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Change in bowel habit > lo > Flashcards

lo Flashcards

1
Q

A) What is the inheritance patter of Familial Adenomatous Polyposis?

B) What is the gene defect in FAP?

C) What is the molecular Mechanism of APC?

D) Features?

A

A) Autosomal Dominant (penetrance is not 100% so just because you have it doesn’t mean you will get colorectal cancer)

B) Gene defect = inactivation of Adenomatous Polyposis Colic (APC) which codes for APC protein - this is tumour supressor gene (5 q21-22)

C)

  • Binds to Beta-catenin (also a protein) and mediates degradation of it
  • No binding -> no degradation -> accumulation of genes that promote cell division (Beta-catenin binds to T-Cell Factor (TCF) and promotes/triggers the transcription of genes that lead to the cell division
  • APC defect also causes chromosomal instability

D)

  • Large number of polyps in the colon from adolescence
  • 90% have pigmented lesion in retina (CHRPE)

E)

  • Protein truncation test
  • direct sequencing
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2
Q

Why do defects in APC predispose to cancer?

A
  • Two-Hit hypothesis
  • Normal person has two working copies of their APC gene, so if one mutation happens then no problem the other is working however in some there is inherited defect, so they have only one working one - if there is a somatic mutation then the APC gene will stop working
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3
Q

A) What is the inheritance patter of Hereditary Non-polyposis Colon Cancer (HNPCC) - LYNCH SYNDROME?

B) What is the gene defect in HNPCC?

C) Features?

A

A) Autosomal Dominant

B) MLH1 and MSH2 - defect in the gene which work on DNA mismatch repair-> leads to micro-satellite instability

C)

  • High risk colon cancer
  • Can be underlying reason of other types of cancer (endometrium, ovarian, stomach)
  • Low number of polyps
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4
Q

Compare and contrast FAP and HNPCC.

A

FAP:
1- Large number of polyps
2- Low mutation rate
3- high risk of cancer due to the high number of polyps

HNPCC:
1- Low number of polyps
2- High mutation rate
3- High risk of cancer due to the high mutation rate despite low number of polyps

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5
Q

Distinguish between oncogenes and tumor suppressor genes

A

→ Instead of there being loss of function mutation as happen in the suppressor gene, in oncogenes there is gain of function (a mutation in proto-oncogene creates an oncogene) mutation, this mutation enables the oncogene to stimulate cell survival and proliferation leading to excessive cell survival and proliferation

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6
Q

Describe the screening in scotland for FAP and HNPCC.

A
  • If you are over 50 years old you will get screened anyway with an occult blood test every two years
  • if you are positive, then you will get a colonoscopy
  • However, if you are known to have FAP or HNCPP then you will have bi-annual colonoscopy from 25 years old
  • If you are moderate to high risk individual (so you 3 or more affected relatives in a first degree kinship with each other not less than 50) then colonscopy every 5 years from age 50-75
  • Another moderate-high risk is 2 affected relatives less than 60 years old
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7
Q

What are the three layers of the colon?

A
  • Mucosa
  • Submucosa
  • Outer longitudinal muscles (thick layer of muscle)
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8
Q

Describe the staging of bowel cancer TMN.

A

T = Size of the tumour

  • T1 = tumour only in the inner layer of the bowel
  • T2 = tumour has grown into the muscle layer
  • T3 = tumour grown into the outer lining of the bowel
  • T4 = through the out wall of the bowel and into another structure potentially

N = Nodes

  • N0 = NO NODES
  • N1 = 1-3
  • N2 = 4 OR MORE

M = METASTASIS

  • M0 = none
  • M1 = present
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9
Q

What is the most common type of bowel cancer?

A
  • Sporadic (through the adeno-carcinoma pathway - microsatellite stable colorectal cancer)

(FAP is same pathway as sporadic)

(HNPCC = microsatellite instability)

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10
Q

What is a red flag for change in bowel habit?

A

change in bowel habit for more than 4 weeks

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11
Q

What is the TNM and histology used for in CRC?

A
  • for prognosis
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12
Q

List 2 common variants of CRC.

A
  • Adenocarcinoma

Serrated neoplasia

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13
Q

Why has the NHS become over strethced?

