Brainscape's Knowledge GenomeTM

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


See full index

To Review > PEDS > Flashcards

PEDS Flashcards

1
Q

2 mo old with constipation, lethargy, hypotonia, macroglossia, umbilical hernia, large anterior fontanelle

A

Congenital hypothyroidism

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

3do w/jaundice. Mom and patient Rh positive. Tbili 6, direct 0.5. AST, ALT normal. Most likely cause of jaundice?

A

UDP glucuronosyltransferase deficiency - Crigler-Najjar

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

Deficiency in what enzyme causes elevated arginine in plasma and CSF? What does the enzyme produce?

A
  1. Arginase deficiency (urea cycle enzyme)
  2. Urea and ornithine
    sx - spastic diplegia, growth delay, abnl mvts
    tx - arginine-free, low-protein diet
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the major aa in the blood that transports excess ammonia from peripheral tissues to the kidney?

A

Glutamine

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

Deficiency in what causes hyperhomocysteinemia?

A

Vit B6, B12 and folate (B9) def

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Citrullinemia and ornithine transcarbamylase deficiency causes excess of what? These are disorders of what cycle?

A

Orotic acid

Urea cycle - cause hyperammonemia

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

Hydroxylation and decarboxylation of what forms serotonin?

A

Tryptophan

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

DM, bronze-colored lesions that blister and scale, GI sx and anemia are signs of what?

A

Glucagonoma (from alpha-cells of pancreas)

dx - elevated serum glucagon

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

Abd pain, gallbladder stones, constipation, hyperglycemia, and steatorrhea are signs of what?

A

Somatostatinoma

inhibits insulin, glucagon, secretin, CCK secretion and GI motility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Intractable diarrhea, hypokalemia, dehydration, hypotension and achlorhydria are signs of what?

A

VIPoma

vasodilates

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

xeroderma pigmentosa has a defect in what process?

A

nucleotide excision repair - AR

endonuclease problem

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

kid with hx of recurrent lymphadenitis and skin infections. Dihydrorhodamine flow cytometry is not green, which is characteristic of normal neutrophils. Disease? How else do you diagnose it and what does it measure?

A

Chronic granulomatous disease - X-linked; unable to kill CATALASE producing organisms
Nitroblue tetrazolium test - dark blue. Assesses superoxide production (NADPH oxidase mutation)

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

Inc AFP in amniotic fluid indicates what?

A

NTD

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

Dec AFP in amniotic fluid indicates what?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Inc acetylcholinesterase into amniotic fluid indicates what?

A

NTD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Only humoral immune def with no peripheral immature and mature B cells (no CD19+)

A

Bruton X-linked agammaglobulinemia

Mutation in BTK

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

Patients with Bruton agammaglobulinemia have inc susceptibility to what?

A

Encapsulated pyogenic bacteria (Strep pneumo, H influenza, Pseudomonas)
defect in tyrosine kinase –> no B cell maturation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Affects both B and T cell maturation. Prone to bacterial, viral, fungal and protozoan infections

A

SCID

- Adenosine deaminase def

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

Leukocyte adhesion def is due to deficiency in what?

A

CD18
lack common beta chain of integrin molecules.
Delayed umbilical cord separation

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

Hyper IgM syndrome is due to a deficiency in what?

A

CD40L
Def in TH cells deficient in expression of CD40L.
B cells present but no class switching. High IgM, low IgG, IgA, IgE.
Recurrent bacterial viral fungal and protozoal infx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What conditions can cause elevated urine orotic acid? How can you differentiate the two via sx?

A
  1. Hereditary orotic aciduria (defect in UMP synthase) - phys and mental retardation, megaloblastic anemia
  2. Ornithine transcarbamylase deficiency - failure to thrive, hyperammonemic encephalopathy (impaired urea synth)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

PKU causes a deficiency of what and an excess of what? Why?

A

Tyrosine def, phenylalanine excess - phenylalanine hydroxylase converts phenylalanine to tyrosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How does PKU cause fair complexion?

A

Excess phenylalanine inhibits tyrosinase, which is needed for production of melanin.

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

What vitamin can treat measles infection by reducing comorbidities (eg diarrhea, pneumonia), recovery time, and length of hosp stay?

A

Vit A

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

What vitamins in breast milk content is typically insufficient for nutritional needs of the newborn?

A

Vit D and K

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

Differential finger clubbing and cyanosis without blood pressure or pulse discrepancy are pathognomonic for what?

A

PDA complicated by Eisenmenger syndrome (reversal of shunt flow from L–>R to R–> L)

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

Hypoketotic hypoglycemia can occur after a period of fasting if a patient has a defect in fatty acid B-oxidation. What enzyme defect causes this defect?

A

acyl-CoA dehydrogenase (MCAD)
Def in this enzyme prevents formation of FADH2, NADH and ATP or ketone bodies
Carnitine def has similar features

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

What is needed to transport fatty acids into the mitochondria for b-oxidation?

A

Carnitine

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

Cocaine use during pregnancy inc risk of what in the fetus?

