Overview Flashcards
Ovarian artery comes off of the aorta at what level?
L2(/3)
Aorta bifurcates into the common iliacs at what level?
L4
Branches of the internal iliacs that exit the pelvis are? x3
Superior gluteal
Inferior gluteal
Internal pudendal
The branches of the internal iliac artery that exit the pelvis all pass through which structure?
Greater sciatic foramen
Branches of the internal iliac that remain in the pelvis? x5
Umbilical artery Obturator artery Inferior vesical artery Uterine/vaginal arteries Middle rectal artery
Uterine artery anastomoses with which artery?
Ovarian
When does the external iliac artery become the femoral artery?
Once it passes under the inguinal ligament
Symptoms of ectopic pregnancy x8
Light vaginal bleeding Nausea and vomiting with pain Lower abdominal pain Sharp abdominal craps Pain on one side of the body Dizziness/weakness Pain in shoulder, neck or rectum Possible fainting
Most common location for ectopic pregnancy?
Ampulla of the fallopian tube
Why does ectopic pain present in the shoulders and neck?
Blood can irritate the diaphragm - nervous innervation C3, 4, 5
Artery to the body of uterus?
Uterine
Artery to the cervix of uterus?
Vaginal
Artery to upper part of uterus?
Vaginal
Artery to the fundus of uterus?
Uterine
What is the artery of sampson?
Anastomosis between uterine, ovarian and vaginal artery
Vaginal artery branches off of which artery with what?
Branches off of internal iliac with the uterine artery
Three ligaments that support the uterus are?
Transverse cervical/cardinal ligaments
Pubocervical ligaments
Sacrocervical ligaments
Rectouterine pouch is also known as?
Pouch of Douglas
External iliac vein and artery - which is medial and which is lateral?
VEIN - MEDIAL
ARTERY - LATERAL
Most important function of levator ani muscle?
Prevention of uterine prolapse
What is uterine prolapse?
Uterus slips down into/protrudes out of the vagina
What re enters the pelvis through the lesser sciatic foramen?
Internal pudendal artery/vein
Three branches of the pudendal nerve?
Inferior rectal nerve
Dorsal nerve of penis/clitoris
Perineal nerve
Function of bulbospongiosus muscle? x2
Reduces the size of the vaginal orifice
Compresses the dorsal vein of clitoris for excretion of moisture to the vagina
Bartholin’s gland - located anterior or posteriorly?
Posteriorly
Appearance of the clitoris?
Bulb shaped structure anteriorly located
Nerve roots of pudendal nerve?
Sacral plexus - S2, 3, 4
Bartholin’s gland is also known as?
Greater vestibular gland
Where are general visceral afferents sympathetic?
T1-L2
Where are general visceral afferents parasympathetic?
S2-S4
Spinal anaesthesia anaesthesis what area?
Complete anaesthesia below the waist
Where is spinal anesthesia carried out? (vertebral level)
L4-L5
What commonly follows spinal anesthesia?
Headache
Where is pudendal nerve block administered?
S2-S4
Perineal nerve block anaesthathises what region?
Perineum and the lower 1/4 of the vagina
What does caudal epidural anaesthesise?
Cervix and vagina
Which muscle of the levator ani forms a sling around the rectum?
Puborectalis
Which anaesthesia type is done most inferiorly?
Pudendal nerve block
Which anaesthesia type is done most superiorly?
Spinal block via lumbar puncture
What is cytocele?
Prolapse of the uterus
What is rectocele?
Prolapse of the rectum
What is enterocele?
Prolapse of the small intestine
What is urethrocele?
Prolapse of the urethra into the vagina (posteriorly)
What is the innervation of the perineum?
Perineal nerve arising from the pudendal nerve
Pudendal nerve is derived from
Nerve roots of the perineal nerve?
S2, 3, 4
Perineal nerve arises from the pudendal nerve
Pudendal nerve is derived from the somatic plexus - nerve roots S2, 3 and 4
Right ovarian vein drains to?
Inferior vena cava IVC
Left ovarian vein drains to?
Left renal artery
Urethra is located in which zone of the prostate?
Transitional
Prostate cancer occurs in which zone of the prostate?
Hyperplasia in peripheral zone
Benign hyperplasia of the prostate occurs in which zone?
Transitional
Natural transitional changes with age
Which cells are involved in BHP and which zones?
Stromal cells
In the transitional zone
Four factors that contribute to BHP
Increasing age
Testicular androgens
Oestrogens
Neurotransmitters (from gland)
Testosterone is normally converted to what? x2
Estradial
DHT
Effect of estradial on stromal cells is?
Proliferation
Enzyme involved in conversion of estradial to DHT?
5-alpha-reductase
Effect of oestrogen on epithelial cells?
Apoptosis
Five symptoms of BHP
Weak/interupted flow of urine Nocturia - frequent urination Trouble urinating Pain or burning during urination Blood in urine or semen SHITE FUN
Of those that have BHP, how many will have histological changes?
50%
Four ways to diagnose BHP?
History
Digital rectal exam (DRE)
Ultrasound - biopsy
Blood test
What are you looking for in the blood test for BHP?
