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Trang 1What is the best-fit diagnosis?
Explanation
Irritable bowel syndrome
Irritable bowel syndrome has a female to male preponderance of 2:1 and frequently occurs inpatients with underlying problems of anxiety Examination and investigations are invariablynormal Any history of weight loss, bleeding, onset > 40 years of age or faecal incontinencewould not fit with this picture, however, and these features should trigger other investigations
if the basic examination/investigations are unremarkable
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Trang 3A 48-year-old publican presents with acute-onset confusion and a mild fever On examination
he has signs of chronic liver disease and ascites and is generally tender over his abdomen.Blood tests reveal mildly raised aspartate aminotrasferase (AST) and alanine
aminotransferase (ALT) levels and a bilirubin of 186 μmol/l His creatinine is 145 μmol/l Hisinternational normalised ratio (INR) is 2 and he has a mixed-picture anaemia with a
haemoglobin of 9.8 g/dl, low platelets and an elevated neutrophil count Ascitic tap revealsfluid with a polymorphonuclear cell count of > 250/mm
What is the most likely diagnosis?
Explanation
Spontaneous bacterial peritonitis
This man clearly has alcoholic cirrhosis, which is decompensated with ascites The ascites hasbecome infected and spontaneous bacterial peritonitis has developed Diagnosis is made onthe basis of a white count of > 250 cells/mm , the presence of bacteria on Gram staining and
a positive ascitic fluid culture Pathogens are usually Gram negative, and include Escherichia coli, Klebsiella pneumoniae and enterococci The treatment of choice includes
piperacillin/tazobactam for severe disease, although ciprofloxacin or ofloxacin might be used
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Trang 5An 82-year-old woman is admitted from a nursing home with profuse diarrhoea She was
discharged 2 weeks earlier from the orthopaedic ward, where she was treated for a fracturedhip There was some evidence of osteomyelitis during that admission and she was treated
with clindamycin and discharged on tablets On examination she is drowsy and dehydrated,with lower abdominal tenderness She soils the bed with watery diarrhoea during the
examination Blood tests confirm pre-renal failure
What is the most likely diagnosis?
Explanation
Pseudomembranous colitis
Pseudomembranous colitis can occur in up to 10% of patients who have received a course ofclindamycin In addition, it is thought that many nursing-home residents show chronic
carriage of Clostridium difficile (the causative pathogen) Sigmoidoscopy will usually reveal
raised, white-yellow exudative plaques adherent to the colonic mucosa (the
pseudomembrane) The diagnosis is made by the presence of clostridium toxin in the stool.Treatment is with oral metronidazole or vancomycin for 10–14 days, accompanied by
appropriate rehydration therapy The mortality rate is as high as 10% in the elderly
Salmonellosis would not be impossible here but the osteomyelitis associated with this tends
to affect the long bones and typically occurs in patients with sickle cell disease
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Trang 7Irritable bowel syndrome
Irritable bowel syndrome is a functional disorder of the alimentary tract that is characterised
by altered bowel function, constipation and diarrhoea, with or without abdominal pain,
nausea and vomiting, with no significant physical, laboratory or histological findings
Anaemia, occult blood in the stool, weight loss or nocturnal symptoms cannot be attributed
to irritable bowel syndrome A diet high in soluble fibre can be useful in some patients andothers seem to gain benefit from excluding dairy foods
Characterised by nocturnal diarrhoea
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Trang 9Crohn’s disease can involve any segment in the alimentary canal but distal ileum involvement
is characteristic The inflammatory process involves all layers of the bowel with the formation
of non-caseating granulomas, ulcers and fistulae Discontinuity of the inflammatory processacross the bowel (skip lesions) is also characteristic
Ulcerative colitis
