3A revision Flashcards

1
Q

Name 5 conditions that are tested for in Newborn Screening (Guthrie, heel-prick test)?

A

Cystic Fibrosis – tests immunoreactive trypsinogen (IRT)
Sickle Cell Disease
Congenital hypothyroidism – prevent cretinism – tests TSH
Phenylketonuria – tests phenylalanine
Medium-chain-acyl Coenzyme A (MCCAD) deficiency
Maple Syrup Urine Diseae
Galactosaemia
Homocystinuria

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2
Q

What Causes Phenylketonuria? Name 5 Features?

A

Autosomal recessive – mutation of the PAH gene (Phenylalanine hydroxylase) on chromosome 12 – ↓PAH enzyme
Amino acid phenylalanine cannot be converted to tyrosine
Accumulation of phenylalanine – converted to phenylketones
Phenylalanine (crosses the blood brain barrier) → intellectual disability
Tyrosine – important in production of neurotransmitters (norepinephrine, epinephrine, Dopamine) – in the adrenal medulla

Learning difficulties
Musty urine
Microcephaly
seizures

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3
Q

What is Kernicterus? Name 5 Signs?

A

Deposition of Unconjugated bilirubin in the basal ganglia

Irritability
Poor feeding
Opisthotonas (back arching tetanic convulsions)
Seizures
coma

Choreoathetoid Cerebral Palsy
Sensineural deafness
Learning difficulties

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4
Q

Name 5 characteristic features of Downs Syndrome?

A

Trisomy 21

Flat occiput 
Third fontanelle 
Wide, flat nasal bridge
Epicanthic folds
Up-slanting mongoliod eyes (palpebral fissures) 
Brushfield spots in iris 
Low-set small ears
Small mouth – protruding tongue
Single palmar crease (simian) 
Wide Sandle gap
Incurved little finger – clinodactyly 
Hypotonia
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5
Q

Name 5 associations of Downs Syndrome?

A
Moderate to severe Learning Disabilities
Congenital heart disease – atrioventricular septal defect
Duodenal atresia
Hirschprung’s disease
Hypothyroidism 
Coeliac disease
Hearing impairment from secretory otitis media
Obstructive Sleep Apnoea 
Visual impairment from cataracts, squints, myopia (short-sightedness)
Delayed motor milestones
Short stature
↑ susceptibility to infection
↑ risk of leukaemia and testicular tumours
↑ risk of atlanto-axial instability 
Epilepsy
Alzheimer’s Disease
Infertility
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6
Q

Name 3 modes of inheritance of Downs Syndrome?

A

Meiotic Non-disjunction
Robertsonian Translocation
Mosaicism

Translocation – the extra 21 chromosome is joined onto another chromosome (normally chromosome 14)
Mosaicism – some cells are normal, some have trisomy 21 - milder phenotype. Normal zygote, with later mitotic non-disjunction

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7
Q

What is Edwards Syndrome? Name 5 features?

A
Trisomy 18  - ♀ > ♂ 
Prognosis: most die in utero, 50% die in 1 week. 
Low birth weight
Prominent occiput
Small head (microcephaly)
Low-set malformed ears
Narrow eye-lid fold, palpebral fissure
Ocular hypertelorism – wide-spaced eyes, and Ptosis
Clenched fist and overlapping fingers
Rocker-bottom feet (club feet)
Short sternum
Small jaw (micrognathia) 
Cardiac malformations – ventricular septal defect, atrial septal defect, patent ductus arteriosus
Kidney malformations
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8
Q

What is Patau Syndrome? Name 5 features?

A

Trisomy 13
Prognosis: most die within first year of life
Holoprosencephaly – failure of the forebrain to divide properly
Small head (microcephaly)
Small eyes (microphthalmia)
Cataracts, retinal dysplasia / detachment
Polydactyly
Proboscis – blind-ending tube on mid-face
Cleft lip / palate
Kidney defects
Heart defects – ventricular septal defect, patent ductus arteriosus)
Intellectual disability

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9
Q

What is Turner’s Syndrome? Name 5 features?

A

45 XO ♀ (missing / partial X chromosome)

Short stature
Webbed neck (due to cystic hygroma)
Lymphoedema of hands and feet in neonate
Wide-carrying angle (cubitus valgus)
Widely spaced nipples, shield chest
Spoon shaped nails
Low set ears
Low posterior hair-line
Short metacarpal IV
Pigmented moles
Normal Intellect 
Non-verbal learning disabilities (maths, spatial orientation)
Primary Amenorrhoea (due to ovarian dysgenesis) – infertility
Delayed puberty 
Congenital heart defects:-  coarctation of the aorta-  aortic stenosis-  bicuspid aortic valve
Renal anomolies (horse-shoe kidney)
Hypothyroidism
Diabetes
ADHD
Recurrent Otitis Media / hearing loss
Visual impairments
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10
Q

Name 3 Signs of Turner’s Syndrome at Antenatal Fetal ultrasound Scans?

A

Fetal oedema of the neck, hands and feet
Cystic hygroma
Structural defects of the heart, kidneys

Cystic hygroma is a form of benign lymphangioma – most common in the posterior triangle of the neck

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11
Q

What is Klinefelter Syndrome? Name 5 features?

A

47 XXY

Hypogonadism - ↓testosterone - ↑FSH
Micro-ochidism (small firm testes)
Infertility
Gynecomastia 
Weaker muscles
Tall stature
Poor coordination
Less body hair
Normal intelligence
Behavioural problems, delayed speech, Reading difficulties

Most common cause of male hypogonadism
Diagnosed with delayed puberty

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12
Q

Name 2 most common genetic causes of Learning Difficulties?

A

Downs syndrome

Fragile X Syndrome

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13
Q

What is Fragile X Syndrome? Name 5 features?

A

X-linked Recessive – more common in ♂
Caused by >200 trinucleotide (CGG) repeats in the FMR1 gene on the X chromosome
FMR1 – fragile X Mental retardation= gene

Female carriers have mild-moderate learning disabilities

Moderate-severe learning difficulties 
Macrocephaly
Macro-orchidism (large testicles)
Long faces
Large everted ears
Prominent mandible 
Broad forehead
Mitral valve prolapse
Joint laxity
Scoliosis
Autism
Hyperactivity
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14
Q

Name 3 genetic conditions caused by Trinucleotide Repeat Expansion Mutations?

A
Fragile X syndrome
Myotonic Dystrophy
Huntington’s Disease
Spinocerebellar ataxia
Friedreich’s ataxia 

These genetic disorders become more severe as the triplet expands

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15
Q

How is Duchenne’s Muscular Dystrophy inherited?

A

X-linked recessive ♂

Most common muscular dystrophy
Mutation (non-sense or frame-shift) in the gene coding for dystrophin on short arm of X chromosome
No dystrophin protein (normally attaches actin to the extracellular matrix to stabilise the sarcolemma (muscle cell membrane)
Influx of Ca2+ ions – causes myofibre necrosis
→ progressive muscle atrophy
Muscle weakness
Age onset – 5 years, life expectancy = 20’s

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16
Q

Name 5 Signs and Symptoms of Duchenne’s Muscular Dystrophy?

A

Waddling Gait
Gower’s sign – use their arms to ‘walk’ up their body from sitting / lying position – due to lack of hip / thigh muscle strength
Calf pseudohypertrophy – replacement of muscle by fat / fibrous tissue
Slow and Clumsy
Learning disabilities

Cardiomyopathy
Respiratory failure – due to loss of function of diaphragm and intercostal muscles – leads to death
Scoliosis

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17
Q

What blood test would you perform in Duchenne’s Muscular Dystrophy?

A

↑ creatinine kinase

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18
Q

What is Becker’s Muscular Dystrophy?

A

Milder form of Duchenne’s Muscular Dystrophy
Missense mutation of the dystrophin gene on the X-chromosome
Some Dystrophin proteins are made
Later age of onset (11 years)
↑ life expectancy

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19
Q

What is Congenital Adrenal Hyperplasia (CAH)?

A

Autosomal recessive
Defect in the gene for 21-hydroxylase enzyme – needed to make mineralocorticoids and glucocorticoids from the precursor 17-hydroxyprogesterone.

↓mineralocorticoid and glucocorticoid
no negative feedback to the anterior pituitary - ↑ACTH
increases secretion of androgens ↑

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20
Q

Name 5 feature of Congenital Adrenal Hyperplasia (CAH)?

A

Due to ↓mineralocorticoids (aldosterone):
Salt-losing crisis - Vomiting, dehydration, weight loss, floppiness, collapse

Due to ↓glucocorticoids (cortisol):
Hypoglycaemia

Due to ↑androgens
Virilisation of the external genitalia in female infants – clitoral hypertrophy, fusion of labia
In male patients, penis can be enlarged, pigmented scrotum
Precocious puberty
Non-salt losers – tall stature, muscular build, pubic hair, acne

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21
Q

Name 3 Laboratory findings of Congenital Adrenal Hyperplasia (CAH)?

A

Hypoglycaemia – (↓ glucose) – due to ↓cortisol
Hyponatraemia – (↓ sodium) – due to ↓aldosterone
Hyperkalaemia – (↑ potassium) – due to ↓aldosterone
Metabolic acidosis
↑ urea (dehydration)
↑17α-hydroxyprogesterone
↑ACTH (adrenocorticotropic hormone) – loss of negative feedback of cortisol
→ androgens ↑

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22
Q

What is the treatment of Congenital Adrenal Hyperplasia (CAH)?

A

Hydrocortisone
Fludrocortisone

Lifelong

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23
Q

Describe the Parts and Functions of the Adrenal Gland?

A

Adrenal Cortex: GFR
Zona Glomerulosa – mineralocorticoids, e.g. Aldosterone
Zona Fasciculata – glucocorticoids, e.g. cortisol
Zona Reticularis – androgens, e.g. dehydroepiandrosterone (DHEA)

Adrenal Medulla – chromaffin cells – convert tyrosine to catecholamine’s, e.g. epinephrine, norepinephrine

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24
Q

What is the risk with treating hyponatraemia quickly?

A

↑risk of cerebral pontine myelinolysis (CPM)
Damage to the myelin sheath of nerves in the brainstem (pons)
Paralysis, dysphagia, dysarthria
↑ sodium too quickly - drives water out of brain cells