A
  • Increasing life expectancy
  • Increasing costs of tTx
  • Increase patient expectations
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14
Q

What is a big issue with a lot of strategies of resources allocation within the NHS?

A
  • It is difficult to define certain measures.
  • For example it is difficult to decide which health issues are equal to give them same value and dedicate set resources if we were to go with equal access to treatment
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15
Q

What is QALY?

A

Quality Adjusted Life Years

  • Quality of life (arbitrary number given before treatment this figure is between 0 and 1 - 1 is a healthy life year) x Life expectancy

the equation is done before treatment and after treatment. The cost of treatment divided by the difference in number between two equations is QALY.

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16
Q

List investigations of Upper GI tract.

A

1- OGD
2- Nasal Gastroscopy
3- Endoscopic ultrasound

  • Barium swallow
  • Barium meal
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17
Q

List investigations for lower GI tract,

A
  • Colonoscopy
  • Flexible sigmoidoscopy
  • CT Pneumocolon
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18
Q

What is the most relevant investigation if you suspect Hepatopacnreaticobiliary issue?

A
  • ERCP
  • Endoscopic ultra sound
  • Abdominal Ultrasound
  • CT Abdomen
  • MRCP
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19
Q

What is the preparation for an Upper GI endoscopy (OGD)?

What are advantages?

A
  • Fasted (2hours for liquids, and 6 hours for solids)
  • Intravenous sedation (Midazolam +/- opiate if therapeutic)
  • Can eat 1-2 hours post procedure
  • Direct visualisation
  • Can take biopsy
  • high sensitivity and specificity

BUT
- risk of bleeding, perforation, over-sedation, aspiration and damage to teeth

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20
Q

How do use OGD to treat bleeding peptic ulcer?

A
  • Injection therapy with adrenaline
  • heater probe
  • Endoclips
  • Haemostats spray
  • over the scope clips
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21
Q

a) What is the presentation of Oesophageal Varices?

b) How do you treat it?

A

A)
Large volumes of dark blood, history of liver disease / hypertension

B)

  • Generalised BB to reduce venous pressure
  • Band ligation
22
Q

When do you use barium swallow?

A
  • Pharyngeal pouch (endoscopy maybe dangerous as it gets stuck in the pouches)
  • Achalasia (you rule out malignancy with this then use endoscopy)
  • Oesophageal spasms (nutcracker oesophagus)
23
Q

When would you use barium meal?

A

Only if person refusing to have upper OGD for dysphagia (but its not good m coz you cant take biopsies, and check otehr diseases)

24
Q

What is good about colonoscopies and upper endoscopies?

A
  • high sensitivity and specificity
  • can diagnose inflammation (so bleeding from below and diarrhoea indicating IBD should be utilising colonoscopy)
  • You can use for therapy with colonoscopy (remove polyps, and stenting)
25
Q

What are the advantages of ERCP?

A
  • You can remove duct stones

- Stenting (in cancers and and benign strictures)

26
Q

State the investigation:

1- Heart burn?
2- Dysphagia 
3- Odynophagia
4- Vomiting 
5- Regurgitation
6- Upper abdominal pain 
7- Vomiting blood
8- Passing altered blood pr
9- Weight loss
A 
1- OGD
2- OGD (BARIUM SWALLOW FIRST IF SUSPECT NEUROLOGICAL)
3- OGD
4- ODG (CONSIDER AXR/CT ABDOMEN IF FAECULENT)
5- OGD
6- OGD (+ US OR CT)
7- OGD
8- OGD
9- OGD (MAYBE CT TOO)
27
Q

What do you do after abnormal CT or barium swallow?

A
  • OGD
28
Q

What do you do if you notice anaemia?

A
  • OGD + Duodenal biopsies or coeliac antibodies + either colonoscopy or CT
29
Q

How do you confirm a diagnosis of coeliac?

A
  • OGD + duodenal biopsies
30
Q

Check for varices for a patient iwth cirrhosis?

A

OGD

31
Q

Investigation to follow-up barrets?

A

OGD

32
Q

Ix for chronic diarrhoea?-

A
  • Colonoscopy
33
Q

Ix for chronic constipation?

