Patau

Patau – Patau Syndrome Known As Trisomy 13

Aimee Our Angel

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Feb

05

Welcome To Patau.Net – Our Aim Is To Raise Awareness For Patau Syndrome And Offer Information To Those In Need

Posted By: admin on February 5, 2011 at 12:28 am

AT THE FOX PUB YORK ON THE FRI 22 JULY 2011

Hello And Welcome To

Patau. net

Our newly born daughter Aimee Melody was born & died on the 27th of June 2010.

Aimee lived for 24 minutes & my partner Claire & I spent 20 wonderful minutes holding & talking to Aimee before she peacefully passed away.

We found out that Aimee had Trisomy 13 (Patau Syndrome) when my partner, Claire was 21 weeks into her pregnancy. Nothing can prepare you to how you should feel when you are told that your baby has problems. Trisomy 13 babies have a 5% chance that they will reach their 1st birthday. In some cases, some babies do reach their teens & adulthood.

Like everyone in our situation, I craved information & we needed to speak to someone that understood our situation & that is when we found SOFT UK, the support organisation for Trisomy 13/18 & related disorders.

When we knew that there was a dedicated charity that understood our position, we felt as if the biggest weight had been lifted off our shoulders.

SOFT UK is unbiased on every level & as well as their fantastic website they produce booklets, “Your Unborn Baby” & “Your Baby” to give to parents so they have all the up to date information & also support contacts to speak to people direct.

SOFT UK gave me the strength to ask the right medical questions & face the difficult choices that we had or may have had to make.

Luckily, while Claire was still pregnant, we jumped at the opportunity to attend SOFT UK’s Annual Family Weekend where there was conference held with talks from professionals, and we met parents that were pregnant, have lost a baby/child & parents that have babies or children with Trisomy13/18 or related disorders.

We were really glad that we attended the SOFT UK Conference & it really helped us knowing that other parents understood what we were going through.

I can not thank SOFT UK enough for the support that they gave & continue giving us.

I feel honoured & very proud to raise money for SOFT UK & If it was my full time job I know in my lifetime I will ever be able to repay back the support & friendship that SOFT UK unselfishly gave us but we can at least try.

I & other families realise the importance of SOFT UK & without fundraising, they could not continue to give others what they gave to us.

Thanks to the understanding & positive impact that SOFT UK had on me, I am a stronger, more positive person that is happy & proud to talk about his little baby daughter Aimee Melody, who has brought our families & friends even closer together.

Kind regards from very proud parents,

Grant & Claire.

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Mar

22

Down Syndrome Characteristics

Posted By: admin on March 22, 2011 at 12:54 pm

Down syndrome is a common genetic disorder in the human community. There are several symptoms of Down syndrome. Sometimes, the symptoms can be easily noticed according to the physical appearance of the baby. Yet, sometimes we unable to determine the symptoms until the child grow up.

As we all know, the most common symptom of Down syndrome patients is mental retardation. However, the level of serious of the mental retardation is different for every patient. Usually, the Down syndrome patients will express some malformations. Many studies show that there are more than 50 types of characteristics related to this common birth defect. Although not all the patients will have the same symptoms, we can see some recurring symptoms too.

Most Common Down Syndrome Features

1. Flattened facial features

2. Head size is small

3. Irregularly ear shape

4. Protruding tongue

5. Upwards slanting eyes

6. Short fingers

7. Mental retardation

8. Poor development

9. Thyroid dysfunction

10. Hypogenitalism of hypergonadism

The features that I have shown above are the most common features of Down syndrome that might be seen on the patients. However, we might see other features on the babies too. For example, most of the patients with this abnormal syndrome are quite emotional. They can easily scream when angry. Most of these symptoms may not show during the infant time. It will start to become obvious when the baby grows.

Generally, the patient looks almost alike to each other. We can simply notice the Down syndrome patient via their physical outlook. The confident clinical diagnosis is hard during the early time after birth. For the female patients, the menarche usually occurs at normal time. Most of the female patients are fertile. They can pregnant. Yet, the male patients usually associated with hypogenitalism. Therefore, they are infertile generally.

