Adrenocortical Tumor Symptoms and Labs
A
High androgens leading to precocious puberty with secondary characteristics but small testes in males
Low LH and FSH
HTN, muscle cramps, increased thirst
16
Q
CYP21A Defect
A
Salt wasting or simple virilizing CAH
Virilization in girls
Give glucocorticoids and mineralocorticoids
Late onset - only give glucocorticoids
Dx: measure 17-hydroxyprogesterone (random or ACTH stim) for ideal screening. >10000 is classic form, ~1000 non classic
Non classical CAH - mild enzyme deficiency with excess androgens as main issue
17
Q
CYP11A1 Defects
A
Lipoid hyperplasia
Virilization in males
All enzymes are low
Give glucocorticoids and mineralocorticoids
18
Q
3BHSD2 Defect
A
Low aldosterone, cortisol, and androgens
High DHEA -> virilization of females, but since DHEA is a weak androgen, males can also have poor formation of genitalia
19
Q
Pheochromocytomas
A
VHL
RET (MEN2A and 2B)
NF1
SDHB/SDHD - head and neck paragangliomas + pheo
20
Q
Graves Disease
A
Ab against TSH receptor (thyrotropin receptor) causes increased T4
21
Q
Graves vs Subacute Thyroiditis
A
Same levels (high T4, low TSH)
Graves causes increased production of T4 and has TSI Ab
Subacute Thyroiditis has only increase T4 release not production so no increase in uptake scan
22
Q
Increased PTH Effect
A
Works bone osteoclasts and renal tubular phosphate to decrease absorption
Increases 1-25 D3 to increase gut calcium absorption
23
Q
Vitamin D Deficiency
A
Tetany
Seizures - lack of vit D in winter, then spring have sunlight which causes rapid calcium serum decrease to deposit in bones leading to hypocalcemia seizures
Rachitic Rosary
Growth Failure
Frontal Bossing
Widening and/or subluxation of wrists, knees, and ankles - cartilage not calcified causing bending and susceptibility to trauma
24
Q
Rickets Labs
A
Low phosphorus, calcium, 25-D
High PTH, alkaline phosphatase
25
Type 1 Rickets
Deficiency of hydroxylase enzyme that converts 25-D to 1,25D
| Need to give 1,25D to bypass pathway, regular vit D3 will not work
26
Type II Rickets
```
Hypophosphatemic Rickets
Phosphate leak at renal proximal tubule
AD or X linked dominant
Cannot degrade the FGF-23
Calcium normal thus normal PTH
Low phos
Normal calcium, 25-D
Low/normal 1-25D
Normal/high PTH
Need to give 3x/day phos +/- 1-25D, which can cause hypercalcuria and urine calcium needs monitoring prevent stones and scarring
```
27
Fetal Thyroid Development and Influence of Mom
Mom’s pituitary-thyroid axis does not influence thyroid development, negligible TSH and T4 cross the placenta
28
Levothyroxine in Infants
May be crushed and added to breast milk, water, formula
May not mix with soy based formulas
29
Congenital Hypothyroidism Signs and Symptoms
```
Prolonged jaundice
Umbilical hernia
Constipation
Macroglossia
Feeding problems
Distended abdomen
Hypotonia
Hoarse cry
Large posterior fontanelle
Dry skin
Hypothermia
Goiter
```
30
Euthyroid Sick Syndrome
Low T4 and T3
Low to normal TSH
In stress states, no treatment needed
31
Reuptake Iodine Scan
Increased uptake with increased production
Decreased uptake if increased release
32
Painful vs Non Painful Thyroiditis
Painful = subacute
Not painful = autoimmune
33
Subacute Thyroiditis
Painful
Decreased uptake because causes increased release not production
Anti-thyroid medications, no effect
Can use beta blockers, ASA, and glucocorticoids in extreme cases
34
Subclinical Hypothyroidism
Normal T4 and slightly elevated TSH
35
Renal Insufficiency Rickets
```
High phosphorus given limited excretion
Low calcium due to low vit D
High PTH since low calcium
Elevated BUN and Cr
Low/normal 25-vit D3
Low 1,25-D3
```
36
Hypoparathyroidism Labs
Low calcium
High phosphorus
Low to normal PTH
37
Type I vs II Pseudohypoparathyroidism
Type I: cherubism, brachydactyly/spade like hand, short stature, DD; low calcium, high phosphorus, and high PTH; 2/2 cAMP not generated properly
Type II: cAMP generated properly but some resistance that blunts renal response to PTH: may need 1,25-D3
38
mL of water per 1kg
1000mL or 1L per 1kg
39
Volume of Na distribution in extracellular fluid volume
0.6 L/kg x weight in kg
40
Maintenance Electrolyte Requirement
1 mEq of K per kg/day
2 mEq of Na per kg/day
3 mEq of Cl per kg/day
41
