2016 Pearls Flashcards
1
Q
Which growth chart is preferred for infants under 24 months?
A
World Health Organization (WHO) growth charts better reflect “ideal growth” of breastfed infants and are superior to US Centers of Disease Control and Prevention growth charts. The WHO charts should be used to assess growth of children younger than 2 years of age.
2
Q
What is the best assessment of acute undernutrition in a child under 3yo?
A
For children younger than 3 years of age, the best assessment of acute undernutrition is a weight-for-height below the fifth percentile.
3
Q
A teen comes to clinic with the following symptoms three weeks after unprotected sex: mucopurulent cervical discharge, intermenstrual bleeding, cervical friability, and lower abdominal pain. Likely Dx?
Recommended test and tx?
A
Gonococcal Cervicitis
nucleic acid amplification test and treatment with ceftriaxone 250 mg intramuscularly as a single dose and azithromycin 1g orally as a single dose (this is for Chlymadia co-infection)
4
Q
What is the treatment for gonoccocal cervicitis?
A
CTX 250mg X1 IM,oral cephalosporins are no longer recommended as first-line medications for treatment of N gonorrhoeae because of the concern for resistance.
5
Q
What is the treatment for Chlamydia
A
either azithromycin 1 g orally as a single dose (preferred) or doxycycline 100 mg orally twice a day for 7 days.
6
Q
Child with small bowel resection presents for lab follow up, he is on TPN + some GJ feeds and is found to have anemia with MCV of 100. What vitamin is he likely deficient?
A
Vit B12
7
Q
A 24-hour-old newborn with progressive obtundation, seizures, and tachypnea. Pregnancy, labor, and delivery were uneventful. The newborn initially did well during the first several hours after birth, but then became lethargic, hypothermic, and developed poor feeding. Results of a CMP including glucose, complete blood cell count with differential, and C-reactive protein and Anion gap are all normal with VBG showing respiratory alkalosis… what lab should you get?
A
Serum Ammonia
classic presentation of a urea cycle disorder, with decompensation in the first 24 to 72 hours of life with progressive respiratory alkalosis, obtundation, and hyperammonemia, in the presence of a normal anion gap.
8
Q
How do urea cycle disorders present in neonate?
A
Urea cycle disorders clinically manifest with immediate decompensation in the first 24 to 72 hours of life with progressive respiratory alkalosis, obtundation, and hyperammonemia in the presence of a normal anion gap
9
Q
What is the inheritance pattern of urea cycle disorders?
A
All of the urea cycle disorders are autosomal recessive, except OTC, which is transmitted by X-linked recessive inheritence.
10
Q
New born does well initially then has vomiting, poor feeding and lethargy. Labs show metabolic acidosis, ketosis, hyperammonemia with elevated LFTs and low BG with neutropenia. Likely cause?
A
Organic acidemias or organic acidurias
11
Q
Newborn presents with jaundice, HYPOtonia, bruising and bleeding. You obtain CMP showing markedly elevated LFTs and INR is very prolongued. On eye exam you see cataracts. Dx?
A
Galactosemia
12
Q
What bacteria are patients with galactosemia at increased risk of getting sepsis from?
What lab abnormalities do you see?
A
Escherichia coli
Labs: positive urine-reducing substances, abnormal liver function studies, coagulation abnormalities suggestive of a progressive bleeding diathesis, elevated erythrocyte galactose-1-phosphate
13
Q
Patient presents with recurrent bacterial infections: 5 episodes of AOM, 3 abscess formations, 2 episodes of PNAs. CBC shows normal neutrophil count. What is the gold standard for diagnosis and treatment of this child?
A
The gold standard for diagnosing and initial management of CGD (innate immune dsfnx) is testing the phagocyte oxidative burst by flow cytometry and initiating prophylaxis with trimethoprim and sulfamethoxazole.