PSA levels - prostate specific antigen
PSA is specifically known as?
Gamma-seminoprotein
Two treatment types for BHP?
Alpha-1 adrenergic blockers
5-alpha reductase inhibitors
Function of alpha-1 adrenergic blockers for treatment of BHP?
Relaxation of smooth muscle in the bladder neck - urethra can dilate and aids urine flow
Function of 5-alpha reductase inhibitors?
Prevents conversion of testosterone to DHT
SO prevents apoptsis
Name two 5a reductase inhibitors
Dutasteride
Finasteride
Five surgical options for BHP?
Transurethral resection of the prsotate Open prostactectomy Laser ablation Transurethral microwave High energy ultrasound therapy
Indication for use for open prostatectomy?
For very large prostate
PSA levels - BHP vs. prostatic cancer
PSA levels much greater in prostatic cancer than in BHP
Which inguinal hernia type will appear in the testes?
Indirect
Which inguinal hernia type will appear through the abdominal wall?
Direct
Which arteries undergo expansion during an erection?
Cavernosa arteries
What causes the veins of the penis to close to allow for an erection?
Blood pressure of the arteries rises about systolic pressure
Muscular involvement of erection is?
Smooth muscle relaxation - also occludes the veins
Chemical involved in erection is?
NO - smooth muscle relaxation
Receptors involved in ejaculation?
Noradrenaline - sympathetic
Treatment for erectile dysfunction is? x2
PDE-5 inhibitor - sildenafil/viagra
Penile prosthetics
Peyronie’s disease is recognised via?
Bent penis
What is variocele?
Varicose veins of the scrotum
Variocele more common in which testicle?
Left
Why does variocele lead to infertility?
Pooling of blood - 2 degree rise in temperature
How can you recognise the ureter from a prosection?
Ureter follows the same path as the internal iliac artery
Gleeson grading system is used for?
Assessment of development of prostate adenocarcinomas
Gleeson grade 1 vs. gleeson grade 5?
Gleeson grade 1 - well differentiated
Gleeson grade 5 - poorly differentiated
Sertoli/leydig cell - which of these is the interstitial cell located in interstitial tissue?
Leydig cell
What is meant by cryptcorchidism?
Undescended/maldescended testes
Maldescent of the testes is a risk factor for what?
Seminoma development - germ cell tumour
How can you differentiate between seminomas and non-seminomatous germ cell tumours?
Seminomas are usually pure and composed of one cell type
Non-seminomatous tumours are usually composed of a mix of tumours
Seminoma is in males or females?
Males
Seminoma equivalent in females?
Dysgerminoma
Seminoma/non-seminomatous germ cell tumours - which tend to be diagnosed at more/less advanced stages?
Seminomas - tend to be detected earlier on
Non-seminoma - tends to be detected at more advanced stage
What is a colposcopy?
Smear test
Changes to the breast with age - relating to adipose tissue
Increasing age, increased levels of adipose tissue in the breast
Benign breast tumour is often what tumour?
Fibroadenoma
What are the epithelial cells lining the prostate?
Pseudostratified epithelial cells
Alpha-fetoprotein (AFP) stains for what male tumour?
Yolk-cell tumour
Type 1 ovulatory cause of infertility is?
Hypopituitary failure
Type 2 ovulatory cause of infertility is?
Hypopituitary dysfunction
Type 3 ovulatory cause of infertility is?
Ovarian failure
Cause of type 1 ovulatory cause of infertility is?
Anorexia nervosa
Cause of type 2 ovulatory cause of infertility is? x2
PCOS
Prolactinaemia
Cause of type 3 ovulatory cause of infertility is?
Premature ovarian failure under 40 years old
Percentage of women in the UK with polycystic ovaries?
33%
Are polycystic ovaries the same as PCOS?
No
Presence of what condition must also be present for PCOS?
Metabolic abnormalities
Fibroids are what specifically?
Uterine leiomyoma - benign tumour of uterine smooth muscle myometrium
Drugs causing infertility in women x5
Long term NSAIDs Chemo Neuroleptics Spironolactone Depo-provera
80% of couples that present with infertility are pregnant after how many cycles?
12
Early referral to specialist for infertility is made if? x2
Woman is over 36 years old
Known clinical cause of infertility/history of predisposing factors for infertility
Five tests done for PCOS screen?
Day 21 progesterone FSH levels LH levels Serum testosterone Glucose levels
LRL volume of sperm count?
1.5
LRL progressive motility for sperm count?
32%
LRL morphology for sperm count?
4% normal
Ovarian reserve testing used to test?
Response in IVF
Investigation used to asses uterine function?
Laparoscopy
Investigation used to asses tubal function?
HSG dye to image tubes
Three treatments for type 1 ovulatory disorder?
Increase weight
Decrease exercise
Consider pulsatile GnRH
Treatment for type 2 ovulatory disorder?
Weight loss to BMI 30 or below
First line treatment for PCOS?
Consider clomiphene or metformin
Main side effect of metformin is?
GI side effects
Second line treatment for PCOS? x3
Combined clomiphene and metformin
Laparoscopic ovarian drilling
Gn therapy
Donor eggs should be considered in which type of ovulatory disorder?
