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Pediatrics Clerkship > First Aid > Flashcards

First Aid Flashcards

0
Q

Signs of meconium aspiration

What is it?

A

Grunting respirations, signs of air trapping, RR 100/min
First day of life
Stress causes passage of meconium into amniotic fluid leading to severe respiratory distress

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1
Q

Developmental dysplasia of hip DDH -
what demographics most commonly found?
Other details

A

White females, breech position
Unilateral left hip, asymmetry of groin skin folds, shortened leg
Dx: US
Tx: pavlik harness

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2
Q

Meconium ileus

Most common presentation of what disorder?

A

Meconium obstructed in terminal ileum
Failure to pass stool, abd distension, vomiting
Most common presentation of cystic fibrosis in neonates

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3
Q

Diaphragmatic hernia

A

Resp distress immediately upon delivery, poor breath sounds on affected side, scaphoid abdomen

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4
Q

Are high indirect bili levels in first 24h of life physiologic?

A

They are never physiologic. Physiologic is after 24h, peaks at 3d, resolves over 2 weeks

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5
Q

RDS

Etiology?

A
  • Secondary to insufficiency of surfactant due to immaturity of type 2 alveolar cells
  • Alveoli small, inflate w difficulty, do not remain gas filled in between inspirations, ribcage small and compliant
  • high surface tension, alveolar collapse–>atelectasis, shunting, hypoxemia
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6
Q

Bronchopulmonary dysplasia BPD

Aka

A

Wilson-Mikity syndrome
Squamous metaplasia and hypertrophy of small airways
Need for supplemental O2 beyond 28days of life
Etiology multifactorial
Dx: CXR showing hyperaeration and atelectasis
Tx: supplemental O2, oral steroids, bronchodilators

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7
Q

NEC pathophys

A

Bowel ischemia and bacterial invasion of intestinal wall

Primarily premature infants

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8
Q

NEC signs and sxs

A 
Intolerance oral feeding- vomiting, bilious aspirated, large vol residue in stomach 
Abd distension
Temp instability
Resp distress
Acidosis, shock, sepsis
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9
Q

NEC dx

A

distended loops of bowel, pneumatosis intestinalis (air bubbles in bowel wall), air in portal vein, air under diaphragm if perforated, occult blood in stool

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10
Q

Retinopathy of prematurity

A

Proliferation of retinal vessels due to excessive use of oxygen
Can lead to retinal detachment and blindness if severe
Dx: all very low birthweight infants screened with opthalmoscopic exam
Tx: laser surgery if severe

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11
Q 
IVH (intraventricular hemorrhage) 
Definition 
Predisposing factors
Sxs
Dx
A

Definition: rupture of germinal matrix blood vessels from hypoxia or hypotension
Predisposing factors: prematurity, RDS, hypo or hypervolemia, shock
Sxs: most are asymptomatic, lethargy, poor suck, high pitched cry
Dx: cranial ultrasound thru anterior fontanelle
Tx: correct underlying condition, VP shunt if hydrocephalus

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12
Q

Rickets of prematurity
Dx
Tx

A

Dx based on xray: cupping and fraying of metaphyses, subperiosteal new bone formation, osteopenia
Alk phos elevated, serum calcium and phos not good indicators of disease
Tx: vit D and calcium supplementation

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13
Q

Acrodermatitis, alopecia, growth failure

A

Zinc deficiency

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14
Q

Vitamin A deficiency causes

A

Number 1 cause of blindness in young children worldwide

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15
Q

Babies born to hep B surface antigen positive women should receive what

A

Hep B immunoglobulin and hep B vaccine x 3 shortly after birth. Test for surface antigen and antibody 1-2 months after 3 doses of vaccine

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16
Q

Antidote to organophosphates

A

Atropine and pralidoxime

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17
Q

Antidote to methanol poisoning

A

Ethanol and fomepizole

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18
Q

Antidote to iron overdose

Sxs?

