Gastroenterology and Nutrition Flashcards

1
Q

What is the nutritional intake required for full term infants?

A

100kcal/kg/day to grow

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2
Q

What is. the nutritional intake required for preterm infants?

A

140kcal/kg/day to grow

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3
Q

What are the main components of breast milk?

A

Carbohydrate - Lactulose
Protein - alpha-lactalbumin
Fat - Arachidonic acids (ARA) and docosahexaenoic acid (DHA)

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4
Q

What are the absolute contraindications to breast feeding?

A

HIV
Acute TB infection - until completion of approx. 2 weeks of appropriate Tx
Infants with classic galactosaemia

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5
Q

What is vitamin B1 also known as?

A

Thiamine

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6
Q

What is vitamin B1 (Thiamine) found in?

A

Yeast, legumes, meat, milk and vegetables

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7
Q

What are the symptoms of thiamine (vitamin B1) deficiency in children?

A

Infantile Beriberi disease
- Absence of deep tendon reflexes
- Congestive heart failure
- Neuritis
- Hoarseness/ aphonia

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8
Q

What are the symptoms of thiamine (vitamin B1) deficiency in adults?

A

Wernicke Korsakoff syndrome
- Encephalopathy
- Confusion
- Ataxia
- Nystagmus

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9
Q

What is vitamin B2 also known as?

A

Riboflavin

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10
Q

What are the symptoms of vitamin B2 (riboflavin) deficiency?

A

Angular stomatitis
Glossitis
Keratitis
Photophobia

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11
Q

What are the symptoms of Vitamin B3 (niacin) deficiency?

A

Pellagra
- Dermatitis
- Diarrhoea
- Dementia

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12
Q

What is the vitamin B3 also known as?

A

Niacin

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13
Q

What is vitamin B6 also known as?

A

Pyridoxine

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14
Q

What are the symptoms of vitamin B6 (pyridoxine) deficiency?

A

Microcytic anaemia
Refarctory seizures in infancy
Sensory neuropathy
Dermatitis

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15
Q

What deficiency are vegans most at risk of?

A

Vitamin B12 (cobalamin) deficiency

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16
Q

What is vitamin B12 also known as?

A

Cobalamin

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17
Q

What are the common causes of vitamin B12 deficiency?

A

Removal of the ilium
Crohns disease
Strict vegans
Pernicious anaemia
Breast fed infants who are exclusively breast fed to a mother who is B12 deficient

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18
Q

What are the clinical features of vitamin B12 deficiency?

A

Megaloblastic anaemia
Paraesthesia
Vitiligo
Fatigue
Hypersegmentation of neutrophils

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19
Q

What are the common causes of folic acid deficiency?

A

Goat milk intake
Crohns disease
Sickle cell anaemia
Malignancy
Drugs - phenytoin + methotrexate

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20
Q

What are the symptoms of folic acid deficiency?

A

Megaloblastic anaemia
Hypersegmentation of the neutrophils
Glossitis
Growth retardation

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21
Q

When treating folate deficiency, which other vitamin is it important to have first replaced?

A

Vitamin B12

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22
Q

What are the clinical symptoms of vitamin C deficiency?

A

Gingivitis
Purpura
Poor wound healing
Bleeding into joints and under skin

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23
Q

What are the fat soluble vitamins?

A

A, D, E, K

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24
Q

What are the two requirements for absorption of fat soluble vitamins?

A

Surface area - i.e patients with short bowel syndrome may struggle to absorb fat soluble vitamins

Enzymes - deficiency of pancreatic enzymes or bile salts can make fat soluble vitamins unable to absorb

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25
Q

What are the main symptoms of vitamin A deficiency?

A

Nyctalopia - i.e. poor night vision - usually the first symptom

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26
Q

What is the alternative name for vitamin E?

A

Tocopherol

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27
Q

How does vitamin E deficiency present?

A

Hyporeflexia/ areflexia
Ataxia
Loss of proprioception/ vibratory sense

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28
Q

What are the endoscopic features of coeliac disease?

