MSRA clinical bits Flashcards
Neonatal blood spot screening
-congenital hypothyroidism
-cystic fibrosis
-sickle cell disease
-phenylketonuria
-medium chain acyl-CoA dehydrogenase deficiency
-Maple syrup urine disease
-isovaleric acidaemia
-glutair aciduria type 1
-homocystinuria (pyridoxine unresponsive)
4 months immunisations:
-‘6-1 vaccine’ (diptheria, tetanus, whooping cough, polio, Hib and hepatitis B)
-PCV
-Men B
Speech and hearing milestones - 3 months
-Quietens to parents voice
-Turns toward sound
-Squeals
Speech and hearing milestones - 6 months
-Double syllables ‘adah’ ‘eleh’
Speech and hearing milestones - 9 months
-Says ‘mama’ and ‘dada’
-Understands ‘no’
Speech and hearing milestones - 12 months
-Knows and responds to own name
Speech and hearing milestones - 12-15 months
-Knows about 2-6 words (Refer at 18 months)
-Understands simple commands - ‘give it to mummy’
Speech and hearing milestones - 2 years
-Combine two words
-Points to parts of the body
Speech and hearing milestones - 2 1/2 years
-Vocabulary of 200 words
Speech and hearing milestones - 3 years
- Talks in short sentences
-Asks what and who questions
-Identifies colours
-Counts to 10
Speech and hearing milestones - 4 years
-Asks ‘why’, ‘when’ and ‘how’ questions
Gross motor milestones - 3 months
-No head lag on pulled to sit
-Good head control on abdomen
-Lumbar curve
Gross motor milestones - 6 months
-Arms extended in abdomen
-Grasps feet on back
-Pulls self to sitting
-Back straight sitting
-Rolls front to back
Gross milestones - 7-8 months
Sits without support (refer at 12 months)
Gross motor milestones - 9 months
-Pulls to standing
-Crawls
Gross motor milestones - 12 months
-Cruises
-Walks with one hand held
Gross motor milestones - 13-15 months
-Walks unsupported (refer at 18 months)
Gross motor milestones - 18 months
-Squats
Gross motor milestones - 2 years
- Runs
-Up and down stairs with rail
Gross motor milestones - 3 years
-Tricycle using pedals
-Stairs without rail
Gross motor milestones - 4 years
Hops on one leg
Inheritence - Homocystinuria
Autosomal Recessive
Patau syndrome
Trisomy 13
-Microcephalic, small eyes
-Cleft lip/palate
-Polydactyly
-Scalp lesions
Edward’s syndrome
Trisomy 18
-Micrognathia
-Low-set ears
-Rocker bottom geet
-Overlapping fingers
Fine motor and vision - 3 months
-Reaches for object + holds briefly if given
-Sees faces + fixes through 180 degrees
Fine motor and vision - 6 months
-Palmar grasp + passes hand to hand
-Looks every direction
Fine motor and vision - 9 months
-Points with finger
-Early pincer
Fine motor and vision - 12 months
-Good pincer grip
-Bangs toys together
Bricks milestones
15 months - Tower of 2
18 months - Tower of 3
2 years - Tower of 6
3 years - Tower of 9
Drawing milestones
18 months - Circular scribble
2 years - Copies vertical line
3 years - Copies circle
4 years - Copies cross
5 years - Copies square and triangle
Book milestones
15 months - Looks at book, pats page
18 months - Turns pages, several at time
2 years - Turns pages, one at time
Suspected meningococcal septicaemia in community - <1 year old
IM benzylpenicillin 300mg
Suspected meningococcal septicaemia in community - 1-10 years old
IM benzylpenicillin 600mg
Suspected meningococcal septicaemia in community - >10 year old
IM benzylpenicillin 1200mg
Fragile X
-Learning difficulties
-Macrocephaly
-Long face
-Large ears
-Macro-orchidism
Noonan syndrome
-Webbed neck
-Pectus excavatum
-Short stature
-Pulmonary stenosis
Pierre-Robin Syndrome
-Micrognathia
-Posterior displacement of the tongue (may result in upper airway obstruction)
-Cleft palate
Prader-Willi syndrome
-Hypotonia
-Hypogonadism
-Obesity
William’s syndrome
-Short stature
-Learning difficulties
-Friendly, extrovert personality
-Transient neonatal hypercalcaemia
-Supravalvular aortic stenosis
Cri du chat synrome
