Paediatrics Flashcards

1
Q

mode of inheritance of sickle cell

A

autosomal recessive

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2
Q

mode of inheritance of cystic fibrosis

A

autosomal recessive

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3
Q

mode of inheritance of huntingtons

A

autosomal dominant

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4
Q

mode of inheritance of achondroplasia

A

autosomal dominant

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5
Q

can a male pass on an mitochondrial disease

A

no

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6
Q

give 2 examples of conditions with genetic anticipation

A

huntingtons and myotonic dystrophy

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7
Q

small head and eyes with cleft lip, polydactyly and scalp lesion

A

patau
trisomy 13

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8
Q

small jaw, low set ears, overlapping fingers and rocker bottom feet

A

edwards
trisomy 18

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9
Q

large/long face and ears, large testes, learning difficulties and mitral valve issue

A

fragile x syndrome

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10
Q

short, webbed neck, pectus excavatum, pulmonary stensosis

A

noonan syndrome

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11
Q

small jar, cleft palate, posterior displacement of the tongue

A

pierre-robin syndrome

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12
Q

hypotonia, small tests and constant hunger

A

prader willi

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13
Q

inheritance of prader willi

A

imprinting

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14
Q

short, broad forehead, friendly, learning difficulties, neonatal hyperglycaemia and aortic stenosis

A

williams syndrome

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15
Q

characteristic cry, poor feeding, learning difficulties, small head and jaw with a large gap between the eyes

A

Cri du Chat
chromososmal 5 deletion

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16
Q

short with a shield chest, widely spaced nipples, webbed neck, cystic hygroma, primary amenorrhoea, hypothyroid and lymphoedema

