BRCA



ccording to NICE the first line tests for investigating suspected Addison's (adrenal insufficiency) arecortisol level and U&Es.The cortisol level should be taken at 8-9am. Caution needs to be applied to shift workers as they may have abnormal diurnal variation. When interpreting results:Cortisol level <100 nanomol/L. Admit/Urgent Refer endocrine as adrenal insufficiency likelyCortisol level 100 to 500 nanomol/L. Refer endocrine for Synacthen? testCortisol level is >500 nanomol/L. Addison's unlikely/excluded24 hour urinary cortisol and dexamethasone suppression tests are useful if trying to diagnose cortisol excess i.e. Cushing's Syndrome.?MRI may be appropriate at a later stage but isn't a first line investigation.?Addison's & Adrenal InsufficiencyAddison's BasicsAddison's disease or chronic adrenal insufficiency is a rare endocrine disorder where the adrenals produce insufficient steroid hormones.?The term Addison's refers to primary adrenal insufficiency i.e. the adrenals themselves are the source of low steroid hormone production. There are several causes of this autoimmune adrenalitis being the most common.Secondary and tertiary adrenal insufficiency refer to insufficient adrenal hormone production due to a cause external to the kidney i.e:Secondary adrenal insufficiency is due to deficient ACTH production by the pituitaryTertiary adrenal insufficiency is due to deficient CRH production by the hypothalamusSigns & SymptomsHypotensionHyperpigmentation (this is due to increased ATCH production)MyalgiaArthralgiaWeight lossAnxiety/personality changeComa in Addisons crisisBiochemical featuresHypercalcemiaHypoglycemiaHyponatremiaHyperkalemiaEosinophilia and lymphocytosisMetabolic acidosisImage sourced from?Wikipedian the general population 12% of women will develop breast cancer during their lifetime.The lifetime risk of developing breast cancer with BRCA 1 is 55-65% and BRCA 2 is 45%In the general population 1.3% of women will develop ovarian cancer during their lifetime.?The lifetime risk of developing ovarian cancer with BRCA 1 is 39% and BRCA 2 is 15%BRCABRCA 1Lifetime Breast Cancer Risk 60%Lifetime Ovarian Cancer Risk 40%BRCA 2Lifetime Breast Cancer Risk 45%Lifetime Ovarian Cancer Risk 15%Calcitonin is released from the thyroid C-cells in response to a raised serum calcium. Its actions are mostly antagonistic to PTH i.e.Inhibits calcium absorption by the intestinesInhibits osteoclast resorption of boneStimulates osteoblast activity in bone to sequester calciumInhibits renal tubule resorption of calcium. Increases urinary calcium excretionNote?calcitonin inhibits phosphate reabsorption in the kidney causing lowering of serum phosphate (PTH also lowers phosphate)Calcium MetabolismAfterpains may continue for 2-3 days (so none of the above).?Breastfeeding may intensify pain due to stimulation of Oxytocin which causes uterine contractionsChanges to the reproductive system following deliveryChromosomal abnormalitiesSerum MarkerDown'sEdwardsNotesPAPP A (pregnancy associated plasma protein A)ReducedReducedAlso reduced in IUGRAFP (alpha fetoprotein)ReducedReducedElevated in neural tube defects such as Spina Bifida & Multiple PregnancyUnconjugated Estriol (uE3)ReducedReducedInhibin AElevatedReducedbeta hCGElevatedReducedA summary of trisomy chromosomal abnormalitiesConditionChromosomal abnormalityFeaturesDown'sTrisomy 21Most common chromosomal abnormality in humans (1 in 1000 births)Basic Screening by Nuchal Thickness & PAPP-A and beta-hCG blood markersFrom 14 + 2 to 20 + 0 weeks gestation quadruple test can be usedScreening test determines risk and aids decision for amnio/CVSEdwards'Trisomy 18Affects 1 in 6000 live births90%+ detected on 18-20 week ultrasound fetal anomaly scanPoor prognosis. Median lifespan 5-15 daysPatau'sTrisomy 13Affects around 1 in 15,000 live birthsSimilar clinical features to Edwards' syndromeEarly amniocentesis (before 14 weeks of gestation) has a higher fetal loss rate and increased incidence of fetal talipes and respiratory