A
  • Subtotal or complete villous atrophy
  • Crypt hypertrophy
  • Intraepithelial lymphocytosis
  • Lamina propria plasma cell infiltrate
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29
Q

What is the most common type of tracheo-eosophageal fistula?

A

Type C (distal TOF with oesophageal atresia)

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30
Q

What is the difference between the cell wall of a gram positive organism vs a gran negative organism?

A

Gram positive organisms lack lipopolysaccharides

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31
Q

Which conditions is HLA-B8 positive in?

A

Coeliac disease
Hodgkins lymphoma
Graves disease
Chronic hepatitis

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32
Q

Which condition is HLA-A3 positive in?

A

Myasthenia Gravis

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33
Q

Which condition is HLA-DRB positive in?

A

Ulcerative Colitis

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34
Q

Which condition is HLA-B27 positive in?

A

Ankylosing Spondylitis
Psoriatic arthritis
Juvenile arthritis

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35
Q

Which condition is HLA-DR4 positive in?

A

T1DM
Rheumatoid arthritis
Pemphigus Vulgaris

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36
Q

What are the blood findings in pyloric stenosis?

A

Hypochloraemic, hypokalaemic metabolic alkalosis

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37
Q

What are the symptoms of zinc deficiency?

A

FTT
Alopecia
Diarrhoea
Dermatitis
Frequent infections - due to T-cell dysfunction
Loss of taste

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38
Q

What is acrodermatitis enteropathica?

A

Autosomal recessive defect in zinc transport (very rare)

Present after weaning from breast feeding

Presents with aural dermatitis - dermatitis around the mouth and anus
+ alopecia

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39
Q

What are the symptoms of copper deficiency?

A

Flaring of long bone metaphysis
Microcytic anaemia
Perioesteal elevations
Fractures

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40
Q

What is Menkes Kinky Hair Syndrome?

A

X-linked recessive defect in copper transport ATPase

Symptoms:
- Growth retardation
- Kinky, friable, colourless hair
- Cerebellar degeneration
- Early death if not treated in the first 3 years

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41
Q

What findings will be seen on the bloods in menkes kinky hair syndrome?

A

Low serum copper
Low serum ceruloplasmin

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42
Q

What are the symptoms of biotin deficiency?

A

Alopecia
Dermatitis
Hypotonia
Hyperesthesia

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43
Q

What is carotenemia?

A

Caused by the excessive intake of yellow vegetables (e.g. carrots) |

Presents with yellow skin and nose, normal coloured sclera

Mx - reassurance

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44
Q

Describe the pathophysiology of refeeding syndrome?

A

Commence sudden feeding which increases insulin and increases glycogen, fat and protein synthesis

This synthesis depletes the phosphate, Mg2+ and K+ stores which are already depleted due to malnutrition

The liver then makes carbohydrates which consumes ATP in the red cells which causes cellular dysfunction leading to hypoxia of organs and hence organ failure

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45
Q

Which protein is elevated in acute appendicitis?

A

Serum amyloid A

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46
Q

When does volvulus typically present?

A

Before the first year of life

However can occur at any time

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47
Q

What are the symptoms of volvulus?

A

Pain
Vomiting - bile stained
Abdominal distension
Rectal bleeding is a late sign - due to poor vascular supply to the bowel

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48
Q

What are the investigations for volvulus?

A

Upper GI with contrast - primary test

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49
Q

What is the most common site of intussuception?

A

Junction of the ileum and colon (where the ileum is pulled into the colon)

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50
Q

What is the clinical presentation of intussuception?

A

Abdominal pain - periumbilical region, right lower quadrant
Lethargy is out of proportion to abdominal pain
Vomiting (can be bilious)
Pallor
Red currant jelly stool - late presentation
Sausage shaped mass may be palpable

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51
Q

How is intussuception diagnosed?

A

USS - test of choice
Air contrast enema

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52
Q

What sign is seen on USS in intusseception?

A

Doughnut sign/ target lesion on USS

53
Q

What is the most common cause of acute pancreatitis in children?

A

Abdominal trauma - blunt trauma e.g handbar injuries

54
Q

What is the most common type of TOF?

