General Principles Flashcards
What are the four types of child abuse?
Neglect, emotional abuse, physical abuse, sexual abuse
What legal framework governs child protection in the UK?
The Children’s Act of 1989 and 2004
When were the NICE guidelines on child maltreatment published?
2009
List two features where you should consider abuse in cases of neglect.
- Severe and persistent infestations (e.g. Scabies or head lice)
- Parents who do not administer essential prescribed treatment
List two features where you should suspect abuse in cases of neglect.
- Failure to seek medical advice which compromises the child’s health
- Child who is persistently smelly and dirty
List two features where you should consider abuse in cases of sexual abuse.
- Persistent dysuria or anogenital discomfort without a medical explanation
- Gap in anus during examination without a medical explanation
List two features where you should suspect abuse in cases of sexual abuse.
- Persistent or recurrent genital or anal symptoms associated with a behavioral or emotional change
- STI in a child younger than 12 years
List two features where you should consider abuse in cases of physical abuse.
- Any serious or unusual injury with an absent or unsuitable explanation
- Cold injuries in a child with no medical explanation
List two features where you should suspect abuse in cases of physical abuse.
- Bruising, lacerations or burns in a child who is not independently mobile
- One or more fractures if there is an unsuitable explanation
What is the first fine motor milestone a child typically reaches?
Reaches for object (3 months)
At what age can a child typically build a tower of 3 blocks?
18 months
What is the major gross motor milestone at 3 months?
Laughs and enjoys friendly handling
At what age does a child typically start using a spoon competently?
2 years
What milestone is typically reached by a child at 2 years in terms of drawing?
Copies a line
What are the three types of consent?
Informed, expressed, implied
What is Consent Form 1 used for in the UK NHS?
For competent adults who are able to consent for themselves where consciousness may be impaired
What are the key points to determine a patient’s capacity?
- Understand and retain information
- Patient believes the information to be true
- Patient is able to weigh the information to make a decision
What is the requirement for a young person under 16 years regarding consent for contraceptives?
The young person must understand the professional’s advice and cannot be persuaded to inform their parents
What is the Guthrie test used to screen for?
- Hypothyroidism
- Phenylketonuria
- Galactosaemia
- Maple syrup urine disease
- Homocystinuria
What adverse effects may occur after the first dose of the MMR vaccine?
- Malaise
- Fever
- Rash
What is the principal neurotransmitter in the somatic nervous system?
Acetylcholine (ACh)
What condition is associated with decreased levels of acetylcholine in the central nervous system?
Alzheimer’s disease
What is alkaptonuria caused by?
A lack of the enzyme homogentisic dioxygenase (HGD)
What are the features of biotin deficiency?
- Alopecia
- Dermatitis
What role do cadherins play in the body?
Cell adhesion
What is the function of beta-endorphin?
It is an endogenous opioid peptide neurotransmitter
What is the function of biotin (vitamin B7)?
Cofactor for multiple carboxylation enzymes
What is alopecia?
Alopecia is hair loss.
What is dermatitis?
Dermatitis is inflammation of the skin.
What are cadherins?
Cadherins are ‘calcium-dependent adhesion’ proteins that play a role in cell adhesion.
Name an example of a cadherin found in epithelial tissues.
E-cadherin.
What condition is associated with antibodies against desmoglein 3?
Pemphigus vulgaris.
What is the primary hormone released from parafollicular cells in response to hypercalcaemia?
Calcitonin.
What are the two main hormones controlling calcium metabolism?
- Parathyroid hormone (PTH)
- 1,25-dihydroxycholecalciferol (calcitriol)
What are the actions of parathyroid hormone? (6)
- 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
What are the actions of 1,25-dihydroxycholecalciferol?
- Increases plasma calcium
- Increases plasma phosphate
- Increases renal tubular reabsorption and gut absorption of calcium
- Increases osteoclastic activity
- Increases renal phosphate reabsorption
What regulates the cell cycle?
The cell cycle is regulated by proteins called cyclins.
What phase of the cell cycle is characterized as the resting phase?
G0 phase.
What occurs during the G1 phase of the cell cycle?
Cells increase in size and prepare for DNA synthesis.
What is the primary function of the rough endoplasmic reticulum?
Translation and folding of new proteins.
What is the most abundant protein in the human body?
Collagen.
Describe the structure of collagen.
