Monday, 11 July 2016

Quote of the week


“Those who think they have no time for healthy eating, will sooner or later have to find time for illness”-Edward Stanley

Wednesday, 6 July 2016

Is this doctor hitting on his patient?

I recently received a very thoughtful email from a reader. I'm posting it here (slightly edited) with permission from the writer:
I recently stumbled across your very helpful and insightful blog. I had a question that I thought you might be able to help me with. I was wondering if you could possibly cover something on appropriate boundaries in the doctor/patient relationship.I have seen a few pieces on obvious violations of this (romantic and/or sexual relationships where the doctor clearly took advantage of a patient), but I was more curious about the grayer areas, where doctors may be a bit too familiar with their patients.
I ask because I saw a male OB throughout a recent pregnancy. He was quite attentive, very competent, and overall a wonderful doctor. However, sometimes he made comments that took me off guard and I was never quite sure how they were relevant to my medical care. For example, he asked if my husband still got erections and later asked me to describe how I felt when I had an orgasm. On one hand, I could see how questions regarding sexual activity during pregnancy are pertinent, but never before has an OB asked me these questions during a pregnancy. The questions seemed a little odd to me, but I also wonder if perhaps this OB is just much more thorough in his care than my previous one.
I'd appreciate any light you could shed on the matter of grayer areas in the doctor/patient relationship.
What a terrific - and important - question! Here's my reply:

As you say, the questions your obstetrician asked could be relevant to your obstetrical care, but they could also be part of an effort to see if you might be sexually/romantically available. As a general rule of thumb, when the medical relevance of questions physicians ask isn't obvious, we should explain why we are asking the questions. Not having done that, your obstetrician created a situation in which a reasonable patient might wonder "are these questions part of good medical care, or is the doctor 'coming on' to me?" 

I think the most we can say is that the obstetrician might have been committing what in medical ethics language would be called a "boundary violation." If that was his intent, it was clearly a breach of professional ethics. But if it was not his intent, he failed to make clear why the questions were relevant. For example, he might have said "In my experience, it's not uncommon for couples to encounter difficulties with sexual intimacy during pregnancy...." But it's still unclear what the relevance of your experience of orgasm would be to medical care, unless you had brought up a concern of your own, or if he had said something like "I'm trying to learn about sexual relationships during pregnancy, so if it's OK with you I'd like to ask you..."

Ideally, patients will ask for clarification when they're uncertain about what we are asking about or doing. But in my practice there were times when I thought I was being clear but learned that I had inadvertently confused my patient. The power imbalance in the medical relationship means that physicians can't rely on patients to ensure clarity. Your email shows you to be a very clear thinker, but apparently you didn't feel comfortable saying something like "Could you explain how that question relates to my obstetrical care?"

If a resident or colleague asked me if it was OK to inquire about a partner's erections or the experience of orgasm in the course of obstetrical care, I would (1) ask about the relevance of the questions to the patient's care and, if there was clear relevance (2) recommend that the physician explain why he was asking the questions, to avoid generating the kind of concerns you experienced.

So, in  answer to the question of whether your physician was committing a boundary violation, my response is that it's possible that he was. We know from patient reports that sexual exploitation is often preceded by suggestive/ambiguous comments that in retrospect appear to be "testing the waters" or "dropping hints." But it's also possible that the questions were entirely relevant to his objectives for your care. If that's the case, he was "guilty" of poor clinical communication.

Thank you again for your very valuable question! 



 

Tuesday, 5 July 2016

Herbicide and insect resistant crops

Genetic technology can provide benefits in, for example, agriculture and medicine, but has the associated risk of the escape of the gene concerned into organisms other than the intended host.










Herbicide resistant crops
Fields of crops are sprayed with herbicide to kill weeds that compete for space, light, water, and ions to increase crop yield.

Oil seed rape

  • a source of vegetable oil and biodiesel fuel
  • modified oil seed rape is resistant to the herbicide glyphosphate (inhibits the synthesis of 3 amino acids: phenylamine, tyrosine, trytophan)
             - glyphosphate is absorbed through leaves and is transported to growing tips
  • the gene transferred into crop plants come from a strain of the bacterium Agrobacterium


Tobacco
  • resistant to herbicides: sulfonylurea and dinitroaniline
  • genes taken from other plant species

Effects on the environment:
  • the GMed plants become agricultural weeds
  • pollen will transfer the gene to wild relatives, producing hybrid offspring that are invasive weeds
  • herbicide-resistant weeds will evolve because so much of the same herbicide is used

Insect-resistant crops
To protect crop plants against insect pests to increase crop yield

