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Alports Syndrome Print E-mail
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Contributed by Jim Newton   
Wednesday, 07 March 2007
Untitled Document

 

Familial glomerular disease

X linked dominant (affected males pass on to 100% of female offspring)

Mutation on collagen IV alpha 5 gene


Features

  • Hereditary nephritis – renal failure and haematuria
  • High frequency nerve deafness
  • Bilateral anterior lenticonus
  • Retinitis Pigmentosa
  • Cataracts
  • Leiomyoma

Progressive in males to renal failure

Transplanted kidney can develop Goodpasture’s, as GBM antigen is absent in severe form

Last Updated ( Wednesday, 07 March 2007 )
Radiculopathy (by nerve root) Print E-mail
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Contributed by Alex Gordon-Weeks   
Sunday, 04 March 2007
Untitled Document

Root values indicate the roots that become compressed, not the only roots making up the particular nerve.

Lower Limb

    • L1, L2, L3
      • Femoral nerve
      • Weakness in hip flexion
      • Knee jerk lost
      • Sensory loss over anterior and medial aspect of thigh
    • L2, L3, L4
      • Obturator nerve
      • Weakness of hip adduction
      • Sensory loss on inner most aspect of thigh
    • L4, L5, S1, S2
      • Sciatic nerve
      • Weakness in hamstrings, and in plantar flexion and foot eversion
      • Ankle reflex lost
      • Sensory loss over sole and lateral aspect of foot
    • L4, L5
      • Common peroneal nerve
      • Weakness in dorsiflexion and eversion of foot (foot drop with high stepping gait)
      • Sensory loss over dorsum of foot
    • S1, S2
      • Posterior tibial nerve
      • Weakness of plantar flexion and inversion of foot
      • Ankle reflex lost
      • Sensory loss over sole of foot

Upper limb

  • C5, C6, C7
    • Musculocutaneous nerve
    • Weakness of biceps and brachialis
    • Biceps reflex lost
    • Sensory loss on lateral aspect of lower arm (lateral cutaneous nerve of forearm)
  • C6, C7, C8
    • Radial nerve
    • Weakness and wasting of triceps and extensors of the wrist and fingers
    • Triceps reflex lost
    • Sensory loss over dorsum of hand and forearm
    • Waiters tip position adopted
  • C7, C8
    • Median nerve
    • Weakness of thumb abduction and opposition and pronation of forearm               
    • Sensory loss over lateral three and one half digits and palm
  • C7, C8
    • Ulnar nerve
    • Weakness and wasting of adductor pollicis and 1st dorsal interosseous
    • Sensory loss over medial one and one half digits and palm
    • Ulnar claw hand results (main-en-griffe)

     

Last Updated ( Monday, 08 October 2007 )
Osteoarthritis Print E-mail
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Contributed by Alex Gordon-Weeks   
Sunday, 25 February 2007
Untitled Document
  • Characterised by:
    • Degeneration of articular cartilage and
    • Simultaneous proliferation of new bone, cartilage and connective tissue
  • Results in joint remodelling with secondary inflammation
  • Epidemiology:
    • Degenerative changes occur in joints from age 30
    • 80% of people have radiographic evidence of OA > age 65
    • Incidence increases with age because the changes take many years to display clinical consequences
    • Males = females, but older females have more severe disease
    • Genetic factors
    • Obesity and increased BMI are associated with OA of the knee
    • Osteoporosis (OA usually occurs in strong bones, osteoporotic bones fracture) and smoking appear to be mildly protective
    • Patients with mal-aligned fractures or those involving the joint (e.g. Salter-Harris type IV) are at risk of secondary osteoarthritis
  • Aetiology:
    • Primary OA if aetiology unknown
    • Secondary OA if recognisable local or systemic factor present (see table)
Developmental Perthes’ disease
  Slipped femoral epiphysis
Traumatic Intra-articular fracture
  Meniscectomy
  Hypermobility – Ehlers-Danlos
Metabolic Haemochromotosis
  Wilson’s disease
  Chondrocalcinosis
Inflammatory Rheumatoid arthritis
  Gout
  Septic arthritis
  Haemophilia
Aseptic necrosis Corticosteroids
  Sickle-cell disease
  • Pathology:
    • destruction of articular cartilage
    • subchondral cyst formation
    • remodelling and osteophyte formation (c.f. syndesmophyte formation in ankylosing spondylitis)
    • joint capsule fibrosis
  • Features:
    • Commonly involved joints:
      • Weight bearing joints (spine, hips, knees) and hands
    • Commonly confined to one or only a few joints
    • Gradual onset
    • Pain initially intermittent, worse on exercise and relieved by rest
    • As disease progresses:
      • Limitation of movement
        • Pain and muscular spasm secondary to capsular fibrosis and osteophyte formation
      • Joint effusions
      • Crepitus
      • Muscle wasting
      • Nocturnal aching
    • Nodal osteoarthritis
      • Distinct from generalised OA
        • Affects middle aged women
      • Nodes on terminal interphalangeal joints – Heberden’s nodes
      • Nodes on proximal interphalangeal joints – Bouchard’s nodes
  • Investigations:
    • FBC and ESR normal (if raised, suggests inflammatory arthropathy)
    • Synovial fluid viscous with a low cell count
    • Radiology
      • Loss of joint space
      • Marginal osteophytes
      • Subchondral bone sclerosis
      • Bone remodelling
      • Cyst formation

