Physiology Flashcards

1
Q

Hormones: Examples of Amino Acid Derived

A

Adrenaline
Melatonin

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2
Q

Hormones: Examples of Lipid Derived Hormones

A

Testosterone
Oestradiol

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3
Q

Hormones: Adrenaline is derived from what?

A

Tyrosine

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4
Q

Hormones: Melatonin derived from what?

A

Tryptophan

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5
Q

Hormones: Testosterone and Oestradiol are derived from what?

A

Cholesterol

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6
Q

Receptors: G-protein Coupled Receptors - Structure

A

7 Transmembrane associated G-protein complex

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7
Q

Receptors: G-protein Coupled Receptors - Examples of Loss of function diseases of the Luteinizing hormone receptor (3)

A

Familial Hypogonadism
Leydig Cell Hypoplasia
Primary Amenorrhoea

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8
Q

Receptors: G-protein Coupled Receptors - Loss of function disease of the Thyrotropin-Releasing Hormone Receptor

A

Central hypothyroidism

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9
Q

Receptors: G-protein Coupled Receptors - Loss of function diseases of Growth Hormone Releasing Hormone Receptor

A

Short stature

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10
Q

Receptors: G-protein Coupled Receptors - Loss of function diseases of Calcium Sensing Receptor (2)

A

Benign familial hypocalciuric hypercalcaemia
Neonatal Severe Primary Hyperparathyroidism

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11
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of the Luteinizing Hormone Receptor (Germ Line)

A

Male-limited Precocious Puberty

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12
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of the Luteinizing Hormone Receptor (Somatic)

A

Leydig Cell Adenomas with precocious puberty

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13
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of Follicle Stimulating Hormone Receptor

A

In Females - spontaneous ovarian hyperstimulation syndrome

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14
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of Calcium Sensing Receptor (2)

A

Familial Hypocalcaemic Hypercalciuria
Bartter Syndrome Type V

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15
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of Thyroid Stimulating Receptor (Germ line)

A

Non-autoimmune or pregnancy-limited familial hyperthyroidism

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16
Q

Receptors: G-protein Coupled Receptors - Gain of function disease of Thyroid Stimulating Receptor (Somatic)

A

Autonomous Thyroid Adenomas

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17
Q

Receptors: Tyrosine Kinase Receptor - Examples (3)

A

Insulin
Growth Hormone
Prolactin

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18
Q

Receptors: Steroid Hormone Receptors Examples (2)

A

Oestrogen
Androgen

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19
Q

Hypothalamic-Pituitary Axis: What is the main concept of this?

A

Hormones produced by the Anterior Pituitary Gland act as negative feedback on the hypothalamus to alter output of Releasing hormones and Release-Inhibitory factors

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20
Q

Thyroid Axis: Raised TSH shows what?

A

Hypothyroid

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21
Q

Thyroid Axis: Raised TSH shows what?

A

Hypothyroid

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22
Q

Thyroid Axis: Suppressed TSH shows what?

A

Hyperthyroid

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23
Q

Thyroid Axis: When may TSH not be a reliable marker of Thyroid Function (3)

A

Secondary hypothyroidism
TSHoma
Sick Euthyroid Syndrome - low/normal TSH with low free hormone levels

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24
Q

Hormones: Cortisol - When is this measured?

A

9am

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25
Q

Hormones: What can be measured to indicate GH hypersecretion?

A

IGF-1

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26
Q

Hormones: How to measure the function of the sex hormone axis in men?

A

Measure testosterone at 9am

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27
Q

Hormones: Prolactin - Produced from what cells?

A

Lactotroph cells of the anterior pituitary gland

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28
Q

Hormones: Prolactin - Secretion is under tonic inhibition by what?

A

Hypothalamic dopamine

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29
Q

Hormones: Prolactin - Effects are mediated by what?

A

Prolactin Receptor

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30
Q

Hormones: Testing Pituitary Hormones - What test is used if there is a hormone excess?

A

Suppression test

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31
Q

Hormones: Testing Pituitary Hormones - What test is used if there is a hormone deficiency?

A

Stimulation test

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32
Q

Cortisol: Deficiency demonstrates what?

A

Adrenal insufficiency

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33
Q

Cortisol: Excess demonstrates what?

A

Cushing’s Syndrome

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34
Q

Cortisol: Test if there is a deficiency?

A

Synacthen Test

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35
Q

Cortisol: Test if there is an excess?

A

Dexamethasone Suppression Test

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36
Q

Insulin: Functionnsulin:

A

Regulates glucose levels within the blood - encourages breakdown of glucose

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37
Q

Alzheimers Disease Insulin Resistance: Pathophysiology

A

Defective pathway as receptors and PI3K cannot be phosphorylated

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38
Q

Insulin Resistance: 3 components

A

Impaired insulin signalling
Inflammation
Pathway-selective Hepatic Insulin Resistance

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39
Q

Insulin Resistance: Impaired Insulin Signalling - Pathophysiology involves reduced activity of what?

A

INSR Tyrosine Kinase Activity

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40
Q

Insulin Resistance: Impaired Insulin Signalling - Reduced INSR Tyrosine Kinase Activity causes a reduction in what? (5)

A

IRS1 Tyrosine phosphorylation
IRS1-associated PI3K activity
AKT phosphorylation
Glycogen synthesis
GLUT-4 translocation

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41
Q

Insulin Resistance: Inflammation - Induced by what?

A

Obesity

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42
Q

Insulin Resistance: Inflammation - Inflammatory response activates what? (2)

A

JNK
NF-KB

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43
Q

Insulin Resistance: Inflammation - JNK impact

A

Causes serine phosphorylation of IRS-1 to cause reduced glucose uptake into cells

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44
Q

Insulin Resistance: Inflammation - NF-KB and JNK impact

A

Translocate to the nucleus to increase TNF-alpha, IL-6 and MCP-1 (pro-inflammatory cytokines) to increase FFA

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45
Q

Insulin Resistance: Overall impacts on hepatocytes (3)

A

Reduces glucose uptake - reduce glycogenesis
Increased gluconeogenesis from lactate and glycerol
Increased VLDL secretion due to increased TTG esterification

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46
Q

Insulin Resistance: Causes remodelling of what?

A

ECM

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47
Q

Insulin Resistance: Pathway of ECM remodelling (5)

A
  1. Obesity and High fat diet
  2. Inflammation
  3. Increased collagen and Hyaluronan
  4. Increased ECM receptor signalling
  5. Muscle insulin resistance
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48
Q

Insulin Resistance: Matrix Metalloproteinase 9 - Genetic deletion has what impact?

A

Increased muscle collagen IV

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49
Q

Hyperinsulinaemic-Euglycaemic Clamp: Function in practice

A

Gold standard for measurement of insulin sensitivity

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50
Q

Hyperinsulinaemic-Euglycaemic Clamp: Physiological Function

A

Aims to maintain glucose concentration at the same level but an increase of insulin

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51
Q

Hyperinsulinaemic-Euglycaemic Clamp: What does this tell us about a patient?

A

How sensitive a patient is to glucose and how efficient their metabolism is

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52
Q

PEGPH20

A

PEGylated Hyaluronidase

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53
Q

PEGPH20 mechanism of action

A

Reduces muscle hyaluronan in mice and ameliorates insulin resistance on a high diet

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54
Q

CLT-28643 mechanism of action

A

Novel integrin alpha-5-Beta-1 inhibitor to inhibit fibrosis and inflammation

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55
Q

Insulin: Normal concentration when fasting

A

<4mM

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56
Q

Insulin: Risks when fasting (2)

A

Hypoglycaemia
Coma

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57
Q

Insulin: Normal glucose concentrations

A

4-6mM

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58
Q

Insulin: High glucose concentration

A

6-7mM

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59
Q

Insulin: Diabetic glucose concentration

A

> 7mM

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60
Q

Insulin: Structure - Synthesised where and in what cell?

A

Rough Endoplasmic Reticulum in Pancreatic Beta Cells

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61
Q

Insulin: Structure - Initially synthesised as what?

A

Pre-proinsulin

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62
Q

Insulin: Structure of Pre-proinsulin

A

Two polypeptide chains linked by a disulphide bond

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63
Q

Insulin: Structure - What is synthesised after pre-proinsulin?

A

Cleaved to form insulin + C-peptide

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64
Q

Insulin: Preparations - Insulin Lispro structure

A

Lysine [B28] and Proline [B29]

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65
Q

Insulin: Preparations - Insulin Lispro speed of action

A

Ultra-fast with short action - inject within 15 minutes of starting a meal

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66
Q

Insulin: Preparations - Insulin Lispro - how does this structure impact action?

A

The switching of Lysine and Proline induces greater instability of the molecule to reduce half life

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67
Q

Insulin: Preparations - Insuline Glargine - Structure

A

Glycine [alpha21] and Arginine [B31-32]

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68
Q

Insulin: Preparations - Insuline Glargine - Length of action

A

Long-acting

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69
Q

Insulin: Preparations - Insuline Glargine - Time of administration

A

Single administration before bed

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70
Q

Insulin: Synthesis - Synthesised by what overall structure?

A

Pancreatic islets

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71
Q

Insulin: Synthesis - Alpha cell function

A

Secrete glucagon

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72
Q

Insulin: Synthesis - Beta cell function

A

Secrete insulin

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73
Q

Insulin: Synthesis - Delta cell function

A

Secrete somatostatin

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74
Q

Insulin: Synthesis - PP cell function

A

Secrete pancreatic polypeptide

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75
Q

Insulin: Synthesis by Beta Cell - Glucose enters cell how?

A

GLUT-2

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76
Q

Insulin: Synthesis by Beta Cell - Glucose becomes phosphorylated by what enzyme?

A

Glucokinase

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77
Q

Insulin: Synthesis by Beta Cell - Glucokinase function (2)

A

Phosphorylation of Glucose
Acts as a glucose sensor

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78
Q

Insulin: Synthesis by Beta Cell - How is insulin released?

A

Glycolysis increases intracellular ATP concentration to inhibit the ATP-sensitive K+ channel causing depolarisation of the membrane
Calcium channels open leading to secretion of insulin

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79
Q

Insulin: Biphasic Synthesis - 1st phase

A

Readily releaseable pool - 5% of insulin is immediately available for release

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80
Q

Insulin: Biphasic Synthesis - 2nd phase

A

Reserve pool undergoes preparatory reactions to become mobilised and available for release - only occurs if 1st phase is not sufficient to reduce glucose

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81
Q

Insulin: Signalling - Activates what processes in muscle?

A

Glycogen synthesis
Amino acid uptake
Glucose uptake

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82
Q

Insulin: Signalling - Activates what processes? (2)

A

DNA and protein synthesis
Growth responses

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83
Q

Insulin: Signalling - Activates what processes in adipose tissue?

