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UKMLA Prep > General Principles > Flashcards

General Principles Flashcards

1
Q

What are the four types of child abuse?

A

Neglect, emotional abuse, physical abuse, sexual abuse

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2
Q

What legal framework governs child protection in the UK?

A

The Children’s Act of 1989 and 2004

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3
Q

When were the NICE guidelines on child maltreatment published?

A

2009

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4
Q

List two features where you should consider abuse in cases of neglect.

A
  • Severe and persistent infestations (e.g. Scabies or head lice)
  • Parents who do not administer essential prescribed treatment
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5
Q

List two features where you should suspect abuse in cases of neglect.

A
  • Failure to seek medical advice which compromises the child’s health
  • Child who is persistently smelly and dirty
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6
Q

List two features where you should consider abuse in cases of sexual abuse.

A
  • Persistent dysuria or anogenital discomfort without a medical explanation
  • Gap in anus during examination without a medical explanation
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7
Q

List two features where you should suspect abuse in cases of sexual abuse.

A
  • Persistent or recurrent genital or anal symptoms associated with a behavioral or emotional change
  • STI in a child younger than 12 years
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8
Q

List two features where you should consider abuse in cases of physical abuse.

A
  • Any serious or unusual injury with an absent or unsuitable explanation
  • Cold injuries in a child with no medical explanation
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9
Q

List two features where you should suspect abuse in cases of physical abuse.

A
  • Bruising, lacerations or burns in a child who is not independently mobile
  • One or more fractures if there is an unsuitable explanation
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10
Q

What is the first fine motor milestone a child typically reaches?

A

Reaches for object (3 months)

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11
Q

At what age can a child typically build a tower of 3 blocks?

A

18 months

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12
Q

What is the major gross motor milestone at 3 months?

A

Laughs and enjoys friendly handling

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13
Q

At what age does a child typically start using a spoon competently?

A

2 years

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14
Q

What milestone is typically reached by a child at 2 years in terms of drawing?

A

Copies a line

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15
Q

What are the three types of consent?

A

Informed, expressed, implied

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16
Q

What is Consent Form 1 used for in the UK NHS?

A

For competent adults who are able to consent for themselves where consciousness may be impaired

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17
Q

What are the key points to determine a patient’s capacity?

A
  • Understand and retain information
  • Patient believes the information to be true
  • Patient is able to weigh the information to make a decision
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18
Q

What is the requirement for a young person under 16 years regarding consent for contraceptives?

A

The young person must understand the professional’s advice and cannot be persuaded to inform their parents

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19
Q

What is the Guthrie test used to screen for?

A
  • Hypothyroidism
  • Phenylketonuria
  • Galactosaemia
  • Maple syrup urine disease
  • Homocystinuria
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20
Q

What adverse effects may occur after the first dose of the MMR vaccine?

A
  • Malaise
  • Fever
  • Rash
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21
Q

What is the principal neurotransmitter in the somatic nervous system?

A

Acetylcholine (ACh)

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22
Q

What condition is associated with decreased levels of acetylcholine in the central nervous system?

A

Alzheimer’s disease

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23
Q

What is alkaptonuria caused by?

A

A lack of the enzyme homogentisic dioxygenase (HGD)

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24
Q

What are the features of biotin deficiency?

A
  • Alopecia
  • Dermatitis
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25
Q

What role do cadherins play in the body?

A

Cell adhesion

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26
Q

What is the function of beta-endorphin?

A

It is an endogenous opioid peptide neurotransmitter

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27
Q

What is the function of biotin (vitamin B7)?

A

Cofactor for multiple carboxylation enzymes

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28
Q

What is alopecia?

A

Alopecia is hair loss.

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29
Q

What is dermatitis?

A

Dermatitis is inflammation of the skin.

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30
Q

What are cadherins?

A

Cadherins are ‘calcium-dependent adhesion’ proteins that play a role in cell adhesion.

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31
Q

Name an example of a cadherin found in epithelial tissues.

A

E-cadherin.

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32
Q

What condition is associated with antibodies against desmoglein 3?

A

Pemphigus vulgaris.

