Memorize Flashcards
What is age of consent for sex?
16 in canada 12-13 year old can have sex 2 years older 14-15 can upto 5 years older not authority and not exploitation (until 18yo)
approx 2/3 youth have one partner only, and 1/3 of youth have had sex.
Pregnancy rates are delcining, and 50/50 do abortion. same rates post part depression, and 1/3 will have another babe within 2 years
Birth control - OCP
Absolute CI
s/e
Also depo s/e
HTN -160/100
migraine wiht aura
DVT hx
liver cirrhosis/hepatitis, DM with vessel disease
s/e -NOT weight gain, (estrogen effect: nausea and h/a), breatkrhoguh bleeding (may not be high enough estrogen) , breast tender. Reduced PMS, ovarian cyst, acne, certain cancers.
Intrxn with anticonvulsants, abx OK
–
Depo - no inc DVT risk but amenorrhea, weight gain and reduced BMD, deprresion. USE vit D and Ca with it
Diagnostic criteria for Anorexia nervosa and hospital admission criteria
1) restriction of energy intake leading to low weight relative to whats appropriate for developmental trajectory/age
2) intense fear of gaining weight and compensatory behaviours to prevent weight gain
3) Disturbance in the way in which one’s body weight or shape is experienced, undue influence of body weight or shape on self-evaluation, or persistent lack of recognition of the seriousness of the current low
body weight
ADMISSION - low HR 45/50, hypotension, electrolyte abn, orthostatic changes, ECG changes/abn, psych (SI, abrupt food refusal)
diagnostic criteria for Bulimia
1) binge eating (lack of control of eating large amount + discreet amount of time)
2) compensatory behavior to prevent weight gain
3) occur 1x/w for 3 months min
4) self evaluation is based on weight/body shape
5) does not occur during AN
(if just bringing and no compensatory behav then its binging disorder)
Define 1 key characteristic for age -
EARLY adolescence
MID adolescence
LATE adolescence
early (10-13yo) - concrete operation, self conscious about appearance, start of puberty
middle (14-16) - more conflict with parents, abstract thinking start, struggle for autonomy, sexual orientation questions. sense of immortality
late 17-20yo - idealism and absolutism, future oriented, emancipation complete, increased autonomy, focus on plannning and formation of stable relationships
which tanner stage does
1) testis grow
2) scrotum enlarges
3) phallus length increase
4) scrotum darkens
which tanner stage does
1) testis grow – tanner 2
2) scrotum enlarges – tanner 3
3) phallus length increase – tanner 3
4) scrotum darkens – tanner 4
for females which tanner stage does
1) breast bud
3) breast tissue beyonf areola
3) secondary mound
4) hair not on thigh only vagina
1) breast bud - tanner 2
3) breast tissue beyond areola - tanner 3
3) secondary mound - tanner 4
4) hair not on thigh only vagina - tanner 4
what are four things to rule out before diagnosing PUBERTAL gynecomastia in males?
can f/u in 6 month if just pubertal (firm or rubber mass that is subareolar, with normal testis exam
COME
Cancer (thyroid, pit, adrenal)
Obesity
Medications (steroids, TCA, weed, ETOH)
Endocrinopathy (klinefelter, CAH)
What are indications for tubes
1-recurrent AOM with middle ear effusions
2-bilateral OME>3 months with CHL
3-unilateral OME ?3 month with other issues (discomfort school perf)
40 others - complications like mastoiditis, lack of response, chronic retracted TM
with TM perforation what is false
1) most heal iwthin 6 weeks
2) you cannot use ciprodex
3) repaired at 10yo
you CAN use ciprodex drops and should be used.
12 yo draining left ear for one year - what is likely diagnosis
1) cholesteatoma
b) AOME
c) Otitis externa
d) perforated AOM
cholesteatoma - unilateral foul smell
persistant and recurrent and responds to ototopicals but recurs by months
(intracranial complications in 0.36%)
Deafness can be caused by all except (if parents have normal hearing)
1-cmv
2-ionic homeostasis within cochlea affected
3-branchial oto rental sx
4-mondini deformity
branchial oto rental sx
(AD - would also be in parents)
monidni is inner ear issue with 1.5 coils instead of 2
what are the ABCDs of hearing loss
50% acquired
50% inherited
- connexin 26 most cmoon genetic AR cause , transmembrane protein that recyclkes K
Affected family member Bili high Congenital TORCH Deformity s- SMALL <1500g, low apgar, nicu stay
without screen detect at 18mo, goal is diagnosis and habilitation by 6 mo
13yo M wiht severe chronic epistaxis with normal bleeding tests 1- rpt tests 2- transfuse prophylactic 3- refer to ENT d- start steroids
REFER - need to rule out juvenile nasal angiofibroma
secondary indications of OSA include?
enuresis ADHD daytime somnelence FTT cor pulonale
name 6 causes of stridor organized:
supraglottic
subglottic
and tracheal
laryngomalacia, epiglottitis
subglocttic- stenosis, hemangioma, croup
tracheal- tracheomalacia, FB, complete tracheal ring, TEF
patient presents with torticollis and drooling with fever at 4yo
diagnosis
treatment
bugs
remember trismus - peritonsilar abscess , or supporative parotitis (can also happen with RPA)
torticollis ddx - pseudotumor of infancy, CN4 palsy, cerebellar tumor of post fossa
RPA
(involutes by 5yo)
GAS, oropharnygeal and staph
Xray C2-7mm, C6-14mm or >1veretbrae, loss of normal lordosis
treatment IV clinda and ceftriaxone +/- drainage
Complications - Upper airway, lemieres syndrome (throbophlebitis of JV), coronary artery sheath erosion
VERSUS lemierre DISEASE is infxn of oropharynx causing septic thrombophlebiyis and metastatic emboli to lungs, fusobacteriu, neocrophorum cxr cavitations and effusion
what are 4 absolute indications for T and A
and 4 elective ones
risk of re bleed 7-10 days after seperation of eschar
ABSOLUTE tumor of tonsil uncontrollable hemm extreme obst causng apnea interfereing withs wallow
ELECTIVE infxn >7/y, >5/2yr, >3 /yr/3years >1 PTA, or PTAx1 if recc infxn PANDAS PSG - disordered breathing of >10 episodes per hour
name tumors of the necl
small round blue cell tumor - lymphoma,r habdo, ewing
thyroid carcinoma
neuroblastoma
langerhand cell histiocytosis
Marfan disease associated with which heart defect
MVP (mid systolic click), dilation of ascending aorita
whats the following murmurs
fixed split S2, low pitched systolic ejection
systolic ejection murmur radiated to neck
systolic ejection murmur radiating to back
high piched systolic regurg murmur at LLSB
fixed split S2, low pitched systolic ejection- ASD
systolic ejection murmur radiated to neck - AS
systolic ejection murmur radiating to back - PS
high pitched systolic regurg murmur at LLSB - VSD, MR
which long QTc associateed with hearing loss
Jerve Diel Nielson
treatment is with beta blocker
cannot interpret QTc if have WPW or bundle branch block
who qualifies for palizvumab
**rememebr norwood/sano or shunts oxygen 75-85% can be normal
arterial swtihc sat 100%
wiht single outlet ventricle - first surgery is GLENN at 4-6mo (sat 75-85)
and then fontan at 2-4yo sat >90%
1) CHD or CLDneeding oxygen or meds and are <12 months, can consider for 2nd season in weaned off oxygen in last three months or still on oxygen
2) <30 week without CLD who will be 6 months at start of season
3) inuit/remote that is <36week and will need to be flown in if <6mo start of season
4) NOT needed it pid, CF or DS –prophylaxis may be considered for children <24 months of age who are on home oxygen, have had a prolonged hospitalization for severe pulmonary disease or are severely immunocompromised.