A

Glucose uptake
Lipogenesis

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84
Q

Insulin: Signalling - Activates what processes in the liver?

A

Lipogenesis
Glycogen synthesis

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85
Q

Insulin: Signalling - Inactivates what process? (2)

A

Lipolysis
Gluconeogenesis in the liver - from Lactate and Amino Acids

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86
Q

Insulin Resistance

A

Reduced ability to respond to physiological insulin levels due to reduced insulin sensing and or signalling

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87
Q

Leprechaunism: Alternate name

A

Donohue Syndrome

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88
Q

Leprechaunism

A

Rare autosomal recessive genetic mutation in the gene of insulin receptors that induces severe insulin resistance

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89
Q

Leprechaunism: Symptoms (4)

A

Elfin facial appearance
Growth retardation
Absence of subcutaneous fat
Increased muscle mass

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90
Q

Rabson Mendenhall Syndrome: Genetic Pattern

A

Autosomal recessive genetic mutations

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91
Q

Rabson Mendenhall Syndrome: Clinical Presentation (4)

A

Severe insulin resistance - hyperglycaemia and hyperinsulinaemia
Acanthosis nigricans - hyperpigmentation
Fasting hypoglycaemia
Diabetic Ketoacidosis

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92
Q

Diabetic Ketoacidosis: Who is at risk of this?

A

Type I diabetics that do not take insulin correctly

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93
Q

Diabetic Ketoacidosis: Symptoms (4)

A

Vomiting
Dehydration
Increased heart rate
Distinctive acetone smell on breath

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94
Q

Diabetic Ketoacidosis: Ketone Bodies - Formed by what?

A

Liver mitochondria

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95
Q

Diabetic Ketoacidosis: Ketone Bodies - Derived from what?

A

Acetyl CoA

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96
Q

Diabetic Ketoacidosis: Ketone Bodies - Important for energy metabolism where?

A

Heart
Renal cortex

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97
Q

Diabetic Ketoacidosis: Ketone Bodies - How is this used as energy in the heart and renal cortex?

A

Converted back to Acetyl CoA by the TCA cycle

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98
Q

Diabetic Ketoacidosis: Risk in Type I DM when?

A

If insulin supplementation is missed

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99
Q

Insulin: K-ATP Channels - Consist of what two proteins? (2)

A

Kir6 pore subunit
SUR1 Regulatory subunit

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100
Q

Insulin: K-ATP Channels - Kir6 pore subunit function

A

Inward rectifier subunit

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101
Q

Insulin: K-ATP Channels - SUR1 Regulatory subunit function

A

Sulphonylurea Receptor

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102
Q

Insulin: K-ATP Channels - Neonatal Diabetes Involvement

A

Kir6.2 mutations cause activated K-ATP channels or increase in channel numbers

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103
Q

Insulin: Neonatal Diabetes Mellitus - May be responsive to what treatment?

A

Sulphonylurea Receptor 1 e.g. Tolbutamide

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104
Q

Insulin: K-ATP Channels - Congenital Hyperinsulinaemia involvement

A

Kir6.2 and SUR1 mutations cause hyperinsulinaemia

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105
Q

Insulin: Congential Hyperinsulinaemia may respond to what?

A

Diazoxide

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106
Q

Diabetes: Type I - Pathophysiology

A

Autoimmune destruction of pancreatic Beta cells

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107
Q

Diabetes: Type II - Pathophysiology

A

Insulin resistance presenting with hyperinsulinaemia and hyperglycaemia as a result of resistance

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108
Q

Diabetes: Gestational Diabetes

A

Impaired glucose tolerance that is diagnosed during pregnancy

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109
Q

Diabetes: Gestational Diabetes - Diagnostic criteria

A

Fasting Blood Glucose >5.5 (lower than other forms)

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110
Q

Diabetes: Gestational Diabetes - Risk on child

A

Increased birth weight of child

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111
Q

Diabetes: MODY

A

Maturity Onset Diabetes of the Young

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112
Q

Diabetes: Maturity Onset Diabetes of the Young

A

Monogenic disease with common clinical features of both Type I and II Diabetes Mellitus

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113
Q

Diabetes: Maturity Onset Diabetes of the Young - Pathophysiology

A

Genetic Beta Cell dysfunction but no autoimmune destruction

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114
Q

Diabetes: Maturity Onset Diabetes of the Young - Management

A

Oral Sulphonylurea

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115
Q

Diabetes: Neonatal Diabetes

A

Mongenic diabetes present within the first 6 months of life

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116
Q

Diabetes: Neonatal Diabetes - Pathophysiology

A

Due to mutations in the glucose sensing mechanism of K-ATP channel

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117
Q

The Pancreas: Epsilon cell function

A

Secrete ghrelin

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118
Q

GSIS

A

Glucose Stimulated Insulin Secretion

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119
Q

The Pancreas: Biogenesis of Insulin - Insulin gene undergoes what?

A

Transcription to generate insulin mRNA

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120
Q

The Pancreas: Biogenesis of Insulin - Translation of insulin mRNA generates what?

A

Pre-proinsulin in the Rough Endoplasmic Reticulum

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121
Q

The Pancreas: Biogenesis of Insulin - What generates pro-insulin?

A

Golgi apparatus

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122
Q

The Pancreas: Biogenesis of Insulin - Pro-insulin cleaved by what?

A

Prohormone convertase

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123
Q

The Pancreas: Biogenesis of Insulin - Prohormone Convertase function

A

Pro-insulin cleavage to form a reserve pool of C-peptide and Insulin

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124
Q

The Pancreas: Glucose Sensing - Glucose uptaken by what?

A

GLUT-1/2

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125
Q

The Pancreas: Glucose Sensing - How is ATP generated?

A

Activation of Glycolysis and Oxidative Phosphorylation

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126
Q

The Pancreas: Glucose Sensing - ATP inactivates what?

A

K-ATP channels

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127
Q

The Pancreas: Glucose Sensing - Inactivation of K-ATP has what impact?

A

Causes membrane depolarisation to active L-type Voltage dependent calcium channels

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128
Q

The Pancreas: Glucose Sensing - How is insulin exocytosed?

A

Calcium moves inwards

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129
Q

The Pancreas: K-ATP Channel - Open when?

A

At a low glucose concentration - to maintain a hyper-polarised plasma membrane

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130
Q

The Pancreas: K-ATP Channel - Closed when?

A

At a high glucose concentration - causes depolarisation of the membrane

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131
Q

Sulfonylureas: Mechanism of Action

A

Bind to SUR1 subunit of the K-ATP Channel to cause closure of the channel to trigger insulin secretion independent of glucose concentration

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132
Q

Alpha Cells: Glucose Sensing - Low glucose impact on Glucose Uptake

A

Low

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133
Q

Alpha Cells: Glucose Sensing - Low glucose impact on Metabolism

A

Low

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134
Q

Alpha Cells: Glucose Sensing - Low glucose impact on K-ATP Channels

A

Open

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135
Q

Alpha Cells: Glucose Sensing - Low glucose impact on P/Q-type Voltage-gated Calcium Channels

A

Enables calcium influx

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136
Q

Alpha Cells: Glucose Sensing - Low glucose impact on Glucagon

A

Exocytosis triggered

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137
Q

Alpha Cells: Glucose Sensing - High glucose impact on Glucose uptake

A

High

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138
Q

Alpha Cells: Glucose Sensing - High glucose impact on Metabolism

A

High

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139
Q

Alpha Cells: Glucose Sensing - High glucose impact on K-ATP Channels

A

Closed - depolarises the cell

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140
Q

Alpha Cells: Glucose Sensing - High glucose causes the closure of what channels?

A

NaV and CaV channels

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141
Q

Alpha Cells: Glucose Sensing - High glucose impact on Glucagon?

A

No exocytosis

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142
Q

Alpha Cells: Glucagon function

A

Acts on the liver to promote hepatic glucose production to increase blood glucose

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143
Q

Paracrine function

A

Communication between adjacent cells via signalling molecules

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144
Q

The Pancreas: Somatostatin secreted by what?

A

Delta cells

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145
Q

The Pancreas: Somatostatin secreted when?

A

In response to nutrient or hormonal stimulation - to suppress beta cell and alpha cell function

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146
Q

Hypoglycaemia: Why have hospitalisations over 70 increased?

A

Decreased renal function and insulin use

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147
Q

Hypoglycaemia: Symptoms - General (3)

A

Complaint of hunger
Sense of weakness or fatigue
Profuse sweating

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148
Q

Hypoglycaemia: Symptoms - Brain (5)

A

Cognitive dysfunction
Hemiparesis
Seizures
Coma
Psychological fear of hypoglycaemia

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149
Q

Hypoglycaemia: Symptoms - Musculoskeletal (4)

A

Falls
Fractures
Joint dislocation
Driving accidents

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150
Q

Hypoglycaemia: Symptoms - Cardiac (3)

A

Myocardial infarction
Cardiac arrhythmia
Cardiac failure

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151
Q

Hypoglycaemia: Symptoms - Circulation (4)

A

Inflammation
Blood coagulation abnormalities
Haemodynamic changes
Endothelial dysfunction

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152
Q

Hypoglycaemia: Classification - Level 1

A

Glucose alert of 3.9 mmol/L (70 mg/dL) or less

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153
Q

Hypoglycaemia: Classification - Level 2

A

Glucose level <3.0 mmol/L (<54 mg/dL) is sufficiently low to indicate serious clinical importance

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154
Q

Hypoglycaemia: Classification - Level 3

A

Severe hypoglycaemia denoting severe cognitive impairment requiring external assistance for recovery

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155
Q

Hypoglycaemia: Counter-regulation - Generated by what?

A

Glucagon

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156
Q

Hypoglycaemia: Counter-regulation - Function of glucagon during hypoglycaemia

A

Acts on the liver to increase hepatic glucose production

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157
Q

Hypoglycaemia: Counter-regulation - Concern of prolonged hypoglycaemia

A

Raised threshold for counter-regulatory response due to high insulin and poor glucagon release

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158
Q

Hypoglycaemia: Counter-regulation - Concern of prolonged hypoglycaemia

A

Raised threshold for counter-regulatory response due to high insulin and poor glucagon release

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159
Q

Hypoglycaemia: Risk Factors - Impact of alcohol

A

Alcohol lowers blood glucose

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160
Q

Hypoglycaemia: Risk Factors - Exercise impact

A

High insulin and exercise encourage increased glucose uptake into muscles as this is insulin-independent

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161
Q

Diabetic Emergencies: Diabetic Ketoacidosis

A

Disordered metabolic state during absolute or relative insulin deficiency accompanied by an increase in counter-regulatory hormones e.g. Glucagon/Adrenaline/Cortisol/GH

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162
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Aetiologies (2)

A

Insulin deficiency
Increased insulin demand

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163
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Insulin deficiency can occur due to what? (2)

A

Non-adherence to insulin
Poor self management

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164
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Causes of Increased Insulin Demand (5)

A

Infections - Pneumonia, UTI and Cellulitis
Inflammatory - Pancreatitis and Cholecystitis
Intoxication - Alcohol, Cocaine, Salicyclate and Methanol
Infarction - Acute MI and Stroke
Iatrogenic - Surgery or Steroids

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165
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Impact on Lipolysis

A

Increased - due to reduced glucose and demand for alternate energy resource

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166
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Increased FFA and Glycerol undergo what?