Type 3 - ovulatory failure
Contraindication of clomiphene use?
Should not be offered in unexplained infertility
IVF should be offered for unexplained infertility when?
After two years
IUI offered to? x3
Cannot have vaginal intercourse e.g. disability
Sperm wash required
Same sex relationships
How many cycles of IUI before IVF is offered?
12
IVF offered to who? x2
Women under 42 who have not conceived for two years of unprotected sex
How many cycles of IVF offered to women under 40?
3
How many cycles of IVF offered to women between 40 and 42?
1
Gn or clomifene treatment has what adverse effect?
Ovarian hyperstimulation syndrome
Intracytoplasmic sperm injection (ICSI) indicated for use in? x4
Severe deficits in semen quality
Obstructive azoospermia
Non-obstructive azoospermia
Couple in whom prior IVF has failed/poor outcome
Ovarian tumours are a small risk of what fertility treatment?
IVF
Relation of pregnancy to diabetes?
Pregnancy is a state of insulin resistance and glucose intolerance
Secretion of what three anti-insulin hormones in pregnancy?
HPL
Cortisol
Glucagon
Percentage of women taht develop diabetes during pregnancy is?
1-2%
Risk factors for gestational diabetes? x6
Previous GDM Macrosomic baby Previous unexplained stillbirth Obesity Glycosuria Polyhydramnios
Four maternal complications of gestational diabetes?
Hyper/hypoglycaemia
Pre-eclampsia
Infection
Thromboembolic disease
Four foetal complications of gestational diabetes?
Macrosomia
Respiratory distress syndrome
Hypoglycaemia
Hyperbilirubinaemia
Glucose tolerance test should be taken when in someone with gestational diabetes?
6 weeks following delivery
Ultrasound should be taken how often in someone with gestational diabetes?
Every two weeks
Most common bacteria causing infection in pregnancy?
Group B streptococcus
Group B strep is normal flora in what percentage of women?
25%
Four consequences of group B strep infection on the neonate?
Pneumonia
Meningitis
Non-focal sepsis
Death
Drug given if known that women has group B strep in vagina?
Benzylpenicillin
Two consequences of UTI on the foetus?
Growth restriction
Preterm labour
Consequence of UTI on the mother during pregnancy?
Pyelonephritis - inflammation of the kidney
Normal treatment for UTI is?
Trimethoprim
Why can trimethoprim not be given in pregnancy
It is teratogenic in first trimestor
First line treatment of UTI in pregnancy?
Penicillin
Second line treatment of UTI in pregnancy?
Cephalpsporin
Untreated syphilis in mother - what is the risk of congenital syphilis?
50% risk
Sign of primary syphilis?
Primary chancre
Sign of secondary syphilis?
Rash
Treatment for syphilis?
Penicillin
Antepartum is when?
Prior to labour
Early antepartum is when?
<24 weeks
Late antepartum is when?
> 24 weeks
Intrapartum is when?
First and second stages of labour
Postpartum is when?
Delivery to six weeks post partum
Miscarriage vs. stillbirth?
Miscarriage <24 weeks
Stillbirth >24 weeks
Hyperemesis gravidarum is?
Exaggerated nausea and vomiting in early pregnancy
Treatment of hyperemesis gravidarum? x4
Dietary advice
IV fluids
Thiamine
Antiemetics
What should be avoided in hyperemesis gravidarum?
Dextrose
Spontaneous miscarriage is?
Foetus dies/delivered dead <24 weeks
Uterine size in threatened miscarriage?
Expected size
Cervical os open or closed in threatened miscarriage?
Closed
What percentage of those who suffer from a threatened miscarriage will then go on to miscarry?
25%
Cervical os open or closed in inevitable miscarriage?
Open
Cervical os open or closed in incomplete miscarriage?
Open
Cervical os open or closed in complete miscarriage?
Closed
Uterine size in missed miscarriage?
Smaller than expected
Cervical os open or closed in missed miscarriage?
Closed
Three investigations for spontaeous miscarriage?
Ultrasound
Serum bHCG
Bloods - FBC, Rhesus
Serum bHCG increases by what percentage in a viable pregnancy?
66% in 48 hours
Recurrent miscarriage is?
Three or more consecutive miscarriages
Cervical incompetence is?
Cervix fails to retain the pregnancy
Ectopic pregnancy is?
Implantation of fertilised ovum outside of the endometrial cavity
Emergency contraception is a risk factor for what (relating to pregnancy)?
Ectopic pregnancy
Presentation of ectopic pregnancy?
PV bleeding - scanty and dark
Lower abdominal pain
Collapse
Amenorrhoea for 4-10 weeks
Gestational trophoblastic disease is also known as?
Molar pregnancy
What is gestational trophoblastic disease?
Trophoblast proliferates more aggressively than normal
Three signs of gestational trophoblastic disease?
PV bleeding
Hyperemesis gravidarum
Passage of vesicles via the vagina
Placental abruption is?
Placenta partially/completely separates from the uterus prior to birth
Description of uterus in placental abruption is?
Woody - tense/tender
Management of placental abruption?