for KD - what is the long term management for anticoag for the following
1) normal or transient dilation z score <2.5 -
2) 2.5-5 small aneursyms -
3) medium anyresym is 5-10 long term antiplatelet therapy (ASA for life)
4) >10 or large
1) normal or transient dilation z score <2.5 - antiplatelet) x 6 w
2) 2.5-5 small aneursyms - low dose ASA beyond 6 w
medium anyresym is 5-10 long term antiplatelet therapy (ASA for life)
3) >10 or large - ASA for life and anticoag with maybe beta blocker
endocarditis prophylaxis needed for dental procedures or GU or GI or skin msk surgeries if there is an infection cover for entterococi with amp or vanco
or resp - invasive procedure of the respiratory tract that involves incision or biopsy of the respiratory mucosa, such as tonsillectomy and adenoidectomy, NOT just bronch
Amox before the procedure as one dose - upto 2hours after surgery
Prosthetic cardiac valves
Previous infective endocarditis
Unrepaired cyanotic congenital heart disease, including palliative shunts and conduits
Completely repaired congenital heart defect with prosthetic material or device, during the first six months after the procedure
Repaired congenital heart disease with residual defects at the site or adjacent to the site of a prosthetic patch or prosthetic device (which inhibit endothelialization)
Cardiac transplant recipients with cardiac valvulopathy
Rheumatic heart disease if prosthetic valves or prosthetic material used in valve repair
what are the four innocent murmurs
1) venous hum - louder when sitting , from jugular turbulence
2) stills murmur, ejection murmur (AV/MV position)
3) peripheral pulomary artery stensos in new borns till 3 months (lung/back are)
4) physiolical pulm flow murmur (P area over 3yo and louder when lying down)
classic places for these murmurs to be heard?
ASD AS PDA PS VSD
fASD - fixed split, low pitch AS - radiate to carotids PDA - radiate to back coarct - radiate to back PS - radiate to back VSD - LLSB. regurg murmur or at apex if MR
single S2 is never normal (usu due to having only one valve)
To and fro is TOF with absnet pulmonary valve
click is a valve stenosis
what are two genetic conditions that cause LQTS and their associated findings
Jervell Lange Nielson - AR, SNHL assocaited and CHD
Romanoward - AD and only cardiac phenotype
SCREEN - ecg, and can do parental ecg too
>470 seconds considered long
males 440 female 460 is normal
(other causes low Ca, Mg, or TCAs)
name four causes of acquired LQTS w workup hx/physical ecg serial parental ecg holter echo (exercise test u have to watch them after)
1) hypo K, hypo Mg, hypo Ca
2) meds (benadryl, psychotopics like rispirdone and like haldol, furosemide, abx)
3) endo hypothyroidism, pheo, hyperparathy
tx beta blocekr is first like and may need pacemaker if profound
WPW - three findings on ecg
two outcomes possible
cause - accessory pathway in bundle of KENT (AV path)
short PR interval
wide qrs
delta wave
Can cause sudden death or SVT - must avoid DIGOXIN
SVT presentation
ECG findings
Tx
commonly idiopathic cause
commonly within 4mo life present wiht CHF
HR>220
absnet P waves. narrow cqrs, regular rhythm (no variance in RR)
tx- stable adenosine, or synchronized 0.5-1k/kg
maintenace is beta blocker
match these conditions with associated cardiac abn
t18-edward t13-patau VACTERK turner FAS digeorge william alagile marfan
t18 - edward- vsd, polyvalvular
t13- pda
turner-coarct and bicuspid aortiv valve and AS
FAS- VSD, conotruncal
VACTERAL-asd csd pda
digeoge, TA, inturrupted aortic arch
william supravalcuar AS
alagile - periperhal {PS, DORV
marfan MVP and aortic root dilationname 5 duct dependant lesions
transpostion of GA with intact septum PS PA AS TOF severe coactation hypoplastic L heart
ASD findings on ecg
usu asymptmatic - usually poor growth, reccurent infections
These get LAD
VSD present 6 weeks when PVR decreases - most self fix by 4yo
AVSD similar presentation but repair at 6 mo
PDA (wide pulse pressure with continous machine like murmur)
fixed split s2 systolic ejecton murmur wiht diastolic rumble due to inc flow acorss trivuspid
usu if closed b4 25 does ok
if secundum then RAD
if pri,um then LAD and endocardial cusion defect
remenber VSD most common congenital lesion
Diagnosis and treatment of Tet spell
most common cyanotic CHD
repaoir best at 4-6mo
still at risk of cardiac death, arrythmias, RV dysfunction
TOF- PS, overriding aortic arch, VSD, RVH
- ant displacement of infundivular septum- sx based on RVOT obstruction, at risk of stroke
Single S2, RVH, RAD, boot shape
Treat with oxygen and fluids, knee to chest, morphine, inc SVR with phenylepherine
betablocker- to lesson RV outflow obstruction
presentation timing of heart lesions
NEWBORN
6 weeks when PVR drops
LATER
newborn: TGA - egg on string TOF - boot TA: left axis+LVH TAPVD (PGE make it worst) - snowman Tingle ventricle, days-1w when PDA closes
6weeks: VSD, PDA, coarct,
Truncus (as PVR drops)
Managemnet of HLHS
Longterm complications arrythmias protein losing enteropathy cyanosis for AVMs and collatorals plastic bronchitis lymphangectasia
single ventricle - present ok then when PDA closes shock and poor feeding
1st suergery at 4-6 months is GLEN to SVC and PA connection
then FONTAN at 2-4 y to cnnect IVC to RPA
infective carditis
organisms:
duke criteria for diagnosis
exam findings
a hemloytic strep, staph aureus, CONS
exam: splinter hem, janeway (non painful on pal and sole)
osler painful on pulp fingers
roth- exudate edematous retinal hemm
DUKE criteria MAJOR
1) Cultures
- positive bcx x 2 (drawn 12 h apart)
- single positive coxiella burnetti or anti-phase I IgG ab titre>1:800
- all 3 or majority of >4 separate cultures
2) Evidence of endocardial involvement
- positive echo or new regurg (change in murmur not enough)
(minor criteria include: predis heart conditon, fever, vascular change, immunological change, microbio evidence)
need surgery if: vegetation/septic emboli, valvular dysfxn or perivalvular extension
cardiomyopathy
- HCM - sarcomeric protein cause, most common cause of death sudden in child
puverty to adulthood
Restrictive is DESMIN with skeletal myopathy and is AD, assoctaited with GSD lysosomal storage disorders, treatment is transplant
Arrythmmogenic right ventricular cardiomtopahthy (with R ventricule getting fat/fibrous
treatment - beta blocker
no strenous physical activity
if fmhx arrhtymia put ICD
screen all 1st degree relatives ECH and echo 3-5 years <12y and then yearly if older
sudden death if family member is a poor prognosis