A

Enter ketogenic pathways to form Ketone bodies and thus Acidosis

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167
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Impact on proteolysis

A

Increased - to utilise AA

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168
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Impact on Glycogenolysis

A

Increased

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169
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Hyperglycaemia excreted via what?

A

PCT of the kidney

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170
Q

Diabetic Emergencies: Diabetic Ketoacidosis - Why does dehydration and electrolyte loss occur?

A

As glycosuria induces osmotic diuresis

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171
Q

Diabetic Ketoacidosis: Clinical Presentation - Osmotic Related (3)

A

Thirst
Polyuria
Dehydration

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172
Q

Diabetic Ketoacidosis: Clinical Presentation - Ketone Body Related (4)

A

Flushed
Vomiting
Abdominal pain and tenderness
Breathlessness

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173
Q

Diabetic Ketoacidosis: Clinical Presentation - Vomiting induced why?

A

Ketones trigger the CT2 zone of the medulla

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174
Q

Diabetic Ketoacidosis: Clinical Presentation - Breathlessness occurs why?

A

Ketones stimulate peripheral chemoreceptors to increase respiratory rate via the vagus and glossopharyngeal nerves

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175
Q

Diabetic Ketoacidosis: Clinical Presentation - Kussmauls Respiration

A

Fast deep breaths in response to metabolic acidosis

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176
Q

Diabetic Ketoacidosis: Clinical Presentation - Smell of breath

A

Acetone - smells fruity

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177
Q

Diabetic Ketoacidosis: Clinical Presentation - Associated Conditions (2)

A

Sepsis
Gastroenteritis

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178
Q

Diabetic Ketoacidosis: Clinical Presentation - Palpitations or Chest/Abdominal pain occurs why?

A

H+ intake to cells
K+ excreted from cells but cannot be brought back in as it requires insulin
So increased plasma K+ causes palpatations and inhibits the ileus

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179
Q

Diabetic Ketoacidosis: Diagnosis - 3 factors

A

Ketonaemia
High blood glucose
Low Bicarbonate

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180
Q

Diabetic Ketoacidosis: Diagnosis - Ketonaemia levels

A

> 3mmol/L or significant ketonuria >2+ on a standard stick

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181
Q

Diabetic Ketoacidosis: Diagnosis - Blood glucose levels

A

> 11mmol/L or known DM

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182
Q

Diabetic Ketoacidosis: Diagnosis - Bicarbonate levels

A

<15mmol/L or venous pH <7.3

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183
Q

Diabetic Ketoacidosis: Diagnosis - Potassium

A

May be a low normal or >5.5 mmol/L

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184
Q

Diabetic Ketoacidosis: Diagnosis - Creatinine

A

Often raised

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185
Q

Diabetic Ketoacidosis: Diagnosis - Sodium

A

Reduced

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186
Q

Diabetic Ketoacidosis: Diagnosis - Lactate

A

Raised

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187
Q

Diabetic Ketoacidosis: Diagnosis - Amylase

A

Raised - can be salivary source or pancreatitis

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188
Q

Diabetic Ketoacidosis: Potential Complications (5)

A

Cardiac arrest
ARDS
Cerebral Oedema
Gastric dilatation
Sepsis

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189
Q

Diabetic Ketoacidosis: Average loss of Fluid

A

Up to 12L

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190
Q

Diabetic Ketoacidosis: Average loss of Sodium

A

500mmol

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191
Q

Diabetic Ketoacidosis: Average loss of Potassium

A

350-700 mmol

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192
Q

Diabetic Ketoacidosis: Average loss of Phosphate

A

50-100 mmol

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193
Q

Diabetic Ketoacidosis: Management - IV fluid resusicitation stages

A
  1. 1000 mL NaCl 0.9% in the first hour
  2. 2000 mL NaCl by the end of second hour
  3. 3000 mL NaCl by the end of the third hour
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194
Q

Diabetic Ketoacidosis: Management -Insulin

A

Subcutaneous basal insulin adminstered

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195
Q

Diabetic Ketoacidosis: Management - Glucose

A

If glucose falls to 15 switch to Dextrose

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196
Q

Diabetic Ketoacidosis: Ketone Monitoring - Why does insulin deficiency induce this?

A

Switches metabolic balance in a catabolic direction to increase the levels of ketone bodies

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197
Q

Diabetic Ketoacidosis: Ketone Monitoring - Examples of Ketones (3)

A

Acetone
Acetoacetate
Beta Hydroxybutyrate

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198
Q

Diabetic Ketoacidosis: Ketone Monitoring - High urination causes losses of what? (6)

A

Electrolytes
Sodium
Potassium
Chloride
Phosphate
Magnesium

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199
Q

Diabetic Ketoacidosis: Kussmaul Respiration function

A

Involuntary attempt to remove carbon dioxide from the blood that would cause a worsening of ketoacidosis

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200
Q

Diabetic Ketoacidosis: Ketone Monitoring - Optium meter measures what?

A

Beta Hydroxybutyrate

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201
Q

Diabetic Ketoacidosis: Ketone Monitoring - Normal level of Beta Hydroxybutyrate

A

<0.6mmol/L

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202
Q

Diabetic Ketoacidosis: Ketone Monitoring - Ketosis level for Beta Hydroxybutyrate

A

> 3 mmol/L

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203
Q

Diabetic Ketoacidosis: Ketone Monitoring - Urine Ketone testing measures what?

A

Acetoacetate

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204
Q

Diabetic Ketoacidosis: Ketone Monitoring - Why does ketonuria persist after clinical improvement?

A

Mobilisation of ketones from fat tissue

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205
Q

Diabetic Ketoacidosis: Causes of death in adults (3)

A

Hypokalaemia
Aspiration pneumonia
ARDS

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206
Q

Diabetic Ketoacidosis: Main cause of death in children

A

Cerebral oedema

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207
Q

Hyperglycaemic Hyperosmolar Syndrome: Common in what patient groups? (3)

A

Older patients
Young afro-carribean patients
Type II diabetics - due to insulin deficiency

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208
Q

Hyperglycaemic Hyperosmolar Syndrome: Pathophysiology

A

Same mechanism as DKA but endogenous insulin is present so ketosis and acidosis is not prominent

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209
Q

Hyperglycaemic Hyperosmolar Syndrome: What drugs increase the risk?

A

Steroids
Thiazide Diuretics

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210
Q

Hyperglycaemic Hyperosmolar Syndrome: Normally preceded by what?

A

High refined carbohydrate intake

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211
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Glucose

A

Hyperglycaemia - >50 mmol/L this is higher than DKA

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212
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Blood volume

A

Hypovolaemia

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213
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Ketonaemia

A

None or mild - <3 mmol

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214
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Bicarbonate

A

High (>15 mmol/L) or venous pH >7.3

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215
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Osmolarity

A

> 320 mosmol

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216
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - 3 characteristic features

A

Hypovolaemia
Marked hyperglycaemia without significant ketonaemia or acidosis
High osmolarity

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217
Q

Hyperglycaemic Hyperosmolar Syndrome: Diagnosis - Lactic acidosis may occur when? (2)

A

If sepsis is present or patient on Metformin with marked renal dysfunction

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218
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - How to measure osmolarity?

A

2Na + Glucose + Urea

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219
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - If dehydrated

A

0.9% saline for fluid replacement without insulin

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220
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - Risk of fluid replacement

A

Fluid overload

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221
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - Insulin if glucose is not brought down by fluids

A

Start low dose insulin if significant ketonaemia or ketonuria or if blood glucose falls at a rate of less than 5 mmol/hour despite fluids

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222
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - Sodium must avoid what?

A

Fluctuations

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223
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - What to give if osmolarity doesn’t fall despite fluids?

A

0.45% Saline

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224
Q

Hyperglycaemic Hyperosmolar Syndrome: Management - What drugs are given to all patients if not contraindicated? (2)

A

LMWH
Prophylactic fragmin

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225
Q

Alcoholic or Starvation Ketoacidosis: Starvation pathophysiology - causes what 4 things?

A

NAD conversion to Acetaldehyde for gluconeogenesis
Decreased glycogen stores
Fatty acid mobilisation - increased Beta Hydroxybutyrate
Volume depletion - increased catecholeamines and cortisol

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226
Q

Alcoholic or Starvation Ketoacidosis: Impact on glucagon

A

Increased

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227
Q

Alcoholic or Starvation Ketoacidosis: Impact on insulin

A

Decreased

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228
Q

Alcoholic or Starvation Ketoacidosis: Diagnosis - 3 components

A

Normal glucose
Ketonaemia - >3mmol/L or +2 on a urine stick
Bicarbonate increased - <15 mmol/L or venous pH <7.3

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229
Q

Alcoholic or Starvation Ketoacidosis: Management (4)

A

IV Pabrinex
IV dextrose
IV Anti-emetics
Insulin - if significant ketonaemia with no improvement

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230
Q

Hospital Admission of Type I DM: Characteristics of admission (6)

A

Unable to tolerate oral fluids
Persistent vomiting
Persistent hypoglycaemia
Persistent positive or increasing levels of ketones
Abdominal pain
Breathlessness

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231
Q

Hospital Admission of Type I DM: Target blood sugar

A

6-10 mmol/L (or 4-12)

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232
Q

Lactate: Origin (4)

A

Red blood cells
Skeletal muscle
Brain
Medulla

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233
Q

Lactate: Why is this made?

A

End product of anaerobic metabolism of glucose

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234
Q

Lactate: Excretion method

A

Requires hepatic uptake and aerobic conversion to pyruvate and thus glucose

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235
Q

Lactic Acidosis: Normal lactate range

A

0.6-1.2 mmol/L

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236
Q

Lactic Acidosis: Lactate is lowest when?

A

Fasting state

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237
Q

Lactic Acidosis: When may lactate rise?

A

Exercise

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238
Q

Lactic Acidosis: Normal range of ion gap

A

10-18 mmol/L

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239
Q

Lactic Acidosis: Type A associated with what?

