Falcon Review Pediatrics 1 Flashcards
1
Q
Why is breast feeding best
A
Immunologic factors such as IgA, Lactoglobulin, maternal macrophages
Decreased incidence of allergic disease, URI and otitis media
more rapid maternal return to pre pregnancy weight
2
Q
What supplementation is needed for breast feeding babies
A
Vitamin D by 2 months
Fluoride after 6 months (h20 dependent)
3
Q
What disease contraindicate breast feeding
A
- Active TB
- Syphilis
- HIV
- Varicella
- Galactosemia
- HSV breast lesion
4
Q
What are common medications that are contraindicated for breast feeding
A
- Antineoplastics
- Lithium
- Chloramphenicol
- Cyclosporine
5
Q
Is mastitis a contraindication for breast feeding
A
NO
Actually part of the treatment
6
Q
What are the language developmental milestones
A
2 months: social smile 4 months: laughs, coos 6 months: babbles 9 months: mama/dada, stranger anxiety 12 months: one word, specific mama/dada 15 months: one step command 18 months: 2 word phrases 24 months: 10 - 20 words, 2 step command
7
Q
What are the key gross motor developmental mile stones
A
6 months: sits
18 months: crawls up stairs
8
Q
what are the key fine motor developmental mile stones
A
9 months: pincer grasp
15 months: 2 block tower
9
Q
What age should a child be able to draw a circle, square triangle
A
circle: 3
square: 4
triangle: 5
10
Q
How much of a child should be understood at ages 2, 3, and 4
A
2 yo: 50% (2/4)
3 yo: 75% (3/4)
4 yo: 100% (4/4)
11
Q
Is gynecomastia common in prepubertial boys
A
yes. Up to 50% of prepuberty boys
12
Q
How long after initiation of menses will girls experience anovulatory periods
A
12-24 months
13
Q
What is the first sign of puberty in males and females
A
Males: testicular enlargement
Females: thelarche
14
Q
What is the average age of onset for puberty for boys and girls
A
Boys: 9-14
Girls: 8-13
15
Q
What is the most common cause of death in infants
A
SIDS
Sudden infant Death Syndrome
16
Q
What are risk factors associated with SIDS
A
Prematurity no prenatal care maternal smoking lower socioeconomic conditions prone/side sleeping Family history
17
Q
What is the best technique to reduce the risk of SIDS
A
back to sleep
18
Q
At what temperature is fever defined
A
38C
100.4 F
19
Q
What are the 2 most important details for sick kids
A
Age of the child
Height of the fever
20
Q
What is the approach for children less than 3 months of age with fever
A
Less than 1 month: hospital admission and R/O Sepsis workup
Less than 2 months: R/O sepsis w/u to include CBC, Blood Cx, Ua, Ur Cx, CSFa, CSFcx
Ages 2-3 months: depends on the clinical picture for CSFa and CSFcx
21
Q
What are the most common causes of fever in infants less than 3 months
A
Group B strep
E. Coli
Listeria
22
Q
What are the most common causes of fever in infants over 3 months of age
A
Strep pneumoniae
N. Meningitides
H. Influenza
Salmonella
23
Q
How should a child less than 1 month with a fever be treated
A
Admitted, worked up and treated empirically with
- Ampicillin for Listeria
- Cefotaximine for GBS & E. Coli
24
Q
What ages should a UTI be considered for children with a fever of unknown source
A
circumcised males: less than 6 months
uncircumcised males: less than 12 months
Females: less than 24 months
25
Can you give ceftriaxone to infants less than 1 month of age
No.
thought to displace bilirubin at binding site and induce neonatal jaundice.
Can use after one month old.
Less than one month use cefotaximine
26
What is blepharitis
Inflammation of the lid margins.
Often Chronic
Not painful
27
What is a hordeolum
a Stye
Infection of the ciliary follicle
Painful and swollen
28
What is a chalazion
blocked meibomian gland
Classically not painful
May require surgical resection
29
What are the most common causes of conjunctivitis
Dacrostenosis
Chemical
Infection
Allergic
30
What is dacrostenosis
Congenital lacrimal duct obstruction
May resolve in the first 24 hours. If not, can refer to optho for probe opening
31
When is a CT indicated in a patient with periorbital / orbital cellulitis
1. Decreased EOM
2. Proptosysis
3. Decreased visual acuity.
32
What is the most common cause of a Viral URI
Rhinovirus (#1)
parainfluenza, RSV, coronavirus
33
What are the signs and symptoms of a viral URI
fever, nasal congestion / inflamed mucosa, rhinorrhea, sneezing, pharyngitis, malasise (5-7) days.
