MET EOYS2 Flashcards
A Ptx present with greater span than height & shorter 4th metacarpal. Which of the following is most likely
McCune-Albright Syndrome
Patau Syndrome
Kallman Syndrome
Turners Syndrome
A Ptx present with greater span than height & shorter 4th metacarpal. Which of the following is most likely
McCune-Albright Syndrome
Patau Syndrome
Kallman Syndrome
Turners Syndrome
McCune-Albright syndrome is caused by a mutation on which gene
Kal
GNAS
PIT1
GSP
McCune-Albright syndrome is caused by a mutation on which gene
Kal
GNAS
PIT1
GSP
Diabetic nephropathy causes the creation of which structures in the glomerulus? [1]
Kimmelstiel–Wilson nodules
What effect do SGLT-2 inhibitors have on afferent and efferent arterioles? [2]
Vasoconstriction at afferent arteriole
No effect at efferent (i think)
Which of the following has neuron development through the cribiform plate?
GnRH
TRH
CRH
ADH
Which of the following has neuron development through the cribiform plate?
GnRH
TRH
CRH
ADH
hypothalamic stimulating hormone that causes the release of GnRH
somatostatin
PIT1
kisspeptin
GPR54
hypothalamic stimulating hormone that causes the release of GnRH
somatostatin
PIT1
kisspeptin
GPR54
Name the hypothalamic stimulating hormone that causes the release of GnRH [1]
Kisspeptin
Explain oestrogen positive feedback of puberty cycle for LH / FSH
Gonad makes oestrogen, which has a positve effect on kisspeptin via GPR54 receptor
Kisspeptin neurones stimulate GnRH
GnRH stimulates gonadotrophs, which makes LH & FSH
Describe path of GnRH neurone formation
What two phenotypes that occur if this process occurs innappropiately [2]
GnRH neurones develop in the olfactory epithelium.
During embryonic development GnRH neurones migrate through cribiform plate, guided by Kal protein & migrate to the hypothalamus
(neurones migrate with cells responsible for smell but go to olfactory bulb not the hypothalamus)
Causes a lack of smell and hypogonadism
Describe pathphysiology of Kallman syndrome [3]
Mutation in Kal protein [1]
During embryonic development these cells can’t enter brain: doesnt take neurones to hypothalamus / olfactory bulb
Cross stalk between two sides of the brain is innappropriate (so cant do movements with one hand indivdually)
How would you test for Kallman syndrome? [2]
Have shorter 4th metacarpal:
Test by putting pencil between small finger and middle finger metacarpal:
- Normal person the pencil wont touch if placed there
- Does in Kallman syndrome
Also: have greater span than height
The anterior pituitary reqiures which transcription factors to develop? [1]
PIT1 [1]
What are developmental consequences of being deficient in PIT1? [2]
Hypothyroidism develops to create cretinism
Overall lacks TSH,GH and Prolactin
Label A-F
What type of receptor is GHRH receptor? [1]
Explain what happens when GHRH receptor is activated [2]
GPCR
Alpha subunit:
- cuts off a phosphate / hydrolises GTP to GDP which originally activated the alpha subunit (regulatory step: so that adenylyl cyclase isnt continually switched on
- activates adenylyl cyclase, which creates cAMP: second messenger to activte GH
Explain effect of gsp oncogene with regards to GHRH receptor and human pituitary tumours [1]
GSP oncogene:
Causes a mutant alpha subunit:
- cannot hydrolise GTP to GDP, which results with alpha subunit constantly activating adenylyl cyclase
Which syndrome is created by a mosaic mutation in GNAS gene? [1]
How do they present? [4]
McCune-Albright syndrome
(Cannot be inherited)
Syndrome has classic traid of:
* polyostotic fibrous dysplasia of bone
* precocious puberty
* café-au-lait skin pigmentation
* Acromegaly is seen in about 20% of patients with MA
What is the most common cause of ACTH-indepedent Cushing’s syndrome? [1]
Name two other causes
Exogenous glucocorticoid threapy (steroid therapy)
(e.g. long term inhaler use)
Can be due to adrenal hyperplasia or adrenal tumour
Explain two AEs of using loop diuretics? [3]
Hypokalemia: directly blocks K reabsorption through blockage of NaKCl2
Dehydration
Kidney stones: due to retained Ca in urine
Deafness
What are clinical uses of aldosterone inhibitors? [4]
Hyperaldosteronism (Conns)
Heart failure
Hypokalaemia (from other diuretics)
Cirrhosis
Explain MoA of SGLT-2 inhibitors
Normally SGLT2 allows Na AND glucose to be reabsorbed at PCT
Blocking SGLT2 causes more Na to be delivered to macula densa: here it causes glomerulus afferent arteriole constriction, which normalises GFR. Also causes glucose to be excreted in urine
How can you distinguish that cells are from the CD?
