Fetal Alcohol Syndrome

Fetal Alcohol Syndrome/Fetal Alcohol Effects is a problem running rampant and out of control all across America.  Fetal Alcohol Syndrome is the effect of pregnant women-drinking alcohol.  Through education, we can eradicate this expensive and debilitating disease that is plaguing our children and our country. 

Fetal Alcohol Syndrome was first diagnosed about 25 years ago. A group of doctors at the University of Washington in Seattle corned the term Fetal Alcohol Syndrome in 1973 (Dorris 143).  Prior to this Fetal Alcohol Syndrome/Fetal Alcohol Effects children were misdiagnosed as problem children or Learning Disabled.  Some were mistaken for bad kids and sent to homes for juvenile delinquents. 

        Fetal Alcohol Syndrome (FAS) is a grouping of defects that may occur in infants born to women who drink alcohol during pregnancy. Amy Nevitt states, FAS, the leading cause of retardation in the west affects more than 8000 babies in the United States every year. 

FAS is a birth defect caused by a woman’s consumption of alcohol while she is pregnant. FAS is one hundred percent preventable, however, because of their mother’s decision to drink alcohol during pregnancy, none of the thousands of affected babies had a chance to be born normal (13).  As stated by the British Columbia Fetal Alcohol Community Action Guide (B.C. FAS), “Fetal Alcohol Syndrome is a condition affecting some children born to women who drank heavily during pregnancy” (7). 

Fetal Alcohol Effects is a term used to describe Partial FAS.  The B.C. FAS says the new term for describing FAE effects is Alcohol-Related Birth Defects (ARBD)(9).  FAE is best described by the B.C. FAS who says, “FAE has been used to imply a ‘milder’ form of FAS, but the cognitive and behavioral problems described by FAE (now partial FAS and ARND) can be very debilitating, causing life long disability which is not ‘mild’ or insignificant” (8). 

        As written in the B.C. FAS booklet:

“Partial FAS is the recommended term used to describe the cluster of problems facing those, who have: [SIC] evidence of some of the characteristic facial abnormalities associated with FAS [,] evidence of one other component of FAS, i.e. growth deficiency or brain damage, including behavioural and cognitive problems when it is known that there was significant exposure to alcohol in utero”. (8) 

We ask ourselves what causes Fetal Alcohol Syndrome/Fetal Alcohol Effects!  Amy Nevitt articulates, “Alcohol is a teratogenic drug.  This means that it can cause birth defects” (15).  The more information we have about alcohol and its effects the sooner we can help stop this debilitating disease.  Lyn Weiner and Barbara A. Morse declares: 

Ethanol has the potential to cause a greater variety of metabolic and physiologic disturbances of fetal development than any other commonly ingested substance.  The clinical and experimental literature provides an ever-increasing understanding of the mechanisms underlying alcohol’s adverse effects on fetal development.  Effects vary with each gestational stage.  Alcohol consumption throughout pregnancy is associated with the most severe outcome.  The demonstrated benefits when heavy drinking ceases reinforces the value of providing supportive therapy to women at risk.  The prenatal setting is an important site for prevention of alcohol-related birth defects.  Identification and treatment of problem drinking pregnant women holds the greatest promise for the prevention of alcohol-related birth defects.  (145)

       

As stated by Weiner and Morse, through experimental studies clinical observations have shown “structural growth and behavioral defects in association with maternal ethanol exposure”.  The consumption of alcohol has since been widely acknowledged to be a risk factor for adverse pregnancy outcome (126-27).

Drinking when pregnant causes damage to the fetus.  According to Nevitt, “The amount of damage depends on the frequency, quantity, and timing of the mother’s alcohol consumption” (18). The facts of how many pregnant women who drink while pregnant, according to Nevitt is, “ About 16 percent of pregnant women drink enough alcohol to be at risk for bearing children with some negative effects (13).  

It is unclear how much alcohol consumption a pregnant woman can or can not drink during pregnancy (Nevitt 17,18).  The best thing is to abstain from drinking any alcoholic beverages while pregnant. Signs of FAS include low birth weight and an abnormally small head; facial deformities such as small and narrow or very round eyes, flattened midface and widely spaced nose, very narrow upper lip, and oddly set ears; and mild to moderate mental retardation. As FAS children develop, they also often exhibit behavioral and cognitive problems. In some cases the defects are severe and are accompanied by other systemic abnormalities. When some but not all of these signs are observed, they are more generally known as fetal alcohol effects (FAE)(Weiner and Morse 128). 

Children with FAE are less likely to be diagnosed early in life because they don’t get treatment as early as FAS children because they are identified as needing help much later in life.  Which is sometimes too late to help them.

        There are many adverse effects of drinking alcohol.  As early as 1886 doctors noted the frequency of reported spontaneous abortions by women who were alcoholics (Abel 47).  As illustrated in the article by Rana Shaskin, the birth defects associated with FAS are groupings of defects are present.  These defects are central nerve system damage, growth deficiency, and physical abnormality (1).  The average birth weight of an FAS baby is almost three pounds lighter than the median birth weight for all infants born in the United States (Abel 55). 

        Other adverse effects of alcohol on the fetus are premature birth.  As Abel says, prenatal death and neurological disorders of surviving children can be connected to the pregnant mother’s alcohol consumption (52).  There are many abnormalities associated with FAS.  The child can have skeletal cardiac, liver, kidney, and urinary; along with neural-tube defects, genital and tumors due to alcohol use by the mother (46).  Research shows that people with FAS have an average IQ of 65.  Scores ranged from 16 to 105 (83).

        Alcohol causes serious damage to the central nervous system (CNS).  As Weiner implies, “The damage to the CNS may be further complicated by a home in which one or both parents is alcoholic” (131).  “The most common sign of alcohol’s’ effects on fetal development is retarded growth in weight, length and head circumference, both in utero and during childhood” (129). 