A

Abdominal pain, vomiting

Deferoxamine

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19
Q

Antidote to heavy metal poisoning

A

Dimercaprol
Dimercaptosuccinic acid (succimer, DMSA)
EDTA

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20
Q

Prominent occiput, low set ears, small mouth, short sternum, thumb and radius agenesis, camptodactyly (little finger flexed), cardiac valve leaflet redundancy, seizures, rocker bottom feet

A

Edwards syndrome

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21
Q

Holoprosencephaly, micropthalmia, midline facial defects, polydactyl scalp cutis aplasia, cystic kidneys, VSD

A

Patau

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22
Q

Turner syndrome

Tx?

A

45,XO
Webbed neck, lymphedema hands and feet, loose skin folds at neck nape, coarctation of aorta and bicuspid aortic valve
Tx: induction of puberty, replacement for secondary sex development, monitor for autoimmune hypothyroidism, resect intra abdominal gonads for malignancy

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23
Q

Noonan syndrome

A

Phenotypically similar to turners but can affect males too
Females have normal XX
Autosomal dominant
Pulmonary stenosis

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24
Q

Klinefelter syndrome

Tx

A

47,XXY. Extra X in males. Most common cause of male hypogonadism and infertility
Small testes. Most Phenotypically normal until puberty. Azoospermia (no sperm), tall, gynecomastia, learning disabilities, delay motor skill dev, presence of Barr body inactivated X
Tx: testosterone during puberty for secondary sex dev

25
Q

Angelman syndrome

A

Maternal deletion
Microcephaly, severe mental retard, ataxia and hypotonia create puppet gait, epilepsy, absence of speech
Tx: supportive, normal life span

26
Q

Parader Willi

A

Paternal deletion 15q11
Hyperphagia, obesity, small hands and feet, hypogonadism, fluent speech, OCD
Tx: obesity prevention. Lifespan may be limited by obesity, GH for small height

27
Q

22q11 seen in

Dx?

A

DiGeorge and velocardiofacial syndrome
Congenital heart defects (85%), palate abnorm, thymic aplasia, defective T cell fxn, hypocalcemia from PTH involvement, tetralogy of fallot, interrupted aortic arch
Dx: FISH

28
Q

Mental retard, macroorchidism, protruding ears, macrocephaly, elongated facies, shyness, autistic behavior, avoid eye contact
Due to what?

A

Fragile X synd
Most common heritable mental retardation
Boys to girls 2:1
Due to repeated nucleotide CGG

29
Q

What disorders are autos dominant?

A

Marfan, PKD, VHL, Huntington, FAP, hereditary spherocytosis, familial hypercholesterolemia

30
Q

Marfan

How inherited?

A

Autos dominant. Chrom 15. Affects fibrillin

Aortic root dilatation, MVP, aortic regurg, lens subluxation, sudden death usu due to aortic dissection

31
Q

How are females affected with X linked recessive disorders?

A

Lyonization- the unaffected X is lyonized/inactivated. All daughter cells lyonize the same X

32
Q

X linked recessive disorders

A

Fabry disease, duchenne and Becker, G6PD def, hunter syndrome, Ocular albinism, red green color blindness, alport synd, hemophilia

33
Q 
PKU
Accumulation of
Deficiency
Distinctive features
Tx
A

Phenylalanine (can’t be converted to tyrosine)
Usually phenylaline hydroxylase
Fair hair and skin (low tyrosine), blue eyes, mousy odor, severe mental retard progressive and irreversible
Autos recessive
Tx: limit intake of phenylaline, increase untake tyrosine- if started within first 10d of life, infants have normal intelligence

34
Q 
Homocystemia/homocystinuria
What accumulates
Deficiency of
Features
Tx
A

Homocysteine and methionine. Disorder occurs bc homocysteine is not remethylated to methionine
Cystathionine beta-synthase
Ectopia lentis, marfanoid habitus, mental retard, osteoporosis
Autosomal rec
Tx: 50% B6/pyridoxine responsive. If not, restrict methionine intake and supplement with cysteine
(Methionine–>homocysteine–>cystathionine–>cysteine