14
Q
Patient presents with recurrent bacterial infections: 5 episodes of AOM, 3 abscess formations, 2 episodes of PNAs. CBC shows normal neutrophil count. What is the inheritance pattern of this disease
A
Chronic granulomatous disease is a genetic disorder that can be transmitted by X-linked or autosomal recessive inheritance. The X-linked form is by far the most common
15
Q
The______ immune system is comprised of barriers such as skin and mucosal membranes, and phagocytes such as the neutrophil, macrophage, and natural killer cells. Dysfnx here results in ____ infections
A
innate
frequent bacterial or fungal
16
Q
The _____immune system is comprised of B and T lymphocytes and their subsets; dsynx here results in _____ infections
A
adaptive
abnormal viral infections
17
Q
Pain with activity or lumbar extension in adolescents with anatomical cause is _______
You would order this image/study____
A
Spondylosis (crak in pars interarticularis = posterior aspect of vertebral ring)
Order XRAY~ 50-60% sensitivity
Get MRI if XRAY not conclusive but strong clinical suspision
18
Q
Autosomal recessive condition with skeletal abnormalities, neutropenia, short stature and exocrine pancreatic insufficiency
A
Shwachman-diamond syndrome
19
Q
EPI or exocrine pancreatic insufficiency occurs when lipase secreation <90% resulting in: fat malabsorption, wt loss,FTT, fat-soluble vitamin deficiency. EPI seen in which diseases
A
Cystic fibrosis chronic pancreatitis Johanson-Blizzard syndrome (HypoT, DD) Pearson syndrome (anemia, organ abnormalities) Schwachman Diamond
20
Q
How do we treat exocrine pancreatic insufficiency?
A
PERT (pancreatic enZ replacement Therapy) and supplment fat soluble vit
21
Q
How many doses of IPV are recommended and at what age?
Minimum interval between doses?
A
4 total at 2, 4, 6 to 18 months and AFTER 4th birthday (4-6 years)
Minim 4 weeks between 1/2, 2/3
Minimum 6 months between 3/4
If 4th dose BEFORE 4th bday, will need another dose
22
Q
Who needs an IPV booster if they are fully immunized?
A
Before travel to polio endemic areas for at least 4 weeks, travelers should get single lifetime booster
23
Q
Which infants are at increased risk for polycythemia?
A
Hct >65%
Hypoxic environment; high elevation delevier area, >40 weeks GA, SGA, IDM, mHTN, tobacco exposure
Tri 13, 18, 21
Neonatal Graves, CAH, CCHD, hypoT
24
Q
Indications for tx polycythemia in newborn?
A
symptomatic with HcT >60% or Asymptomatic >70%
-tx with partial exchange transfusion
Signs of polycythemia; irritable, tachypnea, hypoglycemia, lethargy, pulm HTN, stroke, seizure, renal vein thrombosis 2/2 hyperviscosity
25
What diagnostic test should be performed on school age child you suspect has asthma?
Spirometry; gives objective info about airway obstruction... repeat 15 to 20 minutes after administration of inhaled bronchodilator to establish reversible airflow obstruction
26
Pediatric melanoma often do NOT exhibit typical ABCD detection criteria and often appear:
Pink, red or papular/nodular, have uniform color and smooth borders with "EFG" characteristics
Elevated, Firm, Growing progressively >1 month; may be amelanotic or nodular melanoma
27
CHARGE stands for:
| Inheritance pattern:
Coloboma, Heart defect, choanal Atresia, Retarded growth/devo, Genital anomalies, Ear anomalies
Autosomal DOMINANT
28
Define Kocher Criteria
5 characteristics for Septic Arthritis (pyogenic arthritis) of hip
1. T >38.5
2. WBC >12,000
3. ESR >40
4. Inability to ambulate
5. CRP > 2.5 mg/L
* Higher inflammatory markers more likely pyogenic vs transient synovitis
29
Commonly implicated organisms in pyogenic arthritis (septic arthritis)
Staph Aureus, Streptococcal species
| Kingella in kids <2yo
30
Athletes are considered functionally 1-eyed if corrected vision is worse than ____ in one eye.