In ulcerative colitis there is diffuse, continuous involvement of the colon with proctitis as anearly feature in 90% of cases The inflammation is confined to the mucosa and lamina propriawith crypt abscess formation Ileal involvement is not a common feature of ulcerative colitisbut the distal segment of the ileum can be involved in the inflammatory process from
adjacent inflamed colonic segment (backwash ileitis)
Table of pathological findings;
Crohn's Disease Ulcerative colitis
Transmural inflammation Mucosa and submucosa only involved
Mucosal ulcers (in 30% only) Inflammatory cell infiltrate
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Trang 11Gastric acid secretion
In the stomach, parietal cell acid secretion is stimulated by one of the three principal
mediators: gastrin, acetylcholine and histamine
Several hormones in the small intestine inhibit gastrin and gastric acid secretion in vivo.Resection of the small bowel leads to the removal of this inhibition and gastric acid
hypersecretion results (Large-bowel resection has no effect on gastric acid secretion.)Systemic mastocytosis is associated with increased histamine production
In pernicious anaemia, gastrin levels are elevated in the presence of mucosal atrophy inthe body of the stomach; acid production is therefore reduced
Steroid therapy and Cushing syndrome have been associated with peptic ulcer disease;
it has not been demonstrated that this possible relationship is due to gastric acid
hypersecretion, however
Vasoactive intestinal polypeptide (VIP) inhibits gastric acid secretion and achlorhydria
is a feature of VIP-secreting tumours
Trang 12Session Progress
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Trang 13Unlike amoebic liver abscess, the symptoms of pyogenic abscess are those of a
systemic febrile illness lasting for only days to weeks and multiple abscesses are usuallyidentified on ultrasound examination of the liver
A raised white cell count and other acute-phase reactants are common in both
conditions
A solitary abscess in the right lobe of the liver is typical of amoebic liver abscess
A history of chronic diarrhoea might be elicited in patients with amoebic liver abscess
A history of recent biliary colic and fever is much more suggestive of cholecystitis
Patient usually aged over 60
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Trang 15Associations of Helicobacter pylori infection
Consequences of Helicobacter pylori infection include duodenal and gastric ulcer and their
complications (eg bleeding and perforation), atrophic gastritis, gastric cancer and associated lymphoid tissue (MALT) lymphoma Epidemiological studies have shown that 95%
mucosa-of low-grade gastric MALT lymphomas are associated with H pylori, and these lymphomas have been shown to arise from B-cell clones at the site of H pylori gastritis Eradication of H pylori can produce clinical and histological remission of these tumours in 70–80% of cases,
but treated patients must be followed closely for residual or recurrent lymphoma
Patients with a variety of upper gastrointestinal symptoms that have been called ‘non-ulcer
dyspepsia’ may or may not be infected with H pylori; at present, however, there is no
generally recognised association of non-ulcer dyspepsia with H pylori infection.
Several mechanisms operate in the pathogenesis of reflux oesophagitis but there is no
recognised association with H pylori infection More recently, it has also become evident that individuals without H pylori are at greater risk for gastroesophageal reflux disease and its
sequelae, Barrett’s oesophagus and adenocarcinoma of the oesophagus Achalasia of the
cardia is a motility disorder leading to failure of relaxation of the lower end of the
oesophagus and is not associated with H pylori infection Coeliac disease is a malabsorption
syndrome due to gluten sensitivity; it is an autoimmnune disorder and is not associated with
Trang 16Session Progress
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Trang 17Alcoholic liver disease
Alcoholic liver diseases include acute alcoholic hepatitis, chronic active hepatitis and
alcoholic cirrhosis
Alcoholic liver disease is the most common cause of cirrhosis in developed countries.Women are more susceptible to alcohol-related liver disease than men, even when
consumption is corrected for body weight
Unlike viral hepatitis, alcoholic hepatitis is associated with a reversed AST:ALT ratio of2:1
