Pediatrie Flashcards

1
Q

I/E hipotiroidism congenital

A

Icter (icterul prelungit = frecvent primul semn)
Letargie
Hipotonie
Hipotermie
Piele uscata
Alimentatie deficitara, deficit de crestere
Macroglosie
Constipatie
Fontanela mare - ramane deschisa
Hernie ombilicala

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2
Q

Manifestari boala Anderson

A

Intarziere de crestere in copilarie
Hmegalie -> IH
Afectare musculara, cardiaca - forme cu debut tardiv

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3
Q

Manifestari boala von Gierke

A

Apar in primele 3-4 luni de viata
- Hepatomegalie
- Facies de papusa
- Extremitati subtiri
- Hipoglicemie
- Convulsii

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4
Q

Factori de risc eritroblastoza fetala

A

Mama cu Rh- cu orice istoric de hemoragie materno-fetala
- Avort
- Amniocenteza
- Sangerere in T3

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5
Q

I/E anemie Fanconi

A

OS RAPID

Oboseala (astenie)
Statura joasa
Rinichi in potcoava
Anomalii de degete
Pigmentari cutanate anormale - hiper (café au lait)/hipo
Infectii frecvente
Dispnee de efort

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6
Q

Tratament anemia Fanconi

A

AB
Transfuzii
TM/TCSH
Factori de crestere hematopoietici
Androgeni, corticosteroizi - cresc activitatea medulara

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7
Q

I/E anemie Diamond Blackfan

A

Precoce - COPD - cianoza, oboseala, paloare, dispnee
+ DASH

Dizabilitate intelectuala
Anomalii cranio-faciale, de degete
Sufluri cardiace
Hipogonadism

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8
Q

I/E neuroblastom

A

Shake My Head For Expressing Disapproval To People

S = scadere ponderala, stare generala alterata
M = masa abdominala
H = HTA, Hmegalie, Horner
F = febra
E = echimoza periorbitara
D = distensie si durere abdominala, diaree, dureri osoase
T = tulburari de miscare
P = proptoza

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9
Q

Factori de risc neuroblastom

A

NF
ST
Feo
Sindrom Beckwith-Wiedemann
Sindrom Turner
Consum matern redus de folat

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10
Q

Tipuri de fistule traheo-esofagiene + frecventa

A

Atrezie cu fistula distala = 84%
Atrezie izolata = 8%
Fistula izolata = 4%
Atrezie cu fistula dubla = 3%
Atrezie cu fistula proximala = 1%

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11
Q

I/E EUN

A

Letargie
Alimentatie deficitara
Varsaturi bilioase
Diaree
Hematochezie
Distensie si sensibilitate abdominala
Semne de soc - cazuri grave

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12
Q

Rx abdominala in EUN

A

Distensie si pneumatoza intestinala
Pneumoportie
Pneumoperitoneu

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13
Q

Tratament EUN

A

NPT
AB IV
AB cu spectru larg
Aspirare NG
Rezectia intestinului afectat

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14
Q

Factori de risc invaginatie

A

Diverticul Meckel
PHS (invaginatie ileo-ileala)
FC
Adenoviroza

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15
Q

I/E invaginatie

A

Paloare
Transpiratie
Varsaturi
Durere abdominala episodica brusca < 1 min
Mucus + sange in scaun (aspect de jeleu de coacaze)
Sensibilitate abdominala
Masa abdominala ovoida palpabila (boudin de invaginatie)

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16
Q

Cauze icter neonatal

A

Fiziologic (frecvent) - excretie scazuta, esec al alimentatiei naturale
Hemoliza crescuta - incompatibilitate ABO, anomalii de elemente figurate, deficit G6PD
Non-hemolitic - hemoragie, transfuzie materno-fetala
Anomalii hepatice - Gilbert, Crigler-Najjar, atrezie biliara

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17
Q

I/E icter neonatal

A

Icter sclero-tegumentar
In caz de icter nuclear (kernicter)
- Letargie
- Plans ascutit
- Convulsii
- Apnee

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18
Q

Teste de laborator in deficit de crestere

A

Sumar de urina
HLG
Hemocultura
Ionograma
Screening FC
Inregistrare aport caloric

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19
Q

I/E tumora Wilms

A

Scadere ponderala
Febra
Greata
Varsaturi
HTA
Disurie
Poliurie
Masa palpabila in abdomen/flancuri

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20
Q

Convulsii febrile simple

A

Convulsii TCG
< 15 min
Maxim 1/24h
Revine la N dupa

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21
Q

Convulsii febrile complexe

A

Oricare din urmatoarele
Crize focale
> 15 min
> 1/24h
Status postictal prelungit/deficit focal

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22
Q

Tratament convulsii febrile

A

Stabilitate respiratorie
Antipiretice (NU aspirina - sdr Reye)
Observare pentru revenirea la starea initiala
Tratarea cauzei subiacente

