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Phase 3a - Arun&Erin > Paeds - MSK, Genetics, Haem > Flashcards

Paeds - MSK, Genetics, Haem Flashcards

1
Q

What causes klinefelters syndrome

A

When a male has an additional X chromosome
-so they are XXY

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2
Q

Give 6 Features of klinefelters syndrome (9)

A
  • taller height - lack of testosterone to help growth plates fuse
  • wider hips
  • gynocomastia
  • small testicles
  • weaker muscles
  • reduced libido
  • infertility - lack of testosterone
  • shyness
    -subtle learning difficulties
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3
Q

Mx of klinefelters

A

No treatment

  • testosterone injections
  • advanced IVF techniques
  • breast reduction surgery

MDT input
-speech and language therapy
-occupational therapy
-physiotherapy for muscles
-educational support for learning difficulties

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4
Q

What is there an increased risk of in klinefelters (4)

A

-breast cancer in males
-osteoporosis
-diabetes
-anxiety and depression

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5
Q

How is Down’s syndrome caused

A

Three copies (trisomy) of chromosome 21

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6
Q

What features are common for people with Down’s syndrome

A

-hypotonia
-brachycephaly - small head and flat back
-short neck
-short
-flattened face
-prominent epicanthic folds
-single palmar crease
-upward sloping palpebral fissures

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7
Q

Complications associated with Down’s syndrome

A
  • learning disabilities
  • recurrent otitis media
  • deafness
  • visual problems
  • hypothyroidism
  • cardiac defects - PDA, ASD, VSD
  • leukemia
  • dementia
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8
Q

What are the antenatal tests offered to women for Down’s syndrome in the foetus

A

ALL women are offered screening

Combined test - 1st line As most accurate 11-14 weeks gestation

Triple test - performed between 14-20 weeks gestation

Quadruple test - performed between 14-20 weeks gestation

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9
Q

What does the combined test consist of?

A

-ultrasound - measuring nuchal translucency (thickness of back of foetus neck should be less than 6mm)

-maternal blood tests
Beta HCG - higher result mean higher risk
Pregnancy associated plasma protein A - lower result indicated a greater risk

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10
Q

What is the triple test for Down’s syndrome

A

During 14-20 weeks gestation involves:
-BETA HCG - higher means greater risk
-Alpha feta protein - lower means greater risk
-serum oestriol - lower result indicates greater risk

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11
Q

What does the quadruple test for Down’s syndrome measure

A

Same as triple test
Beta HCG
Alpha feta protein
Serum oestriol
+
Inhibin A - higher means greater risk

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12
Q

How can you test for Down’s syndrome antenatally (in the womb)

A

Chronic villus sampling - can only be done before 15 weeks

Amniocentesis

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13
Q

Mx of Down’s syndrome

A

management would involve members of the multidisciplinary team
E.g
-GP
-paediatrician
-SALT
-physiotherapy
-optician
-ENT specialist and audiologist
-social services
-cardiologist

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14
Q

What regular follow up investigations are important for children with Down’s syndrome

A

-regular thyroid checks
-ECG
-Audiometry for hearing impairment
-eye checks

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15
Q

What is turners syndrome

A

When a female has a single X chromosome sp they are 45 X0 (0 is the empty space)

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16
Q

Features of turners syndrome

A

-short **
-webbed neck**
-cubitus valgus (outward angulation of elbow)
-high arching palate
-downward sloping eyes with Ptosis
-broad chest and wide spaced nipples
-underdeveloped ovaries
-late puberty
-infertility

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17
Q

What is cubitus valgus

A

Abnormal feature of elbow. Forearm angled away from body when elbow extended out

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18
Q

Mx of turners

A

No cure

-growth hormone therapy for shortness
-oestrogen and progesterone to help female sex characteristics
-fertility treatment

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19
Q

Give 6 Associated condition with turners syndrome

A

-recurrent otitis media
-recurrent UTI
-coarctation of aorta
-HTN
-Hypothyroidism
-obesity
-diabetes
-osteoporosis
-learning disabilities

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20
Q

What is Prader willi syndrome

A

Genetic condition caused by the loss of functional genes on the proximal arm of chromosome 15 inherited paternally

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21
Q

What are 6 features of prader willi syndrome

A

-constant insatiable hunger
-poor muscle tone as an infant (hypotonia)
-learning disability
-hypogonadism
-softer and fairer skin
-almond eyes
-strabismus
-narrow forehead
-downturned mouth
-thin upper lip

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22
Q

Management of prader willi syndrome

A

-growth hormone to improve muscle development

Supportive
-dietician - normal calorie intake
-education support
-physio
-psychologists

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23
Q

What is noonan syndrome

A

Genetic condition usually autosomal dominant associated with multiple genes causing notable abnormalities in the face and heart

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24
Q

Features of noonan syndrome

A

Short stature
Broad forehead
Downward sloping eyes with ptosis
hypertelorism (wide space between the eyes)
Prominent nasolabial folds
Low set ears
Webbed neck
Widely spaced nipples

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25
Q

What are the associated conditons with noonan syndrome

A

-CHD particularly Pulmonary valve stenosis, ASD
-cryptorchidism
-learning disability
-lymphoedema
-increased risk of leukaemia & neroblastoma