Cotton - protected against boll weevil

Bt maize - protected against corn borers
  • Bt toxing is - lethal to insects that eat it
                              - harmless to other animals
  • gene for Bt toxin is taken from the bacterium Agrobacterium tumefaciens
  • genetically modified crop plants with Bt toxin gene produce their own insectisides
  • Bt resistance in corn borers: recessive allele. Adult corn borers in refugees (non GM maize) supply the dominant allele to counteract the resistance when they mate with borers from the fields

Effect on environment:
  • evolution of resistance by insect pests
  • damaging effects on other insect species
  • transfer of added gene to other plant species


19.3 Genetically modified organisms in agriculture 

The ability to manipulate genes has many potential benefits in agriculture, but the implications of releasing genetically modified organisms (GMOs) into the environment are subject to much public debate in some countries.

a) explain the significance of genetic engineering in improving the quality and yield of crop plants and livestock in solving the demand for food in the world, e.g. Bt maize, vitamin A enhanced rice (Golden riceTM) and GM salmon 

b) outline the way in which the production of crops such as maize, cotton, tobacco and oil seed rape may be increased by using varieties that are genetically modified for herbicide resistance and insect resistance 

c) discuss the ethical and social implications of using genetically modified organisms (GMOs) in food production

Monday, 4 July 2016

Genetically modified organisms

Genetic engineering is improving the quality (nutrition) and yield of crop plants and livestock  --> therefore is solving the demand for food in the world







1. Golden Rice
- genetically modified rice produces large quantities of β-carotene in endosperm --> human cells convert β-carotene to Vitamin A
- Golden Rice has same yield, pest resistance and eating qualities as the original varieties
- normally:

  • deficiency of Vitamin A can lead to blindness and death (due to a weak immune system)
  • Vitamin-A is fat soluble: found in oily-fish, dairy, liver,...
  • Pro-vitamin A is present in the aleurone layer, not in the endosperm in rice

-genes for carotene production is taken from:   and inserted into rice
  • daffodils
  • common soil bacterium Pantoea ananatis

*ethical implications?
Some organisations condemn Golden Rice: It is the wrong way to solve poverty. Solving political, cultural and economic issues will help lower poverty, as people will be given a more varied diet


From question 9a past paper of Winter 2014, paper 43


http://papers.gceguide.com/A%20Levels/Biology%20(9700)/9700_w14_qp_43.pdf
http://papers.gceguide.com/A%20Levels/Biology%20(9700)/9700_w14_ms_43.pdf

2. GM Atlantic salmon
Injected into a fertilised egg of an Atlantic salmon:

  • growth-hormone regulating gene from a PAcific Chinook salmon
  • promoter from another species of fish, an ocean pout
The salmons are able to grow all year, instead of just in sping and summer. They reach market size in 18 months as opposed to 3 years of an unmodified fish.





19.3 Genetically modified organisms in agriculture 

The ability to manipulate genes has many potential benefits in agriculture, but the implications of releasing genetically modified organisms (GMOs) into the environment are subject to much public debate in some countries.

a) explain the significance of genetic engineering in improving the quality and yield of crop plants and livestock in solving the demand for food in the world, e.g. Bt maize, vitamin A enhanced rice (Golden riceTM) and GM salmon 

b) outline the way in which the production of crops such as maize, cotton, tobacco and oil seed rape may be increased by using varieties that are genetically modified for herbicide resistance and insect resistance 

c) discuss the ethical and social implications of using genetically modified organisms (GMOs) in food production

Gene therapy

Gene therapy: treatment of a genetic disorder by altering a person's genotype (insert functional alleles of genes into cells)







Common vectors:

  • virus: retrovirus, lentivirus, HIV, adeno-associated virus (AAV)
  • liposomes - small spheres of phospholipids
  • naked DNA

- retrovirus: inserts genes randomly into host's genome. If the gene is inserted into another gene or regulatory sequence of a gene, it could activate a nearby gene and cause cancer



- lentivirus: inserts genes randomly into host's genome, but this virus can be modified to inactivate replication e.g.: HIV

- adeno-associated virus (AAV): does not insert genes into host genome --> gene is not passed to daughter cells when a cell divides --> the virus can be used successfully with long-lived cells



Severe combined immunodeficiency (SCID) 
  • a crippled immune system
  • sufferers may die at infancy due to normal infections
  • inability to make adenosine deaminase (ADA)
--> T-lymphocytes of sufferers are removed and normal alleles of the ADA gene are introduced into them using a virus vector. This is not a permanent cure.

They call him bubble boy.

Cystic fibrosis: genetic disorder where abnormally thick mucus is produced in the lungs and other body parts. It is caused by a recessive mutated allele of the gene for a functional transporter protein for chloride ions.