A
  • Flexible sigmoidoscopy
34
Q

Alternating bowel habit?

A
  • Colonoscopy
35
Q

Abdominal pain?

A

CT or ultrasound

36
Q

Incomplete evacuation?

A

Flexible sigmoidoscopy

37
Q

Fresh rectal bleeding?-

A

Flexible sigmoidoscopy

38
Q

What do you do if you get positive FOB/FIT ?

A

Colonoscopy

39
Q

Ix if jaundice?

A

USS First

40
Q

Upper abdominal pain/weightloss, fever?

A

USS First

41
Q

A) list risk factors for Colorectal cancer?

B) Presentations?

C) Investigations?

D) Treatment?

A

A) Age >50, Polyps in colon, FH (FAP, HNPCC), Ulcerative colitis

B)

  • Change in bowel habit
  • PR
  • Iron deficency anaemia
  • Weight loss/ loss of appetite
  • FH

C)

  • Colonoscopy
  • CT Colonogram
  • BOWEL SCREENIGN PROGRAM (every two years to all men and women aged 60-74)

D)

  • Surgery
  • Chemo
  • Radio (only rectal)
  • Palliative
42
Q

Describe some of the problems with population screening for cancer.

A
  1. The screening is designed for a population or a group which means that it doesn’t necessarily always serve /cater for individuals within those groups leading to ecological fallacy (used for decision makers when they look at data that is gathered about a group and infer information from that data about the individuals within that group - e.g. most of a certain group of students have brown hair, so you say that every single person in that group has brown hair. So this fallacy occurs in screening programs)
    1. Harms as a result of screening is another problem
    2. Inequalities
43
Q

What is the virus that causes all of the squamous cervical cancers ?

A

HPV (16 and 18)

44
Q

Who gets vaccinated against HPV?

6 and 8 cause genital warts

A
  • All boys and girls

- Men who have sex with men also get vaccinated (as it is also associated with oral, anal and penile cancers too)

45
Q

What test is done for screening and how is it performed?

A

▪ Faecal Immunochemical Test (FIT) - test looks for blood in your poo, to find bowel cancer at an early stage in people with no symptoms, and other changes in the bowel like pre-cancerous polyps which can be removed easily to avoid cancer developing.
▪ A kit is sent to the participant’s home. They simply need to unscrew the cap of the test, you dip the end of the stick into the bowel motion, then replace the stick in the tube and screw the lid shut

46
Q

What is the level for a positive test and what happens with a positive result?

A

▪ 80 or above will generate a letter to the participant referring them to their local NHS Board for a follow-up assessment for a colonoscopy

47
Q

What is the reason behind asking for FBC in someone presenting with changes in bowel habits?

A

▪ Check for anaemia and thrombocytosis (many platelets)

48
Q

If a colonoscopy confirms a cancer, what other investigations do you carry out?

A

▪ CT scan of the chest, abdomen and pelvis (to determine if there is any distant metastases)
▪ CEA level (Carcinoembryonic Antigen - a Tumour marker - CA 19-9 are tumour markers expressed by colorectal cancers) - only good following treatment to see if the tumour had reduced. Do not use to decide on follow-up or diagnosis.

49
Q

Define the following Terms:

  • Neo-Adjuvant therapy
  • Adjuvant Therapy
  • Chemoradiation
  • Palliative Chemotherapy
A

▪ Neo-Adjuvant therapy: Chemotherapy given before the surgery or radiotherapy to shrink the tumour
▪ Adjuvant Therapy: Chemotherapy given following surgery to help destroy any cancer cells remaining. The aim is to reduce the likelihood of
▪ Chemoradiation: Chemotherapy combined with radiotherapy
▪ Palliative Chemotherapy: if the cancer has spread to other parts of the body, the chemotherapy drugs carried in your blood stream can reach these cancer cells. The aim is to help relieve symptoms and slow the growth of the cancer

50
Q

What is the combination of drugs used for adjuvant chemotherapy following colectomy. List some SE’s.

A

▪ Capecitabine & Oxaliplatin (Together = CapOx)

SE: Infections, diarrhoea, cardiac toxicity and neuropathy**

Change in bowel habit (1 decks)

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