what are risk factors for pHTN >25mmHg (normal 8-20)
MAS, pulm hypoplasia, early onset sepsis, hypoglycemia, RDS, polycythemia, matenral NSAID
treatment oxygen intubate inhaled ntiric anticoag CCB phosphodiesterase inhibitor (sildenafil) transplant
differnetial for pulsus paradoxus (change in BP by more hten 10 with inspiration (SBP)
OSA chronic pericarditis cardiac tamponade tension pneumo asthma pregnancy
Rheumatic fever
fidings and secondary treatment to prevent
usually affects mitral THEN aortic valvaes with ECG prolonged PR
severe carditis pred 2 mg/kg, mod 1-2mg+ ASA, mild just ASA
prevention penicillin q3-4w oIM or pen V 250mg po BID
IF carditis - upto 5 y or 21 y, later one
carditis without seequale 10y or 25
carditis with valvular FOREVER, or 40
heart failure by age causes:
first week of life
weeks 2-6w
adolescent
manage: head up, tube feeds, high cal formula, salt restriction, fluid limits
diuretics
aceinhibitor
dopamine to inc contractlity
minimize ONGOING damage with beta blocker
first week its HLHS
severe AS
coarctation
2-6w: VSD, AVSD, PDA (NOT ASD)
adolescemt: DCM, myocarditis, tachycaridas
name six causes of primary amenorrhea (14 without breast development or 16 with breast development)
1) Xm: turner, androgen insensitivity, 5alpha reductase, kallman(LHRH defect, anomsia)
2) anatomic: vaginal septum, imperforate hymen
3) hypothalamic: stress, exercise, ED
4) CNS tumor - prolactinoma, craniopharyngioma
5) ENdo: CAH, thrdoid
OVarian; COS, POF
6) prengnacy
Name 6 causes of secondary amnorrhea - cessation >3mo consectuveively (althou first two years irregular is normal)
inv: ultrasound, FSH, LH prolactin, karyotype, TSH, 17OHP, testosterone DHEAS
If FSH and LH high then ovarian primary issue
If low - hypothalamic
for PCOS LH:FSH ratio is 2:1 wiht low estrogen and high androgens
1) pregnancy
2) hypothyroidism
3) PCOS
4) function hypothyrdoism like BMI exercise, ED
5) prolactinoma
6) late onset CAH
7) Drug - rispierdone (anything tha t increases prolactin)
Traetment - try induce progesterone withdrwal bleed and if it does bleed its due to anovulation
Describe how anovulation works with physiology and H
immature HPO axis, hence estrogen does not suppress FSH, ongoing FSH, prevent LH surge, hence no ovulation and no CL formation which no progesterone to stabilize endometrium.
effects good and bad of estrogen and progesterone
Prevents ovulation, thickens cervical mucus, inhospitable endometrium. blocks sperm penetration
reduces ovarian and endometrial cancer
estrogen good: controls hirutism and acne, cycle control
bad: boob tender, bloating, mood changes, headache, n/v, liver and gallbladder diseaase, inc cervical dysplasia over 5y use
Progesterone good: dec bleeding, prevents ovulation
BAD: acne hirtusism break throgh bleeds
with RAPE
investigations and treatment
inv: cultures for STI, bloodwork for syphillis and HIV
Treatment
1-emergency contraception
2- STI prop: cefixime and azithro
metrondiazole for BV
3- rpt HIV and and hepatitis syphillis at 12 w
4- rpt wet mount, cultures and pregnancy test at 12w
5- psych support
STI- investigation, sx, treatmebt
BV
Trichomonas
Candida
BV-wet mound CLUE cells, fish ph>4.5, grey copious not an STI
tx flagyl test x 7d
Trichomonas - wet mound flagellated protazoa, ph>4.5, frothy and strawberry cervi
tx flagylx1 d
candida, white yeast on wet mount or pseudhyphae - treatment topical or oral fluconazole
differential for red lesion on labia
1 -chancre (syphillis) tropenoma pallidum 2- chancroid 3- herpes 4- trauma 5- HPV
6 A’s of smokiing cessation\
can use patch plus CBT
ask about smoke status advise to quit assess readiness assist with effort arrange fu anticipate risk of use in adolescent
what are side effects of androgen and steroids
some athletes also use GH: causes insulin resistnace, hyperglycemia, DM, Na retention, cardiomegaly, carpal tunner
hepatotosixc, gynecomastia, erythrocystosis, premature fusion of epiphseal, infxn, virilization in women
6 things for adolescent transition u can do
1) see patient alone
2) adol manage their own stuff
3) autonomy and independance
4) peer support
5) transition clinic with adult provders
6) tranistion letter
7) involve family MD
Difference between PROXIMAL (Type 2) RTA and distal - physiology Urine pH lyte abn associated condn
RTA -4 behaves like aldosterone deficeincy or resistance - so hyponat and hyper K
PROXIMAL - failure to reabsorb HC03- (more losses) urine Ph<7
hypoNat, hypoPhos, glucosuria, aminocadiruai/proteinuria, Fanconi (caused by cystonosis, tyrosenimia, galactosemia)
DISTAL- type 1, failure to secrete H, urine ph>7, normal sodium and nephrocalcinosis, hearing loss, caused by obstructive/renal dysplasia, lupus
Proteinuria
Diff btwn nephrotic and nephritic
remember proteinuria predicts CKD progression in children
Nephrotic: proteinuria (>40mg/m2/hour) or 250mg/mmol, edema, hypoalbumin<25, high TG
Nephritic is PHAROH
proteinuria, hematuria, azotemia, RBC cast, oliguria, HTN
Diagnosis of nephrotic - ususally its minimal change
Lab investigations
ABn findings
Treatment
Considered steroid dependant if relapse in taper within 2 weeks or with discontinuiation
Steroid resistant if cannot induce remission within 4 weeks of daily steroids- usually FSGS and 50% need transplant in 5 years
ABN presentation <12mo,>10yo, persistant HTN, impaired renal fxn, hematuria, low c3, positive hepB or C
protein range >40mg/m2/hour edema, high TG
labs: cbcd, lytes, cholesterol, glucose, early morning pr:cr ratiom, urine microscope and C&S, albumin, VZV, Hep B/C and HIV, complement ANA if <2yo
low salt, fluid resitrict, steroids 2mg/kg/d for 6 weeks and then taper, +/- diuretics and albumin
Remission if dipstick negative for 3 days or protein/Cr ratio <20g/L
frequent relapsers are 2 or more within 6 months or more then 4 in 12 months. Need to move to cyclphosmpahde, MMF or cyclo, bx
What are complications of neprhortic syndrome
remember to vaccinate normally except live vaccines need 3 months of pred or CSA, and 6 months of cyclophosphamide
1) SBP with (s pneumo, ecoli, h flu)
2) hypercoagulable state (loss antirhombin and Protein c and S)
3) hyperlipiedemia (takes the longest to crrect)
Differnetial for GROSS hematuria Glomerular: deformed red cells, casts, acanthocyte Interstital: Malignancy Tract-
Glomerular: nephritis (post strep, IgA, HSP) or alport, benign familial hematuria
Interstital: pyelno
Malignanc: wilms
Tract- UTI, stones, FB
post strep glomerulonephritis
order of resolvement of
