Incidence of Skin Cancer

Australia
· The melanoma incidence rates in Australia and New Zealand are around four times higher than those found in Canada, the UK and the US. However, mortality rates for melanoma in Australia are quite low compared to other countries.
· Every year over 8,000 Australians are diagnosed with melanoma, 380,000 are treated for it and more than 1,500 Australians die from melanoma. (2004)
· Australia has the highest incidence of melanoma in the world, melanoma is the most common cancer in males aged 25 - 54 and in females aged 15 - 29 years. It is the second most common cancer in women 30 - 54 years of age and in the overall population of Australia, melanoma now ranks as the third most common cancer.
· In 2004, 261 Victorians died from melanoma
· Relative five-year survival rates for all melanoma are 90% for Australian males and 95% for Australian women
· Queensland had the highest incidence in both males (576.1 per 100,000 population in (1997–2001) and females (418.7 per 100,000 population), while the Northern Territory reported the lowest incidence with 489.6 cases per 100,000 for males and 365.2 per 100,000 for females because of lower incidence among Aboriginal and Torres Strait Islander people.
· Melanoma risk is generally highest in the northern areas and lower in the more southerly areas, showing a correlation to exposure to ultraviolet radiation

· Cases of Melanoma in 2001
· Males: melanoma (5,024)
· Females: melanoma (3,861)
· Persons: melanoma(8,885)

· Deaths from Melanoma in 2001
· Males: melanoma (684)
· Females: melanoma (390)
· Persons: melanoma (1,074)

· Estimated risk of melanoma 2001
· Males: 1 in 25
· Females: 1 in 34
· Persons: 1 in 29

% Distribution of malignant melanoma on body parts
Males: Head and neck 22%, Trunk 38%, Arm 17%, Leg 15%, not specified 8%
Females: Head and neck 14%, Trunk 17%, Arm 21%, Leg 42%, not specified 7%

The World
Age-standardised incidence rates* per 100,000 population for malignant melanoma, 1998-2002 by race and sex, USA
__________________Males___________Females
All races ____________21.8____________ 14.0
White ______________25.9 ____________17.2
Hispanic _____________4.5 _____________4.4
Asian/Pacific Islander ___18.0_____________1.6
Black________________1.3_____________0.8


<http://www.cancer.org.au/content.cfm?randid=101127>
<http://www.melanomafoundation.com.au/MACb.html>
<http://www.sunsmart.com.au/browse.asp?ContainerID=1752>
<http://www.aihw.gov.au/publications/can/ca01/ca01.pdf>
<http://www.wrongdiagnosis.com/m/melanoma/stats-country.htm>
<http://info.cancerresearchuk.org/cancerstats/types/melanoma/incidence/>

Herd Immunity

Herd Immunity: Herd immunity is when enough of a population is vaccinated against a disease that the rest of the population is technically immune to that disease as the likelihood of any person coming into contact with the disease is severely reduced. It is theorised that if a certain percentage of a population is vaccinated then the spread of the disease is pretty much stopped. This is usually <85%.

Immunisation rates in Australaia

Communicable Diseases Surveillance

Childhood immunisation coverage 2004

Immunisation coverage for children ‘fully immunised’ at 12 months of age for Australia increased marginally by 0.4 percentage points to 91.2%

Immunisation coverage for children ‘fully immunised’ at 24 months of age for Australia increased marginally from the last quarter by 0.2 percentage points to 92.4%


I have tables with data but dont know how to put them up but you can find them at:

http://www.health.gov.au/internet/wcms/publishing.nsf/Content/cda-cdi3101-pdf-cnt.htm/$FILE/cdi3101p.pdf

They're Tables 1,2 & 3 on page 2 and 3

IMMUNISATIONS

Birth
Hepatitis B

2 months
Hepatitis B
Diphtheria, tetanus and whooping cough (acellular pertussis) (DTPa)
Haemophilus influenzae type b (Hib)
Polio (inactivated poliomyelitis IPV)
Pneumococcal conjugate (7vPCV)

4 months
Hepatitis B
Diphtheria, tetanus and whooping cough (acellular pertussis) (DTPa)
Haemophilus influenzae type b (Hib)
Polio (inactivated poliomyelitis IPV)
Pneumococcal conjugate (7vPCV)