- prominent lateral borders of the epithelial cells
- Cytoplasm of collecting duct cells is relatively clear (i.e., not as intensely eosinophilic as that of proximal or distal tubules)
- and cell borders are usually distinct.
Describe pathophysiology of diabetic nephropathy
- Linked to high glucose
- Caused by thickening of basement membrane and matrix: causes stretching of podocytes and endothelial cells
- this creates Kimmelstiel–Wilson nodules
- creates micro-aneursyms: more likely to get blood plasma and albumin in the filtrate
- finally causes lipohyaline cap deposits and hyalinosis of afferent and efferent arterioles (concentric hyaline thickening of the cerebral small vessels)
- the chronic high level of glucose passing through the glomerulus causes scarring. This is called glomerulosclerosis
Describe pathophysiology of primary Glomerulonephritis
- What is it caused by? [2]
- What happens to structure of glomerulus? [3]
Glomerulonephritis is an umbrella term applied to conditions that cause inflammation of or around the glomerulus and nephron.
- Membranous glomerulonephritis characterised by thickening of glomerular basement membrane due to presence of subepithelial immune deposits
- can be caused autoimmune pathology: autoimmune disease systemic lupus erythematosus (SLE) and production of self antigen antibodies such as anti-phospholipase A2 antibodies being deposited in the kidney:
- The deposition of the immune complex at the glomerular membrane is responsible for the inflammatory reaction at the glomerulus
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy Proliferation and hypercellularity of the mesangium is seen in the glomerulus
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted in this histology slide?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy Staining of the lipohyaline caps with periodic acid Schiff stain. Note the subendothelial location of the deposits filling the capillary lumina.
Which pathology is depicted in this histology slide?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy - note the Kimmelstiel-Wilson nodules
Glomerulosclerosis
Which pathology is depicted in this histology slide ?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy - mesengial hypercellulairty
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using slide?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Which pathology is depicted using immunohistocomplex staining?
IgA nephropathy
Membranous change disease
DIabetic nephropathy
Glomerulosclerosis
Pretibial myxoedema inflammation over the tibia is caused by? [1]
Hyperthyroidism
Explain the symptoms of hyperthyroidism has on eyes [2]
experience dry, irritated and often teary eyes. This is usually due to the eyelids retracting and or protruding
Describe the effects of hyperthyroidism has on skin [2] and in the hands [1]
- Warm and moist - due to vasodilation + heat loss.
- ‘Plumber’s’ nails. Or soft and crumbling nails - acropachy
- Pretibial myxoedema inflammation over the tibia.
State the TSH and T3/T4 levels for:
Primary hyperthyroidism [2]
Secondary hyperthyroidism [2]
Primary hypothyroidism [2]
Primary hyperthyroidism: low TSH; high T3/T4
Secondary hyperthyroidism: high TSH & T3/T4
Primary hypothyroidism: high TSH; low T3/4
Explain why hair falls out in cases of hypothyroidism [1]
What colour does skin go because of this same cause? [1]
Accumulation of hyaluronic action -> yellowing.
Hair falls out and becomes thin.
A 17-year-old woman presents with a three-month history of eye redness and discomfort. She has been experiencing difficulty while driving due to vision changes. She also complained of fatigue, muscle weakness, heat intolerance, and weight loss. No significant medical history. Her blood pressure is 140/80 mmHg, her heart rate is 102/min, and the examination demonstrates warm moist skin, fine bilateral tremors, and bilateral exophthalmos with conjunctival injection. Which of the following is the best test to determine the underlying etiology?
A. Thyroid-stimulating hormone
B. Thyroid peroxidase levels
C. Thyroid-stimulating immunoglobulin levels
D. Free T4 (thyroxine)
C. Thyroid-stimulating immunoglobulin levels
The best test for diagnosing Graves disease is the measurement of thyroid antibodies: TSH receptor antibody (TRAb) or thyroid stimulating immunoglobulin (TSI) levels. These tests have very high sensitivity (>96%) and specificity (>99%) for diagnosing Graves disease.
Which HLA is associated with Grave’s disease? [1]
HLA B27
Which of the following would you use to diagnose a toxic adenoma ?