34
What sinuses are infants born with
Ethmoid and maxillary
35
What are the causes of sinusitis
Strep Pneumoniae (#1)
H. Influenza
S. Aureus (most common cause of chronic)
M. Catarallis
Anaerobes
36
If the turbinates are pale and boggy, what should be top of the differential
Allergic rhinitis
37
What is the first line treatment for otitis media
Amoxicillin (# 1)
38
What is considered a treatment failure for otitis media
otalgia or gever persisting after 72 hours of treatment
39
What is a cholesteatoma
Epithelial outgrowth in tympanic membrane; may destroy temporal bone structures
40
Do bacteria prefer an acidic or basic environment to grow
Basic
41
How sensitive is a strep rapid antigen test
90%
42
What causes strep pharyngitis
GABHS
Streptococcus pyogenes
43
What is the main reason to treat against GABHS
Prevent rheumatic fever.
There is no prevention against glomerular nephritis
44
What should be the first thought for a patient with a "sand paper rash"
Scarlet fever
45
What are the primary causes of meningitis for infants less than 3 months
GBS
L. Monocytogenes
E. Coli
46
What are the primary causes of meningitis for infants over 3 months
S. Pneumoniae
N. Meningitides
H. Influenza
47
What are the most common causes of meningitis in asplenic patients
Strep Pneumoniae
| Salmonella
48
What are the three major types of meningitis
Pyogenic (bacterial)
Aseptic (Viral)
Granulomatous (TB)
49
How do you differentiate the major types of meningitis
Pyogenic: Increased cells with low glucose, positive gram stain
Aseptic: normal glucose, negative gram stain
Granulomatous: Low glucose, negative gram stain
HSV: significant amount of RBC's
50
What are the most common causes of encephalitis
1. Enterovirus (most common)
2. Arboviral
a. St. Louis
b. Western Equine
c. Eastern Equine
d. Colorado tick fever
3. HSV (associated with focal seizures)
51
What is the most common organism for osteomyelitis
Staph Aureus
52
What is the most common cause of osteomyelitis in neonates
GBS, gram negative enteric bacilli
53
What is the most common cause of osteomyelitis in sickle cell
Staph Aureus
| Salmonella
54
What is the most common cause of osteomyelitis in dog/cat bites
Pasteurella multocida
55
What is the most common cause of osteomyelitis in puncture wound of the foot
Psuedomonas aeruginosa
56
What modalities are useful in detecting osteomyelitis
MRI 2-3 days
| Xray 10-14 days
57
How do you guide antibiotic therapy for osteomyelitis
abx for 4-6 weeks while monitoring ESR. Continue tx until ESR has normalized
58
What should be suspected if the patient has painful joints and prefers the "frog leg" position
Septic arthritis
59
What bacteria is associated with cat scratch fever
Bartonella hensalae
60
What are the signs and symptoms of cat scratch fever
Tender nodes enlarged up to 2 months.