        As Fetal Alcohol Syndrome/Fetal Alcohol Effects children get older their problems only multiply.  Because as stated by Michael Dorris, FAS students do not seem to try to learn or finish their school assignments.  Usually FAS children show no drive or persistence towards schoolwork (205).  According to Shaskin, as FAS children grow into adolescence their problems increase.  They drop out of school and have more incidents of behavioral problems (4).    

People with FAS have a number of learning disabilities, some of which include a difficulty in generalizing information and matching words with behaviors.  They also have trouble mastering a new skill and remembering things they have recently learned, i.e.: tying a knot(Nevitt 26-8). 

People with FAS also have a “spotty memory,” where they may remember, for example, something that happened a year ago, but cannot remember the day before.  In addition, they have an “inflexibility of thought,” where a person with the syndrome can only understand a concept expressed in one way.  Once that concept has been learned that one way, it is hard for the individual to understand it in any other context.  A difficulty in predicting outcomes is another disability shared by FAS victims.  For example, a child with FAS might not be able to foresee what will happen when he knocks over a cup of juice.  A child with FAS often tends to make the same mistake repeatedly.  Another disturbing trait shared by FAS affected people are a difficulty distinguishing fact from fantasy.  A person with FAS could be watching a movie and go on thinking that what is going on in the movie is actually going on in real life.  People with FAS also have an alarming difficulty distinguishing friends from strangers: they may meet someone once for about five minutes and already consider them a friend, which could be potentially dangerous(Nevitt 26-8).

        Fetal Alcohol Syndrome/Fetal Alcohol Effects babies are very stressful and require lots of caring and understanding. Nevitt summed up many of the difficulties of a parent of a baby that is FAS because there are many unique problem associated with FAS.  Nevitt states, such as FAS/FAE babies do not thrive as well as normal babies; they have poor reflexes, and at times they have no appetite.  It can sometimes take hours to feed a FAS baby four ounces of milk (21).    

Fetal Alcohol Syndrome/Fetal Alcohol Effects people require supervision and stern guidance throughout life.  As Dorris says, FAS caretakers must provide a structured environment to the Fetal Alcohol Syndrome/Fetal Alcohol Effects person.  Any violation must be corrected on the spot, and consistency is a must.  Clear and simple instructions that are set in stone is what works best (247).  The reasons for so much supervision for Fetal Alcohol Syndrome/Fetal Alcohol Effects people is clear, without supervision and a good and understanding caretaker life would be very hard and unfair for an Fetal Alcohol Syndrome/Fetal Alcohol Effects person.  Tanner-Halverson says, FAS adults need a structured environment to do well and live a productive life.  Adult FAS need guidance because they are still easily distracted and forgetful (1B). 

At this time there is no known cure for Fetal Alcohol Syndrome and Fetal Alcohol Effects (NOFAS 2A). The best that society can do is prevention of Fetal Alcohol Syndrome and Fetal Alcohol Effects by educating and informing everyone and anyone who will listen on the adverse effects alcohol can have on babies and society.  The medical field is the most important community to educate for the obvious reason that they are the people who will detect and treat Fetal Alcohol Syndrome and Fetal Alcohol Syndrome babies (NOFAS 1A). 

The next group we should target is the educators, and teach the country’s educators the when, where, what, why, and how to handle a Fetal Alcohol Syndrome or Fetal Alcohol Effects person.  Educators in our elementary and high schools should be able to educate our children on the effects of alcohol on the fetus, due to the rising rate of teen pregnancies (The Arc 2C). 

As stated by Patricia Tanner-Halverson, “Keys to working successfully with Fetal Alcohol Syndrome/Fetal Alcohol Effects children are structure, consistency, variety, brevity and persistence”. The next group we should target is the women who are at risk for having children with Fetal Alcohol Syndrome/Fetal Alcohol Effects and inform and educate them on the dangers of drinking while pregnant.  Show them the consequences and the unnecessary hardships that their baby may have to endure due to her drinking alcohol. 

Education along with intervention and assistance from the community is what will help stop FAS/FAE.  By providing support groups for women who are alcoholic and pregnant, support groups for parent, foster parents, and caretakers of Fetal Alcohol Syndrome/Fetal Alcohol Effects people.

The government could do much more for Fetal Alcohol Syndrome/Fetal Alcohol Effects people. Government could require that people in the medical field be trained for so many hours on the subject of Fetal Alcohol Syndrome/Fetal Alcohol Effects.

Education of the medical field is very important (Fetal Alcohol Syndrome Public Awareness Campaign 1979 206).  Allocating monies and giving grants for research and care of Fetal Alcohol Syndrome/Fetal Alcohol Effects people.  More research is needed to fine out if other drugs can cause Fetal Alcohol Syndrome/Fetal Alcohol Effects (The Arc 2C). 

        If at all possible intervention to prevent alcohol from affecting the fetus should happen as early as possible, the first trimester is when most damage is though to occur.  Which makes intervention as early as possible the best chance of stop Fetal Alcohol Syndrome/Fetal Alcohol Effects from happening to the unborn child.

        To help prevent Fetal Alcohol Syndrome/Fetal Alcohol Effects the father of the unborn child must also be educated on the possible results of the effect alcohol could have on the baby.  It would be a lot easier for the pregnant woman to refrain from drinking if the father did not drink during the pregnancy.  Armed with the knowledge of the effects of Fetal Alcohol Syndrome/Fetal Alcohol Effects perhaps he would provide more support to the expectant mother.  

Fetal alcohol exposure has life long effects and consequences that are not restricted to any one race or socio-economic group.  Fetal Alcohol Syndrome/Fetal Alcohol Effects does not go away, brain damage is permanent, and birth defects are also permanent.  Metal retardation is permanent and irreversible, behavioral problems are permanent; all of these problems associated with Fetal Alcohol Syndrome/Fetal Alcohol Effects are forever and once alcohol has done the damage there is no recovery. 

