Path PPQs + Enzymes Flashcards
Full name for ALP?
Alkaline phosphatase
Full name for ALT?
Alanine transaminase
Full name for AST?
Aspartate transaminase
Full name for GGT?
Gamma glutamyl transferase
What enzyme is deficient in Gilbert’s?
UDP-glucuronyl transferase
What is Richter’s transformation?
Transformation of CLL to diffuse large B cell lymphoma
bWhat do you measure in dermatomyositis with polyangitis?
Creatinine Kinase
What is the vegan Vit D supplement called?
Ergocholecalciferol (Vitamin D2)
What is the animal source of Vitamin D
Cholecalciferol (Vitamin D3)
Where is the enzyme 25-hydroxylase?
Liver
Inactive form of vitamin D?
25-hydroxyvitamin D
What enzymes activates vitamin D?
1 alpha hydroxylase
1 alpha hydroxylase can be produced by which disease?
Sarcoidosis
What is another name for 1,25 dihydroxy vitamin D?
Calcitriol (active form)
Features of osteomalacia?
Bone and muscle pain, Looser zones, increased fracture risk, Raised ALP, low calcium, low phosphate
What are Looser zone’s?
Pseudofractures
Features of rickets?
Bowed legs, chostochondral swelling, widening epiphysis at the wrists, myopathy
What drugs can cause rickets?
Anti-convulsants
How can ostemalacia occur in pregnancy?
Baby steals calcium
PTH stimualtes which bone cells?
Osteoclasts
Which bone cells produce alkaline phosphatase?
Osteoblasts
What is the effect of Cushing’s on vitamin D?
Vitamin D reduces and phosphate - leads to osteoporosis
What is the first feature of osteoporosis?
Fracture - often NOF or Colle’s fracture
Rash with amoxicillin is indicative of what?
EBV
Irritability = what disease?
meningitis
Gower’s sign positive?
Duchenne’s muscular dystrophy
Heart is boot shaped on CXR
Tetralogy of fallot (right to left shunt)
Port wine stain?
Sturge-Weber (epilepsy)
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - what condition?
Edward’s syndrome (trisomy 18)
Back arching is indicative of what?
Reflux
Peripheral pulses absent = which condition?
Coarctation of the aorta
West syndrome treatment?
- vigabatrin is now considered first-line therapy
- ACTH is also used
EEG and CT results of west syndrome?
EEG shows hypsarrhythmia in 2/3 of infants; CT shows diffuse/localised brain disease in 70% (e.g. tuberous sclerosis)
How is Vesicoureteric reflux diagnosed?
MCUG
Osgood-Schlatter disease is caused by what?
Inflammation of the tibial tuberosity
Chickenpox where does rash start?
Face/trunk. Fever first
Measles history and signs
Prodrome: irritable, conjunctivitis, fever
confluent rash
Koplik spots: white spots (‘grain of salt’) on buccal mucosa
Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
Roseola infantum cause and signs
- high fever: lasting a few days,followed laterby a
- maculopapular rash.
Caused b HHV6
Screening in Kawasaki disease
Echocardiogram
USS in NEC?
Shows target sign
Management of Hisrschprung’s disease
management:
1. bowel irrigation
2. surgery: ano-rectal pull-through
Sexual aggression + precocious puberty
sexual aggression = testotoxicosis
Small testes in precocious puberty =?
Adrenal hyperplasia
Diagnosis of whooping cough?
Per nasal swab.
Give erythromycin for 10 days
Wiskott-Aldrich syndrome
X-linked recessive
Sx: eczema, thrombocytopaenia, immune deficiency, bloody diarrhoea, petechiae
Cri du chat syndrome
Chr 5p deletion syndrome
Features:
- Characteristic cry due to larynx and neurological problems
- Feeding difficulties and poor weight gain
- Learning difficulties
- Microcephaly and micrognathism
- Hypertelorism
William’s syndrome
Features:
- Short stature
- Learning difficulties
- Friendly, extrovert personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
Pierre-Robin syndrome?
Features:
- Micrognathia - Posterior displacement of the tongue (may result in upper airway obstruction) - Cleft palate
Noonan syndrome?
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
Edward’s syndrome?
Trisomy 18
Features:
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers
Patau syndrome signs?
Trisomy 13
Features:
- Microcephalic, small eyes
- Cleft lip/palate
- Polydactyly
- Scalp lesions
Fragile X syndrome
Features in males:
- learning difficulties
- large low set ears, long thin face, high arched palate
- macro-orchidism
- hypotonia
- autism is more common
- mitral valve prolapse
Diagnosis
- can be made antenatally by chorionic villus sampling or amniocentesis
- analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
What syndrome is associated with diabetes?