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23
Q

I/E HC

A

Sugari - cresterea excesiva a capului, bombarea fontanelei, dilatarea venelor scalpului
Copii mai mari
- Letargie
- Iritabilitate
- Inapetenta
- Cefalee
- Varsaturi
- Diplopie
- Edem papilar
- Fuziunea deficitara a suturilor

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24
Q

I/E boala Tay-Sachs

A

Dezvoltare deficitara dupa cateva luni de viata
Paralizie progresiva
Atentie scazuta
Auz exacerbat
Modificari de status mental
Pete rosii-ciresii pe retina (FO)
Pierderea vederii

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25
Q

Deficite neurologice frecvente in mielomeningocel

A

Incontinenta MF/urina
Paralizie flasca
SNMP
Sensibilitate deficitara
HC

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26
Q

Factori de risc PC

A

Prematuritate
Retard de crestere i.u
Traumatisme obstetricale (EHIP)
Convulsii neonatale
Hemoragie cerebrala
Asfixie perinatala (EHIP)
Nasteri multiple
Infectii i.u (corioamniotita)

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27
Q

I/E botulism infantil

A

Letargie
Alimentatie deficitara
Constipatie
Plans slab
Reflex de inghitire slab
Hipotonie
Dificultati de respiratie

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28
Q

Tratament retinoblastom

A

Enucleere - tumori mari fara potential vizual
RTx - tumori bilaterale/langa nervul optic
Crioterapie/FCL - tumori mici
CTx - metastaze/salvarea vederii

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29
Q

I/E DSV

A

Asimptomatic - defect mic
Infectii respiratorii frecvente
Esec de dezvoltare
Dispnee
IC - defect sever
Suflu holo/pansistolic in focarul T
Freamat sistolic
Accentuare P2

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30
Q

I/E DSA

A

Uneori asimptomatic
Cianoza - defect mare
IC
Dispnee
Astenie/esec al dezvoltarii
Soc apexian accentuat in focarul T
Suflu sistolic de ejectie in focarul P
Z2 dedublat, larg, fix

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31
Q

I/E TAC

A

Cianoza postnatala
Dispnee
Astenie
Esec de dezvoltare
IC precoce
Suflu sistolic rugos in focarul T
Palpitatii (puls saltaret)
Z1, Z2 accentuate

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32
Q

Factori de risc PCA

A

Prematuritate
Altitudine mare
Infectie materna cu virus rubeolic in T1
PG administrate in sarcina
Sex F > M

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33
Q

I/E PCA

A

Uneori asimptomatic
IC
Presiunea pulsului crescuta
Puls saltaret
Palpitatii
Suflu continuu de tunel in SIC 2
Z2 accentuat

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34
Q

I/E IVPAT

A

Cianoza
Insuficienta respiratorie
Doc
Sufluri sistolice si diastolice (uneori)
Hmegalie (ICD)

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35
Q

I/E TF

A

Cianoza precoce
Dispnee
Astenie
Manevre compensatorii in episoadele hipoxemice
Suflu sistolic de ejectie in focarul T
Ridicarea VD (semn Harzer)
Z2 unic

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36
Q

Tratament TF

A

PGE -> PCA
O2 terapie
Propranolol
Morfina
Fluide i.v
Manevre compensatorii
Chirurgie

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37
Q

I/E CAV comun

A

Forma partiala - semne de DSA
Forma completa - IC, pneumonita
Sufluri in functie de defecte (DSA, DSV)

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38
Q

I/E Kawasaki

A

Febra > 5 zile
+ (CREAM)
Conjunctivita
Rash maculopapular
Edeme (edematierea buzelor + eritem = limba zmeurie)
Adenopatie cervicala (>1.5 cm)
Membre - descuamare epiteliala pe maini si picioare

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39
Q

I/E PHS

A

IACRS recenta
Purpura palpabila pe fese si extremitatile inferioare
Durere abdominala, sangerari GI
Hematurie
Artrite/artralgii poliarticulare

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40
Q

BCC cianogene

A

TVM
DSV cu Eisenmenger
DSA mare/cu Eisenmenger
TAC
Atrezie de tricuspida
IVPAT
TF
CAV comun complet

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41
Q

BCC care determina IC

A

DSV
DSA
TAC
PCA
CAV comun complet
IVPAT (ICD)

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42
Q

BCC care pot fi asimptomatice

A

DSV
DSA
PCA

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43
Q

In ce BCC e prezent pulsul saltaret?

A

TAC
PCA

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44
Q

In ce BCC se face angio?

A

TAC
PCA
IVPAT

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45
Q

In ce BCC se face cateterism cardiac?