  • deletion mutation of 3 bases (AAA) in CFTR gene
  • role of CFTR: transport chloride ions across epithelial cell membranes of the pancreasm alveoli in the lungs,...  ---> water follows via osmosis across membranes as water potential decreased due to the entry of chloride ions ---> membranes remain moist and runny
  • sufferers of cystic fibrosis: CFTR non-functional --> water is retained inside cell --> results in dry membranes and sticky mucus

Symptoms:
  • thick mucus accumulates in lungs --> breathing difficulties and higher risks of infections
  • thick mucus blocks pancreatic duct and therefore blocks off oral enzyems that help digestion
  • male infertility: thick mucus blocks sperm ducts
Somatic and germ cell therapy
- somatic cells = body cells
- germ cells = cells involved in sexual reproduction (alleles in the germ line are passed on through generations and generations)

Applications
  • electrophoresis of DNA is used in genetic profiling (fingerprinting) in forensic science
  • PCR is also used in forensic science to solve crimes: used to amplify DNA from small tissue samples


19.2 Genetic technology applied to medicine

a) define the term bioinformatics 

b) outline the role of bioinformatics following the sequencing of genomes, such as those of humans and parasites, e.g. Plasmodium (details of methods of DNA sequencing are not required) 

c) explain the advantages of producing human proteins by recombinant DNA techniques (reference should be made to some suitable examples, such as insulin, factor VIII for the treatment of haemophilia and adenosine deaminase for treating severe combined immunodeficiency (SCID)) 

d) outline the advantages of screening for genetic conditions (reference may be made to tests for specific genes such as those for breast cancer, BRCA1 and BRCA2, and genes for haemophilia, sickle cell anaemia, Huntington’s disease and cystic fibrosis) 

e) outline how genetic diseases can be treated with gene therapy and discuss the challenges in choosing appropriate vectors, such as viruses, liposomes and naked DNA (reference may be made to SCID, inherited eye diseases and cystic fibrosis) 

f) discuss the social and ethical considerations of using gene testing and gene therapy in medicine (reference should be made to genetic conditions for which treatments exist and where none exist, also to IVF, embryo biopsy and preselection and to therapeutic abortions) 

g) outline the use of PCR and DNA testing in forensic medicine and criminal investigations

Genetic screening

Genetic screening: analysis of a person's DNA to check for the presence of a particular allele
* available for adults, fetus, embryo,...








- BRCA1 and BRCA2: faulty alleles that lead to breast and ovarian cancer in females and breast cancer in males ---> elective vasectomy


- pre-implantation genetic diagnosis (PGD):

  • carry out the IVF procedure (sperm and egg in a dish)
  • when it reaches the 8-cell stage, remove one cell and analyse the DNA for disease alleles
              - disease allele absent: embryo chosen for implantation
              - disease allele present: embryo is discarded
---> avoid pregnancies with haemophilia, sickle cell anaemia, Huntington's disease, cystic fibrosis,...


  • provides information about the increased risks of people having genetic conditions
  • people prepare for the late onset of genetic conditions like Huntington's disease
  • identify whether embryos from IVF will develop genetic conditions
  • identify a fetus that needs early treatment
  • helps provide early diagnosis

Ethics of genetic screening
  • fetus screening for genetic disease:
             - amniocentesis: look for chromosomal mutations
             - chorionic villus sampling (although there is an increased risk for miscarriage with this)
  • sex preselection: terminates pregnancy if the embryo is of the wrong sex (used PGD to select)
  • therapeutic abortions: terminating pregnancies for medical reasons



19.2 Genetic technology applied to medicine

a) define the term bioinformatics 

b) outline the role of bioinformatics following the sequencing of genomes, such as those of humans and parasites, e.g. Plasmodium (details of methods of DNA sequencing are not required) 

c) explain the advantages of producing human proteins by recombinant DNA techniques (reference should be made to some suitable examples, such as insulin, factor VIII for the treatment of haemophilia and adenosine deaminase for treating severe combined immunodeficiency (SCID)) 

d) outline the advantages of screening for genetic conditions (reference may be made to tests for specific genes such as those for breast cancer, BRCA1 and BRCA2, and genes for haemophilia, sickle cell anaemia, Huntington’s disease and cystic fibrosis) 

e) outline how genetic diseases can be treated with gene therapy and discuss the challenges in choosing appropriate vectors, such as viruses, liposomes and naked DNA (reference may be made to SCID, inherited eye diseases and cystic fibrosis) 

f) discuss the social and ethical considerations of using gene testing and gene therapy in medicine (reference should be made to genetic conditions for which treatments exist and where none exist, also to IVF, embryo biopsy and preselection and to therapeutic abortions) 

g) outline the use of PCR and DNA testing in forensic medicine and criminal investigations