Questions Flashcards
Periductal onionskin fibrosis
PSC
Gietlmans
Na+Cl- channel leads to hypocalciuria, metabolic alkalosis, hypokalemia and hypomagnesaemia
Subclinical hyperthyroidism
Normal T4, low TSH
RET gene
Failure activation in utero = Hirschprungs
Failure of inactivation post-natally = MEN2
Tear drop polkilocytes
Myelofibrosis
Hereditary spherocytosis
Recurrent haemolysis, splenomegaly, raised reticulocytes and spherocytes on blood film.
Osmotic fragility test = diagnostic
Occupational asthma and IgE
Low molecule weight antigens often reactive chemical such as isocyanates, acids and paints.
High molecular weight antigens are usually organise products such as proteins or animal fur have specific IgE
Atypical nephrotic syndrome
Age <1 or >11 Elevated creatinine Macroscopic hematuria Hypertension Positive FH of nephrotic syndrome
Requires investigation with renal biopsy before treatment
Di George
Presents in many different ways so diagnosis can be difficult
Heart (Outflow tract) defects, hypocalcaemia, immunodeficiency
Velocardiofacial syndrome
Cleft palate/velopharyngeal insufficiency, heart defect, dysmorphic face
Nonspecific learning diffs/short stature
Increased tendency to psychiatric illness
Sarcoidosis and calcium
Hypercalcaemia occurs in sarcoidosis commonly due to increased intestinal calcium absorption due to high blood concentrations of 1,25-dihyodroxyvitamin D. This is due to the very large number of macrophages present in a granulomatous disease such as sarcoid which catalyse the production of activated vitamin D independent to PTH. It normally takes place in the kidney.
Brugada ECG and which channel
Sodium channel mutation; RBBB + coved ST elevation in leads V1–V3
CPVT
Calcium channel mutation; life threatening Ventricular Tachycardia (VT) or Ventricular Fibrillation (VF) during emotional or physical stress, bidirectional and polymorphic tachycardias
ARVT
Small positive deflection at end of QRS complex (epsilon waves)
Long QT
Potassium channel mutation; polymorphic ventricular tachycardia (torsades de pointes)
Broncholitis obliteratans
Bronchiolitis obliterans, also called obliterative bronchiolitis, and constrictive bronchiolitis,] is a rare and life-threatening form of non-reversible obstructive lung disease in which the bronchioles (small airway branches) are compressed and narrowed by fibrosis (scar tissue) and/or inflammation.
Inflammation and scarring occur in the airways of the lung, resulting in severe shortness of breath and dry cough.
Which cytogenetic method is unable to dectect balanced robertsonian translocations
Array-CGH. Detects gain or loss
Cirrhosis screening
Screen for oesophageal varices at diagnosis and every 2 years
Screen 6 monthly with USS and alpha-FP for HCC
Hypo echoic lesion discovery
<1cm = 4 monthly USS and aFP
> 1cm = CT or contrast MRI
Lung cancer >5cm
All tumour >5cm and >3nodes should be staged and should have CXR, US, Bone Scan!
Cutaneous paraneoplastic
Both conditions starts approximately the same time and follow a parallel course
a specific tumour occurs with a specific skin manifestation
the dermatosis is not common in the general population
a high percentage of association between the two conditions is noted
Presence of Cushings
24hr urinay free, late night salivary cortisol, low one dexamethasone
Finding the cause of Cushings
High dose dexamethasone suppression
Plasma ACTH
MRI head
CT chest and abdo
Haemolytic anaemia
High LDH due to cell destruction, high reticulocyte count as BM tries to replace lost RBC
Low haptoglobin - protein that binds free haemoglobin
Blood film = spherocytes
Differentiating between dermatomyositis and polymyositis on biopsy
Polymyositis infiltrate contains mainly CD8 + T cells and Dermatomyositis contains CD4 + T cells
Lysosomal storage disorders enzyme deficiency
Gaucher’s disease- Deficiency in beta-glucosidase/glucererosidase leads to accumulation of glucocerebroside in cells as unable to breakdown ganglioside/globoside
Niemann-Pick disease- Deficiency in sphyingomyelinase leads to inability to break down sphyingomyelin. Type A- neurological disorders, Type B-Organomegaly
Tay-Sachs disease- Deficiency in hexosaminisidase A leads to G2-ganglioside accumulation
Iron absorption
HCP1 is the receptor in which haem is absorbed into the enterocytes
DMT1 is the receptor for Fe2+
ferroportin is to export Fe2+ from cells to the circulation
FLVCR1 is to export haem from the cells to the circulation
Immunoassay microarray
HLA
Malignant vs non malignant ascites
In malignant ascites the treatment is usually paracentesis as sodium (and fluid) retention is not the cause. Therefore the diuretics would not be helpful.