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33
Q

What is the primary hormone released from parafollicular cells in response to hypercalcaemia?

A

Calcitonin.

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34
Q

What are the two main hormones controlling calcium metabolism?

A
  • Parathyroid hormone (PTH)
  • 1,25-dihydroxycholecalciferol (calcitriol)
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35
Q

What are the actions of parathyroid hormone? (6)

A
  • Increases plasma calcium
  • Decreases plasma phosphate
  • Increases renal tubular reabsorption of calcium
  • Increases osteoclastic activity
  • Increases renal conversion of 25-hydroxycholecalciferol to 1,25-dihydroxycholecalciferol
  • Decreases renal phosphate reabsorption
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36
Q

What are the actions of 1,25-dihydroxycholecalciferol?

A
  • Increases plasma calcium
  • Increases plasma phosphate
  • Increases renal tubular reabsorption and gut absorption of calcium
  • Increases osteoclastic activity
  • Increases renal phosphate reabsorption
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37
Q

What regulates the cell cycle?

A

The cell cycle is regulated by proteins called cyclins.

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38
Q

What phase of the cell cycle is characterized as the resting phase?

A

G0 phase.

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39
Q

What occurs during the G1 phase of the cell cycle?

A

Cells increase in size and prepare for DNA synthesis.

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40
Q

What is the primary function of the rough endoplasmic reticulum?

A

Translation and folding of new proteins.

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41
Q

What is the most abundant protein in the human body?

A

Collagen.

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42
Q

Describe the structure of collagen.

A

Collagen has a triple-helix structure consisting of three polypeptide chains.

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43
Q

What type of collagen is associated with osteogenesis imperfecta?

A

Type I collagen.

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44
Q

What type of mutation results in a stop codon?

A

Nonsense mutation.

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45
Q

What is the role of DNA helicase in DNA replication?

A

Unwinds the DNA double helix at the replication fork.

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46
Q

What distinguishes the leading strand from the lagging strand in DNA replication?

A

The leading strand is synthesized continuously, while the lagging strand is synthesized in short bursts (Okazaki fragments).

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47
Q

What is the function of glucokinase?

A

Phosphorylates glucose to glucose-6-phosphate.

48
Q

What neurotransmitter is the principal inhibitory neurotransmitter of the cortex?

A

GABA.

49
Q

What is classic galactosemia caused by?

A

Galactose-1-phosphate uridyltransferase deficiency.

50
Q

What are the symptoms of hereditary fructose intolerance?

A
  • Vomiting
  • Hypoglycemia
  • Jaundice
  • Hepatomegaly
  • Hyperuricaemia
51
Q

What is the effect of a competitive inhibitor on Km?

A

Increases Km.

52
Q

What is the effect of a non-competitive inhibitor on Vmax?

A

Decreases Vmax.

53
Q

What is Stiff Person Syndrome associated with?

A

Auto-antibodies against GAD.

54
Q

Which enzyme converts glutamate into GABA?

A

Glutamate decarboxylase (GAD).

55
Q

What is responsible for the conversion of GAD?

A

AD (Amino Acid Decarboxylase)

Loss of GAD can result in stiff person syndrome.

56
Q

What neurological disorder is characterized by auto-antibodies against GAD?

A

Stiff person syndrome

Symptoms include muscle stiffness and spasms, and patients may develop diabetes mellitus.

57
Q

What neurotransmitter acts as an excitatory neurotransmitter in the central nervous system?

A

Glutamate

It is synthesized from glutamine by the glutaminase enzyme.

58
Q

What role does glutamate play in memory and learning?

A

Long-term potentiation

High levels of glutamate may contribute to excitotoxicity following a stroke.

59
Q

What are the types of glutamate receptors? (5)

A
  • NMDA
  • AMPA
  • Kainate
  • Metabotropic type I
  • Metabotropic type II/III

Each receptor has specific functions and mechanisms.

60
Q

What is the principal inhibitory neurotransmitter of the spinal cord?

A

Glycine

It is one of the 20 amino acids required by the body to make proteins.