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26
Q

What is angelman syndrome

A

Genetic condition caused by the loss of function of the UBE3A gene on chromosome 15 inherited from the mother

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27
Q

What are the three characteristic features of angelmans syndrome

A

-fascination with water
-Happy demeanour
-widely spaced teeth

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28
Q

What gene and chromosome is affected in angelmans syndrome

A

UBE3A gene on chromosome 15 on maternal side

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29
Q

Give 7 features of angelmans syndrome

A

-delayed development
-severe delayed speech abscence
-inappropriate laughter
-microcephaly- small head
-epilepsy
-abnormal sleep patterns
-ADHD
-Ataxia
-wide mouth And spaced teeth
-water fascination
-happy demenour

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30
Q

Mx of angelmans syndrome

A

NO CURE needs MDT approach

-parental education
-social support
-educational support
-physio - for ataxia
-occupational therapy
-Psychology
-anti epileptic mediation

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31
Q

What is Williams syndrome

A

A genetic condition caused by random deletion affecting the genetic material on one copy of chromosome 7.

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32
Q

Features of Williams syndrome, including the main three

A
  • elfin facies - broad forhead, wide spaced eyes, long philtrum, small chin
    -starburst eyes
    -sociable and trusting personality
    -wide mouth and widely spaced teeth
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33
Q

Associated conditions with Williams syndrome (4)

A

-hypertension
-hypercalceamia
-supraclavicular aortic stenosis
-ADHD

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34
Q

Mx of Williams syndrome

A

MDT approach
-SALT
-ECGs and BP monitoring to monitor for aortic stenosis
-low calcium diet to control hypercalceamia

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35
Q

How do you diagnose Williams syndrome

A

FISH study for micro deletion on chromosome 7
- test that looks for gene changes in cells

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36
Q

What is fragile X syndrome

A

A syndrome caused by a mutation in the FMR1 (fragile X mental retardation 1protein) on the X chromosome that plays a role in brain development

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37
Q

Which gender is affected more by fragile X syndrome and why?

A

Males are always affected due to XY

Females it can have varying affects because they have a spare normal copy of FMR1 gene on other X chromosome (XX)

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38
Q

Features of fragile X syndrome

A

-delay in speech And language development
-intellectual disability
-long, narrow face
-large testicles
-hyper mobile joints
-ADHD
-autism
-seizures

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39
Q

Mx of fragile X syndrome

A

-NO cure - management is supportive

-MDT approach to support:
-learning disability
-manage autism and ADHD
-treat seizures

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40
Q

What is patau syndrome also known as

A

Trisomy 13

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41
Q

Clinical features of patau syndrome

A

CRAMMPS

-hypotonia
-low forming ears

C- Cleft lip / palate
R- Renal abnormalities
A- ASD (cardiac defects)
M- Microcephaly
M- Mental retardation
P- Polydactyly

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42
Q

Diagnosis of pataus syndrome

A

-genetic testing - amniocentesis
-prenatal ultrasounds

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43
Q

Management of Pataus syndrome

A

Educational support
SALT
Surgery to repair physical abnormalities (rare within first months)

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44
Q

What is muscular dystrophy

A

A name for a group of conditions that cause gradual weakening and wasting of muscles

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45
Q

Give 4 of the muscular dystrophies

A

-duchennes muscular dystrophy
-beckers muscular dystrophy
-myotonic dystrophy
-emery dreifuss muscular dystrophy
-Oculopharyngeal muscular dystrophy
-Limb-girdle muscular dystrophy
-facioscapulohumeral muscular dystrophy

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46
Q

What is Gowers sign

A
  • a clinical finding in children with proximal muscle weakness

-where they they get onto their hands and knees and push their hips up and backwards and walk their hands up in order to stand

-most probably due to duchennes muscular dystrophy

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47
Q

What is the cause of duchennes muscular dystrophy

A

Defective gene for Dystrophin on the X chromosome

Dystrophin usually hold muscles together at a cellular level

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48
Q

What inheritance pattern is duchennes

A

X linked recessive

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49
Q

Management of Duchennes

A

Oral steroids - slow down progression of muscle weakness
Creatine - shown to improvise muscle strength

General muscular dystrophy Mx
-occupational therapy
-physiotherapy
-wheelchair use
-surgical treatment of associated heart failure/ scoliosis

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50
Q

What is the beckers muscular dystrophy

A

-dystrophin gene is less severely affected than duchennes
-clinical course less predictable

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51
Q

Myotonic dystrophy typical features (4)

A

Progressive muscle weakness

Prolonged muscle contractions e.g not able to let go of someone’s hand after shaking it

Cataracts

Cardiac arrhythmias

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52
Q

What is oculopharyngeal muscular dystrophy

A

-muscular dystrophy in the ocular muscles and pharynx

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53
Q

How does Oculopharyngeal Muscular Dystrophy present

A

Bilateral ptosis
Restricted eye movement
Swallowing problems
Some degree of limb weakness

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54
Q

Facioscapulohumeral Muscular Dystrophy presentation

A

-Weakness around face then progressing to the shoulders and arms

-sleeping with eyes slightly open

-weakness in pursing their lips

-unable to blow out their cheeks without air leaking out

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55
Q

How does emery dreifuss dystrophy usually present

A

Presents in childhood with contractures in elbows and ankles

Progressive weakness and wasting of muscles starting with upper arms and lower legs

