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91 Cards in this Set

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Male causes of infertility


4 categories

Epididymo-orchitis, esp. due to mumps


Testicular cancer, iatrogenic causes


Congenital factors: congenital undescended testes, cystic fibrosis, Klinefelter's


Idiopathic presentations: oligospermia, asthenospermia, tetarozoospermia, azoospermia

Polycystic ovary syndrome:


causes

Excess LH causes increased theca cell testosterone


AND/OR hyperinsulinaemia stimulates testosterone production


and suppresses hepatic production of sex hormone binding globulin, increasing free testosterone



Benign prostatic hyperplasia: cause, investigation, symptoms, Tx (2 drugs)

Caused by age and prevention of apoptosis of transitional zone cells by testosterone.


Enlarged prostate, smooth in DRE. Rectal USS +/- biopsy


Urinary symptoms ('shite'): slow stream, hesitancy, intermittent flow, terminal dribbling, emptying incompletely.


Tx: α1 adrenergic blockers to relax bladder. 5α-reductase inhibitor to prevent DHT production. Surgery

Hernia: types

Indirect inguinal: bowel pushed entirely through inguinal canal into scrotum


Direct inguinal: abdo wall weakness allows section of bowel to protrude; rarely enters scrotum


Femoral: bowel passes through femoral ring.

Erectile dysfunction: risk factors (x4), treatment

Diabetes, vascular disease, radical surgery, spinal injury

Tx: sildenafil - PDE5 inhibitor; prevents NO-mediated smooth muscle relaxation in the corpus cavernosa, maintaining engorgement



Gestational diabetes: pathophys, risk, complications (x2 pregnancy, x4 foetal)

Exaggeration of physiological insulin resistance/hyperinsulinaemia

Risk: same as T2D


Complications: maternal complications as in T2D, pre-eclampsia, TED, macrosomia, RDS, foetal hypoglycaemia, jaundice





Pre-eclampsia:


definition


pathophys


signs (x6)


complications (3 maternal, 3 foetal)


Tx

Perinatal HT (>140/90mmHg) with proteinuria.


Related to abnormal placental development, underperfusion, maternal inflammation


Signs: thrombocytopaenia, headache, oedema, liver dysfunction, visual disturbance, abdo pain/vomiting


Complications: seizures, DIC, renal failure, RDS, SGA, preterm delivery


Tx: Anti-HT Tx, seizure prophylaxis with magnesium sulfate, induction of labour considered



Morning sickness: definition, if refractory

1st trimester nausea due to hCG. 90% resolve by 16 weeks




Persistent vomiting with weight loss and increased ketones is 'hyperemesis gravidarum'.

Categories of miscarriage + definitions

Threatened - light, painless bleeding. Foetus NGA


Inevitable: heavy bleeding, cramps, open cervical os. Delivery imminent


Incomplete - delivery of some foetal parts with continued bleeding.


Complete - Stillbirth of all foetal parts and cessation of bleeding


Septic - with endometritis, offensive vaginal discharge, uterine tenderness. Risk of wider sepsis


Missed - failure of foetal development. Minimal pain/bleeding

Ectopic pregnancy: definition, symptoms/signs (x4), management

Implantation of fertilised ovum outside endometrial cavity. 95% tubal. 70% live births.


Symptoms: PV bleeding, lower abdo pain, Uterus small for gestation, closed cervical os.


Management: β-hCG monitoring, USS/endoscopy. Surgical removal/methotrexate if required.

Gestational trophoblastic disease: cause, signs (x4), diagnosis, management

Molar pregnancy


Aggressive trophoblast proliferation. Due to triploidy/complete paternal DNA.


Signs: bleeding PV, hyperemesis gravidarum, PV trophoblastic vesicles, enlarged uterus.


USS diagnosis ('snowstorm' appearance)


Evacuation of retained products of conception with suction curettage; chemo if malignant

Placental abruption: definition, signs (x4), management

Partial/complete separation of placenta and decidua prior to parturition.