6 months
Hepatitis B (hepB)
Diphtheria, tetanus and whooping cough (acellular pertussis (DTPa)
Haemophilus influenzae type b (Hib)
Polio (inactivated poliomyelitis) (IPV)
Pneumococcal conjugate (7vPCV)

12 months
Hepatitis B
Haemophilus influenzae type b (Hib)
Measles, mumps and German measles (rubella) (MMR)
Meningococcal C (MenCCV)

12-24 months
Hepatitis A (Aboriginal and Torres Strait Islander children in high risk areas)

18 months
Chickenpox (varicella) (VZV)

18-24 months
Pneumococcal polysaccharide (23vPPV) (Aboriginal and Torres Strait Islander children in high risk areas)
Hepatitis A (Aboriginal and Torres Strait Islander children in high risk areas)

4 years
Diphtheria, tetanus and whooping cough (acellular pertussis) (DTPa)
Measles, mumps and German measles (rubella) (MMR)
Polio (inactivated poliomyelitis) (IPV)

10-13 years
Hepatitis B
Chickenpox (varicella) (VZV)

15-17 years
Diphtheria, tetanus and whooping cough (acellular pertussis) (dTPa)

15-49 years
Influenza (flu) (Aboriginal and Torres Strait Islander people who are medically at-risk)
Pneumococcal polysaccharide (23vPPV) (Aboriginal and Torres Strait Islander people who are medically at-risk)

50 years and over
Influenza (flu) (Aboriginal and Torres Strait Islander people)
Pneumococcal polysaccharide (23vPPV) (Aboriginal and Torres Strait Islander people)

65 years and over
Influenza (flu)
Pneumococcal polysaccharide (23vPPV)

Diseases

Hepatitis B
Virus that can cause liver infections and damage. Most people recover from the acute infection but may carry the hepatitis B virus long after recovering from symptoms. Some people develop chronic hepatitis, which can lead to liver failure and cancer.

Diptheria
An acute illness, diphtheria is caused by the bacteria Corynebacterium diphtheriae. Toxins produced by the bacteria affect the respiratory tract, nervous system, adrenal gland and heart muscle cells, and can also infect skin.

Tetanus
Toxins produced by bacteria affect the nervous system, causing symptoms such as muscle spasms; trismus (lockjaw); difficulty talking; difficulty breathing; and stiffness and/or pain in the shoulders, back and neck.

Pertussis
Can cause upper respiratory tract infections or pertussis pneumonia (lung infection). Symptoms include coughing and ‘whooping’, which can continue for a few months. Complications of the disease include hypoxic encephalopathy (lack of oxygen to the brain) leading to brain damage and possibly death.

Hib

A bacterium that causes meningitis (inflammation of a membrane surrounding the brain), epiglottitis (inflammation of a membrane in the larynx) and other serious infections in babies and children.

Polio
Poliovirus infection occurs in the gastrointestinal tract (stomach and gut). In 90 per cent of cases, the illness has no symptoms. Polio can cause meningitis and paralysis.

Pneumococcal
Causes meningitis; pneumonia; septicaemia/bacteraemia and middle ear and sinus infections. Symptoms differ in adults to children.

Measles
Symptoms include rash, fever, cough, runny nose and inflammation of the eye.
Complications of measles include ear, brain and lung infections, which can lead to brain damage and death.

Mumps
Mumps is a salivary gland infection. Complications include serious infection of other glands and body parts, hearing loss can occur due to nerve damage and mumps can cause sterility in some men.

Rubella
Symptoms are generally mild (especially in children) and may include a rash, lymphadenopathy (swollen lymph glands) and joint pain. Becoming infected with German measles in the first 8 - 10 weeks of pregnancy can cause abnormalities in the developing baby. These can be severe and include deafness, blindness, heart defects and mental retardation.

Meningococcal
Causes meningitis, and can cause septicaemia, pneumonia, arthritis and conjunctivitis.

Hepatits A
Virus that can cause liver infections and damage.