Treatment of Salt-losing crisis in CAH: IV dextrose and IV hydrocortisone

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25
Name 5 Complications of Gastro-oesophageal Reflux Disease (GORD)?
Failure to thrive Sandifer’s syndrome – Distonic neck posturing Recurrent Pulmonary Aspiration – pneumonia Oesophagitis Apparent Life Threatening events (ALTE)
26
What is Noonan Syndrome? Name 5 features?
Autosomal dominant – RASopathy ``` Congenital heart defect:- pulmonary valve stenosis- atrial septal defect- hypertrophic cardiomyopathy Short stature Pectus excavatum Webbed neck Impaired blood clotting Learning difficulties ```
27
Name 3 diseases caused by Deletion Mutations?
Di Georges Syndrome (CATCH-22) Williams syndrome Cru de chat syndrome
28
What is Williams Syndrome? Name 5 features?
Microdeletion syndrome at 7q11 – autosomal dominant inheritance ``` Short stature Elf-like facies Transient hypercalcaemia in infants Supravalvular aortic stenosis Mild-moderate learning difficulties ```
29
What is DiGeorges Syndrome? Name 5 features?
Microdeletion syndrome – deletion at 22q11.2 – autosomal dominant CATCH-22 Cardiac – interrupted aortic arch, truncus arteriosus, tetralogy of Fallot Abnormal facies Thymic aplasia – recurrent infections due to ↓T cells Thymic aplasia – Thrombocytopenia Cleft Palate – problems with neuromuscular closure (velopharyngeal insufficiency) → feeding difficulties Hypoparathyroidism, hypocalcaemia → convulsions
30
How is DiGeorge’s Syndrome Diagnosed?
Genetic analysis performed using Fluorescence in situ hybridisation (FISH) – detects the microdelection on chromosome 22.
31
What is Imprinting? Name 2 conditions caused by Imprinting and 2 mechanisms of Inheritance?
Genes required for normal functioning only comes from one parent. Prada Willi Syndrome Angelman’s Syndrome Inherited by 2 ways: De novo deletion mutation Uniparental Disomy – both the chromosomes come from 1 parent, and none from the other.
32
What is Prada Willi Syndrome? Name 5 features?
Caused by failure to inherit a functioning paternal copy of the Prada Willi gene on the long arm of chromosome 15 (15q11-13) – due to de novo deletion (75%) or uniparental disomy (both copies of chromosome 15 come from mother) In infancy: Hypotonia Poor feeding (due to ↓muscle tone affecting the sucking reflex) ``` In childhood: Excessive appetite (hyperphagia) Obesity / short stature Developmental delay Hypogonadism Strabismus Low IQ Narrow forehead Thin upper lip Carp-shaped mouth Olive-shaped eyes (antimongoloid slant) / \ ```
33
What is Angleman Syndrome? Name 5 features?
Caused by failure to inherit a functioning maternal copy of the Prada Willi gene on the long arm of chromosome 15 (15q11-13) – due to de novo deletion (75%) or uniparental disomy (both copies of chromosome 15 come from father) ``` Happy disposition, laughing Little speech Severe learning disabilities Poor attention span epilepsy – variety of seizures Sleep disturbance Jerky movements – hand flapping Movement / balance disorder (ataxia)Motor developmental delay Microcephaly Strabismus Abnormal EEG – large amplitude, slow spike waves ```
34
Name 5 Cyanotic Congenital Heart Diseases?
1. Tetralogy of Fallot (ToF) 2. Transposition of the Great Arteries (TGA) 3. Truncus Arteriosus 4. Tricuspid Atresia 5. Total Anomalous Pulmonary Venous Connection (TAPVC) shunt from right to left
35
What syndrome is associated with Truncus Arteriosus?
``` DiGeorges Syndrome (22q11.2) - Truncus Arteriosus - Tetralogy of Fallot ```
36
What are the 4 features of Tetralogy of Fallot?
Pulmonary stenosis Right Ventricular Hypertrophy Large ventricular septal defect (VSD) Over-riding aorta
37
What is the characteristic X-ray finding in Tetralogy of Fallot?
Boot-shaped heart (due right ventricular hypertrophy) Reduced pulmonary vasculature (as stenosis causes ↓ pulmonary blood flow) Concave pulmonary artery on the left heart border Right sided aortic arch
38
Name 3 symptoms of heart failure?
Breathless (particularly on feeding / exertion) Poor feeding Sweating Recurrent chest infections
39
Name 3 signsof heart failure?
``` Tachycardia Tachypnoea Hepatomegaly Pulmonary oedema Heart murmur, gallop rhythm Enlarged heart Cool peripheries Poor weight gain, faltering growth ```
40
Name 4 causes of heart failure in a neonate?
Due to Left-ventricular out-flow obstruction ↑ Pulmonary resistance, R → L shunt via the ductus arteriosus (duct dependent circulation) Severe coarctation of the aorta Critical Aortic valve stenosis Hypoplastic left heart syndrome Interruption of the aortic arch
41
Name 3 causes of heart failure in an infant?
Due to high pulmonary blood flow (L → R shunts) Ventricular septal defect Atrial septal defect Patent ductus arteriosus
42
Name 3 causes of heart failure in older children / adolescents?
Eisenmenger syndrome (reversal of shunt causing R → L shunt) Rheumatic heart disease cardiomyopathy
43
Name 5 causes of cyanosis in a neonate?
Congenital heart disease: tetralogy of fallot transposition of great arteries ``` Respiratory diseases: Respiratory distress syndrome Persistent pulmonary hypertension of the newborn Meconium aspiration Pulmonary hypoplasia ``` Infection: Group B streptococcus Metabolic acidosis
44
What is birth asphyxia?
Deprivation of oxygen to the neonate (<4 weeks old), that lasts long enough to cause physical harm (usually to the brain)
45
Name 5 Signs of Dehydration?
``` Reduced level of consciousness ↓ Sunken fontanelle Sunken eyes Dry mucous membranes Reduced urine output ↓ Reduced skin turgor ↓ Tachycardia ↑ Tachypnoea ↑ Low blood pressure ↓ Increased capillary refill time ↑ Cool peripheries Faint / impalpable pulse ``` Mild dehydration = <5% Moderate = 6-9% Severe = >10%
46
How do you calculate Maintenance Fluids? Calculate the 24 hourly amount for a 26kg, 7 year old girl?
First 10kg = 100ml/kg/24 hour Second 10kg = 50ml/kg/24 hour Subsequent kilograms = 20ml/kg/24 hour 1620ml 0.9%NaCl +5% dextrose
47
Name 3 factors which contribute to Airway narrowing in Asthma?
Bronchial muscle contraction Mucosal swelling / inflammation – caused by mast cell / basophil degranulation → release in inflammatory mediat Increased mucus production
48
Name 3 features of a Severe Asthma Attack?
Inability to complete sentences / feed Pulse > 140bpm Respiratory Rate > 40/min if <5yrs, >30/min if 5-12yrs, >25/min if >12yrs Peak Flow = 33-50% predicted
49
Name 3 features of Life Threatening Asthma?
``` Silent Chest Fatigue / exhaustion / confusion / LOC / coma Cyanosis Peak flow <33% predicted Poor respiratory effort ``` Near fatal attack – PaCO2 ↑
50
Name 3 features of ADHD? Name 3 other symptoms?
Triad: Inattention - problems paying attention Hyperactivity - excessive activity Impulsiveness - difficulty controlling behaviour ♂ (behaviour is not appropriate for age) Cause problems in 2 different settings (e.g. school, home) Symptoms present > 6 months ``` Impaired concentration Distractibility Difficulty taking turns Social disinhibition – poor relationships Fidgety Disorganised Short-tempered Poor recall of past or future planning ```
51
What is the treatment of ADHD?
Mild – moderate ADHD: Behavioural psychotherapy / CBT Parenting behavioural training (e.g. rewards) Teacher classroom management Severe ADHD: (Medication) Stimulants (↑ dopamine) - Methylphenidate (Ritalin) - Dextroamphetamine Side effects: Dry mouth Loss of appetite Insomnia
52
What is Erythema Multiforme associated with? Describe the Rash?
Rash with target lesions with a surrounding red ring Causes: Drug reactions – penicillin, NSAIDs, Phenytoin Infection – atypical pneumonia, herpes simplex virus (cold sores) Idiopathic
53
What is the criteria for Rheumatic Fever?
JONES Criteria: Evidence of a recent Group A β-haemolytic streptococci (Strep Pyogenes) + 2 major criteria or 1 major + 2 minor criteria Major: Joints – polyarthritis, migratory, larger joints Obvious – carditis Nodules – subcutaneous nodules Erythema marginatum – rash with raised edges and a clear centre Syndenham’s Chorea ``` Minor: Inflammatory cells - leuocytosis Temperature ESR + CRP Raised PR interval Itself – Previous Rheumatic Fever Arthralgia ```
54
Name 2 complications of Eczema and the causative organisms?
Cellulitis (bacterial super infection) – caused by gram positive cocci (staphylococcus aureus, streptococci). Treat with – flucloxacillin Eczema Herpeticum – caused by herpes simplex virus Treat with – Acyclovir
55
What organism causes Chicken Pox? What organism causes Shingles?
Chicken pox – varicella zoster virus - reactivation of this virus, which lies dormant in the dorsal root ganglion causes Shingles. Shingles – herpes zoster virus
56
Name 3 Complications of Varicella Zoster Infection (Chicken Pox)?
Secondary bacterial infection (staphylococcus aureus, group A streptococcus) → toxic shock syndrome, necrotising fasciitis Encephalitis, cerebellitis, aseptic meningitis Disseminated intravascular coagulation (DIC) Purpura fulminans
57
Name the conditions in the Fraser Guidelines? What is this used for?
To give contraception to young people under 16 years. The professional must be satisfied that: the young person understands the professional’s advice The young person cannot be persuaded to inform their parent The young person is likely to begin / continue having sexual intercourse with or without contraception Unless the person receives contraceptive treatment, their physical or mental health are likely to suffer Offering contraception is in the young person’s best interest
58
What is Gillick Competence?
When making medical decisions involving consent, a child < 16 years, must be: Able to understand the advice give With sufficient maturity to understand what is involved (N.B. even though a child under the age of 18 can consent to treatment if they show the ability/maturity, they can not refuse medical treatment that is in their best interests)
59
Name 3 causative organisms for Meningitis in infants <3 months old?
Group B streptococcus (streptococcus agalactiae) E.Coli (Escherichia Coli) Listeria monocytogenes
60
Define Cerebral Palsy? Name the 3 types?
an abnormality of movement and posture Causing activity limitation due to a non-progressive disturbance that occurred in the developing fetal or infant brain (up to age 2 years). Spastic cerebral palsy – damage to UMN pathway Dyskinetic (Athetoid) cerebral palsy – damage to basal ganglia Ataxic cerebral palsy – damage to cerebellum
61
What age group do Febrile convulsions occur in? Name the 2 types?
Age 6 months – 5 years due to a rapid rise in fever Simple febrile seizures: Generalised tonic-clonic seizures Brief (usually last < 15 minutes) Single episode ``` Complex febrile seizures: Focal onset Last > 15 minutes Repeated (>1 seizure in 24 hrs) ↑risk of epilepsy ```
62
Name 5 Epilepsy Syndromes common in childhood?
Infantile spasms - West Syndrome Lennox-Gastaut Syndrome Absence Seizures Juvenile Myoclonic Epilepsy Benign epilepsy with centrotemporal spikes (BECTS) Early-onset Benign childhood occiplital epilepsy (Panayiotopoulos type)
63
Name 4 features of an innocent murmur?
``` InnoSent Murmurs: aSymptomatic patient Soft blowing murmur Systolic murmur Left Sternal edge Normal heart sounds, with no added sounds No parasternal thrill or heaves No radiation ```
64
Name the cause and 3 symptoms of Toxic Shock Syndrome?
Due to toxin-producing staphylococcus aureus, Group A streptococcus Fever > 39°C Hypotension Diffuse erythematous macular rash + Organ dysfunction (mucositis, GI, Renal, Liver, Clotting, CNS)
65
What is the treatment of Toxic Shock Syndrome?
Third generation cephalosporin (ceftriaxone) Clindamycin (aminoglycoside – inhibits protein synthesis - ↓toxin production) Intravenous Immunoglobulin (IVIG) – neutralise the toxin
66
Name 3 Causes of Conductive Hearing Loss?
Otitis media with effusion Ear-wax Eustachian tube dysfunction:- Downs syndrome- Cleft Palate- Pierre Robin Sequence (congenital causes of abnormal facies)- Mid-facial hypoplasia Weber’s test – sound lateralises (louder in) affected ear Rinnie’s test – Bone conduction > air conduction Rinnie’s test (normal / positive) – air conduction > bone conduction Weber’s test (normal) – sound heard equally in both ears a child with conductive hearing loss, only receives sound from bone conduction – so it is perceived to be louder