However, through education we can beat Fetal Alcohol Syndrome/Fetal Alcohol Effects by educating and assisting women who are of the childbearing age.  Simply put, if you’re pregnant don’t drink.  If you need help to quit there are people waiting to help. 

 

Works Cited

Abel, Ernest L. Fetal Alcohol Syndrome. Oredell, New

Jersey: Medical Economics, 1990

British Columbia FAS Community Action Guide. British Columbia:

1997.

Chasnoff, Ira, J. Drugs, Alcohol, Pregnancy and Parenting.

Boston: Kluwer Academic, 1988.

Dorris, Michael. The Broken Cord. New York: Harper & Row,

1989.

The Arc, “Facts about alcohol use during pregnancy.” 1997

http://www.thearc.org/faqs/fas (26 May 1998).

NOFAS, “Fetal Alcohol Syndrome is the name given to a group of

physical and mental birth defects that is the direct

result of a woman’s drinking alcohol during

pregnancy.” 1997 http://www.nofas.org/what.htm (26 May

1998).

Nevitt, Amy. Fetal Alcohol Syndrome. New York: Rosen,

1996

Shaskin, Rana. Fetal Alcohol Syndrome/Effects. Vancouver:

1994.

Tanner-Halverson, Patricia. “Strategies for parents and

Caregivers of FAS and FAE children.” 1997 http://www.nofas.org/strategy.htm (26 May 1998).

United States. The Fetal Alcohol Syndrome Public Awareness

Campaign 1979. Progress Report Concerning The Advance

Notice of Proposed Rulemaking on Warning Labels on

Containers of Alcoholic Beverages and Addendum.

Washington: Department of Treasury, 1979

Diabetes

Contents

 

 Introduction

 

 Overview of Diabetes Type I

 

  What is diabetes type I

           Health implications of diabetes type I

 

 Physical Activity

 

  What is physical activity?

  Why do we need physical activity in our lives?

 

 Physical Activity and Diabetes (Epidemiology)

 

 Conclusion

 

 Bibliography

 

 

 

 Introduction

 

  For our seminar topic "physical activity and disease" we chose diabetes as the focus of our

  research.

 

  Since diabetes is such a complex disease with many different forms, we decided to focus on

  diabetes type I. This is known as insulin-dependent diabetes mellitus (IDDM). This type of

  diabetes includes people who are dependant on injections of insulin on a daily basis in

  order to satisfy the bodies insulin needs, they cannot survive without these injections.

 

 

 

 OVERVIEW OF DIABETES TYPE I

 

  What is diabetes type I?

 

  In order to understand the disease we firstly need to know about insulin. Insulin is a

  hormone. The role of insulin is to convert the food we eat into various useful substances,

  discarding everything that is wasteful.

 

  It is the job of insulin to see that the useful substances are put to best use for our

  well-being. The useful substances are used for building cells, are made ready for immediate

  expenditure as energy and also stored for later energy expenditure.

 

  The cause of diabetes is an absolute or lack of the hormone insulin. As a result of this

  lack of insulin the processes that involve converting the foods we eat into various useful

  substances does not occur.

 

  Insulin comes from the beta cells which are located in the pancreas. In the case of

  diabetes type I almost all of the beta cells have been destroyed. Therefore daily

  injections of insulin become essential to life.

 

 Health implications of diabetes type I

 

 

  One of the products that is of vital importance in our bodies is glucose, a simple

  carbohydrate sugar which is needed by virtually every part of our body as fuel to function.

 

  Insulin controls the amount of glucose distributed to vital organs and also the muscles. In

  diabetics due to the lack of insulin and therefore the control of glucose given to

  different body parts they face death if they don't inject themselves with insulin daily.

 

  Since strict monitoring of diabetes is needed for the control of the disease, little room

  is left for carelessness. As a result diabetic patients are susceptible to many other

  diseases and serious conditions if a proper course of treatment is not followed.

 

  Other diseases a diabetic is open to: Cardiovascular disease, stroke, Peripheral artery

  disease, gangrene, kidney disease, blindness, hypertension, nerve damage, impotence etc.

  Basically there is an increased incident of infection in diabetic sufferers. Therefore

  special care needs to be taken to decrease the chances of getting these other serious

  diseases.

 

 

 

 PHYSICAL ACTIVITY

 

 What is physical activity?

 

  (Bouchard 1988) States that physical activity is any bodily movement produced by skeletal

  muscles resulting in energy expenditure. Therefore this includes sports and leisure

  activities of all forms.   

 

 Why do we need physical activity in our lives?

  Physical activity and exercise helps tune the "human machine", our bodies.

 

  Imagine a car constantly driven only to stop for  fuel. It would be a client for all sorts

  of damage, rusting, oil leaking, dehydration and the chances are most likely it would die

  in the middle of the road not long after. This is what the body would be like if we didn't

  exercise at all. We would be and as a result of todays lifestyle many of us are,  the

  perfect target to all kinds of diseases and infections.

 

  For those of us who are carrier of some disease or illness we are still encouraged to

  exercise by our physicians if we have the strength to. This is to help make our organs,

  muscles, bones and arteries more efficient and better equipped to fight against the disease

  or illness. This is our way of counter attacking. And if we are still healthy then we

  reduce the chances of  getting an illness or a disease.

 

 PHYSICAL ACTIVITY AND DIABETES (EPIDEMIOLOGY)

 

  Recently insulin injections have become available to dependant patients. However in the

  pre-insulin era physical exercise was one of  the few therapies available to physicians in

  combating diabetes.

 

  For an IDDM carrier to benefit from exercise they need to be well aware of their body and

  the consequences of exercising.

 

  If an IDDM carrier has no real control over their situation and just exercise without

  considering their diet, time of insulin intake, type of exercise, duration of the exercise

  and the intensity, then the results can be very hazardous to the patient.

 

  In the first journal article that I used for this part of the research (Sutton 1981) had

  conducted an investigation on "drugs used in metabolic disorders". The article is designed

  to provide some background information on previous beliefs and research conducted early

  this century. As well as his own investigations conducted during the beginning of the

  1980's. He has compared the results and came to the same conclusion as the investigations

  done early in this century. 

