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Y2 Child Health > Week 3 > Flashcards

Week 3 Flashcards

1
Q

What genetic mutation causes Turner’s syndrome

A

45 XO - completely / partially missing a X chromosome in females

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2
Q

Which gender does Turner syndrome affect

A

Only females

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3
Q

Signs and symptoms of Turner syndrome

A

Short stature
Webbing of neck
Cubital valgus
Low posterior hairline
Late or absent puberty
Poor growth and development
Widely spaced nipples

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4
Q

Turner syndrome associated conditions

A

Coarctation of the aorta
Infertility
Premature ovarian failure
Osteoporosis
Hypertension
Hypothyroidism
Diabetes
Recurrent otitis media
Hearing loss
Learning disabilities ADHD

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5
Q

Investigations for Turner syndrome

A

Karyotype analysis (can be done antenatal)

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6
Q

Management for Turner syndrome

A

Growth hormone therapy
Oestrogen and Progesterone therapy
Fertility treatment

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7
Q

What can oestrogen and progesterone therapies help females with Turner syndrome

A

Induce regular menstrual cycle
Induce breast development
Reduce risk for osteoporosis

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8
Q

What should be monitored regularly in a patient with Turner syndrome

A

Blood pressure
Thyroid function
LH/FSH level

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9
Q

What LH/FSH level would suggest premature ovarian failure

A

High LH/FSH

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10
Q

What is tetralogy of fallot

A

Cyanotic disease comprising 4 defects
1. VSD
2. Pulmonary Stenosis
3. Overriding aorta
4. Right ventricular hypertrophy

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11
Q

What syndromes are associated with ToF

A

Down syndrome
DiGeorge syndrome

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12
Q

What is pulmonary stenosis

A

Narrowing of the pulmonary valve

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13
Q

What is overriding aorta

A

When the aorta is placed right above the VSD instead of the left ventricle.
This causes the aorta to receive some blood from the left ventricle

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14
Q

How does ToF cause cyanosis

A
  1. VSD causes mixing of deoxygenated and oxygenated blood
  2. Pulmonary stenosis makes it hard to pump deoxygenated blood into pulmonary artery
  3. Pulmonary stenosis + VSD + overriding aorta causes the deoxygenated blood that is not pumped into the pulmonary artery to be pumped into left ventricle via VSD
  4. so more deoxygenated blood goes into the overriding aorta = cyanosis
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15
Q

What type of shunt does pulmonary stenosis + overriding aorta create

A

Right to left shunt (deoxygenated blood from the right goes into the left)

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16
Q

Onset of symptoms in mild ToF

A

asymptomatic till 1-3 years old

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17
Q

Onset of symptoms in moderate - severe ToF

A

Cyanosis within first few weeks of life

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18
Q

What other defects may ToF present with

A

Pulmonary atresia
Absent pulmonary valve

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19
Q

Onset of symptoms in ToF + pulmonary atresia / absent pulmonary valve

A

Cyanosis within first few hours of life

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20
Q

Symptoms of ToF

A

Cyanosis
Respiratory distress
Thrill
Heave
Finger clubbing
Murmur

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21
Q

What does heave feel like

A

Abnormally large beating of the heart

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22
Q

Which condition is heave associated with

A

right ventricular hypertrophy

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23
Q

Investigations for ToF

A

Pulse oximetry
Echo
ECG
CXR

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24
Q

What may be seen on ECG in a patient with ToF

A

Right ventricular hypertrophy

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25
Q

Management for ToF

A

Surgery

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26
Q

What is malrotation

A

When the midgut rotates and fixates in an abnormal position during foetal development

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27
Q

Malrotation increases the risk of

A

Midgut volvulus

28
Q

Presentation of malrotation

A

Midgut volvulus symptoms
-bilious vomit within first day of life
-abdominal pain
-abdominal distension
-constipation and lack of flatulence

29
Q

When do symptoms of malrotation usually present

A

Within first week of life

30
Q

Investigations for malrotation

A

Upper GI contrast study

31
Q

What will upper Gi contrast study show if the baby has malrotation

A

Intestinal obstruction - the contrast will not flow through a part of intestine
Proximal bowel may look like a corkscrew

32
Q

Management of malrotation

A

surgery

33
Q

What is jejunal atresia

A

Congenital defect resulting in closed / absent part of jejunum

34
Q

How is jejunal atresia different from intestinal stenosis

A

In jejunal atresia, the lumen is completely blocked whereas in intestinal stenosis, the lumen is there but narrowed

