Describe progeria (Hutchinson-gilford progeria), it’s causes and symptoms
A rare genetic disorder in which the aspects of ageing appear during childhood. Due to a point mutation in LMNA coding for a protein that contributes to the nuclear lamina which provides support to the nuclear envelope, mutation cause protein to be attached to nuclear rim. Lack of nuclear lamina causes abnormal shape of nuclear envelope which prevents organising of chromatin during mitosis limiting ability of cell to divide.
Symptoms: include failure to thrive, limited growth, full body alopecia, distinctive small face with recessed jaw. Later atherosclerosis, loss of vision, cardiovascular and kidney problems.
Describe Werner syndrome it’s cause and symptoms
It is an autosomal recessive progeria syndrome, affected individuals typically grow normally until puberty and then suffer from symptoms of premature ageing.
Cause:
It is due to mutation in genes coding for DNA helicases preventing repair of double stranded breaks in DNA
Symptoms: growth retardation, graying of hair/alopecia, wrinkling, atherosclerosis, loss of vision
Describe Delirium, its signs, subtypes, and investigation.
Acute Confusional state is impaired consciousness with onset over hours or days, usually due to an organic.
Signs:
- D isordered thinking i.e. slow, irrational, rambling, incoherent
- E uphoric, fearful, depressed or angry
- L anguage impaired i.e. speech reduced or repetitive
- I llusions/delusions/hallucinations e.g. tactile or visual
- R eversal of sleep-awake cycle
- I nattention
- U naware/disorientated
- M emory deficits
Subtypes:
- Hypoactive
- Hyperactive
- Mixed
Causes:
- Systemic infection e.g. pneumonia, UTI, malaria, wound, IV line
- Intracranial infection e.g. meningitis, encephalitis
- Drugs e.g. opiates, anticonvulsants, levodopa, sedatives, post GA, recreational
- Alcohol or drug withdrawal
- Metabolic e.g. uraemia, liver failure, anaemia, hypo/hyperglycaemia, hypo/hypernatraemia, thyroid dysfunction
- Hypoxia e.g. respiratory or cardiac failure
- Vascular e.g. stroke, MI
- Head injury e.g. raised ICP, SOLs
- Epilepsy e.g. non-convulsive status epilepticus, post ictal states
- Nutritional e.g. thiamine, nicotinic acid, or B12 deficiency
Investigation: B12, Folate, FBC, U+E, Ca, Mg, LFTs, CRP, TFTs
What are the main types of Dementia and how they differ on volumetric MRI
Starting with the most common:
-Alzheimers Disease - Medial temporal and hippocampal atrophy
-Vascular Dementia - Fluid Attenusated Inversion Recovery
(FLAIR) MRI shows ischaemic damage
-Lewy body dementia - MTL is relatively spared DaTSCAN may help
-Fronto-Temporal (Pick’s) dementia - Temporal lobe atrophy is more inferior and there may be marked asymmetry
Describe DaTSCAN
Comprises ioflupane labelled with radioactive iodide. It is injected during SPECT imaging to detect loss of dopaminergic neuron terminal in the striatum. Specificity in Lewy body dementia approx 100%
Describe Vascular dementia
Approx 25% of all dementias. It represents the cumulative effects of many small strokes, thus sudden onset and stepwise deterioration is characteristic. Look for evidence of vascular pathology e.g. hypertension, past strokes, focal CNS signs
Describe Lewy Body dementia, and its management
The 3rd commonest cause of dementia (15-25%), typically fluctuating cognitive impairment, detailed visual hallcinatons (e.g. small animals or children and later/or before parkinsonism. Histology is characterised by lewy body’s in brainstem and neocortex
Management:
-Good evidence for rivastigmine for cognitive features of LBD
Describe Fronto-temporal dementia (Pick’s Disease), its features, and types.
Frontal and temporal atrophy without alzheimer histology. Genes on chromosome 9 are important as in MND. Classically onset before 65, insidious onset, relatively preserved memory and visuospatial skills predominantly personality change and social conduct problems.
