Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pediatrics Boards > CCF Review > Flashcards

CCF Review Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

DMD Heterozygote Health Monitoring

A

Cardiac surveillance is recommended for female carriers, who may develop cardiomyopathy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Congenital Adrenal Hypoplasia Labs

A

Hyponatriemia, hyperkalemia, hypotension, dehydration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Congenital Adrenal Hypoplasia Genes

A

DAX-1 X linked

SF1 AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Congenital Adrenal Hypoplasia Presentation

A 
2 weeks old
FTT
Jaundice
Hypoglycemia 
Emesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Triple A Syndrome

A

Allgrove Syndrome
AAAS gene coding for ALADIN
ACTH resistance, alacrima, and achalasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cause of HTN in mineralocorticoid excess

A

Elevated 11 deoxycorticosterone (DOC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

CYP11B1 Defects

A

11B hydroxylase

Mineralocorticoid excess, virilization in girls, hypoK, HTN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

CYP17 Defects

A

17a hydroxylase
Mineralocorticoid excess, virilization in girls, hypoK, HTN -> Ca channel blockers
Causes cortisol and androgen deficiency-> virilization in boys and puberty failure in girls

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Liddle Syndrome

A

Mineralocorticoid excess due to epithelial sodium channel activation causing absorption of sodium

HTN with low aldosterone and renin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

CYP11A1 Defects

A

Lipoid hyperplasia
Virilization in males
All enzymes are low
Give glucocorticoids and mineralocorticoids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Pheochromocytomas

A

VHL
RET (MEN2A and 2B)
NF1
SDHB/SDHD - head and neck paragangliomas + pheo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Graves Disease

A

Ab against TSH receptor causes increased T4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Rickets Labs

A

Low phosphorus, calcium, 25-D

High PTH, alkaline phosphatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Type 1 Rickets

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Type II Rickets

A 
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Fetal Thyroid Development and Influence of Mom

A

Mom’s pituitary-thyroid axis does not influence thyroid development, negligible TSH and T4 cross the placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Levothyroxine in Infants

A

May be crushed and added to breast milk, water, formula

May not mix with soy based formulas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Congenital Hypothyroidism Signs and Symptoms

A 
Prolonged jaundice 
Umbilical hernia
Constipation
Macroglossia 
Feeding problems
Distended abdomen
Hypotonia
Hoarse cry
Large posterior fontanelle
Dry skin
Hypothermia
Goiter
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Euthyroid Sick Syndrome

A

Low T4 and T3
Low to normal TSH
In stress states, no treatment needed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Reuptake Iodine Scan

A

Increased uptake with increased production

Decreased uptake if increased release

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Painful vs Non Painful Thyroiditis

A

Painful = subacute

Not painful = autoimmune

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Neonatal Graves Disease

A

Give methinazole to suppress thyroid completely

Once T4 suppressed, add levothyroxine

Stop both at same time around 6 months of treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Subacute Thyroiditis

A

Painful
Decreased uptake because causes increased release not production
Anti-thyroid medications, no effect
Can use beta blockers, ASA, and glucocorticoids in extreme cases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Subclinical Hypothyroidism

A

Normal T4 and slightly elevated TSH

36
Q

Renal Insufficiency Rickets

A 
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
37
Q

Hypoparathyroidism Labs

A

Low calcium
High phosphorus
Low to normal PTH

38
Q

Type I vs II Pseudohypoparathyroidism

A

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

39
Q

mL of water per 1kg

A

1000mL or 1L per 1kg

40
Q

Volume of Na distribution in extracellular fluid volume

A

0.6 L/kg x weight in kg

41
Q

Maintenance Electrolyte Requirement

A

1 mEq of K per kg/day
2 mEq of Na per kg/day
3 mEq of Cl per kg/day

42
Q

Equation for Estimating Free Water Excess or Deficit

A

(Desired Na - Current Na) x 5ml x body weight in kg

Positive = excess
Negative = deficit
43
Q

Fractional excretion of sodium equation

A

FEna = ((Una x Pcr) / (Ucr x Pna)) x 100

<1% = dehydration 
>1% = acute renal insufficiency
44
Q

Nephrotic Syndrome Labs and Causes

A

Proteinuria
Elevated cholesterol
Edema

Minimal change disease 
FSGS
MPGN
HSP
SLE
HUS
45
Q

Nephrotic Syndrome Tx

A

6 weeks daily prednisone with total clearance
Difficulty with those who relapse often and consider other options such as cyclophosphamide, chlorambucil, or cyclosporine

46
Q

Complications of Nephrotic Syndrome

A

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

47
Q

FSGS

A

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

48
Q

MPGN

A

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

49
Q

Congenital Nephrotic Syndrome

A 
Edema
Massive protein loss
Many die of E. coli sepsis
AR
Need peritoneal dialysis and albumin infusions until renal transplant
50
Q

