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Infective endocarditis criteria
Duke (2 major/1M + 2minor/5 minor)
M 1. ECHO vegetations 2. Blood culture (3x)
minor
F fever >38
I immunologic - Osler (fingers), Roth, GN, RF
V vascular - Janeway lesions, splinter hem, conjunctivitis, emboli
E vidence x2 - ECHO, Blood culture not meeting M criteria
R risk factors - IVDU, heart condition/CHD
Empiric antibiotics
-vanco/gentimycin - 4 - 6 weeks total
Micro: Strep viridans, HACEK, staph aureus, enterococcus
Rheumatic fever criteria
Jones (2 major, 1 major 2 minor)
+ GAS infection (ASOT, Swab)
S - subcutaneous nodules P - pancarditis A - arthritis C - chorea E - erythema migrans
F - fever
L - lab ESR, CRP
A - arthralgia
P - PR prolongation
Rx: Pen G IM or PO amoxicillin x 10 days
prophylaxis x 5 years or until 19
Innocent murmurs
pulmonary flow murmur newborn - < 5 mo (ULSB chest, axillae)
still’s murmur - 5yo LLSB, vibratory
venous hum - 5 years (jugular) - infraclavicular
pulmonary ejection murmur - 10 years old (ULSB)
carotid bruit - any age (supraclavicular over carotid)
TGA presentation & Rx
may have absent murmurs ECG - mild RVH or normal Egg shaped heart (narrow mediastinum) Normal to increased pul vascular flow Rx prostaglandin \+/- atrial septostomy Arterial switch
Cyanotic Congenital heart disease
CXR findings
Dec PBF
TOF - boot shaped
TA - rounded heart/enlarged (may have inc PBF)
EA - wall-wall cardiomegaly
Inc PBF TGA - narrow mediastinum, egg on string TAPVR - supracardiac (non obs) = snowman (cardiomegaly) - infraccardiac = obstructed - N heart HLHS - cardiomegaly with inc PBF
TOF presentation and Rx
minimal resp distress
SEM ULSB due to RVOTO
no hepatomegaly
boot shaped heart
dry lungs
RVH/RAD
Rx: surgery around 4 - 6 months
complications: Pulm insufficiency, arrhythmias
Long QT genetics
General Rx
Jarvell Lange Neison - AR, SNHL, syncope
Romano-ward syndrome - AD, FmHx, syncope
Timothy - webbed fingers/toes
Rx: beta blockers no competitive sports. Avoid swim avoid long QT meds \+/- ICD, pacemaker
Genetic syndromes predispose leukemia
Fanoni Shwachman Diamond SCID T21 NF1 ataxia telangiectasia Li Fraumeni Diamond Blackfan
Sudden risk of death (3)
Previous sx of exertional chest discomfort, dizziness or prolonged dyspnea with exercise, syncope or palpitations.
Fam Hx of prolonged QT, Marfans, sudden death, arrhythmias, cardiomyopathy.
Previous recognition of heart murmur or elevated BP.
