Step 2 Peds.txt

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Step 2 Peds.txt
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Step 2 Peds
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  1. What peds fxrs can indicate abuse
    • Spiral Fxrs
    • bucket fxrs
    • post. rib fxrs
  2. Drugs that cause congenital heart defects
    • phenytoin
    • alcohol
    • lithium
    • thalidomide
  3. Non cyanotic heart dz
    • ASD
    • VSD
    • PDA
  4. Cyanotic heart dz
    • RtLft shunt
    • "12345"

    • Truncus arterioss
    • Transposition of great vessels
    • Tricuspid atresia
    • Tetralogy of fallot
    • Total Anomalous Pulmonay Venus Return
  5. MC congenital heart defect
    VSD
  6. VSD is assoc with what syndromes
    • Apert's Syndrome
    • cranial deformity
    • fusion of fingers/toes

    • Down's
    • Fetal Alcohol Syndrome
    • TORCHES
    • Cri du Chat
    • Trisomies 13, 18
  7. VSD Murmur
    Dx with...
    CXR findings
    • harsh holosystolic murmer
    • L sternal border

    Dx with Echo

    • CXR: poss LVH w/ small defects
    • LVH+RVH w/ larger defects
    • pulm vascular markings
  8. VSD Tx
    small defects close spontaneously

    • Surgery if:
    • pts fail medical management
    • pts <1yo + pulm HTN
    • older kids w/ large VSD that hasnt shrunk
  9. ASD assoc'd syndromes
    • Holt-Oram Syndrome
    • absent radii
    • ASD
    • 1st deg heart block

    • FAS
    • Downs
  10. Ostium Primum and secundum
    which is most common
    Age of "presentation"
    • 1: si/sx in early childhood
    • 2: si/sx in late chldhood, or early adulthood

    2 is most common
  11. ASD murmur
    • RT ventricular heave
    • Systolic Ejection murmur
    • Upper Left Sternal border
    • **Wide and Fixed, Split S2**

    may also have mid-diastolic rumble at left lower sternal border
  12. ASD Dx

    EKG findings
    CXR findings
    • Echo: shows blood flow btwn atria
    • EKG: R axis deviation and RVH, PR prolongation is common
    • CXR: cardiomegaly  pulm vascular markings
  13. ASD Tx
    most are small and resolve spontaneously

    • Surgery:
    • infants w/ CHF
    • >2:1 pulmonary to systemic blood flow
  14. Eisenmenger's syndrome
    • L-to-R shunt --> Pulm HTN
    • Pulm HTN--> shunt reversal
  15. PDA risk factors
    Si/Sx
    • 1st trimester Rubella infxn
    • prematurity
    • female

    • Usually no symptoms
    • Large defects:
    • FTT
    • recurrent lower RI's
    • Lower extremity clubbing
    • CHF
  16. PDA PE findings
    • Wide Pulse Pressure
    • continuous "machinary murmur"
    • 2nd L IC space at sternal border
    • loud S2
    • bounding Periph pulses
  17. PDA Dx
    EKG/CXR findings
    Tx
    Dx: Color flow doppler

    • EKG: poss LVH
    • CXR: poss cardiomegaly w/ large lesions

    • Tx: Indomethacin
    • CI: cyanotic heard dz
  18. Ebsteins anomaly
    • Tricuspid Valve displacement into Right Vent
    • **associated with mom taking LITHIUM**
  19. When does PDA need Sx
    child >6-8 yo and indomethacin fails
  20. Conditions assoc w/ Coarctation of Aorta
    • Bicuspid aortic valve (2/3 of patients)
    • Turner's
    • Berry Aneurysms
    • males
  21. Si/Sx of Coarctation
    • SBP upper extremities > lower
    • Different BP in L and R arm
    • **Differential Cyanosis
    • Weak femoral pulses
    • Childhood HTN
    • LE claudication
    • syncope
    • epistaxis
    • HA
  22. Coarctation murmur
    • short systolic murmur
    • in left axilla
    • forceful apical impulse
  23. Coarctation of Aorta
    Dx
    CXR:
    ECG:
    • Dx with Echo and color flow doppler
    • CXR: cardiomegaly and pulm congestion
    • ECG: "3" sign d/t pre/post ductal dilation, rib notching
  24. Coarctation Tx
    • Severe coarctation needs PDA kept open with...
    • PGE1
    • Surgery or balloon angioplasty
    • Monitor for:
    • restenosis
    • aneurysm
    • aortic dissection
  25. MC cyanotic congenital heart lesion in the newborn
    Transposition GV (per 1st Aid)
  26. Transposition of GV PE
    • Tachypnea
    • progressive hypoxemia
    • extreme cyanosis
    • Poss signs of CHF
    • Single loud S2
  27. Transposition GV
    Dx:
    CXR findings:
    • Dx: Echo
    • CXR: narrow base heart, no main pulm artery segment
    • "egg-shaped "
    • pulm vascular markings
  28. Trans. GV Tx
    • IV PGE1 to keep PDA open
    • Balloon atrial septostomy to creat/enlarge ASD if PGE1 fails
  29. Tetralogy of Fallot
    consists of:
    • "PROV"
    • Pulmonary stenosis
    • RVH (R vent. outflow obstruction)
    • Overriding arota
    • VSE

