inpatient week 5 Flashcards
1
Q
tricuspid atresia associated syndromes
A
trisomy 18,21
chromosome 8 deletion
2
Q
tricuspid atresia presentation
A
first day of life – first month
cyanosis, difficulty feeding, FTT
3
Q
tricuspid atresia most common type
A
type 1: VSD, ASD, normal great arteries
4
Q
tricuspid atresia workup
A
pulse ox, ABG, CXR, ECG
5
Q
tricuspid atresia physicla exam
A
central cynaosis
tachypnea
holosystolic murmur at LLSB
6
Q
tricuspid atresia complications
A
FTT, cyanosis
HF, endocarditis
death
7
Q
tricuspid atresia initial management
A
oxygen, prostaglandin E1, metabolic corrections
8
Q
ecg in newborns
A
RV larger than LV
RAD
9
Q
ecg in tricuspid valve atresia
A
LAD, absent precordial R waves
10
Q
When do patients with severe combined immunodeficiency typically present?
A
by age 3 months
11
Q
what is scid
A
absent T cells
abnormal antibody function
12
Q
What is the most common genetic type of severe combined immunodeficiency?
A
X-linked form
13
Q
What laboratory findings are associated with severe combined immunodeficiency?
A
very low or absent WBCs & immunoglobulins
14
Q
SCID classification
A
whether or not B cells are functional
15
Q
SCID treatment
A
prophylactic antibitoics
IVIG
BMT
16
Q
SCID PE finding
A
absent thymic shadow
17
Q
lab work up for breath holding spells
A
ferritin, CBC (thinking iron def anemia)
18
Q
chlymadial conjunctivitis presents
A
5-14d after bith
19
Q
chlamydial conjunctivitis treatment
A
14d course of erythromycin
20
Q
McCune Albright Syndrome mutation
A
alpha sunbunit of G protein that activates adenylate cyclase
21
Q
meds for McCune Albright Syndrome
A
aromatase inhibitors
22
Q
complications of McCune Albright syndrome?
A
thyrotoxicosis
gigantims or acromegaly
cushing syndrome
hypophosphatemic rickets
23
Q
other organs involved in McCune Albright syndrome?
A
liver - cholestasis, hepatitis
heart - arrythmias
24
Q
tanner stage 1
A
Tanner stage 1 is prepubertal, characterized by breast development of only a papilla (nipple) and no pubic hair development.
25
tanner stage 2
During Tanner stage 2 there is breast budding with areolar enlargement and slight growth of fine labial hair.
26
Tanner stage 3
During Tanner stage 3 there is further breast and areolar enlargement and further growth of pubic hair.
.
27
tanner stage 4
During Tanner stage 4 there is further breast enlargement with the areola and papilla forming a second growth above the level of the breast. The pubic hair becomes more coarse and spreads over much of the pubic region.
28
tanner stage 5
Tanner stage 5 is characterized by mature breast, where the areola recedes to the level of breast while the papilla remains extended. Pubic hair in this stage is coarse and extends from pubic region to medial thighs
29
CHARGE genetic defect
CHD-7, chromatin remodeling
30
VACTERL diagnosis
at least 3 factors
31
VACTERL risk factors
diabetic mothers
| fanconi anemia
32
Charge diagnosis
colobloma, choanal atresia, ear abn, CN defects
33
common presentation of FTT
poor growth, weight decrease that crosses 2 major percentile isobars
34
Wiskott-Aldrich syndrome genetic defect
WASP protein (actin)
35
What is Wiskott-Aldrich syndrome
X linked
| low levels of IgM ig
36
Wiskott-Aldrich syndrome patient presentation
recurrent infections
eczema
easy bleeding
37
Wiskott-Aldrich syndrome lab findings
decreased platelets, igm
| normal/high other igs
38
Wiskott-Aldrich syndrome treatment
splenctomy
antibiotics
IVIG
BMT
39
retropharyngeal abscesses organisms
polymicrobiol - strep and staph
40
retropharyngeal abscesses in what age group
2-4
41
retropharyngeal abscesses diagnosis
physical exam
elevated WBC
xray and/or CT
42
retropharyngeal abscesses on lateral neck radiograph
loss of cervical lordosis
enlarged prevertable space
retropharyngeal space greater than 14mm at c6 level
43
PE findings of retropharyngeal abscesses?