This birth defect is caused by the abnormality of genes. They are born with an extra chromosome 21. Normally, we have only a pair of chromosome 21. The extra genetic information often causes those medical problems. The Down syndrome patient will easy to develop cancer cells than others. The abnormality is caused by the errors occurred during the cell division. These errors usually occur during the sperm or egg cell development. The errors occur are closely related to the age of the parents. Women who older than 35 years old will tend to produce the abnormal egg cells.

In conclusion, the patients should get the appropriate treatments to reduce the severity of the symptoms. It is recommended to seek for a doctor’s advice to get the most suitable treatments to the patients.

Are you looking for more information about Down Syndrome? Check out my Down Syndrome review in Cytogenetics Cancer Research blog.
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Mar

21

Introduction of Down Syndrome

Posted By: admin on March 21, 2011 at 4:11 pm

Down syndrome is the most common chromosomal abnormality in the world. It is discovered by John Langdon Down in 1866 after observing some children with mental retardation. There are many features of this genetic disorder.

 

Basically, we can easily know the Down syndrome child via their characteristics. They almost look alike. This syndrome was described as “Mongoloids” before this. But, this sounds like an insult to the Mongolians. Thus, the “Mongoloids” was forbid to be used in the world since 1960s.

 

One of the obvious characteristics is the mental retardation. However, it depends to the serious of the symptom. Not all of them can speak. It is hard for them to learn. They need a lot of time to learn the things such as speaking, walking, crawling, and dressing. There are some courses that specifically designed for the Down syndrome child now. You can just join the group with some simple clicks online.

 

Another basic features is the poor development. The child cannot grow normally. We can easily find them with the small ears, head and eyes. Sometimes, we can see the upturned nose and flat face with them too. The malformations will cause some medical problems too. The medical therapy can help to reduce some of the symptoms effectively.

 

Besides, some of the Down syndrome has the symptom of hypogonadism. Oftenly, this only happen on the males. Thus, the males are usually reproductive failure. Yet, the females’ menarche occurs at normal time. It is possible for them to pregnant.

 

Furthermore, there are many others medical problems that children with this abnormality may encounter. Usually, the Down syndrome patients are born with heart problems. They are easy to get cancer than the normal children. Some of them are born with hearing impairment and poor vision too.

 

There are many hypotheses explaining the causes of Down syndrome. There is an extra chromosome 21 for the Down syndrome patient. This is because of the non-disjunction occurred during the sperm or ovum development. Yet, it is related to the age of parents too. The increase of parental age will increase the risk of having a Down syndrome child. Many cases show that parents who are 35 years old above are in risk of having the child with this abnormality.

 

Summing up, raising a Down syndrome child is not easy. And I believe your love to the baby will overcome everything. Many parents of Down syndrome children would not wish to change a thing for bringing up their unique child even though they are given choice. For them, this is the great things to have such children.

You may find out more about Down syndrome in Down Syndrome review and Down Syndrome Symptoms.


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Mar

20

Hope For Down Syndrom Patients

Posted By: admin on March 20, 2011 at 7:31 pm

US scientists recently discovered an old discontinued drug that reduces the mental retardation in mice with a certain form of Down syndrome, according to a study published in the journal of Nature Neuroscience.

Professor of Psychiatry and Director of the Down Syndrome Research Centre at Stanford University in California, Craig Garner, led the research. His team experimented with Ts65Dn mice bred as model test specimens for Down syndrome. Ts65Dn mice have increased inhibition of the dentate gyrus, the part of the brain near the hippocampus that is associated with learning and memory.

The mice were given a discontinued drug that was originally used for epilepsy in humans, called pentylenetetrazole or PTZ, a GABAA antagonist.

Results were positive. The mice’s ability to explore, learn and remember things improved. Their ability to explore a T-shaped maze improved. In the beginning, they followed random patterns. After only 17 days they were exploring like normal mice.

The improvements continued for two months after the drug therapy ended.

The drug controls the ability of neurons to make connections with each other, a process that is necessary to learning and memory.

People with Down syndrome or “trisomy 21″ have an extra complete or partial copy of chromosome 21, whereas most people have two. It is evident at birth and is associated by facial and body structure alterations. Symptoms include impairment of physical and cognitive development, including heart problems.

This is a problem many parents face with their children. The cost associated with down syndrome is prohibitive at both the personal and community level. A drug that allows people to learn better and function independently in society will be a miracle in many lives..

Statistically, one in 800 children born in the world have Down syndrome. Down syndrome does not prejudice across ethnic or socioeconomic groups. However, babies born to older mothers have an increased risk of Down syndrome. The ratio increases from one in 1,000 in the mother’s twenties, to one in 11 when the mother reaches 49 years old.

Garner and his team claim that over-inhibition of neuronal excitation contributes to the intellectual disability that is commonly associated with Down syndrome.

They believe that GABAA could treat the disorder.

Applying this knowledge to humans is not simple. Large doses of this drug causes epileptic seizures. This is why The Food and Drug Administration withdrew approval for its use in the 1980s.

The research is positive, but people are warned to remember that many drugs which improve learning and cognitive functioning in mice have not worked as well in humans.

”Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome.”

Nature Neuroscience Published online: 25 February 2007

However, people who are struggling to create a life for those who suffer from Down Syndrome are not quick to turn their back on any possible treatment. Even if this drug can improve patients ability to learn how to live independently, slightly, it is worth extending the studies and learning more about the treatments available to patients.

Ethan Miller advises on improving your heath and reducing pain from his web site at http://www.acnescarsmagic.com He invites you to get his FREE health guide http://www.acnerescue.com


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Mar

19

Antioxidants: Chemistry and Their Impact on Health

Posted By: admin on March 19, 2011 at 10:33 pm

1. Introduction In the aerobic environment, the most dangerous by product are the species of reactive oxygen. The role of antioxidants is to detoxify reactive oxygen intermediates (ROI) in the body. Over the past several years, nutritional antioxidants have attracted considerable interest in the popular press as potential treatment for a wide variety of disease states, including cancer and other causes e.g. cancer, chronic inflammatory diseases and aging (Delany L. 1993).

Naturally occurring inhibitors of oxidation in food generally originate from plant-based materials. The active components, namely phenolics and polyphenolics, including tocopherols, are secondary plant metabolites and are first derived from phenylalanine and in certain cases and in some plants from tyrosine. The resultant phenylpropanoids may then undergo further transformation to yield benzoic acid derivatives as well as flavonoids, isoflavons, and other complex polyphenols. Thus, natural food phenolics are present as a complex mixture of compounds that provide a cocktail of many active components present in the free, esterified, glycosylated and bound forms (Shahidi and Naczk, 1995). The potency of preparations is therefore dictated by their chemical structures and governed by the hydrophilic-lipophilic balance (HLB) of the participating molecules in a concentration- and system-dependent manner. Thus, the mode of action of natural antioxidants may involve multiple mechanisms, depending on the source material and possible presence of synergists and antagonists.

*Correspondence to: wasim04101981@yahoo.co.in  

 

 

 

In order to use any antioxidant preparation in food, it must be safe, easy to incorporate, effective at low concentrations, with no undesirable odour, flavour or colour, heat stable, nonvolatile and with good carry through properties and cost-effective. In addition, presence and possible effects of antagonists must be carefully considered, as an antioxidant may become a prooxidant in the presence of certain other molecules. As an example, chlorophylls may overwhelm the antioxidant effect of phenolics due to photosensitized oxidation and transition metal ions such as those of iron and copper may render conditions that favour oxidation. Synergism among different phenolic antioxidants and between phenolics and non-phenolics should be considered in all application areas. Definition

Free radicals are atoms or groups of atoms with an odd (unpaired) number of electrons and can be formed when oxygen interacts with certain molecules. Once formed these highly reactive radicals can start a chain reaction. Their chief danger comes from the damage they can do when they react with important cellular components such as DNA, or the cell membrane. Cells may function poorly or die if this occurs. To prevent free radical the body has a defence system of antioxidants.  