    **MC cyanotic congenital heard dz in children**
  30. Tetralogy of Fallot
    Si/Sx
    • No cyanosis at birth
    • develops over 1st 2 yrs
    • degree of cyanosis reflects extent of pulm stenosis

    • Infants often no si/sx 'til 4-6 mos
    • 4-6 mos when CHF poss and manifests as sweating w/ feeding or tachypnea
    • Hypoxemia may FTT
    • "Tet spells"
  31. Tet. of Fallot
    murmur:
    Dx:
    CXR:
    EKG:
    • Murmur: syst. ejection @ L upper sternal border
    • R vent heave, single S2

    • CXR: boot shaped heart, v pulm vasc markings
    • EKG: R-axis dev and RVH
  32. Tet of Fallot Tx
    • if severe pulm stenosis: immediate PGE1
    • tet spells:
    • Morphine
    • O2
    • Phenylephrine
    • propanolol
    • squatting
    • "tx tet spills w/ MOPPS"
  33. Down's Syndrome
    PE:
    Associations:
    Malignancy association:
    MR, flat facial profile, Prominent epicanthal folds, simian crease

    • Assoc: maternal age, duodenal atresia, Hirschsprung's,
    • endocardial cushion (ASD, VSD, Mitral/Triscuspid valve abnormalities)

    Malignancy: ALL

    Other: hypothyroidism, early Alzheimer's
  34. Edward's Syndrome
    • Trisomy 18
    • Rocker-bottom feet
    • Micrognathia
    • prominent occiput
    • May have horse-shoe kidney

    Death usually w/in 1yr of birth
  35. Trisomy 13
    Eponyms & characteristics
    • Patau's Syndrome:
    • Severe MR
    • micropththalmia
    • microcephaly
    • cleft lip/palate
    • scalp lesions
    • polydactyly
    • Congenital Heart Dz
  36. Klinefelter's:
    Chromosome and MCC of...
    characteristics
    • 45, XXY
    • + inactivated X chromo (Barr body)
    • MCC of hypogonadism in males

    • PE:
    • testicular atrophy
    • eunuchoid body, tall
    • long extremities
    • gynecomastia
  37. Klinefelter's Tx
    testosterone
  38. Turner's
    Chromosome
    MCC of...
    Features
    • 45, XO no barr body
    • MCC of 1 anenorrhea d/t gonadal dysgenesis

    • Features:
    • Short stature
    • Shield chest, wide spaced nipples
    • webbed neck
    • coarctation of aorta
    • +/- bicuspid AV
    • poss lymphedema of hands/feet in neonates
    • horseshoe kidney
  39. 47, XYY
    Features
    • Double Y males
    • ^ freq among inmates
    • Tall w/ bad acne
    • Antisocial behavior
  40. PKU
    deficiency in ?
    Features
    • hydroxylase or
    • tetrahydrobipterin cofactor

    • Features:
    • MR
    • fair skin, blond, blue eyes
    • eczema
    • mousy/musty urine
  41. PKU Test & Tx
    Guthrie Test

    • change diet by:
    • dec phenylalanine
    • inc tyrosine
  42. Fragile X
    Genetic abnormality
    Features
    • X-linked defect:
    • affects methylation and expression of FMR1 gene
    • *a triplet repeat disorder, may show anticipation