swelling of oropharynx
anterior CLAD
trismus
44
symptoms of retropharyngeal abscesses?
dysphgia, drooling, dyspnea
torticollis
hot potato voice
trismus
45
CT scan of retropharyngeal abscesses?
abscess with rim enhancement
| extension into mediastinum
46
treatment of retropharyngeal abscesses?
amp-sublactam or clinda
| if airway obstruction, surgical drainage
47
consequence of untreated retropharyngeal abscesses?
necrotizing mediastinitis
48
normal urinary protein excretion in neonates
up to 300mg/m2
49
normal urinary protein excretion in children
100mg/m2
50
If an afebrile child has trace proteinuria on urine dipstick, what is the first step?
repeat teast on first morning void in one year
51
In a child with an elevated protein/creatinine ratio, what is the next step after an abnormal evaluation?
peds nephro
52
In a child with an elevated protein/creatinine ratio, what is the next step after a normal evaluation?
repeat urine dipstick on at least 2 additional samples
53
If an afebrile child has a total protein/creatinine ratio less than 0.2 mg, when should the repeat urine dipstick be done?
one year
54
If an afebrile child has +1 proteinuria on urine dispstick, what is the next step?
morning urine sample to measure total protein/creatinine ratio and UA
55
If the total protein/creatinine ratio is more than 0.2 mg in an afebrile child what tests should be considered?
BP
Cr/BUN/electrolytes/albumin
c3/c4, ana, Hep b, c
renal ultrasound
56
transient proteinuria associated with
fever, excercise, seizures, and/or hypovolemia
57
trisomy 18 clinical presentation
rocker bottom feet, microcephaly
micrognathia
closed first, index overlapping 3d, 5d overlaps 4th
58
trisomy 18 ultrasound findings
nuchal translucency
59
trisomy 18 diagnosis
first trimester screening
60
prenatal findings associated with trisomy 18
oligohydroaminos
single umbical artery
IUGR
61
trisomy 18 gender predominance
females
62
trisomy 18 cardiac findings
corctation/overriding aorta
| PAD, ASD, VSD
63
What are the most commonly deficient terminal complement factors in the United States?
c5,6,8
64
What is terminal complement deficiency?
def of c5-9, can't form membrane attack complex
65
test to screen for terminal complement deficiency
total hemolytic component assay (THC or CH50)
66
terminal complement deficiency vaccinations
meningococcal
pneumococcal
Hib
67
terminal complement deficiency presentation
recurrent infections with neisseria
68
What is the typical presentation of infant with biliary atresia?
jaundice developing within first two months of life
69
biliary atresia =
idiopathic destruction of extrahpeatic biliary tree leading to biliary obstruction
70
biliary atresia associated lab findings
con bili more than 2
mild increases in LFTs
increased gamma-glutamyl transferase
71
What should be done immediately after biliary atresia has been confirmed by cholangiogram?
```
Kasai procedure (before 8wks)
delay need for liver transplant
```
72
how to assess biliary obstruction in biliary atresia
cholangiogram
73
biliary atresia other symptoms
pale stools
dark urine
enlarged liver
74
rx for biliary atresia
UDA
75
How is prehypertension defined in the adolescent population?
systolic and/or diastolic blood pressure in the 90th to 95th percentile range, or any blood pressure exceeding 120/80 mm Hg.
76
What findings on the routine adolescent health screening exam allow the provider to make a diagnosis of hypertension?
s systolic and/or diastolic blood pressure in the 95th percentile or greater.
77
What is considered overweight in the adolescent population?
BMI in 85th-95th percentile range
78
When should adolescents routinely be screened for lipid disorders?
all children should be screened for high cholesterol once between the ages of 9-11 and then again between the ages of 17-21
79
What risk factors would indicate screening and adolescent patient for diabetes mellitus (DM), and what would be an appropriate way to do so (ie in terms of lab tests)?