Resuscitate
Steroids if <34 weeks
Placenta praevia is?
When the placenta inserts into the lower part of the uterus after 24 weeks
Major placenta praevia?
Covers the os
Minor placenta praevia?
Does not cover the os
Sign of placenta praevia?
Painless vaginal bleeding
What should NOT be done to investigate palcenta praevia?
Vaginal examination
Four characteristics of pre-eclampsia?
Hypertension
Renal impairment
Fluid retention/oedema
Weight gain
Cause of pre-eclampsia?
Abnormal maternal adaptation to the trophoblast
Cytomegalovirus CMV - what is the virus type?
Herpes virus
Treatment for CMV is?
Gancyclovir
Congenital CMV is the most common cause of what in neonates?
Sensorineural deafness
Varizella zoster virus VZV - four different types are?
Congenital - chicken pox
Neonatal - chicken pox
Infantile - chicken pox
Shingles - adult
VZV virus type is?
Herpes virus
Treatment for VZV is?
(Val)acyclovir
Presentation of shingles is?
Dermatomal rash along dorsal root ganglion from which virus is activated
HSV1 vs. HSV2?
HSV1 - oral
HSV2 - genital
Treatment for HSV?
Acyclovir
Rubella is important as a congenital disease why?
Rubella is the WORST INFECTION FOR THE FOETUS
Four consequences of congenital rubella?
Blind
Sensorineural deafness
Congenital heart disease
Death
Treatment for rubella?
No treatment
MMR vaccine
Can the MMR vaccine be given during pregnancy?
No
Parvovirus also known as?
Slap cheek syndrome
Consequence of parvovirus on the foetus is?
Hydrops fetalis - cardiac failure in feotus
Significance of parvovirus infection?
ANYTHING TO DO WITH BLOOD
Treatment for parvovirus?
Intrauterine blood transfusion
Two routes of spread of toxoplasmosis?
Infected food
Cat
Toxoplasmosis carries the greatest risk in which trimester?
First
Four consequences of toxoplasmosis on the neonate?
IUGR
Hydrocephalus
Microcephaly
Hepatosplenomegaly
Virus responsible for glandular fever is?
Epstein Barr virus
Which viral infection in pregnancy can result in cataracts in the neonate?
Congenital Rubella
Peurperium is?
From delivery to six weeks after
What happens to the uterus during the peurperium?
Uterus involutes
Most common case of maternal death from 2012-2014?
Cardiac disease
What is post-partum haemorrhage PPH?
Excessive bleeding following delivery
Primary PPH is?
> 500ml blood loss from the genital tract within 24 hours
Secondary PPH is?
Abnormal bleeding from genital tract from 24 hours after delivery up until 6 weeks after
Primary/secondary PPH - which is more common?
Primary
Incidence of PPH worldwide?
5%
Four causes of PPH?
Tone - uterine atony
Tissue - retained
Trauma - laceration
Thrombin - coagulopathy
Most common cause of PPH is?
Uterine atony
Initial treatment for uterine atony?
Bimanual uterine massage and compressiion
Hormones given to manage uterine atony? x2
Oxytocic agents e.g. syntometrin
Prostaglandins
Two causes of secondary PPH?
Infection - endometritis
Tissue - retained products of conception
Three symptoms of venous thromboembolism?
DVT
PE
Central vein thrombosis
Three common post-partum mental health conditions are?
Postpartum blues
Postpartum depression
Postpartum psychosis
Postpartum blues are?
Tearfulness and liability at times but mostly happy
Postpartum blues tends to occur when?
3-5 days after delivery
Four symptoms of postpartum psychosis?
Loss of contact with reality
Hallucinations
Severe thought disturbance
Abnormal behaviour
Postpartum depression typically onsets when?
In the first 10 days following childbirth
Fusion of the cardiac tube is complete at what day?
Day 21
Heart starts beating at what day?
Day 23
Atrial, ventricular and outflow tracts of the heart separate by what day of development?
Day 28
Majority of cardiac development occurs in which trimester?
First
What is the foramen ovale?
During foetal life - hole between the atria
What is the ductus arteriosus?
Connection between the pulmonary artery and the aorta
What is the ductus venosus?
Between left umbilical vein and vena cava
Function of ductus venosus?
Blood bypasses the liver from the palcenta
Foetal circulation - pulmonary circulation is high or low resistance?
High
Foetal circulation - systemic circulation is high or low resistance?
Low
Oxygenated blood is in umbilical vein or umbilical artery?
Umbilical vein
Foetal circulation - pulmonary circulation and systemic circulation - which is greater pressure?
Pulmonary pressure > systemic pressure
Foetal circulation - blood flow from R to L or L to R?
Foetal circulation blood flow right to left
Transition circulation from foetus to adult - pulmonary and systemic pressure which is greater?
Systemic pressure > pulmonary pressure
Transitional circulation - blood flow from R to L or L to R?
Left to right
What is persistant pulmonary hypertension of the newborn?
Direction of blood shunting does not reverse at birth
What is transposition of the great vessels?
Aorta takes blood from the right ventricle rather than teh left ventricle and PA takes blood from left ventricle rather than right ventricle
Four features of teratology of fallot are?