In non-malignant ascites the first line treatment is salt and fluid restriction followed by a combination therapy of furosemide and spironolactone.
Hypomagnesemia and hypocalcemia
Very low magnesium blocks the PTH receptor preventing the ability of PTH to raise Ca2+ levels
Low magnesium stimulates the PTH receptor
Recombinant human growth hormone treatment is recommended for the treatment of adults only if:
They have severe GH deficiency, defined during an insulin tolerance test or a cross-validated GH threshold in an equivalent test.
They have a perceived impairment of quality of life (Sx include depression, reduced strength, reduced energy and abdominal fat)
They are already receiving treatment for any other pituitary hormone deficiencies
Short stature would not be modifiable in adults with recombinant GH due to growth plate fusion, it is a big indication in childhood GH deficiency.
T cell tolerance vs B cell tolerance
T-cell
central tolerance - @thymus - positive and negative selection
peripheral tolerance - @secondary lymphoid tissue - 4 mechanisms (suppression by Treg, deletion by Fas, anergy by absence of costimulatory signal, and immune privilege site for example eye.
B-cell
central tolerance - @bone marrow - 1. deletion (of high affinity or strong binding) antigen recognition - which also called negative selection but this happens in BM and not in thymus. 2. Receptor editing (to make it no longer self reactive)
peripheral tolerance - 1. with the help of helper T cells (as T cells underwent tolerance process earlier, so most of the cells now are ‘acceptable’ to the whole system. And as helper T cells help in the tolerance of B cells, the normal helper T cells will help development of normal B cells too. The two cells are interrelated!). 2. Anergy - downregulation of IgM
Pagets disease
Bone pain, deformity at extremities, seen in old age. Can = enlarged skull and deafness if compression of CNVIII
Can have cardiovascular, neurological and kidney stones
Progressive disease of excessive turnover. Excessive osteoclast activity with low osteoblast activity leads to deformed bones
High ALP, normal levels of PTH, Ca2+
Drug induced Pulmonary fibrosis
Amiodarone, bleomycin, methotrexate, amiodarone, nitrofurantoin, sulfazalazine
Indications for LTOT
Polycythemia, PaO2 <7.3, signs of RHF
Mx COPD
FEV1 >50% = LABA/LAMA
FEV1 <50% = LAMA / LABA + ICS
PC HUS
Renal failure, thrombocytopenia and micorangipoathic haemolytic anaemia
Medications that cause gum hypertrophy
Nifedipine, phenytoin, ciclosporin
Hyperprolactinemia
Prolactinoma, High TSH - hypothyroidism dopamine antagonist (dopamine inhibits prolactin)
Nelsons syndrome
Bilateral adrenalectomy leads to huge enlargement of pituitary (macro adenoma) due to increased ACTH.
PC headaches, tunnel vision
Response to desmopressin
Confirmed cranio DI
Synacthen test
Short = no increase in cortisol destruction of adrenal i.e. Addison Primary adrenal failure
Small or large increase in secondary. May need a long to confirm
Budd Chiari
Thrombosis in the hepatic vein. Triad of abdo pain, ascites and liver enlargement
1 - Polycythemia, COCP, pregnancy, coagulation disorders, SLE
2 - Extrinsic compression of hepatic vein - HCC
