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RACP Written > Gastro > Flashcards

Gastro Flashcards

1
Q

What is a marker of Wilson’s disease?

A

Low ceruloplasmin. Also low ALP and raised copper in CSF.

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2
Q

What is the primary chelator therapy in Wilson’s disease?

A

Penicillamine

COPPER NEEDS THE BEST ANTIBIOTIC

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3
Q

How does zinc prevent copper buildup in Wilson’s?

A

Induction of intestinal cell metallothionein (Mt), which blocks copper absorption from the intestinal tract

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4
Q

How does phototherapy work?

A

Structural isomeration into lumirubin which can be more easily excreted in bile.

Bilirubin LUMINATES like light

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5
Q

Which duct joins pancrectic duct to form ampulla of vater

A

Common bile duct

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6
Q

Which cells line the epithelium?

A

Stratified squamous

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7
Q

What is the normal oesophageal epithelium changed to in Barrett’s oesephagus?

A

Coloumnar cells

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8
Q

What nerve supplies the upper 2/3 of the oesophagus?

A

vagus nerve

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9
Q

What nerve supplies the lower 1/3 of oesophagus?

A

Splanchnic

Oesophagus supplied overall by vagus, but with sympathetic input from thoracic chain

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10
Q

Difference between gastrochisis and omphalocele? Which one is worse?

A

Gastrochesis: abdominal contacts get through the abdominal wall and into the uterine cavity. GOOD PROGNOSUS.
Omphalocele: abdominal contents remain in umbilicial viscera- 25% mortality because failure of reintegration.

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11
Q

What other abnormalities is an omphalocele associated with>

A

cardiac anomalies and neural tube defects

Which is why it has worse prognosis than Gastrochesis

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12
Q

What is the process of conversion from unconjugated bilirubin to conjugated bili?

A

Glucoronidation

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13
Q

What do chief cells in the gut produce?

A

Pepsin.
Chief Pepsi

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14
Q

What do paritetal cells produce

A

Gastric acid and intrinsic factor

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15
Q

What stimulates gastric acid production? (3 things)

A

Vagus (senses stretch of the stomach), gastrin and histamine (H2 receptors on parietal cells)

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16
Q

What inhibits gastric acid secretion?

A

High acid, nausea and sympathetics

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17
Q

Where is B12 absorbed in the gut?

A

Ileum. But MUST be combined with intrinsic factor

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18
Q

What are 3 monosaccharides?

A

Glucose, fructose and galactose

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19
Q

What are 3 dissacharides

A

Lactose, sucrose, isomaltose

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20
Q

Which monosachharides are absorbed via active transprot in the gut

A

Glucose and galactose

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21
Q

What has more breakdown action? Oral lipase or pancreatic enzymes?

A

Pancreatic enzymes. Minimal breakdown from oral lipase

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22
Q

How does ascorbic acid improve iron absorption?

A

Reduces Fe3+ to Fe2+ which is the more absorbable form

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23
Q

What transporter is incharge of glucose and galactose absorption? What is the co-transporter?

A

GLUT1 and 2. Na is the co-transporter

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24
Q

How is fructose transported in gut

A

Facilitated difficusion via GLUT but WITHOUT na, not as efficient

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25
Q

What antibiotic reduces folate abs

A

Trimethoprim (and hence also Bactrim)

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26
Q

What does zinc deficiency present with

A

Periorofacial dermatitis, reduced immunity, diarrhoea.
Also rash around anus with alopecia

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27
Q

How many calories in 1g of fat/carb/protein?

A

FAT= 9
CARB = 4
PROTEIN = 4

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28
Q

What B vitamin is Thiamine?

A

B1

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29
Q

What B vitamin in Riboflavin?

A

B2

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30
Q

What B vitamin is pyroxidine?

A

B6

Remember deficiency can cause intractable seizures in neonates

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31
Q

What B vitamin is folate?

A

B9

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32
Q

What B vitamin is folate?

A

B9

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33
Q

What does Vit E defieicny present with?

A

Ataxia, peripheral neuropathy, retinitis pigmentosa

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34
Q

What are 3 absolute contraindications for BF

A

HIV/HTLV1 , Maternal TB (until 2 weeks of therapy completed) and SCID in child

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35
Q

How many calories per 100ml of breast milk vs formula?