Ventricular septal defect
Overriding aorta
Pulmonary stenosis
Right ventricular hypertrophy
What is atresia?
Valve does not form properly and is completely blocked - no blood flow through here
What is ventricular septal defect VSD?
Ventricular septum does not close at birth
Blood flow in VSD?
High pressure on left side of heart so left to right shunting
How can ductus arteriosus be reopened?
Prostaglandin E
Myelomeningocoele is?
Meninges and neural tissue protrude out of the surface - can include the spinal cord
What is gastroschisis?
Defect in abdominal wall lateral to umbilicus
Presentation of gastrochisis?
Bowel is free within the amniotic cavity
Gastrochisis - how long for the bowel to start functioning properly?
1-3 months
Recognise gastrochisis from image?
Bowel/intestine has protruded out of the anterior abdominal wall in the neonate
Apgar score is used to asses what?
Indication for birth asphyxia/neurological signs in neonate
Five components of the apgar score are?
Heart rate Respiratory effort Muscle tone Reflexes Colour
How many grades from the apgar score?
Three
I - less severe
III - more severe, likely to die and definite neurological deficit
Birth asphyxia results in what complication?
Hypoxic ischaemic encephalopathy
Presentation of neonate with asphyxia? x4
No breathing
HR <60 (bradycardia)
Floppy - low tone
Seizures
Treatment of seizures in birth asphyxia? x3
Phenobarbitone
Phenytoin
Clonazepam
Temperature based treatment for HIE?
Cooling baby for
Grading system to asses for HIE is?
Sarnat and sarnat
HIE leads to what major neurological disorder?
Cerebral palsy
Why are neonates with HIE cooled? (hypothermia treatment) x5
Reduced cerebral metabolism Reduced energy use Reduced accumulation of amino acids Reduced NOS activity Reduced free radical activity
Treatment for group B streptocossus infection in the neonate?
Benzylpenicillin
Weight for normal term baby?
3.5kg
Weight of low birthweight baby?
<2.5kg
Weight of very low birthweight baby?
<1.5kg
Weight of extremely low birth weight baby - significance?
1kg - not compatible with life
Premature baby is?
Baby born <37 weeks gestation
Should you cool a premature baby?
NO - can increase chance of death
What is surfactant?
In the lungs to reduce the surface tension and prevent collapse
Significance of surfactant in premature infants?
Premature - they are surfactant deficient
Respiratory distress syndrome is?
Deficiency in surfactant in the neonate
Hyaline membrane disease is?
Same as respiratory distress syndrome - this is the histological name
Chronic lung disease of infancy is also known as?
Bronchopulmonary dysplasia
What is chronic lung disease of infancy?
If the baby with RDS survives then they are likely to develop this
What is an SGA baby?
Birth weight below 10th centile for gestation
Is an SGA baby pathological?
No e.g. small parents
Four causes of SGA baby
Chromosomal abnormalities
Normal
Smoking
Multiple pregnancy
Methods to monitor foetal growth? x2
Abdominal circumference
Head circumference
IUGR is?
Faltering growth of the foetus - failure to achieve normal foetal growth rate
Incubator for premature infant is warm or cold?
Warm
Incubator for HIE infant is warm or cold?
Cold
Surfactant is composed of? x2
Lipids
Proteins
Causes of nutritional challenges in preterm baby x4
Immature sucking
Presence of digestive enzymes
Poor gut motility
Cannot tolerate enteral feeds
Preterm baby requires how many calories for growth?
110-135kcal
Ig to baby transplacentally is?
IgG
What happens to the gut if the baby is not fed?
Gut mucous atrophy
What is necrotising enterocolitis?
Acute bacterial invasion/inflammation - necrosis of bowel
Four risk factors of necrotising enterocolitis?
Prematurity
Hypoxia
Infection
Enteral feeding
Presentation of necrotising enterocolitis? x5
Abdominal distension Tenderness Discolouration Blood in stools Generalised collapse
Treatment of respiratory distress syndrome? x2
Surfactant
Respiratory support
Cause of persistant pulmonary hypertension of newborn PPHN?
Patent ductus arteriosus
Surfactant composed of? x2
Phospholipids
Lipoproteins
What is pneumotosis?
Gas formation in the bowel wall
Most common infection in neonates <48 hours of birth?
Group B strep
Most common infection in neonates >48 hours of birth?
Negative staphylococci
Most common infection in neonates >48 hours of birth?
Negative staphylococci
Most common cause of IUGR?
Utero-placental insufficiency
Monochorionic twins are?
Twins share placenta
Dichorionic twins are?
Each twin has their own placental unit
Twin-twin transfusion is?
In monochorionic twins - one receives increased level of circulation than the other and grows larger
Edwards syndrome cause?
Trisomy 18
Age of survival with Edwards syndrome?
One year
Three organs prioritised to receive blood flow in hypoxia are?
Brain
Heart
Adrenals
Three organs prioritised to receive blood flow in hypoxia are?
Brain
Heart
Adrenals
Two types of genetic markers are?
Single nucleotide polymorphism - SNP
Short tandem repeat STR
What is a genetic marker?