(chromosome 5p deletion syndrome)
-Characteristic cry
-Feeding difficulty + poor weight gain
-Learning difficulties
-Microcephaly and micrognathism
-Hypertelorism
Paediatric normal heart rate
< 1 110 - 160
1-2 100 - 150
2-5 90 - 140
5-12 80 - 120
>12 60 - 100
Paediatric normal respiratory rate
<1 30 - 40
1-2 25 - 35
2-5 25 - 30
5-12 20 - 25
>12 15 - 20
Down’s syndrome risk - maternal rage 20
1 in 1,500
Down’s syndrome risk - maternal rage 30
1 in 800
Down’s syndrome risk - maternal rage 35
1 in 270
Down’s syndrome risk - maternal rage 40
1 in 100
Down’s syndrome risk - maternal rage 45
1 in 50 or greater
Hearing testing: newborn/infant
Otoacoustic emission test for all newborns (Newborn Hearing Screening Programme)
Auditory Brainstem Response test - if otoacoustic emission test abnormal
Hearing testing 6-9 months
Distraction test
Hearing testing 18m - 2.5y
Recognition of familiar objects
Hearing testing >2.5 years
Performance testing
Speech discrimination tests (similar sounding words)
Hearing testing >3 years
Pure tone audiometry - at school entry
Trinucleotide repeat disorders
-Fragile X
-Huntington’s
-myotonic dystrophy
-Friedreich’s ataxia
-spinocerebellar ataxia
-spinobulbar muscular atrophy
-dentatorubral pallidoluysian atrophy
Opthalmia neonatorum: typical organisms
Chlamydia trachomatis - days 1-5
Neisseria gonorrhoea - day 3-2 weeks
Measles
-Prodrome: irritable, conjunctivitis, fever
-Koplik spots
-Rash behind ears > whole body.
-Discrete maculopapular > confluent blotchy
Mumps
-Fever, malaise, myalgia
-Parotitis: unilateral to bilateral
Rubella
-Maculopapular rash starts on face > whole body > fades day 3-5
-Suboccipital and postauricular lymphadenopathy
Erythema infectiosum
“Fifth Disease/Slapped-Cheel”
Parvovirus B19
Lethargy, fever, headache
Slapped-cheek rash, spread to proximal arms and extensors
Scarlet fever
Toxins from Group A haemolytic strep
Fever, malaise, tonsillitis, strawberry tongue
Fine punctate rash with circumoral pallor
Hand, foot and mouth
Coxsackie A16
Sore throat, fever, vesicles in mouth/palms/soles
Chickenpox
Fever initially
Itchy rash: head/trunk and spreads.
Macular > papular > vesicular.
Colour - Green
Normal colour
Colour - Amber
Pallor reported by parent/carer
Colour - Red
Pale/mottled/ashen/blue
Activity - Green
-Responds normally to social cues
-Conent/smiles
-Stays awake/awakens quickly
-Stron normal cry/not crying
Albinism
Autosomal Recessive
Ataxic telangiectasia
Autosomal Recessive
Congenital adrenal hyperplasia
Autosomal Recessive
Cystic fibrosis
Autosomal Recessive
Cytsinuria
Autosomal Recessive
Familial Mediterranean Fever
Autosomal Recessive
Fanconi anaemia
Autosomal Recessive
Friedreich’s ataxia
Autosomal Recessive
Glycogen storage disease
Autosomal Recessive
Haemochromatosis
Autosomal Recessive
Homocystinuria
Autosomal Recessive
Lipid storage disease: Tay’Sach’s, Gaucher, Niemann-Pick
Autosomal Recessive
Mucopolysaccharidoses: Hurler’s
Autosomal Recessive
PKU
Autosomal Recessive
Sickle cell anaemia
Autosomal Recessive
Thalassaemias
Autosomal Recessive
Wilson’s disease
Autosomal Recessive
Achondroplasia
Autosomal Dominant
Acute intermittent porphyria
Autosomal Dominant
Adult polycystic disease
Autosomal Dominant
Antithrombin III deficiency
Autosomal Dominant
Ehlers-Danlos syndrome
Autosomal Dominant
Familial adenomatous polyposis
Autosomal Dominant
Hereditary haemorrhagic telangiectasia
Autosomal Dominant
Hereditary spherocytosis
Autosomal Dominant
Hereditary non-polyposis colorectal carcinoma
Autosomal Dominant
Huntington’s
Autosomal Dominant
Hyperlipidaemia type II
Autosomal Dominant
Hypokalaemic periodic paralysis
Autosomal Dominant
Malignant hyperthermia
Autosomal Dominant
Marfan’s
Autosomal Dominant
Myotonic dystrophy
Autosomal Dominant
Neurofibromatosis
Autosomal Dominant
Noonan syndrome