67
Name 3 Causes of Sensorineural Hearing Loss?
``` Antenatal: - congenital infection – Rubella - pre-term - Hypoxic Ischaemic Encephalopathy - hyperbilirubinemia ``` Meningitis / encephalitis Head injury Drugs (aminoglycosides – gentamicin, furosemide) Neurodegenerative disorders Weber’s test – sound lateralises (louder in) normal ear Rinnie’s test – air conduction > bone conduction (both reduced)
68
Name 2 Causes of asplenism? What sign do you see on the blood smear?
Splenectomy Sickle cell disease Coeliac disease Howell-Jolly bodies – basophilic nuclear remnants in the cytoplasm (normally removed by the spleen)
69
Name 2 Risk Factors for Pneumococcal Infection?
Hyposplenism – impaired opsonisation of encapsulated organisms Nephrotic syndrome – leakage of immunoglobulins from the blood, and oedema Unvaccinated Pneumococcal is an encapsulated organism – macrophages in the spleen normally phagocte
70
How is Nephrotic Syndrome Diagnosed?
``` Proteinuria >1g/m2/24hrs, >40mg/m2/1hr, >3.5g/24hrs Serum albumin <25g/L (hypoalbuminaemia) Oedema - periorbital oedema (on waking) - scrotal / vulval oedema ```
71
Name 3 features which suggest Steroid-sensitive Nephrotic syndrome?
``` Age between 1 – 10 years No macroscopic haematuria Normal blood pressure Normal complement levels Normal renal function ``` ``` Indications for Renal Biopsy: Age <12 months, >12 years Macroscopic haematuria Raised blood pressure Decreased complement levels Reduced renal function Failure to respond to 1 month of daily steroid therapy ```
72
Name 3 symptoms of Measles?
``` Cough Coryza Conjunctivitis Koplik spots Fever Maculopapular rash – starts behind ears and spreads to body, (desquamates during second week) ```
73
Name 3 complications of Measles?
``` Encephalitis Subacute sclerosing panencephalitis (SSPE) – occurs ∞ 7 years after infection - virus persists in the CNS and causes ↓neurological function → dementia → death Seizures, febrile convulsions Pneumonia, tracheitis Secondary bacterial infection Corneal ulceration Myocarditis Hepatitis Appendicitis ```
74
Name 3 symptoms of Mumps?
``` Fever Malaise Parotitis - bilateral parotid gland swelling: - difficulty eating / drinking - ear ache Hearing loss (unilateral, transient) ```
75
Name 3 Complications of Mumps?
``` Pancreatitis (serum amylase is raised) Orchiditis Encephalitis Viral meningitis Rarely oophoritis, mastitis ```
76
Name 3 Signs & Symptoms and 3 complications of Rubella?
Maculopapular rash – starts on the face → body Post-auricular and Suboccipital lymphadenopathy Low grade fever ``` Complications: Arthritis Encephalitis Thrombocytopenia myocarditis ``` Avoid pregnant women – congenital diseases
77
What are the signs and symptoms of congenital rubella?
The classic triad for congenital rubella syndrome is: Sensorineural deafness Eye abnormalities—especially retinopathy, cataract, and microphthalmia Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus Other manifestations: ``` Spleen, liver, or bone marrow problems (some of which may disappear shortly after birth) Intellectual disability Small head size (microcephaly) Eye defects Low birth weight Thrombocytopenic purpura Extramedullary hematopoiesis (presents as a characteristic blueberry muffin rash) Hepatomegaly Micrognathia ``` ``` Children who have been exposed to rubella in the womb should also be monitored for: Developmental delay Autism Schizophrenia Growth retardation Learning disabilities Diabetes mellitus Glaucoma ```
78
Name 3 treatments for Nocturnal Enuresis?
Explanation to child and parents Star chart – rewards each morning if the bed is dry Enuresis alarm – sensor which sounds if it gets wet Desmopressin – short term Self-help groups
79
Name 5 causes of stridor?
Croup (laryngotracheobronchitis) Epiglottitis Laryingomalacia Bacterial tracheitis (pseudomembranous croup) foreign body Allergic laryngeal angioedema (anaphylaxis) Retropharyngeal abscess Infectious mononucleosis with lymph node swelling Hypocalcaemia due to poor vitamin D intake Inhalation of smoke / hot air in fires Trauma to the throat
80
What is the triad of Henoch-Schonlein Purpura (HSP)?
Purpura – buttocks / extensor surface of legs and arms / ankles Arthritis Abdominal pain ``` Haematuria and proteinuria Periarticular oedema Haematemesis Malaena Intussusception ``` Preceded by viral upper respiratory tract infection HSP is a vasculitis, often preceded by a throat infection / URTI. HSP affects boys, aged 3-10yrs
81
What is the triad of symptoms in Haemolytic Uraemic Syndrome (HUS)?
Microangiopathic haemolytic anaemia Acute renal failure Thrombocytopenia Prodromal infectious bloody diarrhoea Usually follows verocytotoxin-producing Escherichia Coli strain O157:H7 (E.coli O157:H7) Contact with farm animals
82
What is Bartter’s Syndrome?
autosomal recessive - affects the thick ascending loop of Henle - NKCC2 channel like loop diuretics (furosemide) - Less reabsorption of Na+, K+, Cl- back into the renal tubule. Hypokalaemic metabolic alkalosis Hypercalciuria Normal / low blood pressure - ↑renin Polydipsia / polyuria Growth failure
83
What is Liddle's syndrome?
Autosomal dominant affects the ENaC channels in the collecting ducts Like ↑aldosterone – excess sodium reabsorption (hypertension), and excess potassium excretion (hypokalaemia) Rx – potassium-sparing diuretics
84
What is Gitelman's Syndrome?
Autosomal recessive Affects the NCC (sodium chloride cotransporter) in the distal convoluted tubule Like thiazide diuretics, less sodium and chloride reabsorption - hypotension Hypochloremic metabolic alkalosis, hypokalemia, hypomagnesemia, hypocalcuria polyuria, polydipsia, dehydration
85
What is the first sign of Puberty in Females and Males?
Females – breast development Thelarche → adrenarche → menarche Males – testicular enlargement
86
Name 3 signs of atrial septal defect on auscultation?
Ejection systolic murmur at the left upper sternal edge – due to increased blood flow through the pulmonary valve Splitting of the second heart sounds – due to right ventricular stroke volume being equal in both inspiration and expiration In partial AVSD, abnormal atrioventricular valves – pansystolic murmur (regurgitation)
87
What murmur is heard in Ventricular septal defect?
Pansystolic murmur, heard best at lower left sternal edge ``` Small VSDs (smaller than aortic valve) = loud pansystolic murmur Larges VSDs (larger than the aortic valve) = soft pansystolic murmur ```
88
Define Patent Ductus arteriosus (PDA)? Give 2 signs of PDA?
``` Ductus arteriosus (connecting the pulmonary artery to the descending aorta remains open for 1 month after the expected date of delivery. More common in pre-term infants ``` Continuous machinery murmur, head best under the left clavicle Increased pulse pressure – collapsing, bounding pulse
89
Define Diabetic Ketoacidosis?
Hyperglycaemia (>11.1mmol/L) pH < 7.3 (metabolic acidosis) Urinary Ketones / ketonaemia Bicarbonate (<15mmol/L)
90
Name 5 symptoms of Diabetic Ketoacidosis?
``` Excessive thirst. Frequent urination. Nausea and vomiting. Abdominal pain. Weakness or fatigue. Shortness of breath. Confusion ```
91
Name 5 signs of Diabetic Ketoacidosis?
``` signs of dehydration - e.g. reduced skin turgor tachycardia tachyopnoea - kussmaul breathing hypotension ketotic breath confusion ```
92
Define precocious puberty?
The development of secondary sexual characteristics: in girls <8 years old In boys <9 years old
93
Name 5 causes of precocious puberty?
Girls causes – most likely idiopathic Boy causes – most likely organic – intracranial tumours Gonadotrophin dependent (↑↑LH > ↑FSH): ``` Idiopathic / familial CNS abnormalities: - congenital - hydrocephalus - acquired – irradiation, infection, surgery Intracranial tumours Hypothyroidism ``` Gonadotrophin independent (↓LH, ↓FSH) : ``` Adrenal disorders: - congenital adrenal hyperplasia Ovarian tumour – granulosa cell Testicular tumour – leydig cell Exogenous sex steroids ```
94
What is the first-line Treatment for Menorrhagia?
First Line: Levonorgestrel-releasing Intrauterine System (Mirena coil) Second Line: Tranexamic acid (anti-fibrinolytic) Mefanamic acid (NSAIDs) Combined Oral Contraceptive pill (COCP) Third Line: Oral progestogens Gonadotrophin-releasing hormone agonist (GnRH analogues)
95
What is Endometriosis? Name 5 signs and Symptoms?
Endometrium outside the uterus ``` Pelvic Pain Dysmenorrhea Dyschezia Dysuria Dysparunia ``` Subfertility
96
Name 5 Risk Factors for Endometrial Cancer?
Nulliparity Obesity – peripheral conversion of androgens to oestrogen Polycystic Ovarian Syndrome (PCOS) – prolonged amenorrhea / infertility Early menarche / Late menopause Oestrogen-secreting tumours (Ovarian granulosa cell tumours) Excess Exogenous Oestrogen: Tamoxifen (SERM) – oestrogen agonist in endometrium Other: Diabetes Hypertension Lynch II syndrome (↑ risk of colon, ovarian, endometrial cancer) Cowden Syndrome (↑ risk of breast, thyroid, endometrial, kidney cancer) Lynch II syndrome (hereditary non-polyposis colorectal cancer HNPCC – type 1) – autosomal dominant - a mutation in a mismatch repair gene – cell cannot correct mistakes in the DNA. Cowden syndrome – autosomal dominant – causes cancerous growths called harmatomas – mutation in a tumour suppressor protein
97
Name 3 Protective Factors for Endometrial Cancer?
Combined Oral Contraceptive Pill (COCP) – progestogen and oestrogen Smoking Grand-parity (>5 children) Breast feeding
98
What causes Kallmann’s Syndrome? Name 2 main features?
A form of hypogonadotropic hypogonadism – caused by a failure of GnRH releasing hormones to migrate to the hypothalamus. No GnRH is released → no FSH or LH is released from the Anterior pituitary → hypogonadism Hypogonadism → failure to start puberty Infertility Anosomnia (failure to smell)
99
Describe 5 effects of Oestrogen?
Stimulates endometrial growth (proliferation of glandular and stromal parts of the endometrium) Increases the progesterone receptors in the endometrium Stimulates production of thin cervical mucus - easily penetrated by sperm bone resorption Increases fat deposition
100
Describe 5 effects of Progesterone?
Creates secretory changes of the endometrium Decreases the contractility of the uterus Inhibits lactation Suppresses maternal immune response – prevents rejection of fetus ↑ increases respiratory rate ↑ increases sodium excretion ↓ bowel motility ↑ increase in body temperature
101
Describe how the Combined Oral Contraceptive Pill works?
Causes a negative feedback of GnRH release - ↓FSH /↓LH – inhibits ovulation Thins the endometrium Thickens the cervical mucus
102
Name 3 Risk Factors for Fibroids?
Fibroids are oestrogen-dependent (regress after menopause) Nulliparity Older Women – more common near menopause Afro-Caribbean Fibroids – leiomyomata – benign smooth muscle tumours of the myometrium Combined Oral Contraceptive Pills are protective
103
Name 3 Complications of Fibroids?
Torsion of pedunculated fibroids Red degeneration – (fibroid outgrows its blood supply) – common in pregnancy Hyaline / cystic degeneration (fibroid is soft, liquidified) Calcification Leiomyosarcoma (malignancy) Pressure effects
104
Name 3 Causes of Secondary Amenorrhoea / Oligomenorrhoea?
Premature Menopause Polycystic Ovarian Syndrome (PCOS) Hyperprolactinaemia
105
Name 3 methods for Termination of Pregnancy (ToP)?
Surgical Termination: - (7-13 weeks) – Suction Curettage - (>13 weeks) – Dilatation and Evacuation Medical Termination (usually <7weeks, 7-9 weeks): - Mifepristone (antiprogesterone) - Misoprostol (prostaglandin E1 analogue) (>22 weeks) – inject KCl into umbilical vein or fetal heart - usually due to fetal abnormality
106
Name 3 Complications of Termination of Pregnancy (ToP)?
``` Infection Bleeding Uterine perforation Cervical trauma Failure of abortions Psychological sequelae Unsafe abortions – maternal deaths Multiple abortions → increased risk of subsequent pre-term ```
107
Name 3 Statutory Grounds for Termination of Pregnancy (ToP)?
Abortion Act 1967 states 2 doctors must agree that a women fits the criteria: - Continuing the pregnancy would involve more risk to the life of the pregnant women more than if the pregnancy was terminated. - Termination is necessary to prevent grave permanent injury to the physical / mental health of the pregnant woman - Pregnancy <24 weeks, and continuing pregnancy would have increased risk to the physical / mental health of the pregnant woman. - Pregnancy <24 weeks, and continuing pregnancy would have increased risk to the physical / mental health of any existing children of the family of the pregnant women - There is substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be serious handicapped. Every abortion must be notified to department of health
108
Name 3 risk factors for Cervical Cancer?
Increased number of sexual partners Having Sexual contact at an earlier age Oral contraceptive Pill use Smoking Immunocompromised - HIV, long-term steroid usage, transplant patients Not vaccinated Not attending regular cervical cancer screening (Pap smear tests)
109
Name type of carcinoma is Cervical Cancer? Which part of the cervix does it occur?
Squamous cell carcinomas (90%) Occurs in the transformation zone – where the endocervix (columnar epithelium and the ectocervix meet (squamous epithelium) – squamocolumnar junction. other adenocarcinoma (from the columnar epithelium) – worse prognosis
110
What is the treatment of Cervical intraepithelial neoplasia CIN II/III)?
Large loop excision of the transformation zone (LLETZ), also called diathermy loop excision. Complications: (same as Cone biopsy) Post-operative haemorrhage Subsequent pre-term birth
111
Name 3 Symptoms of Cervical cancer?
``` Postcoital bleeding (PCB) Offensive vaginal discharge Intermentstrual bleeding (IMB) Post-menopausal bleeding (PMB) Incidental finding from biopsy screening – occult carcinoma ``` Signs: Ulcer Visible mass on cervix ``` Involvement of: Ureters – uraemia Bladder – haematuria Rectum – rectal bleeding Nerves – pain ```
112
What system is used to stage Cervical cancer?
International federation of Gynaecology and Obstetrics (FIGO) classification Stage 1 – lesions confined to the cervix 1a – diagnosed with microscope - (1ai - Rx with cone biopsy) 1b – clinically visible lesions Stage 2 – Invasion in to the vagina, but not the pelvic side 2a – involvement of upper 2/3 of vagina 2b – involvement of the parametrium Stage 3 – Invasion into the lower vagina or pelvic wall, or causing ureteric ……………..obstruction Stage 4 – invasion of the bladder or rectal mucosa, or beyond the true pelvis
113
What does Wertheim’s hysterectomy involve?
Pelvic node clearance Hysterectomy Removal of the parametrium Upper third of the vagina ``` Complications: Haemorrhage Ureteric / bladder damage Fistulae Voiding problems Accumulation of lymph ``` Used for treatment of cervical cancer
114
What is the parametrium? Name 3 structures found in the parametrium?
Parametrium – fibrous tissue which separates the supravaginal part of the cervix from the bladder. ``` The parametrium contains the: Ovarian ligament Uterine artery Ureters Connective tissue ``` Involvement of the parametrium in cervical cancer, upgrades the stage – 2b
115
What is a Radical Trachelectomy?
Removal of the cervix and upper vagina Used in women who wish to conserve fertility Used in stage Iaii and Ibi (tumour is <20 mm)
116
Name 5 complications of In Vitro Fertilisation?
``` Maternal: Ectopic pregnancy Pre-eclampsia Pregnancy-induced hypertension Complications whilst collecting the eggs – intraperitoneal haemorrhage, pelvic infections ``` ``` Fetal: Twins or multiple Low birth weight (LBW) Small for gestational age (SGA) Congenital abnormalities Perinatal morbidity / mortality ```
117
Give 2 indications for medical management of Ectopic Pregnancy?
No audible / visible fetal heart beat (no cardiac activity) β-hCG level < 3000 IU/ml <35mm mass unruptured ectopic – no acute signs / symptoms
118
What is the diagnostic criteria for Polycystic Ovarian Syndrome (PCOS)?
Two or more of the following: ovarian cysts on ultrasound - >12 small follicles (2-8mm) - enlarge ovary volume (>10ml) Irregular periods (>35 days or 5 weeks apart) Evidence of raised androgens: - clinical – acne, hirsutism - biochemical – raised serum testosterone
119
Name 3 Risk Factors for Ovarian Cancer?
Due to continuous ovulation: ``` Nulliparity Early menarche / late menopause Family History BRCA 1/2 genes Lynch II syndrome (↑ risk of colon, ovarian, endometrial cancer) ```
120
Name 3 Protective Factors for Ovarian Cancer?
Factors which interrupt ovulation: Pregnancy Breast feeding / lactation Combined Oral Contraceptive Pill (COCP)
121
Name 3 features of an ovarian mass, which are suggestive of Malignancy?
``` Rapid growth, >5cm Ascites Advanced age (>55 years) Bilateral masses Solid / septate nature on ultrasound Increased vascularity ```
122
What Virus and strains cause genital warts?
Human Papilloma virus (HPV) strains 6 and 11 Strains 16, 18, 31, 33 cause Cervical intraepithelial neoplasia (CIN) and cervical cancer
123
Name 3 types of Gestational Trophoblastic disease? Name 2 risk factors?
Hydatidiform mole: - Complete mole – paternal origin, sperm fertilise empty oocyte + …mitosis (46 XX, 46 XY) - Partial mole – 2 sperm fertilise one oocyte (69 XXY) Invasive mole – locally invades uterus Choriocarcinoma – metastatic Gestational trophoblastic neoplasia (GTN) – persistent elevated hCG Risk Factors: Extremes of maternal age Asian Previous Gestational trophoblastic disease
124
Name 3 complications of Ovarian Torsion?
``` Infection Peritonitis Chronic pain adhesions Sepsis Infertility ```
125
Name 3 causes of raised Alpha-fetoprotein (AFP) in the maternal serum?
Fetal causes: (any break in fetal skin) Open neural tube defect – spina bifida, anencephaly Abdominal wall defects Multiple gestation Maternal causes: Placental abruption Tumour markers – hepatocellular carcinoma, endodermal sinus tumour (yolk sac carcinoma), germ cell tumour, neuroblastoma
126
What does Cytomegalovirus Infection during Pregnancy Cause?
``` Infection in neonate leads to: Hearing and vision problems Mental retardation and learning disabilities Fetal hydrops Intra-uterine growth restriction Microcephaly Thrombocytopenia pneumonia ```
127
What does Rubella Infection during Pregnancy Cause?
For Pregnant Woman: Non-specific flu Macular rash (face → body) ``` For Fetus (effects are worse if infection is in earlier gestation) Sensineural deafness Cataracts Congenital heart disease Learning difficulties Hepatosplenomegaly Microencephaly ``` Spread via droplet route MMR vaccine is live – therefore contraindicated during pregnancy
128
What are the Fetal effects of Toxoplasmosis Infection? | What is the Treatment?
``` For Fetus (effects are worse if infection is in earlier gestation) Miscarriage / Still-birth Mental impairment convulsions Deafness Blindness Hydrocephalus ``` Treatment - Spiramycin
129
Name 3 features of Fetal Varicella Syndrome?
Dermatomal skin scarring Limb hypoplasia Neurological defects Eye defects Exposed mothers are treated with varicella zoster immune globulin (VZIG) and aciclovir
130
Name 3 Risks of pregnant women with HIV?
Pre-eclampsia Gestational Diabetes Still-birth Intra-uterine Growth restriction (IUGR) Prematurity Vertical transmission in-utero, during delivery, or breastfeeding
131
Name 3 methods to reduce Vertical Transmission of HIV?
Maternal highly active anti-retroviral therapy (HAART) – zidovudine Neonatal anti-retroviral therapy Avoid Breastfeeding Elective Caesarean Section
132
Name 3 Infections which are suitable for Screening in Pregnancy?
HIV Syphillis Hepatitis B Rubella screening has been taken out since April 2016
133
What is the main concern with Maternal Infection with Parvovirus B19?
Parvovirus B19 suppresses fetal erythropoiesis → fetal anaemia → fetal hydrops Fetal death in 10% when infection is before 20 weeks gestation
134
Name 5 Causes of Polyhydramnios?
``` Maternal Causes: Gestational Diabetes TORCH infections Rhesus Immunisation Renal Failure Chorioangioma of the placenta Twin-twin transfusion syndrome ``` Fetal Causes: Upper GI obstruction (oesophageal atresia, diaphragmatic hernia) Swallowing difficulties (facial cleft, anencephaly) Fetal renal disorders (Bartter’s syndrome)
135
Name 3 Risk Factors for Neonatal Group B Streptococcus (GBS) Infection?
GBS – Group B streptococcus Early onset Infection (<7 days) Maternal colonisation with GBS (Streptococcus Agalactiae) Premature Birth (<37 weeks) Prolonged Rupture of Membranes (>18 hours) Intrapartum Maternal Fever (>38°C) Young maternal age Amniotic Infections (chorioamnionitis)
136
Define Pre-eclampsia?
Blood Pressure >140/90 mmHg - two separate readings - taken 4-6 hours apart - after 20 weeks gestation- individual with previously normal Blood Pressure Proteinuria >0.3 grams of protein in 24-hour urine
137
Describe the pathophysiology of Pre-eclampsia?
Abnormal trophoblastic invasion of the decidua and spiral arterioles Spiral arterioles have atheromatous lesions and fail to vasodilate ↓ utero-placental blood flow Ischaemic placenta releases inflammatory factors → endothelial cell damage: Vasoconstriction – hypertension, eclampsia, liver damage Increased vascular permeability – proteinuria, oedema Clotting Abnormalities
138
Name 5 Causes of Fetal Hydrops?
Immune causes: Anaemia Haemolysis (due to Rhesus Disease) Non-immune Causes: Chromosomal abnormalities (Trisomy 21) Structural abnormalities (e.g. pleural effusions, fetal tumors – congenital cystic adenomatoid malformation) Cardiac abnormalities, arrhythmias Anaemia (due to parvovirus B19, fetomatermal haemorrhage, thalassemia) Twin-twin transfusion syndrome Fetal Hydrops: when fluid accumulates in 2 or more fetal compartments (subcutaneous tissue, pleura, pericardium, ascites) Normally due to fetal anaemia – heart needs to pump a much greater volume of blood to deliver the same amount of oxygen – leads to increased cardiac output and oedema. Parvovirus B19 suppresses fetal erythropoiesis – leading to anaemia Anaemia is detected by increased blood flow velocity in the fetal middle cerebral artery
139
What are the most common causes of Death in Pregnancy?
Hypertensive Disorders of Pregnancy (Pre-eclampsia, eclampsia, gestational hypertension and chronic hypertension) Post-partum bleeding Puerperal Infections
140
Name 5 Symptoms of Pre-eclampsia?
Hypertension (>140/90mmHg) – due to ↑ peripheral resistance Proteinuria (>0.3g/24h) – due to ↑ vascular permeability Intra-uterine Growth Restriction (IUGR) – due to ↓ placental blood flow Eclampsia (seizures) – due to ↓ cerebral perfusion Headaches Visual problems Oedema Epigastric pain ↑ liver enzymes Clotting → DIC BP = CO x TPR
141
Name 5 signs of Pre-eclampsia?
``` Hyper-reflexia Clonus Epigastric tenderness Papilloedema Peripheral oedema Fetal size not compatible with stage of pregnancy Confusion / pre-coma ```
142
Name 5 Risk Factors for Pre-eclampsia?
``` Nulliparity Previous history of pre-eclampsia Family History of pre-eclampsia Older maternal age Chronic hypertension Diabetes Mellitus Twin Pregnancies Autoimmune Disease Renal Disease Obesity Antiphospholipid Antibody Syndrome ```
143
How can Pre-eclampsia be prevented in High-risk Patients?
Oral low-dose aspirin (75g) | Regular blood pressure and urinalysis checks for high-risk patients
144
Name 5 maternal Complications of Pre-eclampsia?
``` Eclampsia – grand-mal seizures Cerebrovascular accident (CVA) HELLP Syndrome Disseminated Intravascular Coagulation (DIC) Liver Failure Renal Failure Pulmonary Oedema ```
145
What is HELLP Syndrome?
Haemolysis → dark urine, ↑lactic dehydrogenase (LDH), anaemia Elevated Liver enzymes → epigastric pain, liver failure, abnormal clotting Low Platelets Nausea & vomiting Epigastric / RUQ pain – due to stretching of the liver capsule Complications → DIC, renal failure, placental abruptions Caused by activation of the coagulation system, LDH is released in haemolysis (tissue break down) Treatment = delivery of the fetus
146
Name 5 Fetal Complications of Pre-eclampsia?
``` Still-birth Pre-term birth Intra-uterine growth restriction (IUGR) before 34 weeks Hypoxia Placental abruption ```
147
Name 5 blood test results in Pre-eclampsia?