ASD
wide, fixed split s2
grade 2/3 SEM LUSB
dilated RA, RV, PA
Pulsus Paradoxus
on inspiration, SBP drops > 10mmHg
ddx pericarditis tamponade asthma PE emphysema hypovolemia
heart lesions with: 22q11 T21 T13 T18 Marfan WIlliams Noonan Turner Alagille Ehler-Danlos Holt-Oram VATER
22q11 - TOF, IAA, TA T21 - AVSD** > VSD T13 - VSD, ASD, PDA, dextrocardia T18 - VSD, ASD, PDA, PS Marfan Dilated AO> MVP William - Supravalular AS/, PA Noonan - PS, HOCM Turner - Coarc, AS, bivalve, Ao dissection Alagille - peipheral PS Ehler - dil Ao, MVP Holt-Oram - ASD VATER - VSD
Neurocutaneous syndromes
genetic inheritance
Tuberous Sclerosis - AD
NF1, NF 2 - AD
Von Hipple Lindau - AD
Herditary Hemorrhagic Telactectasia - AD
Sturge weber - sporadic
PHACES - sporadic
Ataxia Telangectasia - AR
Inconinentia pigmenti - X linked
abnormal S2
S2 - closure of AV and Pv
widely split and fixed S2
ASD
PAPVR
Single S2
PHTN
PA, AS
TGA, TOF (P2 not audible)
Coarctation
classical signs CXR
3 sign on CXR
Rib notching (collatoral)
(E on barium)
Coarctation
classical signs CXR
3 sign on CXR
Rib notching (collateral)
(E on barium)
Cardiac arrest algorithm
Intervention + doses
PEA/asystole
- IV epinephrine 1:10,000 IV 0.01mg/kg q3-5min
- defibrillation shock 2J/kg, next 4kg/kg
up to 10J/kg
VF/VT
- shock ASAP
- IV epinephrine
- IV amiodarone 5mg/kg bolus x 2 times
ETT
age/4 + 4 (uncuffed) size
depth = size x 3
H'T's Hypovolemia Hypo/hyperkalemia Hypothermia hypoglycemia hypoxia Hydrogen (acidosis) Toxins Trauma Thrombosis (pulmonary, coronary) Tamponade Tension pneumo
Bradycardia PALS
meds
IV epinephrine 0.01mg/kg (1:10,000)
IV atropine 0.02mg/kg x 1 max 0.5mg
SVT PALS
IV adenosine 0.1mg/kg rapid bolus + 10ml flush
central line
synchronized shock - if unstable, no adenosine
0.5-1J/kg
increase 2J/kg
sedate if possible
SVT PALS
IV adenosine 0.1mg/kg rapid bolus + 10ml flush
central line
synchronized shock - if unstable, no adenosine
0.5-1J/kg
increase 2J/kg
sedate if possible
Torsades de points
polymorphous VT
- risk hypoMg and long QT
treatment:
stable - IV MgSo4 50mg/kg
- IV lidocaine 1mg/kg
(no amiodarone due to prolong QT)
unstable - defib shock
2J/kg
Torsades de points
polymorphous VT
- risk hypoMg and long QT
treatment:
stable - IV MgSo4 50mg/kg
- IV lidocaine 1mg/kg
(no amiodarone due to prolong QT)
unstable - defib shock
2J/kg
Prolong QT meds
antibiotics: macrolides, septra
antifungal: fluconazole, itraco, keto
antidep: TCa, haloperidol, risperidone
antiarrhythmic: amiodarone, procainamide, sotaol
oral hypoglycemics: glyburide
organophosphate
promotility: cisapride
Electrolytes: HypoK, hypoCa, HypoMg (ie lasix)
Brugada syndrome
rare condition. C/o palpitations, syncope
normal exam. ECHO normal
ECG: RBB, J point elevation, Concave ST elevation best in V1
No drug including BB helpful
NEED ICD to protect
Galactosemia
CHO metabolism disorder hepatomegaly, jaundice, FTT e.coli sepsis neurocognitive Cataracts
Dx: RBC GALT
other: +conjugated bili, INR, Hemolytic anemia
+ urine reducing substance
Glycogen storage disorder Not Pompe
massive hepatosplenomegaly
short stature
bleeding diathesis
hypoglycemia, lactic acidosis,
dec reponse to glucagon
Methylmalonic acidemia
Organic acidopathies (other = Proprionic acidemia)
HIGH AG metabolic acidosis, ammonia, LE Urine OA
hepatosplenomegaly, seizures, vomiting, FFT
cardiomyopathy
Rx low protein diet, L carnitine
urea cycle defect
ie OTC (x-linked)
Respiratory alkalosis
elevated hyperammonia
OTC: inc urine orotic acid
low protein sodium benzoate (NH savengers)
Calculate GCS. Kid has abnormal flexion of arms and legs to pain. Eyes open to pain. Incomprehensible sounds.