Autosomal Dominant
Osteogenesis imperfecta
Autosomal Dominant
Peutz-Jegher’s
Autosomal Dominant
Retinoblastoma
Autosomal Dominant
Romano-Ward syndrome
Autosomal Dominant
Tuberous sclerosis
Autosomal Dominant
Von Hippel-Lindau
Autosomal Dominant
Von Willebrand’s disease
Autosomal Dominant*
Gilbert’s syndrome
Autosomal Recessive*
Activity - Amber
-Not responding normally to social cues
-No smile
-Wakes only with prolonged stimulation
-Decreased activity
Activity - Red
-No response to social cues
-Appears ill to a healthcare professional
-Does not wake or if roused does not stay awake
-Weak, high-pitched or continuous cry
Respiratory - Amber
-Nasal flaring
-Tachypneoa
(RR >50 aged 6-12m)
(RR >40 aged >12m)
-Sats =<95% on air
-Crackles in chest
Respiratory - Red
-Grunting
-RR>60
-Moderate/severe recessions
Treatment of epidiymo-orchitis, unknown organism
Ceftriaxone 500mg IM + oral Doxycycline 100mcg BD 10-14 days
Breast cancer screening programme
Women aged 47-73 are offered a mammogram every 3 years.
Aneurysm screening
All men aged 65 - screen with single abdominal ultrasound
Breast cancer screening at younger age due to ONE relative.
-one first-degree female relative diagnosed with breast cancer younger than 40 years
-one first-degree male relative diagnosed with breast cancer at any age
-one first-degree relative with bilateral breast cancer where the first primary was diagnosed younger than 50
Breast cancer screening at younger age due to TWO relatives.
-two first degree relatives, or one first-degree and one second-degree relative diagnosed with breast cancer at any age
-one first-degree or second-degree relative diagnosed with breast cancer at any age and one first-degree or second-degree relative diagnosed with ovarian cancer at any age (one of these should be a first-degree relative)
Breast cancer screening at younger age due to THREE relatives.
Three first-degree or second-degree relatives diagnosed with breast cancer at any age
POP missed pill >3hrs late
Take missed pill asap (only one even if missed several)
Take next pill at usual time (even if taking two pills in a day)
Alternative contraception until normal pill-taking resumed for 48hrs
Exception: desogestrel can be taken up to 12 hours late
IUD mode of action
Prevent fertilisation by:
-Decreased sperm motility and survival
Effective immediately
IUS mode of action
Levonorgestrel:
-Prevents endometrial proliferation
-Cervical mucous thickening
Reliable after 7 days
COCP absolute contraindications
(UKMEC 4: represents an unacceptable health risk)
-Over 35 and smoking more than 15 cigarettes/day
-Migraine with aura
-History of VTE or thromboembogenic mutation
-History of stroke or ischaemic heart disease
-Breast feeding <6 weeks post-partum
-Uncontrolled hypertension
-Current breast cancer
-Major surgery with prolonged immobilisation (stop 4 weeks before elective, restart once mobilising)
COCP relative contraindications
(UKMEC 3: disadvantages generally outweigh the advantages)
-Over 35 and smoking less than 15/day
-BMI > 35 kg/m^2
-Family history of VTE in first degree relative <45 years
-Controlled hypertension
-Immobility eg wheelchair use
-Carrier of gene mutations associated with breast cancer eg BRCA1/BRCA2
-Current gallbladder disease
Contraceptive injection mode of action
Depo Provera = medroxyprogesterone acetate 150mg
Inhibits ovulation
Also thickens cervical mucus and thins endometrium
Failure rate of female sterilisation
1 in 200
Emergency contraception - levornogestrel
(Levonelle)
Stops ovulation and inhibits implantation
Must be taken asap, within 72hours of UPSI
1.5mg or 3mg if BMI >26 or weight > 70kg
Repeat dose if vomiting with 2 hours
Emergency contraception - ulipristal
(EllaOne)
Progesterone receptor modulator. Inhibits ovulation
30mg dose. No later than 120 hours after UPSI.