A

70 in breast milk and 65 in term formula
(Note 80 in preterm formula)

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36
Q

When does infant reflux peak?

A

4 months

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37
Q

What are investigations for suspected GORD in an infant/child with GORD?

A

Barium swallow- shows achalasia, strictures, hiatus hernia, gastric outlet, SI obstruction
Oesophageal pH probe
LTB- assess reflux damage of airways
PPI trial

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38
Q

What is achalasia

A

Achalasia results from damage to nerves in the food tube (oesophagus), preventing the oesophagus from squeezing food into the stomach.
Beak sign in oesophagus because part before that is acahalsed is dilated ++

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39
Q

Why cant you use iodine therapy in kids with Graves who have exopthalmos?

A

Makes eye disease worse
Need to use ablation or removal

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40
Q

Difference between MEN 2A and 2B?

A

2B does NOT have PTH effects
(2B or NOT 2B)

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41
Q

What is the indication for fundoplication in kids?

A

in strictures or airway disease

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42
Q

What is a known complication of chronic GORD

A

Barrets oeseophagus
Conversion from squamous to coloumnar epithelium.
Also laryngospasm in babies- due to reflux and can cause apnoeas

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43
Q

What is the classic presentation for EOE in kids?

A

Solid food dysphagia
Babies will have vomiting, feed issues, poor weight gain

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44
Q

Physiology behind EoE?

A

TH2 helper cells type 2 cytokine pathway
Produce eotaxin which is a potent eosinophil chemoattractant

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45
Q

What will show on bloods AND histology for EOE

A

Bloods: high IgE and eosinophils
Histology: >15 eosinophils per hi power field

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46
Q

Treatment for EOE

A

Budesonide- inhaled steroids
If resistant, can go to Omaluzimab

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47
Q

What TYPE of TOF is the most common? (tracheo-oesophageal fistula)

A

Type C
Essentially blind ended oesophagus from the top. Then connection from trachea halfway down.

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48
Q

Common cause of tracheooesophageal fistula? 2 associated syndromes?

A

Abnormal budding from the foregut
50% idiopathic and others syndromic-VACTERYL. Also charge

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49
Q

Investigation findings for Tracheooesophagel fistula?

A

cannot pass NG, no gastric bubble on CXR or gastroscopy findings.

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50
Q

Treatment for tracheooesophageal fistula

A

Maintain airway and decompress oesophageal pouch.
Usually primary repair but if unable then PEG

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51
Q

What is a vascular ring and what is the key finding on barium swallow

A

Abnormal origin of aorta/pulm vessels that can compress oesophagus or trachea.
Visible on barium swallow- can see indentation

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52
Q

What cancer is commonly associated with H Pylori

A

MALT LYMPHOMA
individuals infected with H. pylori have an increased risk of gastric adenocarcinoma. Studies have also shown that individuals infected with H. pylori have an increased risk of gastric mucosa-associated lymphoid tissue (MALT) lymphoma, a rare cancer of the stomach. Gastric MALT lymphoma is frequently associated (72-98%) with chronic inflammation as a result of the presence of H.pylori.

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53
Q

What are some associations with Coeliac disease or features suggestive of Coeliac?
(NAPHSGAN something…)

A

Dermatitis herpetiformis
Dental enamel hypoplasia of permanent teeth
Oesteopenia/osteoporosis
Short stature
Delayed puberty
Iron deficiency anaemia not responding to oral iron.

NOT hepatitis

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54
Q

What is seen on the microscope for H.Pylori?

A

Gram negative shaped rod

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55
Q

Treatment for peptic ulcer disease?

A

High dose PPI
Octreotide- inhibits gastrin!

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56
Q

What is the mechanism of Octreotide?
Name the 5 hormones it inhibits

A

Somatostatin analouge, leads to inhibition of gastrin. ALso inhibits CCK, GH, TSH and Prolactin
Also periportal smooth vessel constrictor

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57
Q

What is the first line triple therapy for H.Pylori

A

Amox, clarithromycin, PPI

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58
Q

What is Zollinger Ellison syndrome
What are 3 syndromes that increase the risk of this?

A

rare syndrome. Excess gastrin gastrin secretion by a gastrinoma.
NEUROENDOCRINE TUMOUR
Predisposition common in MEN1, mild increase in neurofibromatosis and TS

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59
Q

What happens to the villi in coeliac?