A

Tissue hypoxaemia

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240
Q

Lactic Acidosis: Examples of states associated with Type A (3)

A

Infarcted tissue
Cardiogenic shock
Hypovolaemic shock - sepsis or haemorrhage

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241
Q

Lactic Acidosis: Type B associated with what states? (4)

A

Liver disease
Leukaemic states
Metabolic disease - inherited
Diabetes - DKA may have high lactate

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242
Q

Lactic Acidosis: Clinical presentation (3)

A

Hyperventilation
Mental confusion
Stupor or coma

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243
Q

Lactic Acidosis: Diagnosis - Bicarbonate

A

Reduced

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244
Q

Lactic Acidosis: Diagnosis - Anion gap

A

Raised

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245
Q

Lactic Acidosis: Diagnosis - Ketones

A

No ketonaemia

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246
Q

Lactic Acidosis: Diagnosis - Phosphate

A

Raised

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247
Q

Thyroid Gland: Basic functional unit

A

Follicle

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248
Q

Thyroid Gland: Signals for TRH release are initiated where?

A

Paraventricular nucleus of the hypothalamus

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249
Q

Thyroid Gland: What predominantly controls the negative feedback loop?

A

T3 - suppresses TSH and TRH production

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250
Q

Thyroid Gland: Hormone synthesis - Initial stage

A

Thyroglobulin synthesis

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251
Q

Thyroid Gland: Hormone synthesis - Thyroglobulin is rich in what?

A

Tyrosine

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252
Q

Thyroid Gland: Hormone synthesis - Thyroglobulin is synthesised where?

A

Follicular cells

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253
Q

Thyroid Gland: Hormone synthesis - Iodide is uptaken to where?

A

Colloid

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254
Q

Thyroid Gland: Hormone synthesis - What happens to Iodide (I-) in the follicular cells?

A

Oxidation of two Iodide to form Iodine (I)

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255
Q

Thyroid Gland: Hormone synthesis - Iodine passes to where?

A

Colloid

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256
Q

Thyroid Gland: Hormone synthesis - What is the role of Iodine?

A

Iodination of Thyroglobulin

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257
Q

Thyroid Gland: Hormone synthesis - How does Iodination of Thyroglobulin occur?

A

Colloid peroxidases - link Iodine to Tyrosine amino acids to form two intermediates

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258
Q

Thyroid Gland: Hormone synthesis - Two intermediates

A

MIT - Monoiodotyrosine
DIT - Diiodotyrosine

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259
Q

Thyroid Gland: Hormone synthesis - Iodination of Thyroglobulin is inhibited by what? (2)

A

Carbomisol
Propthyouracil

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260
Q

Thyroid Gland: Hormone synthesis - When the intermediates are linked what is formed?

A

T3 - Triiodothyronine

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261
Q

Thyroid Gland: Hormone synthesis - When two DIT are linked what is formed?

A

T4 - Thyroxine

262
Q

Thyroid Gland: Hormone synthesis - How does secretion of hormones occur?

A

Colloid is enveloped by microvilli which form colloid vesicles within the cell that fuse with lysosomes

263
Q

Thyroid Gland: T4 - What % of hormone secreted is this?

A

90%

264
Q

Thyroid Gland: T4 - Converted to T3 where? (2)

A

Liver
Kidney

265
Q

Thyroid Gland: What is the biologically active hormone?

A

T3

266
Q

Thyroid Gland: Hormone Transport - What serum proteins may they bind to? (3)

A

TBG - Thyroxine Binding Globulin - 70%
TBPA - Thyroxine Binding Pre-albumin - 20%
Albumin - 5%

267
Q

Thyroid Gland: Hormone Transport - Thyroid Binding Globulins have a lower affinity to what?

A

T3

268
Q

Thyroid Gland: Hormone Degradation - Conducted by what?

A

De-Iodinases

269
Q

Thyroid Gland: Deiodinases - Type I Found where?

A

Liver
Kidney

270
Q

Thyroid Gland: Deiodinases - Type I function

A

Breaks down 40% of T4

271
Q

Thyroid Gland: Deiodinases - Type II found where?

A

Heart
Skeletal Muscle
CNS
Fat
Thyroid
Pituitary

272
Q

Thyroid Gland: Deiodinases - Type III found where?

A

Foetal tissue
Placenta
Brain - except the pituitary

273
Q

Thyroid Gland: Deiodinases - Type III function

A

T4 > T3 for excretion
T3 > T2

274
Q

Thyroid Bound Globulins: Increased TBGs - Can be caused by what drugs? (4)

A

Oral contraceptive pill
Tamoxifen
Clofibrate
Heroine

275
Q

Thyroid Bound Globulins: Increased TBGs - Can be caused by what states? (6)

A

Pregnancy
Newborns
Hepatitis A
Chronic active hepatitis
Biliary cirrhosis
Acute intermittent porphyria

276
Q

Thyroid Bound Globulins: Decreased TBGs - Can be caused by what drugs? (3)

A

Glucocorticoids
Phenytoin
Carbamezapine

277
Q

Thyroid Bound Globulins: Decreased TBGs - Can be caused by what states? (4)

A

Androgens
Active acromegaly
Severe systemic disease - liver or nephrotic syndrome

278
Q

Thyroid Hormones: Impact on metabolic rate

A

Increased basal metabolic rate

279
Q

Thyroid Hormones: Impact on mitochondria

A

Increased number and size

280
Q

Thyroid Hormones: Impact on oxygen use

A

Increased

281
Q

Thyroid Hormones: Impact on ATP hydrolysis

A

Increased

282
Q

Thyroid Hormones: Impact on glycogenesis

A

Decreased

283
Q

Thyroid Hormones: Impact on blood glucose

A

Increased - due to gluconeogenesis and glycogenolysis

284
Q

Thyroid Hormones: Impact on glucose uptake (insulin-dependent)

A

Increased

285
Q

Thyroid Hormones: Impact on fats (4)

A

Mobilises fats from adipose tissue
Increased fatty acid oxidation
Increased lipolysis
Decreased lipogenesis

286
Q

Thyroid Hormones: Impact on protein metabolism

A

Increased protein synthesis

287
Q

Thyroid Hormones: Impact on thermogenesis

A

Increases thermogenesis

288
Q

Thyroid Hormones: Growth - What are thyroid hormones required for? (3)

A

Growth hormone production, activity and secretion
Glucocorticoid-induced GHRH release
Somatomedins activity

289
Q

Thyroid Hormones: Vital for development of the foetal and neonatal brain why?

A

For myelinogenesis and axonal growth

290
Q

Thyroid Hormones: Hypothyroidism impact on CNS

A

Slow intellectual function

291
Q

Thyroid Hormones: Hyperthyroidism impact on CNS

A

Nervousness
Hyperkinesis
Emotional lability

292
Q

Thyroid Hormones: Sympathomimetic Action - Increase responsiveness to what and how? (2)

A

Adrenaline - increased number of receptors
Cardiovascular responsiveness - increased force and rate of contraction

293
Q

Thyroid Hormones: Impact on lungs

A

Increased RR

294
Q

Thyroid Hormones: Impact on hearts (2)

A

Increase HR and force of contraction

295
Q

Thyroid Releasing Hormone: Source

A

Hypothalamus

296
Q

Thyroid Releasing Hormone: Function

A

Stimulates the release of TSH

297
Q

Thyroid Stimulating Hormone: Source

A

Anterior Pituitary Gland

298
Q

Thyroid Stimulating Hormone: Mechanism of action

A

Binds to TSH receptor on thyroid epithelial cells to activate G proteins for T3 and T4 production

299
Q

Thyroid Hormones: Mechanism of action

A

Translocate the nucleus to bind to Thyroid Response Elements on target genes to stimulate transcription of genes to increase BMR

300
Q

Cell Signalling: Autocrine Regulation

A

Signalling molecules are released from the cell and bind to the receptors or in the cell that are releasing them

301
Q

Cell Signalling: Paracrine Regulation

A

Signalling molecules. arereleased from cells and bind to receptord on adjacent cells to induce a response

302
Q

Cell Signalling: Endocrine Regulation

A

Hormones are released from secretory cells and transported via the circulatory system to distant cells

303
Q

Hormones

A

Any substance secreted from one cell that regulates another cell

304
Q

Hormones: 3 main classes

A

Steroid Hormones
Amine-derived Hormones
Peptide Hormones

305
Q

Hormones: Example of a steroid hormone

A

Oestrogen

306
Q

Hormones: Example of an amine-derived hormone

A

Adrenaline

307
Q

Hormones: Example of a peptide hormone (4)

A

Oxytocin
ADH
Growth Hormone
Insulin

308
Q

Hormones: Steroid Hormones - Derived from what?

A

Cholesterol

309
Q

Hormones: Steroid Hormones - Amount synthesised is dependent on what?

A

Synthesis rate

310
Q

Hormones: Steroid Hormones - Water properties

A

Hydrophobic

311
Q

Hormones: Steroid Hormones - Lipid properties

A

Lipophilic

312
Q

Hormones: Steroid Hormones - Transport

A

Bound to carrier proteins

313
Q

Hormones: Steroid Hormones - Examples (3)

A

Cortisol
Testosterone
Oestradiol

314
Q

Hormones: Amine Hormones - Catecholamine properties

A

Hydrophilic - transported unbound or free

315
Q

Hormones: Amine Hormones - Thyroid amine hormones transport

A

Bound to carrier proteins

316
Q

Hormones: Amine Hormones - Synthesis

A

Synthesised and stored in vesicles in the cytoplasma until required

317
Q

Hormones: Amine Hormones - Secreted from what organs? (2)

A

Thyroid
Adrenal Medulla

318
Q

Hormones: Peptide Hormones - Water properties

A

Hydrophilic

319
Q

Hormones: Peptide Hormones - Transport

A

Unbound in plasma

320
Q

Hormones: Peptide Hormones - Secreted from what organs? (6)

A

Pituitary gland
Parathyroid glands
Heart
Stomach
Liver
Kidneys

321
Q

Hormones: Peptide Hormones - Synthesis overview

A

Synthesised as a precursor molecule and then stored within secretory vesicles

322
Q

Hormones: Peptide Hormones - What are. thetwo structure types? (2)

A

Ring structure - Somatostatin
2 chains bound by disulphide bonds - Insulin

323
Q

Hormones: Diurnal Control - Follows what rhythm?

A

Circadian

324
Q

Hormones: Diurnal Control - Complementary Actions on control of glucose levels (4)

A

Sympathetic response
Adrenaline
Cortisol
Glucagon

325
Q

Hormones: Transport - Steroid and Thyroid Hormones

A

Insoluble in plasma - transported by proteins

326
Q

Hormones: Transport - CBG name and function

A

Cortisol Binding Globulin - Binds cortisol and aldosterone

327
Q

Cortisol Binding Globulin - TBG name and function

A

Thyroxine-Binding Globulin - Binds T4 selectively with some T3

328
Q

Cortisol Binding Globulin - SSBG name and function

A

Sex Steroid-Binding Globulin - Binds Tesoterone and Oestradiol

329
Q

What provides the highest level of endocrine control?