Overweight children older than 10 with any of the following additional risk factors should be screened for diabetes mellitus (DM) with a fasting plasma glucose (FPG), oral glucose tolerance test (OGTT), or HbA1c for patients who are not fasting:
First- or second-degree relative with a history of type 2 DM
High-risk ethnicity (eg African-American, Hispanic)
Acanthosis nigricans
Polycystic ovarian syndrome (PCOS)
80
What constitutes obesity in the adolescent population, how often should these patients be screened for it?
screen yearly
| BMI 95th percentile or greater
81
What are the elements that should be included in the adolescent psychosocial interview?
home enivronment, education, employment, eating, excercise, activities/peer involvement, drugs, alcohol, sexuality, suicidality
82
iron def in kids
excessive cow milk intake
| rdw greater than 20%
83
meconium ileus test and findings
contrast enema, microcolon
84
ALL cell markers
+PAS
| +Tdt
85
Measles blood findings
leukopenia, thrombocytopenia
86
child abuse, burns spare the
flexor surfaces
87
CD19
B lymphocytes
88
vaginal foreign body, next step
irrigation with warm h20
89
Jones criteria
joints, carditis, nodules, erythema marginatum, synden chorea
90
pediatric viral myocarditis
coxsackie b or adenovirus
91
HSP, risk for
intsussception
92
B3 def
niacin
pellagra - dermatitis, diarrea, dementia/delusions
glossitis
93
B2 def
riboflavin
| angular cheloiosis, glossitis, normocytic anemia, seborrhic dermatitis
94
Trachoma
chlaymdia follicular conjunctivitis and neovascularization
95
trachoma treatment
topical tetracycline
| oral azithromycin
96
hep b vertical transmission treatment
hep IG and hep B vaccine
97
pneumococcal sepsis prevention in SC
pneumo vaccine
| penicillin prophylaxis
98
WPW
delta wave
| healthy children with chest pain, palpitations, syncope
99
gastroschisis
lateral to umbilical cord
isolated defect
increased afp
100
gastroschisis complications
NEC, short bowel syndrome, dysmotlity
101
iron poisoning symptoms
30min-4d
| vomit (hematemesis), diarrhea, metabolic acidosis
102
iron poisonin treatment
whole bowel irrigation
| deferoxamine
103
150-300 words
24 months
104
radiopaque pills
iron
105
premature adenarche
body odor, acne, pubic hair, oily skin
| adrenal glands
106
pathophyis of achondroplasia
abnormal production by chondroblasts during endochrondral bone formation at growth plate
107
Hartnup disease - additional recs
Niacin/B3 supplement
| avoid sunlight
108
hepatoblastomas respond to
cisplatin
109
PE for achondroplasia
normal trunk
midface hypoplasia
humerus/femur shorter
bowed legs
110
hartnup - primary def
tryptophan
111
achondroplasia treatment
bracing, operative treatment
112
Hartnup presentation
asymptomatic
| cutaneous and neuro symptoms
113
Hartnup disease - cutaneous findings
photosensitivity
facial lesions similar to malar rash
hypo/hyperpigmented lesions
114
Hartnup newborn screen
check urine for increased levels of neutral AAs and indican
115
hartnup management
high protein diet
116
What process is impaired in fructose 1,6 bisphosphatase deficiency?
impaired gluconeogenesis NOT glycogenolysis
117
What enzyme is deficient in hereditary fructose intolerance?
fructose 1-phosphate aldolase
118
The clinical presentation of fructose 1,6 bisphosphatase deficiency is similar to what glycogen storage disease?
Von Gierk disease
| FTT, lactic acidosis, ketosis, HLD, hyperuricemia
119
When do children with hereditary fructose intolerance typically present?
hypoglycemia and vomiting when sugars are added to the diet
120
How is pyruvate carboxylase deficiency treated?
poor prognosis
| vitamin supplements and liver transplant
121
What are the clinical features of pyruvate carboxylase deficiency?
severe developmental delay
necrotizing encephalopathy
death in early infancy
122
What metabolic step is compromised in hereditary fructose intolerance?
Fructose 1-phosphate into dihydroxyacetone phosphate and glyceradlehyde
123
How is galactosemia treated?
dietary restriction of lactose and galactose
124
How is hereditary fructose intolerance managed?
removing fructose from diet
125
How is hereditary fructose intolerance diagnosed?
detecting the mutation of aldolase B gene on chromosome 9
126
When does hypoglycemia occur in fructose 1,6 bisphosphatase deficiency?
during calorie restriction
127
What symptom is occasionally seen with pyruvate carboxylase deficiency?
inconsistently caused hypoglycemia
128
What is the treatment for fructose 1,6 bisphosphatase deficiency?
frequent high carb meals
129
What is the most common cause of galactosemia?