A

turners syndrome

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17
Q

cardiac abnormalities in turners syndrome

A

bicuspid aortic valve, coarctation of the aorta, ejection systolic murmur

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18
Q

What does the APGAR score stand for and how is it calculated

A

Appearance, Pulse, Grimace, Activity, Respiration
0-1-2 in each

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19
Q

compression: ventilation in newborn resuss

A

3 compression to 1 ventilation

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20
Q

compression rate in all infant arrests

A

100-120 bpm

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21
Q

where do you check for a pulse in neonates

A

femoral and brachial

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22
Q

define neonatal death

A

between birth and 28 days

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23
Q

when is the newborn blood spot carried out

A

5-9 days

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24
Q

is it normal for saturations to drop in the first 10 mins of life

A

yes

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25
how does congenital adrenal hyperplasia present
ambiguous genitalia
26
how does cephalohaematoma present
several hours after birth does not cross the suture lines
27
risk factors for SIDS
prone sleeping, smoking, premature, co-sleeping, hyperthermia
28
risk factors for DDH
female, breech, fhx, first born, LWB, oligohydramniosis
29
when is the DDH USS carried out
6w
30
cause of facial defects in neonate
maternal antiepileptic drug use
31
abnormal newborn hearing test
refer for the brainstem one
32
jittery and hypotonic baby
neonatal sepsis
33
what can maternal labetalol use cause
neonatal sepsis
34
management of symptomatic and non-symptomatic neonatal sepsis
no sx: feed and monitor glucose sx: IV 10% dextrose
35
LBW, hearing loss, rash, small head and seziures
congenital CMV infection
36
sensioneural deafness and congenital cataracts
congenital rubella
37
management of hypoxic brain injury
therapeutic cooling
38
bowel sounds in NIPE resp exam
CDH
39
PANSYSTOLIC murmur in the left lower sterrnal border
VSD
40
EJECTION SYSTOLIC murmur in the left upper sternal border
Pulmonary stenosis
41
Continuous diastolic machinery murmur in the left upper sternal border with a collapsing pulse and left subclavicular thrill
Patent ducts arteriosus
42
medication to close PDA
Indomethacin
43
crescendo-decrescendo murmur in left upper sternal border
coarctation of the aorta
44
how does coarctation of the aorta present
circulatory collapse at 2 days when the duct closes heart failure absent femoral pulses
45
name the 5 cyanotic heart diseases
Transposition of the great arteries (loud S2) Tricuspid atresia Truncus arteriosus Total anomalous pulmonary venous return Tetralogy of fallot
46
presentation of ToF
hypercyanotic tet spells and LOC
47
management of cyanotic heart diseases
prostaglandin to maintain the ductus arteriosis
48
continuous blowing below clavicle
venous hum
49
low pitched sound in left lower sterrnum
stills murmur
50
murmurs which vary with posture
ejection murmers
51
cause of ebstein anomaly
atrialisation of RV due to lithium use
52
cardiac abnormality in duchennes
dilated cardiomyopathy
53
most common age for croup
6-12m
54
2 treatments for croup
dexamathasone and nebulised adrenaline
55
benign cause of noisy breathing
laryngomalacia
56
CXR in transient tachypinea of the newborn
hyperinflation and fluid in the fissure
57
3 reasons to admit for bronchiolitis
RR above 60 Dehydration 50-70% reduction in fluid/oral intake
58
what are maternal DM, male, prematurity and c-section risk factors for
surfactant deficiency
59
Causes of meningitis in under 3m and over 3m
Under 3m: GBS, E.coli, Listeria Over 3m: N meningitidis, S, pneumonia (1m-6y also H. influenza)
60
Investigations in meningococcal septicaemia
NO LP culture and viral PCR
61
ABx management of meningitis in under 3m and over 3m
Under 3m: IV amoxicillin and cefotaxmine Over 3m: IV cefotaxime/ceftriaxone
62
Fever then rash with mild systemic upset
chicken pox
63
chicken pox + NSAIDS =
necrotising fascitis
64
prodrome of fever, irritability, conjunctivitis with koplik spots and a rash behind the ears which then spreads
measles
65
2 st and 1 lt complication of measles
st: otitis media and pneumonia lt: encephalitis
66
fever, malaise, muscular pain and parotitis (pain on eating and earache)
mumps
67
complication of mumps (2)
pancreatitis and infertility
68
pink maculopapular rash on face spreading to body with lympadenopathy
rubella
69
lethargy, fever, headache and slapped cheek rash on face to arms