61
What stain is required to show show a tissue sample with bartonella hensalae
Warthin-Starry Stain
62
What is the treatment for bartonella hensalae
None. Usually resolves spontaneously
63
What is parinaud occuloglandular syndrome
Unilateral conjunctivitis, preauricular lymphadenopthy associated with running eyes after cat contact
64
If a patient is speaking and has a difficult time opening his mouth completely and sounds as if he is only whispering, what should you suspect
Peritonsilar abscess
65
What kind of virus is influenza
RNA
66
What is used for treatment of influenza
Amantadine/ rimantadine for sever cases (ineffective again B)
Oseltamivir: effective against both types
67
What is the most common cause of a secondary bacterial infection with the flu
staph aureus
68
What are the signs and symptoms of adenovirus
```
Fever
pharyngitis
conjuctivitis
rhinitis
diarrhea
hemorrhagic cystitis
```
69
What kind of virus is adenovirus
DNA
70
What are the differential for lesions on palms and soles
Coxsackie
Syphyllis
Rocky Mountain Spotted fever
Scabies in infants
71
What causes hand foot and mouth disease
Coxsackie A16
72
When is hand foot and mouth prevalent
summer-fall
73
What causes 5th's disease
Parvovirus B19
74
What is another name for 5ths disease
Erythema Infectiosum
75
What are the signs and symptoms of 5ths disease
low grade fever, phryngitis, slapped cheek rash followed by lacy appearing rash over the trunk and proximal extremities
76
What are the complications of parvovirus B19
```
Reticulytopenia (temporary cessation of red cell generation)
Aplastic anemia (sickle cell)
```
Pregnancy infxn can induce hydrops fetalis
77
What is rubeola
Measles
78
What causes rubeola
Measles virus (RNA paramyxovirus)
79
What is the prodrome of rubeola
3 C's
Cough
Coryza
conjunctivitis
Followed by high fever and maculopapular rash that starts at the head and spreads down
80
What is Roseola
Exanthem subitum
81
What causes roseola
HHV 6
82
What are the signs and symptoms of roseola
children < 5 yo
high fever followed by diffuse rose colored maculopapular rash (starts as papules on the trunk)
occipital lymphadenopathy
febrile seizures
83
What is rubella
german measles
84
What is the incubation of rubella
14-21 days
85
What are the signs and symptoms of rubella
Lymphadenopathy, maculopapular rash starting on the face and spreading down
Forccheimer spots
86
What are forrcheimer spots
rose spots on the soft palate
87
What happens with a rubella infxn during pregnancy
Congenital rubella syndrome (hearing loss, cataracts, HSM, blueberry muffin rash)
88
What causes Mononucleosis
EBV
89
What are signs and symptoms of mono
```
pharyngitis
generalized lymphadenopathy
splenomegally
hepatomegaly
urticarial or maculopapular rash (associated with ampicillin/amoxicillin)
```
90
What causes whooping cough
Bordetella pertussis
91
What are the stages of whooping cough
Catarrhal Stage:
Paroxysmal stage
Convalescent stage
92
Define the catarrhal stage of whooping cough
1-2 weeks in duration
rhinorrhea
conjunctival injection
cough
93
Define the paroxysmal stage of whooping cough
2-4 weeks in duration
coughing spasms
inspiratory whoop
facial petechiae
94
Define the convalescent stage of whooping cough
Decreasing frequency of symptoms
95
What pathogen is associated with croup
Parainfluenza virus
96
What is a stridor
high-pitched wheezing sound resulting from turbulent air flow in the upper airway. Stridor is a physical sign which is produced by narrowed or obstructed airway path. It can be inspiratory, expiratory or biphasic. Inspiratory stridor is common.
97
How is the severity of croup scored
Westley criteria
98
What is the treatment for whooping cough
Erythromycin.
Does not shorten disease, but limits disease evolution and communicability
99
What is the significance of HBsAg
measure of active disease
Can indicate a persistent carrier state
100
What is the significance of HBcAg
Shows exposure to disease
used to differentiate previous infection that has resolved from a vaccine
101
What is the significance of HBeAg
Derived from HBcAg by proteolytic self cleavage; marker of active viral replication
Indication of highly infective state
102
What causes lyme disease
Borrelia burgdorferi
103
How is lyme disease transmitted
deer tick, endemic in New England
104
What are the stages of lyme disease
Stage 1: Localized erythema migraines 3-32 days after tick bite
Stage 2: Neurologic (Aseptic Meningitis, Bells Palsy) and Cardiac (myocarditis, heart block) 3-10 weeks after tick bite
Stage 3: Arthritis, peripheral neuropathy, encephalopathy 2-10 months after tick bite
105
What is the treatment for lyme disease
Stage I: Doxycycline (if patient is less than 8, use amoxicillin)
Stage II/III: IV Ceftriaxone or penicillin for 14-28 days
106
What causes Rocky mountain spotted fever
Rickettsia Rickettsii
107
How is rocky mountain spotted fever transmitted
tick vector in the east coast and western states
108
What are the signs and symptoms of RMSF (rocky mountain spotted fever)
Heachache
fever
blanching maculopapular rash which begins peripherally (including palms and soles) and spreads centrally; Rash eventually becomes petechial
109
what is the treatment for RMSF
Doxycycline for any age; delay can be fatal
110
What is the treatment for scabies
permethrin cream
111
What is the treatment for lice
permetherin cream
112
How can you tell the difference between milk curd and oral candida
milk curd will easily wipe off
113
What causes hook worms
Ancylostoma duodenale
114
What is the life cycle of hook worms (ancylostoma duodenal)
stool (eggs)
skin penetration
migrates to lungs via lymphatics
swallowed and attaches to intestinal mucosa
115
How are hook worms diagnosed
direct fecal examination for eggs
116
What is a complication of hook worms
Iron deficient anemia that can lead to protein malnutrition
117
What is the treatment for hook worms
mebendazole
| Albendazole
118
What causes pinworms
Enterobius vermicularis
119
What are the signs and symptoms associated with pin worms
nocturnal anal or vaginal pruritis
120
What is the treatment for pin worms
mebendazole
| albendazole
121
What is the problem with ascariasis lumbricoides
```
Colicky andominal pain
emesis
cough
hemoptysis
may cause intestinal obstruction
```
122
What is the treatment for ascariasis
mebedazole
| albendazole
123
What is the life cycle of ascariasis
eggs ingested
larvae penetrate the intestinal wall
larvae migrate to lungs via the venous circulation
larvae enter alveolar spaces
larvae travel up broncial tree and are swallowed
adult worms fired (10-30 cm)
124
What causes histoplasmosis
histoplasma capsulatum found in soil contaminated by bird droppings
Common in Mississippi, Missouri, ohio river valleys
125
What is the treatment for histoplasmosis
Amphotericin B for a symptomatic presentation.
