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
Treatment of CF
Physiotherapy Pancreatic enzyme supplements Bronchodilators Steroids Mucolytics High calorie diets Oral and nebulised antibiotics Gene therapy
Therapeutic effects of benzodiazepines
Sedatives Anxiolytic Hypnotic - sleep inducing Anticonvulsant Muscle relaxant
Mode of action of benzodiazepines
Increase affinity of GABA to GABAa receptors to increase the frequency and duration of the channel opening
Increased Cl- entry
Increased hyperpolarisation
Increased inhibitory effects
Side effects of benzodiazepines
Amnesia, sedation, ataxia, hypotension, respiratory depression, tachycardia, dizziness
Metabolism of diazepam
Diazepam –> desmethyldiazepam –> oxazepam by CYP3A4
Oxazepam conjugated with glucoronic acid
Urinary excretion and some faecal
Diazepam half life
20-80 hours
Temazepam half life
3-13 hours
Metabolism of temazepam
Conjugation with glucoronic acid
Urinary excretion and some faecal
Why is temazepam safer for Edith?
Shorter half life so less likely to accumulate
Only phase II metabolism which is less affected by age
Compliance categories
Primary = not started Secondary = not finished Tertiary = not taken correctly
Reasons for non-compliance
Forgetfulness Symptoms gone Side effects Cost Effects not visible
Factors affecting drug metabolism
Pharmacogenetics Ethnicity Age Gender Diet and environment Drug interactions Disease
Microscopic evidence of coeliac disease
Villous atrophy
Crypt hyperplasia
Intra-epithelial lymphocytes
Macroscopic evidence of coeliac disease
Scalloping of mucosal folds
Fewer mucosal folds
Mucosal mosaic pattern
Prominence of submucosal vessels
Function of tTG
Deamidation of gliadin
Glutamine –> glutamic acid
Increases affinity for HLA
More immunogenic
Genotype of coeliacs
95% = HLADQ2 5% = HLADQ8
Symptoms of coeliac disease
All of malabsorption Anaemia Dehydration Diarrhoea Muscle wasting Foul smelling stools Weight loss
Problems with gluten free diet
Poor compliance
Expensive
Hidden extracts
Contamination
Testicular cancer epidemiology
Most common cancer for men aged 25-49
1% of male cancers worldwide
2200 men diagnosed in the UK each year
Types of testicular cancer
Germ cell - seminoma (originate in seminiferous tubules), non-seminomas, mixed
Lymphoma
Stromal - Leydig or Sertoli cell tumours
Staging
I - no spread
II - spread to abdominal lymph nodes
III - spread to thoracic lymph nodes
IV - spread to organs such as the brain, liver, lungs
Symptoms
Testicular mass Swelling or pain in scrotum Dull ache and heavy sensation in lower abdomen Gynecomastia Back pain
Risk factors for testicular cancer
Cryptorchidism - 11x Indirect inguinal hernia Gonadal agenesis - Klinefelter syndorme White Smoking Family history HIV positive Marijuana use
Treatment of testicular cancer
Orchiectomy
Lymph node dissection
Radiation
Chemotherapy
Importance of testicle self exam
Become familiar with normal feel of testicles
Recognise any changes
Seminomas vs non-seminomas
Non-seminomas are faster growing and more aggressive compared to seminonas
Symptoms of meningitis
Fever Vomiting Photophobia Drowsiness Rapid breathing Non-blanching rash
Bacteria that can cause meningitis
Neiserria meningitides Group B strep Haemophillus influenzae B Streptococcus pneumonae Listeria monocytogenes
Viruses that can cause meningitis
VZV HSV HIV EBV Non-polio enteroviruses
Treatment for meningitis
Broad spectrum antibiotics - cephalosporins
Steroids (dexamthosone) - reduce inflammation to reduce ICPa and thus brain damage and dampen immune system to prevent worsening of symptoms with antibiotics
Causes of reduced levels of consciousness
Diabetes Dehydration Head injury Drug overdose Alcohol intoxication Seizure Stroke Brain tumour Hypoxia Hypercapnia
How can bacteria reach the meninges?
Direct contract with the brain through the nasal cavity
In the blood stream
Vaccines that protect against meningitis
MenACWY, menB, menC, MMR, Hib, pneumococcal
Why are CF patients more prone to lung infections?
Mucous is viscous as lacks water
Resists action of cilia
Bacteria not swept out of the lungs
Blockage of bronchi
MHC class I types
A, B, C
MHC class II types
DP, DQ, DR
Polygenic property of MHC
More than one type of both type I and II
Polymorphic property of MHC
Multiple alleles in the population meaning most individuals are heterozygous
Function of the lymphatic system
Removal of interstitial fluid from tissues
Absorbs and transports fatty acids from the GI system
Transports WBCs to and from lymph nodes to the bone
Transports APCs from tissues to lymph nodes
Site of lumbar puncture
L3/4
L4/5
What can be found out from a lumbar puncture?
Pressure determination
Cell count
Microbiology
Levels of glucose, lactate, antibodies
Why is there increased stress in families with a child with chronic disease?
Less money Commitments at home Difficulty with holidays Less attention for other children Increased worry about child
CF physiotherapy problems
consuming
Needs other family member
Boring
Exhausting
Requirements for informed consent?
Patient has capacity
Patient offered adequate information
Non-coerced into their decision