A

TF
CAV comun

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46
Q

I/E crup

A

FELT So Damn Crazy

Febra
Eritem faringian discret
Limfadenopatie
Tuse latratoare
Stridor inspirator
Dispnee + detresa (cazuri severe)
Congestie nazala

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47
Q

Agenti etiologici mai rari in crup

A

PISIRAM

Parainfluenza 3
Sincitial (VSR)
Influenza (gripal)
Rubeolic
Adenovirus
Mycoplasma

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48
Q

I/E epiglotita

A

FATE VSHD

Febra inalta cu debut brusc
Anxietate
Tiraj inspirator
Epiglota edematiata si eritematoasa
Voce infundata
Stridor discret
Hipersalivatie
Disfagie

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49
Q

Tratament epiglotita

A

Mentinem copilul linistit
Internare -> observatie si monitorizare respiratorie
IOT -> mentinerea permeabilitatii CR -> daca nu, traheostomie de urgenta
AB (ceftriaxona) 7-10 zile

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50
Q

I/E bronsiolita

A

CD WREATH

Congestie nazala
Detresa
Wheezing
Raluri
Expir prelungit
Aparitia febrei
Tuse, Tahipnee
Hipersonoritate la percutie

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51
Q

Tratament bronsiolita

A

Aspirare nazala
Hidratare
Umidifiere aer
Internare pentru observare si suport respirator (la cei cu detresa/hipoxemie)
NU sunt indicati GC, BD (epi, beta 2 agonisti)

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52
Q

Tratament crup

A

Suportiv (URA, hidratare)
Umidifiere aer
Repaus
Analgezice

Caz usor -> GC (po, im, iv)
Caz sever -> epi aerosol + GC

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53
Q

I/E SDR a nou-nascutului

A

In primele 2 zile de viata
Cianoza
Geamat respirator
Batai ale aripioarelor nazale
Tiraj intercostal
FR > 60/min
Raluri
Diminuarea sonoritatii pulmonare

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54
Q

Tratament SDR

A

Corticosteroizi
Internare neonat
Oxigenoterapie
Substitutie surfactant
Presiune pozitiva in CR
+/- IOT - daca e refractar la Tx/necesita volume mari de O2 pentru a mentine SaO2 adecvata

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55
Q

I/E SAM

A

Lichid amniotic de culoare meconiala in timpul nasterii
Cianoza
Tiraj intercostal
Distensie toracica
Tahipnee

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56
Q

Tratament SAM

A

Aspirare nas + gura
Oxigenoterapie
Surfactant
AB empirica - in caz de pneumonie
IOT daca se agraveaza detresa (NU pentru aspiratie)

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57
Q

I/E FC

A

DISH TV Packages
322

Dispnee
Degete hipocratice
Deficit de crestere
Ileus meconial
Infectii pulmonare recurente
Steatoree
Sinuzita cronica
Hemoptizie
Tuse
Varice esofagiene
Prolaps rectal

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58
Q

Tratament FC

A

DNaza - fluidifica secretiile
Enzime pancreatice
Vit liposolubile
BD
AINS
AB - in exacerbari pulmonare/infectii
Fizioterapie - ajuta la eliminarea secretiilor

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59
Q

Criterii de internare bronsiolita

A

Hipoxemie
Insuficienta respiratorie
Detresa

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60
Q

Boli digestive care determina distensie abdominala

A

FTE
EUN
Boala Hirschprung
Malrotatie cu volvulus

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61
Q

Boli digestive care dau varsaturi bilioase

A

Malrotatie cu volvulus - trebuie suspectata prima
EUN

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62
Q

Boli digestive care dau obstructie

A

Stenoza pilorica
Boala Hirschprung
Invaginatie
Malrotatie cu volvulus

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63
Q

Tratament anemie Diamond Blackfan

A

Corticosteroizi
Transfuzii
Transplant medular

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64
Q

Evolutia greutatii de la nastere

A

X2 la 6 luni
X3 la 1 an
X4 la 2 ani
2 kg/an de la 2 la 13 ani (adolescenta)

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65
Q

Cauze de deficit de crestere

A

Aport dietetic deficitar (alimentatie deficitara, abuz)
Varsaturi
Diaree cronica
Malabsorbtie
Neoplazie
Boli congenitale - cardiace, endocrine

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66
Q

Cea mai comuna cauza de deficit de crestere

A

Factori psihosociali/economici

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67
Q

Cu ce se asociaza obezitatea copilului?

A

Crestere rapida
Pubertate precoce
Dezvoltare precoce a DZ
Disfunctie sociala
Incidenta crescuta de infectii tegumentare
Apnee de somn
HTA
AECF

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68
Q

Evolutia inaltimii

A

+ 50% la 1 an
X2 la 4 ani
X3 la 13 ani
De la 2 la 13 ani (adolescenta) creste cu 5 cm/an

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69
Q

Cauze de statura inalta

A

Familial
Pubertate precoce
Obezitate
Gigantism
Hipertiroidism
Klinefelter
Marfan

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70
Q

Cauze de statura joasa

A

Familial
Neglijenta
Intarzierea constitutionala a cresterii
Turner
BCR
FC
AB
BII
Boli imunologice
Deficit de GH (nanism hipofizar)
Hipotiroidism
Exces de glucocorticoizi (Cushing)
Displazii scheletale
Neoplazie