ChickenpoxInfection caused by the varicella-zoster virus, which belongs to the herpes group of viruses.

Source: http://www.immunise.health.gov.au

Methods of Termination

Generally, there are 2 kinds of abortion:
- Surgical abortion: abortion where the fetus is actually physically removed
- Medical abortion: abortion induced through the use of medicines

Medical Abortion

Pros:- Procedure is less invasive
- No anesthetics required
- Faster than surgical abortion

Cons:- Usually require 2 visits
- 95% success rate

Medical abortion requires 2 stages. The 1st stage requires the use of a drug to stop the development of the embryo and the 2nd stage requires the use of a drug to help expel the embryo from the mother's body.

2 drugs can be used to stop the development of the embryo.

Methotrexate: Can be used effectively up to 5 weeks of gestation.
- Methotrexate (cytotoxic) is given by injection.
- Works by preventing cells in the embryo from dividing, thereby not allowing the embryo to develop into a fetus.
- Side effects are: Diarrhea, Hot flushes, Mouth sores, Nausea, Abdominal pain.

RU-486 (Also known as Mifepristone): can be used effectively up to 7 weeks of gestation.
- Mifepristone (anti-progesterone) is given by injection.
- Binds to wall of uterus, blocking progesterone hormone. Progesterone works by widening the uterus so that the embryo is not pushed & provides a nutrition source to the embryo. Therefore, the embryo is pushed out of place by the tightening uterus & isn't nourished. The uterine wall is shed.
- Side effects are: Wide variety of mild symptoms.

After the use of either of the above said drugs, another drug is used to help release the dead embryo.

Misoprostol: Taken after 5-7 days after Methotrexate or 1-2 days after Mifepristone.
- Misoprostol (prostagladin) is inserted into the vagina.
- Causes the cervix to widen, allowing the embryo to be released more easily.
- Side effects are: Vomitting, Abdominal pain, Diarrhea, Nausea, Fever & Chills, Dizziness.

Medical abortions have a 95% success rate (i.e. 1 in 20 attempt fails). Failed attempted are re-attempted and if it is still unsuccessful, then a surgical abortion (Dilation & Curettage) is performed.

If the mother refuses to go through with the surgical abortion & decides to go through with the pregnancy, the delivered baby will almost certainly be born deformed because of the effects of the drugs.

Surgical Abortion

There are different options of surgical abortions which are dependant on the stage of pregnancy.

1st Trimester

Manual Vacuum Aspiration (3-6 weeks)
- The earliest form of surgical abortion.
- Vagina & cervix are cleaned with an antiseptic solution.
- Local or general anesthetic is applied.
- A small instrument is used to dilate the cervix.
- A handheld syringe is inserted into the uterus & uterine tissue including the embryo is sucked out into the syringe. Cramping may occur.
- A spatula-like tool is used to scrape the inside of the uterus to ensure that the entire embryo is removed.

Machine Vacuum Aspiration (3-6 weeks)
- It is basically the same procedure as the manual vacuum aspiration but is done with a machine instead of a syringe.

Side effects are: Irregular bleeding, Cramps.

Risks are: 0.5% rate of infection, Bleeding, Loss of muscle use of the cervix.

2nd Trimester

Dilation & Extraction (13-22 weeks)
- A clamp or forceps is inserted into the vagina & into the uterus.
- The fetus is flipped upside down & into the breech position.
- Clamps are used to pluck out the fetus' body, leaving the head behind.
- The brain is sucked out with a tube, thus crushed the skull which is then removed.
- Any remains are sucked out with a tube.

Risks are: Blood clots, Heavy bleeding, Infection, Cut/Torn uterus, Incomplete abortion (Not all remains were removed).

Dilation & Evacuation (13-22 weeks)
- It is basically the same procedure as the Dilation & Extration except that the fetus is not flipped into the breech position.
- The clamps are used to rip out random parts of the fetus's body.
- The head is crushed and removed with the clamps, instead of being sucked out.

3rd Trimester

Hysterotomy
- Similar to a Caesarean section.
- An incision in the abdomen & uterus to removed to fetus.

Risks are: Blood clots, Much more dangerous, Baby able to feel pain.