↑ uric acid Haemoglobin ↑ ↓ Platelets → platelets aggregate on damaged endothelium LFT ↑ – ALT (alanine aminotransferase) – (liver damage or HELLP) Renal Function: Creatinine ↑ (renal failure) Lactase dehydrogenase (LDH) ↑(haemolysis or liver damage) Urine protein:creatinine ratio for PCR – (faster than 24-hour urine)
148
What is Pre-eclampsia treated with?
Delivery is the cure – as placenta is the origin of disease Antihypertensive Drugs: - labetalol (α and β adrenergic blocker) - Nifedipine (calcium channel blocker) Antenatal steroids – promote fetal lung maturity if gestation is < 34 weeks Prevention of eclampsia – seizures Methyldopa, hydralazine (vasodilator) can also be used ACE inhibitors are not used in 2nd / 3rd trimester – abnormalities
149
What is Eclampsia treated with?
Lie patient flat on a left lateral tilt – to prevent aorto-caval compression, and choking due to vomiting Protect the airway Magnesium sulphate – cerebral membrane stabiliser - ↑ cerebral perfusion - (also used as a prophylaxis to prevent eclampsia) After mother is stable: Repeat maternal BP Monitor fetal heart rate Magnesium toxicity can lead to hypotension and respiratory depression – but this is preceded by loss of patella reflexes, so reflexes are tested regularly
150
Name 5 indications for a Caesarean Section?
Maternal: 2 previous Lower Segment C-section (LSCS), previous vertical uterine scar Placenta Praevia Maternal disease / Maternal request Primary maternal herpes simplex (Type 2) virus (HSV) infection (within 6 weeks of delivery), or primary genital lesions at delivery. HIV positive pregnant women ``` Fetal: Breech and Abnormal lie Twins – malpresentation of first twin Fetal distress Cord prolapse ```
151
Name 5 Fetal risks associated with Gestational Diabetes?
Macrosomia (large for gestational age – ↑ induction of labour, operative delivery and caesarean section) Shoulder dystocia – and other birth injuries Neonatal hypoglycaemia – (due to pancreatic hyperplasia of the β cells → hyperglycaemia and fat deposition) ↑ urine output → Polyhydramnios → malpresentation ↓ fetal lung maturity Neural Tube / Cardiac / Skeletal defects
152
Name 5 Maternal risks associated with Gestational Diabetes?
``` Pre-eclampsia Pre-term labour Still-birth Miscarriage ↑risk of developing Type II diabetes ↑insulin requirement – overmedication → hypoglycaemia Urinary / wound / endometrial infections post-delivery Diabetic ketoacidosis Diabetic retinopathy / nephropathy ↑ischaemic heart disease ```
153
Define the Trimesters of Pregnancy?
First Trimester – Conception to 12 weeks Second Trimester – 12 weeks to 28 weeks Third Trimester – 28 weeks to 40 weeks / Delivery
154
Name 5 Risks of Obesity in Pregnancy?
``` Thromboembolism Pre-eclampsia – increases fetal mortality Gestational diabetes Caesarean section Wound infections Post-partum haemorrhage Difficult surgery Congenital abnormalities – (neural tube defects) ```
155
What is the diagnostic Criteria for Antiphospholipid Syndrome?
1 clinical event + 2 antibody blood test (spaced 3 months apart) Clinical Criteria: - vascular thrombosis - 1 fetal death > 10 weeks - 3 fetal losses < 10 weeks - pre-eclampsia - IUGR Laboratory Criteria: - Lupus anticoagulant - anticardiolipin antibody - anti-β2 glycoprotein antibody Antiphospholipid syndrome – characterised by CLOTS – Coagulation defect, Livedo reticularis, Obstetric (recurrent miscarriages), Thromboctyopenia Treatment = aspirin and LMWH
156
What can be done to reduce the risk of Venous Thromboembolism in pregnancy?
Encourage mobilisation Maintain hydration Compression stocking Thromboprophylaxis – low molecular weight heparin (LMWH) - given for 6 weeks to high risk (antenatal use or previous VTE) - given for 1 week to intermediate risk, and those with 2 moderate risk
157
What can be used to treat Hyperthyroidism in Pregnancy?
Propythiouracil (PTU) Carbimazole is not used in pregnancy because: - it affects oestrogen production - crosses the placenta – causes congenital defects and neonatal aaahypothyroidism PTU also crosses the placenta – can cause neonatal hypothyroidism
158
Define Low Birth Weight (LBW)?
< 2.5kg Normal Birth Weight = 2.5kg – 4.2kg Low Birth Weight (LBW) = <2.5kg Very Low Birth Weight (VLBW) = <1.5kg Extremely Low Birth Weight (ELBW) = <1kg
159
Define a Small for Dates? Give 2 Causes:
fetus which is less than the 10th centile for weight at any gestational age Also known as small for gestational age (SGA) and can lead to a Low birth weight (LBW) IUGR (Intrauterine Growth Restriction) Constitutionally Small – genetic trait Large for gestational age – babies above the 90th centile for weight at any gestational age
160
Define Intrauterine Growth Restriction (IUGR)?
Small compared to its genetic determination Fetus is not able to achieve its genetically determined potential size Compromised
161
Name 2 Types of Intrauterine Growth Restriction (IUGR)?
Asymmetrical – more common - Restriction in weight, followed by length - Head continues to grow (head sparing), abdomen stops growing first - Poor growth during Third Trimester - Caused by malnutrition, ↑BP - leads to hypoxia, hypoglycaemia Symmetrical (global growth restriction) - fetus developing slowly throughout entire pregnancy - head circumference is in proportion to body - permanent neurological sequelae - Causes: intrauterine infections (CMV, rubella, toxoplasmosis) llllllchromosomal abnormalities, maternal substance abuse, anaemia Asymmetrical IUGR – thin, dry peeling skin, thin umbilical cord If cause of IUGR is extrinsic (maternal or uteroplacental), fetus has less oxygen and nutrients – fetus have reduced glycogen and lipid supply – causes hypoglycaemia at birth. Low oxygen causes the fetus to make more erythropoietin – leads to polycythaemia
162
Name 5 Causes of Intrauterine Growth Restriction (IUGR)?
``` Maternal: Poor weight gain / poor nutrition Anaemia Substance abuse / maternal smoking Gestational diabetes Celiac disease Hypertension Recent pregnancy Pulmonary / CVS / renal disease ``` ``` Utero-placental: Pre-eclamspia Multiple gestation Uterine malformations Placental insufficiency ``` Fetal: Chromosomal abnormalities Vertically transmitted infections
163
Name 5 causes of Perinatal mortality?
``` Pre-term delivery IUGR (Intrauterine growth restriction) Congenital abnormalities Intrapartum (hypoxia) Placental abruption Unexplained ```
164
What makes up the Combined Test for Screening for Trisomy's (e.g. Downs Syndrome)?
Maternal age Nuchal Translucency measurement PAPPA-A (Pregnancy-associated Pasma Protein A) - Low ↓ β-hCG (β-Human chorionic gonadotrophin) – High ↑
165
When is the Combined Test done? What alternative Test is offered in later gestations?
Combined Test (11 – 14 weeks) Quadruple Test (14 – 20 weeks)
166
What makes up the Quadruple Test for Screening for Downs Syndrome?
AFP (alpha-fetoprotein) – Low ↓ β-hCG (β-Human chorionic gonadotrophin) – High ↑ Unconjugated Oestroldiol – Low ↓ Inhibin A – High ↑
167
Name 4 causes of Low Pregnancy-associated Plasma Protein A (PAPP-A)?
Downs syndrome Placental Abruption IUGR Still-birth
168
Name 3 Screening methods for High-risk Pregnancies?
Maternal History – past obstetric History: assisted conception, Past small for dates baby - Extremes of reproductive age - Smoking / Drug abuse PAPP-A Blood tests – first trimester Maternal Uterine Artery Doppler at 23 weeks
169
Name 5 Methods of Fetal Surveillance in High-risk Pregnancies?
Ultrasound assessment of fetal growth: measuring head circumference, abdominal circumference and femur / humerus length Umbilical artery Doppler Doppler of Fetal Circulation – (Middle cerebral artery / Ductus venosus* Doppler) Ultrasound assessment of Bio-physical Profile (limb movements, tone, breathing movements and liquor volume) Daily CTG analysis Kick Chart – record fetal movements *Ductus venosus – shunts oxygenated blood from the left umbilical vein directly into the Inferior vena cava – allows circulation to bypass the liver.
170
Define Prolonged Pregnancy? Name 3 Risk Factors?
Prolonged Pregnancy = > 42 weeks Nulliparity Previous prolonged Pregnancy Rarer / greater risks in South Asian Women Rarer in African women
171
Name 3 risks associated with Prolonged Pregnancy?
``` Still birth Neonatal illness Encephalopathy Fetal meconium aspiration Fetal distress ```
172
What is a Tocolytic? Name 4 Tocolytics ?
Tocolytic is a drug which inhibits uterine contractions – used to delay premature labour ``` Nifedipine (Ca2+ channel blocker) Ritodrine (β agonist) Atisoban (oxytocin inhibitor) Salbutamol Indometacin (NSAID) Magnesium Sulphate ```
173
Name 3 contraindications to Tocolysis?
Intrauterine infections Rupture of Membranes Fetal distress
174
Name 3 Types of Breech Presentation? Which is the most common?
Extended – most common Flexed Footling – least common - most likely to have cord prolapse
175
Name 4 causes of Abnormal Lie?
Premature Labour Circumstances that allow more room to turn: - Polyhydramnios - high-parity – due to more lax uterus Circumstances that prevent turning: - uterine abnormalities - twin pregnancies Conditions that prevent engagement: - Placenta praevia - pelvic tumours - uterine abnormalities
176
Name 5 Contraindications to External Cephalic Version (ECV)?
``` Fetal Compromise - IUGR - Pre-eclampsia Ruptured membranes Placenta praevia Antepartum haemorrhage Twins Isoimmunisation Previous C-section ``` ``` Relative contraindications include: Obesity Oligohydramnios Nulliparous, Caucasians – lower success rate High uterine tone ```
177
Name 3 Risk Factors for Twin / Multiple Pregnancy?
``` Increasing maternal age Grand-parity Assisted conception – IVF, clomiphene assisted pregnancy Genetic factors Family History of Twins Races - Black and Non-hispanic ```
178
Name 5 Complications of Twin / Multiple Pregnancies?
``` Maternal: Pre-eclampsia Gestational diabetes Anaemia Miscarriage Antepartum / Post partum haemorrhages ``` Fetal: Pre-term delivery Twin-twin transfusion syndrome (only in monochorionic twins) - polyhydramnios Congenital abnormalities (more common in monochorionic twins) Long-term handicap Intra-uterine growth restriction Malpresentation
179
When does Twin-twin Transfusion Syndrome occur? Describe the Process?
16 – 22 weeks In Monochorionic Diamniotic twins (MCDA) Vascular anastomosis between parts of the shared placenta, leading to: ``` Donor twin: Receives less blood anaemia Poor urine output Oligohydramnios IUGR ``` ``` Recipient twin: Receives more blood Polycythaemia Fluid overload / Heart failure Increased urine output Polyhydramnios ```
180
Name 6 Risk Factors for Pre-term Delivery?
``` Previous Preterm delivery Maternal age <20yrs Low socioeconomic class Multiparity Smoking Uterine abnormalities Fibroids Twins – assisted conception Polyhydramnios Pre-eclampsia IUGR ``` Cervical incompetence: previous cervical surgery Cervical cancer ``` Infection: Chorioamnionitis neonatal sepsis endometritis Bacterial vaginosis Group B strep (GBS) Trichomonas Chlamydia ```
181
Name 5 investigations for pre-term delivery?
``` Fetal fibronectin assay Transvaginal Ultrasound Scan to assess cervical length (short cervix is more likely) CTG Vaginal swab White cell count (WCC) CRP ```
182
What is the management of Pre-term delivery?
If <34 weeks, administer IM steroids (betamethasone) – given to stimulate surfactant production, to prevent Respiratory distress syndrome - needs 24 hrs to work Delay delivery using tocolytics (inhibit uterine smooth muscle contractions):- Atisoban – oxytocin inhibitor - Ritodrine – β2-agonist - Nifedipine – CCB - Indometacin (NSAID) Magnesium sulfate – has a fetal neuroprotective affect
183
Name 3 side effects of Ritidrine?
Cardiac affect – maternal tachycardia, increased BP Hyperglycaemia – causes gluconeogenesis (avoid in diabetic patients) Headache
184
Name 3 contraindications to tocolytics?
Intrauterine infections Rupture of membranes Fetal distress
185
What antibiotic can be used for infection prophylaxis in Preterm rupture of membranes (PROM)?
Erythromycin – macrolide antibiotic
186
What condition is pre-term use of Co-amoxiclav associated with?
NEC (necrotising enterocolitis)
187
Name 5 Signs and symptoms of Chorionamnionitis?