A

Oesophageal atresia with distal tracheoesophageal fistula

55
Q

What is the rarest type of TOF (which is commonly missed)?

A

H type of TOF

Can pass an NG tube but there is a connection between the oesophagus and the trachea - tends to present later in life with wheeze/ pneumonia

56
Q

What is Sandifier syndrome?

A

Arching of the back secondary to GORD - can be mistaken for a seizure

57
Q

How long should a PPI be used for in GORD to assess if it has worked?

A

4 weeks

58
Q

What are the side effects of metoclopromide?

A

Dystonic reactions
Lethargy and irritability
Gynaecomastia
Permanent tardive dyskinesia

59
Q

What effect can erythromycin have on cardiac function?

A

Prolonged QT interval

60
Q

What is eosinophilic oesophagitis?

A

Oesophageal epithelium is infiltrated with eosinophils

61
Q

What are the symptoms of eosinophilic oesophagitis?

A

Vomiting
Chest pain
Epigastric pain
Dysphagia
Food impaction - stricture - EE should be suspected in adolescents with a new onset of food impaction
Ineffective anti-reflexu therapy

62
Q

How is EE diagnosed?

A

Endoscopy is the mainstay of diagnosis
- Peripheral eosinophilia
- Elevated IgE

63
Q

What is the treatment of EE?

A

Elimination diet
Inhaled steroids and montelukast
Repeat endoscopies are necessary to assess improvement

If left untreated - can lead to stricture and food impaction

64
Q

What are the common sites of foreign body getting lodged in the oesophagus?

A

Upper oesophageal sphincter below cricopharynxgeus (70%)

Mid-oesophagus (20%)

Superior to the diaphragm at the lower oesophageal sphincter (10%)

65
Q

What are the diagnostic clues of vomiting?

A

Projectile - pyloric stenosis
Undigested food - achalasia
Bile stained - volvulus or intussuception
Adolescent - drugs, bulimia, pregnancy

66
Q

What are the treatments for cyclical vomiting?

A

Hydration
Ondansetron
Sumatriptan - can abort episode of cyclic vomiting in children and adults

67
Q

What is the gold standard test for peptic ulcer disease?

A

Upper GI endoscopy with biopsy

68
Q

What is the treatment of peptic ulcer disease?

A

PPI - omeprazole (1 month)
2x antibiotics (14 days)
- Amox + clari
- Metro + clari
- Amox + metro

69
Q

Which site is most commonly affected by H. pylori?

A

Lesser curvature of the stomach

70
Q

What follow up is required after H. Pylori eradication therapy?

A

Triple therapy for 2 weeks
Then PPI only for further 2 weeks
The 2 weeks no medications
Then stool test or urea breath test

H. pylori testing needs to be 4 weeks post abx and 2 weeks post PPI

71
Q

What is Zollinger-Ellison syndrome?

A

Gastrin secreting tumour of the pancreas which stimulates the acid secreting cells and causes GI mucous ulceration

72
Q

What is the Ix for Zollinger-Ellison syndrome?

A

Fasting serum gastrin levels - elevated
Serum Ca for MEN1 syndrome

73
Q

What is the clinical presentation of pyloric stenosis?

A

Non-bilious vomiting
- Immediately after food/ always hungry
Olive shaped mass in RUQ

74
Q

What is the double bubble sign indicative of on XR?

A

Duodenal atresia

75
Q

What are the conditions associated with duodenal atresia?

A

Down syndrome (20-30%)

76
Q

What are the clinical features of duodenal atresia?

A

Bilious vomiting (in the first day of life)
No abdominal distension
Jaundice
History of polyhydramnios

77
Q

What is superior mesentery artery syndrome?

A

Compression of the duodenum after rapid weight loss. There is loss of the mesenteric far mass which then causes collapse of the SMA on the duodenum compressing it between the SMA anteriorly and the aorta posteriorly

78
Q

Which conditions is Hirschsprungs disease associated with?

A

Down syndrome
Smith-Lemli-Optiz syndrome
Waardenburg syndrome

79
Q

Which conditions should be considered if meconium is not passed in the first 48 hours of life?