A

Prematurity
Cocaine vasoconstricts
Nicotine does the same

30
Q

Methimazole use during pregnancy inc risk of what in the fetus?

A

aplasia cutis congenita

31
Q

Excess vitamin A use during pregnancy inc risk of what in the fetus?

A

spontaneous abortions and birth defects (cleft palate, cardiac)

32
Q

Signaling defect in this inhibitory NT receptor causes generalized tonic-clonic seizures, myoclonus, hiccuping and floppiness in infants

A

Glycine receptor

GABA is another inhibitory NT. These NT are from the Renshaw cells in the spinal cord and are affected in C tetani

33
Q

Newborn with small head, small eyes, 6 fingers on each hand, cutis aplasia, and multiple heart defects is indiciative of what?

A

Trisomy 13 (patau)

34
Q

Newborn with low-set ears, micrognathia, clenched hands, pominent occiput

A

Trisomy 18 (Edwards)

35
Q

Maternal diabetes is associated with what cardiac congenital anomaly?

A

transposition of the great vessels.

36
Q

Cerebellar tumors: pilocytic astrocytoma vs medulloblastoma on imaging?

A

Pilocytic - solid and cystic components. MC brain neoplasms of childhood. Well-diff neoplasm with spindle cells with hair-like glial processes assoc with microcytes. Mixed with Rosenthal fibers and granular eosinophilic bodies
Medulloblastoma - completely solid. Sheets of primitive cells and many mitotic figures. 2nd MC neoplasm of childhood
Note: Ependymomas ar the 3rd MC brain neoplasm in kids. Arise in walls of ventriculi and hamper CSF –> hydrocephalus. Rosettes on micro.

37
Q

Caudal regression syndrome (sacral agenesis) –> lower extremity paralysis and urinary incontinence is due to what in the mother?

A

Poorly controlled maternal diabetes

38
Q

Tanner stages

A

1 - breasts with papilla elevation; villus pubic hair
2 - palpable breast buds, enlargement of areola, minimal coarse, pigmented hair on labia
3 - elevation of breast contour with areolar enlargement, dark curly hair over mons pubis, axillary hair dev
4 - secondary mound on breast (areola), adult pubic hair
5 - recession of areola to general breast contour, adult pubic hair to medial thigh

39
Q

Abnormal vacuolization and inclusions (inclusion bodies) of cytoplasm of cells of mesenchymal origin in infant with skeletal abnormalities and mental retardation

A

I - cell disease
Defect in GOLGI phosphotransferase
I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within the cell.
Cant direct lysosomal proteins to lysosome

40
Q

Differentiate Kawasaki from GAS infection

A

Both have strawberry tongue, fever, and desquamation.
Kawasaki - Asian, bilat nonexudative conjunctivitis, swelling of hands and feet, persistent high fever. Assoc with dev of coronary artery aneurysm

41
Q

Straw-colored discharge from the umbilicus in newborn and reducible hernia are signs of what?

A

Patent urachus (bladder to body wall) - discharge of urine from the umbilicus. Urachus is a remnant of the allantois

42
Q

What are the 3 ways Down syndrome can be inherited?

A
  1. Meiotic nondisjunction (~95%) - meiosis I MC
  2. Unbalanced translocation
  3. Mosaicism
43
Q

Pneumatosis intestinalis on abdominal Xray in a newborn is suggestive of what?

A

Necrotizing enterocolitis

44
Q

What’s the primary cause of morbidity in acute rheumatic fever?

A

heart failure from severe pancarditis

Note: mitral stenosis develops years or decades after original illness

45
Q

Differentiate choanal atresia from TE fistula w/esophageal atresia sx

A

Choanal atresia - posterior nasal passages obstructed –> cyanosis w/feeding but NO drooling. Cant pass NG tube through nares.
TE fistula w/esophageal atresia - excess secretions, choking/cyanosis during feeds. Cant pass NG into stomach

46
Q

Infant with abnormal pallor of catecholaminergic brain nuclei on autopsy, hypopigmentation and hx of seizures is suggestive of what?

A

PKU
Cant convert phenylalanine to tyrosine
Due to inhibitory effects of excess phenylalanine on melanin synthesis

47
Q

Tyrosinase deficiency results in what?

A

Albinism - AR

Cant convert tyrosine to DOPA and DOPA to dopaquinone in melanocytes

48
Q

Rett syndrome is caused by what?

A

Most d/t de novo mutations in the X-linked MECP2 gene

Girls, handwringing, decel of head growth, loss of motor and lang skills

49
Q

Anatomical cause of umbilical hernias?

A

Defect in the linea alba

Assoc w/Down syndrome, hypothyroidism, and Beckwith-Wiedemann syndrome

50
Q

Triad of eczema, thrombocytopenia and combined B-lymphocyte and T-lymphocyte def

A

Wiskott-Aldrich
(WATER)
WA, thrombocytopenia, eczema, recurrent infx

51
Q

Oculocutaneous albinism, peripheral neuropathy, and immunodef related to dysfunction of phagocyte phagosome-lysosome fusion

A

Chediak Higashi synd
Recurrent pyogenic infections by staphylococci
and streptococci, partial albinism, peripheral
neuropathy, progressive neurodegeneration, infiltrative
lymphohistiocytosis.