erythema infectiosum
70
virus causing slapped sheek
parvovirus b19
71
feverr, malaise, tonsillitis and strawberry tongue with fine punctate erythema which spares the mouth
scarlet fever
72
cause of scarlet fver
reaction to the toxin from group a strep
73
mils systemic upset, vesicles on the mouth, palms and soles
hand foot and mouth
74
virus causing hand foot and mouth
coksackie A19
75
fever then maculopapular rash that can cause febrile convulsitons
roseola infantum
76
virus causing roseola infantum
herpes 6
77
age for febrile convulsions
6m to 5y
78
cause of epiglottitis
Hib
79
example of an oral and live vaccine
rotavirus
80
most common cause of pneumonia in children
strep
81
abx treatment if suspected mycoplasma pneumonia
erythromycin
82
treatment of threadworm
single dose of mebendazole for whole family no school exlcusion
83
treatment for threadworm
single dose of mebendazole for whole family no school exclusion
84
5 day of fever with conjunctivitis, cracked lips, strawberry tongue, lymphadenopathy and peeling palms and soles
kawasaki disease
85
treatment for kawasaki
aspirin and IV ig
86
why do you need an ECHO in kawasaki
coronary artery aneurysm
87
school exclusion for scarlet fever
24 hours after starting abx (penv)
88
school exclusion for whooping cough
2 days after starting abx or 21 days from sx abx = macrolide
89
school exclusion for measles
4 days from rash onset
90
school exclusion for rubella
5 days from rash onset
91
school exclusion for chicken pox
all lesions crusted (usually 5 days)
92
school exclusion for mumps
5 days from gland swelling
93
school exclusion for impetigo
lesions crusted/48 hours after abx abx - hydrogen peroxide
94
school exclusion for scabies
until treated
95
school exclusion for influenza
until recovered
96
school exclusion for roseola infantum
no exclusion
97
viral infection followed by joint pain
transient synovitis
98
10-15 year old who is obese presenting with hip and groin pain and reduced internal rotation
SUFE xray
99
4-8 years with worsening hip pain
Perthe's
100
what is perthes
Avascular necrosis of the femoral head
101
treatment of perthes
x ray under 6 observe over 6 surgerry
102
are bow legs in a child under 3 normal
yes
103
child with an acute limp
urgent assessment for septic arthritis
104
what are the kocher criteria
to assess if pain is due to septic arthritis 1. non weight bearing 2. fever above 38.5 3. increased WCC 4. ESR
105
widening of the wrist joints with low calcium and phosphate but high ALP and PTH
rickets
106
4 classifications of cerebral palsy
spastic dyskinetic ataxic mixed
107
damage to UMN causing hemi, di or quadraplegia
spastic cerebral palsy
108
damage to the basal ganglia or substantia nigra causing athetoid movements and oro-motor issues
dyskinetic cerebral palsy
109
damage to the cerebellum causing cerebellar signs
ataxic cerebral palsy
110
medication for spastic cerebral palsy
baclofen
111
repeated flexion of head/arms/trunk followed by extension of the arms
infantile spasms
112
partial seizures at night
benign rolandic epilepsy
113
seizures with a rapid recovery
reflex anoxic seizures
114
unilateral occipital flattening with protruding ear
plagiocephaly improve by 3-5y
115
fever and RIF pain which can present atypically
actute appendicitis
116
urine dip in appendicitis
positive protein and leukocytes
117
central abdo pain after a viral URTI
MESENTERIC ADENITIS
118
management of mesenteric adenitis
self-limiting - conservative
119
abo distention with bilious vomiting and bilious stool with blood at 2w old
necrotising enterocilitis
120
RF for nec
prematurity and ABx use
121
management of NEC
xray showing free air and dilated bowels total gut rest with TPN and broad spectrum abx perforation requires laparotomy
122
abdominal distention, delayed meconium and bilious vomiting
Hirschsprungs disease
123
management of hirschsprungs
RECTAL BIOPSY and wash outs
124
what is hirschsprungs
absence of ganglion cells
125
abdo distention and delayed meconium 24-48 hours after birth
meconium ileus
126
RF for meconium ileus
cystic fibrosis
127
management of meconium ileus
PR contrast study which can dislodge the clot NG N-acetylcysteine surgical removal
128
bilious vomiting and obstruction with haemodynamic instability at 3-7 days
Intestinal malrotation
129
RF for intestinal malrotation
exomphalus, congenital diaphragmatic hernia and duodenal atresia
130
USS for intestinal malrotation
Whirlpool sign
131
management of intestinal malrotation
Ladd's procedure
132
choking and cyanotic spells associated with polyhydramnios
oesophageal atresia
133
jaundice, reduced growth and feeds, pale stool, dark urine at 14 days
biliary atresia
134