An antioxidant is a substance that when present in low concentrations relative to the oxidizable substrate significantly delays or reduces oxidation of the substrate (Halliwell, 1995).

Antioxidants get their name because they combat oxidation. They are substances that protect other chemicals of the body from damaging oxidation reactions by reacting with free radicals and other reactive oxygen species within the body, hence hindering the process of oxidation. During this reaction the antioxidant sacrifices itself by becoming oxidized. However, antioxidant supply is not unlimited as one antioxidant molecule can only react with a single free radical. Therefore, there is a constant need to replenish antioxidant resources, whether endogenously or through supplementation.

2. Review of Literature

    Qin Yan Zhu et. al.(2001) studied antioxidant property of oolong tree. Inhibitory effect on FeCl2/ H2O2 – induced damage and the inhibitory effect on erythrocyte hemolysis of an oolonge tea extract (OTE) were evaluated. The OTE was found to have strong  antioxidant activity in all model system. When OTE was separated into fractions according to molecular weight it was found that fraction with higher amount of phenolic compound (with low molecular weight) have strong antioxidative activity.

   Yi Fang Chu and Xianzona Wu (2002) reported that increased consumption of fruits and vegetables containing high levels of phytochemicals have been recommended to prevent chronic diseases related to oxidative stress in human body. 10 common vegetables were selected. The study showed that Red peeper had highest total antioxidant activity followed by Broccoli, Carrot, Spinach, Cabbage, Onion, Potato etc.

   Jie Sun and Yi Fang (2002) reported that consumption of fruit & vegetable associated with reduced risk to Chronic disease due to present of antioxidant. According to them vitamin C is the major antioxidant in fruit.

   Jeong- Chae Lee (2002) assessed an ethanol extract of stem of opuntia to determine the mechanism of its antioxidant activities. The ethanol extract exhibited a concentration dependent inhibition of linoleic acid oxidation.

   Keni Chi Ya na Gimoto et. al. (2002) investigated the antioxidant activity of column chromatographic fractions obtained from brewed coffee to find antioxidant and to assess benefits of coffee drinking. Coffee contain many antioxidant and consumption of antioxidant  rich brewed coffee may inhibit disease caused by oxidative damage.

   Anaberta Cardadose et.al. (2003) showed that fraction extracted with ethyl acetate have antioxidant activity with potent free radical scavenging activity.

   Joon Hee Lee et. al. (2003) reported that Muscadine Grapes and its winary bi product have antioxidant capacity.

   Kizhiyedathu et. al. (2003) reported that extract obtained from sesame cake and oil have free radical scavenging capacity i.e. antioxidant property. 

   K.S. Shivashankara and Seiichiro Isobe (2004) reported that if greenhouse- grown tree ripe ( TR) and mature green ( MG) mangoes (cv. Irwin) were exposed to high electric field treatment before 20 and 30 days of storage at 5O C. MG fruits were allowed to ripen at room temperature after low- temperature storage and antioxidant capacity were estimated before and after the storage period. Antioxidant capacity of fruits remained unchanged up to 20 days of storage period and decreased thereafter.  Antioxidant capacity of fruits was significantly correlated only to ascorbic acids.    

   Joseph O. Kuti et.al. (2004) reported that total phenolics and antioxidant capacity were higher in raw that in cooked leaf extracts. Cooking reduced antioxidant activity. The results of their study indicate that tree spinach leaves are a rich source of natural antioxidants.

   Mahinda Wella singh and Kirk Parkin (2004) studied a broad range of antioxidant activities in crude extract of beet root tissues. Betalain pigment have been shown to posses various antioxidant function. 