 

 

  Sutton's findings show that decrease in blood glucose following an insulin injection was

  magnified when the insulin was followed by physical activity/exercise (see figure 1). This

  shows that if a person gets involved in physical activity or exercise after insulin the

  volume of glucose drops dramatically. This leads to symptoms of hypoglycemia. The reason

  this occurs is that glucose uptake by muscles increase during exercise, in spite of no

  change or even a diminishing plasma insulin concentration.  As a result of this type of

  information we know now that if a patient is not controlled through a good diet and program

  then they could put themselves in danger. A person who might be poorly maintained and

  ketotic will become even more ketotic and hypoglycimic.

 

  Good nutrition is of great importance to any individual especially one that exercises. In

  the case of diabetes even more consideration must go into the selection of food before and

  after exercise. Doctors suggest large intakes of carbohydrates before exercise for diabetes

  carriers to meet the glucose needs of the muscles.

 

 

 

  The second article that I used was that of Konen, et al. He and his colleagues conducted

  testing and research on "changes in diabetic urinary and transferrin excretion after

  moderate exercise". This article was a report of the way the research was conducted and

  it's findings.

 

  The researched found that urinary proteins, particularly albumin, increase in urinary

  excretion after moderate exercise. Albumin which is associated with micro- and

  macrovascular diseases in diabetic patience was found to increase significantly in IDDM

  patients, while remaining normal in non-diabetics. (See table 1 and 2 for results)

 

 

 

  These results cannot be conclusive to say that this shows that exercise causes other micro-

  and macrovascular diseases in diabetics. Since albumin is not associated with any disease

  in non-diabetics then the same may be the case for diabetics as well. However further

  research is required to find out why such a significant increase occurs in diabetic

  patients and what it really means.

 

  It obvious that there are many very complicated issues associated with diabetes which

  cannot be explained at this stage. Therefore much more research is required and it's only a

  matter of time for these complications to resolved.

 

  Although there are no firm evidence to suggest that exercise will improve or worsen

  diabetes still it is recommended by physicians.

 

  Aristotle and the Indian physician, Sushruta, suggested the use of exercise in the

  treatment of diabetic patients as early as 600 B.C. And during late last century and early

  this century many physician claimed that the need for insulin decreased in exercising

  patients.

 

  The benefits of exercise in non-diabetic individuals is well known. For example reduce the

  risk of heart disease. This makes exercise very important to diabetic carriers since they

  are at a greater risk of getting heart disease than non-diabetics.

 

  Unquestionably, it's important for diabetics to optimise cardiovascular and pulmonary

  parameters as it is for non-diabetic individual. Improved fitness can improve one's sense

  of well-being and ability to cope with physical and psychological stresses that can be

  aggravated in diabetes.

 

  In well controlled exercise programs the benefits are many, as shown on table 3.  

 

 

 

 CONCLUSION

 

 

  In conclusion we can see that although there are many factors that need to considered when

  a diabetic person exercises, still there are many benefits when an IDDM carrier controls

  and maintains a good exercise program. The risks of other disease such as heart disease and

  obesity are reduced.

 

 

 

 Bibliography

 

 

  1. Sutton, J.R, (1981), Drugs used in metabolic disorders, Medicine and Science in Sports

  and Exercise, Vol 13, pages 266-271.

 

  2. Konen, J.C, (1993), Changes in diabetic urinary transferrin excretion after moderate

  exercise, Medicine and Science in Sports and Exercise, pages 1110-1114.

 

  3. Bouchard, C, (1990), Exercise, Fitness and Health, Human Kinetics Publishers.

 

  4. Burke, E.J,  (1980), Exercise, Science and Fitness, Mouvement Publishers.

 

  5. Sanborn, M.A, (1980), Issues in Physical Education, Lea and Febiger.

 

  6. Marble, A, (1985), Joslin's Diabetes Mellitus, Twelfth Edition, Lea and Febiger.

 

  7. Kilo, C, (1987), Diabetes - The facts that let you regain control of your life, John

  Wiley and Sons, Inc.

 

  8. Seefeldt, V, (1986), Physical Activity and Well-being, American Alliance for Health,

  Physical Education, Recreation and Dance.

Biology - Genetics

The Cystic Fibrosis Gene

 Introduction:

         Cystic fibrosis is an inherited autosomal recessive disease

 that exerts its main effects on the digestive system and the

 lungs.  This disease is the most common genetic disorder

 amongst Caucasians.  Cystic fibrosis affects about one in

 2,500 people, with one in twenty five being a heterozygote. 

 With the use of antibiotics, the life span of a person

 afflicted with CF can be extended up to thirty years

 however, most die before the age of thirteen.1  Since so

 many people are affected by this disease, it's no wonder

 that CF was the first human genetic disease to be cloned by

 geneticists.  In this paper, I will be focusing on how the

 cystic fibrosis gene was discovered while at the same time,

 discussing the protein defect in the CF gene, the

 bio-chemical defect associated with CF, and possible

 treatments of the disease. 

 Finding the Cystic Fibrosis Gene:

         The classical genetic approach to finding the gene that is

 responsible for causing a genetic disease has been to first

 characterize the bio-chemical defect within the gene, then

 to identify the mutated protein in the gene of interest, and

 finally to locate the actual gene.  However, this classical

 approach proved to be impractical when searching for the CF

 gene.  To find the gene responsible for CF, the principle of

 "reverse genetics" was applied.  Scientists accomplished

 this by linking the disease to a specific chromosome.  After

 this linkage, they isolated the gene of interest on the

 chromosome and then tested its product.2

         Before the disease could be linked to a specific

 chromosome, a marker needed to be found that would always

 travel with the disease.  This marker is known as a

 Restriction Fragment Length Polymorphism or RFLP for short. 