```
can't covernt galactose to glucose
def of GALT
```
130
galactosemia symptoms
hypoglycemia
diarrhea
vomiting after ingesting lactose or galactose
131
What complications can result from untreated galactosemia?
lenticular catarcts
MR
amino aciduria
132
What are the congenital malformations seen in Diamond-Blackfan anemia?
pretty much anything
133
How is Diamond-Blackfan anemia inherited?
sporadic
| AD when inherited
134
Before doing any lab tests, what are two clues from the history and physical exam that a patient has Diamond-Blackfan anemia rather than transient erythroblastopenia of childhood?
before 1 year of age
| no congential abnormalities
135
s the reticulocyte count increased or decreased in a patient with Diamond-Blackfan anemia?
decreased production = low retics
136
What is seen on CBC of a patient with Diamond-Blackfan anemia?
macrocytic pure red cell aplasia
137
What complication from Diamond-Blackfan anemia can arise much later in life?
higher risk of malignancy
138
What two lab values can help differentiate Diamond-Blackfan anemia from transient erythroblastopenia of childhood and other causes of childhood anemia?
hgb F concentration
| erythrocyte adenosine deaminase
139
What is seen on bone marrow biopsy of a patient with Diamond-Blackfan anemia?
small marrow cellularity with a decreased amount of erythoid precursors
140
If a patient is known to have Diamond-Blackfan anemia, what is the next step in genetic testing?
screen family genetically
141
What pharmacological therapy is initiated to attempt to treat Diamond-Blackfan anemia?
corticosteroids
142
acidified glycerol lysis test
HS
143
abnormal eosin 5 maleimide binding test
HS
144
Serum Sickness like rxn
antibiotic use
| fever, urticara and polyarthralgia
145
relief of neck with hyperextension
epiglottis
146
breast fed infants supplement
vitamin d and iron
147
begin toilet training at age
2
148
bed wetting usually ends by age
5
149
caustic ingestion management
remove clothes
cxr if resp symptoms
endoscopy within 24 hrs
150
congenital hypothyroidism etiology
thyroid dysgenesis
151
bed wetting therapies
1 - enuresis alarm
2 - desmopression
3 - TCA
152
kartagenesis syndrome
situs inversus, recurrent sinusitis, bronchiectasis
153
most common findings with hypothyroidism
```
hoarse cry
potbelly/abd distension
jaundice
macroglossia
enlarged fontanelles
```
154
How does the inheritance pattern of congenital hypothyroidism caused by thyroid dysgenesis differ from that of congenital hypothyroidism caused by defects in thyroid hormone synthesis and secretion?
dysgenesis - sporadically
| hormone -- hereditary, AR
155
What are the “classic” (test/textbook) physical exam findings in congenital hypothyroidism?
protruding tongue, umbilical hernia, myxedema
156
What are the possible etiologies of a transient hypothyroidism in early infancy?
anti-thyroid drugs
iodine exposure
large hepatic hemangiomas
mutations in dual oxidase gene
157
central congenital hypothyroidism labs
low Free t4 and tsh
158
most common physical exam findings in infants wiht congenital hypothyroidism
normal
159
What are some less common etiologies of congenital hypothyroidism?
resistance to TSH or thyroid hormone
| central hyptothyroidism
160
How is congenital hypothyroidism most commonly diagnosed today?
newborn screening that measures t4 and tsh
161
What sub-groups of congenital hypothyroidism patients have poor neurodevelopmental outcomes?
severely affected
| treated inadequately
162
What imaging studies can aid in the diagnosis of congenital hypothyroidism?
radionucleide imaging
| ultrasound
163
What laboratory findings would indicate subclinical congenital hypothyroidism?
normal t4
| elevated tsh
164
Which gender is more often affected by congenital hypothyroidism?
females
165
What are the typical symptoms of congenital hypothyroidism at birth?
asymptomatic at birth
166
Why is congenital hypothyroidism often asymptomatic at birth?
maternal t4 crosses the placenta
| some functioning thyroid tissue
167
Over what period of time will neurologic damage occur to an infant with congenital hypothyroidism?