61
Q

Is glycine considered an essential amino acid?

A

No

Glycine can be synthesized from serine in the human body.

62
Q

What is the major pathway for glycine breakdown?

A

Glycine cleavage system

It largely acts in the liver.

63
Q

What is glycine encephalopathy?

A

A rare autosomal recessive disorder characterized by myoclonic seizures soon after birth

It is caused by high levels of glycine in the blood and CSF due to a defect in the glycine cleavage system.

64
Q

What does the Golgi apparatus do?

A

Modifies, sorts, and packages molecules destined for cell secretion

It plays a crucial role in cellular processing and transport.

65
Q

What is I-cell disease?

A

A type of lysosomal storage disease caused by a defect in N-acetylglucosamine-1-phosphate transferase

It results in failure of the Golgi apparatus to transfer phosphate to mannose residues on specific proteins.

66
Q

What are the clinical features of I-cell disease?

A
  • Coarse facial features
  • Restricted joint movement
  • Clouding of the cornea
  • Hepatosplenomegaly

These features are similar to those found in Hurler syndrome.

67
Q

What is Von Gierke’s disease characterized by?

A

Deficiency of glucose-6-phosphatase

Key features include hepatic glycogen accumulation, hypoglycemia, and lactic acidosis.

68
Q

What is Pompe’s disease caused by?

A

Deficiency of lysosomal alpha-1,4-glucosidase

Key features include cardiac, hepatic, and muscle glycogen accumulation.

69
Q

What defect causes Tay-Sachs disease?

A

Hexosaminidase A deficiency

This leads to accumulation of GM2 ganglioside within lysosomes.

70
Q

What is the primary location for iron absorption in the body?

A

Upper small intestine, especially the duodenum

About 10% of dietary iron is absorbed.

71
Q

What form of iron is better absorbed?

A

Fe2+ (ferrous iron)

It is much more efficiently absorbed than Fe3+ (ferric iron).

72
Q

What is the main cause of metabolic alkalosis?

A

Loss of hydrogen ions or gain of bicarbonate

It is primarily due to problems of the kidney or gastrointestinal tract.

73
Q

What causes activation of the renin-angiotensin II-aldosterone (RAA) system?

A

ECF depletion (e.g., vomiting, diuretics)

This causes Na+ and Cl- loss, raising aldosterone levels.

74
Q

What are microtubules?

A

Components of the cytoskeleton of the cytoplasm

They help guide movement during intracellular transport and bind internal organelles.

75
Q

What proteins facilitate molecular transport along microtubules?

A
  • Dynein (retrograde)
  • Kinesin (anterograde)

They move organelles up and down the microtubules.

76
Q

What does ELISA stand for?

A

Enzyme-linked immunosorbent assay

It is used to detect antigens and antibodies.

77
Q

What is nitric oxide (NO) formed from?

A

L-arginine and oxygen

It is formed by nitric oxide synthetase (NOS).

78
Q

What is the role of nitric oxide in the body?

A

Acts on guanylate cyclase leading to raised intracellular cGMP levels

This results in vasodilation and inhibition of platelet aggregation.

79
Q

Where is norepinephrine synthesized?

A

Locus ceruleus

Levels are elevated in anxiety and depleted in depression.

80
Q

What defines a peptide?

A

A short chain of amino acids, less than 100 amino acids in length

A protein is an amino acid chain of 100 or more.

81
Q

What is the primary structure of a protein?

A

The order of amino acids in the basic chain

It is linked by peptide bonds between the NH2 and COOH terminal ends.

82
Q

What are the types of secondary structures in proteins?

A
  • Alpha-helices
  • Beta-pleated sheets
  • Beta turns

These structures result from hydrogen bonding.

83
Q

What is the quaternary structure of a protein?

A

The formation of a functional protein made up of multiple subunits

An example is hemoglobin, which is a tetramer.

84
Q

What theory describes enzyme-substrate interaction?

A

Lock and key theory

Each enzyme has an active site specific for one substrate.

85
Q

What is the quaternary structure of proteins?