IgA Nephropathy

A

Mild hematuria during acute illness, but may become gross during the illness

Bx identical to HSP

Baseline microscopic hematuria

51
Q

Post Strep Glomerulonephritis

A

HTN, edema, and hematuria

52
Q

Membranous Glomerulonephritis

A

Usually an infant with suspected syphilis infection or was adopted from a country where HepB carriage is high

Episodic Hematuria and persistent microscopic hematuria

53
Q

Low C3 level Renal Diseases

A

Post strep Glomerulonephritis
MPGN
SLE

54
Q

Infants < 1 year with concern for renal disease management

A

Renal bx to assess for diffuse mesangial sclerosis characteristic of congenital nephrotic syndrome

55
Q

Renal Disease Dx by Age

A

< 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

56
Q

Etiology of HTN in Childhood - 1-6 years

A 
Renal parenchymal disease 
Renovascular disease
Coarc of the aorta
Endocrine
Less commonly iatrogenic or essential HTN
57
Q

Etiology of HTN in Childhood - 6-12 years

A 
Renal parenchymal disease
Renovascular disease
Essential HTN
Coarc of the aorta
Less commonly endocrine and iatrogenic
58
Q

Etiology of HTN in Childhood - 12-18years

A

Essential HTN
Iatrogenic
Renal parenchymal disease
Less commonly Renovascular disease, endocrine, and coarc

59
Q

Most common cause of severe HTN

A

Renal artery stenosis

60
Q

HTN Work Up

A 
UA
RFP
Fasting lipids
Echo
Renal US with Dopplers
61
Q

Anion Gap Formula

A

Na - (Cl + HCO3)

62
Q

Acidosis with Normal Anion Gap

A 
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
63
Q

Difference Between Type I and Type II RTA

A

Reaction when giving an acid (ammonium chloride)

Type I (distal) - inability to excrete acid and cannot drive urine pH to 5.5 or lower

Type II (proximal) - if low bicarb, would not be able to increase/reabsorb bicarb and urine pH is greater than 7

64
Q

Serum Osmolarity Equation

A

(2xNa) + (glucose/18) + (BUN/3)

65
Q

PKU as Teratogen

A

IUGR
ID
Microcephaly
Structural defects - congenital heart disease

Phe is 70-80% higher in fetus as mom’s level

66
Q

Homocystinuria

A

Screening: methionine
Dx: methionine and homocysteine
Defect: cystathionine beta synthase
Tx: betaine, folate, pyridoxine, or all three depending on defect; ASA for anti-coagulation

67
Q

Galactosemia

A

Screening: GALT
DX: GALT electrophoresis
Tx: galactose and lactose free diet, sucrose only

68
Q

MCAD

A

Screening: carnitine profile
Dx: repeat above and genetic testing
Tx: carnitine, frequent feedings, and avoid hypoglycemia

69
Q

OTC

A

XLR
Screen: increased glutamine, decreased citrulline and arginine, increased urine orotic acid
Dx: AA profile, UOAs
Tx: protein restriction, citrulline, NH3 scavengers

70
Q

Gaucher

A

Dx: glucocerebrosidase assay
Clinical: thrombocytopenia, excessive bleeding, pathologic fx, mild to severe ID (types II/III)
Defect: B glucosidase
Tx: symptomatic, ERT

71
Q

Tay Sachs

A

Dx: hexoaminidase A assay

72
Q

Hurler

A

MPS I
Screening: quantitative urinary MPS
Dx: iduronidase
Tx: stem cell replacement, ERT

73
Q

Hunter

A 
MPS II
only MPS inherited as XLR 
Screen: urinary MPS
Dx: iduronate sulfatase deficiency 
Tx: stem cell/ERT
74
Q

Metabolic Acidosis DDX Chart

A

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
75
Q

Holt Oram Syndrome

A 
Heart Hand
Congenital heart disease ASD>VSD
Finger like or absent thumb
Radial hypoplasia
TBX5 transcription factor
76
Q

Thanatophoric Dysplasia

A

AD
Short limbs, curved long bones, narrow thorax-> lung hypoplasia -> death
FGFR3

77
Q

Goldenhar Syndrome

A

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

78
Q

Russell- Silver

A

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

79
Q

Cornelia de Lange

A

Nipped B like gene also called delangin

80
Q

Rett Syndrome

A

XLD

MECP2 gene

81
Q

CHARGE

A 
Coloboma
Heart
Choanal atresia
Retarded growth
GU
Ear
82
Q

VACTERL

A 
Vertebral
Anal
Cardiac
TE fistula/esophageal atresia
Renal
Limb
83
Q

Klippel Feil Anomaly

A

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

84
Q

Smith Magenis

A

17p11 deletion

85
Q

Trichorhinophalangeal Syndrome

A

8q24 deletion

86
Q

Miller Dieker

A

17p13 deletion

Pediatrics Boards (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions