Medicine Phase 3a > PAEDIATRICS - 4 > Flashcards

PAEDIATRICS - 4 Flashcards

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1
Q

Composition of a chromosome

A

DNA –> genes –> wrapped around a core of histone proteins –> packaged into supercoils –> chromosome

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2
Q

Number of chromosomes

A

23 pairs

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3
Q

Down syndrome: chromosome abnormality

A

Trisomy 21

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4
Q

Down syndrome: inheritance

A

Extra chromosome results from an error at meiosis, either due to:

  • Non-disjunction
  • Translocation
  • Mosaicism
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5
Q

Edward’s syndrome: chromosome abnormality

A

Trisomy 18

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6
Q

Edward’s syndrome: clinical features

A 
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Flexed, overlapping fingers
'Rocker'bottom' feet
Cardiac and renal malformations
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7
Q

Patau syndrome: chromosome abnormality

A

Trisomy 13

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8
Q

Patau syndrome: clinical features

A 
Structural defect of brain
Scalp defects
Small eyes (microphthalmia)
Cleft lip and palate
Polydactyly
Cardiac and renal malformations
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9
Q

Diagnosing Edwards or Patau syndrome

A
  1. ) US during 2nd trimester
  2. ) Amniocentesis and chromosome analysis
  3. ) Non-invasive prenatal testing (NIPT)
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10
Q

Turner syndrome: chromosome abnormality

A

(45, X)

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11
Q

Turner syndrome: screening

A

US

  • Fetal oedema of neck, hands or feet
  • Cystic hygroma
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12
Q

Turner syndrome: clinical features

A 
Lymphoedema of hands and feet
Spoon-shaped nails
Short stature
Neck webbing
Wide carrying angle
Widely spaced nipples
Coarctation of the aorta
Delayed puberty
Hypothyroidism
Normal intellectual function
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13
Q

Turner syndrome: treatment

A
  1. ) Growth hormone therapy

2. ) Oestrogen replacement for development of secondary sexual characteristics at time of puberty

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14
Q

Klinefelter syndrome: chromosome abnormality

A

(47, XXY)

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15
Q

Klinefelter syndrome: clinical features

A 
Infertility (most common presentation)
Hypogonadism with small testes
Gynaecomastia
Tall stature
Intelligence usually normal
May have educational or psychological problems
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16
Q

Define reciprocal translocation

A

Exchange of material between 2 different chromosomes

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17
Q

Define deletion

A

Loss of part of a chromosome

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18
Q

Cri-du-chat syndrome: chromosomal abnormality

A

Deletion of tip of short arm of chromosome 5 –> 5p- / monosomy 5p

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19
Q

Williams syndrome: chromosomal abnormality

A

Deletion at band q11 on long arm of chromosome 7

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20
Q

DiGeorge syndrome: chromosomal abnormality

A

Deletion of band q11 on chromosome 22

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21
Q

Charcot-Marie tooth disease: chromosomal abnormality

A

Duplication of PMP22 gene at 17p12

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22
Q

Achondroplasia inheritance pattern

A

Autosomal dominant

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23
Q

Ehlers Danlos syndrome inheritance pattern

A

Autosomal dominant

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24
Q

Marfan syndrome inheritance pattern

A

Autosomal dominant

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25
Neurofibromatosis inheritance pattern
Autosomal dominant
26
Osteogenesis imperfecta inheritance pattern
Autosomal dominant
27
Chance of child inheriting abnormal gene if 1 parent has an autosomal dominant condition
50%
28
Chance of child inheriting abnormal gene if both parents are carriers of an autosomal recessive gene
25%
29
Define X-linked inheritance
Alterations in genes found on the X chromosome
30
X-linked inheritance pattern
Can be recessive or dominant Males are affected Females are carriers and usually healthy Each son of a female carrier has a 50% risk of being affected Each daughter of a female carrier has a 50% risk of being a carrier
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Examples of X-linked recessive disorders
``` Colour blindness (red-green) Duchenne and Becker muscular dystrophies Fragile X syndrome G6PD deficiency Haemophilia A and B ```
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Reason for rarity of Y-linked inheritance
Y-linked genes determine sexual differentiation --> mutations are associated with infertility and are therefore rarely transmitted
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Fragile X syndrome: chromosome abnormality
X-linked triplet reread disorder
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Fragile X syndrome: clinical features
``` Moderate-severe learning disability Macrocephaly Macroorchidism Long face Large, everted ears Prominent mandible Borad forehead Mitral valve prolapse ```
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Letter representing short arm
P
36
Letter representing long arm
Q
37
Definition of 15q11-13
Chromosome 15 Long arm Bands 11 to 13
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Define genomic imprinting
The ability of a gene to be expressed depends on the sex of the parent
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Define an imprinted gene
This gene is switched off
40
Prader-Willi syndrome: chromosome abnormality
15q11-13 2 ways abnormality can develop: 1. ) Deletion de novo 2. ) Uniparental disomy
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Prader-Willi syndrome: deletion de novo
Deletion occurs in the 15q11-13 region of the paternal chromosome
42
Prader-Willi syndrome: uniparental disomy
No paternal copies of 15q11-13 | 2x maternal copies of 15q11-13
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Define deletion de novo
Parental chromosomes are normal, deletion occurs as a new mutation in the child
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Define uniparental disomy
Child inherits 2 copies of a chromosome from 1 parent and non from the other parent
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Angelman syndrome: chromosome abnormality
Chromosome region = 15q11-13 2 ways abnormality can develop: 1. ) Deletion de novo 2. ) Uniparental disomy
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Angelman syndrome: deletion de novo
Deletion occurs on 15q11-13 on maternal chromosome
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Angelman syndrome: uniparental disomy
No maternal copies of 15q11-13 | 2x paternal copies of 15q11-13
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Types of genetic investigations
``` Cytogenetic analysis (karyotyping) Molecular cytogenetic analysis (fluorescence in situ hybridizaition) Microarray PCR Next generation sequencing Linkage disequilibrium ```
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Define cytogenetic analysis (karyotyping)
Chromosomes stained and visualised under a microscope Detects alterations in chromosome number and structural rearrangements
50
# Define molecular cytogenetic analysis (fluorescence in situ hybridizaition) --> FISH
Fluorescent labelled DNA probes detect presence, number and chromosomal location of specific chromosomal sequences Useful for micro deletion syndromes
51
Define microarray comparative genomic hybridisation
Detects chromosomal imbalances using thousands of DNA probes to investigate a whole genome --> more sensitive than cytogenetic analysis
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Define PCR
Polymerase chain reaction - application of a specific target site within the genome --> this target is then sequenced
53
Define next generation sequencing
Rapid sequencing of whole genomes or of selected loci within the genome
54
Define linkage disequilibrium and genome-wide association studies
Compares frequency of combinations of alleles at nearby loci in a given population to identify genetic variants associated with specific diseases through a common ancestral origin
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Aims of genetic counselling
Support and information for people, including: - To help to understand their situation - To make their own decision about managing disease/ risk of disease - -> allows for greater autonomy and choice in reproductive decisions
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Factors that influence decision making in genetic counselling
``` Magnitude of risk Perceived severity of disorder Availability of treatment Family size Availability of a safe and reliable prenatal diagnostic test Cultural, religious or ethical values ```
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Interventions for a newborn who is not breathing
1. ) Open airway, give 5 inflation breaths, consider SpO2 (mask ventilation) 2. ) Start chest compressions 3. ) Drugs - Epinephrine - Sodium bicarbonate - Dextrose 4.) Transfer to neonatal unit
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Aetiology of newborn failing to respire
``` DOPE D = displaced tube (tracheal intubation) O = obstructed tube (meconium) P = Patient - Tracheal obstruction - Lung disorders - Shock from blood loss E = equipment failure (gas supply exhausted or disconnected) ```
59
Routine examination of the newborn infant
1. ) Birthweight, gestational age and birthweight centile 2. ) General observation of appearance, posture and movements 3. ) Head circumference 4. ) Fontanelle 5. ) Face 6. ) Jaundice 7. ) Eyes 8. ) The palate 9. ) Breathing 10. ) Auscultation 11. ) Femoral pulses 12. ) Genitalia and anus 13. ) Back and spine 14. ) Hips (developmental dysplasia if the hip)
60
Routine injections given at birth
IM Vitamin K (to prevent haemorrhagic disease of the newborn)
61
Define port-wine stain (naevus flammeus)
Present from birth and grows with infant. Vascular malformation in dermis
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Define Sturge-Weber syndrome
Naevus flammes (port-wine stain) that runs along the trigeminal nerve and causes intracranial vascular abnormalities
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Biochemical screening of the newborn (Guthrie test)
1. ) Congenital hypothyroidism 2. ) MCAD (medium-chain acyl-coenzyme A dehydrogenase deficiency) 3. ) Maple syrup urine disease 4. ) Isovaleric acidaemia 5. ) Glutaric acuduria type 1 6. ) Homocystinuria 7. ) Phenylketonuria 8. ) Sickle-cell disease 9. ) Cystic fibrosis
64
Physiological jaundice
Increased release of Hb from breakdown of red cells due to high Hb conc. at birth Red cell lifespan of newborn is 70 days Hepatic bilirubin metabolism is less efficiency in first few days of life
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Define kernicterus
Encephalopathy due to deposition of unconjugated bilirubin in basal ganglia and brainstem nuclei
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Prevalence of visible jaundice in newborns
50%
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Threshold for clinical jaundice
Bilirubin >80 micromol/litre
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Aetiology of jaundice: age <24 hours
``` Haemolytic disorders: - Rhesus incompatiblity - ABO incompatibility - G6PD deficiency - Spherocytosis Infection ```
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Aetiology of jaundice: 24 hours - 2 weeks of age
``` Physiological Breast milk jaundice UTI Haemolysis Bruising Polycythaemia Crigler-Najjar syndrome ```
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Aetiology of jaundice: >2 weeks of age
Unconjugated: - Physiological or breast milk - Infection - Hypothyroidism Conjugated: - Bile duct obstruction - Neonatal hepatitis
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Management of pathological jaundice
1. ) Phototherapy | 2. ) Exchange transfusion
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Mechanism of phototherapy for jaundice
Light (wavelength 450nm) from blue-green of visible spectrum Converts unconjugated bilirubin --> harmless water-soluble pigment This pigment is excreted in the urine
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Mechanism of exchange transfusion
Blood is removed from baby in small quantities and replaced with donate blood. 2x infants volume is exchanged
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Signs of conjugated hyperbilirubinaemia
Dark urine | Pale stools
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Aetiology of conjugated hyperbilirubinaemia
Neonatal hepatitis syndrome | Biliary atresia
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The phases of normal human growth
1. ) Fetal (fasted period of growth) 2. ) Infantile phase (rapid then decelerating) 3. ) Childhood phase (slow, steady) 4. ) Pubertal growth spurt
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Factors influencing growth in fetal stage
``` Size of mother Placental nutrient supply Insulin-like growth factor 2 Human placental lactogen Insulin ```
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Factors influencing growth in infantile stage
Adequate nutrition
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Factors influencing growth in childhood stage
GH IGF-1 Thyroid hormone Vitamin D
80
Factors influencing growth in pubertal stage
Sex hormones - testosterone - oestradiol
81
Define short stature
Height below 2nd centile
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Aetiology of short stature: endocrine
``` Hypothyroidism GH deficiency Steroid excess (iatrogenic, Cushing's syndrome) IGF-1 deficiency ```
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Aetiology of short stature: nutritional
Coeliac Crohn's disease CKD
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Aetiology of short stature: syndromes
Turners Noonan Down's Russell-Silver
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Aetiology of short stature: disproportionate
Skeletal dysplasia (legs > back) Storage disorders (back > legs)
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Aetiology of short stature: psychological
Emotional deprivation/ neglect --> leads to reduced GH
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Investigating for disproportionate short stature
1. ) Sitting height | 2. ) Subischial leg length (standing height-sitting height)
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Investigation for short stature
1. ) Growth charts 2. ) Identify clinical features 3. ) X-ray (bone age) 4. ) FBC (anaemia - coeliac/ Crohn's) 5. ) U&E's 6. ) TSH 7. ) GH provocation tests (insulin) 8. ) IGF-1
89
Aetiology of tall stature
1. ) Tall parents 2. ) Marfan's syndrome 3. ) Klinefelter syndrome
90
Define orchidopexy
Surgical placement of testis in scrotum
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Indications for orchidopexy
1. ) Cosmetic 2. ) Reduced risk of torsion and trauma 3. ) Fertility (testis needs to be in scrotum, below body temperature in order to allow spermatogenesis) 4. ) Malignancy (increased risk in undescended testis)
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Differentiation between undescended and retractile testes
Retractile testis can be moved into scrotum with ease and without tension.
93
Clinical features of hypothyroidism: congenital
``` Faltering growth Feeding problems Prolonged jaundice Constipation Pale, cold, mottled Dry skin ```
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Clinical features of hypothyroidism: acquired
``` Short stature Cold intolerance Dry skin Bradycardia Thin, dry hair Pale, puffy eyes Goitre ```
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Treatment of hypothyroidism
Oral levothyroxine
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Clinical features of hyperthyroidism
``` Weight loss Tachycardia Tremor Anxiety Heat intolerance Diarrhoea Oligomenorrhoea ```
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Treatment of hyperthyroidism
Carbimazole (antithyroid) | Propranolol
98
Criteria for growing pains
- Age range 3-12 - Symmetrical pain in lower limbs - Pain never present at start of day - physical activities not limited - physical examination normal
99
Aetiology of acute-onset limb pain
- Trauma - Osteomyelitis - Bone tumours - Septic arthritis
100
Osteomyelitis: clinical presentation
``` Fever Painful, immobile limb Swelling Extreme tenderness Worse on movement ```
101
Osteomyelitis: investigations
1. ) Positive blood cultures 2. ) CRP/ ESR raised 3. ) X-rays initially normal - subperiosteal new bone formation takes 7-10 days 4. ) US 5. ) MRI
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Osteomyelitis: treatment
1. ) Parenteral antibiotics - IV then oral 2. ) Splint for limb
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Causes of acute painful limp: 1-3 years
Infection Transient synovitis Trauma Malignant disease
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Causes of acute painful limp: 3-10 years
``` Transient synovitis Septic arthritis Trauma Perthes disease JIA Malignancy ```
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Causes of acute painful limp: 11-16 years
Mechanical Slipped capital femoral epiphysis Reactive arthritis JIA
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Causes of chronic and intermittent limp: 1-3 years
DDH (developmental dysplasia of the hip) Cerebral palsy JIA
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Causes of chronic and intermittent limp: 3-10 years
Perthes disease Duchenne muscular dystrophy JIA Tarsal coalition
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Causes of chronic and intermittent limp: 11-16 years
Slipped capital femoral epiphysis JIA Tarsal coalition
109
Transient synovitis (irritable hip): clinical presentation
Acute limb, non-weight bearing No pain at rest Decreased range of movement Afebrile
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Transient synovitis (irritable hip): management
Rest | Analgesia
111
Septic arthritis: clinical presentation
``` Non-weight bearing Febrile Hip held flexed Severe pain at rest Raised ESR/ CRP ```
112
Septic arthritis: management
Antibiotics Rest Analgesia
113
Define Perthes disease
Avascular necrosis of the capital femoral epiphysis of femoral head due to interruption of blood supply
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Perthes disease: clinical presentation
Unilateral | Slow onset pain
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Perthes disease: management
1. ) X-ray 2. ) Rest 3. ) Physiotherapy 4. ) Traction, plaster casts and surgery in severe cases
116
Define slipped capital femoral epiphysis
Displacement of epiphysis of femoral head
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Types of arthritis in children
``` Septic arthritis Reactive arthritis Juvenile idiopathic arthritis (JIA) Henoch-Schonlein purpura SLE Juvenile dermatomyositis ```
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Types of genetic skeletal conditions in children
``` Achondroplasia Thanatophoric dysplasia Cleidocranial dysostosis Arthrogryposis Osteogenesis imperfecta (brittle bone disease) Osteopetrosis (marble bone disease) Marfan syndrome ```
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Reactive arthritis: clinical presentation
Transient joint swelling (<6 weeks) of ankles/ knees Pain, hot, redness and restricted movement of joint Follows recent infection
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Infections that can lead to reactive arthritis
``` Enteric bacteria: - Salmonella - Shigella - Campylobacter Yersinia ``` STI's: - Chlamydia - Gonorrhoea
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Most common causative organism of septic arthritis in infants and young children
Staphylococcus aureus
122
Septic arthritis: clinical presentation
Erythematous, warm, tender joint Reduced range of movement Febrile Infants 'hold' the limb and cry if it is moved
123
Septic arthritis: investigation
1. ) Raised WBC and CRP/ ESR 2. ) Blood cultures (positive) 3. ) US joint (to assess for effusion) 4. ) X-ray (to exclude trauma) 5. ) Aspiration of the joint space under ultrasound
124
Septic arthritis: management
1. ) Antibiotics 2. ) Immobilize joint 3. ) Washing out of joint
125
Define juvenile idiopathic arthritis (JIA)
Chronic inflammatory joint disease, characterised by persistent joint swelling (>6 weeks). Presents <16 years Absence of infection or any other cause
126
Subtypes of juvenile idiopathic arthritis (JIA)
``` Oligoarthritis (persistent or extended) Polyarthritis (RF -'ve or RF +'ve) Systemic arthritis Psoriatric arthritis Enthesitis-related arthritis Undifferentiated ```
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Female: male ratio of all JIA subtypes except enthesitis-related
5:1
128
Age of onset of oligoarthritis (both) and polyarthritis RF -'ve
1-6 years
129
Age of onset of polyarthritis RF +'ve
10-16 years
130
Age of onset of systemic arthritis
1-10 years
131
Oligoarthritis (persistent): clincial features
1-4 joints involved (knee, ankle or wrist most common) Chronic anterior uveitis (20%) Leg length discrepancy