morbidity compared with other procedures. RCOG guidelines advise amniocentesis should be performed after 15 weeks gestation.CVS offers rapid results and is suitable for karyotyping/genotype analysis for chromosomal abnormalities such as Down's and this is the most suitable option here. Waiting a few weeks and performing amniocentesis is a legitimate option but would delay diagnosis and ability to make decision on TOP. Amniocentesis would be the preferred method from 15 weeks onwards.Remember Conn's is a condition of raised Aldosterone (with subsequent effects on the aldosterone-renin-angiotensin system). Catecholamines and cortisol tests are not useful in diagnosing this.High aldosterone-to-renin ratio is useful in looking for Conn's (primary hyperaldosteronism) and would be an appropriate next test.The diagnosis is made via one of the following:Saline suppression testAmbulatory salt loading testFludrocortisone suppression testIf primary hyperaldosteronism is confirmed biochemically then adrenal CT or MRI is typically performed to find the cause.Conn's SyndromeConn's Syndrome results from primary hyperaldosteronism.?Aldosterone increases the reabsorption of sodium ions (and subsequently water) in exchange for potassium in the kidney. The result is increased blood volume and therefore increased blood pressure. Hypokalaemia may be present but is often within normal range.The main causes of primary hyperaldosteronism are adrenal hyperplasia (65%) and adrenal adenoma (30-35%). Note some texts refer to primary aldosteronism as Conn's. Strictly speaking Conn's is primary aldosteronism due to adrenal adenomaSecondary hyperaldosteronism is due to increased renin production in conditions such as renal artery stenosis or a renin producing tumour.Nondisjunction accounts for approximately 95% of Down Syndrome.88% is due to nondisjunction of the maternal gamete8% is due to the paternal gameteMitotic Nondisjunction after conception leads to mosaicism.?Translocation Down Syndromes account for 4.5% of Down SyndromesDown SyndromeRisk of Down Syndrome with Maternal Age1:1,500 at 20 years1:800 at 30 years1:270 at 35 years1:100 at 40 years>1:50 at 45 years and overEctopic PregnancyThere are about 11,800 ectopic pregnancies in the UK each year, with an ectopic pregnancy occurring in about 11 in 1000 pregnancies.?Mortality rates for ectopic pregnancy in the UK are 2 per 1000.?The majority of ectopics are tubal with non-tubal ectopics accounting for only 3-5% of ectopic pregnancies. The typical distribution is shown below.?Tubal 93-95%Interstitial 2-5%Cervical <1%Ovarian <1%Abdominal <1%Heterotopic <0.1%Tubal pregnancies can be further subdivided into:Ampullary section 70-80%Isthmus 12%Fimabrial 5-11%Cornual and interstitial part of the tube 2%The greentop guideline (No 36)?3g Benzylpenicillin should be administered as soon as possible after the onset of labour and 1.5g 4 hourly until delivery.Clindamycin 900mg should be administered to those women allergic tobenzylpenicillinAntibiotic prophylaxis for GBS is not required for women undergoing planned caesarean section in the absence of labour and with intact membranesInfections 2Tranexamic acid is a plasminogen-activator inhibitor. It inhibits the dissolution of thrombosis (and fibrin) that leads to menstrual flow. It can reduce flow by up to 50%.?Mefenamic acid works by inhibiting prostaglandin synthesis. It reduces menstrual loss by around 25% in three quarters of women and is better tolerated than tranexamic acid.?Activation of Antithrombin III and inactivation of factor Xa is the primary mechanism of action of Heparin.?MenorrhagiaPheochromocytoma is rare accounting for around 0.1% of cases of hypertension.?The rate of pheochromocytoma is quoted at around 1 in 54,000 pregnancies20% are familialPheochromocytomaTurners may be complete monosomy of the sex chromosomes where the karyotype is termed 45 X or show a mosaic pattern with variable penetration of cell types with the single X chromosome. Complete monosomy accounts for 