Saline (18-30 weeks)
- Salt-water mixture is placed in a needle & inserted through the women's abdomen.
- The liquid surrounds the fetus and the fetus swallows the liquid which results in the burning of their skin.
- The mother delivers the dead or dying baby.

Risks are: Uterus blood clot, Infection, Heavy bleeding.

Abortion Law

Abortion law in different Australian states and territories

Abortion in Australia remains a subject of state law rather than national law. In every state, abortion is legal to protect the life and health of the woman, though each state has a different definition.

There is no law anywhere in Australia that requires the notification or consent of a woman's partner. There is also no enforced waiting period for an abortion. There is no legal impediment against a mature minor having an abortion. A mature minor does not require parental consent or notification

However, many doctors will refuse to perform an abortion on a girl under 18 without parental consent. In Victoria, it is common practice for girls under 16 to be required to have either parental consent or a psychiatric referral before an abortion is performed.

In Victoria

A case in Victoria in 1969, the Menhennit ruling, established the grounds that “an abortion is allowable if there is serious danger to the life or physical or mental health of the mother.”

Reasons for Abortion In Australia

Life: to save the life of the mother

Health: to preserve the physical health of the mother

Mental: to preserve the mental health of the mother

Rape: in cases of rape and incest

Defect: when the unborn child has medical problems or birth defects

Social :for social and/or economic reasons, e.g. if the mother cannot afford to support a child

Demand: available on demand, no reason need be given

Many countries have restrictions in regards to trimesters.

United Kingdom; rape and demand are not legal reasons.

Good website about abortion in different countries

http://www.pregnantpause.org/lex/world02.htm

Apparently, the legal age for sex in Malaysia is the same as in Australia. Sorry about the wrong info on Monday, guys.


Legally, rape is the insertion of the penis into the vagina against the will of the victim. However, if the victim is under 16 years of age, sex with or without consent is statutory rape. Section 376 of the Penal Code states that whoever commits rape shall be punished with imprisonment for a minimum term of five years and a maximum term of twenty years, and shall be liable to whipping.

-Women's Aid Organisation Malaysia
http://www.wao.org.my/news/20020501knowrghts_rape.htm

Clinical Features of Beta Thalassaemia

Beta Thalassaemia
Thalassaemia Minor (heterozygous carrier state)
- Asymptomatic (no symptoms)
- Can experience mild weakness or fatigue.
- Anaemia is mild or absent.

Thalassaemia Intermedia.
- Moderate anaemia (Hb 7 - 10g/dL)
- Doesn't usually require transfusions
- May have:

• Splenomegaly
• Bone deformities
• Recurrent leg ulcers
• Infections

Thalassaemia Major (Cooley's Anaemia)
- For more children in their first year of life:

• Failure to thrive and recurrent bacterial infections.
• Irritability.
• Difficulty feeding
• Progressive paleness

- As development continues, severe anaemia can onset from 3 - 6 months.
- Extrameduallry haemopoiesis (outside of medulle, formation of blood cellular components) can occur. Leads to hepatosplenomegaly and bone expansion.
- Skull has a "hair on end" appearance as a result of bone expansion.
- Skeletal deformities
- Increased iron, iron absoprtion and iron from transfusion can lead to systemic iron overload.

Alpha Thalassaemia
- Dependant on 4 genetic loci for alpha globin. Severity of disease depends on how many loci are mutated:
- 4 Loci:

• Foetus cannot live outside uterus.
• May not survive gestation.
• Hydrops fetalis (edema in subcutaneous tissue) may occur. May lead to spontaneous abortion.

- 3 Loci:

• Moderate anaemia (Hb 7 - 10g/dL)
• Splenomegaly
• Not usually transufion dependant.

- 2 Loci:

• Microcytosis of cells.
• Can occur with or without anaemia.

- 1 Loci:

• Blood picture is normal

Management of Thalassaemia

Aims of management:
-Suppress ineffective erythropoiesis.
-Prevent bony deformities.
-Allow normal activity and development.

Treatment:
-Long term folic acid supplements.
-Regular blood transfusions every 4-6 weeks to keep Hb above 10 g/dL.
-Bone marrow transplant. (but high mortality for patients in poor condition, with iron overload or liver dysfunction.)

