Block 1 Flashcards
1
Q
Case-control study
A
Compares a group with a disease to a group without, looking at past exposure to a possible causal agent for the condition
2
Q
Observational and prospective. Two (or more) are selected according to their exposure to a particular agent (e.g. medicine, toxin) and followed up to see how many develop a disease or other outcome.
The usual outcome measure is RR
Examples include Framingham Heart Study
A
Cohort Study
3
Q
Observational and retrospective. Patients with a particular condition (cases) are identified and matched with controls. Data is then collected on past exposure to a possible causal agent for the condition.
The usual outcome measure is the odds ratio.
Inexpensive, produce quick results
Useful for studying rare conditions
Prone to confounding
A
Case-control study
4
Q
Provide a ‘snapshot’, sometimes called prevalence studies
Provide weak evidence of cause and effect
A
Cross-sectional survey
5
Q
A 25-year-old woman presents with recurrent attacks of ‘dizziness’. These attacks typically last around 30-60 minutes and occur every few days or so. During an attack ‘the room seems to be spinning’ and the patient often feels sick. These episodes are often accompanied by a ‘roaring’ sensation in the left ear. Otoscopy is normal but Weber’s test localises to the right ear. What is the most likely diagnosis?
Acoustic neuroma
Vestibular neuritis
Benign paroxysmal positional vertigo
Multiple sclerosis
Meniere’s disease
A
There is a suggestion of SNHL in the left ear as Weber’s localises to the right.
Along with transient vertigo and aural fullness Meniere’s is the most likely diagnosis
6
Q
recurrent episodes of vertigo, tinnitus and hearing loss (sensorineural). Vertigo is usually the prominent symptom
a sensation of aural fullness or pressure is now recognised as being common
other features include nystagmus and a positive Romberg test
episodes last minutes to hours
typically symptoms are unilateral but bilateral symptoms may develop after a number of years
A
Menier’es disease
7
Q
Natural Hx of Meniere’s
A
Symptoms resolve in the majority after 5-10 years.
Majority of patients will be left with a degree of hearing loss.
8
Q
Mx of acute attacks of Meniere’s?
A
Buccal or IM prochlorperazine
9
Q
Prevention of attacks in Meniere;s?
A
Betahistine
Vestibular rehabilitation exercises
10
Q
Which part of the jugular venous waveform is associated with the opening of the tricuspid valve?
x descent
v wave
a wave
c wave
y descent
A
JVP: y descent = opening of tricuspid valve
11
Q
a-wave of JVP
A
Atrial contraction
Large if raised atrial pressure e.g. TS or PS
Absent if in AF
12
Q
Cannon a-waves
A
Caused by atrial contractions against a closed tricuspid valve
May be sene in complete heart block, VT/ectopics, nodal rhythmn, single chamber ventricular pacing
13
Q
c-wave
A
Closure of the tricuspid valve
Not normally visible
14
Q
V wave
A
Due to passive filling of blood into the atrium against a closed tricuspid valve
Giant v waves in TR
15
Q
x-descent
A
Fall in atrial pressure during ventricular systole
16
Q
y-descent
A
Opening of tricuspid valve
17
Q
Each one of the following is associated with ataxic telangiectasia, except:
Telangiectasia
Cerebellar ataxia
Autosomal dominant inheritance
Recurrent chest infections
Increased risk of malignancy
A
AD inheritance
It is an autosomal recessive disorder
18
Q
Pathology of ataxic telangiectasis
A
AR disorder caused by a defect in the ATM gene which encodes for a DNA repair enzym.e
It is one of the inherited combined immunodeficiency disorders, typically presenting in early childhood with abnormal movements.
19
Q
Features of ataxic telangiectasis?
A
Cerebellar ataxia
Telangiectasis
IgA deficiency-> recurrent chest infections
10% risk of malignancy- lymphoma, leukaemia and non-lymphoid tumours
Onset 1-5years
20
Q
Features of Friedrich’s ataxia?
A
Trinucleotide repeat disorder (but no anticipation)
Kyphoscoliosis
Optic atrophy
HOCM
DM
Onset 10-15 years
21
Q
Which one of the following causes of primary immunodeficiency is a T-cell disorder?
Chediak-Higashi syndrome
Chronic granulomatous disease
Common variable immunodeficiency
DiGeorge syndrome
Wiskott-Aldrich syndrome
A
DiGeorge syndrome is a primary immunodeficiency disorder caused by T-cell deficiency and dysfunction. It is an example of a microdeletion syndrome. Patients are consequently at increased risk of viral and fungal infections.
22
Q
Parthology of Di George
A
Primary immunodeficiency disorder caused by T-cell deficiency and dysfunction due to microdeletion of 22q11.2.
23
Q
Clinical features of Di Geoge syndrome
CATCH 22
A
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcaemia/hypoparathyroidism
22 chromosome microdeletion
24
Q
A 33-year-old Indian man presented with a 5-day history of fevers, vomiting and dizziness. He had recently come back from a trip to Kerala and had been treated with a two-week course of clarithromycin for a bout of prolonged severe sinusitis by his GP. This was due to the fact that he had been suffering from severe frontal headaches, difficulty sleeping and periorbital swelling. He has a background of tuberculosis (TB) and is currently on treatment with rifampicin and isoniazid.