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56
Q

What are contractures

A

Shortening of muscles and tendons that restrict range of movement of limbs

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57
Q

What is perthes disease

A

A disease causing disrupted blood supply to the head of the thigh bone causing avascular necrosis of the femoral epiphysis

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58
Q

Risk factors for perthes disease

A

-male gender
-Caucasian
-passive smoking
-deprivation
-obesity
-low birth weight

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59
Q

Clinal features of perthes disease

A

-atraumatic hip pain and limp (antalgic gait)
-activity worsens it
-tendellenburg gait - due to weak hip flexor

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60
Q

Investigations for perthes disease

A

First line -pelvic X rays
-increasing reduction in size and lucency of the epiphysis
-joint effusion
-fragmentation of epiphysis at later stages

Second line - MRI

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61
Q

Management of perthes diseases

A

Often resolves without tx

Symptomatic and Pain relief
-restrict weight bearing activities

Regular x -rays

Physiotherapy

Surgery
-osteotomy - to improve alignment

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62
Q

What is osteogenesis imperfecta

A

A genetic condition affecting formation of collagen resulting in brittle bones that are prone to fracture

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63
Q

Presentation of osteogenesis imperfecta

A
  • recurrent and inappropriate fractures
  • hyper mobility
  • blue/ grey sclera
  • triangular face
  • short stature
    -deafness from childhood
  • joint and bone pain
    -dental problems - malformation of teeth
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64
Q

How is osteogenesis imperfecta diagnosed

A

X -rays
Genetic testing
Dermal fibroblast culture - abnormal collagen

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65
Q

Mx of osteogenesis imperfecta

Medications
MDT

A

NO cure

Prevention of fracture
-bisphosphonates - increase bone density
-vitamin D supplements - prevent deficiency

MDT approach
-physio
-occupational therapy
-ortho surgeons to manage fractures
-specialist nurses
-social workers

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66
Q

What is transient Synovitis

A

Temporary irritation and inflammation in the synovial membrane of the joint

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67
Q

What is transient synovitis commonly associated with

A

Viral upper respiratory tract infection

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68
Q

Presentation of transient synovitis

A

Often occur few weeks after viral illness
Limp
Refusal to weight bear
Groin or hip pain
Mild or low grade temperature

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69
Q

Mx of transient synovitis

A

-Simple analgesia
-exclude septic arthritis
-if they develop a fever send to A and E

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70
Q

What is osgood schlatters disease

A

Inflammation at the tibial tuberosity where the patella ligament inserts.
Common in adolescents

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71
Q

Is osgood schlatters typically unilateral or bilateral

A

Unilateral

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72
Q

Pathophysiology of osgood schlatters

A

-patella tendon inserts at tibial tuberosity at epiphyseal plate

-Stress from running, jumping and other movements at the same time as growth in the epiphyseal plate result in inflammation on the tibial epiphyseal plate

  • avulsion fractures can then lead to visible lump below the knee which can be tender
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73
Q

Presentation of osgood schlatters

A

Gradual onset of :
-Visible or palpable hard and tender lump at the tibial tuberosity

-Pain in the anterior aspect of the knee

-The pain is exacerbated by physical activity, kneeling and on extension of the knee

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74
Q

Mx of osgood schlatters

A

Initial Managment to reduce pain and inflammation:
-Reduction in physical activity
-Ice
-NSAIDS (ibuprofen) for symptomatic relief

Once settled Can do stretching and physio

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75
Q

What is rickets

A

A condition affecting children where there is defective bone mineralisation causing soft deformed bones
-in adults it is called osteomalacia

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76
Q

Causes of rickets

A
  • Deficiency in vitamin D / calcium can be due to poor diet or genetics
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77
Q

What is the hereditary form of rickets called and how is it inherited

A
  • Hypophosphataemic rickets
  • X linked dominant
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78
Q

Bone deformities seen in rickets (5)

A

Bowing of legs - curve outwards

Knock knees - curve inwards

Rachitic rosary - ribs expands at costochondral junctions causing beads in the chest

Craniotabes - soft skull

Delayed teeth - under development of enamel

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79
Q

Presentation of rickets

A

May be ASX

-lethargy
-bone pain
-swollen wrists
-bone deformity
-poor growth
-muscle weakness
-abnormal fractures

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80
Q

Risk factors for rickets (5)

A

Things that can cause vitamin D deficiency
-dark skin
-lives northern latitudes where there is less sun
-lots of time indoors
-premature birth
-medical condtions - IBD, CF, coeliac due to malabsorption of vitamin D

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81
Q

Ix for rickets (8)

A

Serum 25 hydroxyvitamin D - less than 25 nmol/L

X-ray - may show radiolucent bones (osteopenia)

Serum calcium - low
Serum phosphate - low
Serum ALP - high
PTH - high

Malabsorption screen - anti TTG (coeliac) , autoimmune tests- for IBD
Kidney function test
TFT
FBC
ferritin - aneamia
CRP and ESR
LFT

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82
Q

Management of rickets

A

Prevention
- breastfed babies - given formula feed with fortified vitamin D, mothers given b vitamin D supplements

Children with vitamin D deficiency
-ergocalciferol - 6000IU pd

Children with rickets
-refer to paediatrician
-calcium and vitamin D supplements

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83
Q

What is osteomyelitis

A

Osteomyelitis refers to inflammation in a bone and bone marrow, usually caused by bacterial infection.