What are high risk eye injury sports
< 20/40
| Baseball, basketball, hockey and lacrosse
31
Infant presenting with feeding difficulties, liver damage, cataracts and signs of shock liver
Concern for galactosemia; inborn error metabolism
32
Infant with hypoglycemia, liver failure/dx, poor growth starting around age 6 months, previously exclusively breast fed
Concern for Fructose intolerance
33
____ is teh absence of the iris and associated with WAGR syndrome
Aniridia
| Wilms tumor, Aniridia, Genital anomolies, Retardation
34
____ is devo defect of eye, one or more ocular structures are missing and associated with which syndrome?
```
Coloboma
CHARGE (Coloboma, Heart defect, choanal Atresia, growth Retardation, Genital anomalies, Ear anomalies)
```
35
___ optic neuropathy associated with elevated intraoccular pressure
Glaucoma
primary congenital, infantile, juvenile are rare
Secondary glaucoma from Sturge-Weber, aniridia and ROP can occur
36
Metabolic dx associated with cataract
Galactosemia, hypoPTH, hypoG, DM, intrauterin infections (TORCH) or genetics such as trisomy 13, 18, 21
RF of low BW, IDM, ocular trauma or glucocorticoids in utero
37
Patient presents with swelling of face and arms, cough, difficulty breathing while laying down
concern for Superior Vena Cava compression
- often 2/2 to mass
- Concern for maintaining patency of RA; you can collapse RA by negative intrathoracic pressure, gravity (laying supine or sedation avoided!)
38
Child comes in with tripodding, drooling and thumb sign on lateral neck xray.
Dx____
Would you do antiBx, IM dex, 100% oxygen first to stablize pt?
Epiglottitis
Give oxygen and immediately consult someone to establish a stabalized airway
Dex is not shown to improve outcomes. AntBx will be necessary but do NOTHING to aggitate the patient until airway stablized; <5yo will be intubation in all cases of epiglottitis
39
_______ or reduced visual acuity due to abnormal visual development early in life, is the most common cause of visual impairment in children. It can be caused by strabismus, refractive errors that differ significantly between the 2 eyes, or by interruption of the visual axis.
Amblyopia
40
Although it is normal for infants to have a disconjugate gaze in the first 2 to 4 months after birth, eye movements should be conjugate by
6 months
41
______-associated epidemic keratoconjunctivitis is very contagious; infection can result in hospital and community outbreaks
Adenovirus
Epidemic keratoconjunctivitis can occur after direct contact with infected health care workers or contaminated equipment during eye examinations.
42
______ sequence describes pulmonary hypoplasia, growth restriction, compressed facies, and abnormal positioning of the hands and feet in neonates born to mothers with low amniotic fluid levels
Oligohydramnios
43
The extent of pulmonary hypoplasia in oligo/Potter is not proportional to
Neonates with pulmonary hypoplasia also may have _____
amniotic fluid levels in utero.
| pulmonary hypertension
44
In cases where the history is suggestive of exercise-induced asthma but there is not a good response to pretreatment with albuterol, the next most likely diagnoses are .....
VCD and anxiety, which manifest similar symptoms
45
______ are firm, noncompressible, slowly growing nodules located most often on or near the lateral eyebrow.
Lesions located in the midline (glabella, occipital scalp, midline back) or midline dermal sinuses require imaging to assess for central nervous system extension.
Dermoid cysts
46
Evaluation of thyroid nodules includes
a thyroid-stimulating hormone level, thyroid ultrasonography, and referral to a subspecialist experienced in the evaluation and management of pediatric thyroid nodules.
47
Thyroid nodules of_____ or greater warrant ultrasonography-guided fine needle aspiration.
1 cm
48
cancer is associated with the RET proto-oncogene and inherited in an autosomal dominant manner. Nodules that are firm, irregular, or fixed or that show microcalcifications or irregular margins on ultrasonography confer increased risk for malignancy.
Medullary thyroid
49
Thyroid cancer occurs in about_____of thyroid nodules in children and adolescents, vs about 5% in adults.
_______ the most common thyroid cancer type in both children and adults, is more aggressive in childhood than adulthood but survival is better.
25%
| Papillary thyroid carcinoma
50
is an autosomal dominant connective tissue disorder with variable expression among members of the same family. Classic manifestations include ocular, cardiovascular, and skeletal involvement.