35
Q

Cause of jejunal atresia

A

Intrauterine ischaemic injury

36
Q

Presentation of jejunal atresia

A

Bilious vomit
Abdominal distension

37
Q

When do symptoms of jejunal atresia usually present

A

within 24 hours of life

38
Q

Investigations for jejunal atresia

A

Prenatal ultrasound may detect it
Postnatal Xray to confirm it

39
Q

At which trimester can jejunal atresia be detected

A

3rd trimester

40
Q

What can be seen on Xray for jejunal atresia

A

Dilated fluid filled bowel loops

41
Q

Management of jejunal atresia

A

Surgery

42
Q

Complications of jejunal atresia

A

Intestinal perforation leading to pneumoperitoneum or peritonitis
Accumulation of amniotic fluid in aminiotic sac

43
Q

How may jejunal atresia cause accumulation of amniotic fluid in amniotic sac

A

Because the foetus swallows less fluid due to fluid unable to pass down into intestine

44
Q

Describe the movement of testes during development

A
  1. Testes are formed in the posterior abdominal wall hence it needs to migrate and descend to where future scrotum is at
  2. To do this, it passes down via inguinal canal which is originally lined by processus vaginalis and abdominal musculature
  3. Processus vaginalis normally degenerates but if it doesn’t -> hydrocele / indirect inguinal hernia
45
Q

What is hydrocele

A

When the fluid from the abdomen accumulate in the scrotum due to patent processus vaginalis

46
Q

From which part of the inguinal canal did the peritoneal sac enter through to cause indirect inguinal hernia

A

From deep inguinal ring

47
Q

Symptoms of indirect inguinal hernia

A

Lump on either side of groin
Pain when coughing
Pain when bending over
Pain when crying

48
Q

Management of inguinal hernia

A

Surgery

49
Q

What is meconium ileum

A

Bowel obstruction of the distal ileum due to abnormally thick and sticky meconium

50
Q

Meconium ileum is associated with

A

Cystic fibrosis

51
Q

How does cystic fibrosis cause meconium ileum

A

Cystic fibrosus causes mucous in the meconium to be excessively thick

52
Q

Symptoms of meconium ileum

A

No stool passed within 48 hours of life
Signs of intestinal obstruction - vomiting / pain / abdominal distention

53
Q

Investigations for meconium ileum

A

Xray

54
Q

What does Xray show for meconium ileum

A

Dilated loops of bowels, bubbly appearance (sign of intestinal obstruction)
Microcolon

55
Q

Management of meconium ileum

A

Drip and suck - IV fluids and stomach drainage
Enema to remove the stool
Surgery if severe

56
Q

When should you start chest compression for a term baby that is not spontaneously breathing and heart rate <40bpm

A

If after 10 inflation breaths and 30 seconds of ventilation, baby’s heart rate is still <60bpm

57
Q

What are the vaccinations required for a 2month old baby

A

Diphtheria
Tetanus
Pertussis
Polio
H influenza type B
Hep B
Rotavirus
Meningitis B

58
Q

What are the vaccinations required for a 1 year old child

A

H influenza type B
Meningococcal group C
Pneumococcal
MMR
Meningococcal group B

59
Q

Describe the milestones of a 6 weeks old

A

Head control in vertical
follows torch with eyes
Stills to voice
Social smile

60
Q

Describe the milestones of a 3 months old

A

No head lag on pulling to sit
vocalises with familiar person, laughs and coos
Reacts pleasurably to familiar situations

61
Q

Describe the milestones of a 6 months old

A

Pushes up on arms, can roll from stomach to back
weight bears on legs
Transfer objects hand to hand
palmar grasp
Mouths objects
Babbles - mamama
Screams
Friendly with strangers
Plays with feet

62
Q

When do babies become anxious around strangers

A

9 months old

63
Q

Describe the milestones of a 9 months old child

A

Sits well
Leans forward to reach toys
May crawl
Can point
Pick up tiny objects
babbles - ahgahahgah
Imitates sounds
Anxious around strangers
Plays peek a boo

64
Q

Describe the milestones of a 12 months old

A

Cruises around furniture
Take first step
Bangs toys together
Knows and responds to name
Jargon vowels and consonants
Drinks from cup
Waves bye bye

65
Q

Describe the milestones of a 2 years old

A

Ascends and descends stairs 2 feet per tread
throw ball overhead
Build tower 6-7 blocks
50+ words
Talks to self
Understand simple instructions
Puts on hat and shoes
Symbolic play

66
Q

When do children understand sharing and plays with others

A

3 years old

67
Q

When do children learn how to pedal a tricycle

A

3 years old

Y2 Child Health (3 decks)

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