35
Q 
Maple syrup urine disease 
What accumulates
Deficiency of
Features
Dx
Tx
A

Branched chain amino acids: leucine (this one accumulates the most), isoleucine, valine
Branched chain ketoacid dehydrogenase
Odor of maple syrup in urine sweat and cerumen, feeding difficulties, lethargy and coma, convulsions
Dx: elevated levels of aas, low plasma alanine, urine precipitant test, neuroimaging showing cerebral edema
Tx: low branched chain aa diet, IV administration of aas that are not branched chain, HD or peritoneal dialysis can save life in acidotic crisis, liver transplantation can treat

36
Q

Hartnup’s disease
Dx
Tx

A

Defect in transport of neutral aas by intestinal mucosa and renal tubules
Dx: Aminoaciduria of neutral aas, normal plasma aa levels. Urinary proline, hydroxyoroline, arginine remain normal
Tx: nicotinic acid/nicotinamide, high protein diet if symptomatic

37
Q

Deficiency of hexosaminidase A

A

Tay Sachs

38
Q

What results in accumulation of GM2 ganglioside

A

Tay Sachs

39
Q

Cherry red spot on macula, clear cornea, frog like position, no organomegaly, death by 3-5 yrs, Ashkenazis

A

Tay Sachs

40
Q

Foam cells in bone marrow aspirates, Hepatosplenomeg, neonatal jaundice, clear corneas, cherry red spot in half of cases, death by 3 yrs, varying Neurologic signs, Ashkenazi

A

Niemann pick

41
Q

Niemann pick- what accumulates and where?

A

Sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells

42
Q 
Gaucher
Deficiency in
What accumulates and where
Features
Tx
A

Beta glucosidase
Accum of glucocerebroside in reticuloendothelial sys, affects bone liver spleen bone marrow brain
Ashkenazi Jews
Pancytopenia, bone fractures pain avascular necrosis, Gaucher cells in bone marrow (crinkled paper cytoplasm)
Infant form- rapid neuro deterioration, adult - normal life span, more common
Tx: enzyme replacement

43
Q

Fabry disease
Deficiency
Accumulation

A

Ceramide trihexosidase or alpha galactosidase A
Accum of glycosphingolipids in vascular endothelium, nerves, organs
Angiokeratomas (dark red macules that don’t blanch in navel and buttocks), telangiectasias, first sign is neuropathic limb pain, hepatomegaly, renal failure

44
Q 
Krabbe disease
Deficiency in
Accum of
Features
Tx
A

Galactocerebrosidase
Accum of ceramide galactose in lysosomes of brain white matter
Progressive CNS degen within first 6mos, optic atrophy, spasticity, clear cornea, globoid cells in areas of demyelination (distended multi nucleated bodies)
Tx: HSC for infants before onset of neuro sxs

45
Q

Failure to thrive, severe hepatomegaly, thin extremities, fasting hypoglycemia, lipemia, metabolic acidosis
What is it?

A

Von Gierke’s disease

46
Q

Von Gierke’s
Deficiency of?
Accum?
Sxs

A

Deficiency of glucose 6 phosphatase
G6P accumulates–> more glycolysis–> more lactic acidosis
Sxs: lactic acidosis and hypoglycemia (impaired gluconeog, glycogenolysis) most common presentation, hepatomegaly, hyperlipidemia, hyperuricemia, seizure

47
Q

Newborn infant or child has jaundice, hepatomegaly, positive urinary reducing substance, normal urine odor, vomiting, lethargy, feeding difficulties

A

Galactosemia

48
Q 
Galactosemia
Pathophys
How inherited
Sxs
Dx 
Tx
A

Ingesting galactose–>high conc in blood and urine–>deposits in brain and liver and other places. Toxic substances like galactitol cause organ damage
Autos recessive
Triad: liver failure (jaundice, coag disorder), renal tubular dysfunction (glucosuria, aminoaciduria, acidosis), cataracts. Other: HSM, mental retard, sepsis from ecoli
Dx: reducing substances in urine is suggestive. Newborn screening with GALT enzyme measurement
Tx: no galactose and lactose in diet. Soy based formula