This tags a piece of DNA and can be used to track genes in families or populations
What is an exome?
All protein coding regions of DNA
Preferential to sequence an exome or a genome?
Exome - much smaller
Genome consist of many tandem repeats which are not valuable
How are genetic variants scaled?
1-5
1 - non-pathogenic
5 - pathogenic
What is the problem with scaling genetic variants?
3 - variant of unknown significance - many variants fall into here
What is the problem with scaling genetic variants?
3 - variant of unknown significance - many variants fall into here
Turner syndrome genetic cause is?
45, X
Turner syndrome - males or females?
Females
Typical therapy administered to those with Turner syndrome?
Oestrogen replacement therapy
Turner syndrome - fertile or infertile women?
Infertile (almost always)
Klienfelter syndrome genetic cause is?
47, XXY
Kleinfelter syndrome - male or females?
Males
Primary feature of Kleinfelter syndrome?
Sterility
Child mental health problems more in boys or girls?
Boys
Four examples of conduct disorder - under 5yo
Aggression - physical and verbal
Destructive
Poor attention and concentration
Frequent, severe tantrums
Five examples of conduct disorder 5-12yo
Lying Stealing Defiance Cruelty to animals Disruption in school Fire setting
Five examples of conduct disorder in adolescence?
Truancy Delinquency Violence Sex offences Drug/alcohol/substance abuse
Conduct disorders - more common in boys or girls?
Boys
Emotional disorders - more common in boys or girls?
No correlation to either sex
Two most prevalent emotional disorders?
Anxiety and fearfulness
Depression
Conduct disorders - relate to socioeconomic status
More prevalent with low socioeconomic status
Emotional disorders - relate to socioeconomic status
No relation to socioeconomic status
Three examples of adjustment disorders
Bereavement
Divorce
Physical illness
Three signs of ADHD
Overactivity
Inattention
Impulsivity
ADHD - more prevalent in boys or girls?
Boys (4:1 ratio)
Child should be able to speak fluently by what age?
3/4
Two diagnostic systems for mental health disorders are?
DSMV
ICD10
Two diagnostic systems for mental health disorders are?
DSMV
ICD10
Most common cause of chronic diarrhoea in childhood?
Irritable bowel syndrome
Most common cause of failure to thrive/weight loss in childhood?
Coeliac/CF
Most common cause of rectal bleeding/bloody stools in childhood?
IBS - Chohns or Ulcertaive colitis
Constipation is?
Infrequent, hard stools - passing stools <3 times per weekC
Soiling is?
Escape of stool into the underclothes
Encopresis is?
Passage of normal stools in abnormal places - involuntary passing of stools
Most common cause of encopresis?
Severe constipation in the child
Constipation is teh cause of what percent of visits t the paediatric practise?
3%
Delayed passage of meconium can result in waht in the child?
Organic cause of constipation
Four red flags for GORD in children
Haematemesis
Failure to thrive
Sandifers syndrome
Aspiration pneumonia
Sandifers syndrome is?
Back arching in infants
pH study - oH of what indicates GORD?
<4
What is ‘impedance’?
Both acid and non-acid reflux
Abnormalities that can be identified by barrium swallow are? x5
GORD Hiatus hernia Aspiration Polyoric stenosis Malrotation
Two drugs that can be given to reduce acidity in children suffering from GORD?
H2 antagonists
Protein pump inhibitors
Domperidone given to children with GORD why?
Promotility agent
How can feeds be changed for children suffering with GORD?
Thickening of feeds
Two surgical treatments for children suffering from GORD?
Jejunostomy feeds
Nissen’s funsoplication
What is eosinophillic oesophagitis?
Treatment resistant symptoms of GORD
Investigation to diagnose eosinophillic oesophagitis?
Endoscopy
Drug treatment for esoinophillic oesophogitis?
Budenosine
Drug treatment for esoinophillic oesophogitis?
Budenosine
Differential diagnosis for recurrent abdominal pain? x3
Migraine
IBS
Non-ulcer dyspepsia
Gastritis is?
Inflammation of gastric mucosa
Two causes of gastrisis?
Helicobacter Pylori infection
NSAID usage
Four symptoms of gastrisis?
Vomiting
Abdominal pain
Haematemesis
Anaemia
Three ways to diagnose helicobacter pylori?
Endoscopy
Stool antigen
Urea breath test
Enzyme produced by helicobacter pylori?
Urease
Two treatments for HP infection?
Amoxycillin
Carithromycin
Three symptoms of Crohn’s disease?
Abdominal pain
Weight loss
Diarrhoea
Serum changes in Crohn’s disease? x4
Raised ESR and CRP
Low albumin and Hb
Treatment for IBD x4
Exclusive enteral nutrition only (Crohn’s)
Steroids
5-ASA
Biologicals (anit-TNF infliximab)
Cause of painless rectal bleeding in toddlers?
Juvenile polyps
Juvenile polyps also known as?
Hamartoma
Exotoxin is?
Protein secreted by pathogen
Pathogen causing diptheria is?
Corynebacterium diphtheriae
Endotoxin is?
Part of the outer membrane of teh pathogen
What bacteria type have endotoxins?