      Click here to see changes typical of mild and more severe OA

    • Isotope scan
      • Increase uptake in affected joints (shown here in the left knee, note the high uptake area in the right elbow where isotope was injected)
  • Management - general
    • Aims:
      • Pain relief
      • Maintain and improve joint function
    • Physiotherapy - Improve muscle strength and maintain mobility
    • Weight loss
    • Joint protection
      • Rubber heels to act as shock absorbers and prevent slipping
      • Built-up shoes to equal leg length
      • Use of sticks/frames
    • Change in occupation and give up certain hobbies / sports
  • Management – therapeutic
    • Non-narcotic analgesics
      • Paracetamol / co-codamol
      • NSAIDs – aspirin at analgesic dose
        • Check patient not suffering with asthma, previous GI haemorrhage or renal impairment,
      • intra-articular steroid injections
      • COX-II specific inhibitors (celecoxib, rofecoxib etc...) have fewer side effects than typical NSAID's but have been linked to cardiac death in patients with coronary artery disease and many of these medications have since been withdrawn
  • Management – surgery
    • Undertaken mostly for pain, which disturbs sleep, and limits mobility
    • Arthroscopy and wash-out
      • Delays need for more invasive surgery, often provides short-term relief
    • Osteotomy
      • This helps to realign the joint, for example, medial or lateral compartment OA at the knee that is resulting in varus or valgus deformity respectively
    • Total joint replacement - arthroplasty
      • Hips and knees commonly
      • indication is continual pain and immobility despite conservative measures and analgesia
      • Surgical complications (hip): DVT, wound infection, dislocation, loosening of the prosthesis, hip fracture (early or late), change in leg length
    • Hip resurfacing
      • For younger patients in whom there are concerns regarding the lifetime of the arthrodesis this may be a better option
      • The femoral head is covered with a metal surface and this articulates with an acetabular implant
      • Advantages: low dislocation risk, femoral head preserved, lower risk of femur fracture,
      • Disadvantages: no long term data as procedure first used in 1997, not as many surgeons capable of doing procedure yet
    • Arthrodesis
      • Fusion of joint
      • Relieves pain
        • May result in overloading and degeneration of other joint
  • Evidence Based Medicine:
    • A study looking at the early results (first 30 months) from hip resurfacing included 116 hips from 98 patients aged 19-67 (1). In the post operative period there was one dislocation, two episodes of avascular necrosis (patients with large subchondrial cysts who would now not be offered hip resurfacing) and a fracture following a fall. There were significant improvements in pain, stiffness and physical condition compared with preoperative states. Hip resurfacing has clear patient benefits but to date, experience is still limited, particularly regarding long-term benefit and implant survival.