GCS = 7
E4M6V5
E=spont/voice/pain/none
M=spont/touch/withdrawal pain/flex to pain/ext to pain/none
V=oriented/confused/inappropriate/
incomprehensible/none
Neurofibromatosis
inheritance
criteria
surveillence
AD inheritance CAFE SPO(t) 2/7 C - cafe au lait x6 < 5mm young, >/=15mm puberty A - axillary freckling F - neurofibroma (2) or plexifibroma (1) E - eye: Lisch nodules/iris hamartoma (2) S - skeletal - sphenoid dysplasia P - pedigree (1st degree family) O - optic glioma
annual ophtho exam, BP
follow neurological exam, skeletal exam, derm findings
Tuberous Sclerosis
inheritance
criteria
surveillence
AD inheritance
2/11 (major)
Skin (4) Brain (4), lung, heart, kidney Skin A - ash leaf x3 S - shagreen patch A - facial angiofibromas P - periungal fibroma
Brain eye - retinal hamartomas subependymal nodules subependymal giant cell astrocytoma cortical tuber
Lung - LAM lymphangioleiomyomatosis
heart - rhabdomyoma
kidney - angiomyolipoma
Rx @ ddx MRI, EEG, ophtho
ECG, ECHO, RUS
MRI head, RUS q1-3years
CT chest, PFT adulthood
mental health monitor
Seizures usually < 1 year old
Sturg Weber syndrome
inheritance
clinical
Rx
sporadic clinical: nevus flammeous V1/V2 distribution glaucoma CT head - leptomeningeal angiomatosis seizures hemiparalysis developmental delay
Von Hippel Lindau
inheritance
clinical risks
monitoring
cerebellar hemangioblastoma
retinal angioma
Pheochromocytoma
renal cell carcinoma
audiology testing 1 - 4 yo: eye, neuro exam annually 5 - 15: urine amphetamines 8year old on - RUS annual MRI head/spine16 yo + q2 years
PHACE syndrome
Posterior fossa Hemangioma Arterial -(cerebral vascular abnormalities) Cardiac - coarc Ao Eye - glaucoma, cataracts
*risk of stroke with head/neck cerebral arterial malformations. Possible coarct/VSD etc
before initiate propranolol –> OPTHO, ECHO + cardiology, MRI head
Incontinentia pigmenti
X linked
skin lesion s- hyperpigmented whorls and swirls with Balshko lines. (resolve)
conical deformities of teeth
eye: cataracts, strabismus, retinal changes
Seizures, ID, splastic paralysis
Hypomelantosis of Ito
Sporadic disorder Hypopigmented whorls/streaks follow Blashko’s lines Seizures, mental retardation Hemihypertrophy Cardiac - TOF, pulmonary stenosis
developmental delay
initial w/u
CBC, LE, RFT, lytes MRI head microarray if 2 or more anomalies karyotype, MCEP2 (Rett), Fragile X met- low yield unless clinical
Rett criteria
hand wringing developmental regression - speech gait abnormalities loss of hand skills seizures microcephaly (acquired) -not have abnormal psychomotor retardation in < 6mo and no hx of brain injury, metabolic etc.