A

Inflammation leading to absorption of nutrients. Villous blunting.

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60
Q

What HLA mutation causes coeliac?

A

HLA DQ2 and 8
If both tests negative, very unlikely.

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61
Q

What is the pathophysiology of coeliac disease?

A

Incomplete degradation of gliadin–> immunostimulation–> activation of innate immunity –> T cell activation.

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62
Q

What are 3 grains that contain gluten?

A

wheat, rye and barley
OATS dont have gluten but a simialr protein

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63
Q

What is dermatitis hepatiformis? What is the common disease assocaited with that?

A

itchy papular vesicualr rash on extensor surfaces.
FROM CIRCULATING IGA
Associated with coelaic

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64
Q

What is the diagnostic test for coeliac?

A

anti-tissue transglutaminase (anti-TTG). Inaccurate if low IgA level, or if off gluten. If low IgA, test IgG
Anti-gliadin useless.
EMA= testing AFTER anti-TTG positive and very good but $$.
Biopsy only if anti-TTG <10x normal.

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65
Q

What is the most sensitive test for coeliac?

A

Endomysial antibodies (EMA) but variable specificity and expensive

Anti-TTG most specific, RULE IN

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66
Q

What are the three SYNDROMES associated with coeliac? (ie that increase the risk of coeliac)

A

Downs (10%)
Turners (5%)
Williams (5%)

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67
Q

What do you do if HLA DQ2 or 8 positive but no symptoms of coeliac?

A

Yearly serology

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68
Q

In neonates, what does malrotation with volvulus cause?

A

Acute billious vomiting, abdominal distenion with bloody diarrhoea
Duodenum in RLQ

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69
Q

What is a Meckel’s diverticulum? What does it present with?

A

gastric mucosa outside of the stomach, embryological remnant.
Painless occult PR bleeding

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70
Q

What is the rule of 2s with meckels

A

2% of ppn
By age 2
2x more common in males
2inches long
2feet of ileocaecal valve

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71
Q

What is juvenile polyposis syndrome

A

Multiple haemartomas in GI tract. Ulcerated polyps ==> GI bleed
ALSO increase cancer risk

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72
Q

What is the mutation assocaited with juvenile polyposis syndrome

A

SMAD4
JuvenileS are MAD 4 each other

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73
Q

Why is the rotavirus vaccine given <3mo kids?

A

To reduce risk of intussuception

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74
Q

How long can a rotavirus illness last for>

A

2 weeks

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75
Q

Name 3 bacteria that cause gastroenteritis

A

Campylobacter, Ecoli (STEC, ETEC), Shigella, Salmonella, Cholera, Yersinia (Iron related)

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76
Q

What is encoparesis?

A

Soiling

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77
Q

What is the risk of IBD if first degree relative has it?

A

10-20%

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78
Q

What percentage of kids with IBD have extraintestinal manifestations?

A

25%

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79
Q

Which condition is associated with sclerosing cholangitis

A

Ulceratvie colitis

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80
Q

What two liver infections are associated with IBD?

A

Pyogenic liver abscess and hepatitis reactivation.
All due to immunosuppression.

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81
Q

What is toxic megacolon and which IBD is it more common with?

A

Non obstructive colonic dilation plus systemic toxicity due to severe inflammation of smooth muscle layer
MORE WITH UC than CHROHNS

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82
Q

What are the symptoms or presentation of toxic megacolon

A

Fever >38, HR >120, hypotension, anaemia, dilatation >6cm

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83
Q

Which IBD has pyoderma gangrenosum

A

UC
-GangrenosUm = UC
ULCERS on mouth and skin

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84
Q

Which IBD has erythema nordosum

A

Crohn’s disease.
Painful red lesions on the shinsW

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85
Q

When is faecal calprotectin not useful

A

Used to differentiate inflamamtory and non-inflammatory cause.
Not accurate if loose stools/bloody stools/gastro

86
Q

Which IBD causes thrombosis

A

UC

87
Q

Which IBD is more likely to have strictures, fistulas, fissues

A

Chrons

88
Q

Where is the most common site for chrohns

A

ileocolic
-CROHNs- COLIC

89
Q

Which IBD is more commonly associated with extra intestinal manfestations?

