Clinical Sciences Flashcards
Rough ER Functions
- translation and folding of new proteins
- manufacture of lysosomal enzymes
- n-likned glcyosylation
Smooth ER functions
-Steroid and lipid synthesis
Golgi apparatus functions
- Modifies and packages molecules for secretions
Mitochrondria functions
Aerobic respiration
Mitochrondria DNA
Circular DNA
Nucleus functions
- DNA maintenance
- RNA transcription
- RNA splicing
Lysosome function
Breakdown of latge molecules
Nucleolus function
Ribosome production
Ribosome function
Translation of RNA into proteins
Peroxisome function
Catabolism of long fatty acids and amino acids
Formation of hydrogen peroxide
Proteasome function
Degradation of protein molecules
Southern Blotting
Detects DNA
Northern Blotting
Detects RNA
Western Blotting
Detects proteins
e.g. HIV test
ELISA
Detects antigens and antibodies
Reverse Transcriptase PCR
Amplify RNA
Study designs: Ia
Evidence from meta-analysis of RCTs
Study designs: Ib
Evidence from at least x1 RCT
Study designs: IIa
Evidence from at least x1 well designed controlled trial not randomised
Study designs: IIb
Evidence from at least x1 well designed experimental trial
Study designs: III
Evidence from case, correlation and comparative studies
Study designs: IV
Evidence from panel of experts
Left ventricular ejection fraction: formula
(stroke volume / end diastolic LV volume) * 100
Stoke volume: formula
end diastolic LV volume - end diastolic LV volume
Cardiac output: formula
stroke volume x HR
Alkaptonuria: deficiency
- Homogentisic dioxygenase
Alkaptonuria: features
Pigmented sclera
Black urine in air
Disc calcification
Renal stones
Alkaptonuria: Rx
High dose vitamin C
Dietary restriction
Cell surface proteins: CD4, TCR, CD3, CD28
helper T cell
Cell surface proteins: CD8, TCR, CD3, CD28
Cytotoxic T cells
Cell surface proteins: CD4, CD25, TCR, CD3, CD28
Regulatory T cell
Cell surface proteins: CD19, CD20, CD40, MHC II, B7
B cell
Cell surface proteins: CD14, CD40, MHC II, B7
Macrophage
MHC molecule that presents lipid molecules
CD 1: function
Thymocytes, T cells and NK cells
Act as ligand for CD58 and. CD59
CD 2: function
Signalling component of TCR
CD 3: function
Th cells
Co-receptor for MHC II
Used by HIV to enter cells
CD 4: function
Found in mantle cell lymphoma
CD 5: function
Tc cells
Co-receptor for MHC I
CD 8: function
Found on Reed-Sternberg cells
CD 15: function
Bind to IgG
CD 16: function
Oncogenes: ABL
CML
Oncogenes: c-MYC
Burkitt’s lymphoma
Oncogenes: n-MYC
Neuroblastoma
Oncogenes: BCL-2
Follicular lymphoma
Oncogenes: RET
MEN II and MEN III
Oncogenes: RAS
Pancreatic cancer
Oncogenes: erb-B2 (HER2)
Breast and ovarian cancer
Nitric oxide: effects
Vasodilation
Inhibits platelet aggregation
Nitric oxide: receptor
acts on guanylate cyclase raising intracellular cGMP and decreasing Ca
Tumour suppressor: p53
Li-Fraumeni syndrome
Tumour suppressor: APC
CRC
Tumour suppressor: BRCA1/2
Breast and ovarian cancer
Tumour suppressor: NF1
Neurofibromatosis
Tumour suppressor: Rb
Retinoblastoma
Tumour suppressor: WT1
Wilm’s tumour
Tumour suppressor: MTS-1
Melanoma
Vitamin B1: Name
Thiamine
Vitamin B1: deficiency
Alcohol XS and malnutrition
Vitamin B1: Wernicke’s
Nystagmus, ophthalmoplegia and ataxia
Vitamin B1: Korsakoff’s
Amnesia, confabulation
Vitamin B1: dry berbiberi
Peripheral neuropathy
Vitamin B1: wet berbiberi
Dilated cardiomyopathy
Standard error: formula
standard deviation / (root of samples)
Bohr effect
Increased acidity (or CO2) means O2 binds less well to Hb
Haldane effect
Increase in O2 means CO2 binds less well to Hb
Prader-Willi syndrome: cause
15q11-13 paternal deletion
Prader-Willi sydrome: features (8)
Hypotonia Dysmorphic features Short Hypogonadism Infertility LD Obesity Behavioural problems
MELAS syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke like episodes
MERRF syndrome
Myoclonus epilepsy with ragged-red fibres
Kearns-Sayre syndrome
External ophthalmoplegia, retinitis pigmentosa
PKU: Defect
Phenylalanine hydroxylase
Chromosome 12
PKU: Features (6)
Developmental delay Fair hair and blue eyes LD Seizures Eczema Musty urine and sweat
PKU: Diagnosis
Guthrie test
Hyperphenylalaninaemia
Phenylpyruvic acid in urine
Respiratory physiology: hypoxia
- Vasoconstriction of pulmonary arteries
Leukotrienes: Function
- Mediators of inflammation and allergic reaction
Leukotrienes: Effect
Bronchoconstriction
Mucus production
Increased vascular permeability
Leukotrienes: Production
Secreted by leukocytes
Hypersensitivity reactions: 1
anaphylaxis
IgE mediated
Hypersensitivity reactions: 1 examples
Anaphlyaxis
Atopy
Hypersensitivity reactions: 2
Cell mediated
IgG and IgM bind to cell membrane
Hypersensitivity reactions: 2 examples (5)
Goodpastures, ITP, rheumatoid fever, autoimmune haemolytic anaemia, pernicious anaemia
Hypersensitivity reactions: 3
Immune complex
Free antigen and antibody combine
Hypersensitivity reactions: 3 examples
SLE, post strep GN, acute extrinsic alveolitis
Hypersensitivity reactions: 4
Delayed hypersensitivity
T cell mediated
Hypersensitivity reactions: 4 examples (6)
TB skin reaction, contact dermatitis, graft vs host, scabies, MS, GBS
Hypersensitivity reactions: 5
Antibodies bind and stick to cell surface
Hypersensitivity reactions: 5 examples
Myasthenia gravis, Graves
Acute inflammation and fevers
Source; macrophages
IL 1
Stimulates growth and proliferation of T cells
Source; Th1
IL 2
Stimulates differentiation and proliferation of myeloid lineage cells
Source; activated Th cells
IL 3
Differentiation of T cells
Source; Th cells
IL 4
Eosinophil production
Source; Th cells
IL 5
Differentiation of B cells and fevers
Source; Th cells
IL 6
Neutrophil chemotaxis
Source; macrophages
IL 8
Anti-inflammatory. Inhibits Th synthesis
Source; Th2 cells
IL 10