50% of cases.?Turners syndrome is common in utero affecting 1-2% of all conceptuses however 99% of these will miscarry and only 1% will survive to term. Turners occurs in 1 in 2000 live births.?Short stature, dysmorphism including short fingers, pectus excavatum and webbed neck are features. As are cardiac abnormalities (coarctation aorta, bicuspid aortic valve, aortic aneurysms and more), urogenital abnormalities (horseshoes kidneys, double collecting system and more) and behavioural problems.Turner Syndrome 2Ovarian CystRCOG Greentop Guidline Number 62 states the following"Women with simple ovarian cysts of 50-70 mm in diameter should have yearly ultrasound follow-up and those with larger simple cysts should be considered for either further imaging (MRI) or surgical intervention""A serum CA-125 assay does not need to be undertaken in all premenopausal women when an ultrasonographic diagnosis of a simple ovarian cyst has been made"Vaginal cancer is uncommon and accounts for 1% of gynaecological malignancies. Most cases are associated with HPV.90% of vaginal cancers are squamous cell carcinoma.?Vaginal CancerThe risk of VTE in the general population is around 1 in 1000In factor V leiden heterozygotes it is around 4-8 in 1000In factor V leiden homozygotes it is around 80 in 1000RCOG guidelines advise she should be referred to a local specialistThrombophiliaThombophilia refers to a hyper-coaguable state that increases the risk of thrombosis. Causes can either be congenital or acquired. Congenital causes are typically classed as type I (deficient anticoagulation factors) or type 2 (excessive coagulation factors). Type 1 defects are typically more severe.ConditionKey PointsFactor V LeidenMost common congenital thrombophiliaMutated Clotting Factor V resists deactivationUp to 30% of patients with VTE have V leiden mutationAffects up to 5% of caucasiansType II defectProthrombin G20210A2nd most common thrombophiliaFound in 2-3% of CaucasiansType II defectAntithrombin deficiencyType 1 defectCan be acquired or inheritedProtein C deficiencyType 1 defectProtein S deficiencyType 1 defectAcquired CondtionsEg. Antiphospholipid sydrome, SLE2014 BASHH guidelines quote the risk of developing SCC (squamous cell carcinoma) from VIN as between 9% and 18.5%?Vulval DisordersLichen SclerosusSigns:Pale white atrophic areas.Purpura are commonFissuringErosionsNarrowed IntroitusHistological features:Epidermal atrophy (or thinning)Hydropic degeneration of the basal layer (sub-epidermal hyalinisation)Dermal inflammation.Lichen SimplexSigns:Lichenification (thickened pale scaly skin)Erosions and fissuring.ExcoriationHistological features:Epithial thickeningIncreased mitosis in basal and prikle layersVINSignsVariable appearanceLumps/bumps typically raised and may be white or pigementedHistological features:Epithelial nuclear atypiaLoss of surface differentiationIncreased mitosisIf you are asked in the exam about males with azoospermia the most likely diagnosis will be Klinefelter's syndrome. Klinefelter's is fairly common effecting around 1 in 500-1000 boys. It is due to trisomy of sex chromosomes with those affected having XXY karyotype.?For other causes of azoospermia such as cystic fibrosis, acquired azoospermia secondary to orchitis or vasectomy, idiopathic (obesity) the question history will be highly suggestive.?Also note at least some of the typical features of Klinefelters syndrome will be in the question stem:?Tall and thinReduced facial & pubic hairAtrophy of testesLow libidoGynaecomastiaLate pubertySometimes mild learning disability though most are of normal intelligenceMale FertilityThis is Acanthosis Nigricans (AN). It is hyper-pigmentation of the skin folds shown here effecting the neck crease. The axilla is another common site. There are several causes. Amongst others it may caused by Diabetes, Acromegaly, Cushing's, Addison's or malignancy. Conn's is not associated with ANHyper pigmentation of the face, sometimes referred to as the pregnancy mask is also termed chloasma