Equation for Estimating Free Water Excess or Deficit
(Desired Na - Current Na) x 5ml x body weight in kg
```
Positive = excess
Negative = deficit
```
42
Fractional excretion of sodium equation
FEna = ((Una x Pcr) / (Ucr x Pna)) x 100
```
<1% = dehydration
>1% = acute renal insufficiency
```
43
Nephrotic Syndrome Labs and Causes
Proteinuria
Elevated cholesterol
Edema
```
Minimal change disease
FSGS
MPGN
HSP
SLE
HUS
```
44
Nephrotic Syndrome Tx
6 weeks daily prednisone with total clearance
Difficulty with those who relapse often and consider other options such as cyclophosphamide, chlorambucil, or cyclosporine
45
Complications of Nephrotic Syndrome
Peritonitis- must be ruled out when fever and abdominal pain. S. Pneumoniae and E. coli
Vascular thrombosis or PE- sudden onset pain or color change in an extremity
46
FSGS
Very poor response to steroids
Very poor prognosis even with high dose cyclosporine and IV methylpred
High in African American males due to APOL1 gene (homozygous)
If heterozygous, protective against t. brucei, sleeping sickness
47
MPGN
Girls, around 8 years
Hematuria and HTN
Complement C3 decreased
Tx: low dose steroids (to avoid worsening HTN) every other day
Many still develop renal insufficiency
48
Congenital Nephrotic Syndrome
```
Edema
Massive protein loss
Many die of E. coli sepsis
AR
Need peritoneal dialysis and albumin infusions until renal transplant
```
49
IgA Nephropathy
Mild hematuria during acute illness, but may become gross during the illness
Bx identical to HSP
Baseline microscopic hematuria
50
Post Strep Glomerulonephritis
HTN, edema, and hematuria
51
Membranous Glomerulonephritis
Usually an infant with suspected syphilis infection or was adopted from a country where HepB carriage is high
Episodic Hematuria and persistent microscopic hematuria
52
Low C3 level Renal Diseases
Post strep Glomerulonephritis
MPGN
SLE
53
Infants < 1 year with concern for renal disease management
Renal bx to assess for diffuse mesangial sclerosis characteristic of congenital nephrotic syndrome
54
Renal Disease Dx by Age
< 1 year - congenital nephrotic syndrome
8 years and younger - minimal change disease, high cholesterol
MPGN - in teens and females
FSGS - teens in males, high cholesterol
AIN - usually drug hx
Membranous Glomerulonephritis- teens but very rare, usually adopted child or suspected congenital syphilis
55
Etiology of HTN in Childhood - 1-6 years
```
Renal parenchymal disease
Renovascular disease
Coarc of the aorta
Endocrine
Less commonly iatrogenic or essential HTN
```
56
Etiology of HTN in Childhood - 6-12 years
```
Renal parenchymal disease
Renovascular disease
Essential HTN
Coarc of the aorta
Less commonly endocrine and iatrogenic
```
57
Etiology of HTN in Childhood - 12-18years
Essential HTN
Iatrogenic
Renal parenchymal disease
Less commonly Renovascular disease, endocrine, and coarc
58
Most common cause of severe HTN
Renal artery stenosis
59
HTN Work Up
```
UA
RFP
Fasting lipids
Echo
Renal US with Dopplers
```
60
Anion Gap Formula
Na - (Cl + HCO3)
61
Acidosis with Normal Anion Gap
```
Renal loss of bicarb
RTA
Carbonic anhydrase inhibitors
Posthypocapnia
GI loss of bicarb
Diarrhea
Ileostomy drainage, fistula
Ileal conduits
Administration of cation exchange resins
Administration of acid
Arginine chloride, hydrochloric acid
Parenteral nutrition
Dilution acidosis
```
62
Difference Between Type I and Type II RTA
Reaction when giving an acid (ammonium chloride)
Type I (distal) - inability to excrete acid and cannot drive urine pH to 5.5 or lower (so >5.5)
Type II (proximal) - if low bicarb, would not be able to increase/reabsorb bicarb and urine pH is greater than 7 (initially alkaline but then <5.5)
63
Serum Osmolarity Equation
(2xNa) + (glucose/18) + (BUN/3)
64
PKU as Teratogen
IUGR
ID
Microcephaly
Structural defects - congenital heart disease
Phe is 70-80% higher in fetus as mom’s level
65
Homocystinuria
Screening: methionine
Dx: methionine and homocysteine
Defect: cystathionine beta synthase
Tx: betaine, folate, pyridoxine, or all three depending on defect; ASA for anti-coagulation
66
Galactosemia
Screening: GALT
DX: GALT electrophoresis
Tx: galactose and lactose free diet, sucrose only
67
MCAD
Screening: carnitine profile
Dx: repeat above and genetic testing