Marfan syndrome
51
Marfan syndrome, caused by mutations in the _____is clinically diagnosed based on family history and characteristic systemic findings.
FBN1 gene
52
In patients with Marfan syndrome, surveillance consists of
an annual comprehensive physical and an ophthalmologic (including slit-lamp) examination, and echocardiography
53
Contraindications to pertussis vaccine include
anaphylaxis following a previous vaccination or development of encephalopathy that cannot be ascribed to another reason in the 7-day period following pertussis vaccination. That said, there is no evidence that links pertussis vaccination with any acute-onset neurologic illness.
54
is felt to be largely responsible for the resurgence in cases of pertussis in the United States in the last few decades.
Waning immunity
Immunity to pertussis wanes over a period of 7 to 20 years after vaccination. Several epidemics in the United States have revealed high attack rates in the 7- to 10-year-old and 10- to 14-year-old age groups, coinciding with the expected timeframe for waning from the last dose of DTaP in the childhood series (4 to 6 years)
55
The primary treatment of children with posttraumatic stress disorder is
evidence-based trauma-focused psychotherapy, which involves a therapist working with both parent and child.
56
is diagnosed in children and adolescents who have experienced actual or threatened harm to themselves or others and who manifest symptoms of intrusive and uncontrollable thoughts, avoidance and distress with reminders of the trauma, and altered cognitions and mood for at least a month with resultant impairment in functioning.
Posttraumatic stress disorder
57
The Langley Model of Improvement is a framework for quality improvement that addresses 3 questions:
What are we trying to accomplish?
How will we know that a change is an improvement?
What changes can we make that will lead to an improvement using multiple, rapid Plan-Do-Study-Act cycles.
58
______requires looking at data or processes (ie, trends) over time.
Quality improvement
59
Symptoms of MILD _____deficiency include taste and smell impairment, night blindness, and depressed immunity.
zinc
60
Severe____ deficiency is associated with alopecia, bullous pustular dermatitis, diarrhea, and frequent infections due to a depressed immune system.
zinc
61
is an autosomal recessive defect in intestinal zinc absorption that presents with bullous acral dermatitis, growth failure, diarrhea, and infections.
Acrodermatitis enteropathica
62
____deficiency includes fragile or kinky hair, depigmented skin, myeloneuropathy (muscle weakness), edema, hepatosplenomegaly, and osteoporosis. Neurologic symptoms may also be present, such as ataxia, neuropathy, and cognitive deficits. Hematologic manifestations include microcytic hypochromic anemia and neutropenia.
Copper
63
Risk factors for developing copper deficiency include
gastrointestinal surgery (including bariatric surgery), chronic diarrhea or other malabsorptive disorders (including celiac disease), excessive zinc ingestion, or overtreatment of Wilson disease.
64
_____or “kinky hair syndrome,” is an X-linked genetic disorder resulting from a mutation in the transport protein facilitating copper uptake from the intestine; symptoms of copper deficiency in this disease develop in infancy.
Menkes disease,
65
Magnesium deficiency manifests clinically in a variety of manners:
Neuromuscular:
Cardiovascular:
Calcium metabolism:
tremor, tetany, muscle spasms/cramps, involuntary movements (athetoid or choreiform), convulsions, apathy, weakness, delirium, and coma
widening of the QRS complex and peaking of T waves, widening of PR interval, and atrial and ventricular arrhythmias
hypocalcemia, hypoparathyroidism, and parathyroid hormone resistance
66
_______with absent radius syndrome is a compound genetic disorder that presents with absent radii and severe______ in the neonatal period.
Thrombocytopenia
| thrombocytopenia
67
The thrombocytopenia in thrombocytopenia with absent radius syndrome tends to improve with time and may be resolved ...
after the first year of age.
68
an X-linked disorder that presents with thrombocytopenia with very small platelets, eczema, and an immune deficiency.
Wiskott-Aldrich syndrome:
69
an autosomal recessive disorder causing the absence of functional platelet glycoprotein Ib and a resultant absence of the platelet Ib/IX complex. This absence results in an inability to bind von Willebrand factor.