or melasma gravidarumParaneoplastic SyndromesNeoplastic SyndromeAssociated CancersCushing'sSmall Cell lung cancerPancreatic cancerSIADHSmall Cell lung cancerBrain tumoursPolycythaemiaRenal cell cancerHepatocellular cancerAcanthosis NigransStomach cancerDermatomyositisOvarian cancerLung cancerPancreatic cancerGI cancerNon-Hodgekins LymphomaFactor V leiden is the most common congenital thrombophilia. Named after the Dutch city Leiden where it was first discovered.Protein C and S deficiencies are type 1 (Not type 2) thrombophiliasAntiphospholipid syndrome is an acquired (NOT congenital) thrombophiliaThrombophiliaThombophilia refers to a hyper-coaguable state that increases the risk of thrombosis. Causes can either be congenital or acquired. Congenital causes are typically classed as type I (deficient anticoagulation factors) or type 2 (excessive coagulation factors). Type 1 defects are typically more severe.ConditionKey PointsFactor V LeidenMost common congenital thrombophiliaMutated Clotting Factor V resists deactivationUp to 30% of patients with VTE have V leiden mutationAffects up to 5% of caucasiansType II defectProthrombin G20210A2nd most common thrombophiliaFound in 2-3% of CaucasiansType II defectAntithrombin deficiencyType 1 defectCan be acquired or inheritedProtein C deficiencyType 1 defectProtein S deficiencyType 1 defectAcquired CondtionsEg. Antiphospholipid sydrome, SLENICE guidance suggests an RMI of 250 or greater should prompt referral to a gynae-oncologist/MDT.The RCOG papers suggest a value of 200 should be treated as highly suspicious of malignancy.Ovarian CancerRisk of Malignancy IndexRMI = ultrasound score x menopausal score x CA-125 level in U/mlRMI 1RMI 2Ultrasound Featuresmultilocular cystSolid areasAscitesIntra-abdominal metsScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality3 = 2 or more abnormalitiesScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality4 = 2 or more abnormalitiesMenopause1 = Premenopausal3 = Postmenopausal1 = Premenopausal4 = PostmenopausalCa 125Value in U/mlValue in U/mlPKU effects 1 in 14,000 live births in the UKPhenylketonuriaKey FactsIt is an inborn error of amino acid metabolism (the most common in the UK) caused by absence or severe deficiency of phenylalanine hydroxylase enzyme (converts dietary phenylalanine to tyrosine).High concentrations of phenylalanine lead to increased levels of the by-products phenylpyruvic acid and phenylethylamine, which become neurotoxic in high concentrations. Untreated, this can result in mental retardation.Treatment is by dietary modification via restriction of dietary phenylalanine.Heel prick blood for Phenylalanine assay should be done > 12 hours after birthThere are 3 types of PKU:Type 1 PKU (autosomal recessive inheritanceType 2 PKUMalignant PKUThe following treatment regimes are recommended for the treatment of Chlamydia in Pregnancy:Erythromycin 500mg four times a day for 7 days orErythromycin 500 mg twice a day for 14 days orAmoxicillin 500 mg three times a day for 7 days orAzithromycin 1 gm stat (only if no alternative, safety in pregnancy not fully assessed)The following treatment regimes are recommended for the treatment of Chlamydia in NON-PREGNANT patients:Doxycycline 100mg bd for 7 days ORAzithromycin 1gm orally in a single doseNOTE:?Doxycyline and Oflaxacin are contraindicated in pregnancyChlamydiaAll of the above increase during pregnancy except platelet count which drops. Although platelet production is increased during pregnancy haemodilution results a reduced platelet count.Generally speaking clotting factors increase resulting in a hypercoaguable state. The exceptions to this are factors XI and XIII.?Coagulation and PregnancyChanges in blood composition during pregnancy:Platelet count reducedIncreased coagulation factorsIncreased fibrinogenIncreased ESRThis is Lichen Sclerosus.?It can effect women of all ages but is more common after menopause.Clinically there may be itching, soreness and dyspareunia. Examination may reveal a narrowed