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84
Q

What is haematogenous osteomyelitis

A

when a pathogen is carried through the blood and seeded in the bone. This is the most common mode of infection

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85
Q

What is direct contamination osteomyelitis example

A

at a fracture site where bacteria can enter through

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86
Q

Most common bacterial cause of osteomyelitis

A

Staphylococcus aureus

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87
Q

Risk factors for osteomyelitis (6)

A

Open fractures

Orthopaedic operations, particularly with prosthetic joints

Diabetes, particularly with diabetic foot ulcers

Peripheral arterial disease

IV drug use

Immunosuppression

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88
Q

Presentation of osteomyelitis (4)

A

Fever
Pain and tenderness
Erythema
Swelling

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89
Q

Investigations of osteomyelitis

A

X rays
- periostea reaction - changes to bone surface
- localised osteopenia - thinning
- destruction

US guided aspiration - for MC+S

MRI - best imaging investigation

Blood tests - WBC, CRP and ESR raised

Blood cultures - causative organism

Bone cultures

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90
Q

Mx of osteomyelitis

A

-Antibiotic therapy

Acute cases:
- 6 weeks - flucloxacillin (+ Rifampicin/fusidic acid for first 2 weeks)
Clindamycin/ vancomycin if Penecillin allergy

Chronic cases - 3 months + of antibiotics

Surgical - debridement and drainage

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91
Q

What is developmental dysplasia of the hip

A

A conditon where there is structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy

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92
Q

What two things can occur due to DDH

A

Subluxation - partial dislocation
Dislocation

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93
Q

Risk factors for DDH (5)

A

-first degree FHx of DDH
-breech presentation (born feet first)
-multiple pregnancy (due to crowding in the foetus)
-oligohydramnios
-female

94
Q

How is DDH picked up

A

During the newborn examination and 6-8 week

95
Q

What are the two special tests used to identify DDH

A

Ortolani test
Barlow test

96
Q

What is ortalani test

A

-baby on their back
-hips and knees flexed
-palms placed on baby’s knees and gently abduct the hips
-apply pressure behind the legs with fingers to see if hips dislocate anteriorly

97
Q

What is barlows test

A

-baby on their back
-hips adducted and flexed
-knees flexed
-put downward pressure placed on knees through the femur
-see if femoral head will dislocate posteriorly

98
Q

What are some findings upon examination that may indicate DDH (5)

A

-different leg lengths
-difference in knee level when hip flexed
-restricted hip abduction on one side
-bilateral restriction in abduction
-clunking of the hips on the special tests

99
Q

How do you diagnose DDH

A

Ultrasound scan of hips

-in older infants can use x ray

100
Q

Mx of DDH

A

Below 6 months - Pavlik harness
-keeps baby in hip flexion and abduction
-holds femoral head in the acetabulum allowing for correct growth and normal shape

After 6 months or harness failure - surgery to realign the hip

101
Q

How long is pavlik harness used for

A

Permanently for 6-8 weeks

102
Q

What is septic arthritis

A

Infection of joint that is a medical emergency and can leaf systemic illness

103
Q

What are the main causative organisms of septic arthritis in children/teens

A

S.aureus is the main pathogen

Others:
Nisseria gonorrhoea - think especially is sexually active teenagers
Group A strep
H.influenza
E.coli

104
Q

Most common joint affected in septic arthritis

A

Knee most common Also:
Hip
Ankles

105
Q

DDX of septic arthritis

A

Hip - transient synovitis, perthes, Psoas abscess, osteomyelitis

Knee - osteomyelitis, gout, psuedogout

General - cellulitis, HSP, reactive arthritis

106
Q

Signs and symptoms of septic arthritis

A

-decreased range of movements in that joint
-hot, warm, swollen joint
-inability to weight bear
-fever
-lethargy

107
Q

Ix for septic arthritis

A

Bloods - FBC, ESR, CRP
X-ray of joint - widened joint space (effusion), erosive signs
Joint aspiration - send for MC+S
LP - if haemophilias influenza due to increase meningitis risk

108
Q

Tx for septic arthritis

A

Urgent admission to hospital
-IV ABX - for 3 weeks - oral ABX for 4-6 weeks

-surgical - irrigation and debridement of joint

-splintage - to allow inflammation to settle

-physio to avoid stiffness

109
Q

What antibiotics are used for septic arthritis for:
first line
If there is a penecillin allergy
If MRSA
Neisseria gonorrhoea

A

1st line - Flucloxacillin

Penicillin allergy - clindamycin

MRSA - vancomycin

Neisseria gonorrhoea - Ceftriaxone

110
Q

Complications of septic arthritis

A

Chondrolysis
Bone destruction
Avascular necrosis - femoral head

111
Q

What is scoliosis

A

LATERAL curvature in the frontal plane of the spine

112
Q

Causes of scoliosis (3)

A

Idiopathic scoliosis - mainly females

Congenital scoliosis - from congenial structural defect e.g spina bifida

Secondary scoliosis - related to neuromuscular imbalance/ connective tissue disorder e.g cerebral palsy or JIA