Tx: carnitine, frequent feedings, and avoid hypoglycemia
68
OTC
XLR
Screen: increased glutamine, decreased citrulline and arginine, increased urine orotic acid
Dx: AA profile, UOAs
Tx: protein restriction, citrulline, NH3 scavengers
69
Gaucher
Dx: glucocerebrosidase assay
Clinical: thrombocytopenia, excessive bleeding, pathologic fx, mild to severe ID (types II/III)
Defect: B glucosidase
Tx: symptomatic, ERT
70
Tay Sachs
Dx: hexoaminidase A assay
71
Hurler
MPS I
Screening: quantitative urinary MPS
Dx: iduronidase
Tx: stem cell replacement, ERT
72
Hunter
```
MPS II
only MPS inherited as XLR
Screen: urinary MPS
Dx: iduronate sulfatase deficiency
Tx: stem cell/ERT
```
73
Metabolic Acidosis DDX Chart
No gap: GI, renal, CAH, galactosemia
Gap:
- Hypoglycemia:
— Hyperammonia - if ketones, OAs; if no ketones, FAOD/OAs
— Ammonia normal - AA/CHO/OAs
- Glucose Normal
— Ammonia normal - OAs
— Hyperammonia - UCDs/AA/OAs
74
Holt Oram Syndrome
```
Heart Hand
Congenital heart disease ASD>VSD
Finger like or absent thumb
Radial hypoplasia
TBX5 transcription factor
```
75
Thanatophoric Dysplasia
AD
Short limbs, curved long bones, narrow thorax-> lung hypoplasia -> death
FGFR3
76
Goldenhar Syndrome
Sporadic
Hemifacial microsomia (some bilateral), external and middle ear anomalies, micrognathia, epi bulb ar dermoids, colobomata, cervical spine anomalies
Conductive hearing loss, FTT, ID (10%), CHD (10%), cleft palate (10%)
Stapedial artery disruption leading to first and second branchial arch hypoplasia
Common features with Treacher Collins but TC is symmetric and AD
77
Russell- Silver
Sporadic, can be AD/AR/maternal UDP for chromosome 7 in 10%
Prenatal or postnatal growth decline, macrocephaly, large fontanelle, blue sclerae, triangular face, limb asymmetry
Hypoglycemia in infants and toddlers
78
Cornelia de Lange
Nipped B like gene also called delangin
79
Rett Syndrome
XLD
| MECP2 gene
80
CHARGE
```
Coloboma
Heart
Choanal atresia
Retarded growth
GU
Ear
```
81
VACTERL
```
Vertebral
Anal
Cardiac
TE fistula/esophageal atresia
Renal
Limb
```
82
Klippel Feil Anomaly
Sporadic, can be AD/AR
Short, webbed neck, cervical vertebral fusion, some with hearing loss, laryngeal deformities, CHD, rib anomalies, upper limb defects, GU
Genetically heterogeneous, some due to growth factors 3 or 6
DDX: basal nevus syndrome, Wildervanck
83
Smith Magenis
17p11 deletion
84
Trichorhinophalangeal Syndrome
8q24 deletion
85
Miller Dieker
17p13 deletion
86
Celiac vs UC markers
US - pANCA
Celiac - ASCA, anti-endomysial Ab and TTG
87
Low C3
Post strep GN
MPGN
SLE
88
Membranous GN
Adopted or immigrant children with potential Hep B or syphilis infection
Present with gross and microscopic hematuria
89
Caput succedaneum
Pressure of the fetal head on the cervix during labor; causes decreased blood flow to the area and results in edema
May cross suture lines
Usually present at birth; does not progress and resolves in 48-72 hours. Complications are rare.
90
Cephalohematoma
Subperiosteal hemorrhage, Occasionally severe; coagulopathy suspected
Does not cross suture lines
Increases after birth for 24-72 hours and resolves within 2-3 weeks; not always evident immediately after birth
Complications: intracranial bleed, jaundice
91
Subgaleal hemorrhage
Suture diastasis; ruptured emissary vein caused by fragmentation of parietal bone; skull fracture, vacuum assisted delivery
can extend to orbits and neck
Progressive after birth and resolves within 2-3 weeks
May be massive, especially if coagulopathy is present -> hypovolemic shock
92
Bartter Syndrome
Children with Bartter syndrome are often seen with failure to thrive, lethargy, polydipsia, polyuria, dehydration, hypotonia, and developmental delay
autosomal recessive condition characterized by hypokalemia, excessive renal wasting of sodium chloride, and metabolic alkalosis due to reduced activity of one of several electrolyte transporters in the ascending loop of Henle.
93
Highest risk of transmission for Hep B (Ag and Ab)
HBsAg + and HBeAg+
The presence of HBsAg implies either an acute (<6 months) or chronic (≥6 months) infection in the mother. The presence of HBeAg indicates a high level of transmissibility. For a mother positive for both HBsAg and HBeAg, the risk of perinatal transmission is as high as 90%.