``` Maternal pyrexia Offensive vaginal discharge Fetal tachycardia (>160bpm) Maternal leucocytosis Uterine tenderness Abdominal pain ```
188
Name 3 causes of Maternal pyrexia in Labour?
Maternal pyrexia = >37.5°C Chorioamnionitis Epidural analgesia prolonged labour
189
Name 5 Risk Factor for Chorioamnionitis?
``` Multiple vaginal examinations Carriage of Group B Streptococcus Prolonged Rupture of Membranes Prolonged labour Preterm delivery Low socioeconomic status Pre-existing infection of the lower genital tract Nulliparity Young age ```
190
Define Antepartum haemorrhage?
Bleeding from the genital tract after 24 weeks
191
Name 5 causes of Antepartum haemorrhage?
``` Placenta praevia Placental Abruption Uterine rupture Vasa Praevia Genital tract Pathology – e.g. cervical cancer Undetermined origin ```
192
Name 5 Risk factors for Placenta praevia?
``` Previous placenta praevia Extremes of age (<20yrs or >35yrs) Multi-parity Previous caesarean section Previous myomectomy Damaged endometrium by Dilation & Curettage Large placenta (twins) ```
193
Name 5 Risk factors for Placental Abruption?
``` Previous placental abruption Intrauterine growth restriction (IUGR) Pre-eclampsia or pre-existing hypertension Autoimmune disease Maternal smoking Cocaine use Multiparity Multiple pregnancy Rapid reduction in uterine volume (rupture of membranes in a women with polyhydramnios) ```
194
Name 2 Investigations for Fetal Anaemia?
Doppler Ultrasound of the peak velocity of the fetal Middle Cerebral artery (MCA) Fetal Blood sampling from umbilical vein under ultrasound
195
Name 5 indications of Anti-D?
Given to Rh-Negative mothers at 28 weeks and within 72 hrs of any sensitization event: ``` Miscarriage or threatened miscarriage Termination of pregnancy or Evacuation of retained products of conception (ERCP) after miscarriage Invasive tests - amniocentesis, chorionic villus sampling (CVS) External cephalic version Vaginal bleeding < 12 weeks or heavy Intrauterine death Antepartum haemorrhage After Delivery ``` IM (intra-muscular) Anti-D (Rho (D) immune globulin) - used to prevent Rh disease (haemolytic disease of the newborn) – - Works by mopping up any fetal RhD-positive erythrocytes in the maternal blood stream, before the maternal immune system reacts – prevents maternal sensitisation.
196
What test can be done to determine the dose of Anti-D?
Kleihauer-Betke Test: A blood test – measures the amount of fetal haemoglobin in the mother’s blood stream Performed on Rh-Negative mothers
197
How is Acute Fatty Liver of Pregnancy differentiated from HELLP Syndrome?
Acute fatty liver of pregnancy has: - hypoglycaemia - ↑ uric acid
198
Define Labour?
Onset of painful uterine contractions Leading to full dilation (10 cm) and effacement of the cervix Usually 37 – 42 weeks gestation
199
Describe the stages of Labour?
First stage – onset of contractions to full cervical dilation (10 cm) - latent phase – cervix dilates slowly for the first 3 cm - active phase – follows, cervical dilation 1cm/hr in nulliparous and …2cm/hr in multiparous women Second stage – Full cervical dilation to delivery of the fetus Third stage – delivery of the fetus to delivery of the placenta
200
Define Slow Labour? Define Prolonged Labour?
Slow labour – progress slower than 1cm/hr dilation after the latent phase Prolonged labour – >12 hours duration after the latent phase
201
What 3 Mechanical factors which determine the progress of Labour?
Power – degree of force expelling the fetus Passage – dimensions of the pelvis and resistance of the soft tissues Passenger – diameter of fetal head
202
What are normal uterine contraction? Give 2 reasons for poor uterine contractions?
In labour contractions last 45-60 seconds every 2-3 minutes Poor contractions can be due to: Nulliparity Induction of labour
203
What is the most preferable presentation of the fetus?
Occipito-anterior (OA) Anteriorly – posterior fontanelle is Y or Δ shaped Straight (sagittal) suture Posteriorly – anterior fontanelle (bregma) is diamond-shaped ◊
204
What are Braxton-Hicks’ Contractions?
‘false labour’ – prodromal contractions Involuntary Uterine contractions - intermittent and irregular in early pregnancy As labour approaches the frequency and amplitude of contractions increase
205
How is descent of the fetus measured in delivery?
Descent of fetal head it compared with the ischial spines – known as stations Station -2 = 2cm above the ischial spines Station 0 = in line with the ischial spines Station +2 = 2cm below the ischial spines
206
Describe the order of fetal movements during delivery?
``` Engagement in Occipito-transverse (OT) Descent Flexion Internal Rotation 90° to Occipito-anterior (OA) Descent Extension to deliver Restitution - External rotation ```
207
Describe the different degrees of tear?
Tear involving the perineal muscles or an episiotomy First degree tears only involve the fourchette Second degree tears involve the perineal muscles / episiotomy Third degree tears involve the anal sphincter Fourth degree tears involve the anal mucosa
208
Name 3 Risk factors for a third-degree tear?
Third degree tear involves the anal sphincter Nulliparity Forcep delivery Large fetus Midline Episiotomy
209
Name the factors which make up the Bishop Score? What is it used for?
``` Cervical dilation Cervical effacement Cervical position Cervical consistency Fetal Station ``` Used to assess the favourability of the cervix, to predict whether induction of labour is required. Score 0 – 5 = unfavourable cervix – give vaginal prostaglandin Score 6 – 13 = favourable cervix – spontaneous pregnancy likely
210
What chart is used to monitor the progress of Labour? Name 5 features of the Chart?
Partogram Cervical dilation – alert and action lines indicate slow progress Fetal descent of head Maternal vital signs: pulse, temperature, BP, Fetal heart rate liquor colour Oxytocin drops Drugs and IV fluids given
211
Name 5 causes of failure to progress in labour?
Power: Inefficient uterine contractions – common in: - nulliparous - induction of labour ``` Passage: Fetal size Disorder of rotation: - occipitotransverse (OT) - occipitoposterior (OP) Disorder of Flexion - brow presentation ``` Passenger: Cephalo-pelvic disproportion Role of cervix Pelvic variants / deformities
212
Define fetal distress? Name 3 causes?
Fetal distress – hypoxia that might result in fetal damage or death if not reversed or the fetus or delivered urgently pH < 7.2 in the fetal scalp capillaries – indicates hypoxia ``` Placental abruption Hypertonic uterine states Use of oxytocin Prolapse of the umbilical cord Maternal hypotension ```
213
Name 5 causes of an increased Fetal heart rate (>160bpm)?
``` Fetal hypoxia Fetal distress Prematurity Maternal pyrexia Exogenous β-agonist use (e.g. salbutamol) ```
214
Name 3 features of a Reassuring CTG?
Normal Baseline Fetal heart rate (110 – 160bpm) Normal fetal variability (>5bpm) Accelerations present Absence of Decelerations
215
What do Variable Decelerations on CTG suggest?
Cord Compression
216
Name 5 indications for a CTG in labour?
``` Maternal: Previous C-section Pre-eclampsia Diabetes Antepartum haemorrhage Maternal fever ``` ``` Fetal: IUGR Prematurity Oligohydramnios Breech Multiple pregnancy Meconium stained liquor ``` Intrapartum: Oxytocin use Epidural analgesia Induction of Labour
217
Name 5 methods of pain-relief in labour?
Non-medical: - back-rubbing - transcutaneous electrical nerve stimulation (TENS) - acupuncture Entonox (Gas & air) – nitric oxide and oxygen Opiates: (+ antiemetic) - Pethidine - Diamorphine - Remifentanil Spinal analgesia – into the CSF Epidural analgesia – (L3 – L4) into the epidural space Pudendal nerve block
218
Name 3 contra-indications to Epidural Analgesia?
``` Sepsis Hypovolaemia Active neurological disease Anticoagulant therapy or coagulopathy Local infection on back at L3-L4 Raised intracranial pressure Spinal abnormalities – spina bifida occulta ```
219
Name 3 complications of Epidural Analgesia?
Spinal tap – puncture of the dura mater → leakage of CSF → severe headache worse on sitting up Inadvertent Intravenous injection – convulsions or cardiac arrest Total spinal analgesia – inadvertent analgesia in to the CSF + progression up the spinal cord → respiratory paralysis Urinary retention Poor mobility – bed sores Hypotension Higher instrumental delivery rate Local anaesthetic toxicity Maternal fever
220
Name 3 conditions where Epidural Analgesia is more likely to be indicated?
``` Pre-eclampsia Multiple gestation Prolonged pregnancy Obesity Anticipated instrumental delivery ```
221
What is the difference between induction and augmentation of Labour?
``` Augmentation = artificial strengthening the contractions in established labour (amniotomy, oxytocin) Induction = artificial initiation of labour ```
222
Name 3 methods of Induction of Labour?
Prostaglandin E2 pessary inserted into the posterior vaginal fornix Amniotomy – (artificial rupture of membranes with an amnihook) Oxytocin infusion
223
Name 3 indications for Induction of Labour?
``` Prolonged pregnancy Preterm rupture of membranes IUGR Maternal disease (pre-eclampsia, diabetes) In-utero death ```
224
What is Shoulder Dystocia? Name 5 Risk Factors?
Shoulder dystocia – seen in obstructed deliveries, where the anterior shoulder of the infant, fails to pass below the pubic symphysis, after the head. Turtle sign, head bobbing ``` Maternal diabetes (gestational / type 1) Obesity Previous large for gestational age baby Fetal macrosomia (weight > 4500g) Large for gestational age Prolonged labour Post-dates (prolonged pregnancy) Male fetus ```
225
Name 5 Complications of Shoulder dystocia?
Erb’s Palsy (Upper brachial plexus C5-C6) – waiter’s tip position – arm lies straight, limp, hand pronated and fingers flexed. Klumpke’s paralysis (Lower brachial plexus C8-T1) – claw hand, loss of sensation in ulnar part of forearm. Hypoxia Fetal distress / death Maternal post-partum haemorrhage Cerebral palsy Maternal 3rd / 4th degree tears, extended episiotomies Uterine rupture
226
What is the Management of Shoulder dystocia?
ALARMER: Ask for Help – obstetrician, paediatrician, anaesthetist Leg hyperflexion – (MacRobert’s position) Anterior Shoulder disimpaction (suprapubic pressue) Rubin Manoeuvre – pressure on posterior shoulder (wood’s screw manoeuvre) Manual delivery of posterior arm Episiotomy Roll over onto all fours Zavenelli manoeuvre – pushing delivered head back into the birth canal → caesarean section Intentional clavicular fracture
227
Name 5 risk factors for Cord Prolapse?
Cord prolapse – descent of the umbilical cord through the cervix, past the presenting part, when the membranes have ruptured: → cord compression or spasm of the umbilical cord → fetal hypoxia ``` Artificial rupture of membranes Preterm delivery Low-birth weight Breech presentation / abnormal lie / unengaged presenting part Multiple pregnancy Polyhydramnios ``` Management – put patient in trendelenberg position (knees to chest) / or sitting on all fours, and pushing the presenting part upwards, catheter with fluid. If the cord is outside, it should be kept warm and moist – urgent c-section
228
Name 5 causes of Maternal Collapse?
4T’s & 4H’s Thromboembolism - amniotic fluid embolism Toxicity - Magnesium toxicity – give calcium gluconate antidote - Anaesthesia toxicity – give intralipid Tension pneumothorax Tamponade (cardiac) Hypovolaemia Hypoxia Hypo/hyperkalaemia – other electrolyte abnormalities Hypothermia Pre-eclampsia / Eclampsia Intracranial haemorrhage sepsis
229
Name 3 Obstetric conditions associated with Disseminated Intravascular Coagulation (DIC)?
Amniotic fluid embolism Antepartum / postpartum haemorrhages HELLP syndrome Placental abruption
230
Name 3 Risk Factors for Uterine Rupture?
``` Scar dehiscence from a Previous caesarean section (more common if classic scar) Increased use of oxytocin Previous myomectomy Obstructed labour Multiparity Perforation during operative procedures ```
231
Name 5 causes of maternal pyrexia in the puerperium?
``` Endometritis – due to retained products of conception UTI Wound infection Perineal infection Breast infection (mastitis) Chest infection Thromboembolism ```
232