Signs: intense, constant abdo pain, shock/oliguria/DIC, tense uterus, (+/- PV blood)


Mother may need stabilisation and early labour/C-section may be indicated

Placenta praevia: definition, presentation (x2), complications (x4)

Insertion of placenta into lower section of uterus


Painless PV bleeding with soft, non-tender uterus


Complications: cervical obstruction (C-section), malpresentation, postpartum haemorrhage,


Implantation in prior C-section scar = placenta accreta (hysterectomy required)


Management: no vaginal investigations

Congenital group B streptococcus: transmission, foetal effects (x3)



Normal maternal bacterial flora - risk of transmission in preterm ROM, GBS bacteriuria at parturition


ABX prophylaxis in labour possible


Neonates may develop:


pneumonia


meningitis


generalised sepsis

Congenital toxoplasmosis: prophylaxis, effects x3

Zoonotic parasite. Hygiene measures preventive in pregnancy


Early transmission to neonate may lead to


IUGR


hydrocephalus


microcephaly

Congenital cytomegalovirus: transmission, effects x3



Vertical transmission intrauterine, intrapartum, or lactational


May produce


IUGR,


haematological symptoms (jaundice, thrombocytopaenia)


later sensorineural hearing loss.

Congenital Varicella zoster: effects x3, prophylaxis

May lead to:


maternal pneumonitis


IUGR/preterm delivery


congenital varicella syndrome (severe developmental disorder)




Immunonaive maternal contact may be treated with prophylactic VZV-specific IgG

Congenital rubella: effect x3, prophylaxis

20% risk of miscarriage.


IUGR


Severe multisystem syndrome including deafness, eye defects, neuro delay, congenital heart disease.




Prevention with mass immunisation, rubella immunity screening at booking

Abnormal lie: types, management

breech, shoulder, brow, face etc. presentations


External/internal cephalic versions or spontaneous resolution


If refractory, C-section recommended

Post-partum haemorrhage: causes (x4), management (x3)

Tone - uterine atony


Tissue - retained placental material


Trauma - usually vulval/vaginal lacerations


Thrombin - coagulopathy




Medical management; surgical intervention; bimanual uterine compression; uterotonics eg. syntocinon (oxytocin)

Respiratory distress syndrome: definition, causes, complications (x3), management

Tachypnoea, expiratory grunting, recession under 4/24


May reflect lack of surfactant, infection


Complications: pneumonia, neonatal apnoea, bronchopulmonary dysplasia


Prophylaxis: antenatal steroids, surfactant administration, positive pressure ventilation

Hypoxic-ischemic encephalopathy:


pathophys - initial + 3x delayed


treatment x2

Asphyxia at birth causes ischemic damage and secondary (delayed) neurodegeneration due to excitotoxicity, inflammation, oxidative stress.




Tx: immediate full resuscitation in asphyxia; therapeutic hypothermia (33-34'C)

Intraventricular haemorrhage: definition, complications

Bleeding into ventricular system, particularly from germinal matrix in immature neonates. May cause hydrocephalus and nervous atrophy if severe.



Periventricular leucomalacia definition

PL: Necrosis of white matter in regions bordering arterial territories, mainly affecting preterm neonates.

Pathological neonatal jaundice:


major causes x3


Txs x2

Causes: rhesus/ABO incompatibility; G6PD deficiency (favism); congenital spherocytosis; sepsis.




Tx may include: intrauterine/neonatal transfusion, phototherapy to conjugate cutaneous bilirubin;

Necrotising enterocolitis: definition, signs (x4), Tx (x4)

Gut infection related to prematurity, ischemia


Signs: abdo distension, D&V, PR bleed, X-ray bowel distension


Tx: NG suction, IVABX, feed restriction with TPN, surgery if perforated or necrotic bowel

Transient neonatal hypoglycaemia: causes, Tx

Related to IUGR (limited reserves, relatively large brain) and maternal diabetes (hyperinsulinaemia). Exaggeration of normal 'sluggish' glucose regulation after birth.




Tx with IV dextrose, early breastfeeding (can fortify)

Bronchopulmonary dysplasia: definition, features (x5)

Pathophysiological changes occuring with prolonged artificial ventilation such that oxygen is needed at 36 weeks.


Signs: randomly distributed bronchial collapse (atelactasis) and hyperinflation, inflammation, proliferation, fibrosis, vascular changes etc.

Tetralogy of Fallot: features

Pulmonary artery stenosis


Hypertrophic right ventricle


VSD


Aortic valve overrides VSD

Transposition of the great vessels: definition, management

Conotruncal septum does not follow spiral course: RV empties into aorta; LV into PA. DA usually patent. Presents with cyanosis.




Surgery. Prostaglandin to reopen DA, angioplasty to widen foramen ovale may be indicated acutely.