bilirubin in biliary atresia
increased conjugated (cholestatic picture)
135
management of biliary atresia
urgent kasai procedure
136
bilious vomiting hours after birth
duodenal atresia
137
xray in duodenal atresia
double bubble sign
138
when does ilieal atresia present
24 hours after birth
139
management of ileal atresia
xray shows free air laparotomy
140
projectile vomiting at 4-6w with a palpable mass
pyloric stenosis
141
2 investigations for pyloric stenosis
hypochloraemic hypokalaemic metabolic acidosis USS
142
management of pyloric stenosis
ransted and pyloromyotomy
143
2 RF for pyloric stenosis
male and FHx
144
colicky pain with D+V, sausage shaped mass and red jelly stool at 6-9m
Intusussception
145
what is intussusception
telescoping bowel proximal to the ileocaecal valve
146
management of intissusception
reduction and air
147
number one cause of a painless massive GI bleed in 1-2 years
meckels diverticulum
148
management of meckels diverticulum
transfusion and technetium scan if stable
149
management of exomphalos
c-section and staged repair
150
RF for gastroscisis
socioeconomic deprivation (smoking, alcohol and materal age under 20)
151
difference between exomphalos and gastroscisis
gastroscisis is paraumbilical exomphalos is umbilical
152
presentation and treatment of transient lactose intolerrance
common after viral gastroenteritis remove lactose and slowly re-introduce
153
management of GORD
1-2w of alginate then 4w of PPI if reduced feeding and growth
154
management of CMPA
extensively hydrolysed formula
155
first line management of constipation
osmotic laxative (movicol) then trial a senna
156
management of inguinal hernia in infants
immediate surgery
157
management of umbilical hernia
normally self resolve no resolution then - small and no sx: repair at 4-5y - large and sx: repair at 2-3 y
158
red growth of umbilical tissue which is wet and leaking fluid
umbilical granuloma
159
jittery baby with increased tone, hyperreflexia, convulsions, drowsiness and coma
hypernatremic dehydration
160
feature of achondroplasia
trident hands
161
what is phimosis
non-retractable foreskin self-resolve by 2y
162
management of enuresis
alarm then desmopressin
163
3 complications of undescended testes
infertility, torsion and cancer
164
management of unilateral undescended testicle
review at 3m and repair if persistenet
165
ventral urethral meatus and hooded prepuce
hypospadias
166
one contraindication to circumcision
hypospadias - use the foreskin in the repair
167
painless haematuria with painless palpable mass, reduced appetite and distended abdomen
Wilms tumour
168
6 indications of an atypical UTI
reduced urine flow, mass, increased creatinine, non E coli, septic or no abx response
169
investigation for reflex nephropathy
micturating cystography
170
scan for vesicoureteral reflux
DMSA scan
171
UTI in less than 3m
refer
172
management of UTI
3 day abx
173
association with cystic fibrosis
diabetes mellitus
174
hepatosplenomegaly with bruising and anaemia
ALL
175
age ALL peaks
2-5y
176
condition associated with ALL
downs
177
poor prognostic indicator in ALL
male
178
signs of anaemia in ALL
soft systolic murmur and SOB
179
presentation of ITP
isolated thrombocytopenia preceded by viral illness with fever and pectichae
180
schistocytes on blood film
ITP
181
treatment of ITP
conservative
182
anaemia in alpha thalassemia
hypochromic microcytic anaemia
183
3 types of alpha thalassemia
1/2 alleles: anaemia with normal hb 3 alleles: anaemia with splenomegaly 4 alleles: death in utero (hydrops fetalis)
184
what is hydrops fetalis
oedema in foetus
185
what is alpha thalassemia
reduction in alpha chains
186
normal puberty in males
testicular growth at 10-15y growth spurt at 14y
187
normal puberty in females
breast development at 9-13y growth spurt at 12y menarche at 11-15y
188
define precocious puberty
secondary sexual characteristics before 8y in girls and 9y in boys
189
management of children below the 0.4th centile
refer
190
medication for ADHD
methylphenidate - monitor growth
191
consent for sex
under 13 no consent
192
triad in shaken baby syndrome
retinal haemorrhages subdural haematoma encephalopathy
193
3 main fractures in abuse
radial humeral femoral
194
eczema in 10m
face and trunk
195
what is cradle cap and how does it present
seborrheic dermatitis red rash with yellow flakes
196
presentation and treatment of pityriasis rosea
pink/red scaly patches on abdomen self-limiting
197
presentation and treatment of pityriasis versicolour
fungal infection from the sub ketonozole
198
nappy rash candida or dermatitis
flexors spared: dermatitis flexors affected: candida
199
overview the causes of precocious puberty