Define a primary postpartum haemorrhage?
loss of >500ml blood in the first 24 hours after delivery (>1000ml if caesarean section) Secondary post partum haemorrhage is bleeding after 24 hours – 6 weeks after delivery
233
Name 5 causes of postpartum haemorrhage?
4 T’s: Tone – atonic uterus Tissue – retained placenta, infection Trauma – high vaginal tear, cervical tear, perineal tear, episiotomy Thrombin – coagulopathy, anticoagulant therapy, DIC Uterine inversion Uterine rupture
234
Name 5 risk factors for Postpartum haemorrhage?
``` Antepartum haemorrhage Previous history of PPH Previous caesarean delivery Grand-multiparity Over-distention of the uterus: (cause atonic uterus)- Polyhydramnios- Multiple pregnancy - macrosomic fetus Fibroids and uterine malformations Coagulation defect or anticoagulant therapy Instrumental or caesarean delivery Retained placenta Prolonged pregnancy Induction of labour ```
235
Name Schneider's First Rank Symptoms of Schizophrenia?
Third Person Auditory Hallucinations (running commentary, thought sonarization) Thought alienation (thought insertion, thought withdrawal, thought broadcasting) Delusional Perception Passivity Phenomena -Made feelings / impulses / actions Thought sonarization – hearing own thoughts out loud (either at the same time as thought – gedankenlautwerden, or after a thought – echo de le pensee) Diagnostic Criteria – >1 very clear firth rank symptom, or >2 other symptoms for longer than >1 month,
236
Name 5 negative Symptoms of Schizophrenia?
``` Apathy Poverty of speech Blunting / incongruent affect Slowness Lack of drive Social withdrawal ```
237
Name 3 types of Schizophrenia?
Paranoid Schizophrenia – most common – persecutory delusions, Hebephrenic Schizophrenia – affect change, fleeting hallucinations - starts at young age (15-25 years), poor prognosis Catatonic Schizophrenia – stupor, excitement, posturing, negativism, rigidity, waxy flexibility. Simple Schizophrenia – gradual onset, negative symptoms develop before positive symptoms Residual / chronic schizophrenia – follows other types of schizophrenia – negative symptoms
238
What does a Delusion mean?
A fixed belief, held with conviction Usually false Cannot be altered with evidence / proof Is inappropriate according to the social / cultural norm
239
Name 3 Side effects of Lithium?
Hypothyroidism – check TFT’s Lithium-induced Nephrogenic Diabetes Insipidus (Excreted by kidneys – check renal function) Arrhythmias – check ECG Lithium Toxicity – narrow therapeutic range Teratogenic – cardiac defects (Ebstein’s anomaly) ``` Dry mouth, metallic taste Nausea, vomiting Fatigue Weight gain Diarrhoea ```
240
Name 3 signs of Lithium Toxicity?
``` Tinnitus Blurred vision Dysarthria Poor concentration Sleepiness Diarrhoea & vomiting Coarse Tremor Muscle weakness / twitching seizures ``` Do not use diuretics with lithium – reduces excretion of lithium – lithium toxicity Treatment – fluid therapy, haemodialysis, treat seizures with benzodiazipines
241
Name 3 drugs that interact with Lithium?
Diuretics ACE inhibitors Some NSAIDS Other drugs which prolong the QT interval, e.g. amiodarone, amisulpride (antipsychotic), citalopram Amitriptyline Drugs which cause hypokalaemia, e.g. betamethasone – increase the risk of torsade de pointes
242
What causes Wernicke’s Encephalopathy? What is the triad of symptoms?
``` Vitamin B1 (thiamine) deficiency Common in alcoholics ``` Confusion Ophthalmoplegia Ataxia Nystagmus Peripheral neuropathy Periaqueductal punctuate haemorrhages. Causes of Wernicke’s encephalopathy – chronic alcoholism, eating disorders, malnutrition, prolonged vomiting (with chemotherapy, hyperemesis gravidum), GI malignancy
243
What is the treatment of Wernicke’s Encephalopathy?
Thiamine (vitamin B1) replacement (Pabrinex) | Replace thiamine before correcting glucose
244
What complication can Wernicke’s Encephalopathy lead to? Describe 3 symptoms?
``` Irreversible Korsakoff’s Syndrome: Confusion Antegrade / retrograde amnesia Confabulation Lack of insight / apathy ↓ability to acquire new memories ``` Hypothalamic damage and cerebral atrophy due to thiamine deficiency in alcoholics
245
Name 5 features of Alcohol Dependence?
≥ 3 of the following features must be present together in the previous year: Strong desire / compulsion to drink Difficulties controlling drinking (onset, termination) Physiological withdrawal state – drinking alcohol to avoid withdrawal symptoms Tolerance – the CNS effects of drugs diminish with repeated use ∴ increasing doses of alcohol is required to achieved the same effect Neglect – priority of drinking over other activities Persisting with drinking despite evidence of harm Narrowing of drinking repertoire – drinking in the same way / same time Reinstatement after abstinence
246
Define Tolerance?
Occurs when the desired CNS effects of a psychoactive substance, diminish with repeated use Therefore increasing doses are administered to achieve the same effect
247
Give 3 features of Alcohol withdrawal?
Within 12 hours – tremor, insomnia, nausea, increased sweating, anorexia, anxiety, tachycardia, restlessness 10 – 60 hours – withdrawal fits Alcoholic hallucinosis 48 - 72 hours – Delirium Tremens (lasts 5 days): - clouding of consciousness / confusion - vivid hallucinations and illusions (Lilliputian hallucinations, tactile …hallucinations - formication) - marked tremor
248
Name 5 Blood test to investigate patients with alcohol problem drinking?
Blood Alcohol concentration (can be tested in expired air using Alcometer) LFT’s: - GGT (Gamma-glutamyl-transpeptidase) ↑ - AST (Aspartate transferase) ↑↑ (AST:ALT ratio = 2:1) FBC – macrocytic anaemia - ↑ MCV – B12 and Folate deficiency Glucose ↓ U&E’s:- uric acid ↑ Carbohydrate-deficient transferrin (CDT) – detects heavy alcohol consumption Phosphatidylethanol – detects regular alcohol consumption
249
How is acute alcohol withdrawal treated?
``` Reducing regime of Benzodiazepines (e.g. chlordiazepoxide, chlormethiazole) – gradually reducing dose in 5-6 days Withdrawal fits are treated with rectal diazepam Give thiamine (Pabrinex) BEFORE treating hypoglycaemia to prevent wernickes encephalopathy ```
250
What is the treatment of Long-term prevention of problem drinking?
Disulfiram (Antabuse) – blocks acetaldehyde dehydrogenase Acamprosate – reduces conditioned aspects of drinking and prevents craving-related relapses – enhances GABA transmission Naltrexone – opioid antagonist – reduces reinforcing actions of alcohol (reduces the pleasure from alcohol Motivational interviewing Supportive psychotherapy / group behaviour therapy Self-help – Alcoholics anonymous
251
How does Disulfiram (Antabuse) work?
Inhibits the enzyme acetaldehyde dehydrogenase Normally alcohol is converted to acetaldehyde by alcohol dehydrogenase (produces the hangover effects) Acetaldehyde is then broken down by acetaldehyde dehydrogenase into an acetic acid derivative Disulfiram increases the concentration of acetaldehyde in the blood – if alcohol is consumed, causes a reaction: - hypotension - facial flushing - throbbing headache - tachycardia and palpitations - nausea & vomiting - arrhythmias Disulfiram (antabuse) can be used on a regular basis as a prophylactic treatment of alcohol dependence syndrome. The ingestion of even small amounts of alcohol whilst on this drug leads to unpleasant systemic reactions, including facial flushing, headache, palpitations, tachycardia, nausea and vomiting. Disulfiram acts by blocking the oxidation of alcohol at the acetaldehyde stage. The subsequent accumulation of acetaldehyde in the blood gives rise to the unpleasant symptoms referred to as the disulfiram-alcohol interaction.
252
Name the 4 features of Narcolepsy?
A neurological condition due to loss of inhibition of REM sleep: Cataplexy – sudden loss of muscle tone, when intense emotion occurs, leading to collapse Hypnogogic (going asleep) / hypnopompic (waking-up) Hallucinations Irresistible Attacks of sleep at inappropriate times Sleep Paralysis Catalepsy – rigidity and fixity of posture – related to Parkinson’s disease, epilepsy, schizophrenia, antipsychotic medication ``` Narcolepsy: symptoms, epidemiology CHAP: Cataplexy Hallucinations Attacks of sleep Paralysis on waking· ``` Usual presentation is a young male, hence "chap".
253
What Scoring Tool is used to assess Suicide Risk?
``` SAD PERSONS Sex – male Age (<19 or >45 years) Depression Previous Attempt Excess Alcohol or Substance Misuse Rational thinking loss Separated / Divorced / Widowed Organised plan No Social Support Sickness / Stated future intent ```
254
Name 2 protective factors against Suicide?
Having children Being religious Access to clinical care for mental, physical and substance misuse disorders Family / community support
255
Name 5 features of fetal alcohol Syndrome?
``` Microcephaly Ocular hypertelorism Low IQ, mild-moderate mental retardation Strabismus Small nose Long, thin upper lip Indistinct philtrum Pectus excavatum Cardiac murmurs (ASD) Poor Growth ```
256
Name 4 groups of illicit drugs? Give Examples?
``` Stimulants: Amphetamines (speed) Cocaine MDMA – Ecstasy Coffee ``` Sedatives: Alcohol Barbiturates Benzodiazepines ``` Opiates: Morphine Diamorphine (heroin) Methadone Tramadol Codeine ``` Other: Cannabis Hallucinogens (LSD)
257
Name 5 features of Opioid Use ?
Opioids – heroin (diamorphine), morphine, methadone, codeine, tramadol ``` Pin-point pupils (miosis) Constipation Euphoria Tremor Nausea & vomiting Respiratory depression Hypotension Anorexia Erectile dysfunction Venepunture marks (IVDU) ```
258
Name 5 features of Opioid Withdrawal?
``` Diarrhoea Dilated pupils (mydriasis) Lacrimation Sweating Insomnia Tachycardia Abdominal cramp-like pains Nausea & vomiting ``` Managed using methadone and buprenorphine (partial agonist)
259
Name 3 features of Opioid Overdose? What is the Treatment?
``` Opiate overdose: Reduced level of consciousness Pin-point pupils Respiratory depression Seizures Muscle spasms ``` Treatment: Oxygen, IV or IM Naloxone – (has a short half-life – requires continuous infusion / multiple doses)
260
What is the name of the psychoactive substances found in Cannabinoids (Cannabis)?
Δ9-tetrahydrocannabinol
261
Name 5 features of Cannabis use?
Conjunctival injection Dry cough Increased appetite Fatigue ``` Euphoria Relaxation Altered perception of time Paranoia Persecutory delusions Social withdrawal Depersonalisation / derealisation ```
262
Name 5 features of Cocaine use?
``` tachycardia Dilated pupils (mydriasis) hypertension Sweating Nausea & vomiting ↑risk of cardiovascular disease ``` ``` Euphoria Visual or tactile hallucinations (insects crawling under skin – formication) Increased Sexual interest Grandiose delusions Ideas of reference Agitation Impaired judgement ```
263
Name 5 features of Cocaine Withdrawal?
``` Dysphoric mood – rebound crash Cravings Irritability Fatigue Insomnia / hypersomnia Paranoia Suicidal thoughts delirium ```
264
Name 5 symptoms of Sedative use?
Benzodiazepines barbiturates ``` Slurred speech Incoordination Unsteady gait Impaired attention / memory Disinhibition Aggression Respiratory depression hypotension ```
265
Name 5 symptoms of Sedative withdrawal?
``` Nausea & vomiting Autonomic hyperactivity - tachycardia - sweating Anxiety Irritability Hypotension Insomnia Delirium seizures Coarse Tremor Loss of appetite / weight loss pyrexia ```
266
What is the treatment of Benzodiazepine Overdose?
CNS depression Respiratory depression→ coma Flumazenil
267
Give 2 medical uses for Amphetamines?
Treatment of ADHD and Narcolepsy
268
Name 3 features of Amphetamine Use ?
``` Euphoria Hypervigilance dilated pupils Insomnia Agitation Hallucinations / illusions Hypertension Tachycardia cardiac arrhythmia impaired judgment Perspiration Confusion ``` The use of high doses of amphetamines may cause a paranoid psychosis with persecutory delusions, auditory and visual hallucinations, and sometimes hostile and dangerously aggressive behaviour. (indistinguishable from paranoid schizophrenia) The condition usually subsides in about a week, but occasionally it persists for months.
269
What are the features of amphetamine withdrawal?