On examination, there was some slurring dysarthria and mild coarse nystagmus to the left. His observation shows a temperate of 38.3ºC, pulse 93 beats per minute, blood pressure 120/80mmHg and oxygen saturation 93% on room air.
What is the most likely diagnosis?
TB meningitis
Cerebellar metastases
Cerebellar haemorrhage
Cerebellar abscess
Chronic sinusitis
A
Cerebellar abscesses are most commonly caused by otogenic diseases like mastoiditis and sinusitis infections
Brain abscesses are focal areas of intracerebral pus collection which occur due to a number of causes. In particular, cerebellar abscesses most commonly occur due to infections such as mastoiditis and sinusitis infections.
Cerebellar haemorrhage is a more acute vascular event which would have a quicker onset and likely present with stronger neurological signs with sudden onset headache, dizziness, vomiting, vertigo, truncal ataxia and impairment of consciousness.
Chronic sinusitis is referred to when the cavities around nasal passages - known as sinuses - remain inflamed and swollen for at least 12 weeks, in spite of various treatment attempts.
TB meningitis would present with fever and chills, neck stiffness, photophobia associated with mental changes.
Cerebellar metastases would present with headaches (the most common symptom of brain metastases), nausea, vomiting, difficulty walking, seizures with speech disturbance.
25
A 49-year-old female is referred to the gastroenterology out-patient clinic with a 3 month history of epigastric pain and diarrhoea. Her GP initially prescribed lansoprazole 30mg od but this didn't alleviate her symptoms. The only past medical history of note is hyperparathyroidism.
Endoscopy revealed multiple duodenal ulcerations. What is the likely diagnosis?
Multiple endocrine neoplasia type II a
Coeliac disease
Multiple endocrine neoplasia type I
Autoimmune polyendocrinopathy syndrome
Crohn's disease
Zollinger-Ellison syndrome typically presents with multiple gastroduodenal ulcers causing abdominal pain and diarrhoea. High-dose proton pump inhibitors are needed to control the symptoms. Around a third of patients may have multiple endocrine neoplasia type I (MEN-I), explaining the hyperparathyroidism in this patient.
MEN-I
parathyroid (95%): hyperparathyroidism due to parathyroid hyperplasia
pituitary (70%)
pancreas (50%, e.g. Insulinoma, gastrinoma)
also: adrenal and thyroid
26
Diagnosis of ZE syndrome
Fasting gastrin levels
Secretin stimulation test
27
What is the underlying problem in methaemoglobinaemia?
The oxidation of Fe2+ in haemoglobin to Fe3+
The reduction of Fe2+ in haemoglobin to Fe+
The oxidation of Fe3+ in haemoglobin to Fe2+
The reduction of Fe2+ in haemoglobin to Fe3+
The reduction of Fe3+ in haemoglobin to Fe2+
Methaemoglobinaemia = oxidation of Fe2+ in haemoglobin to Fe3+
28
Methaemoglobinaemia
Describes Hb which has been oxidised from Fe2+ to Fe3+.
This is normally regulated by NADH methaemoglobin reductase which transfers electrons from NADH to methaemoglobin.
In methemoglobinaemia there is tissue hypoxia as Fe3+ cannot bind oxygen, moving the oxidation dissociation curve to the left.
29
Causes of methaemoglobinaemia
Congenital:
Hb chain variants- HbM, HbH
NADH methaemoglobin reductase deficiency
Acquired:
Drugs- sulphonamides, nitrates, dapsone, sodium nitroprusside, primaquine
Aniline dyes
30
Chocolate cyanosis
Dyspnoea, anxiety, headache
Severe: acidosis, arrhythmias, seizures, coma.
Normal pO2 but decreased O2 saturation
?Methaemoglobinaemia
31
Mx of methaemoglobinaemia
NADH-methaemoglobinaemia reductase deficiency- ascorbic acid
IV methylthionium chloride (methylene blue) if acquired.
32
An 18-year-old male is admitted to hospital for haemoptysis. He mentioned that his urine has recently become brown in colour. On examination, his blood pressure is noted to be 170/110. A kidney biopsy is stained positive for autoantibodies confirming a diagnosis of Goodpasture's syndrome. Which type of collagen does this patient produce autoantibodies against?
Collagen type 1
Collagen type 2
Collagen type 3
Collagen type 4
Collagen type 5
Collagen IV is defective in Goodpasture's syndrome.
Ehlers-Danlos syndrome is primarily caused by a genetic defect in collagen type III. Collagen Type V is also affected in a less common variant of Ehlers-Danlos syndrome. Collagen type I is defective in osteogenesis imperfecta.
33
Collagen 1 deficiency
Osteogenesis imperfecta
34
Associations of collagen IV defect
Alport
Goodpasture's
35
Collagen V abnormality
Classical Ehlers-Danlos
36
Structure of Collagen Type 1
3 polypeptides in an alpha helix.