genet testing MEP2
Febrile seizure
Risk factors for recurrence
Risk factors to go onto epilepsy
RF recurrence
short time from fever to seizures
family history febrile seizure
younger age
RF epilepsy short time from fever to seizures family history epilepsy complex seizure abnormal development recurrent febrile seizure
C/I to AED
absence/myoclonic seizures
- no carbamazepine or phenytoin
IEM or developmental delay unknown
- valproic acid
S/E Valproic acid phenytoin carbamazepine lamotrigene vigabatrin ethosuximide topiramate
(all drowsiness and GI upset)
VPA -thrombocytopenia, hepatotoxicity, pancreatitis
phenytoin - gingival hypertrophy, SJS, ataxia/tremor
carbamazapine - rash, liver toxic, agranulocytosis, SJS
lamotrigene - SJS
vigabatrin - retinopathy
ethosuximide - agranulocytosis
topiramate - kidney stones, glaucoma
breath holding spells
age
what look like
treatment
6 - 18 months
pallid or cyanotic
precipitated by emotion/surprise/injury
1min, no post ictal
1 ) apnea with cyanosis or
2) limp, pallor, diaphoresis
Reassure
treat Iron deficiency
100% away by age 8
empiric AED for
- absence seizures
- infantile spasms
- focal seizures
- general seizures
- absence - ethosuximide > VPA
- infantile - ACTH, vigabatrin
- focal - carbamazepine, keppra
- general - VPA, keppra, lamotrigene
Migraine headache criteria
5 or more attacks each last 1- 72hrs 2 characteristics -severity -unilateral -Throbbing -Aggravated activity/avoidance 1 association -Nausea/vomiting -Sensitivities
headache Indications for neuroimaging
neurofocal findings worst in AM awakens at night unusual headaches - occipital, thunderclap recent head injury seizures or academic deterioration
migraine with brainstem aura
basilar
at least 2 attacks
AURA - visual, auditory, speech reversible, no motor/brainstem
2 characteristics
- dysarthria
-vertigo
-tinnitis
-hypacusis
-diplopia
-ataxia
-decreased LOC
At least 2 of the following 4 characteristics:
1.
At least 1 aura symptom spreads gradually over 5 or more minutes, and/or 2 or more symptoms occur in succession
2.
Each individual aura symptom lasts 5-60 minutes
3.
At least 1 aura symptom is unilateral
4.
The aura is accompanied, or followed within 60 minutes, by headache
REd eye reflex ddx
glaucoma
cataracts
high refractive error
retinoblastoma
Eye findings with syndromes:
- T21
- WAGR
- Waarenburg
- NF1
- Wilsons
- Williams
- CHARGE
- Brushfield spots
- Anisoria
- Heterochromiia
- Lisch nodules
- Kayser Fleischer
- Stellate
7 Coloboma
Bone tumor
Osteosarcoma vs Ewing
Osteosarcoma -sunburst,cloud like metaphysis long bones -usually solitary lesion -chemo then surgery (no radiation)
Ewing Sarcoma
- onion skin, moth like , periosteal reaction
- diaphysis long bones
- can be multiple
- more common < 10 yo
- chemo, RADIATION
Lupus criteria
4/111 MD SOAP BRAIN M - malar rash D - discoid rash S - serositis O - oral ulcers A - ANA P - photosensitivity B - blood - pancytopenia R - renal GN A - arthritis I - immunologic ds DNA, anti sm, APL N - neurologic
other: lab
- normal CRP elev ESR
- low C3, C4
- elevated IgG
- possible RF, Anti Ro, La
Lupus treatment
hydroxychloroquine
- standard therapy
+/-corticosteroids if nephritis, hematological crisis, CNS disease
- possible azathioprine, MMF, cyclophosphamide
Acute rheumatic fever
criteria
treatment
2M or 1M+2minor Need GAS evidence Major S - subcutaneous nodules P - pancarditis A - arthritis C- chorea E - erythema marginatum
Minor F - fever L - lab ESR, CRP A - arthralgia P - PR prolonged
Treatment: PO amoxicillin x 10days naproxen/ASA until arthritis resolves proph IM PenG qmonthly or PO Pen V BID x 5 years or until19 prednisone for carditis PHB for chorea
Granulomatosis with polyangitis
+ANCA
URT, LRT, renal
Kawasaki disease
bloodwork
leukocytosis thrombocytosis anemia (N indices) elevated CRP, ESR LE, mild hyperbili hypoalbuminemia sterile pyuria
Rickets
Skeletal findings
craniotabes
delayed closure fotntanelles
parietal and frontal bossing
rachitic rosary - enlarged constochondral junction
widening wrist, bowling of distal radiusulna
Harrison sulcus - (muscular pull of diaphragm)
MAS
lab - what is low?