    • Features:
    • MR
    • big nuts
    • long face/large jaw
    • large everted ears
    • autism
  43. CF
    Inheritance
    What's wrong?
    AR

    • mutations in CFTR (chloride channel)
    • Chromosome 7
    • widespread exocrine gland dysfxn
  44. CF Pulm features
    50% pts present w FTT or chronic pulm dz

    • recurrent pulm infxns (esp w/ Psuedo and S. areus)
    • cyanosis
    • digital clubbing
    • cough, dyspnea, bronchiectasis, hemoptysis
    • chronic sinusitis
    • rhonchi, rales
    • hyperresonance percussion
    • nasal polyposis
  45. CF GI features
    15% w/ meconium ileus

    greasy stools/farts

    • pancreatitis
    • rectal prolapse
    • biliary cirrhosis, jaundice
    • esophageal varices
    • ADEK vit deficiency
  46. CF Dx and Tx
    • Sweat Chloride test:
    • >60mEq/L for pts <20 yo
    • >80 in adults

    DNA probe test

    • Pulm Tx: chest PT, bronchodilators, steroids, Abx, DNase
    • GI Tx: pancreatic enzymes, ADEK vits
    • Lung/Pancreas transplants
  47. Fabry's Dz
    Inheritance
    Deficiency
    Features
    • XR
    • def of alpha-galactosidase A
    • build up of ceramide trihexoside in heart, brain, kidneys

    Renal Failure, ^ risk of stroke, MI
  48. Krabbe's Dz:
    Inheritance, Deficiency, Features
    • AR
    • galactosylceramidase deficiency
    • galactocerebroside in brain

    Optic atrophy, spasticity, early death
  49. Gaucher's Dz
    Inheritance, Deficiency, Features
    • AR
    • def of glucocerebrosidase
    • Build up of clucocerebroside in brain, liver, spleen, marrow
    • Marrow has 'gaucher cells' w/ "crinkled paper" enlarged cytoplasm

    Hepatosplenomegaly, anemia, thrombocytopenia
  50. Niemann-Pick Dz
    Inheritance, Deficiency, Features
    • AR
    • def of sphingomyelinase
    • build up of sphingomyelin in reticuloendothelial and parenchymal cells/tissues

    pts w/ Type A die by 3yrs of age
  51. Tay-Sachs Dz
    Deficiency, Features
    • no hexosaminidase
    • build up of GM2 ganglioside

    • Babies initially normal, 3-6 mos weakness begins, development slow/regresses
    • ^startle response, death by 3yrs
    • Cherry-red macula
  52. Metachromic Leukodystrophy
    Inheritance, Deficiency, Features
    • AR
    • def. of arylsulfatase A
    • build up of sulfatide in brain, liver, kidney, periph nerves
  53. Hurler's
    Inheritance, Deficiency, Features
    • AR
    • def of alph-L-iduronidase

    Corneal clouding, MR, gargoyl facies
  54. Hunter's
    Inheritance, Deficiency, Features
    • XR
    • def ofiduronate sulfatase

    • Mild form of Hurler's
    • no corneal clouding, mild MR
  55. Intussusception
    Features
    • MCC of bowel obst. in first 2 yrs of life
    • Triad: abd pain, vomiting, blood PR

    • Sudden onset, colicky abd pain
    • w/ flexed knees and vomiting
    • late signs: currant jelly stools
    • "sausage" RUQ mass
  56. Intussesception
    Dx and Tx
    US may show "target sign"

    • Air-Contrast Barium enema, both diagnostic and therapeutic
    • Surgery if enema doesn't work, or +peritoneal signs
  57. Pyloric Stenosis characteristics
    • sphincter hypertrophy --> obstruction
    • Nonbilious emesis ~3wks old and progresses to projectile

    babies eat well at first, then malnutritioned

    palpable olive-shaped, mobile, nontender epigstric mass

    visible gastric peristaltic waves
  58. classic metabolic abnormality
    hypochloremic, hypokalemic metabolic alkalosis

    d/t emesis of HCl
  59. Dx & Tx of Pyloric Stenosis
    Abd US (imaging of choice): shows hypertrophic pylorus