49
Q

Lesch Nyhan syndrome
Deficiency of, build up of
Dx
Tx

A

Deficiency of HGPRT, purines build up in tissues
Think this with self mutilation and choreoathetosis (at 1 yr) with mental retard. spastic cerebral palsy, hyperuricemia, urinary tract calculus
Dx: Delayed motor dev becomes apparent at 3 mos to make diagnosis, orange crystals in diaper (uric acid), serum uric acid levels
Tx: supportive, allopurinol for uric acid levels, death in 20-30s

50
Q

Type II hyperlipoproteinemia/Fam hypercholesterolemia
Due to
Tx

A

Cholesterol >500. Heterozygous form common
Due to genetic defect in LDL receptor
Tendinous zanthomata, childhood MI
Tx: statins and cholestyramine for heterozygous, liver transplant for homozygous

51
Q

Type I hyperlipoproteinemia/Hyperchylomicronemia
Due to
What accumulates
Tx

A

Def in lipoprotein lipase or cofactor C-II
Autos recessive
Accumulation of chylomicrons. Low or normal LDL, serum grossly milky
Eruptive xanthomata, no atherosclerotic disease
Tx: very low fat diet can reduce painful crises and xanthomata

52
Q

Absence of tonsils and lymphatic nodes

A

Burton agammaglobulinemia

53
Q

Coarse features, eczema, lax joints, scoliosis

A

Job syndrome

54
Q

3 month old with FTT has no palpable lymph nodes, PCP, thrush

A

SCID. Absence of lymph nodes and FTT in first few months of life suggests SCID with thrush, lots of diaper rash, FTT are prominent features. Diarrhea, pneumonia, otitis, skin rashes, infx w opportunistic organisms (candida, mycobacterial herpes, cmv, pcp)
Low or no T, some no B cells
1/3 of all cases have adenosine deaminase (ADA) deficiency

55
Q

SCID dx

A

ALC absolute lymphocyte count <500
Low serum IgG IgA IgM
Low or no B and T cells

57
Q

Ataxia, telangiectasias on sclera first sign/injected sclera, lymphoma, first 6 yrs presentation, chronic sinusitis, bronchiectases

A

Ataxia telangiectasia.
Increased risk of leukemia and lymphoma
T cell deficiency
Tx: supportive

58
Q

TIE: thrombocytopenia,Triad of eczema/atopic dermatitis, immunosuppression and high IgA/IgE. Also Recurrent otitis media

A

Wiskott Aldrich
X linked rec disorder of cell cytoskeleton
First manifestation usu petechiae or bleeding in first few months

59
Q

Infant has truncus arteriosus, interrupted aortic arch, cleft palate, seizures, recurrent pulmonary infections, hypocalcemia

A

DiGeorge. Also with absent thymic shadow, hypocalcemia

Recurrent infx from T cell deficiency

60
Q

Abnormal B and T cells, LAD, splenomegaly, assoc w/ autoimmune: IBD, higher risk of malignancies/lymphomas, chronic sinopulm infx (pneumococcus), GI infx (giardia), Normal IgG, low IgA, IgG
tx:

A

CVID

tx: IVIG if IgG

61
Q

No tonsils, no lymph nodes, males, resp and GI infx (pneumococcus and giardia). No B cells, normal T cells
dx
tx

A

Bruton’s agammaglobulinemia. Infants fine for 6 mos due to maternal Abs

  • diff from SCID (also no lymph nodes) b/c SCID is primary T cell deficiency and Bruton’s is B cell def
  • dx: absent B cells
  • tx: IVIG
62
Q

mostly recurrent resiratory infx, arthritis, IBD, Normal IgM and IgG
what tx is contraindicated?

A

IgA deficiency
IgG is major Ig in airway
tx: IVIG contraindicated due to fetal anaphylaxis risk

Pediatrics Clerkship (1 decks)

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