Pediatrics Flashcards
1
Q
biliary atresia is complete _____ within the first 3 months of life
A
biliary atresia is complete obstruction of the lumen of the extrahepatic biliary tree within the first 3 months of life
2
Q
in idiopathic neonatal hepatitis, there is ____ transformation, where some cells may show ____ and ____ degeneration
A
in idiopathic neonatal hepatitis, there is giant cell transformation, where some cells may show ballooning and acidophilic degeneration
3
Q
“facial abnormalities, including Hutchinson teeth, saber shins”
dx?
A
Syphilis
4
Q
patients with Wiskott Aldrich syndrome are at increased risk for which cancer?
A
lymphoma
5
Q
describe a malformation
A
primary structural abnormality with poor formation of tissue d/t a localized error that occurs during development (intrinsically abnormal developmental process)
- polydactyly
- cleft lip
6
Q
$$ “a child has epinephrine metabolites in lysosomes; what disease is this?”
A
Dubin-Johnson
7
Q
in a patient with neuroblastoma, there are elevated blood levels of ____
and elevated urine levels of ____
A
in a patient with neuroblastoma, there are elevated blood levels of catecholamines
and elevated urine levels of catecholamine metabolites (VMA, HVA)
8
Q
male CF patients are often infertile due to atrophy and fibrosis of the ___ and ____
A
male CF patients are often infertile due to atrophy and fibrosis of the vas deferens and epididymis
9
Q
Klinefelter patients are prone to develop which 3 conditions?
A
breast cancer
extragonadal germ cell tumors
autoimmune diseases
10
Q
40% of neuroblastomas arise in ____ whereas the remainder arise anywhere along ____
A
40% of neuroblastomas arise in the adrenal medulla whereas the remainder arise anywhere along the sympathetic chain
11
Q
describe the manifestations of a congenital Rubella infection
A
12
Q
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show ____ and _____
A
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show dilated loops of bowel and pneumatosis intestinalis (presence of air bubbles in wall of intestines)
13
Q
Rotor syndrome is due to a defect in ____ with the bilirubin being absorbed ____
A
Rotor syndrome is due to a defect in the excretion of conjugated bilirubin into the biliary canaliculi with the bilirubin being absorbed into the blood
14
Q
_____ is the most common cause of deformation
A
uterine constraint is the most common cause of deformation
15
Q
galactosemia can progress to ____
A
galactosemia can progress to cirrhosis
16
Q
describe a disruption
A
caused by secondary destruction of a previously normally formed part d/t an extrinsic disturbance
-amniotic bands
17
Q
retinoblastoma can extend into ___ nerve and/or ____ space (___) with intracranial spread
A
retinoblastoma can extend into optic nerve and/or subarachnoid space (CSF) with intracranial spread
18
Q
in respiratory distress syndrome, a typical x-ray image would show ____
A
in respiratory distress syndrome, a typical x-ray image would show ground glass alterations of the lung
19
Q
describe 2 complications of oxygen therapy in neonates with RDS
A
- retrolental fibroplasia = retinopathy of d/t O2 toxicity & VEGF
- bronchopulmonary dysplasia = arrested development of alveolar septation at saccular stage of development → dysmorphic capillary configuration
20
Q
____ is swelling of the infant’s scalp
A
caput succedaneum is swelling of the infant’s scalp
21
Q
____ can be used to detect high levels of bilirubin
A
amniocentesis can be used to detect high levels of bilirubin
22
Q
Down syndrome patients have a higher risk of ____ and ____
A
Down syndrome patients have a higher risk of ALL and Alzheimers
23
Q
list the clinical features of Turner syndrome
A
24
Q
nephroblastomas are associated with ____ syndrome, which is a deletion of ___ gene
A
nephroblastomas are associated with WAGR syndrome, which is a deletion of WT1 gene
25
in perinatal biliary atresia, there is ___ inflammation of intrahepatic bile ducts and progressive destruction of \_\_\_\_
in perinatal biliary atresia, there is **periductal** inflammation of intrahepatic bile ducts and progressive destruction of **intrahepatic biliary tree**
26
in perinatal biliary atresia, there is inflammation and ___ of the ___ and ___ bile ducts
in perinatal biliary atresia, there is inflammation and **fibrosing stricture** of the **hepatic** and **common** bile ducts
27
\_\_\_\_ is the most common chromosomal disorder
**Down syndrome (trisomy 21)** is the most common chromosomal disorder
28
$$ how do infants contract Gonorrhea?