HTN, Proteinuria, C3, hematuria
first HTN resolves by 2 w
then C3 norma by 6-8w
then proteinuria 4 months
then microscophic hematuria upto 2 years (but mainly gone by 3-6 months)
Differential for low c3
and normal C3
most common cause of MICROScopic hematuria is idiopathic hypercalcuria
Also get it in ALPORT (xlinked, hearing loss collagen d/o, anterior lenticonus-eye)
HSP can cause - REFER if macroscopic hematura, proteinuria or HTN
low c3 lupus psgn shunt nephritis MPGN endocarditis
normal c3
IgA nephropathy
HSP - remember weekly urine for 1 month, then biweeklyx2 month,then monthly x 3 months- total 6 months, 1% will get ERSD. Higher risk of renal disease IF older, perisstant purpura or severe abdo sx
alport anti GBM
Diagnosis of SLE
4/11
MD SOAP BRAIN Malar rash discoird rash Serosistis Oral ulcer Arhtriits Photosensitivity
Blood dyscaria (penia) Renal ANA positive Immune changes (false VRL, anti dsdna, ant sm anti ro Neuro changes
defintiion of HTN and who to treatment
and treatment options
Measure with a cuff on R arm, sit for 3 minutes with arm heart level, should be80-100% of cirucmfrence with width being 40%
treatment:
non pharm wieght reduction, exercise, dec salt, smoke cessation
pharm ACE inbhibtor, NOT beta blocekr
if black try thaizide
if renal artery stenosis CANNOT use ARB or ace inhibitor
DEFINITION 1-13yo: preHTN is<90th or 120/80 Stage 1, >95th+12 or 130-139/80 stage 2: >95+12 or 140/90
13 and above
preHTN 120-129
stage 1 130-139
stage 2 >140/90
Treat: symtpmatic, stage 2, stage 1 if failed 6mo nonpharm, stage 1 with DM or CVD, and preHTN if CKD and DM
post transplant kidney monitor
CMV
EBV
opportunistic infxn
infxn include mycoplasma, cmv, PJP
avoid macrolides as interact with immunosuppresion
ebv look for lymphoproliferative disorders (risk factor if recipient neg and donor positive, thymboglobulin, infxn with CMV) look for HARD node, weight loss and recc pharyngitis
What is considered a simple cyst and when to refer
vs unilateral cyst differnetial includes multcystic dysplastic kidey, but there is no URETER, usually L sided and M?F and the other side hypertrophy (ALSO UPJ and reflux) - malignancy risk <1/1000
rare in peds
less then 1cm, <3 , unilateral and increase slowly if at all
and no echogenic focus
refer if calcifications - septae, loculated or thickened
Prune Belly syndrome TRIAD?
associations?
(renal dysplasias in general assocaited with reflux, PUV and spina bifida)
mesodermal defect, more common in males
abdo muscle defieicny, urinary tract abn (hydronephrosis, dilated ureter and distended bladder) and bilateral cryptochordism
association skeletal clubfoot, dislocated hyips, torticollis, lung hypoplasia and heart rare abnormalities (Potter sequence)
HUS - triad? - investigations - risk factors for dveloping prognosis
triad: MAHA, thrombocytopenia, AKI
inv: coombs, lipase, LDH, G and scren, bili and calcium
RF: age <5yo or >75, vomitting, more then 3 d diarrhea, blood in stool and WBC >13
if fluid resus well in dairhea statges then better prognosis but 30% have renal or neuro sequale
3 week old male referred to you for failure to thrive by the family doctor • Birth weight 3.5kg • Current weight 3.3 kg • Noted to be fussy in the evenings, feeding well but needing tops by bottle after every feed Polyhydramnios identified during the pregnancy • Na 130 • K 2.5 • Chloride 79 • HCO3 34 • Creatinine 25
Bartters
cant reabsorn Na/Cl/K as they are all dwon
like being i=in lasix
polyhdramnios - problem with GI (swallowing and atresias or tubulopathy
if JUST Na and CL were down and presented in adolescent and chldhood with weakness and fatigue and palpitaiton think GITELMAN syndrome as behaves lke a THIAZIDE acting on distal tubule
Causes of Hypernatremia
Hypervolemic (Na excess)
Euvolemic (water deficit)
Hypovalemic (water and Na deficit)
Symptoms - thirst, irritabile, vomit, restless, lethargy, weak, coma
Hypervolemic Hypernatremia
- IV hypernatremic fluid
- excess formula-
- hyperadolesteronism
Euovolemic-
- DI (low ADH)
- increased loss (prem, phototherapy)
- low intake: breastfeeding ineffective, adipsia
Hypovolemic
-GI loss (diarrhea emesis)
Cutaneous loss (burn or sweat)
- renal loss: diuretics, DM, CKD, ATN, postobstructive diuresis)
Causes of hyponatremia
symptoms, nausea, letahrgy, seizure, headache
to correct- Na deficit =
0.6x weight (Goal Na-actual Na)
= Na mmol needed to correct)
remember 10/12mmol in a day and 0.5mmol/h
HYPOVOLEMIC HYPOnatremia
Non renal Una<10 - GI loss, skin loss
Renal cause UNA>20 - salt wasting or hypoaldoesteronism, RTA
Give : saline
EUvolemia:- Na normal, high water
Non renal
Renal UNA>2Na, urine Osm >300
thyroid or glucocoritcoid
HYPERvolemic (++high water/+salt)
Renal: failure
Non renal: cirrhosis and CHF
treatment: fluid and salt restrict
HyperK causes
(remmeber RTA 4 has hyper K)
HypoK causes
Hyper K
decreased excretion: RTA4, hypoaldoesterone, ACE inhibitor
cell exchange: hyperglycemia, cell turnover, acidosis, rhabdo, hemolysis
Hypo K
increased excretioN: RTA1/2, Fanconi, Bartter Gitelman, diuretics and diarrhea, metabolic alkalosis, DKA
Nephrotic syndrome
- proteinuria >40mg/m2/h, ACR>200mg/mmol
- hypoalbuminiemia – causes high TG
- edema
Management
1) fluid restrict, salt <1500mg/day
2) steroids 60mg/m2 x 6 w then taper
3) vaccinate encpauslated (h flu, strep pneumo and meningitis)
4) acute HTN tx with beta blocker/CCB
5) fluid overload, lasix
Types (atypica; <12mo,>12yo, if HTN, high Cr, gross hematuria)
1) Minimal change most common
2) FSGS 1/3 go to renal failure
3) MPGN most likely to go into renal failure, hypocomplement
4) membaranous uncommon, mainly in adoelscents with infection (HEP, syphillis and malaria)
Congenital - rare, 1st 2 mo of life wiht AR mutation npehrin protein and prental onset shows elevated AFP
Causes of proteinuria:
1) transient proteinuria (with fever, cold, does not exceed 1-2+ on disptick
2) orthostatic - do first AM urine sample x3d
Others: glomerular - PSGN, SLE, HUS, mylemoma, rhabdo, tubular : ATN, PCKD
Hematuria causes:
>5 RBC/hpf- highly sensitive dipstick (false positive: oxidingzing agents, bacteria, beets,
1) UTI
2) hypercalciuria (ISOLATED hematuria)
3) benign familial hematuria
hematuria: SHIT stones, sle, structural H hematological, hypercalciruia, sickle, HSP infectious: IgA T-trauma, tumor, TB, toxin
If its glomerulonephritis (BOTH hematuria and proteinuria) - think PGSN, else bx
nephritis - Proteinuria, Hematuria, Azotemia, Oliguria, Red cell casts, HTN