introitus, pale atrophic areas.Histological features on biopsy are:1. Epidermal atrophy (or thinning)2. Hydropic degeneration of the basal layer (sub-epidermal hyalinisation)3. Dermal inflammation.?Vulval DisordersLichen SclerosusSigns:Pale white atrophic areas.Purpura are commonFissuringErosionsNarrowed IntroitusHistological features:Epidermal atrophy (or thinning)Hydropic degeneration of the basal layer (sub-epidermal hyalinisation)Dermal inflammation.Lichen SimplexSigns:Lichenification (thickened pale scaly skin)Erosions and fissuring.ExcoriationHistological features:Epithial thickeningIncreased mitosis in basal and prikle layersVINSignsVariable appearanceLumps/bumps typically raised and may be white or pigementedHistological features:Epithelial nuclear atypiaLoss of surface differentiationIncreased mitosisThere are general histopathological features of ovarian tumours that are suspicious of malignancy such as irregular cell surface, irregular cystic regions, necrosis and haemorrhage.?There are 2 histological features specific to Serous and Mucinous tumour types that lend themselves well to exam questions (see below)!Serous tumours = Psammoma bodiesMucinous tumours = Mucin vacoulesOvarian CancerRisk of Malignancy IndexRMI = ultrasound score x menopausal score x CA-125 level in U/mlRMI 1RMI 2Ultrasound Featuresmultilocular cystSolid areasAscitesIntra-abdominal metsScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality3 = 2 or more abnormalitiesScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality4 = 2 or more abnormalitiesMenopause1 = Premenopausal3 = Postmenopausal1 = Premenopausal4 = PostmenopausalCa 125Value in U/mlValue in U/mlPlacenta AccretaRegarding abnormal placental invasion there are 3 forms (sometimes discussed together under the term Accreta):Accreta: chorionic villi attached to myometrium rather than decidua basalisIncreta: chorionic villi invade into the myometrium.Percreta: chorionic villi invade through the myometriumAccreta is the most common form accounting for around 76% of cases, Increta is 2nd most common with 17% of cases and Percreta 7% of cases.?Previous C-section is a risk factor with the risk rising with each c-section. Risk of placenta accreta was 3%, 11%, 40%, 61%, and 67% for the first, second, third, fourth, and fifth or greater repeat cesarean deliveries, respectively.?Placenta praevia is also a risk factor. Additional reported risk factors for placenta accreta include maternal age and multiparity, other prior uterine surgery, prior uterine curettage, uterine irradiation,endometrial ablation, Asherman syndrome, uterine leiomyomata, uterine anomalies, hypertensive disorders of pregnancy, and smoking.Image sourced from?WikipediaThere are several risk factors for gestational diabetes:Increasing ageCertain ethnic groups (Asian, African Americans, Hispanic/Latino Americans and Pima Indians)High BMI before pregnancy (three-fold risk for obese women compared to non-obese women)Smoking doubles the risk of GDMChange in weight between pregnancies - an inter-pregnancy gain of more than three units (of BMI) doubles the risk of GDMShort interval between pregnanciesPrevious unexplained stillbirthPrevious macrosomiaFamily history of type 2 diabetes or GDM - more relevant in nulliparous than parous womenHigh polyunsaturated fat intake has been shown in some studies to be protective against gestational diabetes. Physical activity is also thought to be effective.Gestational DiabetesMalignant primary ovarian tumours can be broadly classified into 3 types:1. Epithelial?2. Germ Cell3. Sex Cord and StromalEpithelial Ovarian Cancers (EOCs) are the most common type with high grade serous ovarian carcinomas the most common subtype. EOCs comprise:Serous (68%)Clear cell (13%)Endometrioid (9%)Mucinous (3%)5 year survival is 43%Lifetime risk is 1 in 70Germ cell tumours account for 1-2% of ovarian cancersSex Cord and stromal cancers are rare.?Ovarian CancerThere are general histopathological features of ovarian tumours that are suspicious