A

Crohns

90
Q

What is the induction therapy for Crohns disease

A
  1. EXCLUSIVE enteral nutrition- only polymeric diet. Has greater mucosal healing.
  2. Steroids- taper over 6-8 weeks. Poor mucosal healing.
91
Q

What is the maintenance therapy for Chrohns disease

A
  1. Azathiprine or MTX
  2. Biologics- adalumimab, infliximab
92
Q

What is the most significant risk factor when commencing Infliximab

A

TB reactivation

93
Q

What are the drugs of choice for UC?

A

5-ASA.
MEsalamine or Sulfasalazine.
Metabolised by liver

94
Q

Which two syndromes have increased risk of IBD?

A

Turners
GLycogen storage type 1B- this one has abnormal fat pads!

95
Q

Is there any role of EEN or Methotrexate in UC?

A

NO

96
Q

When does pyloric stenosis present?
What is the classic presentations

A

3-4 weeks.
Vomiting post each feed and HUNGRY after each feed

97
Q

Examination finding for pyloric stenosis

A

olive shaped mass mid epigastrium.
OLIVES cause STENOSIS

98
Q

What is the name of the operation to fix pyloric stenosis

A

Polymyotomy

99
Q

How does antral webbing or pyloric atresia present

A

Non billious vomiting from day1
Kids usually polyhydramnios

100
Q

How does duodenal atresia present

A

Billious vomiting from day 1 of life.
Can have green inutero fluid.

101
Q

Which genetic mutation is assocaited with familial pancreatitis?

A

PRSS1 mutations are present in 80% of patients with autosomal dominant hereditary pancreatiti

102
Q

In terms of LKM, ANA and SMA- which is more common in Type 1 bs Type 2 autoimmune hepatitis

A

LKM positivity is suggestive of Type 2 AIH, whereas ANA and SMA is suggestive of Type 1.

103
Q

Which has lower rates of relapse? Type 1 or tpe 2 Autommune hepatitis?

A

Type 1

104
Q

What type of foods should be stopped in patients wth chylothorax?

A

Long chain trigliceride

105
Q

What mutation is associated with Alagaila syndrome?

A

JAG1
A for Anna, JAG

106
Q

How does infliximab work

A

anti-TNFalpha- BINDS To TNF alpha so it cant cause autoimmune probs

107
Q

What is Diencephalic syndrome and what is the most striking feature on presentation?

A

a rare cause of failure to thrive in infants and young children. It is associated with neoplastic lesions of the hypothalamic-optic chiasmatic region.
striking absence of subcutaneous adipose tissue.

108
Q

Which disease will have biopsy significant for paucity of interlobular bile ducts.

A

Alagile

109
Q

Which will show moderate steatosis with mild inflammation but without ballooning injury or fibrosis

A

NAFLD

110
Q

Which disease shows peribiliary fibrosis, ductular proliferation, bile duct plugs

A

Bilitary atresia

111
Q

Which anti-epileptic causes pancreatitis

A

Sodium valproate

112
Q

Main pathophys behind malrotation volvulus?

A

Essentially in the name.
Caecum fails to rotate so you have SI on the right and LI on the left–> greater mobilty of the bowel and increased risk of twisting.

113
Q

What are three things a malrotation is assocaited with?

A

Diaphragmatic hernia
gastrochesis
Omphalocele

114
Q

Presentation of malrotation volvulus

A

Billious vomiting

115
Q

Scan for Meckels?

A

Technitium-99

116
Q

What is the most common cause of lower intestinal obstruction in neonates?

A

Hirschsprungs disease

117
Q

What is Joubert syndrome? What is the classical radiological sign?

A

rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis

MOLAR tooth on the CT.
Jou-BEAR syndrome, bears have big teeth

118
Q

Pathophys of hirschsprungs disease

A

Bowel hypertonicity due to absence of ganglionic cells in submucosa and mesenteric plexus.

119
Q

Where is the most common location to be affected by Hirshsprungs

A

Rectosigmoid in 80%

120
Q

Presentation of Hirchsprungs

A

Delayed passage of mec, not for 48 hours. PR may cause explosion of foul smelling gas and faeces.
Delayed diagnosis leads to enterocolitis.

ALso will have billios vomiting and feed intolerace

121
Q

Diagnosis of Hirschsprungs?