A

Cystic fibrosis
Meconium ileus
Hirschsprung disease

80
Q

What is the pathophysiology of Hirschsprungs disease?

A

Absent ganglion cells in the distal bowel due to failure of migration in neuroblasts from proximal to distal bowel

81
Q

What is the screening criteria for colon cancer in patients with ulcerative colitis?

A

If patients have UC for >10 years then they should be screened with colonoscopy and biopsy every 1-2 years

82
Q

Which conditions are associated with ulcerative colitis?

A

Iron deficiency anaemia
Pyoderma gangrenosum
Sclerosing cholangitis
Chronic active hepatitis
Ankylosing spondylitis
Folate deficiency (2ry to sulfadiazine)

83
Q

What is the area most commonly affected by crohns disease?

A

Terminal ileum

84
Q

What are the extra-intestinal manifestations of Crohns disease?

A

Oral ulcers
Peripheral arthritis
Erythema nodosum

85
Q

Which serological markers are affected in IBD?

A

ASCA - elevated in 40-56% of cases of Crohn’s disease
ANCA - elevated in 60-80% of cases of UC

86
Q

Which conditions are associated with Coeliac disease?

A

T1DM
Down syndrome
Thyroid disease
Turners syndrome
Williams syndrome
Selective IgA deficiency

87
Q

What are the extra-intestinal manifestations of Coeliac disease?

A

Muscle wasting + loss of muscular power
Hypotonia
Dermatitis Herpetiformis - blistering of the skin behind knees and buttocks
Dental enamel defects
Short stature
Delayed puberty
Osteoporosis
Persistent iron deficiency anaemia

88
Q

What investigations look for Coeliac disease?

A

Anti-TTG - most sensitive and specific
Antiendomysial IgA - harder to perform

NB: both the above tests may be negative if patient has IgA deficiency

89
Q

What histological results would you see in Coeliac disease?

A

Villus blunting/ atrophy
Crypt hyperplasia
Intra-epithelial lymphocytosis
Lamina propria inflammation

Reduced surface area therefore these children have malabsorption

90
Q

Which gene is affected in cystic fibrosis?

A

The CFTR gene on chromosome 7

91
Q

What is the primary function of the CFTR gene?

A

Namely it is a chloride ion channel but it also inhibits the epithelial sodium channel

92
Q

What are the symptoms of fat soluble vitamin deficiency which can present in Cystic fibrosis?

A

Vitamin A deficiency - night blindness, follicular hyperkeratosis

Vitamin D deficiency - Osteopenia, rickets

Vitamin E deficiency - progressive neurologic deterioration, ataxia, ophthalmoplegia

93
Q

What is Schwachmann-Diamond SYndrome?

A

The second most common cause of pancreatic insufficiency (2nd to CF)

Autosomal recessive

Triad of:
- Pancreatic failure
- Primarily cyclic neutropenia
- Skeletal abnormalities

94
Q

What are the histological findings in UC?

A

Mucosal and submucosal inflammation
Goblet cell depletion
Crypt abscesses
No granuloma formation

95
Q

How is proctitis or left sided colitis treated in UC?

A

Topical mesalazine

96
Q

How is induction of remission achieved in mild/ left sided colitis in UC?

A

5-ASAs e.g. sulphasalazine or mesalazine

Oral corticosteroids if 5-ASAs ineffective

97
Q

How is induction of remission achieved in moderate or severe colitis in UC?

A

Oral prednisolone

98
Q

How is induction of remission achieved in severe UC or toxic megacolon?

A

IV corticosteroids

99
Q

What is maintenance therapy in UC?

A

Oral mesalazine or oral sulphasalazine

Second line - azathioprine/ 6-mercaptopurine in cases of relapse within 6 months or steroid dependance

100
Q

What are the histological findings in Crohns disease?

A

Transmural inflammation
Multiple lymphoid aggregates
Granulomas

101
Q

What XR findings might you see in Crohns disease?

A

Rose-thorn ulcers

102
Q

How is induction of remission achieved in Crohn’s disease?