Cystic fibrosis
Which cancer is associated with H.Pylori infection?
Gastric MALT lymphoma
What happens to the body of the stomach in a patient with pernicious anaemia?
Atrophy
Most common type of malignancy in the breast?
Invasive ductal carcinoma
A 2 year old has a palpable abdominal mass when his mother picks him up. What is the most likely cause?
Wilmm’s tumour
A lady has frank painless haematuria and a mass palpable on one side. What is the most likely cause?
Renal cell carinoma
Patient with hypoglycaemia and pancreas mass
Insulinoma
55yr old man with a painless mass in head of pancreas and jaundice
Adenocarcinoma
What is deposited in the kidneys in Multiple Myeloma?
AL Amyloid deposition
What material is seen in the vessel of a patient with an MI due to burst atheroma
Atheramatous plaque?
Patient presents with a craggy enlarged uneven prostate
Prostate adenocarcinoma
Patient with a cancer in their bladder following chronic schistosomiasis??
Young man, sudden severe pain in testicle following horse riding
Testicular torsion
Radiosensitive cancer of the testicle in a young man with a white/smooth appearance?
Seminoma??
Woman with recurrent episodes of weakness and paraesthesia that spontaneously resolve
TIA
Eczematous nipple rash caused by individual ‘malignant cells’?
Paget’s disease of the breast
Which cancer is associated with coeliac disease?
EATL
Which thyroid cancer most commonly metastasises to the lymph nodes?
Papillary
What virus increases risk of nasopharyngeal cancer?
EBV
An ovarian mass is found in a Japanese woman, and histology shows signet ring cells
Krukenberg tumour
What liver change occurs in diabetic patients
Non-alcoholic fatty liver disease (NAFLD)
Both mother and grandmother had medullary thyroid carcinoma and have tested positive for MEN2. What biomarker would be raised in the blood to confirm medullary thyroid cancer?
Calcitonin
A patient required an aortic valve replaced 3 months ago. They have now come back a few weeks later with jaundice, Hb-urea (haemoglobinuria), and raised reticulocytes. What is the cause?
MAHA???
Which disease do you see in both MEN1 and MEN2a?
Parathyroid hyperplasia
Insulinoma. What would you find?
low free fatty acids
What would you see on a duodenal biopsy of a patient with Coeliac disease?
Intraeplithelial lymphocytes
What causes hypertension in upper half of body?
Coarctation of the aorta
Which cancer is associated with asbestos?
Mesothelioma
A lady is found to have cancer, and investigations show it is a ‘transitional cell’ cancer. Where has it metastasised from?
Colon
Liver
Bladder
Breast
Bladder
Which lung cancer is most likely in a non-smoker?
Adenocarcinoma
What is the most likely cause of nephrotic syndrome in a child?
Minimal change disease
50 year old man with Midshaft femur fracture – what would you find at the site of the break/fracture (or rather, which/what type of cancer does he have)?
Neuroblastoma
Osteosarcoma
Ewing’s sarcoma
Chondrosarcoma
Adenocarcinoma
Chondrosarcoma
Woman with recurrent episodes of weakness and paraesthesia that spontaneously resolve -
TIA?
. HIV patient who desaturates on exercise?
Pneumocystis jirovecii
Girl receiving chemotherapy for leukaemia with ‘Halo’ sign on CXR
Aspergillus fumigatus
Lower lobe pneumonia in a 22 year-old who is coughing up rusty coloured sputum
Strep pneummoniae
Upper lobe cavitation on CXR in an alcoholic
Klebsiella pneummoniae
Smoker back from holiday in Spain, also hyponatraemic and confused
Legionella pneumophilia
HIV patient with CD4+ count of 150 with meningitis
Cryptococcus neoformans
Water polo player with itchy scaly rash on lateral toe which then moved along lateral side of foot
Tricophytum rubrum
Pityriasis versicolor
Malassezia furfur
Lady came back from visiting her sister in Arizona with systemic sx - fever etc:
Coccidioides
A South American man presents to a doctor in the UK with fever and bloody diarrhoea, and investigations detect a cyst in the right lobe of the liver
Entamoeba histolytica
A Nigerian man presenting with fever and chills, has just returned from Nigeria, did not take prophylaxis, and was bitten a lot
Malaria
A woman returning from travel in Asia presents with abdo pain, headache, and constipation. A Gram- rod is later cultured from her blood
Salmonella typhi
Snail trail oral ulcer in a homosexual man
Treponema pallidum
A soldier returning from Afghanistan has a small ulcer on right ring finger that won’t heal and keeps getting bigger
Leishmaniasis