A

Rectal suction biopsy: 2cm from dentate line to look for ganglionic cells.
Also contrast enema which shows small rectum and dilation sigmoid

122
Q

Treatment for hirshsprungs

A

surgery.
Long term complications are consitpatin, recurrent enterocolitis, stricture, prolapse

123
Q

What is a cloacae?

A

Common outlet for faeces and urine. Part of anorectal malformations.

124
Q

What is the pathophys in refeeding syndrome?

A

Body is used to running on catabolic state (Low insulin but gluconeogenesis). So when you increase glucose, there will be DROP in glucagon leading to cell glucose uptake and shift of phosphate, K and Mg to make ATP

125
Q

What are the electrolyte abnormalities in refeeding syndrome

A

Low PO4
Low Mg, K
Plus/minus hyperglycemia

126
Q

What are ABSOLUTE indications to commence TPN

A

NEC
Extensive burns and/or severe trauma
Short gut –> malabs of all nutrients

127
Q

What is a complications of long term TPN and what condition is it most commonly associated with?

A

Liver disease, due to high lipid or dextrose in PN.
Commonly seen in short gut because they need the longest time for TPN

128
Q

What are 3 polyposis syndromes?

A

FAP- 100% cancer risk. AD
Lynch syndrome
Gardner syndrome- polyps but in the small bowel. Also 100% cancer risk

129
Q

What are 3 polyposis syndromes?

A

FAP- 100% cancer risk. AD
Lynch syndrome
Gardner syndrome- polyps but in the small bowel. Also 100% cancer risk

130
Q

What is the difference between juvenile polyposis syndrome and peutz jegher syndrome

A

Both have hamartomous polyps but Peutz Jegher has ococcutaneous melanin spots

131
Q

Which syndrome has orocutaneous melanin spots

A

Petuz Jegher

132
Q

What does Peutz Jegher commonly present with and what is the associated gene

A

Intussuception and LKB1

Luc Ky Bean 1 causes intussceotion in Peutz Jegher

133
Q

What is Cowden’s syndrome

A

Also harmatomatous polyps with PTEN mutation. Not associated with colon cancer but macrocephaly
breast/thyroid and endometrial cancers

Cow has 10 haemartomas which can cause cancer

134
Q

What is inheritance for congenital chloride diarrhoea?

A

Autosomal recessive

135
Q

What is present in the stool in osmotic diarrhoea?

A

Reducing substances (because cant absorb the glucose), low pH, low Cl and sodium in OSMOTIC
Think water has been sucked into the gut

136
Q

What is intestinal lymphandiectasia

A

Abnormal lymph vessels/blockage

137
Q

What does intestinal lymphagiectasia present with

A

Protein losing enteropathy so reduced lymphocytes, protein and gammaglobulin. Also loss of calcium and magnesium.

138
Q

What will be present in the stools for intestinal lymphangiectasia

A

fat globules

139
Q

What is acrodermatiti enropathica

A

Problem with zinc transporter so presents with zinc deficiency and all the related issues

140
Q

What two syndromes present with hypochloremic, hypokalemic metabolic acidosis
(Think gut pathology, not vomiting)

A

Barter and congenital chloride diarrhoea.

141
Q

Which two markers in LFTs are indicative of hepatcellualr damange

A

AST and ALT

142
Q

In kids, what does a high AST:ALT ration mean?

A

Marker of muscle injury

143
Q

In the setting of liver disease, what is low ALP a marker of

A

Wilson dsiease

144
Q

What is the single most common paediatric disease laeding to liver transplant?

A

Biliary atresia

145
Q

What is the pathophys for biliary atresia?

A

Progressice, INFLAMMATORY cholangiopathy leading to obliteration of extrahepatic bile ducts.
Good pic in notes.

146
Q

Presentation of biliary atresia?

A

Usually okay until 4-6 weeks of age and then present with hyper bilirubinaemia, pale stools and dark urine.

147
Q

Treatment for Biliary atresia? Surgical and medcial

A

Kasai procedure (within 60 days) and then transplant.
Medical: optimise nutrition, fat soluble vitamin supplement, treat cholangitis etc.

148
Q

What do biliary cysts present with?

A

jaundice, abdominal pain, mass and vomiting. can present outside the neonatal period

149
Q

Inheritance for alagile syndrome

A

Autosomal dominant

150
Q

Mutation for Alagile

A

JAG1 or NOTCH 2
ALAGILE IS a JAGGED NOTCH

151
Q

Common cardiac anomaly associated with Alagile?