Low: ESR, Fibrinogen
Drug induced lupus
medications
minocycline (tetracyclien)
anticonvulsants
hydralazinne
development of SLE like symptoms (fever, arthralgia, arhtritis, serositis) usually no discoid/malar rash
more insiduious onset
continuous drug > 1mo
similar cytopenia, high ESR
catalase positive pathogens
list (4)
(who at risk)
staph aureus aspergillus nocardia serratia marcescens burkholderia salmonella
phagocytes –> CGD
Anaphylaxis criteria
- skin AND one of following
- resp
- cardio (BP) or end organ (syncope, collapse) - suspect/KNOWN + 2 or more
- skin
- resp
- BP low or end organ
- GI symptoms - KNOWn and hypotension
Bruton’s agammaglobinemia
xlinked
No B cells = no lymphatic = no immunoglobulins
Males, usually 6 - 24mo
recurrent Sinopul, OM, GI, meningitis, sepsis
encapsulated - strep, Hflu
enterovirus meningocephalitis
Lx: absent IgG,A, M,E
Rx IVIG for life
leukocyte adhesion defect
rare
deficiency in adhesion molecules for phagocytosis
delayed separation of umbilical cord (>4weeks)
NO PUS
staphylococcal infection - dental, ginvigitis, inestinal
Lx: neutrophilia (not function), absent surface adhesion molecules
Rx: BMT, antibiotics
Ataxia Telangiectasia
AR in ATM gene (DNA repair) ataxia--> telanectasias immunodef - IgA low (sinopul, encapsulated) risk malignancy (15% lymphoma)
Supportive only
IVIG
BMT not work
Ataxia Telangiectasia
AR in ATM gene (DNA repair) ataxia--> telanectasias immunodef - IgA low (sinopul, encapsulated) risk malignancy (15% lymphoma)
Supportive only
IVIG
BMT not work
Low complement (3)
SLE
Post-strep GN
membrano-proliferative GN
liver disease
specific antibodies for rheumatic diseases
SLE
Systemic sclerosis
JDM
SLE
- dsDNA, sm, Ro, La
- histone (drug induced as well)
Sclerosis
- systemic = Scl70
- Limited (CREST) = centromere
JDM
- Jo1
associations
c-ANCA
p-ANCA
C-cytoplasmic CR3
Wegners - granulomatosis with polyangitis
P-perinuclear MPO
- microscopic polyangitis
- eosinophlic granulomatosis with polyangitis
- UC, primary sclerosing cholangiits
- SLE
vasculitis
categories and names
large - Takayasu Med - KD, polyarteritis nodosa small 1. ANCA associated - microscopic polyangitis -eosinophilic granulomatosis polyangitis -granulomatosis polyangitis (wegner) 2. Immune complex - IgA variable - Bechet
Takayasu
angiographic evidence - aorta/branches AND one of 5 - claudication - limb BP differences - HTN - bruit - acute phase reactant
Polyarteritis nodosa
medium vessel
histological - necrotizing vasculitis angiography AND 1/4 Skin - Erythema Nodosa myopathy renal involvement HTN peripheral neuropathy
rx: steroid rapid wean
Kawasaki disease
counselling
recurrence risk 2%
no live vaccines 11mo (after IVIG)
influenza vaccines (not live)
athersclerosis risk - active living
Live influenza contraindications
severe asthma
(on PO, current wheeze, medically treated wheeze < 7 days, high dose ICS)
2-17 year old on ASA (Reye)
immunodeficiency/Pregnancy
HSP IgA vasculitis
management & counseling
supportive NSAIDs arthritis prednisone - severe GI recurrence 1/3 monitor U/A and BP x 1 year (most settle 1 month) ESRD 1 - 3%
anaphylaxis
Treatment
IM epi 1:1000 0.01mg/kg (max 0.5) q 5 - 15mins
steroids, ranitidine, desloratidine, ventolin
IV fluids bolus PRN
if > 3x epi pen and still hypotenisive, IV epi infusion (1:10,000) 0.1 - 10 mcg/kg/min
glucagon(if BB)
Bolus 20 – 30 mcg/kg (maximum 1mg) then infusion 5 – 15mcg/min
monitor 4 -6 hr (biphasic 1 - 72hr)