    Barium studies: narrow pyloric channel= "string sing", or pyloric beak

    • Tx: correct dehydration, acid/base, 'lytes
    • surgery: pyloromyotomy
  60. Meckel's Divertic
    pathophys...
    pesentation...
    failure of omphalomesenteric or vitelline duct to obliterate

    MC congenital abnormality of small intestine

    • Usually asymptomatic
    • Classically painless rectal bleeding
    • Abd pain=possible complication:
    • 'ticulitis, vovulus, intussusception
  61. Meckle's rule of 2s
    • MC in kids <2
    • 2x more common in males
    • has 2 types of tissue (pancreatic and gastric)
    • 2 in. long
    • W/in 2 ft of ileocecl valve
    • occurs in 2% of population
  62. Meckel's Dx and Tx
    • Scintigraphy scan: Technetium 99m pertechnetate
    • Plain films: limited value, may dx obst. or perf

    • Tx:
    • active bleeding- excision
    • asymptomatic- poss excision
  63. Hirschsprung's Dz
    pathophys...
    associations...
    • no ganlion cells in distal colon
    • ncoordinated peristalsis and dec mobility

    • Assoc:
    • males
    • down's
    • Waardenburg's
    • MEN 2
  64. Hirschsprung's:
    presentation...
    Dx & Tx...
    • neonate failure to pass meconium w/in 48hrs of birth
    • +bilious vomiting, +FTT

    Kids w/ less severe lesions have chronic constipation

    • Dx: barium enema=study of choice, shows narrow distal colon w/ prox dilation
    • anorectal manometry detects failure of rectal relaxation
    • Full-thickness biopsy confirms Dx

    Tx: Sx 1)diverting colostomy 2)connecting colon to rectum
  65. Malrotation w/ Volvulus
    pathphys...
    • congenital malrotation of midgut
    • abnorm. positioning of small intestine
    • (cecum in R hypochondrium)
    • formation of fibrous bands (Ladd's bands) --> obstruction and constricted blood flow
  66. Malrotation w/ Volvulus
    presentation...
    Dx & Tx...
    newborn w/ bilious emesis, crampy abd pain, distention, blood or mucus in stool

    • AXR: may show no intestinal gas, may be norm
    • Upper GI: study of choice, shows abnormal location of Treitz

    Tx: NG tube, IVF, Sx repair (emergent when volvulus present)
  67. What is Necrotizing Enterocolitis (NEC)
    presentation...
    • partial bowel necrosis
    • MC GI emergency in neonates
    • Common in premies, but also in fullterm

    • first: feeding intolerance, delayed gastric emptying, abd distention, bloody stools
    • then: perf, peritonitis, abd erythema, shock
  68. NEC Dx and Tx
    • Nonspecific labs:
    • hypoNa, metab. acidosis
    • leuko penia/cytosis w/ L shift
    • Thrombocytopenia
    • Coagulopathy

    • Abd plain films: pneumatosis intestinalis (pathognomonic), poss dilated bowel loops, portal venous gas, free air
    • serial fims q 6hrs

    • Tx:NPO, Orogastric Tube, IVF & 'lytes, TPN, Abx
    • Surgery: ileostomy w/ mucus fistula for perf, or worsening films
  69. What are the B-cell deficiencies
    • Bruton's
    • CVID
    • IgA Deficiency
  70. Bruton's
    • X-linked agammaglobulinemia
    • boys only

    • ^^infxns w/ encapsulated bact:
    • Pseudomonas
    • H. Influ
    • S. Pneumo

    show up ~6mos when mom Ab's wear off
  71. Bruton's
    Dx & Tx
    • Quant Ig levels
    • if low quant levels, confirm B- and T- cell subsets
    • (so B's will be absent, T's high)

    Absent tonsils and other lymphoid tissue

    Tx: prophylactic Abx, IVIG
  72. Common Variable Immunodef.
    infxn...
    Dx and Tx
    • Usu a combo of B- and T- cell defect
    • Ig levels in the 20s/30s