Numerous H bonds
Collagen 1 most common subtype (90%)
VItamin C involved in establishing cross links
Synthesised by fibroblasts
37
A middle aged man presents with pyrexia and cough. Chest X ray demonstrates a left lower lobe pneumonia. He is seen in the emergency department with a blood pressure of 83/60mmHg and a heart rate of 112/min. He is prescribed broad spectrum antibiotics and intravenous fluid.
Which of the following best describes the mechanism of the bodies response to a decrease in blood pressure?
Decreased heart rate and vasoconstriction
Decreased epithelial sodium channels in distal convoluted tubule
Increased bradykinin
Insertion of AQP-2 channels in collecting ducts
Insertion of AQP-2 channels in thick ascending loop of Henle
In response to low blood pressure, there are a variety of physiological responses. Including the renin-angiotensin aldosterone system (RAAS). Bradykinin is a potent vasodilator which is broken down by angiotensin-converting enzyme (ACE).
RAAS activation leads to increased aldosterone which leads to increased epithelial sodium channels (ENAC) to increase sodium reabsorption.
Another response to low blood pressure is increased anti-diuretic hormone with increases insertion of AQP-2 channels in the collecting duct to increase water reabsorptio
38
Which one of the following is least likely to cause a raised protein level in the cerebrospinal fluid?
Tuberculous meningitis
Guillain-Barre syndrome
Fungal meningitis
Froin's syndrome
Systemic lupus erythematous
SLE
The following conditions are associated with raised protein levels
Guillain-Barre syndrome
tuberculous, fungal and bacterial meningitis
Froin's syndrome\*
viral encephalitis
\*describes an increase in CSF protein below a spinal canal blockage (e.g. tumour, disc, infection
39
A 37-year-old female patient is brought into the emergency department with a 5-day history of altered personality, visual and auditory hallucinations. On palpation of the abdomen, a mass is felt in the left iliac fossa. Ultrasound abdomen suggests a left ovarian tumour. Her basic observations are as follows:
Oxygen saturation99% on air
Heart rate98 beats/minute
Respiratory rate28 breaths/minute
Temperature37.9 °C
What is the most likely diagnosis?
Meningitis
Anti-NMDA receptor encephalitis
Rabies
Japanese encephalitis
Mania
Anti-NMDA receptor encephalitis is a paraneoplastic syndrome which presents with prominent psychiatric features. In this case, it is likely caused by an ovarian tumour.
Meningitis does not usually present with prominent psychiatric features
Rabies can present with psychiatric symptoms, but it usually presents with hypersalivation of hydrophobia which is not the feature here.
Japanese encephalitis is less likely with no clear travel history given and does not usually present with such prominent psychiatric symptoms.
The patient presents with symptoms of psychosis but no suggestion of mood disturbance hence mania is unlikely. Given the finding of an ovarian tumour and abnormality in her vital signs, an organic illness needs to be ruled out before psychiatric illness can be diagnosed.
40
Which one of the following is least recognised as a cause of autonomic neuropathy
Guillain-Barre syndrome
New variant CJD
Diabetes
Parkinson's
HIV
New vCJD
41
Clinical features of autonomic neuropathy?
Impotence, inability to sweat, postural hypotension (drop of 30/15)
Loss of decrease n heart rate following deep breathing.
Dilatation of pupils following adrenaline instillation
42
Causes of autonomic neuropathy
DM
GBS
MSA
PD
Infections: HIV, Chaga's, Shy-Drager
Antihypertensive, TCAs
Craniopharyngioma
43
Which of the following drugs is least likely to cause peripheral neuropathy?
Amiodarone
Vincristine
Trimethoprim
Isoniazid
Nitrofurantoin
Trimethoprim is not listed in the BNF as causing peripheral neuropathy
44
List drugs causing a peripheral neuropathy
Drugs causing a peripheral neuropathy
amiodarone
isoniazid
vincristine
nitrofurantoin
metronidazole
45
A 49-year-old man presents to the Emergency Department complaining of visual disturbance. Examination reveals a right incongruous homonymous hemianopia. Where is the lesion most likely to be?
Left optic tract
Left optic radiation
Right optic tract
Right optic radiation
Optic chiasm
Left optic tract
46
What is a congruous visual field defect?
Means compete or symmetrical visual filed loss.
An incongruous defect is incomplete or asymmetric
47
A man is recovering after having an operation to remove a meningioma in his left temporal lobe. What sort of visual field defect is he at risk of having following the procedure?
Visual field defects:
left homonymous hemianopia means visual field defect to the left, i.e. lesion of right optic tract
homonymous quadrantanopias: PITS (Parietal-Inferior, Temporal-Superior)
incongruous defects = optic tract lesion; congruous defects= optic radiation lesion or occipital cortex
48
Which one of the following statements regarding absence seizures is incorrect?
Typical age of onset of 3-10 years old
Sodium valproate and ethosuximide are first-line treatments
Seizures may be provoked by a child holding their breath
There is a good prognosis
Characteristic EEG changes are seen
Seizures are characteristically provoked by hyperventilation
49
Mx of absence seizures
VPA and ethosuximide are the first line
50
A 32-year-old woman is brought into the emergency department by ambulance with following an episode in of vertigo, diplopia and dysarthria, after which she became drowsy and responsive to pain only. Her symptoms came on over ten minutes and lasted for approximately one hour. Her initial symptoms have now fully resolved, but she feels nauseous. Neurological examination is unremarkable. She has a past medical history of migraine. She takes the progesterone-only contraceptive pill, but no other medications.