113
Q

What is the most common form of scoliosis

A

Idiopathic scoliosis

114
Q

Pathology of congenial scoliosis

A

-embryological malformation of one or more vertebrae in the spine

  • one area of the spinal column lengthens at a slower rate than the rest causing curvature
115
Q

Examination of people with scoliosis

A

-examination of spine and its curvature
-examination of movements e.g flexion, extension in all segments of spine
-Adam forward bend
-cobb angle
-scoliometer - measures trunk asymmetry
-pulmonary function test - scoliosis can lead to poor ventilation

116
Q

What is Adam forward bending test

A

Patient bends forward at the waist until the back is in horizontal plane
Look for:
-spinal asymmetry
-unlevel shoulders and hips
-scapula asymmetry

117
Q

What is cobbs angle

A

measurement to quantify the magnitude of spinal deformities
Scoliosis = lateral curvature of greater than 10 degrees
10-20 - mild
20-40 - severe

118
Q

Management of scoliosis

A

Surgical treatment - spinal fusion two vertebrae are fused

Conservative treatment -

Braces - if children bones still growing to prevent further curve

Physiotherapist

119
Q

What is a discoid meniscus

A

Where the meniscus is shaped like a disk making it more prone to injury due being more likely to tear

120
Q

What are the three types of discoid meniscus

A

Incomplete - lateral meniscus is thicker and wider than normal

Complete - tibia completely covered by the meniscus

Hyper mobile Wrisberg - meniscus has no posterior attachment to the tibia ( ligament of wrisberg)

121
Q

Clinical presentation of discoid meniscus

A

-visible or audible snap on terminal extension
-pain and swelling
-locking

122
Q

Diagnosis of discoid meniscus

A

MRI
-detect tears in meniscus
-show ratio of meniscal width vs maximal tibial width >75% means discoid meniscus

Examination
-lateral joint space is sensitive and swelling
-twisting flexion and extension - Popping and clunking

123
Q

Management of discoid meniscus

A

Surgery - Arthroscopic partial meniscectomy

Control pain:
-NSAIDS
-analgesics
-cryotherapy

Physiotherapy
Strengthen leg muscles

124
Q

What is anaemia

A

Low levels of haemoglobin in the blood

125
Q

What are physiologic causes of anaemia in infants (4)

A
  • prematurity
  • blood loss

-haemolysis

-twin- twin transfusion - blood unequally distributed between twins in placenta

126
Q

What are causes of haemolyisis aneamia (3)

A

-hereditary spherocytosis
-G6PD deficiency
-haemolytic disease of newborn - Blood incompatibility

127
Q

Why is there a natural dip in haemoglobin in infants

A

-high oxygen delivery to tissues due to high haemoglobin levels at birth

-causes negative feedback

-suppression of EPO in kidneys therefore reduced haemoglobin by bone marrow

128
Q

Why do premature infants become anaemic (4)

A

-less time receiving iron in utero from mother

-RBC creation cannot keep up with the necessary rapid growth in first weeks

-reduced EPO levels

-blood tests remove significant volume of the blood volume

129
Q

Pathology of haemolytic disease of newborn

A

1.Mother is rhesus D antigen negative
Foetus is rhesus D antigen positive

2.blood from foetus can enter the mothers bloodstream - mother immune system will produce antibodies to foreign Rhesus D antigens from foetus - SENSITISED

  1. Doesn’t affect during first pregnancy unless exposure happen early
  2. During late pregnancies mothers anti D antibodies can cross the placenta to foetus, if baby is rhesus D positive they will attack
  3. Causing haemolysis of RBCs and excess bilirubin causing aneamia
130
Q

How do you check for haemolytic anemia a of newborn

A

Direct Coombes test

131
Q

Common causes of anaemia in older children

A

Iron deficiency anemia - most common

Blood loss - especially in menstruation

In developing countries - helminth infection

132
Q

What worms are responsible for a helminth infection chronic anemia

A

Round worms
Hook worms
Whip worms

133
Q

Treatment for helminth infection

A

Single dose albendazole/ mebendazole

134
Q

Causes of microcytic anemia

A

T- thalassaemia
A- anaemia of chronic disease
I- iron deficiency
L- lead poisoning
S- sideroblastic anemia

135
Q

Causes of normocytic anemia

A

A- acute blood loss
A- anaemia of chronic disease
A- aplastic anemia
H- haemolytic anemia
H- hypothyroidism
S - sickle cell

136
Q

What is the megoblastic anemia

A

Megoblastic - result of DNA synthesis preventing the cells dividing normally and instead grows into large cells

137
Q

Examples of megoblastic aneamia

A

B12 deficiency
Folate deficiency

138
Q

Example of normoblastic macrocytic anaemia

A

Alcohol
Reticulocytosis - too many immature RBC
Hypothyroidism
Liver disease
Drugs such as azathioprine

139
Q

Sx of anaemia

A

generic symptoms of anaemia:

Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions

There are symptoms specific to iron deficiency anaemia:
Pica- dietary cravings for abnormal things such as dirt and can signify iron deficiency

Hair loss can indicate iron deficiency anaemia

140
Q

Signs of iron deficiency anaemia

A

Koilonychia - spoon shaped nails
Angular stomatitis - inflammation around corners
Atrophic glossitis - smooth tongue due to papillae atrophy
Brittle nails and hair
Pica - unusual cravings