126
What is the most common childhood cancer
Acute Lymphoblastic leukemia
127
What are the signs and symptoms of ALL
```
Fatigue
bone pain
fever
pallor
bleeding
headache
HSM
lympadenopathy
weight loss
gait disturbance
```
128
What is used to diagnose ALL
CBC
- typically pancytopenia, though WBC can be elevated if leukemic cells are in circulation
Manual Diff
- Lymphoblast on smear
129
What is the treatment for ALL
Remission induction - chemotherapy
130
What is a complication of chemotherapy
Tumor lysis syndrome
131
What is tumor lysis syndrome and how do you treat it
Syndrome of:
hyperuricemia
hyperkalemia
hyperphosphatemia
Treat with allopurinol, hydration, alkanalize the urine and monitory the heart
132
What is the typical age of onset for ALL
3-4 yo
133
What is the typical age of onset for Hodgkin disease
older children and adolescents
134
What are the risk factors associated with hodgkins disease
immunodeficiency
| EBV
135
What are the signs and symptoms of hodgkins disease
localized adenopathy (cervical and supraclavicular 90%)
Fever
Sweats
weight loss (>10%)
136
What is the key diagnostic feature for hodgkins disease
Reed-Sternberg Cell
137
What are the types of hodgkins lymphoma
Nodular sclerosis
Mixed cellularity
Lymphocyte-rich
Lymphocyte depleted or not depleted
138
What is the primary age associated with non-hodgkin lymphoma
Most common in children 7-11 years
139
What are the signs and symptoms of non-hodgkin lymphoma
Abdominal mass
neck mass
Jaw mass or mass at other site
30% will present with RLQ pain. Always consider NHL for kiddo's with RLQ pain
140
What appearance on biopsy will burkitts lymphoma show
starry sky appearance
141
What is the treatment of non-hodgkin lymphoma
1. Surgical debulking
2. Chemotherapy
3. Consider radiotherapy for head and neck
142
What are the major classifcations for brain tumors in children
1. Infatentorial (60%)
- 2 to 12 years old
2. Supratentoria (15%)
- < 2 and > 12
3. Midline (15%)
143
If a child experiences early morning wakenings with HA what should be suspected
intracranial mass
144
What is the most common brain tumor of childhood
Astrocytoma
Most common for both Supratentorial and infratentorial
145
Where does a medulloblastoma originate
90% originate from the cerebellar vermis
roof of the 4th ventricle
146
What age is generally effected by medulloblastoma
2-10
147
Where does a brainstem glioma generally effect
a glial cell tumor that infiltrates the pons and extend through the brainstem
148
What are the two types of Brain Stem Gliomas
1. Anaplastic: poor prognosis
| 2. Lowgrade focal: good prognosis
149
Discuss the frequency of craniophrayngioma
Most common supra-tentorial tumor after astrocytoma
150
What are the signs and symptoms of a craniopharyngioma
Endrocrine syndromes
- growth failure/hypothyroidism
- diabetes insipidus
- Adrenal insufficiency
Peripheral Vision loss (optic chiasm)
Hydrocephalus
151
What is used to diagnose craniopharyngioma
MRI is definitive
152
What is parinauds syndrome
NOT TO BE CONFUSED WITH "PARINAUDS OCULOGLANDULAR SYNDROME"
AKA "Dorsal Midbrain Lesion"
Paralysis of upward gaze and a poor pupillary response to light. Caused by tumor pressure on the vertical gaze center to midbrain
153
What is an optic glioma
low grade astrocytoma causing decreased visual acuity and pallor of the disks
154
What age is typically effected by a Wilms tumor
age > 3
155
What is the most common renal neoplasm in childhood
Wilms Tumor
156
What are the signs and symptoms of wilms tumor
Asymptomatic abdominal /flank mass over the age of 3.