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71
Q

Evolutie PC

A

+ 5 cm -> 0-3 luni
+ 4 cm -> 3-6 luni
+ 2 cm -> 6-9 luni
+ 1 cm -> 9-12 luni

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72
Q

Cauze macrocefalie

A

Boli metabolice cerebrale - Tay-Sachs, MSUD
Sindroame neurocutanate - NF, ST
Hidrocefalie
Cresterea PIC
Hemoragie intracraniana
Displazie scheletala
Acromegalie

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73
Q

Cauze microcefalie

A

Expunere fetala la toxine - sindromul alcoolic fetal
Trisomii
Infectii congenitale - sindrom TORCH
Anomalii anatomice craniene
Defecte de tub neural
Boli metabolice

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74
Q

Asocieri semne - patologii

A

Diaree - malabsorbtie
Hiperglicemie - DZ
Cianoza - BCC
Echimoze, interactiune anormala copil-parinte - abuz
Lipsa de atentie, apatie - anomalii psihologice

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75
Q

Cauze de intarzieri multiple/persistente ale achizitiilor sociale, fizice sau intelectuale

A

Dizabilitate intelectuala
Boli genetice - trisomie 21, sindrom X fragil
Boli psihiatrice - ADHD, autism
Tulburari de limbaj/auz
Abuz asupra copilului

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76
Q

Scopul controalelor de rutina

A

Evaluarea cresterii
Detectarea intarzierilor de crestere si dezvoltare
Vaccinuri
Screening pentru procese patologice
Indrumare anticipata

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77
Q

Repere sociale/cognitive dupa varsta

A

2 L - zambet social
4 L - rade, localizeaza sunetele, constient de persoana care il ingrijeste
6 L - anxietate la persoane straine, diferentiaza parintii de alte persoane
9 L - anxietate de separare (9-15 luni), jocuri interactive
12 L - anxietate de separare
18 L - joc paralel
2 A - se imbraca cu ajutor
3 A - Identitate de gen (2-3 ani), gandire magica
4 A - se joaca cu alte persoane
6 A - distinge fantasticul de realitate

78
Q

Miscare grosiera dupa varsta

A

2 L - ridica capul la 45 gr
4 L - ridica capul la 90 gr
6 L - se rostogoleste, se tine cu mainile, sta fara sprijin
9 L - se taraste, se ridica in picioare
12 L - merge cu ajutor
18 L - merge bine (singur), merge inapoi
2 A - alearga, urca scarile (initial cu 2 picioare, apoi cu cate 1)
3 A - urca si coboara scarile
4 A - sare pe un picior
6 A - sare coarda

79
Q

Miscare fina dupa varsta

A

2 L - urmareste pana la linia mediana
4 L - urmareste dincolo de linia mediana
6 L - prinde/grebleaza, incearca sa manance singur
9 L - prinde cu degetul mare
12 L - prinde ca un cleste, turn din 2 blocuri
18 L - foloseste cana si lingura, turn din 4 blocuri
2 A - turn din 6 blocuri
3 A - turn din 9 blocuri, deseneaza cerc
4 A - deseneaza linie (+), ulterior deseneaza linie inchisa (triunghi)
6 A - deseneaza o persoana

80
Q

Dezvoltare limbaj dupa varsta

A

2 L - gangureste
6 L - gangureste cu silabe
9 L - primele cuvinte
12 L - vocabular 5-10 cuvinte
18 L - vocabular 10-50 cuvinte, propozitii 2 cuvinte
2 A - vocabular 50-75 cuvinte, propozitii 3 cuvinte
4 A - vocabular 250+ cuvinte, propozitii 4 cuvinte
6 A - vorbeste fluent

81
Q

Ce vizeaza controalele de rutina?

A

Screening boli
Nutritie
Dezvoltare
Ingrijire zilnica
Prevenirea accidentelor
Probleme comportamentale

82
Q

Vaccinuri vii

A

Varicela
ROR
Rotavirus
Polio oral

83
Q

Varsta pubertatii

A

9-10 ani F
9-11 ani B

84
Q

Caracteristici adolescenta timpurie

A

10-13 ani

Gandire concreta
Comportament independent precoce

85
Q

Caracteristici adolescenta mijlocie

A

14-16 ani

Sexualitate - identitate sexuala, activitate sexuala
Dorinta accentuata de independenta - conflicte cu parintii, necesitatea de indrumare, preocupare de sine
Gandire abstracta

86
Q

Caracteristici adolescenta tarzie

A

17-21 ani

Augmentare autoconstientizare
Incredere crescuta in abilitatile proprii
Relatie mai deschisa cu parintii
Maturitate cognitiva

87
Q

Riscuri la varsta adolescentei

A

Comportamente periculoase - droguri, activitate sexuala neprotejata, violenta
Depresie
Ideatie suicidala
Omor
Tulburari de alimentatie

88
Q

Anamneza la varsta adolescentei ar trebui sa includa

A

Factori de risc - BTS, violenta, abuz
Utilizare substante
Dispozitie
Modificari fizice
Obiceiuri nutritionale
Probleme legate de menstruatie
Grijile pacientului

