General medicine key points PART 2 Flashcards
CCK does what
- inhibits H+ secretion from parietal cells
- gallbladder contraction
- relaxation of sphincter of Oddi
which is the only antibody that can transfer across the placenta?
IgG
Rhomberg’s test
- patient, eyes closed hands out stretched
- positive if patient becomes unsteady
immunoglobulin associated with atopy
IgE
A newborn male born at term is noted to become quickly cyanotic when feeding and crying. Feeding of the infant is further complicated by the presence of a cleft palate. On visual inspection, the boy appears to have a small head, a smooth philtrum, and epicanthic folds.
What syndrome?
DiGeorge syndrome
C - cardiac anomalies (ToF)
A - Abnormalities of face
T - thymus hypoplasia thus recurrent infections
C - cleft palate
H - hypoparathyroidism thus hypocalcaemia
22 - location of deletion
what is the main culprit causing lower respiratory tract infections in patients with cystic fibrosis?
pseudomonas aeruginosa
An 2-year-old male is referred to the clinician due to repeated seizures. He is noted to have had repeated infections. Examination of the chest reveals a heart murmur on the left sternal edge and he has abnormal facies. Blood tests reveal hypocalcaemia, hyperphosphataemia and low parathyroid hormone levels. He is diagnosed with the congenital condition known as ……
DiGeorge syndrome
The inflammatory reaction to the Mantoux test is an example of a delayed hypersensitivity reaction. Which immune mediator is this type of reaction usually associated with?
T cells.
A 58-year-old male presents to the GP with a gradual onset of diarrhoea and memory loss. On examination, he was found to have a dermatitis rash around his neck. A diagnosis of pellagra is made. Which vitamin deficiency is the cause of this condition?
B3 deficiency typically results in
the three D’s
- dementia
- dermatitis
- diarrhoea
A 25-year-old woman is brought into the emergency department. She presents with a painful stiff neck, photophobia, and an evolving non-blanching rash. On examination, she is found to be tachycardic and pyrexial. She is provisionally diagnosed with meningitis pending further investigations. What is the most likely causative organism?
Neisseria Meningitidis
6 years - 60 years age group are at risk from meninigitis caused by Neisseria meningitidis
0-3months: group B streptococcus in neonates
achrondroplasia key facts
- growth disorder causing dwarfism
- autosomal dominant
- homozygous achondroplasia usually fatal in utero
- caused by mutation in fibroblast growth factor (FGF) receptor
- thus unlikely to respond to growth hormone
the Mantoux test is an example of what type of hypersensitivity reaction
type 4 hypersensitivity
- tuberculin skin reaction
first sign of osteoarthritis
reduction of internal rotation of hip
Robertsonian translocation
- is a form of chromosomal rearrangement
- chromosomes break at their centromeres
- long arms fuse to form a single, large chromosome with a single centromere.
Penetrance
- proportion of individuals who carry disease causing allele
- who express the related disease phenotype
Which of the following best characterizes this patient’s condition?
A 31-year-old woman presents to her family physician complaining of pain in her wrist and fingers. She has been having the pain for the past month. The pain has failed to resolve with paracetamol. The woman also complains that she has noticed a reddening of the skin of her cheeks and feels warm as if she is having a fever. She feels that going in the sun makes the rash worse and has recently been applying sunscreen to see if that helps. The woman works as a teacher, does not have any significant past medical history and there is no family history of musculoskeletal problems. On examination the find that the lady has a heart rate of 81 beats per minute, respiratory rate of 13 breaths per minute and blood pressure of 143/88 mmHg. The doctor also notices that the facial rash is butterfly-shaped.
Type 3 hypersensitivity reaction.
- classic presentation of SLE
3 y/o male, always hungry, always craving food, significant weight gain, poor muscle tone and undeveloped genitals.
signs and symptoms are consistent with what diagnosis?
Prader-Willi syndrome
e.g. genetic imprinting
A 17-year-old lady with long standing anorexia nervosa is due to undergo excision of a lipoma. Which one of the following nutritional deficiencies is most likely to be implicated in poor collagen formation as the wound heals?
vitamin c needed for cross linkage of collagen and impaired wound healing.
thus deficiency of ascorbic acid.
A known alcohol dependent man presents to the emergency department with ophthalmoplegia, ataxia and confusion. He is given IV pabrinex to correct the likely vitamin deficiency which is causing his symptoms.