A

Proteins will form a quaternary structure in order to make a functional protein. An example is haemoglobin, a molecule constructed from four proteins making a tetramer.

86
Q

What determines the function of a protein?

A

The function of a protein is governed by its structure.

87
Q

What is an example of a globular protein and its role?

A

Enzymes are an example of globular proteins that have a wide range of roles.

88
Q

What is the lock and key theory?

A

The lock and key theory describes how each enzyme has an active site specific for one substrate, forming an enzyme-substrate complex.

89
Q

What occurs when the enzyme-substrate complex is formed?

A

The substrate undergoes a biochemical change facilitated by the enzyme, leading to the breakdown of the complex.

90
Q

What happens to enzymes after they catalyze a reaction?

A

The enzyme remains unchanged by the interaction and can facilitate further reactions.

91
Q

What are common characteristics of enzymes?

A
  • Solubility in water
  • Vulnerability to denaturation at temperatures above 37 degrees Celsius
92
Q

What does denaturation refer to in the context of enzymes?

A

Denaturation refers to an irreversible change in enzyme structure.

93
Q

What are two structural proteins mentioned?

A
  • Keratin
  • Collagen
94
Q

What roles do proteins play in cell signaling?

A

Proteins act as mediators of transmembrane transport, cell receptors, and cell signaling.

95
Q

What is the role of hormones in the endocrine system?

A

Hormones in the bloodstream are recognized by cell surface receptors, triggering signaling cascades.

96
Q

Name a rate-determining enzyme in the TCA cycle.

A

Isocitrate dehydrogenase

97
Q

What is a second messenger?

A

Second messengers are molecules that allow amplification of external stimuli.

98
Q

What is the primary effector in the cAMP system?

A

Adenylyl cyclase

99
Q

What neurotransmitter regulates mood, appetite, and sleep?

A

Serotonin

100
Q

What are the consequences of vitamin A deficiency?

A

Night blindness

101
Q

What is thiamine and its role?

A

Thiamine is a water soluble vitamin that acts as a coenzyme in several enzymatic reactions.

102
Q

What are clinical consequences of thiamine deficiency?

A
  • Wernicke’s encephalopathy
  • Korsakoff’s syndrome
  • Dry beriberi
  • Wet beriberi
103
Q

What is the function of vitamin B12?

A

Cofactor for the conversion of homocysteine into methionine.

104
Q

What are symptoms of vitamin B12 deficiency?

A
  • Macrocytic, megaloblastic anaemia
  • Peripheral neuropathy
105
Q

What is riboflavin a cofactor for?

A

Flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN)

106
Q

What is a consequence of niacin deficiency?

A

Pellagra: dermatitis, diarrhoea, dementia

107
Q

What is the function of vitamin B6?

A

Converted to pyridoxal phosphate (PLP), a cofactor for many reactions including transamination.

108
Q

What are consequences of vitamin B6 deficiency?

A
  • Peripheral neuropathy
  • Sideroblastic anemia
109
Q

What are functions of vitamin C?

A
  • Antioxidant
  • Collagen synthesis
  • Facilitates iron absorption
  • Cofactor for norepinephrine synthesis
110
Q

What are symptoms of vitamin C deficiency (scurvy)?

A
  • Follicular hyperkeratosis
  • Ecchymosis
  • Poor wound healing
  • Gingivitis
111
Q

What is vitamin D’s role in the body?

A

Plays a key role in calcium and phosphate metabolism.

112
Q

What are sources of vitamin D?

A
  • Vitamin D2 (ergocalciferol): plants
  • Vitamin D3 (cholecalciferol): dairy products, synthesized from sunlight
113
Q

What are the consequences of vitamin D deficiency?

A
  • Rickets: seen in children
  • Osteomalacia: seen in adults
114
Q

What is the function of vitamin E?

A

Acts as an antioxidant.

115
Q

What does vitamin K do?

A

Acts as a cofactor in the carboxylation of clotting factors (II, VII, IX, X).

116
Q

What may cause vitamin K deficiency?

A

Fat malabsorption conditions or prolonged use of broad-spectrum antibiotics.

UKMLA Prep (41 decks)

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