 RFLP's are varying base sequences of DNA in different

 individuals which are known to travel with genetic

 disorders.3  The RFLP for cystic fibrosis was discovered

 through the techniques of Somatic Cell Hybridization and

 through Southern Blot Electrophoresis (gel separation of

 DNA).  By using these techniques, three RFLP's were

 discovered for CF; Doc RI, J3.11, and Met.  Utilizing in

 situ hybridization, scientists discovered the CF gene to be

 located on the long arm of chromosome number seven.  Soon

 after identifying these markers, another marker was

 discovered that segregated more frequently with CF than the

 other markers.  This meant the new marker was closer to the

 CF gene.  At this time, two scientists named Lap-Chu Tsui

 and Francis Collins were able to isolate probes from the CF

 interval.  They were now able to utilize to powerful

 technique of chromosome jumping to speed up the time

 required to isolate the CF gene much faster than if they

 were to use conventional genetic techniques.3

         In order to determine the exact location of the CF gene,

 probes were taken from the nucleotide sequence obtained from

 chromosome jumping.  To get these probes, DNA from a horse,

 a cow, a chicken, and a mouse were separated using Southern

 Blot electrophoresis.  Four probes were found to bind to all

 of the vertebrate's DNA.  This meant that the base pairs

 within the probes discovered contained important

 information, possibly even the gene.  Two of the four probes

 were ruled out as possibilities because they did not contain

 open reading frames which are segments of DNA that produce

 the mRNA responsible for genes.

         The Northern Blot electrophoresis technique was then used

 to distinguish between the two probes still remaining in

 order to find out which one actually contained the CF gene. 

 This could be accomplished because Northern Blot

 electrophoresis utilizes RNA instead of DNA.  The RNA of

 cell types affected with CF, along with the RNA of

 unaffected cell types were placed on a gel.  Probe number

 two bound to the RNA of affected cell types in the pancreas,

 colon, and nose, but did not bind to the RNA from

 non-affected cell types like those of the brain and heart. 

 Probe number one did not bind exclusively to cell types from

 CF affected areas like probe number two did.  From this

 evidence, it was determined that probe number two contained

 the CF gene.

         While isolating the CF gene and screening the genetic

 library made from mRNA (cDNA library), it was discovered

 that probe number two did not hybridize.  The chances for

 hybridization may have been decreased because of the low

 levels of the CF gene present within the probe. 

 Hybridization chances could also have been decreased because

 the cDNA used was not made from the correct cell type

 affected with CF.  The solution to this lack of

 hybridization was to produce a cDNA library made exclusively

 from CF affected cells.  This new library was isolated from

 cells in sweat glands.  By using this new cDNA library,

 probe number two was found to hybridize excessively.  It was

 theorized that this success was due to the large amount of

 the CF gene present in the sweat glands, or the gene itself

 could have been involved in a large protein family. 

 Nevertheless, the binding of the probe proved the CF gene

 was present in the specific sequence of nucleotide bases

 being analyzed. 

         The isolated gene was proven to be responsible for causing

 CF by comparing its base pair sequence to the base pair

 sequence of the same sequence in a non-affected cell.  The

 entire CF cDNA sequence is approximately 6,000 nucleotides

 long.  In those 6,000 n.t.'s, three base pairs were found to

 be missing in affected cells, all three were in exon #10. 

 This deletion results in the loss of a phenylalanine residue

 and it accounts for seventy percent of the CF mutations.  In

 addition to this three base pair deletion pattern, up to 200

 different mutations have been discovered in the gene

 accounting for CF, all to varying degrees.

        

 The Protein Defect:

         The Cystic Fibrosis gene is located at 7q31-32 on

 chromosome number seven and spans about 280 kilo base pairs

 of genomic DNA.  It contains twenty four exons.4  This gene

 codes for a protein involved in trans-membrane ion transport

 called the Cystic Fibrosis Transmembrane Conductance

 Regulator or CFTR.  The 1,480 amino acid protein structure

 of CFTR closely resembles the protein structure of the

 ABC-transporter super family.  It is made up of similar

 halves, each containing a nucleotide-binding fold (NBF), or

 an ATP-binding complex, and a membrane spanning domain

 (MSD).  The MSD makes up the transmembrane Cl- channels. 

 There is also a Regulatory Domain (R-Domain) that is located

 mid-protein which separates both halves of the channels. 

 The R-Domain is unique to CFTR and is not found in any other

 ABC-transporter.  It contains multiple predicted binding

 sites for protein kinase A and protein Kinase C.4 

      Mutations in the first MDS are mainly found in exon #4 and

 exon #7.  These types of mutations have been predicted to

 alter the selectivity of the chloride ion channels.4 

         Mutations that are in the first NBF are predominant in

 CFTR.  As previously mentioned, 70 percent of the mutations

 arising in CF cases are deletions of three base pairs in

 exon #10.  These three base pairs give rise to phenylalanine

 and a mutation at this site is referred to as DF508.5  Such

 a mutation appears not to interfere with R-Domain

 phosphorylation and has even been reported to transport

 chloride ions.6&7 

         There are five other frequent mutations that occur in the

 first NBF.  The first is a deletion of an isoleucine

 residue, DF507.  The second is a substitution of glycine or

 amino acid #551 by aspartic acid/F551D. The third involves 

 stop mutations at arginine #553 and glycine #542.  The

 fourth is substitutions of serine #549 by various other

 residues.  The fifth is a predicted splicing mutation at the

 start of exon #11.7

         Mutations within the R-Domain are extremely rare.  The only

 reason they do occur is because of frameshifts.  Frameshifts

 are mutations occurring due to the starting of the reading

 frame one or two nucleotides later than in the normal gene

 translation.4

         Mutations in the second membrane spanning domain of the

 CFTR are also very rare and have only been detected in exon

 #17b.  These have no relevance to mutations occurring in the

 first membrane spanning domain.  They apparently do not have

 a significant impact on the Cystic Fibrosis Transmembrane

 Conductance Regulator either.4

         Mutations in the second nucleotide-binding fold occur

 frequently in exon #19 and exon #20 by the deletion of a

 stop signal at amino acid number 1282.  Exon #21 is

 sometimes mutated by the substitution of asparagine #1303

 with lysine #N1303K.4

 The Bio-Chemical Defect:

         Studies of the chloride channels on epithelial cells lining

 the lungs, sweat glands, and pancreas have shown a consensus

 in that the activation of chloride secretion in response to

 cAMP (adenosine 3', 5'-monophosphate) is impaired in cystic

 fibrosis cases.  Another affected, independently regulated

 chloride channel that has been discovered is activated by

 calcium-dependent protein kinases.  Sodium ions have also

 been noted to be increasingly absorbed by apical sodium

 channels.8  Therefore, the lack of regulated chloride ion

 transport across the apical membranes and apical absorption

 of sodium ions, impedes the extracellular presence of water. 

 Water will diffuse osmotically into cells and will thus

 cause the dehydration of the sol (5- mm fluid layer of the

 cell membrane) and the gel (blanket of mucus) produced by

 epithelial cells.9  As a result of this diffusion of water,

 airways become blocked and pancreatic proteins turn

 inactive. 

        

 An Account of the Absorption and Secretion of Cl-, Na+, and

 Proteins:

         An inward, electrochemical Na+ gradient is generated by the

 Na+, K+-ATPase pump located in the basolateral membrane (the

 cell side facing the organ it is lining).  A basolateral

 co-transporter then uses the Na+ gradient to transport Cl-

 into the cell against its own gradient.  This is done in

 such a way that when the apical Cl- channels within the

 membrane spanning domain open, Cl- diffuse passively with

 their gradient through the cell membrane.4

         In pancreatic duct cells, a Na+, H+-ATPase pump is used and

 a bicarbonate secretion is exchanged for Cl- uptake in the

 apical membrane.  Chloride ions then diffuse passively when

 the Cl- channels are opened.  Such secretions also allow for

 the exocytosis of proteins in the pancreas which will later

 be taken into the small intestines for the breaking down of

 carbohydrates.4

         In addition to the pump-driven gradients and secretions,

 there exists autonomic neurotransmitter secretions from

 epithelial cells and exocrine glands.  Fluid secretion,

 including Cl-, is stimulated predominately by cholinergic,

 a-adrenergic mechanisms, and the b-adrenergic actions.4  

 Such chemical messengers cannot enter the cell, they can

 only bind to specific receptors on the cell surface and

 transmit messages to and through an intracellular messenger

 such as Ca2+ and cAMP by increasing their concentration. 

 The intracellular message is transmitted across the cell by

 either diffusion or by a direct cascade.  One example of a

 directed cascade is the following:

  Possible Treatments For Cystic Fibrosis:

         One suggested treatment for CF has been to provide the

 missing chemicals to the epithelial cells.  This can be

 accomplished by the addition of adenosine

 3',5'-monophosphate (cAMP) or the addition of the nucleotide

 triphosphates ATP or UTP to cultures of nasal and tracheal

 epithelia.  This has been proven to alter the rate of Cl-

 secretion by removing the 5-mmeter sol layer of fluid in the

 respiratory tract.9  Moreover, luminal application of the

 compound amiloride, which inhibits active Na+ absorption by

 blocking Na+ conductance in the apical membrane, reduced

 cell secretion and absorption to a steady state value.

         Another treatment that has been suggested is to squirt

 solutions of genetically engineered cold viruses in an

 aerosol form into the nasal passages and into the lungs of

 people infected with CF.  This is done in hopes that the

 virus will transport corrected copies of the mutated gene

 into the affected person's airways so it can replace the

 mutated nucleotides.10  This form of treatment is known as

 gene therapy.

         A different approach taken in an attempt to cure cystic

 fibrosis involves correcting the disease while the affected

 "person" is still an embryo.  Test tube fertilization (in

 vitro fertilization) and diagnosis of F508 during embryonic

 development can be accomplished through a biopsy of a

 cleavage-stage embryo, and amplification of DNA from single

 embryonic cells.5  After this treatment, only unaffected

 embryos would be selected for implantation into the uterus. 

 Affected embryo's would be discarded.

 Conclusion:

         Chloride conductance channels have dramatic potentials. 

 One channel can conduct from 1x106 to 1x108 ions per

 second.8  This is particularly impressive when you consider

 the fact that there are not many channels present on cells

 to perform the required tasks.  As a result of this, a

 mutation of one channel or even a partial mutation of a

 channel, that causes a decrease in the percentage of channel

 openings, can exert a major effect.

         Even the mildest of cures altering the Cystic Fibrosis

 Conductance Regulator in CF afflicted people would lead to

 significant improvements in that individuals health.  Since

 cystic fibrosis is the most common genetic disorder,

 particularly amongst Caucasians, in today's society, intense

 research efforts towards its cure would be invaluable.  When

 will cystic fibrosis be completely cured?  No one can say

 for sure but, strong steps have already been taken towards

 reaching this goal.

Concept of Species

 Over the last few decades the Biological Species Concept (BSC)

has become predominately the dominant species definition used.

This concept defines a species as a reproductive community.

  This though has had much refinement through the years. The

earliest precursor to the concept is in Du Rietz (1930), then

later Dobzhansky added  to this definition in 1937.But even after

this the definition was highly restrictive. The definition of a

species that is  accepted as the Biological species concept was

founded by Ernst Mayr (1942);

 “..groups of actually or potentially interbreeding  natural

populations which are reproductively isolated from other such

groups”

 However, this is a definition on what happens in nature. Mayr

later amended this definition to include an ecological component;

“..a reproductive community of populations (reproductively

isolated from others) that occupies a specific niche in nature

 The BSC is greatly accepted amongst vertebrate zoologists &

entomologists. Two reasons account for this .Firstly these are

the groups that the authors of the BSC worked with. (Mayr is an

ornithologist & Dobzhansky has worked mainly with Drosophila).