**through the birth canal**
29
$$ "baby born with Rubella; how did this spread?"
**hematogenous dissemination from the placenta**
30
describe the triphasic pattern of Wilm's tumor
blastema = sheets of small round blue cells
stroma = fibrocytic or myxoid in nature, may have striated muscle
epithelium = abortive tubules and glomeruli
31
on histology of retinoblastoma, there are ____ which are clusters of cuboidal tumor cells arranged around a central lumen
on histology of retinoblastoma, there are **Flexner-Wintersteiner rosettes (TRUE rosettes)** which are clusters of cuboidal tumor cells arranged around a central lumen
32
pediatric patients with agammaglobulinemia are at increased risk for which cancer?
**acute lymphoblastic leukemia (ALL)**
33
a frequent complication of retinoblastoma is \_\_\_\_\_
a frequent complication of retinoblastoma is **secondary glaucoma**
34
\_\_\_\_ are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of ____ gene
**nephroblastomas** are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of **WT2** gene
35
list the early complications of neonatal necrotizing enterocolitis
**sepsis**
**shock**
**acute tubular necrosis**
**DIC**
**intestinal perforation**
36
PKU is caused by a ___ mutation in the ___ gene located on chr. \_\_\_\_
PKU is caused by a **point** mutation in the **PAH** gene located on **chr. 12**
37
in inherited retinoblastomas, patients have an increased susceptibility to which 3 other tumors?
**osteosarcoma**
**Ewing sarcoma/PNET**
**pinealoblastoma**
38
list the 2 cardiovascular malformations seen in Turner syndrome patients
**coarctation of the aorta**
**bicuspid aortic valve**
39
respiratory distress syndrome (RDS) occurs due to decreased \_\_\_\_
respiratory distress syndrome (RDS) occurs due to decreased **surfactant**
40
\_\_\_\_ can mimic homeobox gene defects
**valproic acid** can mimic homeobox gene defects
41
idiopathic neonatal hepatitis excludes which 3 known associated factors?
A1AT def.
extrahepatic biliary atresia
infectious agents (HAV, HBV, HCV)
42
list the clinical features of Klinefelter syndrome
43
in long term survivors of neonatal intraventricular hemorrhage, there are cavitations or ___ surrounded by \_\_\_\_
in long-term survivors of neonatal intraventricular hemorrhage, there are cavitations or **pseudocysts** surrounded by **hemosiderin-laden macrophages** and **gliosis**
44
what are 2 clinical clues in a child that suggest cystic fibrosis?
**nasal polyps**
**rectal prolapse**
45
galactosemia is an autosomal (dominant or recessive?) condition where there is deficiency of \_\_\_\_
galactosemia is an autosomal **recessive** condition where there is deficiency of **galactose-1-phosphate uridyl transferase** (which catalyzes galactose → glucose)
46
recurrent pulmonary infections in CF can result in which 3 pulmonary conditions?
**chronic bronchitis**
**bronchiectasis**
**lung abscesses**
47
the 1-minute APGAR score determines \_\_\_\_
while
the 5-minute APGAR score assess \_\_\_\_\_
the 1-minute APGAR score determines **how well the baby tolerated the birthing process**
while
the 5-minute APGAR score assesses **how well the newborn is adapting to the new environment**
48
Down syndrome patients are at increased risk for which cancer?
**acute leukemia**
49
list poor prognostic indicators in neuroblastoma
poor prognostic indicators:
## Footnote
**MYCN amplification**
**deletion distal 1p and gain of distal 17q**
**telomerase overexpression**
50
PDA, cataracts, microcephaly and sensory neural deafness
dx?
Rubella
51
"encephalopathy, retinopathy, hydrocephalus"
dx?