of malignancy such as irregular cell surface, irregular cystic regions, necrosis and haemorrhage.?There are also 2 histological features specific to Serous and Mucinous tumour types that lend themselves well to exam questions (see below)!Serous tumours = Psammoma bodiesMucinous tumours = Mucin vacoulesRisk of Malignancy IndexRMI = ultrasound score x menopausal score x CA-125 level in U/mlRMI 1RMI 2Ultrasound Featuresmultilocular cystSolid areasAscitesIntra-abdominal metsScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality3 = 2 or more abnormalitiesScore/Number of ultrasound features0 = No abnormality1 = 1 abnormality4 = 2 or more abnormalitiesMenopause1 = Premenopausal3 = Postmenopausal1 = Premenopausal4 = PostmenopausalCa 125Value in U/mlValue in U/mlThis rash is Polymorphic eruption of pregnancy (PEP or PUPPP). It is a benign and typically self limiting condition so treatment is aimed at symptom relief. This can usually be achieved with emollients +/- topical steroids/antihistamines. In severe cases oral steroids can be considered. It is not directly associated with birth complications and generally has an excellent prognosis.?It is most common in women during their first pregnancy with recurrence rates in subsequent pregnancies around 7%.Associations include:Multiple gestation pregnanciesExcessive maternal weightRh-positive blood typePregnancy RashesNecrosisNecrosis TypeOrgan(s)/EnvironmentCoagulativeKidneyHeartAdrenalsHypoxicLiquefactive (colliquative)BrainFatPancreasGangrenousGI tractPeripheral limbCaseous (granulomatous)TB infectionHyaline degeneration is the most common form of fibroid degeneration except during pregnancy when red (carneous) degeneration is more common.?Hyaline degeneration accounts for 60% of casesFibroidsRisk Factors for FibroidsRisk FactorsBlack EthnicityObesityEarly PubertyIncreasing age (from puberty until menopause)Protective FactorsPregnancyIncreasing number of pregnanciesNote?Hormonal contraception has not been proven to have an effect on fibroid prevalence though evidence is conflicting3% of molar pregnancies are effected by hyperthyroidism. The cause is excessive HCGMolar Pregnancy & ChoriocarcinomaPartial molar pregnancy, complete molar pregnancy and Choriocarcinoma are often discussed together as Gestational trophoblastic disease (GTD)DefinitionsComplete Molar: Abnormal diploid conceptus with absence of foetus (typically 46XX)Partial Molar: Abnormal triploid conceptus that may have fetal tissue typically 69XXY)Choriocarcinoma: Malignant tumour of trophoblastStatistics1 in 1000 pregnancies per year are molar1 in 45,000 pregnancies effected by choriocarcinoma70% of choriocarcinoma occurs after molar pregnancy (20% after TOP & 10% after normal pregnancy)Classic Clinical FeaturesIrregular vaginal bleedingHyperemesisLarge for gestational age uterusEarly MiscarriageBiochemical FeaturesExcessive HCG productionIn 3% of cases excess HCG sufficient to trigger hyperthyroidismDiagnosisUltrasound assessmentFormal diagnosis is on histopathological assessment following evacuationIts important to read the question here and also be familiar with the different strategies for PDA closure in term and preterm infants.?In preterm infants closure can be achieved by NSAIDs typically indomethacin but ibuprofen could be used.?In term infants surgical closure is indicated. Prostaglandin infusion may be used in this situation but this is to keep the DA patent until surgery.?Ductus ArteriosusImage demonstrating the PDA in the Fetal CirculationImage sourced from?WikipediaHypercalcaemia effects 10-30% of cancer patients. The main mechanism is through osteoclastic bone resorption which can occur with or without bony mets.It is usually associated with disseminated disease and has a poor prognosis.?80% of patients with malignancy associated hypercalcaemia will die within 1 year.?Hypercalcaemiatable showing conditions causing hypercalcaemia and the typical biochemical findingsConditionAlkaline PhosphatasePhosphatePTHMyelomaNormal (unless