What is the most likely diagnosis?
Focal aware seizure
Focal impaired awareness seizure
Migraine with brainstem aura
Transient ischaemic attack
Multiple sclerosis
Migraine is common, with a prevalence of approximately 10% of the population. Therefore, even rare presentation of migraine may occur more commonly than common presentations of rarer conditions. This is migraine with brainstem aura (basilar-type migraine, or Bickerstaff's Syndrome). The gradual onset over ten minutes, and step-wise progression of symptoms point more towards migraine than an ischaemic event. A reminder that it is possible for migraine aura to occur without the subsequent headache, as in this case. New-onset seizures would be less likely than an atypical presentation of known migraine. Multiple sclerosis would not present like this.
51
Clinical featuers of migraine
Primary headache
Characterised by a severe unilateral, throbbing headache
Associated with nausea, photophobia and phonophobia
Lasting up to 72h
Aura present in 1/3rd
Typical aura are visual, progressive and characterised by transient hemianopic disturbance or spreading scintillating scotoma
52
Which one of the following is least associated with Miller-Fisher syndrome?
Anti-GQ1b antibodies
Areflexia
Ataxia
Postural hypotension
Ophthalmoplegia
Postural hypotension due to autonomic involvement is not a feature of Miller Fisher syndrome, but may be seen in Guillain-Barre syndrome
53
Auto-antiboides in GBS
Anti-ganglioside (anti-GM1) seen in 25%
54
Auto-antibodies in MFS
Anti-GQ1b present in 90%
55
Clinical features of MFS
Associated with ophthalmoplegia, areflexia and ataxia with the eye muscles affefted first.
Presents as a descending paralysis
56
A 45-year-old man is investigated for spastic leg weakness which has come on over the previous 5 days.
He undergoes a whole spine MRI which shows:
Hyperintense T2 signal extending across the spinal cord, between the levels of T9 and T12.
Which of the following is most likely to cause this clinical and radiological presentation?
Conus medullaris syndrome
Human immunodeficiency virus
Cauda equina syndrome
Diabetes mellitus
Brown-Sequard syndrome
The radiographical features are descriptive of transverse myelitis -inflammation across most of the spinal cord.
One notable cause is viral infections (including HIV).
Conus medullaris and cauda equina syndrome are lesions of the lumbar region of the spinal cord.
Diabetes is not well documented to cause transverse myelitis.
Brown-Sequard syndrome is caused by a lesion of one half of the spinal cord only.
57
Causes of transverse myelitis
viral infections: varicella-zoster, herpes simplex, cytomegalovirus, Epstein-Barr, influenza, echovirus, human immunodeficiency virus
bacterial infections: syphilis, Lyme disease
post-infectious (immune mediated)
first symptom of multiple sclerosis (MS) or neuromyelitis optica (NMO)
Next question
58
A 34-year-old female presents due to a number of 'funny-dos'. She describes a sensation that her surroundings are unreal, 'like a dream'. Following this she has been told that she starts to smack her lips, although she has no recollection of doing this. What is the most likely diagnosis?
Myoclonic seizure
Focal aware seizure
Focal impaired awareness seizure
Focal to bilateral seizure
Absence seizure
Focal impaired awareness seizure
59
Focal seizures
previously termed partial seizures
these start in a specific area, on one side of the brain
the level of awareness can vary in focal seizures. The terms focal aware (previously termed 'simple partial'), focal impaired awareness (previously termed 'complex partial') and awareness unknown are used to further describe focal seizures
further to this, focal seizures can be classified as being motor (e.g. Jacksonian march), non-motor (e.g. déjà vu, jamais vu; ) or having other features such as aura
60
A 45-year-old male presents to the acute medical take with a three day history of progressive bilateral leg weakness. Which of the following constellation of signs on examination is the most consistent with a diagnosis of Guillain-Barre Syndrome?
Bradycardia with lower limb hyporeflexia and flaccid paralysis
Tachycardia with lower limb hyporeflexia and spastic paralysis
Bradycardia with lower limb hyperreflexia and spastic paralysis
Tachycardia with lower limb hyporeflexia and flaccid paralysis
Tachycardia with lower limb hyperreflexia and flaccid paralysis
Absent or depressed deep tendon reflexes are classical findings in Guillain-Barre Syndrome (GBS). Hyperreflexia is seen in a GBS variant known as Bickerstaff's encephalitis.
The paralysis in GBS is flaccid.
Autonomic symptoms are common in GBS. The most frequently encountered are tachycardia and urinary retention. Although autonomic dysfunction may manifest as hypertension, hypotension, bradycardia, or ileus, these are not as commonly seen.
61
Progression of symptoms in GBS
Weakness classically ascending with lower limbs affected first.
Proximal muscles tend to be affected earlier than distal.
Sensory symptoms may be mild.
Arfexlia
Cranial nerevs involve
Autonomic involvement e.g. urinary retention or diarrhoea.