Turner syndrome:


definition,


features x3 +4 anatomical

Karyotype 45, X


Infertile; anovulatory. Heart defects, diabetes etc. Anatomical features: short stature, webbed neck, 'shield' chest, genu + cubitus valgus

Neonatal heel-prick screening (x6)

Maple syrup urine disease


Congenital hypothyroidism


Cystic fibrosis


Phenylketonuria


Medium chain acyl-CoA dehydrogenase deficiency


Sickle cell/thalassaemia

Short-term symptoms of menopause (4 categories)

Vasomotor: hot flushes, diaphoresis


Psychological: depression, mood swings etc,


Urogenital: urinary incontinence, dyspareunia


Collagen: onycholysis, hair loss, MSK pain

Long-term complications of menopause (4 categories)

CV - hyperlipidaemia, CAD, truncal weight gain


Skeletal - OP, kyphosis/scoliosis


Urogenital - atrophic change, risk of prolapse


Neurological - risk of AD

Pelvic inflammatory disease: definition, symptoms (x3), complications (x2), Tx

Infection of upper female genital tract (uterus, oviduct, ovaries)


Usually caused by ascending infection, particularly chlamydia and gonorrhoea


Symptoms: bilateral lower abdo pain, deep dyspareunia, PV bleeding/discharge


Complications: infertility, ectopic pregnancy


Broad-spectrum ABX w/ contact tracing

Ovulatory causes of female infertility (x6)

HPG axis failure: anorexia, exercise/stress, PCOS


Ovarian dysfunction: Turner's, surgery


Menopause

Whooping cough: definition, stages, Tx

Droplet-spread Bordatella pertussis infection.


Stages: incubation; catarrhal (mucus); paroxysmal (long-lasting, severe characteristic cough); convalescent.


Tx with ABX. Most dangerous in neonates prior to possibility of immunisation.

Medium chain acyl co-A dehydrogenase deficiency: definition, management

Impaired β-oxidation and gluconeogenesis. Hypoglycaemia and hypoketonuria emerge in fasting/illness/intoxication - can be life threatening


Routine blood spot screening since 2008


Avoidance of fasting; genetic counselling

Screening for Down's syndrome: 4 tests

Combined test: nuchal translucency, β-hCG, PAPP-A


Quad: α-fetoprotein, oestradiol, β-hCG, inhibin-A


Integrated: combined + quad


CVS - genetic confirmation 11-14 weeks


Amnioscentesis - genetic confirmation 15-20 weeks. Lower miscarriage risk than CVS

Aetiology of Down's syndrome

95% trisomy 21 due to failure of anaphase (non-disjunction). Related to maternal age. May be mosaic.


Robertsonian translocation: long arms of 14:21 or 21:21 may be joined, preventing normal segregation. May be balanced, giving normal phenotype, but risk of offspring miscarriage, balanced translocation, or translocated DS.

Congenital parvovirus B19: effects

Foetal heart failure with hydrops fetalis (foetal oedema)


Foetal anaemia



Agpar score - components, 3 levels for each, when taken

Appearance (cyanosis/peripheral c./normal)


Pulse (absent/<100/>100)


Grimace (no response/some/normal)


Activity (none/some flexion/resists extension)


Respiration (none/weak, irregular/lusty cry)




1 minute after birth; 5 minutes after birth


subsequent 5 minute intervals if low

Sarnat grading in HIE -


components


3 levels for each


grading

Consciousness (coma/lethargic/hyperalert)


Tone (flaccid/hypotonic/normal or increased)


Seizures (uncommon/frequent/none)


Pupillary reflexes (fixed/small/reactive)


Respiration (apnoeic/periodic/regular)


Duration (weeks/<2 weeks/<24 hours)




graded 1 (mild) to 3 (severe)

Congenital syphillis - 4 effects

IUGR


fever/rash


hearing loss/blindness


Ophthalmia neonatorum

Major complications of Down's syndrome (x7)

AV/ventricular septal defects


Conductive/sensorineural hearing loss


Opthalmological disorders


GI atresia, fistulae, stenoses


Learning difficulties


Risk of AD


Increased risk of leukaemia (2' to transient neonatal myelodysplasia)

Failure to thrive: diagnosis, causes

Longitudinal measurement of BMI/weight for length, weight for age, height for age




Complications of IUGR, preterm, congenital anomaly


Lack of intake due to anaemia (fatigue), vomiting, cleft palate etc.


Lack absorption: coeliac, metabolism error etc


Metabolic demand: hyperthytoidism, malignancy etc.