fractures occur)Normal/HighNormal/High (high in renal failure)Calcium Alkali SyndromeNormalNormal/HighLowSarcoidosisNorma/HighNormal/HighLowHyperthyroidismNormal/HighNormal/HighLowHyperparathyroidismNormal/HighLowHighMalignancyHighNormal/LowVariableVitamin D ExcessLowHighLowThe partial mole is produced when an egg is fertilized by two sperm producing genotype 69 XXY (triploid). It can also occur when one sperm reduplicates itself yielding the genotypes 92 XXXY (tetraploid) though this is less commonThe genotype of a complete mole is typically 46 XX (diploid) but can also be 46 XY (diploid)Molar Pregnancy & ChoriocarcinomaPartial molar pregnancy, complete molar pregnancy and Choriocarcinoma are often discussed together as Gestational trophoblastic disease (GTD)DefinitionsComplete Molar: Abnormal diploid conceptus with absence of foetus (typically 46XX)Partial Molar: Abnormal triploid conceptus that may have fetal tissue typically 69XXY)Choriocarcinoma: Malignant tumour of trophoblastStatistics1 in 1000 pregnancies per year are molar1 in 45,000 pregnancies effected by choriocarcinoma70% of choriocarcinoma occurs after molar pregnancy (20% after TOP & 10% after normal pregnancy)Classic Clinical FeaturesIrregular vaginal bleedingHyperemesisLarge for gestational age uterusEarly MiscarriageBiochemical FeaturesExcessive HCG productionIn 3% of cases excess HCG sufficient to trigger hyperthyroidismDiagnosisUltrasound assessmentFormal diagnosis is on histopathological assessment following evacuationLower abdominal pain during menstrual periods and lower back or leg pain are associated with endometriosis in the uterosacral ligaments. Endometriosis can cause diarrhoea and IBS type symptoms.Note Endometriosis on the uterosacral ligament can cause tender nodules to form. These can be palpated during pelvic exam. Tender nodules are specific to endometriosis of the uterosacral ligament so if the question mentions feeling a tender nodule during PV exam think endometriosis of the Uterosacral ligaments!Endometriosisn the UK in 2013, the most commonly diagnosed STI was chlamydia with 208,755 new cases representing 47% of STI diagnoses in GUM clinics.?The under 25 age group has the highest rates with the 20-24 age subgroup the highest among them?ChlamydiaOvarian CystRCOG Greentop Guidline Number 62 states the following"Women with simple ovarian cysts of 50-70 mm in diameter should have yearly ultrasound follow-up and those with larger simple cysts should be considered for either further imaging (MRI) or surgical intervention""A serum CA-125 assay does not need to be undertaken in all premenopausal women when an ultrasonographic diagnosis of a simple ovarian cyst has been made"HPVGardasil? is a quadrivalent vaccine against HPV Types 6, 11, 16, and 18HPV types16 and 18 are responsible for 70% of cases of HPV related cancers.This is VIN.?Smoking is a risk factor. It is also more common in immunocompromised patients.?Vulval DisordersLichen SclerosusSigns:Pale white atrophic areas.Purpura are commonFissuringErosionsNarrowed IntroitusHistological features:Epidermal atrophy (or thinning)Hydropic degeneration of the basal layer (sub-epidermal hyalinisation)Dermal inflammation.Lichen SimplexSigns:Lichenification (thickened pale scaly skin)Erosions and fissuring.ExcoriationHistological features:Epithial thickeningIncreased mitosis in basal and prikle layersVINSignsVariable appearanceLumps/bumps typically raised and may be white or pigementedHistological features:Epithelial nuclear atypiaLoss of surface differentiationIncreased mitosisThese are the features of a complete molar pregnancy (see below)Ultrasound features of complete hydatidiform moleSolid collection of echoes with numerous small anechoic spaces (snowstorm or granular appearance).Bunch of grapes sign which represents swelling of trophoblastic villi.Normal interface between abnormal trophoblastic tissue and myometrium.No identifiable fetal tissue or gestational sac.Ultrasound Features of Partial Hydatidform moleEnlarged placenta