Week 3 Flashcards

(67 cards)

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
Management for ToF
Surgery
26
What is malrotation
When the midgut rotates and fixates in an abnormal position during foetal development
27
Malrotation increases the risk of
Midgut volvulus
28
Presentation of malrotation
Midgut volvulus symptoms -bilious vomit within first day of life -abdominal pain -abdominal distension -constipation and lack of flatulence
29
When do symptoms of malrotation usually present
Within first week of life
30
Investigations for malrotation
Upper GI contrast study
31
What will upper Gi contrast study show if the baby has malrotation
Intestinal obstruction - the contrast will not flow through a part of intestine Proximal bowel may look like a corkscrew
32
Management of malrotation
surgery
33
What is jejunal atresia
Congenital defect resulting in closed / absent part of jejunum
34
How is jejunal atresia different from intestinal stenosis
In jejunal atresia, the lumen is completely blocked whereas in intestinal stenosis, the lumen is there but narrowed
35
Cause of jejunal atresia
Intrauterine ischaemic injury
36
Presentation of jejunal atresia
Bilious vomit Abdominal distension
37
When do symptoms of jejunal atresia usually present
within 24 hours of life
38
Investigations for jejunal atresia
Prenatal ultrasound may detect it Postnatal Xray to confirm it
39
At which trimester can jejunal atresia be detected
3rd trimester
40
What can be seen on Xray for jejunal atresia
Dilated fluid filled bowel loops
41
Management of jejunal atresia
Surgery
42
Complications of jejunal atresia
Intestinal perforation leading to pneumoperitoneum or peritonitis Accumulation of amniotic fluid in aminiotic sac
43
How may jejunal atresia cause accumulation of amniotic fluid in amniotic sac
Because the foetus swallows less fluid due to fluid unable to pass down into intestine
44
Describe the movement of testes during development
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
What is hydrocele
When the fluid from the abdomen accumulate in the scrotum due to patent processus vaginalis
46
From which part of the inguinal canal did the peritoneal sac enter through to cause indirect inguinal hernia
From deep inguinal ring
47
Symptoms of indirect inguinal hernia
Lump on either side of groin Pain when coughing Pain when bending over Pain when crying
48
Management of inguinal hernia
Surgery
49
What is meconium ileum
Bowel obstruction of the distal ileum due to abnormally thick and sticky meconium
50
Meconium ileum is associated with
Cystic fibrosis
51
How does cystic fibrosis cause meconium ileum
Cystic fibrosus causes mucous in the meconium to be excessively thick
52
Symptoms of meconium ileum
No stool passed within 48 hours of life Signs of intestinal obstruction - vomiting / pain / abdominal distention
53
Investigations for meconium ileum
Xray
54
What does Xray show for meconium ileum
Dilated loops of bowels, bubbly appearance (sign of intestinal obstruction) Microcolon
55
Management of meconium ileum
Drip and suck - IV fluids and stomach drainage Enema to remove the stool Surgery if severe
56
When should you start chest compression for a term baby that is not spontaneously breathing and heart rate <40bpm
If after 10 inflation breaths and 30 seconds of ventilation, baby's heart rate is still <60bpm
57
What are the vaccinations required for a 2month old baby
Diphtheria Tetanus Pertussis Polio H influenza type B Hep B Rotavirus Meningitis B
58
What are the vaccinations required for a 1 year old child
H influenza type B Meningococcal group C Pneumococcal MMR Meningococcal group B
59
Describe the milestones of a 6 weeks old
Head control in vertical follows torch with eyes Stills to voice Social smile
60
Describe the milestones of a 3 months old
No head lag on pulling to sit vocalises with familiar person, laughs and coos Reacts pleasurably to familiar situations
61
Describe the milestones of a 6 months old
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
When do babies become anxious around strangers
9 months old
63
Describe the milestones of a 9 months old child
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
Describe the milestones of a 12 months old
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
Describe the milestones of a 2 years old
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
When do children understand sharing and plays with others
3 years old
67
When do children learn how to pedal a tricycle
3 years old