FunMed Flashcards
Define child poverty
When a child lives in a household with an income below 60% of the UK average
Barker hypothesis
Small size at birth is linked to an increased risk of developing certain diseases in later life such as CHD, diabetes, stroke and hypertension
Fraser guidelines
Can provide contraception confidentially to under 16s if:
They understand all aspects of the advice
They cannot be persuaded to tell their parents
They are likely to engage in sex with or without the treatment
Their physical or mental health could suffer without such treatment
It is in their best interests to receive such treatment or advice without parental knowledge
DLP mutation
Mutation in gene coding for dynamin like 1 protein
Dominant negative effect - mutant allele prevents functioning of wild type allele
DLP1
GTPase enzyme that regulates mitochondrial and peroxisomal fission
Involved in the scission of membranes late in replication
Roles of peroxisomes
Lipid metabolism Chemical detoxification Beta oxidation of fatty acids Neutralise free radicals and poisons Synthesis of plasmalogens
Stages of grief
Denial Anger Bargaining Depression Acceptance
Reasons for genetic counselling
Family history
Genetic condition themselves or known carrier
Abnormal test result
Previous child with genetic illness
Mutations in PWS
70% = deletion
20-30% = maternal uniparental disomy
Imprinting errors?
How does uniparental disomy arise?
Random even in meiosis II of gametogenesis
As a result of trisomy rescue
Symptoms of PWS
Severe hypotonia Feeding problems Developmental delay Overeating Excessive sleeping Hypogonadism
Complications of PWS
Obesity –> sleep apnoea, diabetes
Intolerance to pain
PWS treatments
Physical therapy to increase muscle mass Speech therapy Occupational therapy Nutritional advice Regular physical exercise Growth hormone treatment --> increases muscle mass and lessens growth retardation and lessens weight gain
Angelman syndrome mutation
In UBE3A which is a ubiquitin protein involved in targeting proteins for degradation
Angelman syndrome symptoms
Developmental delay Speech impairment Learning difficulties Seizures Sleep disorders Excessive laughing Movement and balance problems
Angelman syndrome treatments
Anti-seizure medication
Speech therapy
Physiotherapy for joints
Melatonin for sleep problems
Angelman vs PWS genetics
PWS = paternal allele absent and maternal silenced by imprinting Angelman = maternal allele absent and paternal silenced by imprinting
Imprinting mechanisms
DNA methylation
Histone modifications
Small RNAs
Genetic conflict hypothesis
Fathers genes produce larger offspring compared to mothers whose is best if all survive to adulthood
Paternal imprinting favours larger offspring
Maternal imprinting favours smaller offspring
Causes of respiratory acidosis
Oversedation Brainstem trauma Respiratory muscle paralysis Pneumonia Emphysema Bronchitis
Causes of respiratory alkalosis
Mechanical ventilation
Stress
Liver disease
Septicaemia
Location of CFTR gene
7q31.2
Incidence of CF
1/25 carriers
1/2500 affected
Most common CF mutation
3 base deletion of Phe
Present in 70% of cases
Heterozygote advantage of CFTR mutation
Protection against cholera, typhoid, TB
Function of CFTR channel
Transports chloride out of epithelial cells to decrease mucous viscosity
Pumped chloride out of sweat back into the body
Symptoms of CF
Poor growth Weight loss Persistant cough Frequent chest infections Shortness of breath Infertility Insulin deficiency
Complications of CF
Lung remodelling Biofilm formation Superbug infection Autodigestion of the pancreas Infertility due to blocked sperm ducts Kidney toxicity and hearing problems due to excessive antibiotic intake Low bone mineral density Diabetes
Diagnosis of CF
Heel prick test Sweat test Lung function test - obstructive condition Chest X ray Genetic testing