Complications of treatment:
-Iron overload due to repeated transfusions (transfusion haemosiderosis) which may damage endocrine glands, liver, pancreas and myocardium. Assessed via measuring the serum ferritin and hepatic iron stores.
To overcome this problem, treatment with iron chelating agents. The agent of choice reamins desferrioxaminegiven as overnight subcutaneous injection 5-7 nights a week. Ascorbic acid 200 mg is also given to increase urinary excretion of iron in response to desferrioxamine.
An alternative agent is ICL670 administered orally, but long term studiesare still awaited. However, treatment with iron chelating agents are not without complications as excessive doses of desferrioxamine may cause cataracts, retinal nerve damage, deafness and infection with Yersinia enterocolitica. Compliance could be another problem.
-Requirement of increased blood transfusions may make a splenectomy recommended. And prophylaxis against infection is required for patients undergoing one.

Source: Clinical Medicine, 6th edition, Kumar and Clark.

Implications for genetic testing for carriers for people with both Thalassaemia and other inherited conditions.

Depending on the level of confidentiality taken on disclosure of information about genetic testing many areas of a person’s life can be affected.
In particular it can affect their ability to obtain life/health insurance, if it is a legal obligation to disclose information to these companies to obtain insurance, like it is at present for past health conditions.
Also, it could affect a person’s employment as if a person with an inherited disease that will appear in later life (eg. Huntington’s disease), particularly if the job involves training at a cost to the company.
Furthermore, it has implications on the family of the carrier. If they have seen the sufferings of the disease and a chance is that their child may have it then they may opt to not have children full stop. Could lead to family break downs as a result of one parent’s wish to not have a child or the placement of blame on one another if a child is born with a disorder.
Some inherited conditions can be multifactorial, and so not be just down to the genes, but people can over react and change their life plan even though they may never actually suffer the disorder.
On a legal basis it brings up many issues on who should be allowed to know about a person’s genetic portrait and the possible stigmas attached to carriers of inherited conditions.
In a good way, a person is able to weigh up the risks, and know of any conditions they may hold and the likely hood of passing it on. It gives a person more information in that way.
Therefore, the implications of genetic testing for those who are carriers of inherited conditions such as Thalassaemia could affect their insurance, relationships, possibility of having children, employment, and their decision of whether to have children or not, and so it pretty much affects their whole life.

http://www.lbl.gov/Education/ELSI/genetic-testing.html
and all other sites pretty much involved with the ELSI genetic testing thing, but this is the better one.

Options for carriers of Thalassaemia

--Beta thalassemia is the most common hereditary disease in Iran, where religious beliefs make it practically impossible to have legal therapeutic abortions. Instead there has been emphasis on identifying “both carrier” fiancés and providing genetic counselling to change their minds, and not allowing them to marry anyway.
--In the Uva Province in Sri Lanka a prevention has been suggested that is also based on prevention of marriages between carriers. This could be achieved by carrier screening and counselling of teenagers and adolescents well before they select their partners, so that risk marriages do not occur
--Another option is for couples to be screened before pregnancy. If they are both carriers they can be counselled and made aware of other options which include adopting a child or egg or sperm donation
--During early pregnancy the mother can be screened and, if she is a carrier, it is suggested that the father be tested also. If both parents are carriers – or if the baby’s father decides not to be tested – there is the choice of a diagnostic test to determine whether the baby has a disorder, which should be done as early as possible during pregnancy.
--If the baby is found to have thalassaemia the couple should then be counselled, so that they are aware of:
- The risk that Hb Bart’s hydrops syndrome not only leads to the death of the baby but may also adversely affect the mother’s health during pregnancy
- The effects that the disease will have on their child and history of disease eg life expectancy
- The cost of treatment including money, time and effects it may have on the family
- The care available for sufferers of Thalassaemia
- Support programs that exist in their community
--The parents may then choose to terminate the pregnancy, OR
--Continue the pregnancy, in which case a management plan should be created (including financial and family aspects not just treatment) so that the parents are able to care for the child with Thalassaemia and know about all of the support and help available


http://www.kier.kyoto-u.ac.jp/DP/DP562.pdf
http://taylorandfrancis.metapress.com/content/q374405t10841676/
http://www.sickle-thalassaemia.org/Alpha%20Thal.htm
http://www.scpath.com.au/scplet15.htm
http://www.indianpediatrics.net/99nov6.htm
http://www.kcl-phs.org.uk/haemscreening/Documents/PreScreeningLeafletNov2006.pdf
Lecture on Genetics Counselling from week 6