Collagen has a triple-helix structure consisting of three polypeptide chains.
What type of collagen is associated with osteogenesis imperfecta?
Type I collagen.
What type of mutation results in a stop codon?
Nonsense mutation.
What is the role of DNA helicase in DNA replication?
Unwinds the DNA double helix at the replication fork.
What distinguishes the leading strand from the lagging strand in DNA replication?
The leading strand is synthesized continuously, while the lagging strand is synthesized in short bursts (Okazaki fragments).
What is the function of glucokinase?
Phosphorylates glucose to glucose-6-phosphate.
What neurotransmitter is the principal inhibitory neurotransmitter of the cortex?
GABA.
What is classic galactosemia caused by?
Galactose-1-phosphate uridyltransferase deficiency.
What are the symptoms of hereditary fructose intolerance?
- Vomiting
- Hypoglycemia
- Jaundice
- Hepatomegaly
- Hyperuricaemia
What is the effect of a competitive inhibitor on Km?
Increases Km.
What is the effect of a non-competitive inhibitor on Vmax?
Decreases Vmax.
What is Stiff Person Syndrome associated with?
Auto-antibodies against GAD.
Which enzyme converts glutamate into GABA?
Glutamate decarboxylase (GAD).
What is responsible for the conversion of GAD?
AD (Amino Acid Decarboxylase)
Loss of GAD can result in stiff person syndrome.
What neurological disorder is characterized by auto-antibodies against GAD?
Stiff person syndrome
Symptoms include muscle stiffness and spasms, and patients may develop diabetes mellitus.
What neurotransmitter acts as an excitatory neurotransmitter in the central nervous system?
Glutamate
It is synthesized from glutamine by the glutaminase enzyme.
What role does glutamate play in memory and learning?
Long-term potentiation
High levels of glutamate may contribute to excitotoxicity following a stroke.
What are the types of glutamate receptors? (5)
- NMDA
- AMPA
- Kainate
- Metabotropic type I
- Metabotropic type II/III
Each receptor has specific functions and mechanisms.
What is the principal inhibitory neurotransmitter of the spinal cord?
Glycine
It is one of the 20 amino acids required by the body to make proteins.
Is glycine considered an essential amino acid?
No
Glycine can be synthesized from serine in the human body.
What is the major pathway for glycine breakdown?
Glycine cleavage system
It largely acts in the liver.
What is glycine encephalopathy?
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.
What does the Golgi apparatus do?
Modifies, sorts, and packages molecules destined for cell secretion
It plays a crucial role in cellular processing and transport.
What is I-cell disease?
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.
What are the clinical features of I-cell disease?
- Coarse facial features
- Restricted joint movement
- Clouding of the cornea
- Hepatosplenomegaly
These features are similar to those found in Hurler syndrome.
What is Von Gierke’s disease characterized by?
Deficiency of glucose-6-phosphatase
Key features include hepatic glycogen accumulation, hypoglycemia, and lactic acidosis.
What is Pompe’s disease caused by?
Deficiency of lysosomal alpha-1,4-glucosidase
Key features include cardiac, hepatic, and muscle glycogen accumulation.
What defect causes Tay-Sachs disease?
Hexosaminidase A deficiency
This leads to accumulation of GM2 ganglioside within lysosomes.
What is the primary location for iron absorption in the body?
Upper small intestine, especially the duodenum
About 10% of dietary iron is absorbed.
What form of iron is better absorbed?
Fe2+ (ferrous iron)
It is much more efficiently absorbed than Fe3+ (ferric iron).
What is the main cause of metabolic alkalosis?
Loss of hydrogen ions or gain of bicarbonate
It is primarily due to problems of the kidney or gastrointestinal tract.
What causes activation of the renin-angiotensin II-aldosterone (RAA) system?
ECF depletion (e.g., vomiting, diuretics)
This causes Na+ and Cl- loss, raising aldosterone levels.
What are microtubules?
Components of the cytoskeleton of the cytoplasm
They help guide movement during intracellular transport and bind internal organelles.
What proteins facilitate molecular transport along microtubules?
- Dynein (retrograde)
- Kinesin (anterograde)
They move organelles up and down the microtubules.
What does ELISA stand for?
Enzyme-linked immunosorbent assay
It is used to detect antigens and antibodies.
What is nitric oxide (NO) formed from?
L-arginine and oxygen
It is formed by nitric oxide synthetase (NOS).