may have abdominal pain, vomitting, hypertension
157
What is a neuroblastoma
Malignancy of the neural crest cells. 70% arise in abdomen with the adrenal as the primary site
158
What age is typically effected with neuroblastoma
Less than 3
159
What are the signs and symptoms of a neuroblastoma
Abdominal mass, kidneys typically NOT palpable (inferolaterally displaced by lesion), hypertension
Opsoclonus-myoclonus (dancing eyes-dancing feet)
Periorbital ecchymosis (raccoon eyes)
160
How is a neuroblastoma diagnosed
VMA and HVA levels in urine
CT
Tumor biopsy
161
What is leukocoria
absent red reflex
162
What is the most common cause of leukocoria
congenital cataracts
163
What is the most serious cause of leukocoria
retinoblastoma
164
What is a vaccine
attenuated live or killed microorganisms given to induce immunity
165
What is a toxoid
modified bacterial toxin, now nontoxic, stimulated formation of antitoxins
166
What is active immunity
production of antibody
167
What is passive immunity
Preformed antibodies are given
168
What is herd immunity
When enough persons are immunized to prevent transmission of disease to unimmunized persons
i.e. Measles and Rubella
169
What are the live vaccines
MMR
Varicella
OPV (oral polio virus) not used in US
170
What vaccines are grown in egg media
MMR
| Influenza
171
Is an egg allergy a contraindication to vaccines
NOT to MMR
NOT to influenza unless history of anaphylaxis or severe allergy
172
What vaccines contain neomycin
OPV
Varicella
MMR
173
What vaccines contain streptomycin
IPV
| OPV
174
Which vaccines are thimerosal free
All of them
175
What is the rule for catching up a child who has missed previously scheduled vaccines
Give as many as possible
Do not start over
Do not give two serial shots at one time
176
How does vaccination in immuncompromised patients change
only be concerned with live vaccines
No OPV
Consider Varicella
Give MMR to mild and moderate immunocompromised, but hold in Severe
177
What complications are associated with DTaP
Inconsolable crying, high pitched crying
Fever > 105
Rarely seizures
178
When is DTaP contraindicated
Encephalopathy or seizures within 7 days of prior pertussis does not attributable to another cause
Anaphylaxis
unstable encepholapathy
Hold the pertussis; Still give the DT
179
When is MMR contraindicated or when should it have a delayed administration
Contraindicated with severe immunodeficiency or prior anaphylaxis
Delayed for pregnancy and if pt has received IVIg in prior 3 months
180
What is the contraindication to HiB vaccine
anaphylaxis
181
What pneumococcus vaccine is recommended to all infants
13 valent conjugate
182
What children should receive the 23-valent polysaccharide vaccine
children > 2 with sickle cell anemia, functional or anatomic asplenia
183
What is the contraindication to the pneumococcus vaccine
anaphylaxis
184
When is influenza vaccine contraindicated
Age less than 6 months
185
Who should receive the meningococcal vaccine
Asplenic patients over the age of 2
| complement deficient patients
186
What are the contraindications to meningococcal vaccine
anaphylaxis
| Conjugate - previous guillan-barre
187
What are the contraindications to varicella vaccine
Pregnancy
Anaphylaxis
Use caution with patients on salicylates: may induce reyes syndrome
188
What is reyes syndrome
Syndrome induced by salicylates with a virus:
Liver failure
Encepholapathy
189
What is the incubation period for varicella
10-21 days
190
When is post exposure prophylaxis indicated for varicella
immunocompromised patients
| new borns born to mothers exposed 5 days prior to delivery and 2 days after delivery
191
What is included in the allergic triad
1. Allergic rhinitis
2. Reactive airway disease / asthma
3. Atopic dermatitis
192
What is atopy
inherited tendency to have a persistent IgE response to allergens
193
What causes allergic rhinitis
antigen stimulates IgE production which triggers histamine release from mast cells;
may be seasonal or perennial
194
What are the signs and symptoms of allergic rhinitis
Sneezing, watery/mucoid rhinorrhea, nasal obstruction, itching