risk factors for biphasic reaction in anaphylaxis
delayed epinephrine
more than 1 dose epi
severe symptoms at presentaiton
Prevention food allergy in high risk ifnant
first degree with atopy
- exclusive BF 6mo
- not delay introduction of food
- can try hydrolyzed formula
- regular introduction of newly introduced food to maintain tolerance
venom allergy Rx
- anaphylaxis
- generalized cutaneous
Anaphylaxis
- needs allergy referral (possible immunotherapy)
- EpiPen, medical allert
generalized cutaneous
if > 16 risk of systemic reaction higher, so refer
Drug allergy
2% with proven penicillin allergy will reaction with cephalosporin
Options:
1. give alternative drug
2. give cephalosporin via graded challenge
3. desensitize to cephalosporin
2 pain syndromes
ddx
Fibromyalgia - pain at least 3 areas x 3 months (without underlying cause, N bloodwork) - more than 5 of 18 tender points minor: 3/10 - sleep, fatigue, headaches, anxiety - IBS, subjective tissue swelling, pain
complex regional pain
regional pain and 2 from each category
1. neurogenic
- burning/allodynia/cold hyperalgesia/parasthesia
2. autonomic
- cyanosis, mottling, hyperhidrosis, cool, edema
Causes of uveitis (5)
- systemic and infectious
JIA (oligo, poly) ERA SLE KD cat scratch Lyme disease tuberculosis
complications uveitis (4)
synechae
glaucoma
cataracts
vision loss
Reactive arthritis
bacteria (3)
campylobacter salmonella shigella yersinia chlamydia, ureaplasma
arthritis - after 1 -4 weeks
Septic arthritis
Kocher criteria
microbacteria
empiric antibiotics
Kocher 3/4 = 93% 2/4 = 40%
- non weight bear
- ESR > 40
- fever
- WBC > 12
staph aureus, GAS, (strep pneumo)
neisseria - teenagers
salmonella - SSD
Rx
IV nafcillin or ancef or clinda or vanco
total 3 weeks min (switch PO when improve)
periodic fever
PFAPA
FMF
periodic fever= 3 episodes in 6months. at least 7 days apart
PFAPA
= periodic fever aphthout stomatitis, pharyngitis, adenitis
- inheritance unknown
- regular periodicity ~ q21 days, 7 days duration
- fever
- < 5 years old. self limited (resolves 5 years)
- throat cultures negative
Rx: single dose corticosteroids
FMF AR, < 20 yo fever 1 -3 days. Variable frequency serositis skin - erysipelas like rash mono arthritis well between episodes Rx; colchicine (prophy) prevent amylodosis
Raynauds phenomenon
what, causes, rx
vascular spasm leading to triphasic color
white (ischemia)
blue (cyanosis)
red (erythema due to perfusion)
primary
secondary - SLE, scleoderma, JDM etc
(risk to autoimmune - ANA, nail bed)
rx: avoid triggers
nifidepine (peripheral vasodilator)
IV prostaglandin
Sjogen’s
autoimmune ANA positive AND RF or RO/La keratoconjunctivitis sicca (dry eyes) xerotstomia (dry mouth) Rx: supportive treatment
systemic scleroderma
5 systemic involvement
skin - sclerodactyly, calcium deposits, telangiectasia
lung - PHTN, ILD
MSK - polyarthritis, milld weakness
heart - pericarditis, arrhythmias
Gi - SEVERE GERD, bacterial overgrowth, malabsoprtion
GU - renal HTN, proteinuria
rx> MTX for active diases
Parry Romberg syndrome
Linear scleroderma - involves face below forehead
- progressive hemifacial atrophy
- can be assoicated with intracranial lesions, seizures, uveitis, dental abnormalities
JDM criteria
proximal bilateral weakness heliotrope rash, gottron's papules lab: CK AST, LDH, aldolase EMG: denervation and myopahty Bx: necrosis and inflammation
Lx: ANA, anto Jo1
Rx: induce corticosteroids, MTX.