Toxoplasmosis
52
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, ____ granules in ____ and ____ cells
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, **dark brown** granules in **hepatocytes** and **Kupffer** cells
53
the hyperphenylalaninemia seen in PKU interferes with ____ and inhibits \_\_\_\_\_
the hyperphenylalaninemia seen in PKU interferes with **amino acid transport system in the brain** and inhibits **the synthesis of neurotransmitters**
54
a 13q deletion predisposes children to which cancer?
**retinoblastoma**
55
nephroblastomas can be caused by mutations in ____ gene which accounts for 10% of the sporadic cases
nephroblastomas can be caused by mutations in **B-catenin** gene which accounts for 10% of the sporadic cases
56
\_\_\_\_ is seen in survivors of neonatal intraventricular hemorrhage
**hydrocephalus** is seen in survivors of neonatal intraventricular hemorrhage
57
\_\_\_\_\_ has a strong influence on the incidence of Down syndrome
**maternal age** has a strong influence on the incidence of Down syndrome
58
kernicterus occurs when high levels of ___ bind to and injury \_\_\_\_\_
kernicterus occurs when high levels of **unconjugated bilirubin** bind to and injury **the immature neurons of the CNS**
59
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in ____ and is composed of polymers of \_\_\_\_
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in **lysosomes** and is composed of polymers of **epinephrine metabolites, not bilirubin pigment**
60
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show \_\_\_\_
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show **mucosal coagulative necrosis extending into and often through the submucosa and muscular layers**
61
list the delayed complications of neonatal necrotizing enterocolitis
**short gut syndrome**
**malabsorption**
**strictures**
62
how does SIDS affect the lungs?
**congestion +/- pulmonary edema**
63
describe fetal infections acquired via the hematogenous route
64
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of \_\_\_\_
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of **falx cerebri or tentorium**
65
neuroblastoma is a poorly differentiated tumor arising from primitive ____ that normally give rise to the ____ and \_\_\_\_
neuroblastoma is a poorly differentiated tumor arising from primitive **neural crest cells** that normally give rise to the **adrenal medulla** and **sympathetic ganglia**
66
describe the triple-risk model for SIDS
1. vulnerable infant (has a RF)
2. critical development period in hemostatic control (arousal and cardiorespiratory)
3. one or more exogenous stressors (hypercarbia/hypoxia/thermal stress)
67
nephroblastoma is a malignant embryonal neoplasm derived from \_\_\_\_
nephroblastoma is a malignant embryonal neoplasm derived from **nephrogenic blastemal cells**
68
in SIDS, there is hypoplasia of ____ along with decrease in _____ in some cases
in SIDS, there is hypoplasia of **arcuate nucleus in the brain stem** along with decrease in **brain stem neuronal populations** in some cases
69
list common presentations of Wilm's tumor
**abdominal pain**
**hematuria**
**HTN**
**acute abdominal crisis secondary to traumatic rupture**
70
describe ascending infections that affect the fetus
71
neuroblastoma stains positively for ___ and \_\_\_\_
neuroblastoma stains positively for **neuron-specific enolase** and **synaptophysin**
72
there is elevated ____ bilirubin during the first week of life
there is elevated **unconjugated** bilirubin during the first week of life
73
Dubin-Johnson syndrome is characterized by defective ____ from ___ to \_\_\_\_
Dubin-Johnson syndrome is characterized by defective **transport of conjugated bilirubin** from **hepatocytes** to **canalicular lumen**
74
describe a sequence
multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis
ex: Potter sequence (oligohydramnios sequence)
75
cystic fibrosis is caused by a mutation in ___ on chr. \_\_\_\_
cystic fibrosis is caused by a mutation in **CFTR** on **chr****. 7**
76
embryonic/fetal type of biliary atresia is due to aberrant \_\_\_\_\_
perinatal type of biliary atresia is due to \_\_\_\_\_
embryonic/fetal type of biliary atresia is due to aberrant **intrauterine development of the extrahepatic biliary tree**
perinatal type of biliary atresia is due to **normally developed biliary tress that is destroyed following birth** (viral induced injury to biliary epi.)