 

 

 

 

3. Classification of  antioxidants Table 1. Classification of antioxidants based on their  roles

Enzymes

Antioxidant

Role

Remarks

Superoxide dismutase (SOD)

Mitochondrial

Cytoplasmic

Extracellular

Dismutates O2· to H2O2

 

Contains Manganese (Mn.SOD)

Contains Copper & Zinc (CuZnSOD)

Contains Copper (CuSOD)

 

Catalase

Dismutates H2O2 to H2O

Tetrameric hemoprotein present in peroxisomes

 

Glutathione peroxidase (GSH.Px)

Removes H2O2 and lipid peroxides

Selenoproteins (contains Se2+)

Primarily in the cytosol also mitochondria

Uses GSH

 

Vitamins

Alpha tocopherol

Breaks lipid peroxidation

Lipid peroxide and O2· and ·OH scavenger

Fat soluble vitamin

Beta carotene

Scavenges ·OH, O2·and peroxy radicals

Prevents oxidation of vitamin A

Binds to transition metals

 

Fat soluble vitamin

Ascorbic acid

Directly scavenges O2·, ·OH, and H2O2

Neutralizes oxidants from stimulated neutrophils

Contributes to regeneration of vitamin E

 

Water soluble vitamin

 

Table 2.Classification Of antioxidants based on their sources

Source Material

Example

Antioxidant

Vegetable Oils

 

Soybean oil

Tocopherols

Tropical Oils

 

Palm oil

Tocotrienols

Plant Oils

 

Palm oil

Carotenoids

Herbs and Spices

 

Rosemary and Sage

Complex phenolics

Cereals

 

Wheat and buckwheat

Flavenoids

Legumes

 

Soybean

Isoflavones

Oil Seeds

Canola and Mustard

Phenolic acids & Phenylpropanoids

Teas

Green Tea

Catechins and Polyphenols

Fruit skin and seeds

Grape seed and skin

Polyphenols and Tannins

  4. Antioxidant chemistry of some vitamins              4.1 Alpha tocopherol (vitamin E)                   Vitamin E -2D structure – C26H44O2 4.1.1  Nomenclature It is the major lipid soluble antioxidant found in cells. The name originated in the early 1920s when vegetable oil was discovered to restore fertility in rats. This unknown substance was designated vitamin E by Sure in 1924.The term tocopherol was first used by Evans. Because this compound permitted an animal to have offspring, he named it tocopherol from the Greek word tokos, meaning childbirth, and added the verb phero, meaning to bring forth. To indicate the alcohol nature of the molecule, ol was added to the ending.

Vitamin E is a generic term that includes all entities that exhibit the biological activity of natural vitamin E, d-alpha-tocopherol. In nature, eight substances have been found to have vitamin E activity: d-alpha-, d-beta-, d-gamma- and d-delta-tocopherol (which differ in methylation site and side-chain saturation (Kellof et al. 1996); and d-alpha-, d-beta-, d-gamma- and d-delta-tocotrienol. Also, the acetate and succinate derivatives of the natural tocopherols have vitamin E activity, as do synthetic tocopherols and their acetate and succinate derivatives.

Of all these, d-alpha-tocopherol has the highest biopotency, and its activity is the standard against which all the others must be compared. It is the predominant isomer in plasma.

4.1.2 Source and Nature

Vitamin E is an essential nutrient that functions as an antioxidant in the human body. It is essential, by definition, because the body cannot manufacture its own vitamin E and thus it must be provided by foods and supplements.

Tocopherols are present in oils, nuts, seeds, wheat germ and grains. Absorption is believed to be associated with intestinal fat absorption. Approximately 40% of the ingested tocopherol is absorbed. Most tocopherols enter the blood via lymph where they are associated with chylomicrons. Vitamin E was shown to be stored in adipose tissue. Phospholipids of the mitochondria & endoplasmic reticulum & plasma membranes possess affinities for alpha tocopherol & the vitamin tends to concentrate in these sites.