62
LP findings in GBS
Rise in protein with normal WCC (albuminocytoligc dissociation found in 66%)
63
The following drugs commonly exacerbate myasthenia gravis, except:
Methotrexate
Gentamicin
Beta-blockers
Quinidin
Penicillamine
The following drugs may exacerbate myasthenia:
penicillamine
quinidine, procainamide
beta-blockers
lithium
phenytoin
antibiotics: gentamicin, macrolides, quinolones, tetracyclines
64
begins as a movement disorder, with a unilateral absence of movements and muscle rigidity with a tremor. It is a progressive neurological disorder that can also affect cognition.
Corticobasal syndrome
65
What are the 2 predominant subtypes of MSA
1) MSA-P - Predominant Parkinsonian features
2) MSA-C - Predominant Cerebellar features
66
A 29-year-old man with a history of schizophrenia is taken to the local Emergency Department as he is generally unwell. He is currently taking olanzapine and citalopram. On examination he is noted to have a temperature of 37.0ºC and his blood pressure is 170/100 mmHg. Which other examination finding would best support a diagnosis of neuroleptic malignant syndrome?
Ataxia
Hyperreflexia
Muscle rigidity
Tremor
Papilloedema
Muscle rigidity
67
pyrexia
muscle rigidity
autonomic lability: typical features include hypertension, tachycardia and tachypnoea
agitated delirium with confusion
Neuroleptic malignant syndrome
68
Firts line treatment of PD
If motor symptoms are affecting the patients life- levodopa
If motor symptoms no affecting the pateint quality of life- dopamine agonist, levodopa or MAO-B inhibitor
69
MOA bromocriptine, ropinirole, cabergoline, apomorphine
Dopamine receptor agonsits
70
MOA selegiline
MAO-B inhibitor
71
MOA entacapone
COMT inhibitor
72
Use of antimuscarinics in PD
Used to treat drug-induced PD rather than idiopathic.
Help with tremor and rigidity
e/g procyclidie, benzotropine, trihexylphenidyl
73
A 23-year-old man with a history of migraine presents for review. His headaches are now occurring about once a week. He describes unilateral, throbbing headaches that may last over 24 hours. Neurological examination is unremarkable. Other than a history of asthma he is fit and well. What is the most suitable therapy to reduce the frequency of migraine attacks?
Propranolol
Zolmitriptan
Topiramate
Amitriptyline
Pizotifen
Topiramate
Pizotifen is used less commonly nowadays due to side-effects such as weight gain. Propranolol should be avoided in asthmatics.
74
A 9-year-old boy is referred to a pediatric neurologist for a headache that has been persistent for the past two months. The mother had initially thought that the boy was having a headache because of school stress but recently the boy has been increasingly involved in accidents while riding his bicycle. The boy says that he could not see his other friends when they rode their bicycle next to him. The boy was born via a Caesarean section and had a normal development so far and is doing well at school. After a thorough examination, the doctor finds that the boy also has a visual defect characterized by an inability to perceive the two temporal visual fields. If this boy undergoes surgery for his condition, which part of this child's hypothalamus would be affected causing weight gain after surgery?
Supraoptic nucleus of the hypothalamus
Posterior hypothalamus
Anterior hypothalamus
Ventromedial area of the hypothalamus
Paraventricular nucleus of the hypothalam
This child presented with the signs and symptoms of a craniopharyngioma. This is a common brain tumor in children and often mimics pituitary adenoma due to the presence of a bitemporal hemianopia in this group of patients. Craniopharyngioma is derived from the Rathke's pouch and it often invades the pituitary and hypothalamus. The ventromedial area of the hypothalamus is often involved.
1: This area of the hypothalamus along with the paraventricular nucleus of the hypothalamus is responsible for the synthesis of antidiuretic hormone and oxytocin, which are transported to the posterior hypothalamus for storage and release.
2: The posterior hypothalamus is responsible for heat generation to maintain core body temperature.
3: The anterior hypothalamus is responsible for heat dissipation to cool down the body to prevent a rise in temperature which would be detrimental to body's internal environment.
4: The ventromedial area of the hypothalamus is often invaded by craniopharyngiomas. This area of the thalamus controls the satiety center and it is removed during surgery, the patient can have uninhibited hunger leading to significant weight gain.
5: This area of the hypothalamus along with the supraoptic nucleus of the hypothalamus is responsible for the synthesis of antidiuretic hormone and oxytocin, which are transported to the posterior hypothalamus for storage and release.
Discuss (2)Improve
75
What differentiates CIDP from AIDP
Defined by progession longer than 8/52
76
A 20-year-old male patient presents to the GP surgery with a 2-year history of upper back pain, shoulder and arm weakness. On inspection, you notice that he has an asymmetric smile. On further examination, there is marked weakness and wasting of the right facial muscles, right trapezius, deltoid and biceps muscles. There is also winging of the right scapula. There is some weakness and wasting of the same muscle groups on the left side but to a much lesser extent. A type of muscular dystrophy is suspected.
What is the inheritance pattern of this condition?
Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
Idiopathic
This patient presents with the classic appearance of facioscapulohumeral muscular dystrophy, which is an autosomal dominant disorder. There is typically an asymmetric pattern.
The other inheritance patterns are not applicable to this condition.
This condition is not idiopathic.
Discuss (1)Improve
77
A 28-year-old lady presents with a two-day history of headaches, nausea and vomiting, and blurred vision.
She is long-sighted and has worn glasses since childhood. She has a background of severe migraines and was recently started on a prophylactic medication by her GP.
On examination, both eyes are red with mid-dilated unreactive pupils bilaterally.
Which medication is the most likely cause of this presentation?
Aspirin
Propranolol
Sodium valproate
Sumatriptan
Topiramate
Topiramate can precipitate acute angle closure glaucoma
Important for meLess important
Topiramate is used as a first-line agent in the prophylaxis of migraine. It is an important cause of drug-induced acute angle closure glaucoma, typically occurring within one month of treatment. Topiramate-induced acute angle closure glaucoma is usually treated with cycloplegia and topical steroids alone rather than laser peripheral iridotomy.
Propranolol can be used as a first-line prophylactic treatment for people with episodic or chronic migraine but it is not known to be associated with acute angle closure glaucoma. Adrenergic drugs, in contrast, can precipitate an attack.
Sodium valproate is licensed for migraine prophylaxis though paradoxically itself commonly causes headaches.
Sumatriptan can be used in the in the acute treatment of migraine. It can commonly cause nausea and vomiting, but not angle closure glaucoma.
High-dose aspirin can be used in the acute treatment of migraine. A single dose of 900mg can be taken as soon as the migraine symptoms develop.
78
Features of Lambert-Eaton syndrome
repeated muscle contractions lead to increased muscle strength (in contrast to myasthenia gravis)
in reality, this is seen in only 50% of patients and following prolonged muscle use muscle strength will eventually decrease
limb-girdle weakness (affects lower limbs first)
hyporeflexia
autonomic symptoms: dry mouth, impotence, difficulty micturating
ophthalmoplegia and ptosis not commonly a feature (unlike in myasthenia gravis)
79
Which one of the following antibodies is associated with ocular opsoclonus-myoclonus in patients with breast cancer?
Anti-Hu
Anti-La
Anti-GAD
Anti-Yo
Anti-Ri
Anti-Ri
80
associated with small cell lung carcinoma and neuroblastomas
sensory neuropathy - may be painful
cerebellar syndrome
encephalomyelitis
Anti-Hu
81
associated with ovarian and breast cancer
cerebellar syndrome
Anti-Yo
82
associated with breast, colorectal and small cell lung carcinoma
stiff person's syndrome or diffuse hypertonia
Anti-GAD antibody
83
AutoAb
- peripheral neuropathy in breast cancer
Purkinje cell antibody
84
Treatment of GTCS
VPA
Lamotrigine or CZM
85
Treatment of absence seizures
VPA or ethosuximide
86
Treatment of myocloniic seizures
VPA
Second line: clonazepam, lamotrigine
87
Treatment of focal seizures
Carbamazepine or lamotrigine
Keppra, oxycarbazine or VPA
88
CZM . in absence or myoclonic seizures
May exacerbate both
89
A 51-year-old woman presents with eye pain, photophobia, a gritty sensation in the both eyes and blurred vision.
She has a background of multiple sclerosis and Grave's disease.
On examination, there is diffuse conjunctival redness and swelling of the eyelids. Proptosis is present bilaterally.
Thyroid function tests are pending.
Given the likely diagnosis, what is the next best investigation?
Ishihara plates
Gonioscopy
MRI STIR sequence
Optical coherence tomography
Orbital ultrasound
Use MRI FLAIR sequence in diagnosis of multiple sclerosis vs. MRI STIR in flares of thyroid eye disease
Important for meLess important
Fat and water both appear bright on T1- and T2-weighted magnetic resonance images. Techniques have therefore been developed to better differentiate soft tissue pathology.
STIR stands for Short inversion Time Inversion Recovery. This technique suppresses signal from fat and thus shows a bright signal in an acute inflammatory process where oedema is present within the tissue. STIR-sequence MRI should be used in patients presenting with a flare of thyroid eye disease. Signal intensity of extraocular muscles on MRI STIR correlates well with disease activity in Grave's ophthalmopathy. The muscles most frequently affected are the medial and inferior recti.
MRI FLAIR (FLuid Attenuation Inversion Recovery) is a similar imaging technique which instead suppresses water. T2-weighted MRI FLAIR is superior for detecting periventricular and cortical/juxtacortical lesions in the diagnosis of multiple sclerosis.
Orbital ultrasound (e.g. B-scan) can be used to identify extraocular muscle enlargement. However, it has a limited role in in assessing disease activity and it is inferior to MRI for showing signs of thyroid eye disease.
Ishihara plates, together with other optic nerve function tests (e.g. best-corrected visual acuity and fundoscopy), may be useful for evaluating potentially sight-threatening optic neuropathy. Assessing colour vision alone, however, is not the best course of action in thyroid eye disease.
Gonioscopy is a technique which allows measurement of the anterior chamber angle using a lens and a slit lamp microscope. It can be used to visualise the iridocorneal angle in suspected cases of glaucoma.