More  importantly Sexual reproduction is the predominate form of

reproduction in these groups. It is not coincidental that the BSC

is less widely used amongst botanists.  Terrestrial plants

exhibit much more greater diversity in their mode of reproduction

than  vertebrates and insects.

 There has been many criticisms of the BSC in its theoretical

validity and practical utility. For example, the application of

the BSC to a number of groups is problematic because of

interspecific hybridisation between clearly delimited

species.(Skelton).

 It cant be applied to species that reproduce asexually ( e.g

Bdelloid rotifers,eugelenoid flagellates ).Asexual forms of

normally sexual organisms are also known. Prokaryotes are also

left out by the concept because sexuality as defined in the

eukaryotes  is unknown.

 The Biological species concept is also questionable in those

land plants that primarily self-pollinate.(Cronquist 1988).

 Practically the BSC has its limitations in the most obvious form

of fossils.-It cant be applied to this evolutionary distinct

group because they no longer mate.( Do homo Erectus and homo

sapiens represent the same or different species?)

 It  also has limitations when practically applied to delimit

species. The BSC suggests breeding experiments as the test of

whether a n organism is a distinct species. But this is a test

rarely made, as the number of crosses needed to delimit a species

can be massive. So the time, effort and money needed to carry out

such tests is prohibitive. Not only this but the experiment

carried out are often inconclusive.

 In practice even strong believers of the BSC use phenetic

similarities and discontinuties for delimiting species.

 Although more widely known ,several alternatives to the 

biological species concept exist. 

  The Phenetic (or Morphological / Recognition) Species Concept

proposes an alternative to the BSC (Cronquist) that has been

called a "renewed practical species definition". This  defines

species as;

       "... the smallest groups that are consistently and

persistently distinct and distinguishable by ordinary means."

 Problems with this definition can be seen ,once again depending

on the background of the user.  For example "ordinary means"

includes any techniques that are widely available, cheap and

relatively easy to apply. These means will differ among different

groups of organisms. For example, to a botanist working with

angiosperms ordinary means might mean a hand lens; to an

entomologist working with beetles it might mean a dissecting

microscope; to a phycologist working with diatoms it might mean a

scanning electron microscope. What means are ordinary are

determined by what is needed to examine the organisms in

question.  So once again we see that it is a Subjective view 

depending on how the biologist wants to read the definition. It

also has similar difficulties to the BSC in defining between

asexual species and existence of hybrids.

 There are several phylogenetic species definitions. All of them

suggest hat classifications should reflect the best supported

hypotheses of the phylogeny of the organisms. Baum (1992)

describes two types of phylogenetic species concepts, one of thes

is that A species must be monophyletic and share one or more

derived character. There are two meanings to monophyletic (Nelson

1989). The first defines a monophyletic group as all the

descendants of a common ancestor and the ancestor. The second

defines a monophyletic group as a group of organisms that

are more closely related to each  other than to any other

organisms.

 So really, the species concepts are only theoretical and by no

means no standard as to which species should be grouped. However

it can be argued that without a more stuructured approached

proper discussion can not occur due to conflicting species names.

 And so, if there are quite large problems with all of the

species concepts, the question about what is used in practicehas

to be asked. Most taxonomists use on or  more of four main

criteria; (Stace 1990) 

1.The individuals should bear a close resemblance to one another

        such that they are always   readily recognisable as members

        of that  group

2.There are gaps between  the spectra of variation exhibite by

        related species; if there are no   such gaps then there is a

        case for amalgamating the taxtas a single species.

3.Each species occupies a definable geographical area (wide or

        narrow) and is demonstrably suited to the environmental

        conditions which it encounters.

4.In sexual taxa, the individuals should be capable of 

        interbreeding with little or no loss of fertility, and there

        are should be some reduction in the levelll or success

        (measured in terms of  hybrid fetility or competitiveness of

        crossing with other species.

 Of course, as has been seen, no one of these criteria is

absolute and it is more often left to the taxonomists own

judgement.

 Quite frequently a classification system is brought about from

the wrong reasons. Between two taxa similarities and differences

can be found which have to be consisdered ,and it is simply up to

the taxonomists discretion as to which differences or simila

rities should be empahasised. So differences are naturally going

to arise between taxonomists.The system used  can be brought

about for convienience, from historical  aspects and to save

argument. - It may be a lot easier to stick with a current

concept, although requiring radical changes, because of the

upheaval and confusion that may be caused.

 As seen much has been written on the different concepts and

improvements to these concepts but  these amount to little more

than personal judgements aimed at producing a workable

classification (Stace).In general most Biologists adopt the

definition of species that is most suited to the type of animal

or plant that they are working with at the time and use their own

judgement as to what that means. It is common practice amongst

most taxonomists to look for discontinuities in variation which

can be used to delimit the kingdoms,divisions etc.. Between a

group of closley related taxa it can be useful, although highly

subjective, to use the crtieria of equivalence or comparibility.

Usually however, the criteria of discontinuity is more accurate

than comparibility ,even if the taxa are widely different.

References

Mayr, Ernst, 1904-/Systematics and the origin of species : from

the viewpoint of a zoologist/1942/QH 366

Cronquist, Arthur / The evolution and classification of flowering

plants/1968/QK 980

Stace, Clive A., Clive Anthony, 1938-/ Plant taxonomy and

biosystematics/1991/QK 990

Stuessy, Tod F / Plant taxonomy : the systematic evaluation of

comparative data/1990/QK 95

Evolution : a biological and palaeontological approach / editor

[for the Course Team] Peter Skelton/1993/QH 366

http://wfscnet.tamu.edu/courses/wfsc403/ch_7.htm  - Interspecific

Competition

http://sevilleta.unm.edu/~lruedas/systmat.html  - Phylogenetic

Species Concept

Anti-Matter

Introduction       

Ordinary matter has negatively charged electrons circling a positively charged nuclei. Anti-matter has positively charged electrons - positrons - orbiting a nuclei with a negative charge - anti-protons.  Only anti-protons and positrons are able to be produced at this time, but scientists in Switzerland have begun a series of experiments which they believe will lead to the creation of the first anti-matter element -- Anti-Hydrogen.   