boggy edematous pale nasal mucosa
Nasal "salute" or allergic "shiners"
195
What is the treatment for allergic rhinitis
The key is allergen avoidance
Antihistamines, decongestants, consider nasal corticosteroids
196
What are the signs and symptoms of urticaria
Hives
Erythematous rasied pruritic lesions (Wheel and flare)
may be localized or generalized
IgE mediated response
197
What are some common causes for urticaria
```
Food
Drugs
Viruses
bacteria
malignancy
```
198
What is chronic urticaria
Urticaria lasting longer than 6 weeks. Etiology often difficult to identify
Typically can only treat symptomatically
199
What are the signs and symptoms of Atopic Dermatitis (eczema)
Erythematous pruritic rash with crusting and scaling
200
What is the treatment for eczema
Primarily supportive with emollents and moisturizers
Decreased bathing
Antihistamines at night (even though it is not a histamine mediated reaction)
Topical corticosteroids
201
What are some complications associated with eczema
Superinfections with Bacterial (staph or strep) as impetigo is most common or viral (herpetic)
202
What are the 4 major types of immunodeficiency
B Cell
T Cell
Phagocyte
Complement
203
What are the clinical characteristics of humoral deficiency
Frequent recurrent pyogenic infections with extracellular encapsulated organism
Frequent bacterial otitis, sinusitis, pneumonia = sinopulmonary
204
What are the most common encapsulated pathogens
HiB
N. Meningitides
Strep pneumoniae
205
When will X-linked (Bruton) Agamaglobulinemia typically present
after 6-12 months when the maternal antibodies fall
206
What are the signs and symptoms of X-linked (Bruton) Agamaglobulinemia
pneumonia, otitis media, sinusitis caused by Strep Pnuemo or H. influenza
Hypoplasia of tonsils and adenoids (no B cells)
207
What is the treatment for X-linked (Bruton) Agamaglobulinemia
prophylactic antibiotics and monthly IVIg
208
What is the most common humoral AB deficiency
IgA defficiency
209
What are the risk factors for IgA deficiency
Highly associated with SLE, RA, cancer, and celiac's disease
210
What are the signs and symptoms of IgA deficiency
Recurrent respiratory tract and urinary tract infections, chronic diarrhea
211
What are complications that are associated with IgA deficiency
Anaphylaxis after blood transfusion due to development of anti-IgA AB
212
Discuss IgG subclass deficiency
The type of deficiency will determine the type of frequent infections experienced
Most pts with IgG2 def will have IgA deficiency
213
What are the signs and symptoms of an IgG subclass def
sinopulmonary infections, normal growth
typically only mild infections
214
What are the clinical characteristics of disorders of T Cell mediated immunity
Frequent recurrent infections with opportunistic or low grade infection such as candida, mycobacteria, protozoa and viruses
Increased incidence of autoimmune disorders and malignancy
Anergy
215
What is anergy
lack of an immune response to a specific antigen. Tested by a skin prick test
216
What is DiGeorge syndrome
Hypoplasia/aplasia of thymus and parathyroid glands resulting from defect in development of the 3rd and 4th pharyngeal pouches
217
What are the signs and symptoms of DiGeorges syndrome
Hypocalcemic seizures (typically in the neonate)
Recurrent or opportunistic infections
Congenital heart disease (pulmonary outflow tract and tetralogy of fallot)
Craniofacial abnormalities (hypertelorism, esophogeal atresia, bifid uvula and micrognathia)
218
How is DiGeorge syndrome diagnosed
FISH
Microdeletion of chromosome 22q11.2
219
What are the types of SCID
1. X-linked: IL-2 receptor y-chain defect
| 2. Autosomal recessive: Adenosine deaminase deficiency
220
What are the signs and symptoms of SCID
serious/recurrent infections by 3-6 months of age
Often first indication of SCID is Pneumocystis carinii infection
221
What is the treatment of SCID
bone marrow transplant
222
What is Wiskott Aldrich Syndrome
X-linked disorder of lymphocyte and megakaryocyte lineage
Triad of
1. eczema
2. thrombocytopenia (small platelets with short half life)
3. Recurrent infections with encapsulated bacteria
