MOD Flashcards
What type of disease is homocystinuria?
Autosomal recessive
Which enzyme is most invovled in homocystinuria? A) Betaine B) Cobalamin C) Cystathionine beta-synthase D) MTHF reductase
C) Cystathionine beta-synthase
Which amino acid gets converted into homocystinuria?
Methionine
What is the metabolic error in phenylketonuria?
Phenylalanine cannot be broken down –> builds in blood and brain –> brain damage
GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-
In which organ is the H+ excreted?
Stomach
GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-
In which organ is the HCO3- excreted?
Duodenum
What important molecule reclaimed in the kidneys that plays a role in acid/base balance?
Bicarbonate
Following which 3 increases does the O2 haemoglobin dissociation curve shift? Which direction does it shift?
Increased 2,3-DGP
H+
Temperature
Shifts RIGHT
What changes occur in CO2, O2 and H+ during:
Respiratory alkalosis?
Low CO2
Low H+
High O2
What changes occur in CO2, O2 and H+ during:
Respiratory acidosis?
High CO2
High H+
Low O2
What changes occur in CO2, O2 and H+ during:
Metabolic alkalosis?
Low H+
High CO2
Low O2
What changes occur in CO2, O2 and H+ during:
Metabolic acidosis?
High H+
Low CO2
High O2
What is the name of a benign tumour of non-glandular
epithelium?
Pappiloma
What is the name of a benign tumour of glandular
epithelium?
Adenoma
Defects of which process produces energy deficiency?
Fatty acid oxidation
Androgen insensitivity syndrome results in what presentation?
Genetically male but healthy female phenotype
- absent pubic hair
- ambiguous genitalia
- amenrrhoea
- infertility
1) Distributive shock
2) Hypovolaemic shock
3) Cardiogenic shock
A) Fluid loss
B) Cardiac pump failure
C) Severe vasodilation
Distributive - severe vasodilation
Hypovolaemic - fluid loss
Cardiogenic - cardiac pump failure
What are the 4 types of distributive shock?
Septic Shock
Anaphylactic Shock
Neurogenic Shock
Toxic Shock Syndrome
Hyponatraemia and a thirsty patient suggests what problem?
SIADH
Hyponatraemia and a dry (not thirsty) patient suggests what problem?
Diuretics
Is alkalosis a cause of hyperkalaemia or hypokalaemia?
Hypokalaemia
Is acidosis a cause of hyperkalaemia or hypokalaemia?
Hyperkalaemia
How do barbiturates work to increase cellular activity?
Anti-depressants - work by increasing P450 enzyme activity so other drugs get metabolised quickly
Are malignant or benign tumours usually well differentiated?
Benign (malignant vary from anaplastic to well differentiated)
Do malignant or benign tumours invade locally?
Malignant
What is the term used to describe morphological changes in size/shape?
Pleomorphism
What does stage measure?
Extent of a disease (the spread)
What does grade measure?
How differentiated it is (severity)
What does stroma provide to tumours?
Mechanical support
Nutrition
Intracellular signalling
What is the term for a benign growth made up of an abnormal mixture of cells and tissues (normally found in the area of the body where the growth occurs)?
Hamartoma
What is a choristoma?
A mass of histologically normal tissue in an abnormal location
For the following carcinogens state if they initiate or promote:
1) Genotoxic carcinogens - damage DNA
2) Non-genotoxic carcinogens - induce replication
3) Complete carcinogens - UV light is an example
Genotoxic - initiate
Non-genotoxic - promote
Complete - initiate + promote
What action to gene promoters inactivate TSGs?
Methylation
Do pro-carcinogens act directly with DNA or require enzymatic activation beforehand?
Require enzymes
Which type of cancerous gene is dominant (needs only 1 mutatnt copy of gene)
Oncogene
What are the ways an oncogene can be activated?
Translocation
Amplification
Point mutation
Insertion
Are tumour suppressor gene mutations dominant or recessive?
Recessive
Mutations in gatekeepers or caretakers are worse?
What do they make unstable?
Caretakers
Genome
What is the minimum number of genetic alterations needed to transform a normal cell into a neoplasmic cell?
3
Overexpression of which enzyme leads to immortality?
Telomerase
What is p53?
What syndrome has inactivation of p53?
What is the result of this?
Transcription factor
Li Fraumeni
Loss of apoptotic response