Transferrin saturation and serum ferritin are commonly increased in alcoholic liver
disease and minor degrees of iron overload are common
Alcoholic hepatitis and alcoholic fatty infiltration are reversible with abstinence and
Trang 18Session Progress
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Trang 19This test distinguishes between malabsorption due to small-intestinal diseases and
malabsorption due to pancreatic exocrine insufficiency A 5-hour urinary excretion of 5 g orgreater is normal following the oral administration of 25 g of D-xylose to a well-hydrated
subject
Decreased xylose absorption and excretion are found:
In patients with damage to the proximal small intestine
When there is bacterial overgrowth in the small intestine (the bacteria catabolise the
xylose)
Patients with pancreatic steatorrhoea usually have normal xylose absorption Abnormal
results might be encountered in renal failure, in the elderly and in patients with ascites due to
an excretion defect rather than malabsorption
Trang 20Session Progress
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Trang 21The liver receives approximately 1500 ml of blood each minute, two-thirds of which is
provided by the portal vein Portal hypertension is present when the wedged hepatic vein
pressure is more than 5 mmHg higher than the inferior vena cava pressure Because the veins
in the portal system lack valves, increased resistance to flow at any point between the
splanchnic venules and the heart will increase the pressure in all vessels on the intestine site
of the obstruction This is manifest clinically by the development of porto-systemic collaterals(oesophageal varices), splenomegaly and/or ascites
Spider telangiectases, jaundice, hepatomegaly and gynaecomastia are manifestations of
abnormal liver cell function
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Trang 23You are asked by a GP to review a 16-year-old girl who appears tremulous, with some
evidence of ataxia She also has dysarthria, which has developed over time Otherwise sheappears relatively well You carry out some screening tests: the alanine aminotransferase
(ALT) is elevated, the serum caeruloplasmin is low and there is increased urinary copper
neurological symptoms (as in this case), symptoms of chronic cirrhosis, or occasionally withpsychiatric disorders such as depression or obsessive-compulsive disorder
Diagnosis and treatment
The diagnosis is based on abnormal liver function tests, increased urinary copper excretionand decreased serum caeruloplasmin Liver biopsy at an early stage might reveal focal
necrosis and hepatic steatosis Late biopsy reveals cirrhosis The liver copper content is
usually more than five times the upper limit of normal Wilson’s disease is treated with
penicillamine, which acts as a copper chelator
Trang 24Session Progress
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Trang 25obvious signs of chronic liver disease as well as nystagmus and cerebellar ataxia He
appeared very confused Investigations showed an abnormal alanine aminotransferase (ALT),mildly raised bilirubin levels and an alkaline phosphatase level just above the upper limit ofnormal His full blood count and glucose are normal
Which diagnosis fits best with this clinical picture?
Explanation
Wernicke’s encephalopathy
This neurological picture, with no localising signs but in the presence of signs of chronic liverdisease, is likely to be related to Wernicke’s encephalopathy The precipitating cause in thiscase is probably chronic liver disease secondary to alcohol abuse If there had been a history
of head injury, subdural haematoma would have been an alternative diagnosis Computed
tomography often reveals evidence of cerebral atrophy secondary to chronic alcoholism inpatients with Wernicke’s encephalopathy
Management is 100 mg thiamine, intravenously or intramuscularly, followed by oral thiaminereplacement to correct the thiamine deficiency Untreated, this condition can become
Trang 26Session Progress
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Trang 2710 g fat/24 hours There is a mixed-picture anaemia, hypocalcaemia, hypokalaemia and
decreased serum albumin Antigliadin and anti-endomysial antibodies are negative A bowel follow-through study reveals evidence of mucosal oedema
small-Which diagnosis fits best with this clinical picture?