141
Q

General signs of anemia

A

Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
Numbness or tingling in hands and feet

142
Q

What anaemia can cause jaundice

A

Haemolytic anaemia

143
Q

Investigations for anaemia

A

FBC - haemoglobin and MCV

blood film

Reticulocyte count - high in haemolysis/ blood loss

Ferritin - low in iron deficiency

B12 and folate levels - macrocytic megoblastic

Bilrubin levels - raised in haemolysis

Direct Coombes test - autoimmune haemolytic anaemia

Haemoglobin electrophoresis - for spherocytosis/ G6PD deficiency

144
Q

Mx of iron deficiency anemia

A

Increase iron in diet - meat, leafy greens

Iron supplementation orally - 6mg per kg per day

Severe cases - blood transfusion

145
Q

What is a slipped upper femoral epiphysis

A

Hip condition where femoral head epiphysis is displaced posteroinferiorly due to weak growth plates

-imagine ice cream (femoral head epiphysis) coming off an ice cream cone (rest of the femur)

146
Q

What group is slipped upper femoral epiphysis more present in (2)

A

Males between 8-15
Obese children

147
Q

Clinical presentation of slipped upper femoral epiphysis

A

-pain in the hips/thigh/knee/groin
-loss of internal rotation of leg in flexion
-want to keep leg externally rotated
-painful lump
-history of minor leg trauma

148
Q

Investigations for slipped upper femoral epiphysis

A

1st line - X-ray

Others:
Blood test - CRP, ESR exclude other causes
Technetium bone scan
CR/MRI

149
Q

Mx of slipped upper femoral epiphysis

A

Surgery - internal fixation across the growth plate - screws to keep it stable

150
Q

What is the definition of haemolytic anaemia

A

anaemia secondary to reduced survival of RBCs

151
Q

What are the three types of INHERITED haemolytic anaemias and give examples

A

Metabolic abnormalities - G6PD deficiency

Haemoglobin abnormalities - sickle cell/ thalassaemia

Membrane abnormalities - Hereditary spherocytosis

152
Q

What are the two types of acquired haemolytic anaemias and give examples

A

Immune mediated - antibodies target RBC membrane - e.g autoimmune haemolytic anaemia

Non immune mediated - mechanical distortion or infections e.g having a prosthetic heart valve, hypersplenism

153
Q

What would characteristic RBC forms would you see on a blood film in:
Hereditary Spherocytosis
Microangiopathic haemolytic anaemia
Sickle cell disease

A

Spherocytes
Schistocytes
Sickle cells

154
Q

Reasons for children being iron deficient (3)

A

-not enough in diet (most common)
-loss of iron - menstruation
-inadequate iron absorption e.g crohns

155
Q

Where is iron most commonly absorbed

A

Duodenum
Jejunum

156
Q

How do PPIs reduce iron absorption

A

-Acid in the stomach keeps iron as SOLUBLE Fe2+

-PPIs reduce acid production so it changes to insoluble Fe3+

157
Q

What investigations can be done for iron deficiency anaemia? (4)

A

-Total iron binding capacity
-transferrin saturation
-serum ferritin
-serum iron

158
Q

What is total iron binding capacity

A

Total space on the transferrin molecules for the iron to bind

159
Q

What is thalassaemia

A

genetic defect in the protein chains that make up haemoglobin leading to anaemia

160
Q

What are the 2 types of thalassaemia

A

Alpha - defect in the alpha globin chains
Beta - defect in the beta globin chains

161
Q

What inheritance pattern is thalassaemia

A

Autosomal recessive

162
Q

How does thalassaemia lead to splenomegaly

A

-In thalassaemia RBCs are more fragile and break down easier due to defects in structure

  • this causes higher turnover rate of RBCs which are destroyed in the spleen

-leading to Splenomegaly

163
Q

Signs and symptoms of thalassaemia

A

Fatigue
Pallor
Jaundice
Chipmunk facies - due to hameoatopoeisis in the bones of the face

Gallstones
Splenomegaly
Poor growth and development

164
Q

How to diagnose thalassaemia (5)

A

Full blood count - microcytic anemia
Blood films - hypochromic RBCs

DIAGNOSTIC - Haemoglobin electrophoresis - show globin abnormalities

X-ray - hair on end sign due to increase BM activity

DNA testing - looks for genetic abnormality
(Screening pregnancy women in UK offered test)

165
Q

How does thalassaemia cause iron overload

A
  • regular blood transfusions leading to accumulation of iron
  • ineffective eryhtropoiesis causing excessive iron absorption in the GI tract
166
Q

What chromosome does ALPHA thalassaemia affect

A

Chromosome 16

167
Q

What chromosome does BETA thalassaemia

A

Chromosome 11

168
Q

Mx of alpha thalassaemia (5)

A

Monitoring FBC and complications

Iron chelation + serum ferritin - for iron overload

Blood transfusions

Splenectomy

Bone marrow transplant - curative

169
Q

Mx of alpha thalassaemia (4)

A

Monitoring FBC and complications

Blood transfusions

Splenectomy

Bone marrow transplant - curative

170
Q

What is HBH Bart’s syndrome

A

-A severe form of alpha thalssaemia

-due to inactivation of alpha globin alleles leading to alpha globin chains of Hb