``` dysphoric mood irritability depression fatigue insomnia agitation ```
270
Name a complication of Ecstasy (MDMA) use?
Hyperthermia → death Ecstasy (MDMA) produces a positive mood state with feelings of euphoria, sociability and intimacy. Rarely, it can cause severe adversereactions and deaths due to hyperthermia. The hyperthermia probably results from the effect of ecstasy in increasing brain 5-HT release, together with the social setting in which the drug is customarily taken (crowded parties with prolonged and strenuous dancing).
271
What type of drug is LSD? Name 3 features
Hallucinogen Synaesthesia – translation from one sensory modality to another, e.g. sees a sound Merging of objects Slowing of the passage of time Lysergic acid diethylamide (LSD) is a synthetic hallucinogen. Its psychological effects develop during a period of two hours after consumption and generally last from 8 to 14 hours. The most remarkable experiences are distortions or intensifications of sensory perception. ‘Synaesthesia’ refers to the experience of translation from one sensory modality to another so that one may, for example see a sound or smell a colour. Other effects may include the merging of objects with one another and slowing of the passage of time
272
Name 3 indications for Electroconvulsive Therapy (ECT)?
Severe depression, particularly life-threatening behaviour (e.g. refusing to eat) Puerperal depressive illness Catatonic schizophrenia Mania
273
Give 5 features of Poor Prognosis in Bipolar Affective Disorder?
``` Early onset of illness Poor compliance Severe mania Persistent depressive symptoms Co-morbid personality disorder Substance misuse Family history of non-response Rapid cycling (4 or more episodes a year) ```
274
Name 2 forms of Psychotherapy used in Phobic disorders?
Graded Exposure Techniques - Systematic desensitisation involves gradual exposure to a phobic stimulus over a number of sessions. Flooding – requires patient to confront the sources of their anxiety and remain there until the anxiety dissipates.
275
Name a therapy used to treat panic attacks?
Relaxation therapy – involves progressive muscular relaxation and breathing exercises.
276
Define Adjustment Disorder?
Prolonged severe abnormal response to stress Beginning within 1 month of a stressful life event Lasting no longer than 6 months Interferes with social functioning
277
Define Post Traumatic Stress Disorder (PTSD)?
An intense delayed, prolonged reaction to a traumatic / stressful event Symptoms (begin within 6 months of traumatic event): Intrusions – flashbacks, nightmares, vivid memories, frequent thoughts of the incident Avoidance – avoids reminders, inability to recall some of the events, poor interest in everyday life, emotional detachment, avoids discussing the incident Hyperarousal – persistent anxiety, hypervigilance, exaggerated startle response, insomnia, irritability, poor concentration
278
Name 2 blood tests which are raised in Neuroleptic malignant syndrome?
``` Creatinine phosphokinase (CPK) Increased white cell count (WCC) ```
279
Name 3 Causes of Blackouts?
Syncope Epilepsy Non-epileptic attacks
280
Define Syncope?
an abrupt and transient loss of consciousness associated with loss of postural muscle which follows a sudden fall in cerebral perfusion
281
Name 3 types of Syncope?
Neurogenic Syncope: Vasovagal syncope Situational (reflex) syncope - coughing, micturition Carotid sinus hypersensitivity Cardiac syncope: Arrhythmias Valvular hear disease Aortic stenosis Orthostatic syncope
282
Define Epilepsy?
Tendency to have recurrent seizures Seizure – clinical manifestation of disordered electrical activity in the brain (paroxysmal discharge of cerebral neurones) spontaneous, intermittent abnormal electrical discharge in the brain
283
Define Status Epilepticus?
A series of Seizures lasting > 30mins | Without regaining consciousness between attacks
284
Name 5 triggers of Seizures?
``` SLIDE: Sleep Deprivation Lights (flashing) Infection Drugs/alcohol and Withdrawal Exhaustion Menstruation ```
285
What are the 3 types of Partial seizures?
Simple partial seizures (awareness is unimpaired) Complex partial seizures (awareness is impaired) Partial seizures with secondary generalisation
286
Name 5 types of Primary Generalised seizures?
``` Absence Seizures (petit-mal) Tonic-Clonic seizure (grand-mal) Myoclonic seizures Atonic (akinetic) seizures – No LOC Infantile Spasms (West Syndrome) ```
287
What condition is Infantile Spasms associated with?
Tuberous Sclerosis
288
What is the characteristic EEG finding in Infantile Spasms?
hypsarrhythmia
289
What is the characteristic EEG finding in Absence Seizures?
3 Hz Spike and Wave Discharges
290
What is Lennox Gastaut Syndrome?
Childhood onset epilepsy characterised by: Frequent seizures of different types Abnormal EEG pattern of <2.5 Hz slow spike wave activity Moderate to severe intellectual impairment
291
Name 3 typical features of Psychogenic Non-epileptic Attacks?
Seizures lasting longer than 2 minutes (tonic-clonic seizures usually last up to 90 secs) Eyes tightly closed – tend to resist having their eyes forced open Mouth tightly closed Hip thrusting Side-to-side head movements Uncommon to have automatisms
292
What type of seizures is Carbamazepine used in? Name 3 Side effects?
Partial seizure (with or without secondary generalisation) ``` Leucopenia Diplopia Blurred vision Drowsiness Impaired balance Mild generalised erythematous rash SIADH (rare) ```
293
Side effects of Lamotrigine?
``` Steven-Johnsons syndrome (epidermis separates from the dermis) → Toxic Epidermal necrolysis (>30% body surface area is involved) Maculopapular rash Hypersensitivity (fever, ↑LFT’s, DIC) Diplopia, blurred vision photosensitivity Tremor Aplastic Anaemia ```
294
Side effects of Levetiracetam?
Keppra – used in >16yrs ``` Psychiatric side effects, depression, agitation Blood dyscrasias Diplopia D&V drowsiness ```
295
Side effects of Phenytoin?
``` Toxicity (nystagmus, ataxia, tremor, dysarthria, diplopia) Gum hypertrophy Blood dyscrasias Polyneuropathy Acne ```
296
Side effects of Sodium Valproate?
``` Vomiting & Nausea (advise to take with food) Appetite (weight gain) Liver failure Pancreatitis Reversible hair loss (grows back curly) Oedema Ataxia Teratogenic, thrombocytopenia, tremor Encephalopathy (due to hyperammonaemia) ```
297
What is Vigabatrin used to treat? Name 1 side effect?
Vigabatrin used to treat infantile spasms Visual field defects
298
What advice would you give to a Pregnant women with Epilepsy?
Take folic acid supplements (5mg/day) | Avoid Valproate – use Lamotrigine
299
3 Causes of Acute onset Headache?
``` Meningitis Encephalitis Subarachnoid Haemorrhage Head injury Venous sinus thrombosis Low pressure headache Acute Glaucoma Sinusitis ```
300
Name 5 features in the History suggestive of a Space-occupying lesion?
Headache, worse on lying down, bending forward, coughing Headache causing night-time wakening Morning vomiting Associated confusion, ↓GCS, personality change Seizures Visual field defects Cranial nerve palsies (6th nerve – abducens) – diplopia, new-onset squint Abnormal gait Torticollis Growth failure Papilledema (late feature)
301
Why must you do imaging before a Lumbar Puncture?
Rule out raised ICP - Reduce the risk of coning (cerebellar tonsils herniate through the foramen magnum)
302
What is the difference between rigidity and spasticity?
Spasticity - ↑tone – velocity dependent, non-uniform – faster you move the muscle, the more resistance – until if gives way in a clasp-knife manner. Rigidity - ↑tone – not velocity dependent, constant through passive movement
303
Name 4 types of Motor neurone disease?
Amyotrophic Lateral Sclerosis (ALS) - UMN + LMN Progressive Bulbar palsy - LMN Progressive muscular atrophy - LMN Primary lateral Sclerosis - UMN Progressive muscular atrophy – weakness of distal limb muscles first (anterior horn cell lesions Pseudobulbar palsy – UMN lesion affecting tongue, muscles of swallowing / talking
304
What is the treatment of Motor Neurone disease (MND)?
Riluzole (antiglutamatergic drug) – increases life expectancy by ≈ 3 months Drooling – propantheline
305
Define Stroke?
Sudden-onset focal neurological deficit Usually vascular in origin Lasting > 24 hours TIA – focal deficit that resolves within 24 hours
306
What are the 2 main types of Stroke?
Ischaemic stroke Haemorrhagic stroke Causes: Small vessel occlusion, cerebral microangiopathy Cardiac emboli - due to Atrial fibrillation, Endocarditis, MI Atherothromboembolism (from carotids) CNS bleeds (trauma, aneurysm rupture, anticoagulation)
307
Name 3 causes of stroke in younger patients?
``` Sudden BP drop by >40mmHg, due to ‘Watershed’ area Carotid artery dissection Subarachnoid haemorrhage antiphospholipid syndrome thrombophilia Fabry’s disease CADASIL, CARASIL ```
308
What is the treatment of Stroke?
ABCDE If within <4.5 hours after onset of symptoms: Alteplase (tissue plasminogen activator - tPA) High-dose Aspirin (300mg)
309
Name 5 contraindications for Thrombolysis?
``` >4.5 hours after onset of symptoms Major infarct or haemorrhage on CT Recent birth - pregnancy Recent surgery Recent trauma Past CNS bleed Arteriovenous malformation (AVM) Aneurysms Seizure on onset Mild non-disabling deficit Liver disease, varices or portal hypertension ```
310
Name 3 common sites of Berry aneurysms?
Junction between the posterior communicating artery and the internal carotid artery Junction between the anterior communicating artery and the anterior cerebral artery Bifurcation of the middle cerebral artery
311
What is the most sensitive investigation for confirming the location of a stroke?
MRI at day 1 with diffusion weighted imaging
312
Name the triad of symptoms in Normal Pressure Hydrocephalus?
Gait apraxia Urinary incontinence Dementia
313
What MRI finding is consistent with Early Alzheimer’s Disease?
Hippocampal atrophy Generalised cerebral atrophy Enlarged ventricles
314
What is the Triad of Lewy Body Dementia?
Visual hallucinations Fluctuating cognitive impairment (lucid periods) Parkinsonian features Also get: sleep disturbance, transient loss of consciousness, recurrent falls Parkinsonian features – tremor, rigidity, bradykinesia, postural instability.
315
What class of drugs cannot be given in Lewy Body Dementia?
Antipsychotics – precipitates severe parkinsonism
316
Describe the typical progression of Vascular Dementia?
Step-wise deterioration – due to accumulation of infarcts
317
What is the criteria for Multiple sclerosis?
McDonald’s criteria Diagnosis of MS requires the presence of multiple CNS lesions which cause symptoms that: Last >24 hours Are disseminated in space (clinically or on MRI) Are disseminated in time (>1month apart)
318
Name 5 features of the Comprehensive Geriatric Assessment for Discharge Planning?
Medical Assessment – Problem list (diagnosis and treatment), co-morbid conditions & disease severity, Medication review- doctor / consultant Functional Assessment – ADL, gait, balance- occupational therapist, physiotherapist Psychological Assessment – cognition, mood- nurse, psychiatrist Social assessment – care resources, finances- social worker Environmental assessment – home saftey
319
Name 5 causes of Fever in a child?
``` Meningococcal sepsis Bacterial meningitis Herpes Simplex encephalitis Pneumonia Urinary tract infection Septic arthritis Kawasaki disease ```
320
What is Safety netting? Name 3 methods?
Used in patients who are a low-risk, and do not need to be admitted to hospital, but no diagnosis has been reached. Provide parent or carer with verbal or written information on warning signs Arrange follow-up at specific time / place Liaise with healthcare professionals, (out-of-hours providers) to ensure direct access for the child if further assessment is required
321
Name 5 risk factors for TB?
``` HIV malnutrition contact with TB Homelessness Overcrowding damp housing IVDU Diabetes Immunosuppression - extremes of age - malignancy - steroids Renal disease Smoking Alcohol silicosis ```
322
Name 4 signs of TB on a Chest X-ray?
Consolidation Cavitation Calcification Fibrosis – upper zone
323
Name 5 causes of Erectile Impotence?
Excessive alcohol Beta blockers, thiazide diuretics anxiety