Optic coherence tomography (OCT) has no role in the diagnosis of thyroid eye disease. It is commonly used in ophthalmology for assessing macular conditions, such as age-related macular degeneration.
90
A 42-year-old woman with a history of myasthenia gravis is admitted to the Emergency Department. She is currently taking pyridostigmine but there has been a significant worsening of her symptoms following antibiotic treatment for a chest infection. On examination she is dyspnoeic and cyanotic with quiet breath sounds in both lungs. Other than respiratory support, what are the two treatments of choice?
IV methylprednisolone or plasmapheresis
IV methylprednisolone or intravenous immunoglobulins
Plasmapheresis or atropine
IV methylprednisolone or atropine
Plasmapheresis or intravenous immunoglobulins
This patient is having a myasthenic crisis. Opinions vary as to whether plasmapheresis or intravenous immunoglobulins should be given first-line. Plasmapheresis usually works quicker but involves more expensive equipment
91
Clinical features of myasthenia gravis
The key feature is muscle fatigability - muscles become progressively weaker during periods of activity and slowly improve after periods of rest:
extraocular muscle weakness: diplopia
proximal muscle weakness: face, neck, limb girdle
ptosis
dysphagia
92
Ix in MG
single fibre electromyography: high sensitivity (92-100%)
CT thorax to exclude thymoma
CK normal
autoantibodies: around 85-90% of patients have antibodies to acetylcholine receptors. In the remaining patients, about about 40% are positive for anti-muscle-specific tyrosine kinase antibodies
Tensilon test: IV edrophonium reduces muscle weakness temporarily - not commonly used anymore due to the risk of cardiac arrhythmia
93
Long term Mx of myasethnia
long-acting anticholinesterase inhibitors e.g. pyridostigmine
immunosuppression: prednisolone initially
thymectomy
94
Associations with myotonic dystrophy
distal weakness initially
autosomal dominant
diabetes
dysarthria
95
A 43-year-old man has a routine medical for insurance purposes. The following result is obtained:
Uric acid622 µmol/l (210 - 480)
He is well with no significant past medical history. What is the most appropriate test to perform next?
Lipid profile
Thyroid function test
Calcium
Parathyroid hormone
Pyrophosphate levels
Hyperuricaemia may be associated with both hyperlipidaemia and hypertension. It may also be seen in conjunction with the metabolic syndrome
96
Causes of hyperuricaemia
Increased synethsis:
Lysch-Nyhan disease
Myeloproliferative disorders
Purine rich diet
Exercise
Psoriasis
Cytotoxics
Reduced excretion
Drug- low dose aspirin, diuretics, pyrazinamide
Pre-eclampsia
ETOH
Renal failure
Pb
97
A 48-year-old female who has just completed a course of chemotherapy complains of difficulty using her hands associated with 'pins and needles'. She has also experienced urinary hesitancy. Which cytotoxic drug is most likely to be responsible?
Doxorubicin
Cyclophosphamide
Methotrexate
Vincristine
Bleomycin
Vincristine is associated with peripheral neuropathy. Urinary hesitancy may develop secondary to bladder atony.
98
MOA cyclophosphamide
Alkylating agent causing cross-linking in DNA
99
Adverse effects
Cyclophosphamide
Haemorrhagic cystitis
Myelosuppression
TCC
100
MOA Bleomycin
Cytotoxic antibiotic
Degrades preformed DNA
101
MOA Doxorubicin
Stabilises DNA-topoisomerase II complex inhibiting DNA and RNA synthesis
102
Adverse effects
Bleomycin
Lung fibrosis
103
Adverse effects
Doxorubicin
Cardiomyopathy
104
MOA methotrexate
Dihydrofolate reductase and thymidylate synthesis inhibition
105
MOA 5-FU
Anti-metabolite
Pryimidine analogue inducing cell cycle arrest and apoptosis by blocking thymidylate synthase (works during S phase)
106
MOA 6-mercaptopurine
Purine analogue that is activated by HGPRTase
Decreasing purine synthesis
107
MOA cytarabine
Pyrimidine antagonist
Interferes with DNA synthesis at the S-phase of the cell cycle and inhibits DNA polymerase
108
Adverse effects
MTX
Myelosuppression
Mucositis
Liver fibrosis
Lung fibrosis
109
Adverse effects
5-FU
Myelosuppresion
Mucositis
Dermatitis
110
Adverse effects
6-mercaptopurine
Myelosuppression
111
Adverse effects
Cytarabine
Myelosuppresion
Ataxia
112
MOA vincristine
Inhibits microtubule formation
113
MOA docetaxel
Prevents MT depolymerisation and dissassembly, reducing free tubulin
114
Adverse effects vincristine
Peripheral neuropathy (reversible)
Paralytic ileus
115
Adverse effects vinblastine
Myelosuppression
116
MOA irinotecan
Inhibits topoisomerase I which prevents relaxation of supercoild DNA
117
Advrse effects docetaxel
Neutropaenic
118
Adverse effects
Irinotecan
Myelosuppresion
119
MOA cisplatin
DNA cross-linking
120
MOA hydroxycarbamide
Inhibits ribonucleotide reductase,
reducing DNA synthesis
121
Adverse effects
Cisplatin
Ototoxicity
Peripheral neuropathy
Hypomagnesaemia
122
Adverse effects
Hydroxycarbamide
Myelosuppresion
123
A 47-year-old man with a history of alcohol liver disease is admitted to the gastroenterology ward. He has developed tense ascites again and a plan is made to site an ascitic drain. His renal function after 2 days is as follows:
Na+131 mmol/l
K+3.8 mmol/l
Urea12.2 mmol/l
Creatinine205 µmol/l
Which of the following pathophysiological changes is most likely to be responsible for the declining renal function?
