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Wernicke's Encephelopathy and Korsakoff's Syndrome

Wernicke’s Encephalopathy This is a disorder that occurs as a result of inadequate levels of vitamin B1 (thiamine) in the body. It results in: Ataxia Ophthalmoplegia Nystagmus – may be horizontal and vertical  
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over 6 years ago
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Functional Bowel Disease (IBS)

 
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Gallstones

Gallstones and biliary disease can be a bit confusing, and there is a lot of overlap. Essentially, gallstones themselves are not problematic in the vast majority of cases, but can predispose the other problems with the biliary tree.   Gallstones  
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Peptic Ulcer Disease

 
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Paget's Disease of the Nipple

A malignant disease which has an eczematous appearance, involving the nipple. It is commonly associated with an underlying ductal carcinoma in situ. It is associated with 2% of all cases of breast cancer.   Presentation An erythematous ‘eczema-like’ rash, usually unilateral. Itchy, inflamed nipple Burning sensation Discharge from the affect area  
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Autosomal dominant polycystic kidney disease (ADPKD)

ADPKD is an autosomal dominant disorder characterised by the presence of cysts in both kidneys. The cysts are numerous and fluid-filled, resulting in massive enlargement of the kidneys, often with progression to renal failure. The disease can also affect the liver, pancreas, and rarely, the heart and brain.  ADPKD has an incidence of 1/1000 and account for approximately 5% of patients with ESRF requiring replacement therapy.     
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Goodpasture’s syndrome (anti-GBM antibody disease)

  This is a rare, genetic, autoimmune condition characterised by a combination of glomerulonephritis with alveolar hemorrhage in the presence of circulating anti-glomerular basement membrane (GBM) antibodies.  Circulating anti-GBM antibodies bind to basement membranes in the kidneys and lungs, fix complement and trigger a cell-mediated inflammatory response, causing glomerulonephritis and pulmonary capillaritis.    Specific predisposing factors include the following: Association with HLA-DR2  
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over 6 years ago
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Inhaled Corticosteroids

Inhaled corticosteroids  These are used for their anti-inflammatory effects in asthma. They are very effective in asthma, but are of limited use in COPD.   Mechanism If you want lots of info on steroids, see the Cushing’s disease notes. In relation to asthma:  
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Huntington's Disease

Huntington’s disease – HD - (aka Huntington’s chorea, named after George Huntington [1872]) is an autosomal dominant disorder that shows full penetrance. Treatment is supportive only   Epidemiology and Aeitiology Approximately affects 5-10 per 100 000 individuals  
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Motor Neuron Disease (MND)

Relatively common disease, seen worldwide. There is degeneration of motor neurons in the motor cortex and spinal cord, affecting both upper and lower motor neurons. MND never causes sensory problems   MND is a general term used to describe several types of motor neurone degeneration. Some clinicians (especially in the USA) do not use to the term MND, and instead refer to the individual types of degeneration, e.g.:  
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over 6 years ago
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Neurodegenerative Disease - Comparison

Disease  
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Neurofibromatosis

There are two types of neurofibromatosis, both inherited in an autosomal dominant manner, although some cases arise from spontaneous mutation. It results in benign tumours of the nervous system and bony and dermatological deformities.   Type I Neurofibromatosis – NF1 – aka von Recklinghausen’s disease  
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Peripheral Vascular Disease (PVD)

Peripheral vascular disease (PVD) is due to atherosclerosis of arteries in the limbs. The level of arterial occlusion present is proportional to the symptoms. The pathogenesis and risk factors are the same as for coronary artery disease (CAD), and include: Hypertension Dyslipidaemia High LDL and low LDL levels Diabetes Obesity FH of arterial disease Smoking Age Male gender   Epidemiology  
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Cystic Fibrosis (CF)

This is the most common life-limiting inherited disease in Caucasians. It is caused by a genetic mutation that alters mucus production, resulting in a more viscous solution. It is autosomal recessive.   Life expectancy is improving. Newborns with CF have a life-expectancy of about 40 years. The condition is inherited in an autosomal recessive pattern.   Epidemiology Most common in Caucasians, rare in other races.    
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Hirschsprung’s Disease

A congenital abnormality, whereby there is improper innervation of the large intestine, extending from the rectum, sometimes proximally into the colon. Epidemiology Male predominance   Aetiology 30% of cases have a FH Several genes have been identified, one of which is on the X chromosome, and thus may explain the male predominance.  
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Patterns of Disease Inheritance

Mendelian inheritance is a term sometimes used to describe patterns of inheritance, based on the original ideas of dominant and recessive genes, first proposed by the Gregorian Monk Mendel.   Determining patterns of inheritance is greatly aided by the use of pedigrees. Drawing out the ‘family tree’ and highlight affected individuals is a good way of noting down a lot of information without having to write much, and also makes the pattern easier to spot.  
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Meningitis

Definitions Meningitis – although this technically only means inflammation of the meninges, it is usually taken to mean infection. Meningitis is far more common in infants and children than in adults.   Causes There are a wide range of causes of meningism; typically: viral, bacterial and endogenous (e.g. malignancy, autoimmune disease, subarachnoid haemorrhage). Prions and protozoa can also cause the disease.  
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Measles

Now relatively rare in the UK Older children have more severe disease Caused by the Morbillivirus, which is a type of paramyoxovirus This is a single stranded, enveloped RNA virus It is a highly contagious infection of the respiratory system, and can be passed on by airborne transmission, via droplets expelled in coughing, sneezing and respiration.  
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over 6 years ago
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Mumps

Background Mumps is a NOTIFIABLE DISEASE in the UK Another viral respiratory tract infection. Caused by the mumps virus. Most common in winter/spring Spread by droplet infection Not as infectious as measles    
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Osteosarcoma

Osteosarcoma is the most common malignant primary bone tumour. It frequently occurs in late childhood and tends to arise in the metaphyses of the long bones. It may present with pain, swelling or a pathological fracture. Treatment involves resection and chemotherapy. The cure rate is approximately 50% as metastatic disease is not uncommon.  
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