A

Pulmonary artery stenosis

152
Q

What is the pathophys for alagile

A

paucity of interlobar bile ducts

153
Q

Other abnormalities assocaited with Alagile (apart from cholestasis)

A

bony abnormalities, eye problems, cardiac (PULMONARY ARTERY STENOSIS), renal dysplasia, butterlfy vertebrae

THINK Midline- skull, eyes, heart, kidneys, spine

154
Q

What is the most common GENETIC cause of neonatal liver siease

A

Alpha 1 antitripsin def

155
Q

Inheritance for alpha 1 antitrypsin

A

aut recessive

156
Q

What other system does alpha 1 antitrypsin affect

A

lung

157
Q

WHICH type of gene mutation in Alpha one antitrypsin causes liver disease?
Name the gene and also the mutation subtype

A

SERPINA gene affected, and PiZZ type that causes misfolded proteins which get stuck in the liver and cause cirrhosis.
Good image and explanation in notes

158
Q

What is on liver histology in Alpha 1 antitrupsin

A

PAS+
Alpha 1 antitrypsin must PAS off as a POSITIVE vibe

159
Q

Specific mutation in Wilsons?

A

ATP7B - this is the transporter for copper

Wilson is a guy who needs lots of energy (ATP) and goes up 7 stairs

160
Q

What is intestinal failure assocaited liver disease?

A

Essentially liver disease from long term TPN due to short gut. Worsened by excess dextrose of lipids in TPN

161
Q

What is Gilbert’s syndrome?

A

Genetic defect at UGT1A1 gene which encodes for glucorynyl transferase –> lower transcriptional rates and overall educed enzyme activity.
ONLY unconjugated bili rise.

162
Q

What is Criggler Najjar syndrome? How does it present?

A

Mutation in MULTIPLE spots on UGT1A1 gene leading to mildly dysfunctional proteins. Severe unconjugated hyper ilirubinaemia&raquo_space; kernicterus and bili deposition in the brain

163
Q

What is the most important thing to rule out with conjugated hyperbili?

A

Biliary atresia

164
Q

What are two METABOLIC causes of neonatal liver failure (common ones)

A

Galactossemia and tyrosinaemia

165
Q

What is the most common cause of neonatal haemachromatosis

A

gestational alloimmune liver disease

166
Q

Pathophys of gestational alloimmune liver disease?

A

Transplacental reactive IgG–> complement cascade–> MAC attack complex and fetal liver injury.

No clear trigger but it is the most common cause of neonatal haemachromatosis

167
Q

Presentation of gestational alloimmune liver disease?

A

severe liver failure, coagulopathy, ascites and reduced albumin

168
Q

When do majority of autoimmune hepatitis present?

A

During adolescence with chronic hepatitis

169
Q

What are conditions associated with autoimmune hepatitis

A

other autoimmune conditions ie coeliac, thyroid, diabetes, addisons

170
Q

What is Hep E antigen a marker of?

A

High rates of replication and infectivity. Used as a marker for treatment response.

171
Q

What is Hep B core antibody a marker of

A

Prev infection, past or current

172
Q

What is Hep B surface antibody a marker of

A

demonstrates immunity- through vaccination or infection

173
Q

What is Hep B surface antigen a marker of

A

demonstrates active infection - acute or chronic

174
Q

What condition is primary sclerosing cholangitis assocaited with

A

UC

175
Q

What is the long term risk of primary sclerosing cholangitis

A

Cholangiocarcinoma

176
Q

What is characteristic of the prothrombin time in acute liver failure

A

ELEVATED PT not corrected by Vitamin K

177
Q

What dose/kg/day of paracetamol is TOXIC

A

> 200mg/kg/day

178
Q

When should a serum paracetamol level be obtained?

A

Depends on presentation.
If presents within 8 hours, then test at 4 hours post ingestion. Anyting after 8 hours test immediately

179
Q

Is activated charcoal useful in paracetamol OD?

A

Only if patient is awake and willing to take it
Charcoal only really indicated in Clonidine OD

180
Q

What should you do if a patient with paracetamol OD presents 8 hours post ingestion?

A

Start NAC

181
Q

Post ingestion of paracetamol OD, what is the time frame in which a patient can progress to liver failure>

A

2-4 days

182
Q

How does NAC work?