A

Hypothalamus

330
Q

Hypothalamic Control: Functions - Secretes what? (2)

A

Regulatory hormones for the activity of the anterior pituitary cells
Hormones for the posterior pituitary gland

331
Q

Hypothalamic Control: Functions - Provides direct neural control for what?

A

Adrenaline and Noradrenaline production from the adrenal medulla

332
Q

Genetics: Inframe indels have what outcome?

A

Gain or loss of AA
AA substitutions
Premature stop codons
Defects in splicing

333
Q

Genetics: Out of frame indels have what outcome?

A

Frameshift changes that result in premature truncation of the encoded protein

334
Q

Examples of Monocrine Endocrine Tumour Syndromes (5)

A

Multiple Endocrine Neoplasia Type I
Multiple Endocrine Neoplasia Type II
Von Hippel-Lindau
Neurofibromatosis
Carney Complex

335
Q

MEN1: Abbreviation for what?

A

Multiple Endocrine Neoplasia Type I

336
Q

MEN1: Inheritance pattern

A

Autosomal dominant inheritance

337
Q

MEN1: Genetic mutation where?

A

MEN1 gene of chromosome 11q13 - this is a tumour suppressor

338
Q

MEN1: Mutations have what impact on proteins?

A

Loss or reduced protein function

339
Q

MEN1: What are the 3’Ps?

A

Pancreatic, Parathyroid and Pituitary Gland Tumours

340
Q

MEN1: Why is there a high risk of premature morbidity and mortality?

A

Malignant Pancreatic Neuroendocrine Tumours or Thymic Carcinoids

341
Q

MEN1: Indications for Germline MEN1 Testing (2)

A

1 - >2 MEN1 associated tumours or a diagnosis of familial MEN1 or suspected MEN1 based off clinical history
2 - First degree relative of a family member with a known mutation

342
Q

MEN1: MEN1 gene function

A

Involved in cell response to DNA damage, chromatin remodelling and cell signalling pathway regulation

343
Q

MEN1: What pancreatic tumours may develop?

A

Insulinoma

344
Q

MEN1: When should testing be conducted in asymptomatic individuals?

A

Under the age of 5 years

345
Q

Multiple Endocrine Neoplasia Type I

A

Endocrine cancer syndrome characterised primarily by tumours of the parathyroid glands, endocrine gastroenteropancreatic tract and anterior pituitary

346
Q

Multiple Endocrine Neoplasia Type II

A

Familial cancer syndrome that is associated with medullary thyroid cancer and phaeochromocytoma

347
Q

MEN2: Inheritance pattern

A

Autosomal dominant inheritance

348
Q

MEN2: Mutations affect what gene?

A

RET gene of chromosome 10q

349
Q

MEN2: Function of RET gene

A

Proto-oncogene

350
Q

MEN2: Mutation pathophysiology

A

Specific cysteine residues result in the activation of receptor tyrosine kinases

351
Q

MEN2: MEN2b mutations have a high risk of what?

A

De novo type - not familial pattern

352
Q

MEN2: MEN2a description

A

Combination of medullary thyroid cancer in association with phaeochromocytoma and parathyroid tumours

353
Q

MEN2: MEN2a - Alternate name

A

Sipple syndrome

354
Q

MEN2: MEN2a - Phaechromocytoma may occur where?

A

Extra-adrenal sites

355
Q

MEN2: MEN2a - Linked. towhat type of mutation?

A

Germline gain of function mutations

356
Q

MEN2: MEN2b - Description

A

Medullary Thyroid Cancer and Phaeochromocytoma in association with Marfanoid Habitus, Mucosal neuromas, Medullated corneal fibres and intestinal autonomic ganglion dysfunction

357
Q

MEN2: MEN2b - First manifestation

A

Medullary Thyroid Cancer

358
Q

MEN2: MEN2b - Medullary Thyroid Cancer derives from what?

A

Parafollicular C cells

359
Q

MEN2: MEN2b - Clinical presentation of Medullary Thyroid Cancer (5)

A

Neck mass
Diarrhoea
Vomiting
Ectopic ACTH
Cushing’s Syndrome

360
Q

MEN2: MEN2b - Clinical presentation of Medullary Thyroid Cancer (5)

A

Neck mass
Diarrhoea
Vomiting
Ectopic ACTH
Cushing’s Syndrome

361
Q

MEN2: MEN2b - How are the mutations distinguished from MEN2a mutations?

A

MEN2b also germline but always activating point mutation in the catalytic domain of the encoded enzyme

362
Q

MEN2: MEN2b - Phaeochromocytoma diagnosis

A

Elevated urinary or plasma metanephrines

363
Q

MEN2: MEN2b - Phaeochromocytoma Management

A

Surgery with pre-operative management

364
Q

MEN2: MEN2b - Primary Hyperparathyroidism Management

A

Surgical removal of enlarged or overactive parathyroid glands

365
Q

MEN2: MEN2b - MTC Diagnosis

A

Neck US + Fine Needle Aspiration + Basal Serume Calcitonin + Carcinoembryonic Antigen

366
Q

MEN2: MEN2b - MTC Management (Localised and Advanced Disease)

A

Localised - curative surgery of thyroidectomy with extent lymph node dissection
Advanced - Tyrosine Kinase Inhibitors

367
Q

VHL

A

Von Hippel-Lindau

368
Q

Von Hippel-Lindau

A

Inherited disorder causing multiple tumours (benign and malignant) in the CNS and viscera

369
Q

VHL: Inheritance pattern

A

Autosomal dominant

370
Q

VHL: Pathophysiology

A

VHL gene mutation leading to an accumulation of HIF proteins and stimulation of cellular proliferation

371
Q

VHL: Leads to the development of what?

A

Vascular tumours

372
Q

VHL: Types - I Mutation

A

Deletion, Nonsense, Frameshift and Missense Mutations

373
Q

VHL: Types - I Presentation

A

CNS or Retinal Haemangioblastoma OR Clear Cell Renal Cell Carcinoma

374
Q

VHL: Types - II Mutation and Example

A

Missense Mutation
Example - Tyr112His

375
Q

VHL: Types - II Presentation

A

CNS and Retinal Haemangioblastoma OR Phaeochromocytoma

376
Q

VHL: Types - III Mutations and Example

A

Due to missense mutations
p.Arg167Gly

377
Q

VHL: Types - III Presentation

A

CNS or Retinal Haemangioblastoma OR Clear Renal Cell Carcinoma OR Phaeochromocytoma

378
Q

VHL: Types - IV Mutations and Example

A

Due to Missense mutations
Example - p.Leu188Val

379
Q

VHL: Types - IV Presentation

A

Phaeochromocytoma

380
Q

VHL: Diagnosis - Retinal Angioma

A

Opthalmic examinations annually from infancy

381
Q

VHL: Diagnosis - CNS Haemangioblastoma

A

MRI scan of the head every 12-36 months beginning in adolescence

382
Q

VHL: Diagnosis - Renal Cell Carcinoma and Pancreatic Tumours

A

MRI or US examination of the abdomen every 12 months from 16

383
Q

VHL: Diagnosis - Phaeochromocytoma or Paraganglioma

A

Blood pressure monitoring and 24-hour urine or fractionated metanephrines annually

384
Q

VHL: Diagnosis - Families at high risk

A

Measure fractionated plasma metanephrines and Adrenal imaging annually rom the age of 8

385
Q

Neurofibromatosis Type I: Pathophysiology

A

Mutation of the NF1 gene causing tumours along the nervous system

386
Q

Neurofibromatosis Type I: Diagnosis

A

> 2 of the following diagnostic factors:

  • > 6 cafe au lait patches
  • Neurofibromas of any time or one flexiform neurofibroma
  • Axillary or inguinal freckling
  • Optic glioma
  • > 2 Lisch Nodules
  • Distinctive osseous lesion - sphenoid dysplasia or thinning of the long bone cortex +/- pseudoarthritis
  • Frist degree relative with NF1
387
Q

Neurofibromatosis Type I: Rare clinical features (3)

A

Scoliosis
Learning difficulties
Phaeochromocytoma

388
Q

Carney Complex

A

Genetic disorder characterised by multiple benign tumours most often affecting the heart, skin and endocrine system with abnormalities with skin pigmentation

389
Q

Carney Complex: Pathophysiology

A

PRKAR1A Mutation causing defective regulatory subunits to cause abnormal PA signalling and uncontrolled proliferation

390
Q

Carney Complex: Clinical Presentation - Primary presentation

A

Pigmented nodular adrenocortical disease - adrenal glands produce excess cortisol to cause Cushing’s Syndrome

391
Q

Carney Complex: Clinical Presentation - Impact on skin

A

Spotty skin pigmentations - on lips, conjunctiva, inner or outer canthi or the genital mucosa

392
Q

Carney Complex: Clinical Presentation - Myxoma of what? (3)

A

Cutaneous layer
Mucosa
Heart

393
Q

Carney Complex: Clinical Presentation - Impact on breast

A

Breast Myxomatosis

394
Q

Carney Complex: Clinical Presentation - Impact on Adrenal Glands

A

Primary Pigmented Nodulra Adrenocortical Disease

395
Q

Carney Complex: Clinical Presentation - Presentation on Liddle’s Test

A

Paradoxical Positive Response of Urinary Glucocorticosteroids to Dexamethasone Administration

396
Q

Carney Complex: Clinical Presentation - What happens as a result of GH-producing adenoma?

A

Acromegaly

397
Q

Carney Complex: Clinical Presentation - Impact on Thyroid (2)

A

Thyroid carcinoma
Multiple hypoechoic nodules on thyroid ultrasonography of a prepubertal child

398
Q

McCune-Albright Syndrome: Pathophysiology

A

Post-zygotic somatic mutation of GNAS resulting in mosaicism resulting in constitutive adenylyl cyclase signalling and overproduction of hormones

399
Q

McCune-Albright Syndrome

A

Genetic disorder affecting the bone skin and endocrine systems

400
Q

McCune-Albright Syndrome: Clinical Presentation - Skin

A

Cafe Au Lait Skin Pigmentation

401
Q

McCune-Albright Syndrome: Clinical Presentation - Bones

A

Polyostotic Fibrous Dysplasia

402
Q

McCune-Albright Syndrome: Clinical Presentation - Thyroid

A

Nodule production

403
Q

McCune-Albright Syndrome: Clinical Presentation - Hormone disorders (3)

A

Precocious Puberty in females
Pituitary gland GH excess
Cushing’s Syndrome

404
Q

Imaging: Pituitary Gland - Found within what?

A

Sella turcica - bony depression of the cranium

405
Q

Imaging: Pituitary Gland - Connected to the brain via what?

A

Pituitary stalk

406
Q

Imaging: Pituitary Gland - Closely related to what sinus?