Caution in asthma.
Delay breastfeeding for 1 week.
Reduces effect of contraeption - use barried methods for 5 days.
Emergency contraception - IUD
Within 5 days of UPSI
If presents after 5 days, may be fitted up to 5 days after ovulation date
Mode of action COCP
Inhibits ovulation
Mode of action POP
(excluding desogestrel)
Thickens cervical mucus
Mode of action Desogestrel-only pill
Primary: Inhibits ovulation
Also: thickens cervical mucus
Mode of action injectable contraceptive
(medroxyprogesterone acetate)
Primary: Inhibits ovulation
Also: thickens cervical mucus
Mode of action implantable contraceptive
(etonogestrel)
Primary: Inhibits ovulation
Also: thickens cervical mucus
Mode of action IUD
Decreases sperm motility and survival
Mode of action IUS
(levornogestrel)
Primary: Prevents endometrial proliferation
Also: Thickens cervical mucus
Mode of action Levornogestrel
Inhibits ovulation
Mode of action Ulipristal
Inhibits ovulation
Mode of action IUD (as emergency contraception)
Primary: Toxic to sperm and ovum
Also: Inhibits implantation
Cancer risk with COCP
-Increased risk of breast and cervical cancer
-Protective against ovarian and endometrial cancer
Time until IUD effective
Instant
Time until POP effective
2 days
Time until COCP effective
7 days
(Or immediately if within first 5 days of cycle)
Time until contraceptive injection effective
7 days
Time until implant effective
7 days
Time until IUS effective
7 days
Inevitable miscarriage
Heavy bleeding with clots and pain
Cervical os open
Borderline or mild dyskaryosis
Original sample tested for HPV
-if negative > routine recall
if positive > refer for colposcopy
Moderate dyskaryosis
CIN II
Urgent colposcopy
(within 2 weeks)
Severe dyskaryosis
CIN III
Urgent colposcopy
(within 2 weeks)
Suspected invasive cancer
Urgent colposcopy
(within 2 weeks)
Inadequate
Repeat smear
-if 3 inadequate samples > colposcopy
Smear post-treatment for CIN?
Invited 6 months after treatment for CIN1, CIN2 or CIN3, for ‘test of cure’ cytology
High risk HPV subtypes
16, 18 + 33
Gardasil protects against HPV serotypes..
HPV 6, 11, 16 + 18
HPV vaccination UK
All 12 + 13 year olds (girls and boys) in school Year 8
2 doses, 6-24months apart
Follicular phase (proliferative phase)
day 5-13
Ovulation
Day 14
Luteal phase
(secretory phase)
Day 15-28
Missed miscarriage
gestational sac containing dead fetus before 20 weeks, without symptoms of expulsion
Type II hypersensitivity: diseases caused by ‘antibody and complement-mediated destruction’
-Autoimmune haemolytic anaemia
-Wrong blood transfusion reaction
-Goodpasture’s Syndrome
Type II hypersensitivity:
antibody-dependent cell-mediated cytotoxicity
-Medication-induced haemolytic anaemia/thrombocytopenia/neutropenia
-Transplant rejection
-Immune reaction to parasites or tumours
Type II hypersensitivity:
Target cell dysfunction
-Pernicious anaemia
Type III hypersensitivity reaction
=Immune complex mediated.
eg
- SLE
-Serum sickness
-Post-streptococcal glomerulonephritis
-EAA (acute phase)
Type III hypersensitivity reaction
=Immune complex mediated.
eg
- SLE
-Serum sickness
-Post-streptococcal glomerulonephritis
Type IV hypersensitivity
“Delayed” and T-cell mediated
eg
-GVHD
-Allergic contact dermatitis
-Scabies
-MS
-Guillain-Barre Syndrome
Type V hypersensitivity
Antibodies bind to cell surface receptors and stimulate or block ligand binding
eg:
- Graves’ disease
-Myasthenia Gravis
Antibodies in Graves’ disease
-TSH receptor stimulating antibodies (90%)
- anti-thyroid peroxidase antibodies (75%)
Antibodies in Myasthenia Gravis
- against nicotinic acetylcholine receptors
Booking visit - when?