untreated for first 2-3 years of life
168
SGA complications
hypoxia, meconcium aspiration
hypoglycemia, hypothermia, hypocalcemia
polycythemia
169
polycythemia in SGA
increased EPO due to decrease oxygen
170
Single S2
transposition of great vessels
171
intussception in older kids
meckels
172
contact dermatitis type of reaction
type IV / cell mediated / delayed
173
ITP in kids
skin only observe
| bleeding IVIG or steroids
174
large VSD heart sounds
holysystolic murmur at LLSB
| diastolic rumble
175
breast milk jaundice occurs at
3-5 d
| peaks at 2 weeks
176
breast feeding failure jaundice
1st week of life
177
urate crystals due to
dehydration
178
viral meningitis causes
enteroviruses: echovirus and coxsackie virus
179
milk/soy protein entercolitis age
2-8weeks
180
milk/soy protein enterocolitis other symptoms
blood stools and eczema
181
milk/soy protein enterocolitis can resolve by
age 1
182
CF most common pathological organism in kids
S AUREUS
183
cholesteatoma
granulation tissue, skin debris
184
GER treatment
reassurance and positioning
185
GERD symptoms
FTT
irritability
sandifer syndrome
186
GERD treatment
thickened feeds
antacids
esophageal pH probe
upper endoscopy
187
duration of breast feeding
exclusive for 6 months
| 1 year or longer
188
colostrum vs breast milk
```
secreted days 1-2
more protein (IgA), lactose, lower fat
```
189
breast engorgement occurs
d2-5 after bith
190
prevention of milk secretion during stage 1 of lactogenesis
high levels of progesterone
191
mom's benefits of breast milk
decreased risk of ovarian and breast cancer
192
breast milk supplementation
vit K at birth
vitamin d
fluoride after 6 m
iron from 4-12 months
193
contraindications to breast feeding
HIV
galactosemia
breast cancer and chemo
194
cause of breast milk jaundice
inhibitor of bilirubin conjugation present in human milk
195
most common causes of choanal atresia
abnormalities in pterygoid plates
| midfacial growth abnormalities
196
management of choanal atresia
placement of oral airway, gavage feedings
| surgery
197
number of bilateral cases of choanal atresia
1/3
198
gender for choanal atresia
female
199
What congenital anomaly syndromes is choanal atresia associated with?
Charge, Vacterl
Kallman
Treacher-Collins
200
presentation of unilateral choanal atresia
unilateral nasal discharge or obstruction
201
choanal atresia diagnosis
pass french catheter
| CT with intranasal contrast
202
In what settings are you more likely to see adult foreign body inhalation?
settings which impair cough reflex
203
foreign body inhalation CXR
collapsed lung
204
foreign body inhalation PE
unilateral wheeze
| asymmetrical chest expansion
205
Where in the respiratory tract is a foreign body most commonly found during foreign body inhalation?
right bronchus
206
What is the first line management of a patient with acute foreign body inhalation who is in distress?
heimich maneuver
207
What investigation will you request if you suspect a foreign body inhalation?
bronchoscopy under general anesthesia is
208
What are complications of a delayed diagnosis of an inhaled foreign body?
infection distal
bronchiectasis
ptx
209
Cri-du-chat
deletion of 5 p
| cat cry + microcephaly
210
Gonococcal vs Chlyamdia days after birth
G - 2-5 d
| C 5-14d
211
Gonococcal vs Chlyamdia drainage
G - purulent,C - watery
212
reactive arthritis after
urethritis or diarrhea
213
migratory muscle aches and painful joint
lyme
214
Jervell Lange Nelsen syndrome
prolonged QT, death
| treat with propanol and pacemaker
215
Beckwith-Wiedemann Syndrome symptoms
macrosomia, macroglossia, hemihyperplasia
216
Beckwith-Widemann Syndrome complications
Wilms and hepatoblastoma
| screen with abd u/s and alpha feta protein
217
benign astrocytoma
infratentorial = inside brain
218
myotonic dystrophy
age 12-30
| dysphagia, facial weakness, hand grip weakness
219
pinealoma
limited upward gaze, ptosis, upper eyelid retraction
220
thalesemmia and RDW
normal
221
Giardia infect
iga def
222
rheumatic fever, first step
penicillin
223
Di George syndrome
conotruncal cardiac defects, abnormal faces, thymic hypo/aplasia, cleft palate, hypocalcemia
224
cervical lymphadenitis most common cause
s aureus