4.1.3 Mechanisms of Action

Vitamin E is more appropriately described as an antioxidant than a vitamin. This is because, unlike most vitamins, it does not act as a co-factor for enzymatic reactions.

Also, deficiency of vitamin E does not produce a disease with rapidly developing symptoms such as scurvy or beriberi. Overt symptoms due to vitamin E deficiency occur only in cases involving fat mal absorption syndromes, premature infants and patients on total parenteral nutrition. The effects of inadequate vitamin E intake usually develop over a long time, typically decades, and have been linked to chronic diseases such as cancer and atherosclerosis.

Hence, its main function is to prevent the peroxidation of membrane phospholipids, and avoids cell membrane damage through its antioxidant action. The lipophilic character of tocopherol enables it to locate in the interior of the cell membrane bilayers (Halliway and Getteridge, 1992; Borg, 1993). Tocopherol-OH can transfer a hydrogen atom with a single electron to a free radical, thus removing the radical before it can interact with cell membrane proteins or generate lipid peroxidation. When tocopherol-OH combines with the free radical, it becomes tocopherol-O·, itself a radical. When ascorbic acid is available, tocopherol-O· plus ascorbate (with its available hydrogen) yields semidehydroascorbate (a weak radical) plus tocopherol-OH (Halliway and Gutteridge, 1992). By this process, an aggressive ROI(Reactive Oxygen Intermediate) is eliminated and a weak ROI (dehydroascorbate) is formed, and tocopherol-OH is regenerated. Despite this complex defence system, there are no known endogenous enzymatic antioxidant systems for the hydroxyl radical.

Vitamin E also stimulates the immune response. Some studies have shown lower incidence of infections when vitamin E levels are high, and vitamin E may inhibit cancer initiation through enhanced immunocompetence.

Vitamin E also has a direct chemical function. It inhibits the conversion of nitrites in smoked, pickled and cured foods to nitrosamines in the stomach. Nitrosamines are strong tumour promoters.

Alpha-tocopherol has been shown to be capable of reducing ferric iron to ferrous iron (i.e. to act as a pro-oxidant). Moreover, the ability of alpha-tocopherol to act as a pro-oxidant (reducing agent) or antioxidant depends on whether all of the alpha-tocopherol becomes consumed in the conversion from ferric to ferrous iron or whether, following this interaction, residual alpha-tocopherol is available to scavenge the resultant ROI (Yamamoto and Nike, 1988).

4.1.4 Possible therapeutic effects

Ø Vitamin E decreases the incidence of ischaemic heart disease (Gey et al. 1991).

Ø Decreases the incidence of cataract (Packer, 1991; 1992).

Ø Decreases the incidence of osteoarthritis (Blankenhorn, 1986).

Ø Decreases the incidence of rheumatoid arthritis (Kheir El-dein et al. 1992).

4.2 Ascorbic acid (vitamin C)                      Vitamin C -2D structure C6H8O6 4.2.1 Source and Nature

Ascorbic acid (vitamin C) is a water-soluble, antioxidant present in citrus fruits, potatoes, tomatoes and green leafy vegetables.

Humans are unable to synthesize l-ascorbic acid from d-glucose due to absence of the enzyme L-gulacolactone oxidase (Ensimnger et al.1995). Hence, humans must therefore obtain ascorbic acid from dietary sources.

4.2.2 Mechanism of Action

The chemopreventive action of vitamin C is attributed to two of its functions. It is a water-soluble chain breaking antioxidant (Ishwarial et at 1991). As an antioxidant, it scavenges free radicals and reactive oxygen molecules, which are produced during metabolic pathways of detoxification. It also prevents formation of carcinogens from precursor compounds (Block and Menkes, 1988). The structure of ascorbic acid is reminiscent of glucose, from which it is derived in the majority of mammals.