Propylthiouracil
Levothyroxine
Iodine 131
Carbimazole
Iodine 123
Which of the following would you use to diagnose a toxic adenoma ?
Propylthiouracil
Levothyroxine
Iodine 131 - used to treat
Carbimazole
Iodine 123
Which of the following occurs in graves disease
Increased insulin turnover; increased gluconeogenesis; increased insulin secretion
Increased insulin turnover; decreased gluconeogenesis; increased insulin secretion
Decreased insulin turnover; decreased gluconeogenesis; increased insulin secretion
Increased insulin turnover; increased gluconeogenesis; decreased insulin secretion
Which of the following occurs in graves disease
Increased insulin turnover; increased gluconeogenesis; increased insulin secretion
Increased insulin turnover; decreased gluconeogenesis; increased insulin secretion
Decreased insulin turnover; decreased gluconeogenesis; increased insulin secretion
Increased insulin turnover; increased gluconeogenesis; decreased insulin secretion
Which of the following can Graves Disease lead to?
Osteoarthritis
Osteomalacia
Osteoporosis
Pagets Disease
Which of the following can Graves Disease lead to?
Osteoarthritis
Osteomalacia
Osteoporosis
Pagets Disease
Which of the following types of anaemia is associated with Graves Disease?
IDA
B12 deficiency
Thalassemia
Haemolytic
Which of the following types of anaemia is associated with Graves Disease?
IDA
B12 deficiency / pernicious
Thalassemia
Haemolytic
Explain mech. of portal htn causing ascites
Why does jaundice occur if gall stone occurs in common bile duct?
Stone blocks bile leaving the gall bladder and the Liver.
So bilirubin in bile is not able to be broken down
accumulates in blood causing jaundice and biliary colic.
Label A-F
A: splenic artery
B: gastroduodenal artery
C: hepatic artery proper
D: SMA
E: SMV
F: Hepatic portal vein
What is the chemical name for active form of thyroid hormone?
What is the chemical name for inactive form of thyroid hormone?
Liothyronine (T3)
Thyroxine (T4)
How is T3 transported around the body? [3]
Predominately via Thyroid Binding Globulin
Also by albumin and transthyretin
Hyperthyroidism
Effect on GI tract? [4]
Effect on bones? [3]
Haematological effect [2]
Effect on reproductive system [3]
Hyperthyroidism
Effect on GI tract? [4]
* Increased appetite
* Weight loss
* Increased gut motility
* Increased liver enzymes - transaminitis.
Effect on bones? [3]
* * Accelerated osteoclast activity - to provide substrates for metabolism.
* Hypercalcemia
* Osteoporosis - in the long term.
Haematological effect [2]
* Pernicious anaemia - coincidental, autoimmune.
* B12 deficiency
Effect on reproductive system [2]
* Periods stop (oligomenorrhoea)
* Gynecomastia (man boobs)
* Erectile dysfunction.
What are 3 risk factors for graves disease? [3]
HLA status - TH17 led autoimmune response
Trigger: infection, neck trauma, stress
Female stress - 1-2% of women. Because connected to X- chromosome.
What causes Toxic Multinodular Goitre? [1]
Somatic TSHR mutation: Thyroid always on
Hypothyroidism effects on:
Skin [2]
CV [4]
GI tract [3]
Skin [1]
* myxoedema
* Accumulation of hyaluronic action -> yellowing. Hair falls our and becomes thin.
CV [4]
* Stroke volume reduces
* Cold/reduced circulation
* Sinus bradykinin.
* J-waves on ECG due to hypothermia.
* LDL cholesterol rises.
GI tract [3]
* Reduced appetite
* Constipation
* Weight increases (fat - due to reduced metabolic rate - and fluid retention).
What causes cretinism?
Large goitres:
Low levels iodine in diet + low levels of iodine produced in thyroid -> increasing TSH production -> stimulates growth of thyroid gland
Causes mental retardation
Diagnosis [2] and Treatment of HypoT? [1]
Diagnosis of hypothyroidism:
* High levels of TSH and low T4 in blood - biochemistry tests
Treatment:
* Levothyroxine - only treatment used In UK
[] is the first line anti-thyroid drug
[] is the second line anti-thyroid drug.
Carbimazole is the first line anti-thyroid drug
Propylthiouracil is the second line anti-thyroid drug.
Label A-F
A: IVC
B: Cystic duct
C: Cystic artery
D: Ligamentum teres
E: Ligamentum venosum
Label A & B [2]
A: Quadrate lobe
B: Caudate lobe