Ddx (normal C3 - IgA nephropathy, antiGBM alports, and low c2 is SLE, PGSN, MPGN, shunt, and endocarditis)
WORKUP: Urine: protein, Cr, calcium, culture, analysis and micropscy
Blood: CBC. lytes, Urea and Cr. Cal albumi, protein ASOT, ANA c3 and C3,
rneal u/s
bx- if neprhotic range proteinruia, renal insufficeincy or fmhx of CKD
with ARF - causes,
lyte abnormalities? K, Ca, phosphate
management
if its CKD - supplement Ca, get phosphate binders (CaC03) and restrict phospahte. need epo
pre RENAL/renal/POSTrenal
dehydration, meds, vascular, DIC. ATN, obstructive
FENA: U/P NA dvideid by U/P Cr
<1% pre renal
HyperK, HypoCa, Hyperphos, acidosis
management
in/out, fluid: insens wiht ongoing loss, lyte, renal dosing, treatment of electyrlytes, dialysis if uremia, hypervolemia unrepsonive or major lyte abn
workup for HTN and organ damage workup
ORGAN echo retinal exam urinalysis for proteinuria and ACR neuro exam for stroke
w/u: u/a lytes BUN cr renal us CBC d and dppler urine catehcolamine, TSH
CVD risk factor lipids, uric acid.
RF for renal vein thrombosis
common form in neonates not assoc with vascular catheter
RF-
prem, asphyxia, dehydration, polycy, CHD, maternal diabietes
present with flank mass, hematuria, low plt
Work up for stones and treatment
idopathic hypercalcuria= AD, sacroidipsis, recurrent gross hematuria with peristant micrscopic hematura with 24h urine Ca>4,g/kg and treat with oral thaizide diurteics
1- urinalysis and microscopy
2- lytes, c02, gas, Ca, Mg, p04, urate, urea, Cr, PTH and VIt D
Urine spt Ca, ur, notroprssode screne
24 hour urine: Ca, oxalate, citrate, urate, cr and volume
4- renal u/s
Management inc fluid intake inc citrate dont limit Ca (unless hyper Ca) limit salt minimize steroids, vit D and excessive steroids
proximal vs distal RTA
think of it when its non anion gap hyperchloremic metabolic acidosis
remember type 4 has hyperkalemia
=with aldoesterone deficeincy
type 2 rta proximal - impaired HC03 reabsorption, PH urne <5.5, caused by Fanconi - caused by cystonosis
present with FTT, vx/dx, polydip,polyuria
IN URINE: glucosuria, proteinuria, amoniacirduria, phosphaturia (measure cystiene levels in the lekocytes that diagnosis cystonosis) - have hypoK,p04, hyperurisua
type1 - rta distal - think impaired H sectetion, Ph urine>5,5, they get stones NEPHROCALCINOSIS
hence have high Ca levels, low citrate levels, provs with primary hyperparahytroidism, vit D intox, can get in SLE too and post obsturctive uropathy
name causes of HYPOnatermic, HYPOchloremic, HYPOkalemic metabolic alkalosis
lasix use
PS
CF
BArter
indications for dialysis
uremia wiht sx severe lyte derangements high ammonia drug- salcicyalte,e thylene glyclol, methaonl, isopronaol, fluid overload
causes of wilms tumor
NOT li fraumeni (AD, leukemia, p54, breash scarcoma and leukemia)
WAGR (wilms, aniridia, gu issues, retard)
Denys Drash, renal sclerosis Wilm tumor
Beckwith Weidemann
Russel silver- 11p15 hypometyliation, ska, triangle face, cafe au laid, cardiac, clindodatyl, fasting hypoglycaemia -also HCC limb asymetrry- short stature
Autosomal dominant inherited disoders
name 5
peutz jegher - hypermelanosis of th lips increase risk of cancers - not super high risk, inc risk of intuss
also OI -hearing loss short stature
Marfan - pectus, ectopic lentis, MVP, aortic root dilatation, scoliosis, NORMAL skin elasticity, thumb sign, wrist sign
Waardenburg syndrome - neural crest cells, get white lock hair, heterochromia irides, hearing loss and hirshsprung
Achondroplasia - OSA, foreman magnum narrowing and brainstem compression, stenotic spinal canal , lordosis, rhizomelic shorten limbs
NF1
Tubrous sclerosis
DCornelia Delange
Rbinstein Taybi - beak nose, broad thumbs, cardiac, mental retard
Noonan (downslanting palpebral , renal , ps, coat issue, pectus, HCM, snhl, gets better with age, crypthochordism, vision issues strabismus and amblyopia
Tuberous sclerosis
Diagnostic criteria: (2 major, or 1 major with 2 minor)
MAJOR criteria:
- facial angiofibroma
- non traumatic ungula or periungual fibroma
- hypopig macules
- shagreen patch
- retinal nodular hamartomas
- cortical tuber
- subependymal nodule
- SGCT
- cardiac rhabdomyoma
- lymphangioleiomyomatosis
- renal angiomyolipoma - can become RCC
MINOR featuers:
- pits in dental enamal
- hemartomatous rectal polyp
- bone cysts
- cerebral whtie matter migration
- gingivial fibromas
- nonrenal hamartoma
- retinal chromic patch
Diff btwn homocystien and marfan
MARFAN - AD, superior ectopic lentis, no hyperoacgulable, tx with Losartan to dec TGF beta (prevent aneurysm)
Homocysteine- AR, hypercoagulable, inferior ectopic lentis
Turner
need referall to endo for GH therpy if height less tehn 3rd centile
at 12yo need referal for estrogen
streak goands
inc risk of hypothyroidism hashimitor, celiac (also dm1 and Down syndrome) and IBD
no increased risk of cancer except pilomatricoma which is benign skin lesion
managemnet ash yearly echo urine yearly and blood glucose for renal Diane diabetes liver enz yealy hearing q3-5y optho exam lh and fish before hormone replace at 12yo psych assessment
Signs and Sx: short stature, short 4th metacarpal, high arch palate, nail dusplasia broad chest low posterior hairline and low set ears sterility, neck webbing rudimentary ovaries - can carry pregnancy with donor egg amennorhea - premature ovarian failure inc weight and obesity Aortic valve stenoisis, coarctation of aorta, bicuspid aortic valve horseshoe kidey visual impairments, glaucoma ear infxn and hearing loss - SNHL ADHD LD MORTALITY DUE TO RUPTURE AORTA WITH PREGN hypothyroidism HTN T1DM, DM2
Monitoring in BWS
MONITOR
inc chance of embryological cancers (wilms, neuroblastoma, rhabdo)
hepatoblastoma AFP q 3 month for first 4 years of life
AUS every 3 months till 8 years old
8- adolescence, check for nephrocaclinosis, medullary sponge kidney disease, consider urine Ca/Cr ratio
CF - manage Clinical presentation: RESP - chronic cough - bronchiectasis - pneumothorax - hemoptsis - pHTN/ heart failure
GI
- protein and fat malabs, loose stools
- FTT
- meconium ileus
- distal intestianl obstruction
- obstructive jaundice
- focal biliary cirrhosis
- rectal prolapse
- recc pancreatitis
UPPER AIRWAY
- chronic pansinusitis
- nasal polyposis
OTHER:
DM1, digital clubbing, dehydration, ADEK def, zinc dermatitis, infertility in males
PULMONARY - antimicrobials, chest physio, hypertonic saline, transplant considered if FEV1<40
PANCREATIC - ADEK vitamins, pancreatic enz pre meal, suppl calories
WATCH GROWTH - and BMI