    • ^pyogenic U/L resp infxns
    • ^risk of lymphoma and autoimmune dz

    • Dx: Quant Ig levels, confirm w/ B/T subsets
    • Tx: IVIG
  73. IgA Deficiency
    Dx and Tx
    • mild, MC immunodeficiency
    • usually asymptomatic

    poss recurrent pulm/GI infxns

    • Dx: Quant IgA levels
    • Tx: treat infxns
    • *don't give Ig's can lead to Anti-IgA Ab's and eventual anaphylactic shock*
  74. DiGeorge Syndrome
    Thymic aplasia

    • CATCH 22:
    • Cardiac abnormalities
    • Abnormal facies
    • Thymic Aplasia
    • Cleft palate
    • Hypocalcemia
    • 22q11 deletion
  75. DiGeorge presentation
    Dx and Tx
    • Tetany (d/t hypoCa++) in newborns
    • infxn with fungi and PJP

    • Dx: absolute lymphocyte count, mitogen stimulation test, delayed hypersensitivity skin test
    • Tx: bone marrow transplant + IVIG, PJP prophylaxis
    • Thymus transplant is alternative
  76. Ataxia-telangiectasia
    risk of...
    Tx...
    • Oculocutaneous telangiectasias
    • progressive cerebellar ataxia
    • DNA repair defect

    ^NH lymphoma, leukemia, and gastric CA

    No specific Tx, poss IVIG if severe Ig deficiency
  77. SCID
    severe combined immunodeficiency

    presentation...
    Tx...
    Severe lack of B & T cells

    severe, freq bact. infxns, chronic candidiasis and opportunistic organisms

    Tx: bone marrow or stem cell transplant, IVIG, PJP prophylaxis
  78. Wiskott-Aldrich
    presentation...
    Tx...
    • X-linked
    • less severe B/T dysfxn

    • Classic si/sx: bleeding, eczema, freq OM
    • also ^IgE/IgA and dec IgM

    • Inc risk of atopic disorders, lymphoma/leukemia
    • Infxn w/ S. pneumo, S. aureus, H. influ B

    • Tx:supportive, IVIG & Abx
    • Pt's w/ bad infxn may get marrow trnsplnt
  79. Chronic Granulomatous Dz
    Inheritence...
    Presentation...
    • X-linked (2/3)
    • AR (1/3)

    jacked superoxide production by PMN and macrophages

    • Chronic skin, pulm, GI, GU infxns; osteomyelitis, hepatitis
    • organisms are catalase +
    • ^risk of Aspergillus infxn

    may have granulomas of skin, GI/GU tracts
  80. CGD Dx & Tx
    Nitroblue tetrazolium

    • Tx: daily TMP-SMX
    • INF gamma can dec serious infxn
    • Bone marrow trnsplnt and gene therapy are new options
  81. Leukocyte Adhesion Deficiency
    presentation...
    Tx..
    defective chemotaxis of WBCs

    • recurrent skin, pulm, mucosal infxns
    • may present with omphalitis w delayed separation of umbilical cord

    • No pus w/ minimal inflammation in wounds
    • High WBC's in blood

    Tx: Bone Marrow transplant is curative!!
  82. Chediak-Higashi
    inheritance...
    triad...
    Dx and Tx...
    • AR
    • defect in neutrophil chemotaxis & microtubule polymerization

    Triad: Oculocutaneous albinism, neuropathy, neutropenia

    • Inc in bad infxns w/ S. aureus, S. Pneumo, Pseudomonas
    • Dx: giant granules in neutrophils
    • Tx: BM transplant TOC
  83. Hereditary Angioedema
    • AD
    • aka: C1 esterase def

    • episodes of angioedema for 2-72hrs, d/t stress or trauma
    • **poss life-threatening airway edema

    • Dx: Tot hemolytic complement to assess quant/fxn of complement
    • Tx: purified C1 and FFP b4 Sx
  84. Terminal Complement Def
    • (C5-C9 def)
    • Can't form MAC

    • Si/Sx: recurrent meningococcal or gonococcal infxns
    • rarely lupus or GN

    Tx: Menactra Vacc & appropriate Abx
  85. MC Immunodef
    age of onset
    si/sx
    • B-cell def are most common 50%
    • onset after 6 mos

    • recurrent sinopulm, GI, GU infxns
    • with encapsulated bact:
    • H.influ, S. pneum, N. Meningitidis

    Tx: IVIG (**except IgA Def)
  86. T-cell Def
    age of onset
    types of infxns
    present earlier 1-3 mos