Features:
- Personality change, impaired social conduct, hyperorality, disinhibition, increased appetite, perseveration behaviours.
- Macroscopic changes include atrophy of the frontal and temporal lobes. With focal Gyral atrophy with a knife-blade appearance
- Microscopic changes include Pick bodies - spherical aggregations of Tau protein on silver staining, gliosis, neurofibrillary tangles, senile plaques.
- T2 hyperintensity in frontal lobe
- SPECT decreased metabolism in frontal lobe.
Types:
-Behaviour variant Frontotemporal dementia (bvFTD)mostly associated with frontal lobe atrophy
- Primary Progressive Aphasia, second major form that affects language skills both receptive and expressive. Two further subtypes:
- Semantic Variant of PPA, individuals lose the ability to understand or formulate words in a spoken sentence associated with stereotyped behaviour associated with anterior temporal lobe atrophy
- nonfluent/agrammatic variant of PPA, a persons speaking is very hesitant, laboured or ungrammatical. associated with perisylvian atrophy
Describe Alzheimer’s Disease, its presentation, cause, risk factors, and management
It is the leading cause of dementia. Suspect Alzheimer’s in adults with enduring, progressive and global cognitive impairment.
Presentation: Fluctuating, Visuo-spatial skill, memory, verbal abilities and executive function are all affected and there is anosognosia (lack of insight into problems caused by disease). There is often mood and behaviour changes later on in the disease.
Cause: Accumulation of B-amyloid peptide, a degradation product of amyloid precursor protein, results in progressive neuronal damage, neurofibrillary tangles and amyloid plaques and loss of acetylcholine. (5% inherited in AD trait)
Risk factors: FHx, Down’s syndrome, depression, vascular risk factors.
Management: Acetylcholinesterase inhibitors (donepezil, rivastigmine, galantanine) for mild to moderate
- Memantine (a NMDA Antagonist) is reserved for patients with moderate Alzheimers intolerant of above therapy or severe Alzheimers
- reduce vascular risk factor
- social management,
- risperidone may be used for psychosis / agitation
Describe orthostatic hypotension and some causes.
Also known as postural hypotension a common cause of falls in the elderly, partly due to decreased sensitivity of baroreceptors and reduced elasticity of vessels as part of aging.
Patients become unsteady or LOC due to decreased BP on standing from lying.
May also be due to autonomic neuropathy, antihypertensive mediation, overdiuresis, multisystem atrophy.
Describe urge incontinence and its management
Involuntary leakage of urine accompanied by or immediately preceded by urgency of micturition. There is detrusor instability or hyperreflexia leading to involuntary detrusor contraction. May be idiopathic or secondary to neurological problems such as stroke, Parkinson’s, MS, dementia or spinal cord injury.
Management:
- Dip urine to rule out UTI.
- avoid caffeine
- bladder training to increase time between voiding (6 weeks)
- pelvic floor muscle physiotherapy if some stress incontinence symptoms.
- If conservative therapy fails antimuscarinics e.g. oxybutynin 2.5-5mg/12hr maybe effective (SEs: dry mouth, blurred vision, constipation), or mirabegron a B3-agonist which leads to relation of detrusor muscle (can raise blood pressure and cause dry mouth, headache)
- If still no response overactive bladders may be treated with botulinum toxin.
Describe stress incontinence and its management
Involuntary voiding of small quantities of urine with rises in intra-abdominal pressure e.g. sneezing, laughing, coughing. It is commoner in women.
Management:
- exclude UTI and Diabetes.
- Optimise BMI
- Pelvic floor exercises with physiotherapy
- Duloxetine (SNRI) 40mg/12hr PO can reduce stress incontinence.
- surgery for severe stress symptoms resistant to drug or conservative treatment e.g. synthetic slings, mid urethral tension free tape.
Describe faecal incontinence, its causes and management.
Common in elderly, do best to help and get social services involved if necessary.