Haematological disorders associated with Thalassaemia

Normally α and β in 1:1 ratio.
Precipitation of globin chains within RBC precursors, which causes ineffective erythropoiesis.
The precipitation of globin chains in mature RBC leads to haemolysis.

β Thalassaemia

Excess of α, precipitate in erythroblasts and RBC’s causing ineffective erythrocytosis and haemolysis.

Type of thalassaemia Haematological problems

Minor (trait) Usually symptomless microcytosis but mild anaemia may be present

Intermedia Moderate anaemia, may have splenomegaly, bone deformities.

Major (Cooley’s anaemia) Severe anaemia, extramedullary haemopoeisis which leads to hepatosplenomegaly and bone expansion giving the “hair on end” of bone appearance.


α Thalassaemia
Excess of β, but as all normal haemoglobin contains α globin, if all 4 genes are deleted, the haemoglobin barts produced are incapable of carrying oxygen and the foetus dies.

Type of mutation Haematological problems
4 gene Fatal- pale, oedematous, hydrops fetalis
3 gene Moderate anaemia, splenomegaly
2 gene Microcytosis with or without mild anaemia
1 gene Usually normal blood



Precipitation: globin chains separated out from solution into a solid form.
Precursors: The reactions that form red blood cells (RBC).
Erythropoiesis: The production of erythrocytes (RBC).
Haemolysis: The rupturing of RBC’s.
Hydrops fetalis: enormous liver and spleen
(Hepato)splenomegaly: enlarged spleen (and liver)
Microcytosis: the presence of microcytes (abnormally small red blood cells) in the blood
Oedematous: An excessive accumulation of serous (serum) fluid in tissue spaces or a body cavity
Extramedullary haemopoiesis: The formation and development of blood cells outside the bone marrow, as in the spleen; liver; or lymph nodes.
Erythroblasts: nucleated (with nucleuses) cells that develop into RBC’s.
Erythrocytosis: excess of RBC’s

Thalassaemia - Genetic errors

Genetic errors that cause Thalassaemia

β-Thalassaemia

Genes for β-globins are located on chromosome 11.
There are over 200 different genetic defects which lead to β-thalassaemia.
Defects are caused mainly by point mutations rather than gene deletions. These result in defects in transcription, RNA splicing and modification, translation via frame shifts and nonsense codons.
The β-globins produced are highly unstable and can’t be used properly.
Either no functional β-globins are produced or they are produced in reduced amounts.

β-thalassaemia major

Both copies of the beta chain gene have mutations, so all haemoglobin are either lacking beta chains or have impaired ones.

β-thalassaemia minor

One copy of the beta chain gene is mutated, one is normal, so therefore enough normal haemoglobin can be produced. People who have this mutation are carriers of it.

α-Thalassaemia

Often caused by gene deletions, although mutations do occur e.g. mutations in stop codons produce α-chains with many more amino acids.
Two copies of the α-chain genes on both chromosomes 16, resulting in total of four genes.
Four-gene deletion, three-gene deletion, two-gene deletion and one-gene deletion can occur.
Either no functional α-chains are produced or they are produced in reduced amounts.

α-thalassaemia major

There is mutation in both copies of the alpha chain gene resulting in either impaired alpha chains being produced or none at all being produced.

α-thalassaemia minor

One copy of the alpha chain gene is mutated, one is normal, so there is enough normal haemoglobin being produced to have little effect on the person. People with this mutation are carriers of it.


Sources

Kumar, P & Clark, M. 2005, Clinical Medicine: A Textbook for Medical Students and Doctors, 6th edn, Saunders, Philadelphia.

http://www.genetics.com.au/factsheet/34.htm 05/04/07