94
First line test to confirm nephrolithiasis
US
95
First leukocoria referral
Ophthalmology must confirm suspicion of retinoblastoma first
96
Classic KD Treatment
Priority is 2g/kg IVIG
Second is high dose acetylsalicylic acid, 80-100 mg/kg per day
97
Classic KD Criteria
Classic Kawasaki disease is diagnosed when a child has fever for 5 or more days and at least 4 of the following 5 clinical findings:
Erythema and cracking of the lips, strawberry tongue, and/or erythema of oral and pharyngeal mucosa
Bilateral bulbar conjunctival injection without exudate
Maculopapular diffuse erythematous or erythema multiforme-like rash
Erythema and edema of the hands and feet in acute phase and/or periungual desquamation in subacute phase
Cervical lymphadenopathy (≥1.5-cm diameter), usually unilateral
98
Black widow vs Brown recluse bite
Black widow = systemic symptoms
Brown recluse = localized symptoms
Black widow spider venom is neurotoxic. Signs and symptoms begin suddenly, and may include nausea, vomiting, pain and pallor at the bite site, paresthesias, tenderness in regional lymph nodes, sweating, abdominal pain, and muscle cramping.
Severe signs and symptoms of a black widow spider bite include muscle rigidity, difficulty speaking, ptosis, agitation, hypertension, and respiratory distress.
Brown recluse spider venom is a cytotoxin that produces localized effects; systemic symptoms are rare. Treatment is aimed at localized wound care.
99
Thyroid Nodules
Fine-needle aspiration and biopsy of a thyroid nodule is indicated if the thyroid-stimulating hormone level is not suppressed and the nodule is ≥1 cm in size with a solid component, or suspicious features are present on ultrasonography (hypoechogenicity, irregular margins, increased intranodular blood flow, microcalcifications, abnormal cervical lymph nodes).
If the TSH level is suppressed, the best next step would be nuclear thyroid scintigraphy to evaluate for a hyperfunctioning nodule.
Reassurance and repeat ultrasonography in 6 to 12 months may be appropriate for thyroid nodules that are cystic or small (<1 cm) and without suspicious features on ultrasonography.
100
DDX bloody diarrhea
The differential diagnosis of amoebic colitis includes invasive bacteria that cause bloody diarrhea
Shigella
Salmonella
Campylobacter
Yersinia
Shiga toxin–producing E coli,
Enteroinvasive E coli)
Amoebic colitis may mimic inflammatory bowel disease or acute appendicitis.
101
DDX Watery Diarrhea
Giardia
ETEC
Cholera
102
Predictors of BPD and neurocognitive outcomes in the NICU
The severity of bronchopulmonary dysplasia is defined by the level of respiratory support required at 36 weeks’ postmenstrual age or hospital discharge, whichever comes first.
The functional classification of bronchopulmonary dysplasia based on respiratory support is a risk factor for death and adverse respiratory or neurodevelopmental outcome at less than 2 years of age.
Risk factors for development of bronchopulmonary dysplasia include birth weight <1,100 g, estimated gestational age <26 weeks, male sex, prenatal and postnatal infection, high initial oxygen need, and receipt of multiple surfactant doses.
103
Acute cervical lymphadenitis treatment
Acute cervical lymphadenitis due to a secondary bacterial infection following a viral infection
Staphylococcus aureus, Streptococcus pyogenes, other Streptococcus species, and anaerobes
Ampicillin/sulbactam or clindamycin are recommended as first-line treatment for uncomplicated bacterial acute cervical lymphadenitis. If there is no improvement with first-line therapy, or the child is critically ill, treatment with parenteral ceftriaxone and vancomycin is indicated.
104
PPX for H. flu type b meningitis
In cases of Haemophilus influenzae type b meningitis, rifampin prophylaxis is recommended for all household members, including adults, if the household has a child younger than 4 years who is not fully immunized
105
Wilms Tumor US Intervals for WAGR, Denys Drash, and BWS
Children with these syndromes require screening abdominal sonography every 3 months until 8 years of age for Beckwith-Wiedemann and until 5 years for Denys-Drash and WAGR
106
STEC
Shiga toxin producing E coli serotype 0157:H7 have been linked to petting zoos, contaminated drinking water, and recreational water. Person-to-person spread of STEC infection occurs frequently, and has resulted in outbreaks of gastroenteritis in households and day care centers.
Can be initially non-bloody but then develops bloody diarrhea, hyponatremia, HUS
The classic manifestations of HUS include the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal insufficiency
Incubation time is 3-4 days
107
EPEC
Enteropathogenic E coli
Watery diarrhea
The incubation period 6 to 48 hours.
Common in infants and young children residing in countries where sanitation is poor and transmission occurs via contaminated water.
108
ETEC
Enterotoxigenic E coli (ETEC)
Watery diarrhea
The incubation period is 6 to 48 hours.
Common in infants and young children residing in countries where sanitation is poor and transmission occurs via contaminated water.
Frequent cause of traveler’s diarrhea
109
EIEC
Diarrhea due to enteroinvasive E coli is often watery (without blood or mucus) and associated with fever; dysentery may occur in some cases.