The Research 

      Early scientists often made two mistakes about anti-matter.  Some thought it had a negative mass, and would thus feel gravity as a push rather than a pull.  If this were so, the antiproton's negative mass/energy would cancel the proton's when they met and nothing would remain; in reality, two extremely high-energy gamma photons are produced.  Today's theories of the universe say that there is no such thing as a negative mass.
      The second and more subtle mistake is the idea that anti-water would only annihilate with ordinary water, and could safety be kept in (say) an iron container.  This is not so: it is the subatomic particles that react so destructively, and their arrangement makes no difference.
       Scientists at CERN in Geneva are working on a device called the LEAR (low energy anti-proton ring) in an attempt to slow the velocity of the anti-protons to a billionth of their normal speeds.  The slowing of the anti-protons and positrons, which normally travel at a velocity of that near the speed of light, is neccesary so that they have a chance of meeting and combining into anti-hydrogen.
       The problems with research in the field of anti-matter is that when the anti-matter elements touch matter elements they annihilate each other.  The total combined mass of both elements are released in a spectacular blast of energy. Electrons and positrons come together and vanish into high-energy gamma rays (plus a certain number of harmless neutrinos, which pass through whole planets without effect).  Hitting ordinary matter, 1 kg of anti-matter explodes with  the force of up to 43 million tons of TNT - as though several thousand Hiroshima bombs were detonated at once.
      So how can anti-matter be stored? Space seems the only place, both for storage and for large-scale production.  On Earth, gravity will sooner or later pull any anti-matter into disastrous contact with matter.  Anti-matter has the opposite effect of gravity on it, the anti-matter is 'pushed away' by the gravitational force due to its opposite nature to that of matter.  A way around the gravity problem appears at CERN, where fast moving anti-protons can be held in a 'storage ring' around which they constantly move - and kept away from the walls of the vacuum chamber - by magnetic fields.  However, this only works for charged particles, it does not work for anti-neutrons, for example.  The Unanswerable Question  Though anti-matter can be manufactured, slowly, natural anti-matter has never been found.  In theory, we should expect equal amounts of matter and anti-matter to be formed at the beginning of the universe - perhaps some far off galaxies are the made of anti-matter that somehow became separated from matter long ago.  A problem with the theory is that cosmic rays that reach Earth from far-off parts are often made up of protons or even nuclei, never of anti-protons or antinuclei.  There may be no natural anti-matter anywhere.

        In that case, what happened to it?  The most obvious answer is that, as predicted by theory, all the matter and anti-matter underwent mutual annihilation in the first seconds of creation; but why there do we still have matter?  It seems unlikely that more matter than anti-matter should be formed.  In this scenario, the matter would have to exceed the anti-matter by one part in 1000 million. 
            An alternative theory is produced by the physicist M. Goldhaber in 1956, is that the universe divided into two parts after its formation - the universe that we live in, and an alternate universe of anti-matter that cannot be observed by us.

  The Chemistry 



        Though they have no charge, anti-neutrons differ from neutrons in having opposite 'spin' and 'baryon number'.  All heavy particles, like protons or neutrons, are called baryons.  A firm rule is that the total baryon number cannot change, though this apparently fails inside black holes.  A neutron (baryon number +1) can become a proton (baryon number +1) and an electron (baryon number 0 since an electron is not a baryon but a light particle).  The total electric charge stays at zero and the total baryon number at  +1.  But a proton cannot simply be annihilated.
       A proton and anti-proton (baryon number -1) can join together in an annihilation of both.  The two heavy particles meet in a flare of energy and vanish, their mass converted to high-energy radiation wile their opposite charges and baryon numbers cancel out.  We can make antiprotons in the laboratory by turning this process round, using a particle accelerator to smash protons together at such enormous energies that the energy of collision is more than twice the mass/energy of a proton.
  The resulting reaction is written:
                                 p + p              p + p + p + p    Two protons (p) become three protons plus an antiproton(p); the total baryon number before is:
                       1 + 1 = 2 And after the collision it is:
                       1 + 1 + 1 - 1 =  2    Still two.

        Anti-matter elements have the same properties as matter properties.  For example, two atoms of anti-hydrogen and one atom of anti-oxygen would become anti-water.  The Article     The article chosen reflects on recent advancements in anti-matter research.  Scientists in Switzerland have begun experimenting with a LEAR device (low energy anti-proton ring) which would slow the particle velocity by a billionth of its original velocity.  This is all done in an effort to slow the velocity to such a speed where it can combine chemically with positrons to form anti-hydrogen.    The author of the article, whose name was not included on the article, failed to investigate other anti-matter research laboratories and their advancements.  The author focused on the CERN research laboratory in Geneva. 'The intriguing thing about our work is that it flies in the face of all other current developments in particle physics' . 
     The article also focused on the intrigue into the discovering the anti-matter secret, but did not mention much on the destruction and mayhem anti-matter would cause if not treated with the utmost care and safety.  Discovering anti-matter could mean the end of the Earth as we know it, one mistake could mean the end of the world and a release of high-energy gamma rays that could wipe out the life on earth in mere minutes.
       It was a quite interesting article, with a lot of  information that could affect the entire world.  The article, however, did not focus on the benefits or disadvantages of anti-matter nor did it mention the practical uses of anti-matter.  They are too expensive to use for powering rocket ships, and are not safe for household or industrial use, so have no meaning to the general public.  It is merely a race to see who can make the first anti-matter element.  Conclusion       As research continues into the field of anti-matter there might be some very interesting and practical uses of anti-matter in the society of the future.  Until there is a practical use, this is merely an attempt to prove which research lab will be the first to manufacture the anti-matter elements.