Causes: often multifactorial
- Sphincter dysfunction e.g. due to vaginal delivery, surgical trauma
- imparied sensation e.g. DM, MS, dementia, spinal cord lesions (always think cauda equina in acute faecal incontinence)
- Faecal impaction leading to overlow diarrhoea
- idiopathic (usually subtle multifactors)
Management:
- PR looking for faecal impaction or poor tone, assess neurological function of legs
- ensure toilets is in easy reach
- obey call-to-stool impulses
- ensure access to latest continence aids e.g. pads
- pelvic floor rehab may help
- loperamide 2-4mg 45min before social events may prevent accidents
- if faecal impaction, laxatives suppositories or enemas
What are Fried’s 5 criteria of frailty?
- Unintentional weight loss
- Exhaustion/low energy
- Low grip strength / muscle weakness
- slow walking speed
- low physical activity
What are Issac’s Geriatric Giants?
- Immobility
- Instability
- Incontinence
- Impaired intellect
Describe pressure sores, staging, treatment, and prevention.
Uninterrupted pressure on skin leads to ulcers and extensive, painful, subcutaneous destruction e.g. on the sacrum, heel, or greater trochanter. Can be complicated by osteomyelitis and extends hospital stays by months.
Staging:
- Stage 1 = non-blanching erythema over intact skin
- Stage 2 = partial thickness skin loss e.g. shallow crater
- Stage 3 = full thickness skin loss, extending into fat
- Stage 4 = destruction of muscle, bone, or tendons.
Treatment:
- prevent getting worse
- optimise nutrition
- dress area
- elevate area
- debridement as neccessary
- topical negative pressure treatment
- vascular reconstruction surgery if needed
- split thickness skin grafts
- neurosensory myocutaneous flap surgery
Prevention:
- educate patient
- proper positioning with regular turning
- pressure negative mattress
Describe Carotid Sinus Syndrome
Hypersensitive baroreceptors cause excessive reflex bradycardia +/- vasodilatation on minimal stimulation e.g. head-turning or shaving
Describe the Montreal Cognitive Assessment (MoCA)
A 30-point test alternative to the MMSE useful in the setting of mild cognitive impairment. A good tool for detecting mild cognitive impairment and Early Alzheimers disease, may also be useful in detection of cognitive patients in younger populations affected by neurological disease e.g. Parkinson’s
It assesses several domains:
- Short-term memory recall (5 points) involves two learning trials of 5 nouns and a delayed recall after approx 5 mins
- Visuospatial abilities are assessed using a clock-drawing test (3 points) and a 3D cube copy (1 point)
- Executive function is assessed by a trailing making B task (1 point), a phonemic fluency task (1 point) and a two-item verbal abstraction task (2 points)
- Attention, concentration and working memory are evaluated using a target detection using tapping (1 point) a serial subtraction task (3 points) and digits forward and backward (1 point each)
- Language is assessed using a three-item confrontation naming task in with low-familiarity animals (lion, camel, rhinoceros 3 points) repetition of two syntactically complex sentences (2 points)
- Orientation to time and pace (6 points)
Describe the Malnutrition Universal Screening Tool (MUST)
Five-step screening process to identigy adults who are malnourish, at risk of malnutrition of obese.
Step 1: measure height and weight to get a BMI score using chart (BMI over 20 = 0pt, BMI 18.5 -20 = 1pt, BMI less than 18.5 =2pt)
Step 2: Note percentage unplanned weight loss and score using table (Less than 5 = 0pt, 5-10 = 1pt)
Step 3: Establish acute disease effect and score (if acutely ill and Kelly no nutritional intake for over 5 days score 2pt)
Step 4: add scores to obtain risk of malnutrition
Step 5: 0 = low risk, repeat screening as necessary
1= medium risk, observe and document dietary intake and set goals to increase nutritional intake, 2 or more = high risk, refer to dietician, monitor and review regularly
Describe the Confusion Assessment Method (CAM) score.
Feature 1: Acute Onset and Fluctuating Course e.g. did the behaviour fluctuate during the day, tend to come and go or increase and decrease in severity.