-causes haemoglobin to have an extremely high affinity with oxygen so doesnt deliver oxygen to tissue

171
Q

HBH Bart’s syndrome symptoms

A

Not normally compatible with life

Severe aneamia
Hepatosplenomegaly
Heart failure in utero

172
Q

What is beta thalassaemia minor

A

A subtype of beta thalssaemia where they have one abnormal and one normal beta globin gene

Causes microcytic anaemia but usually no treatment needed

173
Q

What Thalassaemia intermedia

A

Two abnormal copes of beta globin gene
-either 2 defective genes
-or one defective and one deletion gene

174
Q

What is thalassaemia intermedia treatment

A

-occasional blood transfusion
-iron chelation to prevent iron overload

175
Q

What is thalassaemia major

A

-most severe form

-both genes are deletion genes and no functioning beta globin genes

176
Q

What complications does beta thalassaemia major cause

A

Severe microcytic anaemia
Splenomegaly
Bone deformities - bone marrow expands due to trying to produce more RBC

177
Q

Mx of thalassaemia major

A

-regular blood transfusions
-iron chelation - for iron overload
-folate supplements
-splenectomy
-bone marrow transplant

178
Q

What is sickle cell anaemia

A

Genetic condition causing sickle (crescent) shaped red blood cells
Making them more fragile and easily destroyed and sticky

179
Q

Protective conditions against malaria

A

Sickle cell anemia
Thalassaemia

180
Q

Pathology of sickle cell anaemia

A

-autosomal recessive condition due to single nucleotide polymorphism affecting beta globin on chromosome 11

-abnormal variant of haemoglobin called HbS resulting in sickle cells

181
Q

How is sickle cell anaemia diagnosed

A

New born blood spot

Pregnant women at high risk of being carriers of the sickle gene offered testing

Blood film - see sickle cells

182
Q

Complications of sickle cell anaemia

A

Anaemia
Increased risk of infection
Chronic kidney disease
Sickle cell crises
Acute chest syndrome
Stroke - RBC clump together causing block
Avascular necrosis in large joints such as the hip
Pulmonary hypertension
Gallstones - excess bilirubin due to RBC breakdown
Priapism (painful and persistent penile erections)

183
Q

What are vaso occlusive crisis caused by

A

Caused by sickle cells clogging capillaries causing distal ischemia

Can lead to :
Priapism - urological emergency
Fever
Swelling
Pain

184
Q

How do you treat priapism

A

-Aspirating blood form penis
-flush through with saline

185
Q

What is splenic sequestration crisis

A

red blood cells blocking blood flow within the spleen causing enlarged and painful spleen

Leading to:
Hypovolaemia shock
Anaemia

186
Q

Complications of sequestration crisis (3)

A

-Splenic infarction
-hyposplenism
-susceptible to infections (strep pneumoniae, H.influenzae

187
Q

Mx of splenic sequestration crisis

A

Treating anaemia and shock
-blood transfusions
-fluid resuscitation

Treating crisis
Splenectomy

188
Q

What’s aplastic crisis in sickle cell anemia

A

Triggered by parvovirus B19- temporary absence of the creation of new red blood cells

189
Q

Tx of aplastic crisis

A

Blood transfusions

190
Q

What is Acute chest syndrome in sickle cell anemia

A

Vessels supplying the lungs become clogged with red blood cells
In the case of sickle cell anaemia it is caused by vaso occlusive event

191
Q

Acute chest syndrome symptoms

A

Fever
SOB
Chest pain
Cough

192
Q

Tx of acute chest syndrome

A

Supportive Management
-analgesia!!!!!!
-hydration (IV may be required)

-ABX/antivirals for infection
-blood transfusions
-incentive spirometry - encourages deep breathing
- resp support

193
Q

General management of sickle cell anaemia

A

-Avoid triggers for crisis e.g keep warm and hydrated

-up to date vaccines

-ABX prophylaxis - penicillin V - protect against infection

-hydroxycarbamide - stimulates HBF

  • L-glutamine

-blood transfusions

-bone marrow transplants - curative

194
Q

How does hydroxycarbimide work for sickle cell aneamia

A
  • Stimulates the production of fetal haemoglobin (HbF).
  • Fetal haemoglobin does not lead to the sickling of red blood cells
  • It reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan
195
Q

How does crizanlizumab work in sickle cell anaemia

A

-monoclonal antibody that targets P-selectin.

-P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets.

-It prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

196
Q

What’s the main inheritance pattern of Von willbrands disease

A

Autosomal dominant

197
Q

Presentation of VW disease

A

-Bleeding gums with brushing
-Nosebleeds (epistaxis)
-Easy bruising
-Heavy menstrual bleeding (menorrhagia)
-Heavy bleeding during and after surgical operations

198
Q

Diagnosis of VW disease

A

-Hx of abnormal bleeding
-prolonged APTT
-FHx
-VWF antigen test

199
Q

MX of Von willebrands disease

A

To stop significant bleeding:
-Desmopressin (stimulates the release of vWF from endothelial cells)
-Tranexamic acid
-Von Willebrand factor infusion
-Factor VIII plus von Willebrand factor infusion

To stop Heavy menstrual periods:
-tranexamic acid
-mefenamic acid
-mirena coil - progesterone stops shedding
-COCP
-norethisterone -synthetic progesterone
-hysterectomy