Bernard-Soulier syndrome:
70
is a giant platelet disorder, with platelets often exceeding the size of the red blood cell
Bernard-Soulier syndrome
71
Ingestion of even small amounts of a corrosive ___substance can result in serious penetrating injuries to mucosal and skin surfaces due to liquefaction necrosis. The most pressing clinical concern is the potential for airway and/or esophageal injury.
alkaline
72
Which is more likely to cause serious penetrating esopatheal injury; acidic or alkaline?
Which between bleach or drain cleaners/toilet bowl cleaners are worse?
Alkaline
| Drain cleaners/toilet bowl cleaners
73
_____ toxicity can be recalled with the mnemonic SLUDGE: salivation, lacrimation, urination, defecation/diarrhea, gastrointestinal upset, and emesis.
Cholinergic
74
Ingestion of an insecticide could result in_______ toxicity, characterized by clinical signs and symptoms related to the overactivation of cholinergic receptors by excess acetylcholine.
organophosphate
75
Lamp oil is a hydrocarbon-based product, and ingestion would primarily cause
respiratory distress due to pulmonary aspiration.
76
In acute situations, patients who ingest/aspirate a THIS present with coughing, gagging and choking. Physical examination findings may include fever, tachypnea, cyanosis, and abnormal lung sounds which may include crackles and wheezing. Direct CNS effects may lead to lethargy, seizures, or even coma.
Hydrocarbon (lamp oil)
77
is the most commonly identified risk factor for renal stones.
Urinary metabolic abnormality
78
High urinary concentrations of calcium, cystine, oxalate, and uric acid are associated with
crystal formation leading to renal stone formation.
79
______ is the most commonly identified metabolic cause of renal stones.
Hypercalciuria
80
Increased urinary excretion of citrate (most important), magnesium, and pyrophosphate is associated with____ risk for renal stone formation
decreased
81
The urinary metabolic evaluation requires a ______which is analyzed for the presence of solutes associated with increased risk for stone formation and for decreased excretion of inhibitors of renal stone formation.
24-hour urine collection,
Evaluation for an underlying metabolic abnormality in children with suspected renal stones is indicated irrespective of the imaging results.
82
For children between the ages of 2 years and 8 years who have a parent with a total cholesterol of 240 mg/dL (6.22 mmol/L) or greater, a fasting lipid profile should be obtained WHEN and how does this guide therapy?
obtain right then and then repeated after 2 weeks to 3 months, regardless of the result, because the average of these results should be used to dictate therapy
83
Oxygen delivery = _____x_____
Arterial oxygen content × Cardiac output
84
Cardiac output = ____x______
Stroke volume × Heart rate
85
Oxygen content = ( ) + _____ x_____
(1.34 × hemoglobin concentration × % oxygen saturation) + 0.003 × PO2
86
Oxygen consumption = _____ x _____
Cardiac output × (arterial oxygen content - mixed venous oxygen content)
87
An arteriovenous oxygen saturation difference of ____ to _____indicates normal cardiac output, whereas greater than _____indicates shock (the venous sample must be from a central venous source).
20 to 30%
>40%
88
What are the most common triggers of SJS and TEN?
Common triggers include nonsteroidal anti-inflammatory medications, sulfa-containing antibiotics, phenobarbital, carbamazepine, and lamotrigine, as well as infections with Mycoplasma pneumoniae, cytomegalovirus, herpes simplex virus, and hepatitis A virus.
89
Pt presents with fever, body aches last week then several days ago developed macules w/ purpuric centers that are now vesiculated and bullous. Lips are cracked and ulcers are noted in her mouth. She was recently started on Bactrim for a UTI. What are we worried about? What other organ systems are likely involved?
SJS (Bactrim/lamotrigine/NSAIDs/Phenobarb).
| Ocular signs and symptoms can include eye pain, photophobia, purulent conjunctivitis, keratitis, and endophthalmitis.
90
You dx a patient with SJS. What is the difference btwn SJS and TEN?
What is the leading cause of morbidity?
What is the treatment?
SJS is 10-20ish% skin involvement
TEN 30% or more involvement
Superimposed or secondary bacterial infection
Discontinue the causative agent and supportive cares
91
Common pathogens causing recreational water–associated outbreaks of acute gastroenteritis include
Cryptosporidium, Shigella, Giardia, norovirus, and Escherichia coli O157:H7.