Gram-negative bacteria
When are endotoxins released?
During lysis of organism
Endotoxin release causes what in the immune system?
Macrophage activation
Three effects of meningococcal disease on the body?
Myocardial depression
Endothelial dysfunction - leak
Coagulopathy
What is a fever?
Rectal temperature >37.8 degrees
Taking temperature by mouth - significance?
Temperature will be 0.5 degrees lower than rectal temperature
Taking temperature by underarm - significance?
Temperature will be 1 degree lower than rectal temperature
Three organisms that cause septicaemia and meningitis?
Streptococcus pneumoniae
Neisseria meningitidis
Haemophilus influenzae B
Four early of septicaemia
Tachycardia
Tachypnoea
Prolonged capillary refill
Rash
Late sign of septicaemia?
Low BP
Signs of meningitis?
High temperature Headache Cannot tolerate bright lights Stiff neck Drowsy Vomiting
How is meningitis diagnosed?
Lumbar puncture - CSF
How to differentiate the cause of meningitis using CSF?
Protein content
Three potential causes of meningitis?
Bacterial
Viral
TB
Top 3 organisms causing infection in infants are?
Group B strep
E. Coli
Listeria
Most common antibiotic used in older children?
Ceftriaxone
Most common antibiotic used in younger children?
Cefotaxime
Neonatal period is until what age?
First 28 days
Streptococcus gram negative or gram positive?
Positive
Invasive diseases typically enter the body where?
Nasopharynx
Invasive disease - travels through what structure of the ear?
Eustachian tube
Define empyema
Collection of pus in the pleural cavity
Treatment for empyema x2
Chest drain + urokinase
Video assisted thoracoscopic surgery (VATS)
Function of urokinase enzyme?
Conversion of plasminogen to plasmin - used to dissolve clots
Location of urokinase enzyme in the body?
Kidney
Urokinase enzyme also known as?
Urokinase-type plasminogen activator
Vaccine for pneumococcal infection? x2
Pneumococcal polysaccharide vaccine (PPV)
Pneumococcal conjugate vaccine (PCV)
PCV pneumococcal vaccine given when? x3
2 months
4 months
12 months
Pathogen responsible for TB?
Mycobacterium tuberculosis
Number of people infected with mycobacterium tuberculosis worldwide?
1/3
Reactivation of TB has what effect in the lungs?
Forms cavity in the lungs
Pathogen responsible for tetanus?
Clostridium tetani
Clostridium tetani - gram positive or gram negative?
Positive
Tetanus acts where in the body?
Via exotoxin at the NMJ
Where is tetanus found non-pathogenically?
Spores in soil
Five signs of tetanus in neonate?
Weak Lethargic Poor suck Spasms Fits
Clostridium tetani - responsible for what disease?
Tetanus
Two classifications of fungi are?
Yeasts
Moulds
Example of fungi yeast
Candida
Example of fungi mould
Aspergillus
Fungal infection nappy rash - organism responsible is?
Candidiasis
Fungal infection ringworm - organism responsible is?
Tinea corporis
Treatment for candidiasis and tinea corporis is?
Topical antifungal
Give two rare fungal infections
Candidaemia
Pulmonary aspergillosis
Effect of candidaemia in preterm infant? x2
Affects kidneys and brain
Effect of pulmonary aspergillosis
Effects neutrophil function
Chronic granulomatous disease effects impairs function of which cells?
Neutrophils
Wiskott-Aldrich syndrome impairs function of which cells?
T-cells
Rare fungal infections rely on what for invasion?
Immunosuppression
Classification of protozoa x3
Sporozoa
Amoebae
Flagellates
Protozoa species causing malaria are?
Plasmodium
Plasmodium protozoa (malaria) are what type of protozoa?
Sprozoa
Four plasmodia causing malaria?
P. falciparum
P. vivax
P. ovale
P. malariae
Pathogen causing most severe strain of malaria is?
P. falciparum
Malaria causes how many deaths of children per year?
1 million
Four non-specific signs of malaria
Fever
Lethargy
Vomiting
Diarrhoea
Pathogen responsible for toxplasmosis?
Toxoplasma gondii (protozoa)
Splenectomy - risk of infection by what bacteria? x3
Encapsulated bacteria:
Pneumococcus
HiB
Meningococcus
Birth of preterm baby <24 weeks not viable - why? x2
Insufficient levels of surfactant and insufficient lung development
Pulmonary artery has a thin wall - why?
Low pressure blood to the lungs
Cause of a wheeze?
Oscillations in narrowed airways
Wheezes are inspiratory or expiratory?
Can be either
Frequency of wheeze is dependent on what factors? x3
Degree of narrowing
Elasticity of airway wall
Local airflow
Preschool wheeze is normally triggered by what?
Colds
Three risk factors for preschool wheeze?
Smoking in pregnancy
Air pollution
Younger mother
What is a transient early wheezer?
Wheeze only during first three years of life
Difference in transient early wheezers at birth compared to normal?
Born with low lung function and hyper-reactive lung
Transient early wheezers have normal lung function by what age?
11
Non-atopic wheezers tend to wheeze at what age range?