A

Sphenoid Sinus

407
Q

Imaging: Pituitary Gland - Found inferior to what? (2)

A

Optic chiasm
Hypothalamus

408
Q

Imaging: Pituitary Gland - What is located laterally?

A

Carotid arteries

409
Q

Imaging: Pituitary Gland - Well seen on what scan?

A

MRI

410
Q

Imaging: Thyroid Gland - Right and left lobes connected by what?

A

Isthmus

411
Q

Imaging: Thyroid Gland - Right and left lobes connected by what?

A

Isthmus

412
Q

Imaging: Thyroid Gland - Deep to what?

A

Strap muscles of the neck

413
Q

Imaging: Thyroid Gland - Anterior to what? (2)

A

Trachea
Oesophagus

414
Q

Imaging: Thyroid Gland - Medial to what? (2)

A

Common carotid arteries
Internal jugular veins

415
Q

Imaging: Thyroid Gland - Superior to what? (3)

A

Sternum
Great vessels
Aortic arch

416
Q

Imaging: Thyroid Gland - Well visualised on what?

A

CT
US

417
Q

Imaging: Thyroid Gland - US can be combined with what other investigation for Euthyroid patients with Goitre/palpable nodules or hyperthyroid patients?

A

Fine needle aspiration

418
Q

Imaging: Thyroid Gland - Thyroid Scintigraphy process

A

I-123 or Tc-99m used locally and injected into patients with imaging within 20 minutes

419
Q

Imaging: Adrenal Glands - Location

A

Retroperitoneal Suprarenal position

420
Q

Imaging: Adrenal Glands - Right Adrenal Gland is posterior to what?

A

IVC

421
Q

Imaging: Adrenal Glands - Left Adrenal Gland lateral to what? (2)

A

Aorta
Diaphragmatic Crus

422
Q

Imaging: Adrenal Glands - Well visualised on what?

A

CT
MRI

423
Q

Pituitary Gland: Histology - Anterior lobes consist of what?

A

Islands with cords of cells

424
Q

Pituitary Gland: Histology - Posterior lobes cocnst of what?

A

Non-myelinated axons of neurosecretory neurones

425
Q

Pituitary Gland: Anterior Lobe Histology - Acidophil cells (2)

A

Somatotrophs
Mammotrophs

426
Q

Pituitary Gland: Anterior Lobe Histology - Basophil Cells (3)

A

Corticotrophs
Thyrotrophs
Gonadotrophs

427
Q

Pituitary Gland: Anterior Lobe Histology - Somatotrophs produce what?

A

Growth Hormone

428
Q

Pituitary Gland: Anterior Lobe Histology - Somatotrophs produce what?

A

Growth HormonePituitary Gland: Anterior Lobe Histology - Mammotrophs produce what?

429
Q

Pituitary Gland: Anterior Lobe Histology - Corticotrophs produce what?

A

ACTH

430
Q

Pituitary Gland: Anterior Lobe Histology - Thyrotrophs produce what?

A

TSH

431
Q

Pituitary Gland: Anterior Lobe Histology - Gonadotrophs produce what?

A

FSH
LH

432
Q

Pituitary Gland: Hyperfunction - Can occur due to what? (2)

A

Adenoma
Carcinoma

433
Q

Pituitary Gland: Hypofunction - Can occur due to what? (8)

A

Iatrogenic - Surgery or Radiation
Haemorrhage - in the gland or subarachnoid haemorrhage
Ischaemic Necrosis
Tumours extending into the sella
Granulomatous inflammatory conditions
Sheehan Syndrome
Apoplexy
Hypothalamic lesions

434
Q

Pituitary Gland: Hypofunction - Example of Tymours in the sella

A

Rathke Cleft Cysts

435
Q

Pituitary Gland: Hypofunction - Examples of Granulomatous Inflammatory Conditions (2)

A

Sarcoidosis
Tuberculous Meningitis

436
Q

Pituitary Gland: Hypofunction - Presentation of Apoplexy (3)

A

Headache
Diplopia - due to pressure on CN III
Hypopituitarism

437
Q

Pituitary Gland: Hypofunction - Complications of Apoplexy

A

Cardiovascular collapse and loss of consciousness

438
Q

Pituitary Gland: Hypofunction - Benign Hypothalamic lesion

A

Cranipharyngioma

439
Q

Pituitary Gland: Hypofunction - Malignant lesion

A

Glioma

440
Q

Pituitary Gland: Dysfunction of the Posterior Pituitary Gland - Diabetes Insipidus

A

Lack of ADH secretion causes dehydration

441
Q

Pituitary Gland: Dysfunction of the Posterior Pituitary Gland - SIADH abbreviation

A

Syndrome of Inappropriate ADH secretion

442
Q

Pituitary Gland: Dysfunction of the Posterior Pituitary Gland - SIADH Pathology

A

Ectopic secretion of ADH by tumours

443
Q

Adrenal Glands: Aetiologies of Disease (4)

A

Pituitary disease - ACTH secreted from adenoma
Ectopic ACTH secretion
Shock of Disseminated Intravascular Coagulation
Damage to adrenal tissue

444
Q

Adrenal Glands: Causes of hyperfunction (3)

A

Hyperplasia
Adenoma
Carcinoma

445
Q

Adrenal Glands: Acute cause of hypofunction

A

Waterhouse-Friderichsen

446
Q

Adrenal Glands: Acute cause of hypofunction

A

Waterhouse-Friderichsen

447
Q

Adrenal Glands: Chronic cause of hypofunction

A

Addison’s Disease

448
Q

Pregnancy: Ovarian Cycle - Length

A

28 days

449
Q

Pregnancy: Ovarian Cycle - Day 1 event

A

First day of menstruation

450
Q

Pregnancy: Ovarian Cycle - Length of menstruation

A

4-5 days

451
Q

Pregnancy: Ovarian Cycle - Follicular phase

A

Follicle grows so the ovum produces Oestradiol and develops the egg

452
Q

Pregnancy: Ovarian Cycle - Day 12-14

A

Surge in LH and FSH

453
Q

Pregnancy: Ovarian Cycle - Day 14

A

Stimulated ovulation

454
Q

Pregnancy: Ovarian Cycle - Luteal Phase

A

Luteum produces progesterone and oestradiol following fertilisation

455
Q

Pregnancy: Ovarian Cycle - Implantation stimulates production of what?

A

HCG

456
Q

Pregnancy: Ovarian Cycle - Placenta produces what?

A

hPL
Placental progesterone
Placental oestrogens

457
Q

Pregnancy: Ovarian Cycle - Following delivery what does the pituitary gland produce?

A

Prolactin

458
Q

Pregnancy: Human Chorionic Gonadotropin - Produced from what?

A

Fertilised implanted egg

459
Q

Pregnancy: Human Placental Lactogen - Produced by what?

A

Placental

460
Q

Pregnancy: Human Placental Lactogen - Function

A

Stimulates breast development

461
Q

Pregnancy: Human Placental Lactogen - Impact on endocrine system

A

Causes Insulin resistance

462
Q

Pregnancy: Insulin Resistance - Hormone risk factors (2)

A

Placental Progesterones
hPL

463
Q

Pregnancy: Insulin Resistance - Pathophysiology

A

Insulin acts as a co-gonadotrophin. toLH
Insulin reduces Sex-Hormone Binding Globulin to increase free testosterone > hyperandrogenism

464
Q

Pregnancy: Diabetes - Complications of Diabetes during pregnancy (6)

A

Congenital malformation
Prematurity
Intra-uterine Growth Retardation
Macrosomia
Polyhydramnios
Intrauterine death

465
Q

Polyhydramnios

A

Excess fluid around the baby

466
Q

Pregnancy: Diabetes - Complications of Diabetes in the Neonate (4)

A

Respiratory distress
Hypoglycaemia
Hypocalcaemia
CNS defects
Genital or GI abnormalities

467
Q

Pregnancy: Diabetes - Examples of CNS defect complications in Neonates (3)

A

Anencephaly
Spina Bifida
Caudal Regression Syndrome

468
Q

Pregnancy: Diabetes - When does the foetus produce its own insulin?

A

Third trimester

469
Q

Pregnancy: Diabetes Management - Folic Acid Dose

A

5mg - start 3 months early

470
Q

Normal (non-DM) Folic Acid Dose

A

400 micrograms

471
Q

Pregnancy: Diabetes Management - Eye check regularity

A

10, 20 and 30 weeks gestation due to accelerated retinopathy

472
Q

Pregnancy: Diabetes Management - Avoid what drugs? (2)

A

ACEI
Statins

473
Q

Pregnancy: Diabetes Management - Use what drugs for Blood Pressure? (3)

A

Labetalol
Nifedipine
Methyl-DOPA

474
Q

Pregnancy: Diabetes Management - Aspirin dose

A

150mg at week 12 in high risk pregnancies

475
Q

Pregnancy: Diabetes Management - Type I DM

A

Insulin

476
Q

Pregnancy: Diabetes Management - Type II DM

A

Metformin with insulin later on in the pregnancy

477
Q

Pregnancy: Diabetes Management - How to maintain blood glucose during labour?

A

IV insulin and dextrose

478
Q

Pregnancy: Gestational Diabetes Monitoring after pregnancy

A

Post-natal fasting glucose, HbA1c or GTT 6 weeks after birth

479
Q

Pregnancy: Thyroid Gland - Maternal … is important for neonatal development

A

Thyroxine

480
Q

Pregnancy: Thyroid Gland - Impact on the maternal thyroid gland (3)

A

Increase in size
Increased T4 production
Plasma protein binding increases

481
Q

Pregnancy: Thyroid Gland Hypothyroidism - If pre-existing hypothyroidism what is the management?

A

Increase thyroxine dose by 25 mcg as soon as pregnancy is suspected and then increase by 50% by 20 weeks

482
Q

Pregnancy: Thyroid Gland Hypothyroidism - Pre-existing Hypothyroidism Monitoring

A

Check Thyroid Function Tests for the first 20 weeks then 2 monthly until full term

483
Q

Pregnancy: Thyroid Gland Hypothyroidism - Aim for TSH for Pre-existing Hypothyoidism

A

<3-4 mU/L

484
Q

Pregnancy: Thyroid Gland Hypothyroidism - Complications (6)

A

Increased abortion rate
Pre-eclampsia
Abruption
Post-partum haemorrhage
Preterm labour
Foetal neuropsychological development

485
Q

Pregnancy: Thyroid Gland Hypothyroidism - What hormone stimulates the thyroid gland in pregnancy?

A

hCG

486
Q

Pregnancy: Thyroid Gland Hypothyroidism - hCG suppresses what and how?

A

TSH by increasing thyroxine

487
Q

Pregnancy: Thyroid Gland Hypothyroidism - What is similar about hCG and TSH?