88
Q

Examenul clinic la varsta adolescentei ar trebui sa includa

A

Maturitatea sexuala
Probleme dermatologice - acnee, nevi, expunere la soare
Crestere adecvata in greutate si inaltime
Masele scrotale - detectie cancer testicular

89
Q

Screening medical suplimentar in adolescenta

A

HTA
DZ
Obezitate
Hiperlipidemie

90
Q

Principala cauza de deces la varsta adolescentei

A

Accidentele

91
Q

Semne fizice sugestive pentru trauma neaccidentala (abuz)

A

Hemoragii retiniene
Echimoze in locuri neobisnuite/cu pattern neobisnuit - fata, gat, interiorul coapsei
HSD
Arsuri cu demarcatii imprecise/cu forma unor obiecte specifice (fier, tigara)
Fracturi specifice - coaste posterioare, metafiza, fracturi in diferite stadii de vindecare

92
Q

Cea mai comuna cauza de deces prin trauma pediatrica neaccidentala

A

Leziunea craniana
Apoi injurii abdominale

93
Q

Screening nn-sapt 1 de viata

A

Fenilcetonurie
Hipotiroidism
Boli metabolice genetice (FC, MSUD) la cei cu risc mare
Auz
Mobilitate vizuala
Reflexe

94
Q

CI vaccin rotavirus

A

Anafilaxie dupa doza anterioara
IDCS
APP de invaginatie

95
Q

CI vaccin ROR

A

Sarcina (sau gravida la domiciliu)
ID
Trombocitopenie
Neoplazie hematologica/neoplasm solid
Anafilaxie dupa doza anterioara

96
Q

CI vaccin contra Varicella-zoster

A

Sarcina (sau gravida la domiciliu)
ID
Alergie la neomicina
Boala moderata/severa

97
Q

Schema HepA

A

2 doze la cel putin 6 luni distanta intre ele
12-18L

98
Q

Schema HepB

A

Nastere
1-2L
6-18L

99
Q

Schema rotavirus

A

2L
4L
6L

100
Q

Schema DTP

A

2L
4L
6L
15-18L
4-6A
11-12A (>7 ani)

101
Q

Schema Hib, PCV (la fel)

A

2L
4L
6L
12-15L

102
Q

Schema IPV

A

2L
4L
6-18L
4-6A

103
Q

Schema IIV (influenza = anti-gripal)

A

6L-6A -> anual 1 sau 2 doze
11-18A -> anual, 1 doza

104
Q

Schema ROR, VZV (la fel)

A

12-15L
4-6A

105
Q

Schema MCV

A

11-12A
16-18A

106
Q

Schema HPV

A

11-12A
3 doze pe o perioada de 6 luni

107
Q

Sindrom DiGeorge - descriere

A

Deletie 22q11.2
Hipoplazie timica + paratiroidiana
BCC
Tetanie
Structura faciala anormala
Infectii fungice + virale recurente

108
Q

Candidoza cutaneo-mucoasa cronica - descriere

A

Infectii persistente cu Candida albicans la nivel de tegumente, mucoase si unghii
Asociaza frecvent boala de suprarenala

109
Q

Sindrom DiGeorge - Dx

A

Clinic - tetanie + anomalii faciale
Ca seric scazut
BCC documentate
RxT - absenta profilului timic
Screening genetic - anomalii cromozomiale

110
Q

Sindrom DiGeorge - tratament

A

Ca
Vit D
Transplant timic
Transplant medular
Corectie BCC
+/- Ig i.v, ABterapie profilactica

111
Q

Agamaglobulinemie X linkata - tratament

A

Ig i.v
AB
Suport respirator

112
Q

Deficit de IgA - tratament

A

AB profilactica
Ig i.v cu precautie - risc scazut de anafilaxie

113
Q

Sindrom hiper IgM - tratament

A

Ig i.v
ABterapie profilactica
Transplant medular

114
Q

CVID - Dx

A

Ig scazute
Raspuns slab la vaccinare
CD4/CD8 scazut
Istoric familial - afectarea ambelor sexe

115
Q

CVID - tratament

A

Ig i.v
AB

116
Q

Deficiente de C - tratament

A

AB
Tratament BAI

117
Q

IDCS - tratament

A

Ig i.v
AB
Transplant medular
CI de vaccinuri vii/vii atenuate

118
Q

Sindrom Wiskott-Aldrich

A

Susceptibilitate mare la infectii cu incapsulate/oportunisti
Eczeme
Trombocitopenie

119
Q

Sindrom Wiskott-Aldrich - Dx

A

Infectii recurente + eczeme + sangerari facile
Trombocitopenie
IgM scazut, celelalte Ig N/crescute
Gena WASP anormala