DIABETES - sclerosis of islet of langerhan
INTESTINE - obstruction, illeusm visceral perforation, give laxatives, can have rectal prolapse
Name 2 X linked dominant disorders
side note- IPS screen is HCG, UE3 and AFP
all low for trisomies, except for down syndrome HCG high
incontinentia pigmenti
RETT syndroime- mainly FEMALES
Uniparental disomy conditions
Prader Willi- rapid growth 1-6yo - test with methylation or fISh studies , with hypothalamic and gh deficiency, good at jigsaw. need optho for myopia, endo for h, respect for sleep,. development for motor and speech
Angelman
BWS
prader willi, paternal imprinting (deleted parenternal Xm 15) - hypotonia, grwoth delay, obesity, hypogonatodroptic ghypogonaidsm, developmetnal delay, alond shaped eyes, small hands and feet, micriopenis and cryptohochrodism
Angelman, no speech and seizures, happy puppet, deletin matenral Xm, mental retard, walking broad based, ataxia, wide space teeth proturde tonge, TEST methylation specific tst
BWS: patenral Xm 11
macrogloassia, omphalocele, hepatomegayl, cardiomegaly, Wilms, hepatoblasoma, neirpblastoma, adrenacotrcicl carcionma, VERTICAl ear creases
Expansion of trinucleotide rpt mutation includes fragile X, what are the rpt and some findings in premutation
Other conditions: Huntington, Freidrecih ataxia, Myotonic dystrophy
CGG rpt in FMR1- >200 affected,
premutation mother has POF and neurocognicitive defects or males have fargile X tremor axtaxia syndrome
pt has large head, mitrl propalpse, large ears, flat feet, MACRO orchidism, mild CTD, ASD, PDD, NO regression of milestones
MATCH these with upslanting or downslanting or narrow palpebral fissures
T21, prader willy Marfan FAS William Difeorge Sotos Lennox Gatuaut\ Ehler dan
UPSLANT- t21 and prader willi
DOWNSANT - think CTD- marfan, EHS, Sotos (pda, and, kidney, cerebral gigantism,overgrwoth) lennox gestaut, cri du chat (5p deletion), Noonan
SHORT - FAS, Wililam and Digeorge
side note XXY (klinfelter- most common cause of hypognadism and infertlity in men) present at puberty gynecomastia, inc risk of rbeast and medistinal tumor. small testis, normal TESTOSTERONE, osteopenia, low ingeliggence, inc risk of psych issues
Fetal efects of maternal drugs:
1) tobacco
2) cocaine
3) matenral insulin
4) phenytoin
5) alcohol
1) tobacco- placental abruption, PROM, placenta previa, PTL, LBW, increased mortaliy, SID
2) cocaine - hyperjittery baby (not withdrawal) inc suck, high pitch cry
3) maternal insulin causes caudal/sacral agenesis
4) phenytoin: fetal hydantoid syndrome (cleft lip, CHD, hypoplastic digits)
5) alcohol - FAS - short papebral fissures, smooth filtrum, thin upper lip, upturn nose, railroad ears
what is the most common trisomy 16 21 13 18
16 - causes SA but most common
if alive its 21 - sandal gap toe, upslanting palpebral fissure, single palmar crease, flat nasal bridge, epicahtnal folds, brush feild spot, AVSD, DA, annular pancrease, imperforate anus, hypothyrodisims, inc ALL, alzeiheimer
Management t21
birth - eye exam, hearing tst, echo TSH and CBC
1-5yo watch for OM, eye, TSH anually, xray if symptoms
5-13yo hearing and vision annually, TSH, OSA
High risk ALL stratification name 5 things
age <1, >10 wbc >50 000 hypoploidy cns positive disease mrd
William syndrome
7p deletion
perfect pitch and musical abilities
chd suprvalvular ps and as elf facies fullness of lip blue irises friendly and social moderate mental retard dd hypercalcemia in neonate and nephrocalcinosis hen hypothyroid hyperacusis adhd
what does CHARGE AND VACTERL stand for
think CHARGE is heart and above (no renal stuff)
coloboma, heart effect, atresia choanael, retarded, genital, ear
vacterl
vertebrae , anus imperforate, cardiac, tef, renal, limb
AR disorders
smith lemli optiz -cholesterol metabolism issue 7DHC
short stature, microcephalic, mod/severe disability, syndactyl of 2-3 toes, geniterlalie may be ambiguas in male
dmd - x linked recessive
diagnose dystrophin gene via molecular testing eledvated ck oust 2-5yo weak, calf hypertrophy, intellcular challenge monitor for dcm ciao echo q2y resp oft and nocturnal hypoventilation, ortho for scoliosis bmd testing
causes of snhl
- hypertrophy of nerve bundles and absence of ganglion cells
- absence of anal spinhciter relaxation
causes hirshsprung
Down syndrome, Waardenburg, Haddad syndrome (phox2b central hypoventilation, waardenberg, CHH, smith lemli optiz
cmv waardenberg - also synophyrns and hirshcpsring turner down syndrome haddad syndrome
ehler danloe
smooth velvet skin, skin hyperedtendible, jt hyper mobile, hernia anal propels dna sequence col5a1, AD
mullusoid pseudtumor which is violacious subcutaneous mass over pressure points
random conditions to know
mccune albright
abetalipoporteiniema
bardat biedel
mccune albright: cafe au lait, fibrous dysplasia and endocrine- hyperthyroidism and hyperpara, and cushion and precocious puberty, hyperprolactin
bardat biedel - truncal obesity infancy with vision loss due to rod cone dystrophy, post axial polydactyl, gu and renal abs
abetalipproteinemia is dietary fat absorption issue and ADEK, AR with low ldl levels and steatorrhea fat euro issues and acanthocytosis, retinits pigments
male puberty
leydig from LH - testosterone make pubes and penile growth
FSH to sertoli - go to seminiferous tubules and make testicular growth
age 9-14
females gnrh pulse lh and ash go to granulose cell and estrogen and and=rigen made which causes breast development uterine grwoth and pubic hair
ages 8-13
pubarche or adrenarch is driven by the secretion of androgens by the adrenals and that gets pubic hair and acne from here - boobs pubes grow flow
- get boobs then 2 y later get menarche
the HPG axis - to gonads for females get breast development and menarhc
for males get penile size and testis enlargement
order for males is testis then pubic hair
precocious puberty in males -alway pathological CENTRAL - HPG driven if central - all males get an MRI as hypothalamic hematoma (with gelastic seizures) - causes LH/FSH to go up
FOR GIRLS IF Under 6 yo then MRI
other causes include any Cns cause
cysts trauma meningitis cerebral malformatins
primary hypothyroidism
peripheral precocious puberty- doesn’t follow expected path of puberty
ie - for male testis is not the first thing to get large
3 sources - testosterone and estrogen - this feeds back to DECREASE LH/FSH
1- exogenous sex hormones
2- gonads
3- ectopic from Germ cell tumor
pulse oximtery
R hand and either foot 24-36 hours
a pass is >95% with less then 3% diff
Whats a fail?