52
Q

Second hand smoke in infants inc risk of what?

A

Low birth weight, asthma, middle ear disease, and SIDS

Note: up to half of SIDS cases are due to tobacco exposure

53
Q

MC malignancy of childhood? What subtype is more common? What is unique about each subtype?

A

ALL
B-cell ALL - 70-80% of all cases of ALL
T-cell ALL - 15-17%, but often presents with MEDIASTINAL MASS –> resp sx, dysphagia or superior vena cava synd

54
Q

Congenital torticolis is most commonly the result of what?

A

Malposition of the head in utero or birth trauma

55
Q

Management of fever vs heat stroke in kids

A

Fever - acetaminophen or ibuprofen for comfort
Supportive care is approp for simple febrile seizures
Heat stroke - rapid external cooling

56
Q

Tetanus immunization with toxoid protects an individual who has been infected how?

A

Humoral (active) immunity: Circulating antitoxin antibodies neutralize bacterial products
Note: CD8 T cells for viruses
Macrophages for intracellular org and granulomas
Neutrophils phag foreign organisms and in innate immunity

57
Q

Sucrose is metabolized to what?

A

Fructose

Avoid sucrose in fructose intolerance

58
Q

Which vessel in fetal circulation has the highest O2 saturation?

A

Umbilical vein, which drains into the IVC via the ductus venosus
Note: IVC –> Rheart –> foramen ovale –> Lheart –> aorta –> fetal tissues. Deoxy blood from tissues –> umbilical a –> placenta.

59
Q

Meconium ileus (distal SBO) is associated with what condition in infants?

A

CF (dehydrated meconium)

60
Q

Histo of Reye syndrome?

A

Microvesicular steatosis of hepatocytes without inflammation and cerebral edema
Sx: hepatic failure, acute encephalopathy assoc with aspirin use.
Do not admin Aspirin until 16yo except for Kawasaki tx

61
Q

AR disorder characterized by profound bilateral SNHL and congenital long QT syndrome which predisposes to ventricular arrhythmias and sudden cardiac death. MOA?

A

Jervell and Lange-Nielsen syndrome

Occurs secondary to mutations in genes that encode voltage-gated POTASSIUM channels

62
Q

Duchenne muscular dystrophy is an XR myopathy that results from deletion of what gene? What is the function of the protein?

A

Dystrophin gene
Dystrophin is a muscle structural protein that allows interaction bw extracellular CT and intracellular contraction apparatus

63
Q

What type of hematoma is MC in child abuse?

A

Subdural hematoma - bridging veins
Bilateral retinal hemorrhages also seen
Different ages of injuries

64
Q

What lab value can confirm Duchenne Muscular Dystrophy?

A

Extremely elevated serum creatine kinase activity

65
Q

AR hereditary inability to synthesize Lipoproteins due to deficiency of ApoB-100 and apoB-48.
Findings: Failure to thrive, Steatorrhea, Acanthocytosis ( Lack of lipids in the cell memb–> Abnormal RBC). Ataxia, Night blindness, pigment degeneration in retina.

A

Abetalipoproteinemia

66
Q

Newborn dies at 12 days and brain on autopsy shows yellowing of the center of the brain on cross-section. Cause?

A

Hyperbilirubinemia - UNCONJUGATED bilirubin
The term kernicterus literally means “yellow kern,” with kern indicating the most commonly afflicted region of the brain (ie, the nuclear region). Historically, the term refers to an anatomic diagnosis made at autopsy based on a characteristic pattern of staining found in babies who had marked hyperbilirubinemia before they died.

67
Q

Differentiate cause of cleft lip and cleft palate

A

Cleft lip: failure of fusion of the maxillary and medial nasal process …formation of primary palate

Cleft palate: failure of fusion of the lateral palatine processes, the nasal septum, and/or the median palatine process……formation of secondary palate

68
Q

5yo with recurrent middle ear infx and URIs. Impaired motor and cognitive function skin fibroblasts show inclusion bodies and lack of N-acetylglucosamine-1-phosphotransferase. Dx?

A

I-cell disease: lysosomal storage disease resulting from defective n-acetylglucosamine-1-phosphotransferase (golgi). Normally transfers phosphate to mannose residues marking them for lysosomes. Without this, the proteins are excreted out of the cell.

69
Q

6 week old with 6 day history of vomiting a small amount of milk 2-3 times a day, but is otherwise well is do to what?

A

Immature lower esophageal sphincter
In pediatric gastroesophageal reflux disease (GERD), immaturity of lower esophageal sphincter function is manifested by frequent transient lower esophageal relaxations, which result in retrograde flow of gastric contents into the esophagus.

70
Q

Understanding of death in certain age groups

A

Six-year-olds typically understand the finality of death. Infants have no understanding, whereas preschool age children often think of deaths in reversible or metaphorical terms.

To Review (37 decks)

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