110
Ascaris lumbricoides
tropical climates
abdominal pain, anorexia, watery diarrhea
characteristic appearance of the fertilized eggs on microscopic examination of a stool specimen (oval shape surrounded by a thick shell with an external proteinaceous layer
Tx: Albendazole, repeat stool cx 2 weeks then 2-3 months
111
Hookworms
Necator americanus, Ancylostoma duodenale, trichuriasis/whipworm
Consider in immigrant or refugee children who present with chronic abdominal symptoms
Moderate to severe hypochromic, microcytic anemia.
Eggs are oval or ellipsoidal with a thin shell
Often presents with dysentery syndrome mimicking inflammatory bowel disease with bloody diarrhea, mucus, tenesmus, and abdominal pain. Rectal prolapse commonly occurs.
The whipworm eggs are barrel-shaped with a thick shell and the appearance of a pair of “plugs” at each end
112
Epiglottitis Tx
Rapid sequence intubation first
coverage for H influenzae type b and methicillin-resistant S aureus should be initiated. One suggested antimicrobial regimen is a third-generation cephalosporin (eg, ceftriaxone or cefotaxime)
113
Pertussis PEP
Pertussis postexposure prophylaxis with azithromycin is recommended for all close contacts of the index case irrespective of immunization status.
Household + those within 3 feet of a symptomatic individual in a childcare facility, school, or health care setting
114
Cold induced urticaria
Children with cold-induced urticaria should be prescribed an epinephrine auto-injector because of the risk of anaphylaxis
115
Anticholinergic overdose treatment
Classic anticholinergic findings (seizure; respiratory depression; dilated pupils; dry, flushed skin; tachycardia; and arrhythmia) caused by an overdose of amitriptyline, a tricyclic antidepressant (TCA). The treatment for TCA-induced, wide complex ventricular tachycardia and resulting hypotension is administration of intravenous sodium bicarbonate, with the goal of raising the serum pH to approximately 7.5.
116
Weight gain without stature decline
More likely to be dietary
Hypothyroidism or other hormonal issues would likely cause decline in height percentiles
117
HIV Testing
Preferred: fourth-generation HIV-1/HIV-2 antigen-antibody combination immunoassay
The HIV DNA PCR test is preferred for HIV in perinatal HIV-exposed infants younger than 18 months (given the persistence of transplacental maternal antibodies in the infant)
An HIV RNA assay may be indicated in individuals with suspected acute HIV infection (acute retroviral syndrome) and negative antibody test results
Acute retroviral syndrome = fever, lymphadenopathy, pharyngitis, rash, myalgia, arthralgia or gastrointestinal symptoms
118
Case control vs cohort
Cohort - forward focused
Case control - looking back
A cohort study begins with the exposure (or risk factor); the cohort is observed over time for the development of the outcome of interest. In contrast, a case-control study begins with the outcome and looks back in time for the exposure/risk factor. A case-control study design is useful when the disease outcome is rare because it begins with the selection of a population with the outcome of interest. The case population has evidence of the outcome of interest, whereas the control population does not. An example of a case-control study is a study of children with asthma (cases) compared with children without asthma (controls); the study looks at whether the parents have a history of asthma (risk factor).
119
Colic Rome IV Criteria
younger than 5 months at the start and end of symptoms and that the crying must last at least 3 hours per day for at least 3 days of a week
120
vWD I vs 2B
I = tx with desmopressin
2B = causes thrombocytopenia, DO NOT use desmopressin as can make this worse; tx with complement factor injection
121
Types of Reliability in Research
Test-retest reliability: measures the ability of an instrument or tool to produce the same results with repeated measurements. Administration of the tool to the same individual or sample group and comparison of those results provides a measurement of test-retest reliability.
Interrelater reliability: measures the ability of 2 individuals to independently produce the same results. For example, are the results from the depression screening tool the same when administered by 2 different individuals?
Internal consistency reliability: is a measure of how consistent the items within a single instrument are with each other.
122
Types of Internal Validity
Internal = within a practice or small population
External = general population
Convergent validity: compares 2 ways of measuring the same thing to determine if they obtain the same result. For example, the project in the vignette was designed to measure whether the shorter screening tool yielded the same results as the longer standardized clinical interview.
Predictive validity: evaluates the accuracy of a tool to measure a future event or outcome. For example, the pediatric practice could perform a chart review of all adolescents screened for depression using the new screening tool and determine how many developed a depressive episode within a specified time period.
123
Viral Conjunctivitis and most common strains
Viral conjunctivitis typically begins unilaterally and may spread to the other eye. The eye discharge is watery or mucoid. There is often a concurrent viral infection. Adenovirus is the most common viral etiology in children. Subtype 7 is associated with pharyngoconjunctival fever. Coxsackie virus A24 is associated with an acute hemorrhagic conjunctivitis that is often accompanied by fever and headache.
124
DTaP, Tdap, Td
During childhood, a total of 6 doses of a pertussis-containing vaccine are recommended: diphtheria, tetanus, pertussis (DTaP) in a 5-dose series, typically at ages 2, 4, 6, and 15 to 18 months, and 4 to 6 years; and 1 dose of tetanus, diphtheria, pertussis (Tdap) at age 11 to 12 years.
For children and adolescents aged 7 to 18 years who are not fully vaccinated against tetanus, diphtheria, and pertussis, the preferred first vaccine in the catch-up series is tetanus, diphtheria, pertussis (Tdap).
Children aged 7 to 9 years who receive Tdap as a catch-up dose should also receive the routine adolescent dose of Tdap at age 11 to 12 years. Children aged 10 years who receive Tdap do not need the routine dose of Tdap at age 11 to 12 years.
125
Pyogenic Arthritis
Children with pyogenic arthritis usually present with fever
+/-Swelling, warmth, and tenderness of the affected joint may be noted.
External signs of inflammation may be absent in pyogenic arthritis of the hip joint
Affected infants and children may rest in a frog-legged position (ie, abduction and external rotation).
Dx with US
Criteria:
Non-weight bearing
Temperature >38.5°C
Erythrocyte sedimentation rate >40 or CRP >0.25 mg/dL (>2.5 mg/L)
WBC >12,000/μL (12.0 × 109/L)
Urgent orthopedic consultation, surgical drainage, and irrigation of the hip joint space is required given the risk of aseptic necrosis of the femoral head
Tx: clinda or vanc
126
Gallstones
If fever or elevated WBC, cholangitis
Dx with US but magnetic resonance cholangiopancreatography may be indicated in children when ultrasonography demonstrates dilation of the common bile duct without evidence of cholelithiasis
127
BRUE - Criteria for low risk
Criteria for lower-risk BRUE include (all criteria must be met):
Age >60 days
Gestational age ≥32 weeks
Single episode without recurrence (first ever and not occurring in clusters)
Duration <1 minute
No cardiopulmonary resuscitation required by a trained medical professional
No concerning historical features
No concerning physical examination findings
128
Clubfoot management
refer to orthopedic surgeon
DO NOT get XRs
129
Cavernous Malformation vs AVM
On MRI, cavernous malformations have a “popcorn” or “mulberry-like” cluster of tiny blood vessels with surrounding hemosiderin deposits. Unlike AVMs, there is no intervening brain parenchyma.
AVMs can be associated with HHT
130
Hyperlipidemia
The first line-intervention for children with hyperlipidemia is healthy lifestyle change.
Pharmacologic therapy with statins is recommended to treat hyperlipidemia in those who do not achieve low-density lipoprotein cholesterol goals (defined by risk stratification) after lifestyle modification.
Statin therapy >10 years
LDL >160 unless high risk then >130
131
PDA Pharm Closure
1st line: indomethacin or NSAIDs - inhibit COX1 and decrease PG syntehesis
Contraindications to pharmacological management with NSAIDs include oliguria, necrotizing enterocolitis, bleeding disorders and currently receiving steroid therapy. In these situations acetaminophen can be considered.
132
Pompe vs Fabry
Clinical features of IOPD (infantile onset) include marked hypotonia, failure to thrive, and hypertrophic cardiomyopathy within the first year after birth. Clinical features of LOPD (late onset) include proximal muscle weakness with respiratory insufficiency, without cardiac involvement.
Fabry presents with sweating abnormalities, severe pain crises in the extremities, corneal and lenticular opacities, vascular cutaneous lesions (angiokeratomas), cardiomyopathy, and renal failure.
133
Biggest predictors of asthma persisting through adulthood
Obesity (esp rapid weight gain) and vitamin D deficiency are predictors of persistent asthma into adolescence and adulthood
134
Similarity of PCN to Cephalosporins
Aminocephalosporins (cephalexin, cefadroxil, cefprozil, and cefaclor) have a similarity score of 1, with the highest risk of cross-reactivity (approximately 16%).
Cephalosporins with a similarity score of <0.4 (cefazolin, cefuroxime, cefixime, cefotaxime, ceftriaxone, ceftazidime, cefpodoxime, ceftibuten, and cefepime) have the lowest risk of cross-reactivity (approximately 2%).
135
Myastenia Gravis Management
Intravenous immunoglobulin or plasmapheresis are the standard of care for treating an acute exacerbation or myasthenic crisis
Chronic treatment includes the administration of acetylcholinesterase inhibitors (pyridostigmine) to prolong the presence of acetylcholine in the neuromuscular junction and immunosuppressive medications (eg, prednisone).
All children and adolescents with juvenile MG should undergo computed tomography of the chest to assess for thymoma or thymic hyperplasia. Even in the absence of thymus pathology, thymectomy has been demonstrated to improve remission rates for juvenile MG.
136
Burn Management
All superficial burns can be treated at home, regardless of extent.
Partial-thickness burns involving more than 10% of a child’s body surface area require hospitalization for management of fluids, pain, infection, and calorie intake.
Full-thickness burns of any degree should be referred for evaluation at a pediatric burn center.
Higher-risk areas of the body are better treated at a specialized burn center, including partial- or full-thickness burns to the face, hands, feet, genitalia, and perineum, as well as burns that cross joints.
137
Prediabetes Testing and Risk Factors
screening for prediabetes in children and adolescent older than 10 years of age who are overweight or obese and have at least one of the following risk factors:
-maternal history of gestational diabetes during the child’s gestation
-family history of type 2 diabetes in 1st- or 2nd-degree relatives
-signs of insulin resistance or conditions associated with insulin resistance, specifically acanthosis nigricans
-hypertension
-dyslipidemia
-polycystic ovarian syndrome
-SGA at birth
138
Lice Tx
First-line treatment options for lice include 1% permethrin lotion or pyrethrin + piperonyl butoxide shampoo, both of which are safe, over-the-counter options.
Options for treating resistant cases of lice include 0.9% topical spinosad suspension or topical ivermectin for children older than 6 months. For children older than 6 years, topical malathion may also be considered.
139
EKG Findings and Symptoms for ALCAPA
Increased voltages due to left ventricular dilation
ST-segment elevation or T-wave changes consistent with ischemia
Deep q waves in leads I and AVL (suggesting a prior myocardial infarction)
Symptoms of anomalous origin of the left coronary artery (ALCAPA) may mimic common benign infant conditions (eg, gastroesophageal reflux, formula intolerance, colic).
Infants with anomalous origin of the left coronary artery (ALCAPA) may present with relatively subtle symptoms that become more clinically apparent at times of metabolic stress (eg, viral infections).
Infants with anomalous origin of the left coronary artery (ALCAPA) require urgent surgery after stabilization, to avoid ongoing myocardial ischemia and worsening cardiac dysfunction.
140
Diaper Derm - Fungal
Involvement of skin convexities and inguinal creases, satellite lesions expanding beyond the area of the rash, and scaling at the margins
Recent exposure to antibiotics may predispose infants to developing a candidal diaper rash
Tx: topical antifungal cream or ointment (eg, clotrimazole, nystatin).
141
TSB in Newborns
Peaks at days 4-5
TSB can be 17/18 (max)
If lower, ensure proper caloric intake especially if still having dark tarry stools instead of seedy (indicates not enough intake)
If higher, consider phototherapy:
15 mg/dL at 25-48 hours old
18 mg/dL at 49-72 hours old
20 mg/dL older than 72 hours
142
VZV PEP
Candidates for varicella immunoglobulin include the following:
-A newborn whose mother develops varicella infection within 5 days before or 2 days after delivery
-An immunocompromised child who cannot receive live vaccines
-A pregnant individual
Candidates for varicella vaccine include the following:
-Otherwise healthy unvaccinated adolescents and children > 12 months for whom live vaccines are not contraindicated, within 3 to 5 days after exposure
Candidates for antivirals (valacyclovir preferred over acyclovir) include the following:
-Adolescents or mildly immunocompromised children, within 7 days of exposure
143
Anti-HTN during Pregnancy
treatment of hypertension during pregnancy include labetalol, nifedipine, calcium-channel blockers, and diuretics
144
Hep B + Mothers - Infant Care
All infants with HBsAg-positive mothers are recommended to be screened between 9 and 12 months for both HBsAg and anti-HBs.
If the anti-HBs (Ab) is below a protective concentration, the infant should receive an additional HB vaccine and be retested 1 to 2 months later.
If the infant’s anti-HBs (Ab) concentration remains negative after the 4th dose, they should receive 2 additional doses of HB vaccine 8 weeks apart and be retested for HBsAg and anti-HBs.
If their HBsAg test result is positive, the infant should be diagnosed with chronic HB, with a treatment goal of preventing disease progression.
145
Chediak Higashi
Immunodeficiency, oculocutaneous albinism, and coagulopathy (easy bruising)
Increased risk for hemophagocytic lymphohistiocytosis
146
hypo level for early nursery d/c
>3.4 of the light level, can d/c with PCP follow up in 24 hours
<3.4 of light level then would need to stay and have serial bilirubin levels
147
Parvo Tx
For healthy - supportive care
Immunocompromised/RBC dz - IVIG
148
Peanut Intro for Severe Eczema or Egg Allergic Infants
Infants with severe eczema or egg allergy are considered to be at high risk for peanut allergy. Peanut-specific allergy testing is recommended before the introduction of peanut-containing foods in these infants.
149
Imaging for Developmental Dysplasia of the Hips
<6 weeks, imaging is generally not recommended
6 weeks to 6 months, hip ultrasonography
6 months or older, pelvic radiography
Use Galeazzi sign (uneven knees) for greater than 4 months
Ortolani and Barlow up to 4 months
A positive Barlow test finding reveals that an infant has instability of the hip(s), whereas a positive Ortolani indicates hip dislocation
150
Sacrococcygeal pits
coccygeal dimples measuring ≤5 mm in diameter and located within 2.5 cm of the anus are associated with a low risk for having underlying spinal dysraphism and do not require investigation.