<90 rpt x3 with an hour in btwn
or 90-94 with >3% diff, rpt x 3 with an hour in btwn
if fail do ecg, xray and 4 limb BP
difficult for coarct- ensure femoral pulses checked
HSP diagnosis
small vessel IgA vasculitis
normal or HIGH platelet mild anemia, WBC elevated low albumin elevated markers Cr may be higher elevated IgA
purpura +2/3 of arhritis, abdo pain and renal disease
ttreatment with NSAID and suppprotve - steroids only if GI or severe renal disease and taper slowly
recur 30% in first 2 months. no permanent damage from arthritis
check urine and BP -q1week x 1 month, q2 weeks x 2 months, an monthly for 3 months -ERSD 1-2%
KD poor prognostics
medium size
HOT CREAM - diagnosis 4/5 CREAM criteria
conjuncvititis rash - extremity changes Adenopathy- unilateral - cervical LAD >1.5cm mm changes strawberry tonge
other manifestation - hydrops of gallbladder, aseptic meningitis, urethretis, anterior uveitis, SNHL
cardiac manfiestation, do at time and rpt 6-8w
Mg’t - 2g/kg IVIG, low dose ASA (3-5mg/kg/d)
poor prognosis-age <1yr, >9yr, male, hypoalbuminemia, low plt, prominant inflm markers, duration of fever long
3 layers of vascular wall destructing internal elastic lamina (weakens vessels) Iga plasma cells go in , can form thrombi
3 phase- acute (fever and perineal desquam)
subacute - plt elevation and desquamation, high risk of sudden death - lasts 2 w
then convaslecnt till ESR down (2 months)
investigations: neutrophilia, anemia, thrombocytosis, low albumin, transminitis, hyponatremia, sterile pyuria, pleocytosis of CSF
Diagnosis of JIA (F>M)
mono - 1-4 within 6 mo
poly>5 within 6 mo
systemic M=F +1/4 - bioligic for il1/6 (anakinra, tocilizumab)
entethesis M>F +2/5
psoriatic +1/3
INV: cbc, esr, crp, RF, ANA, PPD, aspirate jt
RF for uveitis :younger age, girls , positive ANA, oligo (HLA DR5/6/8)
general: RF+, systemic, poor therapy response, erosions on xray
tx- NSAID, jt injection, then DMARD (MTX) then biologics TNFalpha blocker infliximab or etanercept
complications - synechiae, leg length discrep, atrophy, contractures, psychosocial, MAS (cytopenia, high ferritin , low fibronogen and LOW esr, high TG, high CD25)
with tx - mtx (monitor CBC and lfts q 3 mo) and no live vaccine, no septra, no preg
with anti tnf - get tb reactviation, do cxr and tv, pancytopenia, MS like sx
must be<16yo, with arthritis x6weeks
mono < or equal to 4 jt involvements within first 6 months of disease (uveitis RF-female- traet with NSAID)
poly (RF NEG more common) >5 in 1st 6 mo of diagnosis, RF positive tend to be adolescent with wrost prognosis
systemic: min 2 week fever with 3 days consecutive with 1 or more of: HSM, rash (evanescent, salmon), serositis and LAD
entethesitis (arthritis or entethesitis) with 2 of: HLA b27, sacroilliac tender, age M>6, sx ant uveitis, 1st degree relative with anklyosing, entehsis,s acro, ibd, reiter,)
psoriasis - psoriasis and arthritis and 2 of: dactylitis, nail pit, 1st deg relative of psoriasis) - usu arthritis is first
uveitis monitoring
if <6 and positive ANA with <4years of disease then 3 months, but >7 years then q12 month
basically - q3-12 month based on age, ANA status and disease duration
lyme disease
bug
early and late manifestations
treatment
if just erythema migran - (3-30d) then doxy>10yo or amox if <10 x 2 weeks.
Ceftriaxone if any disseminated findings or late findings
borrelia burgdorferi screen with ELISA - and confirm wtih western blot - also PCR
early: uveitis, carditis, facial nerve palsy CN7, lymphositic meningitis, arthralgia, heart block
late - arthritis, enecephalomyelitis (chronic), acrodermatitis chronica
rheumatic fever diagnostic criteria
JONES CAFE PAL
need 2 + 1 (major and minor or vise versa) + ASOT or positive culture
Joints (migratory polyarthritis) O - pancarditis N - subcut nodules E- erythemaga marginatum - serpigneous rash S - syndeham
Minor- cafe PAL
crp, arthralgia, fever, esr
pr interval, anemesis of rhemaism, leuko
treatiwht 10 days pen
need prop pen for 5 years or 21 years old - whatevr is later
if carditis - life long treatment with prop
hip pain
2-6 yo transient M?F
4-10yo leg vave perhtes AVN- diagnose MRI, bone scan ina cute stage
10-14 SCFE (does not casue AVN itself, only pinning does) - external rotation with hip flexion
diagnosis of SLE - MDSOAP BRAIN 4/11
malar rash/discoid rash/serositis/Oral ulcer painless/Arhtirtis/Photo sens
Blood - leukopenia and anemia and thrombocytopenia
R-renal disease - protenuria
ANA positive
Immune - anti dsDNA, anti Sm, FALSE positive RPR-
dt antiphospholipid ab, positive lupus coagulant
Neuro - range, enecophalitis, CVST, chorea
can also have low c3/c4 with activei disease
monitor ESR for disease
CRP is NORMAL - if high infxn or serositis/pericarditis
tx- NSAID and hydroxychloroquine (see optho q6 mon), low dose pred
if sever then high dose steroids - immunosupp (MMF), rituximab), cyclophosphamide for renal disease
med side effects
drug induced lupus - minocycline, phenytoin,
MTX - liver and cbc q 6 months
hydroxychlorquine (plaquinil) eye exam q6 mo for color blindness and retinal toxicity
tacro - liver and kidney , hyper K, hypoMg
cyclosporine- high blood pressure, headache, kidney problems, increased hair growth, and vomiting.
