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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
Klinefelter syndrome | Tx
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
Angelman syndrome
Maternal deletion Microcephaly, severe mental retard, ataxia and hypotonia create puppet gait, epilepsy, absence of speech Tx: supportive, normal life span
26
Parader Willi
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
22q11 seen in | Dx?
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
Mental retard, macroorchidism, protruding ears, macrocephaly, elongated facies, shyness, autistic behavior, avoid eye contact Due to what?
Fragile X synd Most common heritable mental retardation Boys to girls 2:1 Due to repeated nucleotide CGG
29
What disorders are autos dominant?
Marfan, PKD, VHL, Huntington, FAP, hereditary spherocytosis, familial hypercholesterolemia
30
Marfan | How inherited?
Autos dominant. Chrom 15. Affects fibrillin | Aortic root dilatation, MVP, aortic regurg, lens subluxation, sudden death usu due to aortic dissection
31
How are females affected with X linked recessive disorders?
Lyonization- the unaffected X is lyonized/inactivated. All daughter cells lyonize the same X
32
X linked recessive disorders
Fabry disease, duchenne and Becker, G6PD def, hunter syndrome, Ocular albinism, red green color blindness, alport synd, hemophilia
33
``` PKU Accumulation of Deficiency Distinctive features Tx ```
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
``` Homocystemia/homocystinuria What accumulates Deficiency of Features Tx ```
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
``` Maple syrup urine disease What accumulates Deficiency of Features Dx Tx ```
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
Hartnup's disease Dx Tx
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
Deficiency of hexosaminidase A
Tay Sachs
38
What results in accumulation of GM2 ganglioside
Tay Sachs
39
Cherry red spot on macula, clear cornea, frog like position, no organomegaly, death by 3-5 yrs, Ashkenazis
Tay Sachs
40
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
Niemann pick
41
Niemann pick- what accumulates and where?
Sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells
42
``` Gaucher Deficiency in What accumulates and where Features Tx ```
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
Fabry disease Deficiency Accumulation
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
``` Krabbe disease Deficiency in Accum of Features Tx ```
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
Failure to thrive, severe hepatomegaly, thin extremities, fasting hypoglycemia, lipemia, metabolic acidosis What is it?
Von Gierke's disease
46
Von Gierke's Deficiency of? Accum? Sxs
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
Newborn infant or child has jaundice, hepatomegaly, positive urinary reducing substance, normal urine odor, vomiting, lethargy, feeding difficulties
Galactosemia
48
``` Galactosemia Pathophys How inherited Sxs Dx Tx ```
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
Lesch Nyhan syndrome Deficiency of, build up of Dx Tx
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
Type II hyperlipoproteinemia/Fam hypercholesterolemia Due to Tx
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
Type I hyperlipoproteinemia/Hyperchylomicronemia Due to What accumulates Tx
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
Absence of tonsils and lymphatic nodes
Burton agammaglobulinemia
53
Coarse features, eczema, lax joints, scoliosis
Job syndrome
54
3 month old with FTT has no palpable lymph nodes, PCP, thrush
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
SCID dx
ALC absolute lymphocyte count <500 Low serum IgG IgA IgM Low or no B and T cells
57
Ataxia, telangiectasias on sclera first sign/injected sclera, lymphoma, first 6 yrs presentation, chronic sinusitis, bronchiectases
Ataxia telangiectasia. Increased risk of leukemia and lymphoma T cell deficiency Tx: supportive
58
TIE: thrombocytopenia,Triad of eczema/atopic dermatitis, immunosuppression and high IgA/IgE. Also Recurrent otitis media
Wiskott Aldrich X linked rec disorder of cell cytoskeleton First manifestation usu petechiae or bleeding in first few months
59
Infant has truncus arteriosus, interrupted aortic arch, cleft palate, seizures, recurrent pulmonary infections, hypocalcemia
DiGeorge. Also with absent thymic shadow, hypocalcemia | Recurrent infx from T cell deficiency
60
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:
CVID | tx: IVIG if IgG
61
No tonsils, no lymph nodes, males, resp and GI infx (pneumococcus and giardia). No B cells, normal T cells dx tx
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
mostly recurrent resiratory infx, arthritis, IBD, Normal IgM and IgG what tx is contraindicated?
IgA deficiency IgG is major Ig in airway tx: IVIG contraindicated due to fetal anaphylaxis risk

Pediatrics Clerkship (1 decks)

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