NON-BLOODY!
92
______causes watery diarrhea among infants living in low- and middle-income countries, and is a common cause of traveler’s diarrhea in all age groups.
Enterotoxigenic E coli
93
Poor linear growth, headaches, and vision problems are common presenting symptoms of
craniopharyngioma
Growth hormone deficiency is the most common anterior pituitary hormone deficiency at the time of diagnosis, manifesting as growth problems
94
_______ is associated with normal childhood growth velocity at a percentile below that expected based on target height. Length may cross percentiles prior to age 3 years due to "channelling" into their childhood growth percentile.
Constitutional delay of growth and puberty
95
is associated with a bone age concordant with chronologic age and normal pubertal onset and progression. Final adult height is consistent with target height.
Familial short stature
96
_______ is the most common suprasellar tumor in childhood.
Craniopharyngioma
97
Craniophayngioma's originate from the ________ and are benign, but they can cause significant problems because of their location and mass effect. The peak incidence in childhood is between_____and____years of age.
remnants of Rathke’s pouch
| 5 and 14
98
To diagnose FAS, a physician should identify 3 cardinal features:
abnormal facial features, growth deficiency, and central nervous system problems.
99
is associated with intellectual disability, gait ataxia, microcephaly, severe speech delay, and a characteristic happy demeanor with inappropriate laughter and excitability.
Angelman syndrome
100
Facial features include low-set ears with fleshy helices, broad or webbed neck, and wide-spaced, downslanting eyes with epicanthal folds.
Common congenital heart defects include pulmonary valve stenosis, atrial septal defect, and hypertrophic cardiomyopathy.
Wide-spaced nipples and an unusual chest shape with superior pectus carinatum/inferior pectus excavatum are typical.
Noonan syndrome
101
Affected girls typically have normal early growth and development (6-18 months) followed by a characteristic slowing of development, loss of purposeful hand movements, distinctive hand wringing, decreased brain growth (acquired microcephaly), loss of coordination, gait abnormalities, developmental regression, autistic-like behaviors, seizures, and intellectual disability.
Rett syndrome, caused by a MECP2 gene mutation, is an X-linked neurodevelopmental disorder
102
Newborn presents with pre-auricular ear pit and otherwise normal exam. Is there any other imaging or workup we need to do?
It is not necessary to perform ultrasonography to screen for renal anomalies in newborns with isolated preauricular skin tags or pits and no other congenital anomalies or risk factors.
IF there are any other anomalies then obtain one
103
Newborns with isolated preauricular skin tags or pits have a____ higher risk of permanent hearing loss, compared to the general population.
5-fold
104
When should a newborn with pre-auricular ear pit get a renal US?
In newborns with external ear anomalies who have other congenital anomalies or dysmorphic features, a family history of deafness, ear, or renal anomalies, or a maternal history of gestational diabetes, the likelihood of clinically significant structural renal anomalies is higher, and renal ultrasonography is warranted.
105
Cause of rash and headache in RMSF?
The principal histopathologic feature of infection with R rickettsii is endothelial injury and vascular permeability. The petechial rash results from focal vasculitis in the epidermis. Vascular fluid leakage into organ tissue can lead to characteristic symptoms, such as headache caused by increased intracranial pressure.
106
Pt presents with HA/Fever, rash on hands after recent visit to family in North Carolina two weeks ago. What lab abnormalities would you expect on CBC, RFP and LFTs?
Rocky Mountain spotted fever:
Laboratory aberrations, including thrombocytopenia, hyponatremia, and elevated levels of hepatic transaminases, occur in over half of the cases of RMSF and result from endothelial injury and capillary leak.
107
8yoM presents with headache, fever and rash on hands after travel to South Carolina, spent week camping with family. What organism is responsible, what do you use to treat?