A

Identical alpha chain in protein

488
Q

Pregnancy: Thyroid Gland Hypothyroidism - High hCG can mimic what?

A

Hyperthyroidism - shows weight loss and nausea too

489
Q

Pregnancy: Thyroid Gland Hypothyroidism - Hyperemesis Gravidarum

A

Rapid increase in hCG increases free T4 and low TSH

490
Q

Pregnancy: How does Hyperemesis Gravidarum differ from Hyperthyroidism?

A

Gestational Hyperemesis has:
- Increased hCG causes decreased TSH
- No TRab Antibody positive
- Resolves by 20 weeks gestation

491
Q

Pregnancy: Thyroid Gland Hyperthyroidism - Aetiologies (4)

A

Graves’ Disease
Toxic Multi-nodular Goitre
Toxic adenoma
Thyroiditis

492
Q

Pregnancy: Thyroid Gland Hyperthyroidism - Complications (5)

A

Infertility
Ammenorhoea
Still birth
Thyroid crisis in labour
Transient neonatal thyrotoxicosis

493
Q

Pregnancy: Thyroid Gland Graves’ Disease - Monitoring

A

Check TRAB antibodies in the third trimester

494
Q

Pregnancy: Thyroid Gland Graves’ Disease - Impact on neonate

A

TRAb can cross the placenta to cause neonatal transient hyperthyroidism

495
Q

Pregnancy: Thyroid Gland Hyperthyroidism - Anti-thyroid drugs for first trimester

A

Propylthiouracil

496
Q

Pregnancy: Thyroid Gland Hyperthyroidism - Anti-thyroid drugs for second or third trimester

A

Carbimazole

497
Q

Pregnancy: Carbimazole - Main concern

A

Embyropathy in third trimester

498
Q

Pregnancy: Carbimazole - Side effects (4)

A

Scalp abnormalities
GI abnormalities
Choanal atresia
Oesophageal atresia

499
Q

Pregnancy: Propylthiouracil - Side effect

A

Risk of liver toxicity

500
Q

Pregnancy: Post-Partum Thyroiditis - Clinical Presentation (3)

A

Small diffuse non-tender goitre
Hypothyroid phases causes post-natal depression
Exacerbates all autoimmune disease

501
Q

Thyrotropin-Releasing Hormone: What stimulates release?

A

Exposure to the cold

502
Q

Thyrotropin-Releasing Hormone: Exposure to the cold starts pathway how?

A

Signals to the hypothalamus to stimulate the release of TRH

503
Q

Thyrotropin-Releasing Hormone: TRH stimulates what structure and what function?

A

Anterior pituitary gland to releases Thyrotropin (TSH)

504
Q

Thyrotropin-Releasing Hormone: TSH has what function?

A

Stimulates the thyroid to release Thyroxine

505
Q

Thyrotropin-Releasing Hormone: Negative Feedback loop of this feedback loop

A

Thyroxine inhibits the anterior pituitary

506
Q

Gonadotropin Releasing Hormone: Hypothalamus secretes what hormone?

A

Gonadotropin Releasing Hormone

507
Q

Gonadotropin Releasing Hormone: Acts on What organ?

A

Pituitary gland

508
Q

Gonadotropin Releasing Hormone: GnRH acts on the pituitary gland to have what action?

A

LH
FSH

509
Q

Gonadotropin Releasing Hormone: LH and FSH acts on testes to do what?

A

Produce Testosterone

510
Q

Gonadotropin Releasing Hormone: LH and FSH act on the ovaries to do what?

A

Produce Oestrogen and Progesterone

511
Q

Gonadotropin Releasing Hormone: Testosterone acts on what?

A

Muscle
Bone
Libido
Penis
Hair follicles

512
Q

Gonadotropin Releasing Hormone: Oestrogen and Progesterone act on what?

A

Bone
Fat
Vagina
Heart
Liver

513
Q

Corticotrophin Releasing Hormone: Where is this secreted from?

A

Hypothalamus

514
Q

Corticotrophin Releasing Hormone: Acts on what organ to do what?

A

Pituitary gland - to secrete ACTH

515
Q

Corticotrophin Releasing Hormone: ACTH acts on what to do what?

A

Adrenal glands to secrete cortisol

516
Q

Corticotrophin Releasing Hormone: End effects of cortisol (4)

A

Regulates glucose levels
Increase body fat
Helps defend the body against infection
Response to stress

517
Q

Function of Dopamine in the HPA axis

A

Inhibitory effect on the Anterior Pituitary Gland to inhibit prolactin release

518
Q

Hormones: Steroid hormone Pair

A

ACTH
Cortisol

519
Q

Hormones: Thyroid Hormone Pair

A

TSH
Thyroxine

520
Q

Hormones: Sex Hormone Pair

A

LH/FSH
Testosterone or Oestradiol

521
Q

Hormones: Grwoth Hormone Pair

A

Growth Hormone
IGF–1

522
Q

Stimulation Tests: Synacthen Test process

A

Synthetic ACTH is administered and cortisol is measured at 0, 30, 60 minutes

523
Q

Stimulation Tests: Synacthen test normal result

A

Cortisol reaches by 150 to reach 500

524
Q

Stimulation Tests: Insulin Stress Test or Prolonged Glucagon Test process

A

Cortisol and Growth Hormone to Insulin tested every 30 minutes for 2-3 hours

525
Q

Stimulation Tests: Insulin Stress Test Normal cortisol level

A

> 500

526
Q

Stimulation Tests: Insulin Stress Test Normal GH

A

> 7 ug/L

527
Q

Calcium Metabolism: What organ is involved in this?

A

Parathyroid Glands

528
Q

Calcium Metabolism: What receptor type is used to sense Calcium?

A

G protein coupled receptor

529
Q

Calcium Metabolism: Increased calcium activates the receptor to have what effect?

A

Inhibit PTH secretion

530
Q

Infertility

A

Failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse in a couple who have never had a child

531
Q

Primary Infertility

A

Couple have never conceived

532
Q

Secondary Infertility

A

The couple have previously conceived - however the pregnancy was not successful e.g. miscarriage or ectopic pregnancy

533
Q

Infertility: What increases the chance of conception? (8)

A

Woman <30 years
Previous Pregnancy
Less than 3 years trying to conceive
Intercourse occurring around ovulation
Woman BMI - 18.5-30
Both partners are non-smokers
Caffeine uptake <2 cups per day
No use of recreational drugs

534
Q

Infertility: Aetiologies (5)

A

Tubal disease
Fibroids
Endometriosis or Adenomyosis
Weight-related
Age-related

535
Q

Female Investigations of Infertility: Bloods to test for what?

A

Rubella

536
Q

Female Investigations of Infertility: Mid-luteal progesterone level measured when?

A

Day 21 of 28 day cycle or 7 days prior to expected period in prolonged cycles

537
Q

Female Investigations of Infertility: Progesterone level that is suggestive of ovulation

A

> 30 nmol/L

538
Q

Female Investigations of Infertility: What tests can be conducted for tubal pregnancy? (3)

A

Hysterosalpingiogram
Hycosy
Laparoscopy

539
Q

Female Investigations of Infertility: When is laparoscopy contraindicated?

A

If there is no known risk factors

540
Q

Female Investigations of Infertility: Hysteroscopy conducted when?

A

If there is suspected or known endometrial pathology - Uterine Septum Adhesions or Polyp

541
Q

Female Investigations of Infertility: When is a pelvic ultrasound performed?

A

Abnormality on pelvic examination e.g. enlarged uterus or adnexal mass

542
Q

Female Investigations of Infertility: What should be tested if anovulatory cycle or infrequent periods (7)

A

Urine hCG
Prolactin
TSH
Testosterone and SHBG
LH
FSH
Oestradiol

543
Q

Female Investigations of Infertility: What should be tested if hirsuitism is present? (2)

A

Testosterone
SHBG

544
Q

Female Investigations of Infertility: What should be tested if amenorrhoea is present? (2)

A

Endocrine profile
Chromosome analysis

545
Q

Male Investigations of Infertility: Semen analysis frequency of testing

A

Twice over 6 weeks apart

546
Q

Male Investigations of Infertility: Normal semen volume

A

> 1.5 mL

547
Q

Male Investigations of Infertility: Normal semen pH

A

7.2-7.8

548
Q

Male Investigations of Infertility: If abnormal semen what should be tested? (4)

A

LH
FSH
Testosterone
Prolactin
Thyroid function

549
Q

Male Investigations of Infertility: If severely abnormal semen analysis or azoospermic what should be tested? (4)

A

Endocrine profile
Chromosome analysis and Y chromosome deletion analysis
Screen for Cystic Fibrosis
Testicular biopsy

550
Q

Male Investigations of Infertility: What should be conducted if there is abnormality on genital examination?

A

Scrotal ultrasound

551
Q

Infertility: Management - Folic Acid dose

A

400 micrograms daily before pregnancy and within first 12 weeks
5mg a day for women planning pregnancy

552
Q

Infertility: Management - Use 5mg of folic acid if in the early stages what presents? (4)

A

Neural tube defect
Previous baby with neural tube defect
Family history of neural tube defects
Diabetes

553
Q

Infertility: Management - Vitamin D

A

10 micrograms per day for pregnancy and lactating women or those at risk of Vitamin D deficiency

554
Q

Rubella

A

Group of physical abnormalities that have developed in an infant as a result of maternal infection and subsequent foetal infection with rubella virus

555
Q

Rubella: Clinical Presentation (6)

A

Rash at birth
Low birth weight
Microcephaly
Cataracts
Patent Ductus Arteriosus
Bulging Fontanelle

556
Q

Rubella: What antibody count suggests non-immune?

A

<6U/L of Rubella IgG Antibodies

557
Q

Rubella: Prevention

A

MMR Vaccine

558
Q

Chlamydia Positive Management

A

Immediate Azithromycin 1 gram (if allergic to Macrolides - Doxycycline 100mg twice per day for 7 days

559
Q

Sex Steroid Axis: Pituitary Gland secretes what two gonadotropic hormones? (2)

A

FSH - Follcile Stimulating Hormone
LH - Luteinizing Hormone

560
Q

Sex Steroid Axis: FSH Function in Men

A

Causes the testes to initiate spermatogenesis

561
Q

Sex Steroid Axis: FSH Function in Women

A

Causes the initiation of oogenesis, stimulating the ovaries to secrete oestrogen

562
Q

Sex Steroid Axis: LH Function in Men

A

Causes the testes to secrete testosterone

563
Q

Sex Steroid Axis: LH Function in Women

A

Causes ovulation and progesterone production by the corpus luteum

564
Q

Sex Steroid Axis: GnRH function

A

Enables the release of FSH and LH from the anterior pituitary gland

565
Q

Sex Steroid Axis: High GnRH frequency release has what impact?

A

LH pulses

566
Q

Sex Steroid Axis: Low GnRH frequency release has what impact?