A

NAC repletes glutathione reserves by providing cysteine, which is an essential precursor in glutathione production. NAC by itself also binds to the toxic metabolites and scavenges free radicals. I

183
Q

Once NAC infusion is started, when should repeat bloods be taken

A

2 hours before the end of the infusion

184
Q

How is paracetamol normally metabolised in liver?

A

Multiple enzymes.
Mostly through glucorodination and sulfation but some goes through CYP450 pathway which produces toxic metabolites which are digested by glutathione.
SO WHEN +++ paracetamol, a lot more digested by CYP 450= glutathione used up so NAC makes more

185
Q

Mode of inheritance for Gilbers

A

AR

186
Q

What is faecal elastase a measure of

A

Pancreatic exocrine fn

187
Q

Where is the majority of FAT breakdown? Which hormones are responsible?

A

Lipase. Minimal from oral lipase so most from pancreas

188
Q

What enzyme involved in CARB breakdown?

A

Amylase. salivary and pancreatic. Salivary= decent function

189
Q

What enzyme is involved in protein metabolism

A

Pepsin in stomach an then thrypsi/chemotrypsin (activated forms) in intestines

P for Pepsin, P for protein.

190
Q

3 drugs that cause pancreatitis (hint they are alll chemo drugs)

A

Asparignase (A- PancreAtitis)
Mercaptopurine
Azathioprine

191
Q

What do alpha, beta and delta cells make in pancreas?

A

Alpha- glucagon
beta- insulin
Delta-Somatostatin, ‘Do Grow’

192
Q

What is the difference between type 1 and type 2 autoimmune pancreatitis

A

Type 1- Elevated IgG and radiographic evidence of extrapancreatic invovlement. Ie Rhuematoid,PSC, IBD

Type2: no IgG but associated with IBD

193
Q

What two factors determine what is filtered through the GM?

A

Charge and size

194
Q

Which condition has the highest number of secondary infections?

A

Measles (18)
COVID is 5-8

195
Q

What is NOD2 assocaited with?

A

Crohn’s disease. Increased risk.

Give a ‘Nod 2 crohn’ as you walk past

196
Q

What is the difference between Atomoxatine and methylphenidate?

A

Atomoxetine= SNRI only
Methylphenidate= Norad and dopamine re uptake inhibitor

197
Q

What two factors cause a falsely LOW HbA1c?

A

Haemolytic anaemia (ie spherocytossi) and CF
Think that’s why we only do OGTT for testing for diabetes in CF

198
Q

What causes a falsely elevated HbA1c

A

IDA

199
Q

What do gamma and epsilon cells in the pancreas produce?

A

Gamma= gastrin
Epislon= ghrelin

GAmma= GAstrin

200
Q

What is B MODY treated with?

A

So IN GENERAL, all alpha can be treated with Sulfonylurea and beta can be treated with insulin

201
Q

Where is the problem duirng development for 22q11

A

3 and 4 parayngeal pouches
YOU CAN CATCH 22q11 in 3 and 4 pouches

202
Q

What is Mepolizimab

A

Monoclonal antibody for asthma, anti-IL5.
The other is Omalizumab which is IgE

203
Q

What is the way to maximise urinary excretion of aspirin

A

Urinary alkalysation

204
Q

Carrier rate for SMA

A

1/50

205
Q

What is protein Filgrin associated with

A

Eczema

206
Q

What is orofacial granulomatosis and what other disease is it associated with

A

clinical term describing orofacial swelling caused by non-caseating granulomatous inflammation in the absence of systemic disease
Associated with Crohn’s disease

207
Q

What is a cause for atypical HUS

A

Complement

208
Q

Target antigen for ANCA

A

Catalase
ANC- Catalase - A

209
Q

Syndrome that combines an impaired sense of smell with a hormonal disorder that delays or prevents puberty.

A

Kallmann syndrome

210
Q

Most common cause of PR bleeding >2yo

A

Juvenile polyps, occur in first decade.

211
Q

What age group do you see polyps from Cowden’s syndrome?

A

second decade
(remember PTEN syndrome, 10 polyps on a cow)

212
Q

Treatment of perianal crohns disease?

A

Metronidazole and then add in immunomodulators (MTX, Asathioprine) OR infliximab.

RACP Written (18 decks)

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