120
Q

Sindrom Wiskott-Aldrich - tratament

A

Splenectomie
ABterapie profilactica
Ig i.v
Transplant medular

121
Q

Ataxie-telangiectazie - descriere

A

Disfunctie cerebeloasa
Telangiectazii cutanate
Risc mare de cancer
Dezvoltare defectuoasa a L, IgA

122
Q

Ataxie-telangiectazie - Dx

A

Telangiectazie, ataxie dupa 3 ani
Infectii pulmonare recurente cativa ani mai tarziu
WBC scazut
IgA scazut

123
Q

Ataxie-telangiectazie - tratament

A

Ig i.v
ABterapie profilactica

Tratamentul nu limiteaza evolutia bolii

124
Q

Boala granulomatoasa cronica - Dx

A

Abcese cutanate, pulmonare, perirectale
Limfadenopatie cronica
Mutatii genetice specifice

125
Q

Boala granulomatoasa cronica - tratament

A

ABterapie profilactica
Interferon gamma
Corticoterapie
Transplant medular

126
Q

Sindrom Job (hiper-IgE) - descriere

A

Anomalii de
- Chemotaxie neutrofilica
- Semnalizare a LT
- Supraproductie de IgE

Dermatita cronica
Abcese cutanate recurente
Infectii pulmonare
Trasaturi faciale grosolane
Dentitie primara persistenta

127
Q

Sindrom Job - tratament

A

ABterapie profilactica
Hidratarea pielii
Emolienti

128
Q

Sindromul Chediak-Higashi - descriere

A

Disfunctie neutrofilica
Infectii recurente cu S. aureus, streptococ, G-, fungi
Trombocite anormale
Albinism
Disfunctii neurologice

129
Q

Sindromul Chediak-Higashi - tratament

A

ABterapie profilactica
Transplant medular

130
Q

Deficit de adeziune leucocitara - descriere

A

Inabilitatea neutrofilelor de a parasi circulatia
Tip 1 - anomalii de integrine
Tip 2 - anomalii de selectina E
IACRS si tegumentare bacteriene recurente
Detasare intarziata a bontului ombilical
Statura joasa, facies anormal, deficiente cognitive - doar tipul 2

131
Q

Deficit de adeziune leucocitara - tratament

A

ABterapie profilactica
Tip 1 - transplant medular
Tip 2 - suplimentare de fucoza

132
Q

Ce patologii imune cresc riscul de cancer si BAI?

A

CVID - ambele
Ataxie-telangiectazie - cancer
Deficienta de complement - BAI (LES)

133
Q

Ce patologii imune necesita tratament cu Ig i.v?

A

Toate care sunt date de anomalii de limfocite (B, T sau ambele)
Exceptie: candidoza cutaneo-mucoasa cronica

134
Q

Ce patologii necesita transplant medular ca metoda de tratament?

A

Sindromul DiGeorge
Sindromul Hiper-IgM
IDCS
Sindromul Wiskott-Aldrich
Boala granulomatoasa cronica
Sindromul Chediak-Higashi
Deficit de adeziune leucocitara tip 1

135
Q

Ce boli imunologice cresc riscul de infectie cu bacterii incapsulate?

A

Sindromul hiper-IgM
Sindromul Wiskott-Aldrich

136
Q

Tratament PC

A

Terapie farmacologica
- Toxina botulinica
- Dantrolen
- Baclofen
- BZD
Fizioterapie
Tonifiere
Chirurgie
Suport social si psihologic

137
Q

Factori de risc displazie de dezvoltare a soldului

A

Sex F
Primul copil nascut
Copii nascuti in pozitie pelvina
Oligohidramnios

138
Q

Tratament displazie de dezvoltare a soldului

A

< 6 luni = ham Pavlik
6 luni - 2 ani = reductie deschisa/inchisa + aparat gipsat
> 2 ani = reductie deschisa
Nu se mai corecteaza dupa 8 ani (beneficiu scazut)

139
Q

Factori de risc AECF

A

Adolescenta
Obezitate
Rasa neagra
Hipotiroidism

140
Q

I/E AECF

A

Durere coapsa, genunchi
Schiopatare
Limitare RI + ABD sold
Flexia soldului produce rotatie externa

141
Q

Complicatii boala Legg-Calvé-Perthes

A

Osteoartroza
NACF progresiva
Displazie permanenta -> necesitate de artroplastie

142
Q

Varus equin

A

ADD + FP + INV

143
Q

I/E rahitism

A

Picioare deformate
Cifoscolioza
Oase craniene moi
Statura joasa
Durere osoasa
Mers intarziat
Slabiciune a membrului proximal
Adulti (osteomalacie) - fracturi pe os patologic (prin trauma minima)

144
Q

Tratament scolioza

A

Curburi mici - observare
Curburi moderate, pacienti tineri - fixare
Curburi severe, varstnici - chirurgie

145
Q

I/E distrofie musculara Duchenne

A

Pastile De SOMN

Pseudohipertrofie gambiera
Dificultate la mers/ortostatism
Slabiciune proximala, apoi distala
Oboseala (fatigabilitate)
Mers clatinat, Manevra Gower+
Neindemanare progresiva