with multiple diffuse anechoic lesionsFetus with severe structural abnormalities or growth restrictionOligohydramnios or deformed gestational sacMolar Pregnancy & ChoriocarcinomaPartial molar pregnancy, complete molar pregnancy and Choriocarcinoma are often discussed together as Gestational trophoblastic disease (GTD)DefinitionsComplete Molar: Abnormal diploid conceptus with absence of foetus (typically 46XX)Partial Molar: Abnormal triploid conceptus that may have fetal tissue typically 69XXY)Choriocarcinoma: Malignant tumour of trophoblastStatistics1 in 1000 pregnancies per year are molar1 in 45,000 pregnancies effected by choriocarcinoma70% of choriocarcinoma occurs after molar pregnancy (20% after TOP & 10% after normal pregnancy)Classic Clinical FeaturesIrregular vaginal bleedingHyperemesisLarge for gestational age uterusEarly MiscarriageBiochemical FeaturesExcessive HCG productionIn 3% of cases excess HCG sufficient to trigger hyperthyroidismDiagnosisUltrasound assessmentFormal diagnosis is on histopathological assessment following evacuationEndometrial tissue found within the myometrium is Adenomyosis. If endometrial tissue is found at a distant site to the uterus it is termed endometriosis.?Fibroids are smooth muscle tumours (Leiomyoma's) sometimes called myoma's.?EndometriosisEpidemiology of gestational diabetes is part of MRCOGs Module 9 syllabus. It effects 2-5% of pregnanciesGestational DiabetesRegarding VTE in pregnancy10-20% of VTEs are PE's. The majority are DVTInherited Thrombophilia is present in approximately 40% of women with pregnancy associated VTEObesity (BMI >30) increases DVT risk by 4 to 5 timesVTE in PregnancyImportant Stats about VTE in pregnancy10-20% of VTEs are PE's. The majority are DVTInherited Thrombophilia is present in approximately 40% of women with pregnancy associated VTERelative risk of VTE in pregnancy is increased 4 to 6 fold compared to non-pregnancyAbsolute risk of VTE in pregnancy and the puerperium is 1-2/1000 pregnanciesIncidence of Pulmonary Embolism in the UK is 1.3/10,000 maternitiesAbsolute Risk?is the risk of developing the disease over a time period. This can be expressed as a fraction or decimal. For example if you have a risk of VTE of 1/1000 pregnancies this may be expressed as 0.001Relative risk?is used to compare the risk in two different groups of people e.g. pregnant and non-pregnant women. If the risk of VTE in a healthy non-pregnant women is 2 per 10,000 vs 8-10 per 10,000 in pregnancy then the relative risk is 4 to 5 times (In large US studies figure works out at 4.3)?Note?Some sources such as SIGN quote relative risk of VTE in pregnancy as high as 10 fold that for non-pregnant patients. This is higher than the RCOG figure and may reflect the risk variation amongst those with other VTE risk factors e.g. age, smoking, obesity.?Diagram illustrating Risk Factor stratification for VTEImage sourced from?WikipediaSIADH is classically associated with small cell lung cancerParaneoplastic SyndromesNeoplastic SyndromeAssociated CancersCushing'sSmall Cell lung cancerPancreatic cancerSIADHSmall Cell lung cancerBrain tumoursPolycythaemiaRenal cell cancerHepatocellular cancerAcanthosis NigransStomach cancerDermatomyositisOvarian cancerLung cancerPancreatic cancerGI cancerNon-Hodgekins LymphomaThe oblique diameters of the inlet and outlet are the same i.e. they are both 12cm.?The transverse and AP diameters are opposites (outlet AP = 13 Transverse = 11. inlet AP = 11 Transverse = 13).Pelvic Outlet MeasurementsDimensionMeasured fromDistance(cm)AnteroposteriorCoccyx to Pubic Arch13ObliqueScarospinous ligaments obliquely forward12TransverseDistance between ischial spines11Figures are taken from the RCOG websiteImage sourced from?WikipediaPelvic AnatomyDiagram illustrating the pelvic brim (pelvic inlet)Image sourced from?WikipediaDiagram illustrating the pelvic outlet ................
................

In order to avoid copyright disputes, this page is only a partial summary.

Google Online Preview   Download