RMSF
Rickettsia rickettsii and is a tick-borne infection
Tx doxycycline
Lymphadenopathy, hepatosplenomegaly, peripheral edema, and meningismus can occur with relative frequency
108
The features of ______include a high arch, adducted position of the forefoot, hindfoot varus, and plantar flexion contracture.
talipes equinovarus (TEV/Club foot)
109
What is the treatment for talipes equinovarus (TEV/Club foot)
The ‘gold standard’ technique for the treatment of talipes equinovarus is the Ponseti method which includes serial casting, surgery to cut the Achilles tendon, and bracing.
110
What is the difference between Metatarsus adductus and talipes equinovarus (club foot)?
Metatarsus adductus, a flexible, adducted positioning of the forefoot, is a common foot deformity that results from intrauterine positioning. Children with metatarsus adductus have a curved appearance of the lateral edge of the foot. This diagnosis can be distinguished from TEV on physical examination; infants with metatarsus adductus have normal ankle motion, while those with TEV are fixed in a plantar flexed position.
111
The classic electrolyte and acid-base imbalance associated with infantile hypertrophic pyloric stenosis is
hypochloremic, hypokalemic metabolic alkalosis.
112
Epidemiology of pyloric stenosis:
| gender, race and onset of disease
The incidence of pyloric stenosis is 1 to 3 per 1,000 live births. Boys are affected 4 times more frequently than girls. The incidence is higher in white infants.
age at onset 2 to 8 weeks
113
Mutations in SMAD4, BMPR1A, and ENG are associated with ____
JPS. Juveinile polyposis syndrome
114
Pts diagnosed with JPS have an increased risk of which types of cancer?
How frequently should they be screened?
Patients with JPS have an increased risk of colorectal and gastric cancer, and surveillance with endoscopy and colonoscopy is recommended annually if polyps are present and every 3 years if no polyps are found.
115
Familial adenomatous polyposis (FAP) syndrome, which is caused by ___ mutations and characterized by numerous adenomatous polyps and significant risk for colorectal cancer
ACP
116
Children with ____ or more juvenile polyps or any number of adenomatous intestinal polyps should be referred for genetic testing.
5
117
While a fingerstick lead level is an acceptable first step for screening, a confirmatory venous BLL must be obtained for fingerstick levels of_____or greater because of the increased hand-to-mouth behaviors of young children and possible contamination of exposed skin.
5 µg/dL (0.2 µmol/L)
118
Manifestations of lead toxicity include
abdominal pain, constipation, growth failure, hearing loss, behavioral problems, cognitive impairment, seizures, encephalopathy, renal disease, microcytic anemia, dental caries, and spontaneous abortions.
119
For children with BLLs of 5 µg/dL (0.2 µmol/L) or greater, the first step is
confirmatory testing with a venous sample. Local or state health departments should subsequently be notified to inspect the child’s home to detect and remedy any source of lead exposure.
120
Pt comes in for routine care. Lead level detected around 10 (venous sample)
What other screening should be done?
When do you retest?
Screening children for iron deficiency and initiating ferrous sulfate is also recommended. For BLLs of 5 to 15 µg/dL (0.2-0.7 µmol/L), retesting should occur within 1 to 3 months to ensure the level is not rising. If the BLL is stable or decreasing, the patient should be retested every 3 months with a venous BLL.
121
How do you differentiate between lead toxicty and Iron deficiency anemia since both have microcytic anemia?
Lead: BASOPHILIC stippling or RBCS
Fe levels would be NORMAL and TIBCS shold be low/normal
(plus constipation, behavior changes, neurologic issues, lead lines on long bones)
122
When is chelation with EDTA, dimercaperol or d-penicillamine indicated for lead poisoning?
Levels >45
123
When to start PTx on HIGH risk babies
___ @ 24 hours
____@ 48 hours
____@72 hours
```
8
11
13
For Medium risk ADD 2
For low risk ADD 4
***only infants >/= 35 weeks!
```
124
Pathophysiology of Rhesus or RH disease:
mom's are Rh-, usually in 2nd pregnancy.