146
Q

Tratament distrofie musculara Duchenne

A

Fizioterapie
Corticoterapie
Suport respirator
IECA - scad postsarcina

147
Q

Complicatii distrofie musculara Duchenne

A

Cardiopatie progresiva
Scolioza
Contracturi in flexie
Deces - pana la 20 de ani (probleme respiratorii)

148
Q

Complicatii sold septic

A

Instabilitate a soldului
NACF
Osteoartrita
Sepsis

149
Q

Simptome extra AIJ pauciarticulara

A

30% cazuri
Uveita
Iridociclita

150
Q

Simptome extra AIJ poliarticulara

A

Retard de crestere
Febra
Iridociclita (rar)

151
Q

Simptome extra AIJ sistemica

A

Crosete febrile
Rash maculopapular
Retard de crestere
Pericardita
HSmegalie
Limfadenopatie

152
Q

Complicatii AIJ pauciarticulara

A

Orbire (iridociclita)
Discrepanta in lungimea picioarelor
Boala cronica cu artroza progresiva (rar)

153
Q

Complicatii AIJ poliarticulara

A

Discrepanta in lungimea picioarelor
Artroza cronica

154
Q

Complicatii AIJ sistemica

A

Discrepanta in lungimea picioarelor
Artroza cronica
Artroza mandibulara
Amiloidoza

155
Q

I/E Sindrom Turner

A

Statura joasa
Infertilitate
Malformatii renale si cardiace (CoA)
Anomalii de organe genitale
Anomalii craniofaciale
- Pterygium colli
- Insertie joasa, occipitala a parului
- Urechi proeminente

156
Q

I/E sindromul Klinefelter

A

Statura inalta
Infertilitate
Ginecomastie
Atrofie testiculara
Dizabilitate intelectuala moderata
Dificultati de integrare psihosociala

157
Q

I/E sindrom XYY

A

Statura inalta > 182 cm
Acnee severa
Dizabilitate intelectuala usoara

158
Q

I/E sindrom XXX

A

Anomalii de ciclu menstrual
Dizabilitate intelectuala

159
Q

Tratament trisomii

A

Ingrijire boli asociate
Educatie speciala/mediu selectiv pentru managementul dizabilitatii intelectuale
Corectie chirurgicala a defectelor anatomice
Consiliere genetica si pregatire prenatala pentru parinti

160
Q

I/E sindrom Down

A

Retard mental
Anomalii craniofaciale - limba protruziva, nas in sa, urechi mici
Maini late + plica simiana
Distanta intre haluce si deget 2 picior
Instabilitate coloana cervicala
Pierderea vederii si auzului
Risc mare de atrezie duodenala + alte anomalii GI
Malformatii cardiace
Boala Alzheimer
LAL
De obicei supravietuire pana in decada 4 (posibil mai mult)

161
Q

I/E sindrom Edwards

A

Retard mental sever
Malformatii cardiace
Anomalii de tract GI
Cavitate bucala subdezvoltata
Anomalii de membre
- Malpozitie
- Talus vertical congenital
- Suprapunerea degetelor in timpul apucarii

Frecvent fatala in primul an de viata

162
Q

I/E sindrom Patau

A

Retard mental sever
Malformatii cardiace
Anomalii SNC
Cheilopalatoschizis
Nas rotunjit
Polidactilie

Frecvent fatala in primul an de viata

163
Q

I/E sindrom cri-du-chat

A

Plans ascutit (asemanator tipatului de pisica)
Cap mic
Greutate mica la nastere
Dizabilitate intelectuala

Mortalitate precoce (retard de crestere si dezvoltare)

164
Q

I/E sindrom Wolf-Hirschhorn

A

Dizabilitate intelectuala
Convulsii
Anomalii craniene multiple

165
Q

I/E sindrom Prader-Willi

A

Hiperfagie
Obezitate (complicatiile obezitatii scad speranta de viata)
Dizabilitate intelectuala
Maini si picioare mici
Hipotonie musculara la varsta de sugar

166
Q

I/E sindrom Angelman

A

Miscari ca de papusa
Dispozitie buna
Ras neprovocat
Dizabilitate intelectuala
Ataxie
Convulsii

167
Q

I/E sindrom velocardiofacial

A

Palatoschizis
Malformatii cardiace
Retrognatism semnificativ
Tulburari de vorbire
Dizabilitate intelectuala usoara
Deficit de limfocite T, hipocalcemie, asociere cu sindromul DiGeorge

Mortalitate precoce (malformatii cardiace, sindrom DiGeorge)

168
Q

I/E sindrom Williams

A

Facies de elf
- Nas scurt si angulat superior
- Sant subnazal (nazolabial) lung
- Gura larga
Statura joasa
Dizabilitate intelectuala
Malformatii cardiace (stenoza supravalvulara)
Personalitate vesela/prietenoasa