223
What is the treatment for wiskott aldrich syndrome
bone marrow transplant
224
What are the signs and symptoms of Ataxia telangectasia
Autosomal recessive
Ataxia
telangectasia of eyes and skin
Chronic sinopulmonary disease
Endocrine abnormalities
children are often wheel chair bound by age 12
225
What is chronic granulomatous disease
X-linked disorder of neutrophils
Unable to kill pathogens with respiratory burst. Dysfunction in NADPH oxidase enzyme complex
226
What are the signs and symptoms of CGD
```
failure to thrive, Chronic Diarrhea, persistent candidiasis
Skin and soft tissue infections
Lymphadenopathy and HSM
CBC with anemia of Chronic disease
Hypergammaglobinemia
```
227
How is CGD diagnosed
Inability of affected cells to reduce nitroblue tetrazolium
228
When does the umbilical cord typically separate
7-10 days after birth
229
What is LAD
leukocyte adhesion defect
Defect in selectins and integrins: a disorder of glycosylation
Result is an increase in circulating leukocytes, but a decrease in function
Gammaglobulin is increased in response to infections, but overall effectiveness is impaired
230
What are the signs and symptoms associated with LAD
```
Delayed separation of umbilical cord
Necrotic periodontal infections
Leukocytosis
Neutrophilia, but no neutrophils in pus
Normal oxidative burst
```
231
What are the clinical characteristics of complement deficiencies
recurrent bacterial infections with pyogenic extracellular, encapsulated organisms often involving the skin and respiratory tract
Increased susceptibility to recurrent meningococcal disease and disseminated N. gonorrhea
Increased incidence of autoimmune disease.
232
When does physiologic anemia occur in infants
3-6 months for full term infants
| 6-10 weeks for preterm infants
233
What age group of children are at risk for iron deficient anemia
6-24 months
234
What are the risk factors for iron deficient anemia
Premature (inadequate iron stores)
Inadequate iron intake
Occult GI bleed (allergy, meckels)
Hookworms
235
What are the signs and symptoms of iron deficient anemia
pallor
fatigue
tachycardia
systolic murmur; may progress to high output HF
236
What will the labs show for an iron deficient anemia
CBC: hypochromic, microcytic anemia
Decreased: serum iron, reticulocyte count, ferritin, MCV and hemoglobin
Increased: TIBC, free erythrocyte protoporphyrin level, RDW
237
What is the post conceptual age
Gestational age + chronological age
238
What will the labs show for hemolytic anemia
Decreased: hemoglobin, haptoglobin
Increased: reticulocyte count, indirect bilirubin from increased hemolysis
239
What are the risk factors for hemolytic anemia
Extrensic: DIC, Autoimmune hemolysis
Intrinsic: G6PD, Sickle cell, hereditary spherocytosis
240
What defect is associated with hereditary spherocytosis
RBC skeletal protein causing shape to be altered: SPECTRIN
241
What are the signs and symptoms associated with hereditary spherocytosis
Anemia, splenomegally, jaundice
Erythropoesis rate usually exceeds hemolysis rate
242
What will the MCV and MCHC be for hereditary spherocytosis
Normal or low MCV
Increased MCHC
243
What is the osmotic fragility test
ability of a RBC to take up water.
With a decreased surface area per unit volume, it will have a decreased ability to take up water
This test is abnormal with hereditary spherocytosis
244
What is the treatment for hereditary spherocytosis
Consider splenectomy
245
What is the consequence of a splenectomy
increased risk of sepsis, especially to encapsulated organism.
246
What is G6PD deficiency
Normally glucose is metabolized through the hexose-monophosphate shunt to reduce glutathione and protect the red cell from oxidant stress.
X-linked
247
What is the treatment for G6PD
avoidance of triggers: sulfa drugs, fava beans, antimalarials, high dose aspirin
248
What is the defect with sickle cell disease
substitution of valine for glutamine at the 6th position of the B chain
249
What are the signs and symptoms associated with sickle cell
generally assymptomatic until 6 months of age when maternal hemoglobin is lost.