200
Q

What is fanconi anemia

A

An inherited form of aplastic anaemia and defective bone marrow resulting in decreased production of all types of blood cells

201
Q

Symptoms of fanconi anaemia

A

-heart or kidney abnormalities
-low birth weight and height
-abnormal skin pigmentation - birthmarks
-skeletal abnormalities - no thumb or radius bone
-easy bruising
-SOB
-tiredness
-scoliosis

202
Q

How is fanconi anaemia diagnosed

A

Before birth - if someone has it in the family
-amniocentesis
-chorionic villus sampling

After birth
Bone marrow testing
Blood tests - check RBC, WBC, platelet levels
Genetic tests

203
Q

Fanconi anaemia Tx

A

-IV transfusion of RBC and platelets
-androgens - increase number of RBC and platelets
-Abx for infections
-synthetic growth factors - increase WBC

Curative - bone marrow transplant

204
Q

What inheritance pattern is haemophilia

A

X linked recessive

205
Q

What respective factors are affected in haemophilia A and B

A

Haemophilia A - factor 8

Haemophilia B - factor 9

206
Q

Presentation of haemophilia

A

In children
-Spontaneous bleeding
-haematomas
-cord bleeding
-Intracranial haemorrhage
-haemarthrosis - blood in the joints can cause bone deformity
-compartment syndrome - bleeding into the muscle

207
Q

Mx of haemophilia

A

-Given the appropriate clotting factor via IV infusion

-tranexamic acid

-emicizumab

-good dental hygiene

-no contact sports

208
Q

What is a complciation of giving IV clotting factors

A

Formation of antibodies (inhibitors) against the treatment so it becomes ineffective

209
Q

Dx of haemophilia (3)

A

bleeding scores - severity of bleeding
coagulation factor assays
genetic testing.

210
Q

What is immune thrombocytopenic purpura

A

Condition where Antibodies created against platelets
Leading to destruction of platelets and low platelet count

211
Q

Mx of ITP (5)

A

-prednisolone
-IV immunoglobulins
-thrombopoietin receptor agonists - avatrombopag
-Rituximab- Monoclonal antibody that targets B cells - anti CD20
-Spleen taken out

212
Q

What is involved in a haemolysis screen

A

FBC
Reticulocyte count -high
Blood Film
LDH
Haptoglobin - high
Bilirubin - high
Direct Coombs Test - antibodies present

213
Q

Main presentation of G6PD defeicincy anaemia

A

-Neonatal jaundice

-Chronic non-spherocytic haemolytic anaemia

-Intermittent episodes of intravascular haemolysis

-gallstones

-splenomegaly

214
Q

Triggers for G6PD deficiency (4)

A

fava beans,
fever
acidosis
Drugs- e.g chloroquine, aspirin

215
Q

Tx of G6PD deficiency

A

Oxygen and fluids
Avoidance of triggers
Blood transfusion

216
Q

Causes of ITP

A

-secondary to infection e.g HIV, hepatitis, CMV, EBV

Drug induced e.g sodium valproate, ibuprofen, phenytoin

Autoimmune - Evan’s syndrome

217
Q

How does emicizumab work

A
  • binds factor 9+10 so no need for factor 8 - tx for haemophilia A
218
Q

Most common paediatric leukemia

A

Acute lymphoblastic leukemia

219
Q

Leukemia symptoms

A

-weight loss
-fever
-night sweats

-Muscle weakness
-purplish patches/spots
-easy bruising
-Splenomegaly
-joint pain

220
Q

Leukemia treatment

A

Chemotherapy
Targeted therapy - monoclonal antibodies
Bone marrow transplant

Prevention of tumour lysis - Allopurinol + fluids

221
Q

What causes fragile X
What causes people to be carriers

A

tri nucleotide repeat CGG over 200 times - have disease

Tri nucleotide repeat CGG 50-200 times - carrier

222
Q

Ix for fragile X

A

Amniocentesis
Chorionic villus sampling
To test DNA and the number of tri nucleotide repeats of CGG

223
Q

Sx of fragile X carriers in male

A

Fragile X associated tremor ataxia (FXTAS)

224
Q

Sx of fragile X carriers in women

A

Primary ovarian insufficiency

225
Q

What is the cause of digeorges syndrome

A

22q11deletion - micro deletion on the arm on chromosome 22

226
Q

Features of digeorges - CATCH 22

A

C - congenital heart defect
A- abnormal facies
T- thymic hypoplasia
C- cleft lip and palate
H- hypocalcaemia

22 - deletion on chromosome 22

227
Q

What are the translocation mutation for each leukemia

A

ALL - 12:21

AML - 15:17

CML - 9:22

228
Q

Biggest cause of paeds stroke

A

Sickle cell aneamia

229
Q

What type of bacteria lead to spleen infection

A

Encapsulated bacteria

230
Q

DDX of haemophilia

A

DIC
NAI
Vit k deficiency
Marrow failure - e.g leukemia
Von willebrand disease
Platelet function disorder

231
Q

Drug triggers for G6PD deficiency

A

Primaquine (an antimalarial)
Ciprofloxacin
Nitrofurantoin
Trimethoprim
Sulfonylureas (e.g gliclazide)
Sulfasalazine and other sulphonamide drugs

Phase 3a - Arun&Erin (15 decks)

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