    • opportunistic
    • low grade fungal
    • viral
    • intracellular bact infxn (mycobact)
  87. Phagocyte deficiencies
    infxns
    organisms
    • mucus membrane infxns
    • absesses
    • poor wound healing

    • Infxn w/ catalse + organisms (staph)
    • fungi, and G- enteric organisms
  88. Complement Def
    typical pts
    infxns
    • kids / congnital asplenia
    • splenic dysfxn (sickle cell)

    recurrent infxns with encapsulated organisms
  89. Common encapsulated organisms
    • Strep Pneumo
    • N. Meningitidis
    • H. Influenza
    • Klebsiella
    • Group B Strep
    • Salmonella
    • Pseudomonas
  90. Kawasaki's dz
    characteristics
    • multisystemic acute vasculitis
    • 80% are <5yrs old

    • Fever >40C at least 5 days
    • Conjuctivitis (bilat.)
    • Polymorphous rash
    • Cervical lymphadenopathy at least on node >1.5cm
    • Mucous membrane erythema (strawberry tongue)
    • Erythema of palms and soles, late desquamation

    • Other:
    • sterile pyuria, GB hydrops, hepatitis, arthritis
  91. Kawasaki Tx
    poss complications
    • High dose ASA (for inflammation/fever)
    • IVIG (prevents aneurysms)
    • Corticosteroids in IVIG refractory cases
    • Low dose ASA usually continued for 6wks

    poss complications: MI coronary aneurysm
  92. Juvenile Idiopathic Arthritis
    AI disorder

    • Morning stiffness
    • gradual loss of motion for at least 6wks
    • pts <16 yrs old
  93. JRA/JIA types
    • Pauciarticular: MC
    • 4 or fewer joints involved
    • usually ANA + and RF-
    • Uveitis common

    • Polyarthritis:
    • >5 joints, symmetric
    • rarely RF +, but idicates severe dz
    • may be ANA+ in mild dz

    • Systemic-onset (Still's dz):
    • recurrent High fevers (usually >39C)
    • hepatosplenomegaly
    • Salmon-colored macular rash
    • usually RF-/ANA-
  94. JRA Tx
    • 1st Line:
    • NSAIDs
    • strengthening exercises

    • 2nd Line:
    • Corticosteroids
    • Immunosuppresive meds (methotrexate, anti-TNF)
  95. MCC of OM
    • bacterial:
    • S. pneumo
    • H. influ
    • M. catarrhalis

    • viral:
    • Influenza A
    • RSV
    • Parainfluenza
  96. Bronchiolitis
    causes
    presentation
    • acute inflammatory illness of small airways
    • usually <2yrs old
    • MCC=RSV
    • others: parainflu, influenza, metapneumo

    • low fever, rhinorrhea, cough apnea
    • tachypnea, wheezing, IC retractions
    • prolonged expiration, hyperres
  97. Tx of bronchiolitis
    mild dz: fluid & nebs outpt

    resp distress: hospitalize, hydration, O2, albuterol nebs

    hospitalize if: O2 sat <92%, toxic appearance, premie, <3mos, cardiopulm dz, bad parents
  98. Croup
    causes...
    presentation...
    Dx & Tx...
    • aka Laryngotracheo-bronchitis
    • MCC parainfluenza
    • other: RSV, flu, adenovirus

    • URI, then low fevers, mild dyspnea
    • Inspiratory stridor worse w/ agitation
    • barking cough, hoarse voice

    • Dx: clinical impression
    • Xray may show Steeple sign
    • Tx:
    • mild cases-cool mist therapy, fluids
    • moderate - O2, PO/IM corticosteroids, epi nebs
    • Severe - hospitalze, epi nebs
  99. Epiglottitis
    causes...
    presentation...
    • supraglottic infxn
    • MCC was H. Influ before vacc
    • others: strep, nontypable H. Influ, viral

    • Dysphagia, drooling, muffled voice
    • inspiratory retractions, stridor
    • Sniffing dog position
  100. Epiglottitis
    Dx & Tx
    • Dx: clinical
    • confirmed via visualization of cherry-red swollen epiglottis and arytenoids
    • Xray may show thumb print sign

    • Tx: endotracheal intubation, tracheostomy
    • IV Abx

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