6 months - 5 years: spleen autoinfarcts, and will have an increase infection from encapsulated organisms
Splenic sequestration: acute splenic engorgement, can lead to shock/death
vasoocclusive pain crisis
Gall stones from increased hemolysis of blood
250
When is sickle typically diagnosed
newborn. Part of the screening
251
What is the treatment for sickle cell
proper vaccines and immunizations
penicillin prophylaxis
Agressive manage of fever (Abx) and Pain (hydration)
Transfusions
Hydroxyurea
252
How does hydroxyurea benefit patients with sickle cell
it increases production of HbF which deceases the percentage of blood that sickles
253
What is the difference between Beta Thalassemia major and minor
Major is a complete absence of beta globin synthesis
Minor has one normal and one abnormal beta globin gene
254
What is the pathophysiology behind Beta Thalassemia
Excess alpha chins don't form tetramers, but adhere to RBC membranes damaging them.
255
What are the signs and symptoms of Beta Thalassemia major
Sever progressive hemolytic anemia in the second 6 months of life after HbF fades (Cooley's Anemia)
HSM, typically massive
Chipmunk facies from extramedullary erythropoesis
skin with copper color b/c of combination of pallor, icterus, melanin deposition
256
What are the signs and symptoms of Beta Thalassemia minor
mild hemolytic anemia with significant microcytosis usually less than 70fL
257
What is the normal range for MCV in kiddo's
70+Age (until age 10)
80-100 is normal adults
258
What is alpha thalassemia
Reduced synthesis of alpha globulin
259
What is alpha thalassemia one gene deletion
silent carrier
260
What is alpha thalassemia two gene deletion
alpha thal trait
mild hypochromic anemia with mild microcytosis
261
What is alpha thalassemia three gene deletion
Hb Barts (y) in infants
HbH diseas (B4) in adults
262
What is alpha thalassemia four gene deletion
Bart's disease; sever anemia;
incompatible with life
263
What is diamond blackfan syndrome
Red cell aplasia with boney defects
Bony abnormalities of thumbs (triphalangeal)
Webbed neck
Shield chest
Cleft lip
Elevated red cell adenosine deaminase
264
What is TEC
transient Erythroblastopenia of Childhood
Acquired pure red cell aplasia between 6 months and 5 years caused by bone marrow suppression (likely viral induced)
Normal adenosine deaminase
265
What is fanconi anemia
Autosomal recessive pancytopenia characterized by bone marrow failure
266
What are the signs and symptoms of fanconi anemia
Pancytopenia
Congenital abnormalities - short stature, microcephaly, microphthalmia, hearing loss, absent radii and thumbs, hyperpigmentation
267
What are the complications associated with fanconi anemia
AML
268
What is acquired aplastic anemia
pancytopenia
```
typically associated with:
Radiation
Drugs (chloramphenicol)
infections (parvovirus B19)
50% idiopathic
```
269
What is ITP
Idiopathic thrombocytopenia purpura
Most common cause of thrombocytopenia in childhood
Immune mediated
270
What are the signs and symptoms of ITP
epistaxis, bruising and petechial rash in otherwise well child; <1% have CNS bleed
No spleenomegaly
271
What is kasabach-Merritt
Rapidly enlarging cavernous hemangioma (usually cutaneous) an a consumptive coagulatopathy resulting in thrombocytopenia - stagnant blood flow in low-flow hemangioma leads to consumption of coagulation proteins
272
What is hemophilia A
Factor VIII deficiency
X linked
most common
273
What bleeding times are associated with Hemophilia A
prolonged PTT
Normal platelet count, PT, bleeding
274
What is the treatment for Hemophilia A
DDAVP to increase factor VIII levels in mild cases
Factor VIII in severe cases
275
What are the signs and symptoms of Hemophilia A
```
Increased bleeding by 1 year:
injection
circumcision
hemarthrosis
excessive bruising
```
276
What is hemophilia B
Factor IX deficiency
X linked
Vitamin K dependent factor
277
What is the most common inherited bleeding disorder
Von Willebrands disease
Autosomal Dominant
278
What is the dysfunction in Von Willebrands disease
decreased production of vWF
279
what is the role of vWF
platelet adhesion
platelet aggregation
carrier for factor VIII
280
What are the signs and symptoms of von Willebrands disease
prolonged bleeding from cuts, nose bleeds, menorrhagia, gum bleeding
Hemarthrosis are RARE
281
What are the vitamin K dependent factors
2, 7, 9, 10 and Protein C and S
282
With a vitamin K deficiency, what is a better indicator, PT or PTT?
PT
283
What can reduce vitamin K
Mal absorptive
lack of neonatal injection
Warfarin
Antibiotic suppression of bacteria producing vit K
284
What is DDAVP
desmopressin