Functional causes eg. abuse

Neonatal clinical screening tests (x5)

Ophthalmoscopy for congenital cataracts


Congenital heart disease


Congenital undescended testes


Bartow and Ortolani tests


Audiology exam

HRT: 3 pros, 3 cons

Pro: treats specific symptoms, reduces AD risk, reduces colon cancer risk




Con: TED/CAD risk, increases breast cancer risk transiently, side effects eg. menorrhagia

Menopause pathophysiology

Decline of follicle number with age


Reduction in ovarian oestradiol and inhibin production


Disinhibition of pituitary gonadotrophins


Reduced ovarian gonadotrophin sensitivity


Cessation of ovulation and ovarian oestrogen synthesis

Anatomical maternal hypotension

Due to compression of IVC by enlarged uterus, especially in supine position


Reason for increased VTE risk in pregnancy

Due to increase in hepatic expression of clotting factors, and increased platelet production

Neonate fontanelle signs


bulging


sunken


enlargement/failure to close

Bulging: meningitis, encephalitis, hydrocephalus


Sunken: dehydration, malnutrition


Enlargement/failure to close: Down's, hydrocephalus, intrauterine growth retardation

Absolute contraindications to breastfeeding


x3

Metabolic errors in newborn eg. galactosaemia


Maternal drug therapy eg. cytotoxics


HIV+ve mother

Ophthalmia neonatorum

Seen in intrapartum transmission of C. trachomatis and N. gonorrhoeae.


Conjunctivitis usually <2/52, particularly serious in gonorrhoea. Intrapartum transmission 40-50% in untreated women

Foetal distress syndrome


x2

Meconium-stained liquor


Heart-rate abnormalities by CTG including brady/tachycardia, reduced variability, decelerations

2' post-partum haemorrhage


time-frame


causes

24 hours to 6 weeks following delivery




Due to infection and/or retained products of conception

CNS complications of LBW


2x acute


3x long-term

Intraventricular haemorrhage


Periventricular leucomalacia


Long-term: cerebral palsy, cognitive/behavioural problems, visual/hearing impairments

Cyanotic vs. acyanotic heart defects

Cyanotic - right to left shunt, introducing deoxygenated blood into the systemic circulation. eg. conotruncal defects.




Acyanotic - left to right shunts, less severe. Eg. VSD, patent ductus arteriosus

Reason why vaccines not effective in neonatal period

Bound by maternal IgG received transplacentally and still in the system.

1' vs 2' amenorrhoea

2' is cessation of menstruation


1' is absence of menarche

Causes of amenorrhoea


x4


+conditions

Pregnancy/lactation


Rapid weight change/underweight


Psychogenic stress


Hormonal, cytotoxic drugs


Hyperprolactinaemia, hypothyroidism, Turner's syndrome

Lab screening tests for pregnant women


x6


+4 infectious

Assessment of weight, BMI, BP


Infections: HIV, Hepatitis B, syphilis, asymptomatic bacteriuria


Anaemia


Erythrocyte allo-antibodies


Rubella immunity status


Sickle-cell and thalassaemia


Down’s syndrome

Conditions of excess and causes x2


insufficient amniotic fluid and effects x2

Polyhydramnios - foetal swallowing defects eg. cleft palate, maternal cardiovascular disease




Oligohydramnios - causes foetal deformities, hypoplastic lungs in foetus

Menopause treatment

Bioidentical oestradiol (number of modes of administration)

Polycystic ovary syndrome symptoms (x4)

Anovulation


Oligomenorrhoea


Virilisation: hirsutism, alopecia, central obesity (+increased CV risk)


Acne

Polycystic ovary syndrome investigations x3

Hormonal screening for gonadotrophins, androgens


Laparoscopy/ultrasound for cysts


Tests for insulin resistance

Polycystic ovary syndrome treatment


x3

CoCP to control menstrual irregularity


Treatment of hyperinsulinaemia


Clomifeme to induce ovulation

Polycystic ovary syndrome diagnosis



2 of these 3:



>12 peripheral ovarian follicles or enlarged ovaries


Anovulation


Clinical/biochemical signs of hyperandrogenism


Tubal causes of infertility


x4

PID


Endometriosis


Fimbrial clubbing (scarring, reducing uptake of ovum from ovary)


Hydrosalpinx (oviduct inflamed and blocked with fluid)

Test for oviduct patency

Hysterosalpingography


X-ray of uterus and oviduct with contrast dye

Measures used for assessment of foetal development

(x3: inc. for 'head-sparing')