77
most pediatric tumors have a ____ appearance since they are of ____ origin
most pediatric tumors have a "**small, round blue cells"** appearance since they are of **embryonal** origin
78
retinoblastomas can invade ___ especially the highly vascular ____ with subsequent ____ metastases
retinoblastomas can invade **blood vessels** especially the highly vascular **choroid** with subsequent **hematogenous** metastases
79
describe the pattern of metastasis of Wilm's tumor
"3 L's"
-**regional LNs**
**-lungs**
**-liver**
80
nephroblastomas are associated with ____ which is a dominant, negative inactivating mutation of \_\_\_\_
nephroblastomas are associated with **Denys-Drash syndrome** which is a dominant, negative inactivating mutation of **WT1**
81
describe the 2 phases of physiological jaundice
* **phase I = lasts 5 days in term infants and 7 days in preterm infants**
* serum bilirubin level may reach 12-15 mg/dl
* **phase II = decline of serum bilirubin levels, lasts for 2 weeks**
* after this, normal adults values are reached
82
\_\_\_\_ is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
**blueberry muffin baby** is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
83
$$ "baby with necrotizing enterocolitis; what is a risk factor for this?"
**low birth weight of baby**
84
list the top cause of death for children 1-14
**accidents**
85
list risk factors for respiratory distress syndrome
* prematurity
* perinatal asphyxia
* maternal diabetes
* Cesarean section before onset of labor
* twin gestation
* male sex
86
Crigler-Najjar type II disease is characterized by ____ of UDP-glucuronosyltransferase activity and can be treated with \_\_\_\_
Crigler-Najjar type II disease is characterized by **partial decrease** of UDP-glucuronosyltransferase activity and can be treated with **phenobarbital**
87
list methods to prevent respiratory distress syndrome
88
phenylketonuria is characterized by progressive ___ caused by a deficiency of the hepatic enzyme \_\_\_\_
phenylketonuria is characterized by progressive **mental retardation** caused by a deficiency of the hepatic enzyme **phenylalanine hydroxylase**
89
homeobox gene defect causes \_\_\_, ___ and ____ abnormalities
homeobox gene defect causes **limb**, **vertebral** and **craniofacial** abnormalities
90
a defect in Sonic Hedgehog Gene (SHH) causes \_\_\_\_
a defect in Sonic Hedgehog Gene (SHH) causes **holoprosencephaly**
91
erythroblastosis fetalis is \_\_\_-induced hemolytic disease in the newborn that is caused by \_\_\_\_
erythroblastosis fetalis is **antibody**-**induced** hemolytic disease in the newborn that is caused by **blood group incompatibility between mother and fetus**
92
Crigler-Najjar type I disease is characterized by ____ of UDP-glucuronosyltransferase activity
Crigler-Najjar type I disease is characterized by **complete absence** of UDP-glucuronosyltransferase activity
93
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as ____ and \_\_\_\_
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as **malrotation of abdominal viscera** and **congenital heart disease**
94
list 3 methods to prevent bronchopulmonary dysplasia
gentler ventilation
glucocorticoids
prophylactic surfactant
95
x-ray or CT of the abdomen in a patient with neuroblastoma would show \_\_\_\_
x-ray or CT of the abdomen in a patient with neuroblastoma would show **calcification**
96
\_\_\_\_ amplification in neuroblastoma has a poor prognosis
**MYCN** amplification in neuroblastoma has a poor prognosis
97
**\_\_\_\_** is the most commonly fractured bone during labor
**the clavicle** is the most commonly fractured bone during labor
98
a germline mutation in ____ gene causes a familial predisposition to neuroblastoma
a germline mutation in **ALK** gene causes a familial predisposition to neuroblastoma
99
in neonatal intraventricular hemorrhage, there is bleeding into \_\_\_\_
in neonatal intraventricular hemorrhage, there is bleeding into **the germinal matrix with extension into ventricles and beyond**
germinal matrix = source of nerve cells in embryo and fetus (up to 33 weeks of gestation)
100
why do children generally have a better prognosis than adults when it comes to cancers? (2 reasons)
**difference in tumor type between children and adults**
**increased ability of children to tolerate therapy**
101
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then \_\_\_\_, ____ and \_\_\_\_
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then **hepatosplenomegaly**, **jaundice** and **hypoglycemia**
102