Wernicke’s korscoffs encephalopathy associated with…
- thiamine deficiency
- common cause is alcoholism
- acute neurological condition characterised by:
- ——> 1. nystagmus
- ——> 2. ataxia
- ——> 3. confusion
thiamine is important for ….
catabolism of sugars and amino acids
what cells are a sign of chronic inflammation and produce histamine
basophils
which cells are responsible for inducing apoptosis?
cytotoxic T cells
acute epiglottitis 3d’s symptoms
- dysphagia
- drooling
- distress
Charcot’s triad
- fever
- right upper quadrant pain
- jaundice
ureteric bud gives rise to
- ureter
- renal pelvis
- collecting duct
- calyces
type 5 hypersensitivity
Antibodies that recognise and bind to the cell surface receptors.
This either stimulating them or blocking ligand binding
Grave’s disease and myasthenia gravis
A 69-year-old male is present in the clinic and complains of sharp pains in his legs that feel like lightning. He tells you that he spent many years at sea. On examination, he has gait disturbance, weakness, and diminished reflexes. When a light is shined into his eyes, his pupils do not react, however, accommodation is intact. What is the most likely pathophysiology?
This clinical scenario describes tabes dorsalis.
This is a complication of syphilis, the neurological signs experienced are due to degeneration of the dorsal columns of the spinal cord.
The fact that this man was a sailor is suggestive that he has picked up a sexually transmitted infection.
demyelination of the dorsal columns of the spinal cord
degeneration of dorsal and lateral columns of the spinal cord is seen in…
b12 deficiency
would also present with features indicating loss of function of the spinothalamic tract.
viral infection of the anterior horn cells is seen in?
poliomyelitis
—–> which may give meningitis and paralysis
what characterises multiple sclerosis?
- autoimmune destruction of myelin in the central nervous system
what technique is used to profile gene expression levels of thousands of genes simultaneously to defect SNPs?
microarray
Transient Tachypnoea of the newborn (TTN)
- caused by a delay in the clearance of lung fluid
- commonly seen in C-section babies
- presents with tachypnoea post delivery
A 21-year-old man presents with dark coloured urine two hours after completing an ultra-marathon. A urine dipstick is positive for myoglobin, and the patient is diagnosed with…
Rhabdomyolysis
Schizophrenia
- delusions and auditory hallucinations presented for more than 6 months
- main neurotransmitter affected is dopamine
- main source of dopamine is the substantial migration pars compact and ventral tegmentum
describe differences between actions of PTH and calcitrol?
calcitriol
- active form of Vit. D
- increase in plasma phosphate by increasing osteoclast activity
- promoting its reabsorption in kidneys
PTH
- decreases plasma phosphate
A 36-year-old woman presents with a 3 week history of weakness worse at the end of the day. In particular she noticed difficulty getting out of her chair in the evening. Her husband has noticed that whilst driving at night she complains of difficulty keeping her eyes open, despite not being tired.
On examination you note a bilateral facial nerve weakness, complex ophthalmoplegia and symmetrical proximal power loss (MRC power 4/5). Upon repetitive stimulation of movements fatigability is noted.
What Gell and Coombs hypersensitivity class is she likely to be suffering from?
classic picture for myasthenia gravis
- proximal myopathy
- complex ophthalmoplegia
- fatiguability
thus Type 5 hypersensitivity
An autoimmune disease caused by antibodies to acetylcholine nicotinic postsynaptic receptors.
A 38-year-old male presents to general practice with fatigue following a recent holiday to Turkey. He also complains of dark urine and pale stools. On examination the patient is jaundiced. What is the incubation period of the virus most likely to be responsible for the symptoms in this patient?
hepatitis A
- fatigue
- fever
- nausea
- appetite loss
- jaundice
- dark urine
- diarrhoea
- abdominal discomfort
incubation period of 2-4 weeks
nonsense mutation
a mutation that results in a stop codon.
e.g. in CFTR gene
retinal deficiency
vitamin A is converted into retinal.
retinal is an important visual pigment
Which one of the following best describes the function of the p53 gene?
encodes proteins which regulate the cell cycle
what marker is found on all T cells and is used to quantify the total T cell count?
CD3
Allergic contact dermatitis is a …
type 4 delayed hypersensitivity