151
Mild to Moderate Acne Tx
The preferred systemic antibiotics are tetracyclines (tetracycline, doxycycline, minocycline), which are bacteriostatic. Tetracyclines should not be used for children under 9 years of age due to the risk of teeth staining; erythromycin may be used in this age group, however, C acnes has a high rate of resistance. Potential side effects of minocycline include photosensitivity and, rarely, pseudotumor cerebri.
Topical abx should be paired with benzoyl peroxide to prevent long term resistance
Oral isotretinoin can be considered in severe cases of acne with inflammatory lesions
152
Breastfeeding Special Considerations with Infectious Etioloigies
Infections transmitted by direct contact with lesions on the breast require careful consideration. Individuals with active herpetic lesions on the breast should avoid breastfeeding from the affected breast and should discard milk pumped from that breast until lesions resolve. Breastfeeding or pumping from the opposite breast, if there are no active lesions on that breast, is safe as long as the affected breast is covered
Pumping and breastfeeding contraindicated: HIV, human T-cell lymphotrophic virus I or II, or ebola virus
153
Neonatal Hyperthyroidism
Treatment with methimazole +/- ꞵ-blocker is the standard of care. Propylthiouracil is not recommended for treatment of pediatric hyperthyroidism due to concern for hepatotoxicity; it is only used in pediatrics during the first trimester of pregnancy due to birth malformations associated with methimazole use.
154
O2 Sats and FiO2 in NRP
By 10 minutes, sats should be between 85-95%
>35 weeks, FiO2 21%
<35 weeks, FiO2 21-30%
155
RR of Robertsonian Translocation
4% of T21 cases -> 30% are inherited by the parent
For translocations that involve chromosomes 13, 14, 15, or 22, the RR is 10% to 15% if the mother is the carrier; it is 2% to 5% if the father is the carrier.
For translocations between 2 chromosomes 21, the RR is always 100%.
156
Extended Spectrum Cephalosporins
Cefaclor
Cefdinir
Cefixime
Cefotaxime
Ceftriaxone
157
2nd Generation Anti-Psych Meds
Risperidone
Aripriprazol
Treatment for all ages for schizophrenia
Monitor fasting blood glucose, hemoglobin A1c, fasting lipid levels at 3 months, 6 months, and annually
158
Normal Lab Values in Neonates
Bicarb 18-22
Cr 0.8-1
K 3.5-6
Phos 4.5-9
159
Transudate vs Exudate
Exudative effusions are more likely to be complex:
Fluid pH <7.2
Proteinaceous fluid–to–serum protein ratio of >0.5
fluid–to–serum lactate dehydrogenase ratio of >0.6
Lactate dehydrogenase >1,000 U/L
Glucose <40 mg/dL or <25% of the serum value
Positive Gram stain or microbial culture result
Presence of loculations or septations on imaging
160
ROP Screening
Babies BW <1500g or <30w should be screened at 4 weeks or 31 weeks corrected, whichever is later
BW 1,500 g and 2,000 g or >30 weeks at high risk for ROP such as a history of hypotension requiring inotropic support, having received oxygen supplementation for more than a few days, or having received oxygen without saturation monitoring
161
Inhibit RNA-dependent bacterial protein synthesis by binding to the 50 S ribosomal subunit
Macrolides (eg, azithromycin), clindamycin, and linezolid
162
Inhibit RNA-dependent bacterial protein synthesis by binding to the 30 ribosomal subunit
Aminoglycosides (eg, gentamicin) and tetracyclines (eg, doxycycline)
163
Beta Lactam Abx
penicillins, cephalosporins, carbapenems, and monobactam
164
Silver Russell
pre- and postnatal growth delay, limb-length asymmetry, feeding difficulties, and normal head circumference. Other features include developmental delay, fifth finger clinodactyly, frontal bossing, triangular facies, and skin pigmentary changes
165
Sotos
facial features (broad forehead, sparse hair, downslanting palpebral fissures, long and narrow face), overgrowth (height and/or head circumference), and developmental delay
166
Optimal Drowning Outcome Factors
Submersion < 5 minutes
Ice water
Other factors not important. ROSC before arrival to the ED is better prognosis
167
Preventive Migraine Meds
There are 4 main classes of preventive medications:
Antihistamines (eg, cyproheptadine)
Antiseizure medications (eg, topiramate)
Antihypertensives (eg, propranolol)
Antidepressants/anxiolytics (eg, amitriptyline)
168
Abortive Migraine Tx
Rest
Hydration
Nonsteroidal anti-inflammatory medications or acetaminophen (both are first-line)
Triptan medications alone or in combination with a nonsteroidal anti-inflammatory medication (for refractory cases)
Antiemetics may be used as an adjunct for significant nausea and/or vomiting
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