\_\_\_\_ is the most common cause of hypogonadism in males
**Klinefelter syndrome** is the most common cause of hypogonadism in males
103
Turner syndrome occurs due to partial or complete \_\_\_\_
Turner syndrome occurs due to partial or complete **monosomy of genes on the short arm of the X chromosome**
104
there is a ____ odor associated with PKU
there is a **mousy/musty** odor associated with PKU
105
list the top cause of deaths for children under 1 year
**congenital malformation, deformations, chromosomal abnormalities**
106
environmental risk factors for SIDS is ____ sleep position; name 3 other RFs
environmental risk factors for SIDS is **prone** sleep position
- hyperthermia
- sleeping with parents when \< 3 months
- sleeping on a soft surface
107
in erythroblastosis fetalis, ____ reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of \_\_\_\_
in erythroblastosis fetalis, **fetal RBCs** reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of **antibodies that can freely traverse the placenta to the fetus and cause hemolysis**
108
Dubin-Johnson syndrome is an autosomal (dominant or recessive?) disorder characterized by chronic or intermittent jaundice and accompanied by a \_\_\_\_\_
Dubin-Johnson syndrome is an **autosomal** **recessive** disorder characterized by **chronic or intermittent jaundice** and accompanied by a **black liver**
109
\_\_\_ causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
**retinoic acid** (for acne) causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
110
a complication of galactosemia is ___ and \_\_\_\_
a complication of galactosemia is **cataracts** and **mental retardation**
111
describe the correlation between APGAR score and mortality during the first 28 days
112
in neuroblastoma, increased expression of ____ indicates good prognosis
in neuroblastoma, increased expression of **tyrosine kinase receptor A (Trk-A, neurotrophin receptor)** indicates good prognosis
113
in CF patients, ____ occurs due to impaction of ___ in the terminal ileus with subsequent risk of perforation and peritonitis
in CF patients, **meconium ileus** occurs due to impaction of **meconium** in the terminal ileus with subsequent risk of perforation and peritonitis
114
describe 22q11.2 deletion syndrome
115
list predisposing factors for neonatal necrotizing enterocolitis (NEC)
intestinal ischemia
bacterial colonization of the gut
administration of formula feeds
116
retinoic acid interferes with ____ pathway which is involved in \_\_\_\_
retinoic acid interferes with **TGFB signaling** pathway which is involved in **palatogenesis**
117
describe the presentation of retinoblastoma
white pupil = leukocoria
squint = strabismus
poor vision
spontaneous hyphema = hemorrhage into the anterior portion of the eye
118
neuroblastoma can metastasize early, with spread to:
bone
lymph nodes
liver
BM
subcutaneous tissue
119
in SIDS, multiple ____ are seen in which 3 locations?
in SIDS, multiple **petechiae** are seen in:
## Footnote
**thymus**
**visceral/parietal pleura**
**epicardium**
120
describe the clinical features in Down syndrome
121
on histology of neuroblastoma, there are ____ which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
on histology of neuroblastoma, there are **Homer-Wright pseudorosettes** which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
122
deficiency of phenylalanine hydroxylase results in ____ and formation of \_\_\_\_; of the 2 ____ causes irreversible brain damage
deficiency of phenylalanine hydroxylase results in **hyperphenylalaninemia** and formation of **phenylketones**; of the 2 **hyperphenylalaninemia** causes irreversible brain damage
123
describe deformation
name maternal and fetal examples
localized or generalized compression of the growing fetus by abnormal biomechanical forces
124
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of \_\_\_\_
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of **coproporphyrins**
125
the most common cause of unconjugated hyperbilirubinemia in neonates is \_\_\_\_
the most common cause of unconjugated hyperbilirubinemia in neonates is **fetomaternal blood group incompatibility (hemolytic disease of newborn)**
126
a risk factor for SIDS in an infant is ___ abnormality associated with defective \_\_\_\_/\_\_\_\_ control
a risk factor for SIDS in an infant is **brainstem** abnormality associated with defective **arousal**/**cardiopulmonary** control
127
neonatal necrotizing enterocolitis commonly affects which 3 areas?
terminal ileum
cecum
right colon