Explanation
Whipple’s disease
Coeliac disease is a possibility with such a history, but negative antigliadin and
anti-endomysial antibodies make this possibility remote Whipple’s disease is a very uncommoncondition, occurring slightly more commonly in men and peaking in the 30–60-year age
group
Diagnosis of Whipple’s disease is based on biopsy of the small-intestinal lamina propria,
which reveals infiltration by periodic acid–Schiff- (PAS-) positive macrophages containing
Gram-positive bacilli The causative organism of Whipple’s disease is the bacterium
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Trang 29myalgia, headaches and cough for some days Apparently, just after returning to the UK therewas a history of diarrhoea On examination you notice some faint rose spots, which blanch, onher chest Blood testing reveals neutropenia You send blood, stool and urine samples for
culture
Which diagnosis fits best with this clinical picture?
Explanation
Typhoid fever
Typhoid fever can have an incubation period of anything from a few days to a few weeks
Diarrhoea or constipation is common at the outset of the illness, but often settles Later
symptoms include fever, malaise, headache, cough, anorexia, sore throat and the
characteristic maculopapular rose spots, which blanch on pressure Laboratory testing mightreveal raised transaminases, and neutropenia is common Multiple blood, stool and urine
cultures are sometimes needed to identify the causative organism, Salmonella typhi.
Acute treatment is with a 14-day course of ciprofloxacin Chronic carriage is possible, and up
to a 4-week course of ciprofloxacin may be required in this case The disease is rare in thiscountry, but it occurs more commonly in parts of the world where there is poor hygiene
Trang 30Session Progress
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Trang 31You are asked to review a nursing-home resident who has generalised inflammation of his
oropharynx and is finding it difficult to eat His past history of note includes the use of a
steroid inhaler for chronic obstructive pulmonary disease On examination there are areas oferythema and a number of white plaques accompanied by some white, curd-like material
Which diagnosis fits best with this clinical picture?
Explanation
Oral thrush
This man is in a nursing home and is using a steroid inhaler for his chronic obstructive
pulmonary disease It is likely that he also has inadequate oral hygiene and a Candida
infection has taken hold The best treatment is to encourage mouth-swilling after using theinhaler and a nystatin mouthwash to get rid of the acute infection It is worth noting that
dentures can harbour Candida spp., so they should be soaked overnight in a dilute nystatin
solution Resistant infections can be treated with a short course of fluconazole
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Trang 33What is the most likely clinical diagnosis in this case?
Explanation
Giardiasis
Giardiasis is caused by the protozoal parasite Giardia lamblia and is transmitted by poor
hygiene practices Giardia infection occurs more commonly in families with X-linked
agammaglobulinaemia and in sexually active homosexual men
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Trang 35of haemolysis (the haptoglobins are normal) No intervention is required and the jaundice
usually subsides over the course of a few days
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Trang 37which might be associated with asthma and chronic bronchospasm.
The occasional sticking of food does, however, flag a warning signal and confirms the needfor diagnostic endoscopy Heartburn is known to occur in up to 60% of adult Lifestyle advice,including alcohol avoidance and giving up smoking, is important, but proton-pump inhibitorsare highly effective in symptom relief
Severe long-term reflux disease can result in Barrett’s oesophagus (columnisation of the
oesophageal squamous epithelium), which is known to predispose to oesophageal carcinoma.People with Barrett’s oesophagus should undergo surveillance endoscopy at least once every
Trang 38Session Progress
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Trang 39episodes of vomiting blood He feels there is an epigastric mass Investigations have revealed
a microcytic anaemia and abnormal liver enzymes Her past history, which might be of
importance, includes excess consumption of sherry and spirits, and a 30 pack-year smokinghistory
Which diagnosis fits best with this clinical picture?
Explanation
Gastric carcinoma
The annual incidence of gastric carcinoma in the Western world is around 7/100,000 In
Japan, the incidence is much higher at around 80/100,000, and it is thought to be
diet-related Most gastric cancers (35%) occur in the antrum There is a slight male preponderance(3:2) and the disease is more common in the over-65 age group Metastasis at presentation ofgastric carcinoma is common, with the liver the commonest site of metastasis Around 5% ofgastric tumours are gastric lymphomas
Risk factors for gastric carcinoma include:
Chronic Helicobacter pylori infection
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