cyclophosphamide - skin hyperpig, hemmorhagic cystitis, BM suppresion, vomitting, alocpecia
Charactersitics of neonatal lupus
antiphospholipid antibody syndrome - TRIAD
recurr miscarriage, thrombocytopenia and thombosis
(+/- hemolytic anemia) can hve long PTT
anticardiolipin antibody and assoc with lupus
anti ro and anti la ab skin - discoid rash brain -hydrocephalus heart block - hepatitis panyctopenia, stippling og epiphysis
Diagnosis of JDM
NOT assocaited with cancer
3D’s dysphonia, dysphagia, dyspnea
can get calcinosis
usually do MRI
Treatment- avoid sun, MTX, steroids, Ca Vit D
IVIG adjunct if weakness severe
classic rash (heliotropic or gottron) + 3/4
weakness, symetric and proximal
muscle enz elevation CK AST LDH aldolase
EMG change of fibrillation and sharp wave
muscle bx - necrosis and inflammation
ask about difficulty getting out of chair, climbing stairs, brushing hair, positive gower sign
complications
if nail fold disease persist - may take longer to remit
DM2 - due to lipodystrophy
contractures, calcinosis, s/e of steroids
granulomatosis with polyangiitis
GPA
this is small vesssle disease
C- ANCA
necrotizing granulomatous
treat with steroids, Cyclophosphamide, imuran, retux MTX
saddle deform nose, sinusitis and nasal ulcers, EPISTAXIS, with infiltrates in lung and pauci immune GN
CONSITITUTIONAl sx, and eye inflm (episcleritis), vasculitis rash
MPA (microscopic) is similar with less SINUS but P ANCA is positive instead
churg staruss is allergic small vessel necrotizing granulomas hx of refractory asthma and periphera Eo
Diagnosis of periodic fever
PFAPA - 3-5yo, 3-6 weeks MAX 5 days, resolve with steroid x1, T+A, anakinra (IL1)
FMF: <5yo, 1-4d plsu (arthritis, peritonitis, pleuritis) with erisipelas rash, hypothy, amyloidoisis- colchicine daily, anakinra, can cause hearing loss (in jew, turkey, free) for pyrin protein
recurrent UNEXPLAINEd at least 3x/6 months, associated with at leaast a week of being well in btwn with NORMAL growth
HIDS (hyer IGD) in babes<6mo, with 3-7 d fever and diarrhea with ulcers, rash, flare at Bday, holiday and vacation and have mental retard, cataract and FTT with INC mevaolnate (DIAGNOSIS)
TRAPS - AD, first decade fever 3d upto weeks, wioth nausea, diarrhea, myalgia, rash migrating distally, treat with NSAID or etanercept (TNF against)
CAPS - cryopryin like NLRp3 assocaited early infancy usually resolve 24 hours, hands knees and ankles
You see a biopsy with non caseating epithelioid granulomatous lesions - whats teh diagnosis
sarcoid - children<4 for early onset triad rash, arthritis and uveitis
bilateral hilar lymphadenopathy
differential for uveitis
IBD SLE JIA CMV/HSV bartonella - unilateral syphillis TB sarcoidosis
differential for erythema multiforme
mycoplasma ebv cmv NSAID sulfonamide hsv HIV IBD SARCOID
Position plagiocephaly
RF and management
side note KOCHER criteria - 1) fever, no weight bear, WBC>12, ESR >40
septic athrits treat abxx21 d with ANCEF, may add clinda vnaco if MRSA
worst at 4 month then resolve by 2 y
rf: male, bottle feed, congenital torticollis, no tummy time, supine sleeping, first born
management: tummy time 3x/d x15min, altenrate sleep position to prevent
helmet moulding on max age 8 months
indications for surgery for scoliosis
common is r thoracic and l lumbar, PA view
IF ITS L thoracic - need MRI
some findigns include elevation of shoulder, lateral trunk shift, apparent leg length discrepency
test via ADAM forward bend and ribs are prominent on convex side as vertebral bodies go in that direction
if its congenital MUST DO RENAL U/S to rule out renal ageneiss, horse shoe kidney, genital abnormalities
indications for surgery prepub and cob>45 post pubert and cob >50 progressing despite brace >5 on cob angle cosmesis unacceptale or affecting QOL
complications of sugery- blood loss, SMA syndrome, infection, neurological injurty, pseudoarthrosis (fialure of fusion
bracing for >30 (ineffecitve at more then 45)
observe if less then 20
name four causes for congenital scoliosis and acquired scoliosis
congenital - tumor of sternocleidomastoid, branchial cleft cyst, clavicle fracture, hemivretebrae, posterior fossa tumor
acquired - infxn - rpa, tb, lemierre ……cancer posterior fossa tumor…s04 palsy, clavicle fracture,, ligamentous injury, polio, wilsons, myesthenia gravis
diagnosis with athlete pain on back extension
versus
flexion
management
remember young ppl at risk due to
1- incomplete ossification of pars interarticularis inc risk of injury
2- growth rapid which can lead to poor techniqe
3- over training
extension -
spondylolysis - seperate of pars interarticularis - pain on extension, hamstring tightness, and paraspinal muscle spasm
(if vertebra anterior slips as well then called spondylolitsthesis)
mg’t, physio, rest, 2 month rest with brace, 6 month without
posterior element overuse syndrome
same presentation and investigations negative
treatment is physio rest with or without brace and better by 2 months
flexion
disc herniation - rare in child - surgery if cauda quina, neuro sx, or refractor pain and also positive leg test is diagnostic
vertebral avlusion fracture - displacement and 3 of disk into spinal canal and xrays show it - ct imaging choice and excise fragment if neuro signs
takes 3-6mo
SCFE @ hypertrophic zone of physis - limp external rotation abduction of hip
limp- PAIN IN KNEE/thigh
diagnosis L more then R
RF-hypothyroid, hypoparathyroid, renal osteodystropohy, obesity
investigations
management - pin it, mild<30, severe>60deg,
stable if child can walk with or without crutches. monitor with serial xray to ensure stable and physis closing
prognostics/complications
- AVN
- chondrolysis
- femoroactebular impingement
distinguish from salter harris1
slipped capital femoral epiphysis
- 11-16 yo obese black, can be acute/acute-chronic/chronic
- acute - <3w with groin/knee pain with maybe minor injury , distinguish from salter-harris1-high risk AVN
- chronic most common
- inv: BOTH HIPS-xray ap and lateral frog leg - draw klein line from femoral neck should hit the epiphysis. shows post migration of femoral epiphysis and remodel of neck with upper femur bending neck, wide irregular physis
- younger child <10yo look at endocrine abn - thyroid pit, GH, hypogonadism