50% chronic course
small vessel vasculitis
GPA - c ANCA
- upper, lower resp tract
- GU - HTN involvement
- significant morbidity 11% dialysis
EGA
- eosinophilia
- lung - parasinus, pulmonary infiltrates
- heart - MI, pericarditis
dx: lung biopsy
MPA
- pulmonary-renal
- RPGN, HTN, pul hemorrhage, palpable purpura
Bechet’s disease
variable size vasculitis
recurrent ora ulcers 3x/12monwths
oral/genital ulcers
pathergy
skin - Erythema nodosum
uveitis
IgA vasculitis (HSP)
purpura AND
- hematuria
- arthritis
- abdominal pain
rx: supportive, NSAIDS
f/u BP, U/A up to 1 year
< 5% ESRD
recurrence 1/3
JIA classification
criteria
> 6 weeks, < 16 years onset
- Oligo 4 joints or less (ANA + uvelitis risk)
- persistent
- extended - > 4 joints in 6mo - Poly 5 or more joints +/- RF
- SJIA - fever 2 weeks + arthritis + 1/4
(HSM, LN, evevesant rash, serositits) - ERA: entheritis and arthritis OR either with 2/5: (SI joint pain, Fmhx, boy >6yo, HLAB27, sym uveitis)
- psoriasis: arthritis + 1
(Fmhx, dactylitis, nail pits)
JIA x ray findings (4)
accelerated growth accelerated maturation loss cartilage erosion osteoporosis
JIA complications (4)
misaligned joints muscle atorphy growth disturbance delayed motor development leg-length discrepency contractures
hypoglycemia critical sample (10)
hormone: Cortisol, IGF1 , insulin, glucos Ketone/FAOD: Betahydroxurlate or urine ketone, FFA, acylcarnitine profile IEM: Lactate, Urine aa, oo, serum aa Other: C peptide LE, ammonia N, K toxicology
Sweat Chloride
False negatives
False positives
False negative
- hypoalbumin
- edema
- poor technique
False positive -malnutrition adrenal insufficiency glycogen storage disase hypothyroidism Nephrogenic DI eczema
unsuccessful
- premature
- low weight
- poor technique
3 other ways other than Sweat chloride to confirm diagnosis
serum IRT - immunoreactive tyrpsin
nasla potentials
gene analysis
Chronic wet cough
DDx (5)
CF primary cilliiary dyskinesia immuno deficiency bronchiectasis missed foreign body chronic infections - TF asthma
ARDS criteria
lung compliance
- acute severe resp distress
- bilateral infiltrates
- not by cardiac failure/causes
- PF ratio - PaO2/FiO2 < 200
CF related organisms
staph aureus pseudomonas aeruginosa burkholdreia cepacia (H.influenazae Aspergillus)
DM1 targets
age < 6 : 6- 10; Hgb A1C 8
age < 12: 4 - 10: Hgb A1c 7.5
Age > 13: 4 - 7: Hgb A1c 7
DM1 monitoring
>12yo, + 5yr dx - ACR annual >15 yo + 5yr dx - ophtho annual @12, 17 yo - dyslipidemia BP 2x/year TSH, T4 - @ ddx, q2yrs clinical - celiac, addison's
Hypoglycemia DM1 management
CHO 10-15g (~100ml juice) recheck 15 mins SC/IM mini glucagon 10mcg/year age (home) Hospital Dextrose bolus < 20kg = 0.5mg IM >20kg -1mg IM
Risk factors cerebral edema DKA
age < 5 years old new onset diabetes bicarbonate IV insulin bolus IV insulin within 1hr of fluids rapid fluid boluses failure of Na to rise during treatment
who to screen for DM2?