Ig___antiB are made during first pregnancy and are too large to cross over to fetal circulation
2nd pregnancy, Ig___ present and do cross over
IgM are MASSIVE (too big to cross)
IgG will Go across placenta in 2nd trimester
RH- moms need Rhogam at 20wks and again after birth if baby is Rh+
125
Name of test to see if fetal blood cells are present in maternal blood
Kleihauer Betke
126
are benign tumors that characteristically present in adolescent boys and cause symptoms including nasal obstruction, mucopurulent nasal discharge, and severe epistaxis.
Juvenile nasopharyngeal angiofibromas
127
refers to desiccation of the nasal mucosa, which can arise in dry, cold winter climates or in children who depend on respiratory support systems that expose the nares to dry air (such as nasal cannula or nasal bilevel positive airway pressure)
rhinitis sicca
128
Lupus nephritis has ____ levels of C3, C4 and CH50
LOW
129
ANA antibodies, Anti-DNA and anti-Smith are all present in what disease
```
SLE
ANA most sensitive, not specific
Anti-DNA next most sensitive
anti-Smith are most Specific
will have +RPR
```
130
Neonatal lupus is due to fetal exposure to WHAT?
How do we diagnose it?
What is the associated cardiac finding?
Is this a lifelong disease?
maternal SLE-related antibodies
Dx by sending anti-Ro or anti-La (Anti-SS-A or SS-B) antibodies
Third degree AV heart block w/ bradycardia
This is REVERSABLE
131
Children who consume only vegetarian or vegan diets are at risk for _____ deficiency because it is found only in animal-based food products.
cobalamin (vitamin B12)
132
Varicella skin lesions can serve as a portal of entry for
group A streptococcal infection.
133
shiny, wrinkled, ivory-colored atrophic patches located in a figure-of-8 or hourglass distribution surrounding the vulva, perineum, and anus. Blisters may occur.
lichen sclerosus lesions
134
Common physical features include ptosis, epicanthal folds, low-set prominent ears, neck webbing, low posterior hairline, shortened fourth metacarpals, broad chest with widely spaced nipples, and multiple nevi.
Turner
135
What are the cardiac anomalies seen with Turner syndrome?
Bicuspid aortic valve, coarctation of the aorta, partial anomalous pulmonary venous return, and aortic root dilatation are associated cardiac anomalies.
136
What are the common hormone anomalies seen with Turner syndrome?
Primary ovarian failure is common and manifests as delayed puberty or abnormal pubertal progression.Gonadotropins (luteinizing hormone and follicle-stimulating hormone) are elevated around the age of typical pubertal onset.
137
Girls affected with Turner syndrome are at higher risk for what diseases?
increased risk for developing autoimmune thyroid disease and celiac disease.
138
Tay-Sachs disease is an autosomal___ metabolic disorder caused by _____deficiency, which presents as a neurodegenerative disorder.
recessive
hexosaminidase A
NO organomegaly in Tay-Sachs
139
Normal infant--> progressive loss of motor skills, increased weakness, decreased alertness, and increased startle response between 3 and 6 months of age.
Macrocephaly, cherry red spot and HYPERreflexia
Tay Sachs
Hex A deficiency
Auto Recessive
140
A _____ can also be seen in infantile Gaucher disease (GD), GM1 gangliosidosis, galactosialidosis, Niemann-Pick disease type A, and Sandhoff disease.
cherry-red spot
141
Child presents with coarsening of the facies, progressive skeletal dysplasia, macroglossia, and corneal clouding, in addition to neurodegenerative progression and hepatomegaly
mucopolysaccharidosis type 1, also known as Hurler syndrome
142
Pt presents with enlarged liver and spleen, osteopenia, focal lytic or sclerotic lesions of the bone, lung disease, and anemia with thrombocytopenia as well as cherry red spot on retina
Gaucher disease
143
presents with infantile-onset malabsorption because of the storage of cholesterol esters and triglycerides in hepatic macrophages that leads to hepatomegaly, liver disease, and adrenal gland calcification/adrenal cortical insufficiency. Infants typically do not live past age 1 year.
Wolman disease, also known as lysosomal acid lipase deficiency
144
Universal precautions are routine practices, including hand hygiene and use of personal protective equipment in prescribed scenarios, that should be followed by all health care workers in all clinical settings.
Which scenarios?
All scenarios; should use standard precautions in all health care situations