What is the role of nitric oxide in the body?
Acts on guanylate cyclase leading to raised intracellular cGMP levels
This results in vasodilation and inhibition of platelet aggregation.
Where is norepinephrine synthesized?
Locus ceruleus
Levels are elevated in anxiety and depleted in depression.
What defines a peptide?
A short chain of amino acids, less than 100 amino acids in length
A protein is an amino acid chain of 100 or more.
What is the primary structure of a protein?
The order of amino acids in the basic chain
It is linked by peptide bonds between the NH2 and COOH terminal ends.
What are the types of secondary structures in proteins?
- Alpha-helices
- Beta-pleated sheets
- Beta turns
These structures result from hydrogen bonding.
What is the quaternary structure of a protein?
The formation of a functional protein made up of multiple subunits
An example is hemoglobin, which is a tetramer.
What theory describes enzyme-substrate interaction?
Lock and key theory
Each enzyme has an active site specific for one substrate.
What is the quaternary structure of proteins?
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.
What determines the function of a protein?
The function of a protein is governed by its structure.
What is an example of a globular protein and its role?
Enzymes are an example of globular proteins that have a wide range of roles.
What is the lock and key theory?
The lock and key theory describes how each enzyme has an active site specific for one substrate, forming an enzyme-substrate complex.
What occurs when the enzyme-substrate complex is formed?
The substrate undergoes a biochemical change facilitated by the enzyme, leading to the breakdown of the complex.
What happens to enzymes after they catalyze a reaction?
The enzyme remains unchanged by the interaction and can facilitate further reactions.
What are common characteristics of enzymes?
- Solubility in water
- Vulnerability to denaturation at temperatures above 37 degrees Celsius
What does denaturation refer to in the context of enzymes?
Denaturation refers to an irreversible change in enzyme structure.
What are two structural proteins mentioned?
- Keratin
- Collagen
What roles do proteins play in cell signaling?
Proteins act as mediators of transmembrane transport, cell receptors, and cell signaling.
What is the role of hormones in the endocrine system?
Hormones in the bloodstream are recognized by cell surface receptors, triggering signaling cascades.
Name a rate-determining enzyme in the TCA cycle.
Isocitrate dehydrogenase
What is a second messenger?
Second messengers are molecules that allow amplification of external stimuli.
What is the primary effector in the cAMP system?
Adenylyl cyclase
What neurotransmitter regulates mood, appetite, and sleep?
Serotonin
What are the consequences of vitamin A deficiency?
Night blindness
What is thiamine and its role?
Thiamine is a water soluble vitamin that acts as a coenzyme in several enzymatic reactions.
What are clinical consequences of thiamine deficiency?
- Wernicke’s encephalopathy
- Korsakoff’s syndrome
- Dry beriberi
- Wet beriberi
What is the function of vitamin B12?
Cofactor for the conversion of homocysteine into methionine.
What are symptoms of vitamin B12 deficiency?
- Macrocytic, megaloblastic anaemia
- Peripheral neuropathy
What is riboflavin a cofactor for?
Flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN)
What is a consequence of niacin deficiency?
Pellagra: dermatitis, diarrhoea, dementia
What is the function of vitamin B6?
Converted to pyridoxal phosphate (PLP), a cofactor for many reactions including transamination.
What are consequences of vitamin B6 deficiency?
- Peripheral neuropathy
- Sideroblastic anemia
What are functions of vitamin C?
- Antioxidant
- Collagen synthesis
- Facilitates iron absorption
- Cofactor for norepinephrine synthesis
What are symptoms of vitamin C deficiency (scurvy)?
- Follicular hyperkeratosis
- Ecchymosis
- Poor wound healing
- Gingivitis
What is vitamin D’s role in the body?
Plays a key role in calcium and phosphate metabolism.
What are sources of vitamin D?
- Vitamin D2 (ergocalciferol): plants
- Vitamin D3 (cholecalciferol): dairy products, synthesized from sunlight
What are the consequences of vitamin D deficiency?
- Rickets: seen in children
- Osteomalacia: seen in adults
What is the function of vitamin E?
Acts as an antioxidant.
What does vitamin K do?
Acts as a cofactor in the carboxylation of clotting factors (II, VII, IX, X).
What may cause vitamin K deficiency?
Fat malabsorption conditions or prolonged use of broad-spectrum antibiotics.