169
Q

Sindroame de deletie - asocieri boala-deletie

A

Cri-du-chat = 5p (tot bratul)
Wolf-Hirschhorn = 4p16 pana la capat
Prader-Willi = 15q11-15q13 (alela paterna)
Angelman = 15q11-15q13 (alela materna)
Velocardiofacial = 22q11
Williams = 7q11.23

170
Q

I/E sindrom X fragil

A

Fata mare cu maxilar proeminent
Urechi mari
Testicule mari (macroorhidie)
Anomalii usoare de maini si picioare
Dizabilitate intelectuala
Hiperactivitate
Posibil convulsii

171
Q

I/E OMA

A

Durere auriculara cu debut acut
Febra
Eritem MT
MT in tensiune
Lichid in urechea medie
Mobilitate scazuta (otoscopie pneumatica)

172
Q

Complicatii OMA

A

Pierdere auz
Perforatie MT
Mastoidita
Abces temporal

173
Q

I/E scarlatina

A

Febra
Rash difuz eritemato-papular cu aspect de “smirghel”
Limba zmeurie
Descuamare palmo-plantara

174
Q

I/E roseola infantum

A

Febra inalta 3-5 zile inainte de eruptie -> incepe rash + dispare febra
In faza febrila pot aparea convulsii febrile
Macule + papule eritematoase pe
- Fata
- Gat
- Trunchi
- Extremitati proximale

175
Q

I/E rujeola

A

Febra
Tuse
Coriza
Conjunctivita
Rash eritematos - incepe pe scalp, piept, extremitati (respecta fata)
Pete Koplik = leziuni albe spre alb-albastrui in ciorchine pe mucoasa jugala, de obicei in dreptul M2

176
Q

Complicatii rujeola

A

Pneumonie
OMA
Encefalita

177
Q

I/E rubeola

A

Incepe ca IACRS usoara
Febra
Ulterior rash maculopapular - incepe pe fata, apoi merge pe trunchi
Adenopatii posterioare, cervicale, occipitale
Pete Forchheimer = pete rosii, mici pe palatul moale

178
Q

I/E eritem infectios

A

Febra
Stare de rau
Odinofagie
Rash - fata (mai ales obraji = “febra cu obraji palmuiti”)

179
Q

Complicatii eritem infectios

A

Hidrops fetal (expunere i.u)
Anemie aplastica (in special la cei cu siclemie)

180
Q

Factori de risc ITU

A

Varsta < 1 an
T > 39 gr C
Febra > 2 zile
Rasa alba
Sex F
Baieti necircumcisi

181
Q

I/E ITU

A

Febra inalta
Iritabilitate
Varsaturi
Hematurie

182
Q

Complicatii ITU

A

Pielonefrita
Cicatrici renale
Urosepsis

183
Q

I/E tulburari din spectrul autist - interactiuni sociale neadecvate

A

Utilizare deficitara a comportamentelor non-verbale
Esec in a dezvolta relatii cu ceilalti
Esec in a cauta interactiune sociala
Lipsa reciprocitatii sociale

184
Q

I/E tulburari din spectrul autist - comunicare alterata

A

Intarziere in dezvoltarea limbajului
Initiere/sustinere deficitara a conversatiei
Limbaj repetitiv
Contact vizual deficitar
Lipsa jocului imaginativ/imitativ pentru varsta

185
Q

I/E tulburari din spectrul autist - comportament restrictiv

A

Rutine inflexibile
Preocupari cu pattern restrictiv de interes
Manierisme motorii repetitive
Preocupari cu parti din obiecte

186
Q

I/E ADHD inatentie

A

Durata scazuta de atentie
Dificultate in urmarea instructiunilor
Lipsa de griji in indeplinirea sarcinilor
Pierdere usoara a obiectelor
Uitare
Ascultare deficitara
Distragere facila
Dificultate in organizarea activitatii
Evitarea sarcinilor ce necesita concentrare prelungita

187
Q

I/E ADHD hiperactivitate si impulsivitate

A

Foiala
Incapacitate de a ramane asezat mult timp cand este necesar
Constant “pe fuga”
Vorbit excesiv
Dificultate in a-si astepta randul la vorbit
Ii intrerupe pe altii
Raspunde la intrebari inainte ca acestea sa fie terminate

188
Q

Tratament ADHD

A

Terapie comportamentala - prima linie +/- farmacoterapie
Optiuni farmacoterapie
- Atomoxetina
- Psihostimulante = metilfenidat, dexmetilfenidat, amfetamine, dextroamfetamine
- Agonisti alfa2 adrenergici, ADTC - cazuri refractare

189
Q

Tratament sindrom Tourette

A

Terapie comportamentala
Flufenazina, pimozid, tetrabenazina - doze mici
ISRS (SSRI), alfa2 agonisti - tulburari comportamentale asociate

190
Q

Tratament tulburare de conduita

A

Psihoterapie
Psihostimulante - cand se asociaza ADHD
Stabilizatoare ale dispozitiei - cazuri severe