A

FSH pulses

567
Q

Sex Steroid Axis: Structure of GnRH

A

Neuropeptide hormone

568
Q

Sex Steroid Axis: GnRH release in males

A

Constant frequency

569
Q

Sex Steroid Axis: GnRH release in females

A

Pulses are at a frequency dependent on the stage of the menstrual cycle

570
Q

Sex Steroid Axis: Early follicular stage GnRH pulse rate

A

Every 1-2 hours

571
Q

Sex Steroid Axis: Luteal stage GnRH pulse rate

A

Every 4 hours

572
Q

Sex Steroid Axis: Impact of oestrogen on GnRH release?

A

Oestrogen concentrations above the threshold increased HnRH pulsatility to release LH

573
Q

Sex Steroid Axis: Impact of progesterone on GnRH release?

A

Reduced GnRH pulsatility

574
Q

Sex Steroid Axis: Kisspeptin has what function?

A

Regulates GnRH pulsatility as has receptors for Oestrogen and Progesterone

575
Q

Female Reproduction: Follicular/Proliferative Phase characterised by what?

A

Follicular growth

576
Q

Female Reproduction: Luteal/Secretory Phase characterised by what?

A

Bleeding for <7 days

577
Q

Oligomenorrhoea

A

Infrequent periods - cycles of >42 days or <8 periods per year

578
Q

Amenorrhoea

A

Absence of menstruation

579
Q

Female Reproduction: Hormones - FSH function

A

Stimulates the thickening of the endometrium and the growth of ovarian follicles to increase oestrogen

580
Q

Female Reproduction: Hormones - Oestrogen function

A

Negative feedback on the hypothalamus and pituitary gland to lower FSH

581
Q

Female Reproduction: Hormones - Oestrogen reaching the threshold has what impact?

A

Positive feedback to increase FSH and LH surge

582
Q

Female Reproduction: Hormones - Function of LH surge

A

Ovulation and regulation of the formation of the corpus luteum and formation of progesterone

583
Q

Female Reproduction: Hormones - Influence of increased progesterone

A

Decreases LH secretion

584
Q

Female Reproduction: Hormones - What 3 messenger proteins outside of the HPO axis also influence the axis?

A

Activins
Inhibins
Follistatin

585
Q

Female Reproduction: Spinnbarkeit

A

Formation of a thread by mucus from the carvix uteri when spread onto a glass slide and drawn out onto a cover glass

586
Q

Female Reproduction: Oestrogen - Secreted from where? (3)

A

Ovarian follicles
Adrenal cortex
Placenta - during pregnancy

587
Q

Female Reproduction: Oestrogen - function

A

Fertile cervical mucus production and thickening of the endometrium

588
Q

Female Reproduction: Oestrogen - Sustained high oestrogen mid-cycle stimulates what?

A

Secretion of LH and FSH

589
Q

Female Reproduction: Progesterone - Secreted from where?

A

Corpeus luteum
Placenta - during pregnancy

590
Q

Female Reproduction: Progesterone - Functions (4)

A

Inhibits LH secretion
Maintains the thickness of the endometrium
Thermogenic effect to increase basal body temperature
Relaxes smooth muscles

591
Q

Female Reproduction: What does the follicle structure consists of?

A

Oocyte surrounded by follicular cells - granulosa and theca cells

592
Q

Female Reproduction: Endometrium thickens under the influence of what?

A

Oestrogen

593
Q

Female Reproduction: Endometrium becomes a secretory tissue under the infleunce of what?

A

Progesterone

594
Q

Female Reproduction: Follicular growth - Once a follicle becomes a certain size it becomes dependent on what?

A

Gonadotrophins

595
Q

Female Reproduction: Follicular growth - Follicles are lost if they don’t coincide with what?

A

Rise in FSH during the early follicular phase

596
Q

Female Reproduction: Follicular growth - Which follicle will survive?

A

One with the most FSH receptors and high vascularity

597
Q

Female Reproduction: LH Surge - Can help predict what?

A

Ovulation

598
Q

Female Reproduction: LH Surge - LH surge precedes ovulation by what?

A

34-36 hours

599
Q

Female Reproduction: LH Surge - Threshold of oestrogen required for LH surge

A

200 pg/mL

600
Q

Female Reproduction: Corpus Luteum - Formation occurs under the influence of what?

A

LH

601
Q

Female Reproduction: Corpus Luteum - Original cell types (2)

A

Granulosa cells
Theca cells

602
Q

Female Reproduction: Corpus Luteum - Final cell type

A

Luteal cells

603
Q

Female Reproduction: Corpus Luteum - Formation increases the production of what hormone?

A

Progesterone

604
Q

Female Reproduction: Corpus Luteum - LH role in the formation of the corpeus luteum (2)

A

Angiogenesis ensures efficient delivery of cholesterol for progesterone synthesis
Stimulates enzymes involved in the conversion of cholesterol to form progesterone

605
Q

Female Reproduction: Corpus Luteum - LH role in the formation of the corpeus luteum (2)

A

Angiogenesis ensures efficient delivery of cholesterol for progesterone synthesis
Stimulates enzymes involved in the conversion of cholesterol to form progesterone

606
Q

The Cervix: Stroma

A

Collagen matrix and fibroblasts that regulate the rigidity of the cervical wall

607
Q

The Cervix: Structure of the Cervix epithelium

A

Columnar epithelial cells

608
Q

The Cervix: Ability for sperm to penetrate the mucus is determined by what? (4)

A

Thickness of the mucus - hydration of cervical mucus under hormonal control
Motility of sperm
Interactions with ROS
Interactions with mucins

609
Q

The Cervix: Mucus is thinner where?

A

Cervical canal

610
Q

The Cervix: Mucus is thicker where?

A

Secondary grooves

611
Q

Male Reproductive Tract: How long is the spermatogenesis process?

A

70 day process

612
Q

Male Reproductive Tract: Spermatogenesis - Occurs within the testes under the control of what?

A

LH
FSH
Testosterone

613
Q

Male Reproductive Tract: Spermatogenesis - LH stimulates production of what and where?

A

Testosterone in Leydig Cells

614
Q

Male Reproductive Tract: Spermatogenesis - What is the only cell in the testis to present FSH hormone receptor?

A

Sertoli Cells

615
Q

Male Reproductive Tract: Spermatogenesis - FSH of Sertoli Cells has what function? (2)

A

Production of Androgen Binding Proteins
Maintains the Blood-Testis Barrier

616
Q

Male Reproductive Tract: Testes - Mammalian testes consist of what?

A

Seminiferous tubules surrounded by interstitial tissue

617
Q

Male Reproductive Tract: Testes - What cells are present? (5)

A

Leydig cells
Leukocytes
Fibroblasts
Sertoli cells
Germ cells

618
Q

Male Hormones: Endocrine Factors (2)

A

LH
FSH

619
Q

Male Hormones: Paracrine Factors (2)

A

Testosterone
Inhibin

620
Q

Male Hormones: Testosterone - Mostly taken up by what?

A

Sertoli cells

621
Q

Male Hormones: Testosterone - Majority binds to what in circulation? (2)

A

Sex-Hormone Binding Globulin
Albumin

622
Q

Male Hormones: Testosterone - Converted to what highly active form?

A

Dihydrotestosterone

623
Q

Male Hormones: Testosterone - Function in Spermatogenesis (2)

A

Maintains the integrity of the blood-testes barrier
Release of mature spermatozoa from Sertoli Cells by influencing peritubular myoid cells

624
Q

Male Hormones: Dihydrotestosterone - Acts on (5)

A

External genitalia
Sebum production
Prostate development and growth
Skin
Hair follicles

625
Q

Anti-Diuretic Hormone: Function

A

Water balance

626
Q

Anti-Diuretic Hormone: Source

A

Posterior Pituitary Gland

627
Q

Anti-Diuretic Hormone: Increased ADH has what impact?

A

Small volume of concentrated urine with high osmolarity

628
Q

Anti-Diuretic Hormone: Decreased ADH has what impact?

A

Large volume of dilute urine with low osmolarity

629
Q

Anti-Diuretic Hormone: Mechanism of action

A

Increases water reabsorption from the renal tubules

630
Q

Sodium balance is controlled by what?

A

Steroid Hormones from the adrenal glands

631
Q

Mineralocorticoid activity refers to what?

A

Na+ reabsorption in renal tubules in exchange for Potassium and Hydrogen Ions

632
Q

Steroids with Mineralocorticoid Activity? (2)

A

Aldosterone
Cortisol

633
Q

Excess mineralocorticoid activity has what impact on Sodium levels?

A

Increase

634
Q

Anti-Diuretic Hormone: Mineralocorticoid deficiency has what impact on sodium levels?

A

Loss

635
Q

Water and Sodium Balance: Reference Interval

A

135-145 mmol/L

636
Q

Water and Sodium Balance: How is this measured?

A

mmol of Na+/1L of water

637
Q

Water and Sodium Balance: Sodium is confined to where?

A

Extracellular fluid

638
Q

Hyponatraemia: Due to what? (2)

A

Increased sodium loss
Decreased intake of sodium

639
Q

Hyponatraemia: Increased loss of sodium can occur where? (4)

A

Adrenals
Kidneys
Gut
Skin

640
Q

Hyponatraemia: Clinical presentation (2)

A

Decreased excretion of water
Compulsive water drinking

641
Q

Hyponatraemia: Management (2)

A

Increased sodium loss
Fluid restriction

642
Q

Hyponatraemia: Addison’s Disease - How does this lead to Hyponatraemia?

A

Adrenal insufficiency causes causes a reduction in steroid production meaning the kidneys cannot retain sodium

643
Q

Hyponatraemia: Addison’s Disease - Symptoms (2)

A

Dizziness
Excess pigmentation

644
Q

Hyponatraemia: Addison’s Disease - Dizziness occurs why?

A

Hypotension due to reduced ECF volume

645
Q

Hyponatraemia: Addison’s Disease - Excess pigmentation occurs why?

A

Excess ACTH from the pituitary gland contains MSH which is exposed due to protease activity

646
Q

Hypernatraemia: When can excess Sodium intake occur? (2)

A

IV medications
When near drowning

647
Q

Hypernatraemia: Results in what symptoms? (2)

A

Water Loss - like DI
Decreased water intake

648
Q

Hypernatraemia: Management (2)

A

Loop diuretic - increase sodium concentration
AS dextrose - not enough water

649
Q

Oedema: Body reacts to oedema how?

A

Acts as if in dehydrated state - ADH and Aldosterone secreted in an attempt to restore water volume

650
Q

Oedema: Management for an adenomatous patient with too much water and sodium?

A

Loop diuretics - to break the cycle

651
Q

Ovulation: Regular cycles have a mid luteal serum progesterone of what?

A

> 30 nmol/L