Splanchnic vasoconstriction
Splanchnic vasodilation
Ammonia-induced nephropathy
Intrahepatic portosystemic shunting of blood
Renal artery vasodilation
Hepatorenal syndrome is primarily caused by splanchnic vasodilation
124
Pathophysiology of hepatorenal syndrome
Vasoactive mediators cause splanchnic vasodilation which reduces the SVR-\> pre-renal impairment
This is sensed by the JGA which then activates the RAAS, causing renal vasoconstriction which is not enough to counterbalance the effects of splanchnic vasodilation
125
Type 1 Hepatorenal Syndrome
Rapidly progressive
Doubling of serum creatinine to \>221 or halving of CrCl to \<20ml/min over period of \<2/52
Very poor Px
126
Type 2 Hepatorenal syndrome
Slowly progressive
Poor Px but patients may live longer
127
Mx of hepatorenal syndrome
Terlipressin-\> splanchnic vasoconstriction
Volume expansion with 20% HAS
TIPSS
128
Liddle's syndrome is associated with each one of the following, except:
Alkalosis
Response to treatment with amiloride
Hypertension
Autosomal recessive inheritance
Hypokalaemia
Autosomal recessive inheritance
129
Liddle Syndrome
Rare AD condition
HTN and hypokalaemic alkalosis
Thought to be caused by disordered Na channels in the distal tubules leading to increased Na reabsorption
130
Treatment of Liddle Syndrome
Amiloride or triamterene
131
A 20-year-old woman presents with a 5-day history of painless light brown coloured urine. She has experienced 3 episodes of this over the 5 days. There is no dyspareunia, urgency or pain elsewhere. As of now, she is afebrile though she alludes to being ill with a respiratory infection around three weeks ago.
Urine dipstick revealed protein and blood.
What is the most likely diagnosis?
Post streptococcus glomerulonephritis (PSGN)
UTI
Pyelonephritis
Alport's syndrome
IgA nephropathy
PSGN develops 1-2/52 post URTI
IgA nephropathy develops 1-2/7 after URTI
132
Clinical features of post-streptococcal GN
Typically 7-14/7 post GAS infection
T3HS
Caused by immune complex deposition in the glomeruli
Headache/malaise
Haematuria
Proteinuria
HTN
Low C3
Raised ASO titre
133
Renal biopsy features of PSGN
Causes acute, diffuse proliferative GN
Endothelial proliferation with neutrophils
Electron microscopy- subepithelial humps caused by lump immune complex deposits.
Granular or starry sky appearance on immunofluorescence
134
Glomerulonephritis
Electron microscopy- subepithelial humps caused by lump immune complex deposits.
Granular or starry sky appearance on immunofluorescence
PSGN
135
Most common type of renal stone
Calcium oxalate
136
Features of calcium oxalate kidney stones
85% on nephrolithiasis
Hypercalciuria major risk factor
Hyperoxaluria may also increase risk
Hypocitraturia increases risk as citrate forms complexes with calcium making it more soluble.
Hyperuricosuria may cause uric acid stones to which calcium oxalate binds
137
Features of cystine nephrolithiasis
1%
Cystinuria
Inherited recessive disorder of transmembrane cystine transport-\> decreased aborption of cystine from the intestine and renal tubule.
Multiple stones may form.
Relatively radiodense as sulphur containing
138
Features of uric acid nephrolithiasis
5-10%
Uric acid is a product of purine metabolism
May precipitate when urinary pH low
May be caused by diseases with extesnive tissue breakdown
Radiolucent
139
Features of calcium phosphate nephrolithiasis
10%
May occur in RTA
High urianry pH increases supersaturation of urine with Ca and phsophate
RTA 1 and 3 increase risk of stone formation, 2 and 4 do not
Radio-opaque stones
140
Struvite nephrolithaisis
2-20%
Stones formed from Mg, Ammonia and phosphate
Occur as a result of urease producing bacteria (e.g. Proteus)
Under the alkaline conditions produced, the cystals can precipitate
Slighltly radio-opaque
141
Post-prandial changes in urinary pH
pH falls as purine metabolism produces uric acid.
Then te urine becomes more alkaline
142
Urine pH
Calcium phosphate stones
Normal-alkaline \>5.5
143
Urine pH
Calcium oxalate
Varaiable
6
144
Urine pH
Uric acid
Acid
5.5
145
Urine pH
Struvite
Aklaine
\>7.2
146
Urine pH
Cystine
Normal
6.5
147