  • References -
    • 1) Hashmi, M. A., Burton, M., Holland, J. P., et al. EARLY RESULTS OF BIRMINGHAM HIP RESURFACING, J Bone Joint Surg Br Proceedings, Jul 2003; 85-B: 158, Abstract
Last Updated ( Thursday, 22 March 2007 )
Ankylosing Spondylitis Print E-mail
User Rating: / 2
Contributed by Alex Gordon-Weeks   
Friday, 23 February 2007
Untitled Document
  • Chronic, inflammatory arthritis (spondylitis referring to inflammation and spondylosis to degenerative changes)
  • Spine and sacroiliac joints affected
  • Characterised by progressive stiffening and fusion of the axial skeleton
  • Aetiology:
    • Peak incidence in second and third decades
    • Males > females (3:1) with disease also being more severe in men
    • > 90% HLA-B27 positive
    • Relatives of patient have increased risk of:           
      • Psoriatic arthritis
      • Inflammatory bowel disease
      • Reiter’s syndrome
  • Pathology:
    • Inflammation at ligamentous attachments to bone (enthesitis)
    • Enthesitis leads to syndesmophyte formation (new bone formation in the vertical rather than horizontal plane as occurs in osteoarthritis of the spine)
    • Bridging syndesmophytes occur between adjacent vertebrae resulting in immobility
    • Fusion of intervertebral discs
    • Erosion of the sacroiliac joints
  • Histoy:
    • Insidious onset
    • Recurring back pain and stiffness
    • Characteristically worse in morning and after activity
    • Chest pain, made worse by breathing (secondary to costochondritis)
    • Hands and wrists are spared
    • Associated with –
      • Inflammatory bowel disease (Crohn’s and UC)
      • Anterior uveitis which may be the presenting symptom (usually effecting the ciliary body and iris, presents with a painful, red eye, photophobia and blurring of vision)
      • Plantar fascitis
      • Achilles tendonitis
  • Examination:
    • Limitation of lumbar movements – particularly flexion
    • Question mark posture secondary to kyphosis
    • Pain over sacroiliac joints – get the patient to lie on their front.  Depressing the sacrum will reproduce the pain
    • Schoeber’s test – measures the degree of back stiffness by measuring spinous process separation on forward flexion of the spine.  Ensure movement is within the spinal column rather than just the hips!
    • Paraspinal muscle wasting
    • Aortic regurgitation murmur – a rare complication in longstanding cases secondary to chronic aortitis
  • Investigations:
    • ESR and CRP are raised
    • Rheumatoid factor negative
    • Slit lamp examination during an episode of uveitis will show keratic precipitates in the anterior chamber and there may be hypopyon (pus in the anterior chamber).  The pupil may be irregular due to adhesion to the lens
    • Radiological evidence of sacroiliitis
    • Squaring of lumbar vertebrae caused by enthesitis at the intervertebral ligament insertions
    • Bamboo spine
    • Isotope scan – increased uptake in sacroiliac joints (osteosclerosis) and spine
  • Management:
    • Aims:
        • Relieve pain and stiffness
        • Maintain range of skeletal mobility
        • Avoid development of deformities
    • Early exercise routines and Physiotherapy – this help to break down and prevent syndesmophyte formation.  Early physiotherapy is thus the most useful management for preserving mobility
    • NSAIDs – symptomatic relief, do not alter progression of disease
    • Steroid injections for plantar fascitis
    • Immunosuppressants and TNF-alpha blockers can be tried
    • Uveitis – reduce the inflammation with topical steroids and lower the anterior chamber pressure (high due to adhesions and interference of the trabecular meshwork) using cycloplegic agents (those that prevent papillary constriction by paralysing the ciliary muscle and are therefore parasympathetic blockers) such as cyclopentolate and atropine (but beware of precipitating angle closure glaucoma!)
  • Evidence Based Medicine:
    • Evidence is growing for the use of Infliximab, a monoclonal antibody against tumour necrosis factor (TNF) in the treatment of patients with ankylosing spondylitis. It has recently been found that low doses of infliximab can have beneficial effects in terms of symptomatic and functional improvement (1)
  • References:
    • 1) R. N. Jois et al. Low-dose infliximab treatment for ankylosing spondylitis—clinically- and cost-effective, (Rheumatology), 2006 45(12):1566-1569
Last Updated ( Monday, 08 October 2007 )
Polymyositis and Dermatomyositis Print E-mail
User Rating: / 0
Contributed by Alex Gordon-Weeks   
Friday, 23 February 2007
Untitled Document
  • Muscle weakness and inflammatory changes in striated muscle and skin predominate
  • With skin involvement = dermatomyositis (DM), without skin involvement = polymyositis (PM)
  • Aetiology:
    • Unclear
    • Rare (<10 per million),
    • HLA-B8 and –DR3 are risk factors
    • Women > men
    • ? para-neoplastic – associated with several cancers including stomach, lung and breast.  The myositis may predate the malignancy and so patients with DM or PM should be investigated or malignancy
  • Features:
    • Can be diagnosed at any age, with several subsets being described
    • Proximal muscle weakness (the best test for this is to ask someone to stand from a squatting position), myalgia and arthralgia
    • May also involve the striated muscle of the pharynx and larynx leading to dysphagia, dystonia and respiratory complications requiring ventilation
    • Rash – purple (heliotrope) around the eyelids and on the hands
  • Investigations:
    • Serum enzymes raised
      • AST, LDH, CK
    • ESR may be raised
    • Antibodies – anti-Jo-1 is often raised, ANA and rheumatoid factor may also be raised
    • Electromicroscopy – muscle necrosis, inflammation and then fibrosis
    • Investigation for malignancy – if no other evidence of malignancy, chest x-ray, mammography, tumour markers and abdominal USS are appropriate
  • Management:
    • Steroids (oral prednisolone, 1-2mg/kg/day) with slow tapering of dose after regression of symptoms
    • Immunosuppressive agents can be used to lessen the steroid dose required
  • Evidence Based:
    • Some small studies(1) have shown intravenous immunoglobulin to be beneficial in cases resistant to steroids. Improvements were observed both in the degree of pain experienced, the degree of cutaneous involvement and histological derangements found on muscle biopsy
  • References:
    • 1) DALAKAS M. C. Controlled studies with high-dose intravenous immunoglobulin in the treatment of dermatomyositis, inclusion body myositis, and polymyositis (Neurology), 1998, vol. 51, no 6 (30 ref.), pp. S37-S45

 

Last Updated ( Monday, 08 October 2007 )
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