5
screen q 2 yrs with fasting glucose
if +obese, OGTT might be more sensitive
>/= 3risk factors pre puberty
>/=2 risk factors puberty
family history or exposure in utero insulin resistance (acanthosis nigrans, HTN, PCOS, dysl) BMI >/= 95% aboriginal, Hispanic antipsychotic atypical meds
DM2 managment
target HbA1c < 7
metformin - if fail lifestyle for 3-6month
insulin (start immediate if Hgb A1c >9)
- lifestyle change - eating, exercise, sedentary lifestyle
- screen comorbidity
@ dx and yearly
- ACR, Ophtho, dyslipidemia, AST (NAFLD)
- BP 2x/year
- clinical neuropathy, PCOS
clinically significant #’s
2 or more long bones by 10yo
3 or more by age 19
any vertebral compression #
DEXA scan –> Z scores in kids!
Definition of
precocious puberty
delayed puberty
Male (normal 9 - 14)
< 9 yo
> 15yo
Female (normal 8 - 13)
< 8 year old
> 14 year old
>16 no menses
side effects (4) antithyroid med
methimazole/prophylthiouracil
- agranulocytosis (white)
- hepatotoxicity (yellow)
- rash/serum sickness like (red)
- teratogen
- hypothyroid (non permanent)
Oxygen index
OI = MAP x FiOW/PaO2 x 100
Generally OI > 40 indicates need for ECMO
Findings Resp distress syndrome CXR
ground glass
air bronchograms
hyperinflation
B12 deficiency manifestations (5)
macrocytic anemia hypersegmented neutrophils parasthesia ataxia seizures dementia deprression fatigue glossitis
vitamin C deficiency
5 manifestations
hypertrophic gums/gingival disease easy bleeding petechiae roasry pseudoparalysis poor wound healing perifollicular hemorrhages
pellagra what is it?
manifestations
niacin (vitamin B3) deficiency
- stable food dependent on usualy corn/Kwashi patients
- photosensitive, dermatitis like picture
- dementia
- diarrhea
FTT investigations (10)
CBC, diff iron studies IgA, TTG LE, renal function electrolytes, extended U/A CRP, ESR TSH albumin, protein serum immunoglobulins
2nd step sweat chloride stool elastase vitamin levels bone age
zinc deficiency
acrodermatitis enteropathica
- AR disease, zinc malabsoprtion
rx zinc for life
oerporal, acral, perinala regions with vsiculobullous, ecematous patches - glottitis growth retardation superinfection poor wound healing
Celiac disease
manifestations
classic - FFT, diarrhea, abdomianl distension, pain, vomiting, cachexia dermatitis herpetiformis refractory iron def anemia short stature seizure with occipital calcification dental enamel hypoplasia osteoporosis
Celiac disease testing (3)
ttG and IgA EMA - anti endomysium AGA - anti glaidin CBC, iron studies albumin
Celiac disease
associated syndromes
T21 Turners Williams DM1 autoimmune thyroiditis selective IgA def 1st degree celiac FmHx
Celiac disease histology findings
name 4 other ddx
villous atopy
CMPA viral infections EoE Crohn's immunodeficiency malnutrition
Contraindications to air enema/contrast enema for intussusception
peritonitis
persistent hypotension
free air/pneumoperitoneium
IBD
skin manifestations
pyoderma gangenosum erythema nodosum crohn's metatatic disease perianal fistulas dental - pyostomatis vegetans
IBD life threatening complications
GI hemorrhage
toxic megacolon
GI obstruction
GI perforation
differences between Crohn’s vs UC
Crohn - transmural, skipped lesions, oral to anus - cobblestone - less likely bloody diarrhea perianal/oral disease more likely nephrolithasis and choleithiasis -strictures, obstruction - more Growth impairment
UC
- higher risk PSC
- more common than Crohn
- more likley to present< 10 yo
Functional constipation
1 month duration, 2 or more:
- < 3 BM in toilet
- unable to flush
- retentive behaviour
- large caliber rectum
- fecal soiling
- painful or hard BM
Functional diarrhea
4 weeks onset 6 mo - 5 years occur waking ours painless >/=3 unformed stools no FTT if adequate itnake