A

1st line - Elemental diet (broken down protein) or polymeric diet (whole protein)

2nd line - Corticosteroids in severe disease, isolated colitis or failure to respond to elemental diet - oral prednisolone or IV hydrocortisone

103
Q

What medications are used for maintenance therapy in Crohn’s disease?

A

Azathioprine or 6-mercaptopurine

SE: Pancreatitis, myelosuppression and hepatitis

104
Q

What are the risk factors for pyloric stenosis?

A

Male sex
First born child
Smoking during pregnancy
Prematurity
Being bottle fed
Neonatal exposure to macrolides

105
Q

What is the cause of abdominal pain in HSP?

A

Intussuception - diagnosed using USS

106
Q

What hormone is produced from the acinar cells in the pancreas?

A

Amylase

107
Q

What hormone is produced from the alpha cells in the pancreas?

A

Glucagon

108
Q

What hormone is produced from the beta cells in the pancreas?

A

Insulin

109
Q

What hormone is produced from the delta cells in the pancreas?

A

Somatostatin

110
Q

Where is ghrelin (hunger hormone) mostly produced from?

A

Stomach

Functions of ghrelin - stimulate appetite and promote fat storage

111
Q

Where is leptin primarily produced?

A

Adipose tissue

Leptin functions to stimulate the hypothalamus to produce melanocyte-stimulating hormone and corticotrophin releasing hormone to reduce appetite

112
Q

What is the pathophysiology of malrotation?

A

During fatal development the foregut, midgut and handout herniate out of the abdominal wall and rotate 270 degrees anticlockwise around the superior mesenteric vessels

The bowel then returns to the abdominal cavity with the duodenal flexure fixed to the left of the midline

Malrotation occurs due to a lack of 270 degree rotation of the midgut

Volvulus occurs when the abnormal rotation or fixation causes an obstruction

113
Q

What is the pathophysiology of IgE mediated cows milk protein allergy?

A

This is a type 1 hypersensitivity reaction - CD4 TH2 cells stimulate B cells to produce IgE antibodies against the protein (casein and whey) in cows milk

This triggers the release of histamine and other inflammatory mediators such as cytokines from mast cells and basophils

114
Q

What is the pathophysiology of non-IgE mediated cows milk protein allergy?

A

Non IgE mediated reactions involve T cell activation against the proteins in cows milk

115
Q

Why does diarrhoea occur in cows milk protein allergy?

A

The persistent presence of cows milk causes chronic inflammation and damage to the mucosal layer which in turn causes decreased fluid absorption

116
Q

How is the severity of GORD assessed?

A

pH monitoring - defined as a pH of <4 for greater than 15 seconds

The percentage of time spent with a pH <4 is the single best indicator of severity in GORD
5-10% - mild disease
10-20% - moderate disease
20-30% - severe disease

117
Q

What is the shape of H. Pylori?

A

Gram negative bacillus

118
Q

Which substance increases gastric acid secretion?

A

Acetylcholine
Gastrin - secreted from G-cells

119
Q

Which substance reduces gastric acid secretion?

A

Secretin - secreted from S-cells
Cholecystokinin - secreted from entero-endocrine cells

120
Q

What is the role of somatostatin?

A

Inhibits release of gastrin therefore reducing gastric acid secretion

121
Q

Why does vomiting occur in intussuception?

A

It occurs when over distension causes the afferent vagal nerve fibres to stimulate the vomiting centre located in the medulla

122
Q

Which conditions does VACTERL consist of?

A

Vertebral anomalies
Anorectal malformation
Cardiac defects
Tracheo-oesophageal fistula
Renal anomalies
Limb abnormalities

123
Q

What is the most common type of tracheoesophageal fistula?

A

Type C - proximal oesophageal atresia with distal oesophageal fistula

124
Q

What is the function of motilin?

A

Stimulates gut motility

125
Q

What is the function of vasoactive intestinal peptide?

A

Decreases gut motility

126
Q

How is Wilsons disease diagnosed?

A

Low serum caruloplasmin
Presence of Kayser-Fleischer rings around the iris

127
Q

What are the key features of toddlers diarrhoea?

A

> 4 loose stools/ day but otherwise well

Stools become more watery throughout the day

Undigested food may be present

128
Q
A