Estimated foetal weight (low in IUGR)


Abdominal circumference (low in IUGR)


Head circumference:abdominal circumference (raised in asymmetric IUGR)

Median, low, very low, extremely low birthweights




SGA criteria




Criteria for prematurity

Median - 3.5kg


low - <2.5kg


very low - <1.5kg


extremely low - <1kg




SGA: weight below 10th centile for gestation




Premature <37 weeks delivered

SGA causes x6

Normal small stature


Chromosomal disorders (eg. Edward's syndrome - trisomy 18)


Utero-placental insufficiency (asymmetric)


Congenital infection


Maternal risk-factors eg. smoking, chronic illness


Multiple pregnancy



Management of IUGR


x3

Corticosteroids to accelerate surfactant production


Monitoring with doppler USS for diastolic umbilical artery flow - may be absent or reversed)


C-section may be required

Risk factors for SIDS

Maternal: smoking, alcohol/substance abuse, STD, age <20 etc.


LBW


Sleep factors: overheating, prone/side position, old mattress, sleeping outside parents' room

Congenital adrenal hyperplasia:


Pathophys


Presentation in girls, in boys


Treatment



Recessive inherited 21-hydroxylase deficiency leading to aberrant steroidogenesis


Leads to excess androgen production and mineralocorticoid deficiency.


Virilisation in girls leads to early recognition


Boys go undiagnosed and may suffer vomiting, dehydration, collapse etc. in week 2


Tx with hormone replacement

HPV carcinogenesis

HPV 16 and 18


E6 inactivates p53


E7 inactivates RB

HPV vaccination


Name, who given to, vaccine type

Gardasil


Administered to 12-18 year old girls


HPV capsids spontaneously combine into virus-like particles

Cervical transformation zone


Reason for site of carcinogenesis

Region around cervical os where endocervical columnar epithelium migrates in puberty.


Undergoes hyperplasia due to acidic vaginal environment


Immature epithelial cells susceptible to HPV infection

Names for cervical cancer plus precancerous state

Cervical squamous carcinoma


Cervical intraepithelial neoplasia

Screening for cervical intraepithelial neoplasia


2 tests

Cervical brush sample, prepared in liquid-based cytology. Examined under microscopy for dyskaryosis




+biopsy for assessment of neoplasia

Neoplasia and dyskaryosis grading in cervical intraepithelial neoplasia




Management based on grading

Neoplasia: 1-3 according to level at which cytoplasmic maturation occurs


Dyskaryosis: mild/moderate/severe




first level of each: observation


2-3, moderate/severe: surgery

HPV carcinogenesis

Expresses:E6 -> binds to and inactivates p53 tumour suppressor




E7 -> binds to and inactivates retinoblastoma tumour suppressor

Risk factors for HPV infection


x5

Sexual history (number of partners, frequency of sex, sex history of male partners, early age of first intercourse)


Family history of CSC


Sex with men with penile carcinoma


Urban living


Cigarette smoking.

Normal and neoplastic cervical cytology


+grades


+method

Normal - low nuclear:cytoplasmic ratio


Neoplastic - high nuclear:cytoplasmic ratio, nuclear pleomorphism, hyperchromasia




Staged mild, moderate or severe according to degree of dyskaryosis


With cervical brush and liquid-based cytology (involving preservation and centrifugation)

Cervical intraepithelial neoplasia grading of biopsy

1-3, according to the level in the epithelium at which cytoplasmic maturation is taking place (begins basally)

Normal vs. neoplastic cervical biopsy

Normal: maturation of cells as they progress luminally (becoming more squamous)




Neoplastic: cells are hyperchromatic and pleomorphic and do not mature luminally

Anatomical origin of CIN and why

Cervical transformation zone


Due to migration of endocervical columnar cells to around external os in puberty


Acid environment leads to squamous hyperplasia


Naive hyperplastic cells vulnerable to HPV, which cannot infect mature endothelia

Treatment of CIN according to grade


+progression

Mild dysplasia, mild karyosis - observation10% progress to high-grade CIN




Moderate/severe dysplasia and karyosis - surgery


10% progress to cervical squamous carcinoma

CIN screening invitation intervals

Invited at 25, then 3-yearly until 50, then 5-yearly until 65

UK HPV vaccination


name


who offered to


vaccine type

Gardasil


12-18 year old girls


capsid proteins, spontaneously assembles into virus-like particles.