8 - 12 weeks (ideally <10 weeks)
Booking visit components
-diet, alcohol, smoking, folic acid, vitamin D, antenatal classes
-BP, urine dipstick, check BMI
-Booking bloods
Booking bloods
-FBC, blood group, rhesus status, red cell alloantibodies, haemoglobinopathies
-hepatitis B, syphilis, rubella
-HIV test offered
-urine culture for asymptomatic bacteriuria
Early scan
10 - 13+6 weeks
Confirm dates, exclude multiple pregnancy
Down’s syndrome screenig + nuchal scan
11 - 13+6 weeks
16 week appointment
Information on anomaly and blood results
If Hb <11g/dl iron
BP + urine dipstick
Anomaly scan
18 - 20+6 weeks
25 week appointment
Primip only
BP, dipstick, SFH
28 week appointment
BP, dipstick, SFH
Second screen for anaemia and atypical red cell alloantibodies
If Hb <10.5 consider iron
First dose anti-D prophylaxis for rhesus negative women
31 week appointment
Primip only
Routine care
34 week appointment
Routine care
Second dose of anti-D prophylaxis to rhesus negative women
Information on labour and birth plan
36 week appointment
Routine care
Check presentation - offer ECV if indicated
Information on breast feeding, vitamin K, ‘baby-blues’
38 week appointment
Routine care
40 weeks
Primip only
Routine care
Discussion options for prolonged pregnancy
41 weeks
Routine care
Discuss labour plans and possibility of induction
Antitbiotics safe in breastfeeding
-Penicillins
-Cephalosporins
-Trimethoprim
Antibiotics to be avoided in breastfeeding
-Ciprofloxacin
-Tetracycline
-Chloramphenicol
-Sulphonamides
Anti-epileptic drugs acceptable in breastfeeding
-Sodium valproate
-Carbamazepine
Psychiatric drugs acceptable in breastfeeding
Tricyclic antidepressants
Antipsychotics
Pyschiatric drugs avoided in breastfeeding
Lithium
Benzodiazepines
Warfarin and heparin in breastfeeding?
Acceptable
Aspirin in breastfeeding?
Avoid
Carbimazole in breastfeeding
Avoid
Methotrexate/cytotoxics in breastfeeding
Aoid
Sulfonylureas in breastfeeding
Avoid
Digoxin in breastfeeding
Allowed
Beta-blockers in breastfeeding
Allowed
Amiodarone in breastfeeding
Avoid
Levothyroxine in breastfeeding
Allowed
Group B strep full name
Streptococcus agalactiae
Earliest time anomaly scan can be done
18 weeks
Earliest time dating scan can be done
8 weeks
Earliest time nuchal scan can be done
11 weeks
Sodium valproate in pregnancy
Avoid - associated with neural tube defects
Carbamazepin in pregnancy
Avoid - teratogenic
Phenytoin in pregnancy
Avoid - associated with celeft palate
Lamotrigine in pregnancy
Allowed
Metformin and breastfeeding
Allowed
Congenital rubella triad
-Sensorineural deafness
-Eye abnormalities
-Congenital heart disease
Congenital CMV
-Sensorineural deafness
-Cerebral calcification
-Microcephaly
Congenital parvovirus B19
Hydrops fetalis + death
Congenital toxoplasmosis
-Intracranial celcification
-Hydrocephalus
-Epilepsy in child
Down’s syndrome combined test
Include nuchal scan
11 - 13+6 weeks
Triple or quadruple test
Between 15 and 20 weeks
Chickenpox during pregnancy - maternal disease
Increased maternal morbidity, pneumonia, hepatitis, encephalitis
Oral aciclovir if present within 24hr of rash onset and >20 weeks gestation
Chickenpox during pregnancy - fetal disease
-Skin scarring
-Limb hypoplasia
-Microcephaly
-Eye defects
Greatest risk before 20 weeks