132
Oligoarthritis (extended): clincial features
>4 joints Asymmetrical distribution of large and small joints Chronic anterior uveitis (20%) Asymmetrical growth
133
Oligoarthritis: lab results
ANA + or -
134
Polyarthritis (RF negative): clinical features
Symmetrical large and small joint arthritis + fingers Cervical spine and temporomandibular joint may be involved Fever Reduction of growth rate
135
Polyarthritis (RF positive): clinical features
``` Symmetrical large and small joint arthritis + fingers Rheumatoid nodules (10%) Similar to adult rheumatoid arthritis ```
136
Polyarthritis (RF positive): lab results
RF positive
137
Systemic arthritis: clinical features
``` Oligoarthritis or polyarthritis Acute illness High fever Malaise Salmon-pink macular rash Lymphadenopathy Hepatosplenomegaly Serositis ```
138
Systemic arthritis: lab results
Anaemia Raised neutrophils Raised platelets High acute-phase reactants
139
Psoriatric arthritis: clinical features
``` Dactylitis Asymmetircal distribution of large and small joints Psoriasis Nail pitting Chronic anterior uveitis (20% ```
140
Enthesitis-related arthritis: clinical features
Lower limb, large joints Mild lumbar spine and sacroiliac involvement later on Enthesitis = inflammation at insertion of tendons or ligaments into bone
141
Enthesitis-related arthritis: lab results
HLAB27 positive
142
Juvenile idiopathic arthritis: complications
Chronic anterior uveitis Flexion contractures of joints Growth failure Osteoporosis
143
Juvenile idiopathic arthritis: management
1. ) NSAID's and analgesics 2. ) Joint corticosteroid injections 3. ) Methotrexate 4. ) Systemic corticosteroids 5. ) Cytokine modulators
144
Define Henoch-Schonlein purpura
Vasculitis of childhood
145
Henoch-Schonlein purpura: clincial features
``` Purpuric rash over lower legs and buttocks Arthritis of ankles or knees Abdominal pain Haematuria Proteinuria ```
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Juvenile dermatomyositis: clinical features
``` Malaise Progressive weakness (difficulty climbing stairs) Facial rash Erythema over bridge of nose Hypertrophic and pink skin on fingers ```
147
Formula for calculating maintenance fluids
First 10kg = (100ml/kg x 10kg) Second 10kg = (50ml/kg x (10kg) Third 10kg = (20ml/kg x (10kg) --> Add these values together and divide by number of hours in which infusion will be given over (24 or 48) to get mL/hour
148
Formula for calculating correction of fluid deficit
5% dehydrated: 5 x 10 x weight (kg) 10% dehydrated: 10 x 10 x weight Divide this by number of hours in which infusion will be given over (24 or 48) to get mL/hour
149
Formula for calculating total volume of fluid to administer to a dehydrated child
Correction of fluid deficit + maintenance fluid
150
Define epididymal cyst
Smooth, extra testicular, spherical cyst in the head of the epididymis
151
Epididymal cyst: pathology
• Contains clear + milk (spermatocele) fluid
152
Epididymal cyst: clinical presentation
* Testicular lump * Lies above and behind the testis * Often multiple + may be bilateral * Only painful if LARGE * Well defined * Will trans luminate * Testis is palpable separately from cyst
153
Epididymal cyst: investigations
1.) Scrotal ultrasound
154
Epididymal cyst: management
Usually unnecessary | If painful + symptomatic --> surgical excision
155
Define hydrocoele
Abnormal collection of fluid within tunica vaginalis
156
Hydrocoele: aetiology
* Patent processus vaginalis * Testis tumour * Trauma * Infection * Testicular torsion
157
Hydrocoele: pathology
* Overproduction of fluid in tunica vaginalis | * OR processus vaginalis fails to close  peritoneal fluid enters
158
Hydrocoele: clinical presentation
* Scrotal enlargement * Smooth, cystic swelling * Painless * Testis are still palpable * Lies anterior + below testis * Will trans luminate
159
Hydrocoele: investigations
1. ) Scrotal US | 2. ) Serum alpha-fetoprotein + hCG (to exclude malignancy)
160
Hydrocoele: management
Either resolves spontaneously OR 1. ) Therapeutic aspiration 2. ) Surgical removal
161
Define varicocele
Abnormal dilation of testicular veins in the pampiniform venomous plexus
162
Varicocele: pathology
Venous reflux (lack of effective valves) --> dilation of testicular veins
163
Varicocele: clinical presentation
* Distended scrotal blood vessels that ‘feel like a bag of worms’ * Dull ache * Scrotal heaviness * Scrotum hands lower on side of varicocele
164
Varicocele: investigations
1. ) Venography | 2. ) Colour doppler ultrasound
165
Varicocele: management
1. ) Surgical removal if: - Painful - Infertile - There is testicular atrophy
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