3-6 years
Asthma inflammation - lungs infiltrated with which two cells?
Lymphocytes
Eosinophils
Three histological changes in atopic asthma?
Goblet cell hyperplasia
Thick sub basement membrane
Cellular infiltrate
Wheeze in infants originates from where?
Intra-thoracic airways
Most common childhood malignancy is?
Acute lymphoblastic leukaemia (ALL)
Most frequent cause of death from cancer in the <20 age group is from?
Acute lymphoblastic leukaemia (ALL)
Three presentations of ALL?
Bruising/bleeding
Pallor and fatigue
Infection
Bruising/bleeding in ALL is due to?
Thrombocytopenia
Pallor and fatigue in ALL is due to?
Anaemia
Infection in ALL is due to?
Neutropenia
Two mutations of ALL are?
MLL translocation
TEL-AML1 translocation
MLL translocation in ALL occurs in which cells?
CD19+
TEL-AML1 translocation occurs in which cells? x2
CD19+
CD10+
Four phases of treatment for ALL are?
Induction
Consolidation
Maintenance
Bone marrow transplantation
Wilms’ tumour is also known as?
Nephroblastoma
Wilms’ tumour effects which organ?
Kidney
Wilms’ tumour - common age of onset?
<5 years
Prevalence of Wilms’ tumour?
1/10,000 children
Presntation of Wilms’ tumour?
Asymptomatic abdominal mass
Does Wilm’s tumour typically metastasis?
No
Wilms’ tumour bilateral or unilateral?
Often bilateral
Three cell types in Wilms’ tumour?
Blastema
Epithelia
Stroma
Gene activated in Wilms’ tumour is?
CTNNB1
Genes inactivated in Wilms’ tumour are? x3
WT1
WTX
TP53
Retinal blastoma is?
Tumour of the retina
Retinal blastoma occurs at what age?
<5 years
Prevalence of retinoblastoma in the <5yo age group?
5%
Three symptoms of retinoblastoma?
Leukocoria
Eye pain/redness
Vision problems
Define leucocoria
White pupil when light is shone into it
Retinoblastoma is metastatic in what percentage of patients?
10-15%
Cellular origin of retinoblastoma is?
Cone precursor cells
Loss of what gene/protein in retinoblastoma?
RB1
Effect of non RB1?
Free E2F induces G1-S transition in cell cycle
Activation of what gene in retinoblastoma?
MYCN - oncagene
Amplification of what two genes in retinoblastoma?
MDM2
MDM4
What pathway is inactivated in retinoblastoma?
p53 pathway inactivated
Most common cancer in the first year of life is?
Neuroblastoma
Three genes involved in development of neuroblastoma are?
MYCN
ALK
PHOX2B
Five steps in the viral life cycle
Attachment Entry Uncoating Synthesis of viral components Assembly and release
Viruses have DNA or RNA?
Can have either
Four stages of Hep B infection
Tolerance
Clearance
Latency
Reactivation
Two consequences of chronic Hep B infection
Cirrhosis
Hepatocellular carcinoma
What is palivizumab?
Monoclonal antibody given for the prevention of bronchiolitis
Koplik spots are presnt in what vital infection?
Measles
Increased methylation - switches genes on or off?
Off
Decreased methylation - switches genes on or off?
On
Hypothalamo-pituitary axis - dopamine is inhibitory to?
Prolactin
Hypothalamo-pituitary axis - somatostatin s inhibitory to? x2
TSH
GH
In which zone of the prostate gland is BHP most likely?
Transitional
In which zone of the prostate gland is prostatic cancer most likely?
Peripheral
In which zone of the prostate gland do the ejaculatory ducts open into?
Central
In which zone of the prostate gland does the urethra run through?
Transitional
The remnant of the uterus in the male is located where?
In the prostate
What is located at the mid-inguinal point?
Femoral artery
Keratin pearls are present in which histological diagnosis in female pathology?
Cervical squamous cell carcinoma
Koilocytes form in which histological diagnosis in female pathology?
Cervical neoplasia due to HPV infection
Basal layer is absent in what pathology of the prostate?
Adenocarcinoma of the prostate
Varicose veins of the testicle is called?
Variocele
Variocele is more common in right or left testicle?
Left
Whey is variocele more common in left testicle than right?
Left testicular vein drains into the renal vein at a right angle
Diagnostic test to differentiate between BHP and prostate cancer is?
PSA level
Incontinence during childbirth occurs due to which levator ani muscle specifically?
Puborectalis
Function of the trigone?
Signals to the brain when teh bladder is full
How does the trigone carry out its function?
Sensitive to stretch
Omphalocele vs. gastroschisis?
Gastroschisis - protrusion of the intestines through the ansterior abdominal wall
Omphalocele - protrusion of the intestines still contained within the peritoneum through the anterior abdominal wall
What is the blood supply to the perineum?
Perineal artery
What is the origin of the perineal artery?
Internal pudendal artery
What is the origin of the superior rectal artery?
Inferior mesenteric artery
What is the origin of the middle rectal artery?
Internal iliac artery
What is the origin of the inferior rectal artery?
Internal pudendal artery