Feature 2: Inattention e.g. did the patient have difficulty focusing for example being easily distracted or having trouble keeping tack of what was said
Feature 3: Disorganised thinking e.g. was the patients thinking disorganised or incoherent, such as rambling or irrelevant conversation, unpredictable switching between subjects
Feature 4: Altered level of consciousness e.g. anything other than alert.
Diagnosis of delirium by CAM requires presence of features 1 and 2 and either 3 or 4.
Describe Benign Prostatic Hyperplasia (BPH), its features, tests, and management.
It is common (24% if aged 40-64, 40% if older). It is due to benign nodular or diffuse proliferation of musculofibrous and glandular layers of prostate. The inner (transitional) zone enlarges in contrast to peripheral layer expansion seen in prostate cancer.
Features: Lower urinary tract symptoms such as nocturia, frequency, urgency, post-micturation dribble, poor stream/flow, hesitancy, overflow incontinence, haematuria, bladder stones, UTIs.
Tests: PR (smooth enlarged prostate), MSU, U+E, ultrasound, rule out cancer PSA and transrectal ultrasound and biopsy.
Management:
- Conservative management includes avoidance of alcohol and caffeine.
- Drugs are useful in mild disease alpha-blockers such as tamsulosin are 1st line, they act to reduce smooth muscle tone. Fin astride can be used to shrink prostate
- If severe symptoms surgical options include transurethral resection of prostate (TURP)(post-surgery hyponatraemia in 15% due to de-ionised water used in irrigation), Transurethal incision of the prostate (TUIP) and transurethap laser-induced prostatectomy (TULIP).
Describe Giant Cell Arteritis (GCA), its presentation, tests, and managment
Large vessel Vasculitis, common in the elderly (consider takaysu’s if under 55yrs) associated with Polymylagia Rheumatica (PMR).
Presentation: headache, temporal artery and scalp tenderness, jaw claudication, amaurosis fugax or sudden blindness.
Test: increased ESR (typically over 47) + CRP (typically greater than 2.45mg/dL), increased platelets, increased ALP and decreased Hb.
Management:
- Immediate Prednisolone 80mg/d PO due to risk of irreversible blindness.
- Temporal biopsy within 7 days of steroids (beware skip lesions)
Describe Advanced Care Planning
All patients reaching the end of their life should be offered the opportunity (but not feel obliged) to plan ahead. ACP is a process of discussions between a patient and professionals regarding their future care, decisions and wishes can be documented in the following ways and the patient should be informed of these measures:
- Advanced statement - documentation of patients preferences and wishes.
- Advanced Decision - legally binding, made when patient has capacity to be used if they no longer have capacity regarding refusal of specific treatments in specific situations.
- Lasting Power of Attorney - may be given by the patient to a nominated patient which grants that person legal responsibility for making decisions regarding the patients health.
- The setting of end of life care should also be discussed as well as including religious and cultural views.
Describe Herpes Zoster Ophthalmicus, its symptoms, and management
Deactivation of the varicella zoster virus in the area supplied by the opthalmic division of the Trigeminal nerve. It accounts for 10% of case of shingles.
Symptoms: Vesicular rash around the eye, Hutchinson’s sign (rash on the tip or side of nose) indicating naso ciliary involvement.
Management:
- Oral antiviral for 7-10days
- Urgent opthammologic review.
-
Miscellaneous78
-
PACES Viva Questions141
-
MRCP Part 2 Written80
-
Cardiology179
-
Medical Emergencies30
-
Infectious Diseases93
-
Geriatrics34
-
Oncology55
-
ENT37
-
Opthamology38
-
Dermatology105
-
Gynaecology40
-
Orthopaedics + Trauma + Surgery87
-
Obstetrics54
-
Urology19
-
Sexual Health17
-
Renal Medicine83
-
Pharmacology169
-
Rheumatology75
-
Gastroenterology91
-
Haematology135
-
Neurology193
-
Respiratory Medicine76
-
Endocrinology107
-
Presenting complaints24
-
SBA tips279
-
Pyschiatry58
-
OSCE Stations73
-
Ethics & Law9
-
Paediatrics119