One important property is its ability to act as a reducing agent (electron donor). Ascorbic acid is a reducing agent with a hydrogen potential of +O.08V, making it capable of reducing such compounds as a molecular oxygen, nitrate and cytochromes a and c. Donation of one electron by ascorbate gives the semi-dehydroascorbate radical (DHA). Ascorbate reacts rapidly with O2·⁻and even more rapidly with ·OH to give DHA. DHA, itself can act as a source of vitamin C.

 

Ascorbic acid     +     2O2· +     2H      ®             H2O2              +            DHA

It has also been shown that ascorbate is more potent than a-tocopherol in inhibiting the oxidation of LDL  (Low Density Lipoprotein)  in a cell free system (Jialal et at 1990). Co-incubation of LDL with ascorbate during similar oxidative condition inhibited LDL oxidation and resulted in preservation of the endogenous antioxidant in the LDL particle (Ishwarial et at, 1991). The concentration of ascorbate used to inhibit LDL oxidation (40-60 mm) is well within the normal plasma range (23-85 pm).

Vitamin C also contributes to the regeneration of membrane bound oxidized vitamin E. It will react with the a -tocopheroxyl radical, resulting in the generation of tocopherol in this process itself being oxidized to dehydroascorbic acid (Ward & Peters 1995). Vitamin C supplementation in animals leads to increased plasma and tissue levels of vitamin E.

In vitro studies suggest that the antioxidant properties of ascorbic acid may not increase linearly as ascorbic acid concentrations rise (Frei et al. 1989). Moreover, ascorbic acid alone can act as a “pro-oxidant” or reducing agent to react with copper or iron salts. Ferric iron (Fe3+) formed by the reaction, Fe2+ + H2O2 ® HO + ·OH + Fe3+, is converted by ascorbic acid to ferrous (Fe2+) ion. Ferrous iron is therefore recycled to promote the conversion of more H2O2 to ·OH (Halliway et al. 1992).

4.3 Beta Carotene

Me

2-D Structure of Beta Carotene 4.3.1 Source and Nature

Carotenoids are pigmented micronutrients present in fruits and vegetables.

Carotenoids are precursors of vitamin A and have antioxidant effects. While over 600 carotenoids have been found in the food supply, the most common forms are alpha-carotene, beta-carotene, lycopene, crocetin, canthaxanthin, and fucoxanthin. Beta-carotene is the most widely studied. It is composed of two molecules of vitamin A (retinol) joined together. Dietary beta-carotene is converted to retinol at the level of the intestinal mucosa.

4.3.2 Mechanisms of Action

The antioxidant function of beta-carotene is due to its ability to quench singlet oxygen, scavenge free radicals and protect the cell membrane lipids from the harmful effects of oxidative degradation (Krinsky and Deneke, 1982; Santamaria et al. 1991). The quenching involves a physical reaction in which the energy of the excited oxygen is transferred to the carotenoid, forming an excited state molecule (Krinsky, 1993). Quenching of singlet oxygen is the basis for beta-carotene’s well known therapeutic efficacy in erythropoietic protoporphyria (a photosensitivity disorder) (Matthews-Roth, 1993). The ability of beta-carotene and other carotenoids to quench excited oxygen, however, is limited, because the carotenoid itself can be oxidized during the process (autoxidation). Burton and Ingold (Burton and Ingold, 1984) and others have shown that beta-carotene autoxidation in vitro is dose-dependent and dependent upon oxygen concentrations. At higher concentrations, it may function as a pro-oxidant and can activate proteases.

In addition to singlet oxygen, carotenoids are also thought to quench other oxygen free radicals. It is also suggested that beta carotene might react directly with the peroxyl radical at low oxygen tensions; this may provide some synergism to vitamin E which reacts with peroxyl radicals at higher oxygen tensions (Cotgreave et al. 1988).

Carotenoids also have been reported to have a number of other biologic actions, including immuno-enhancement; inhibition of mutagenesis and transformation; and regression of premalignant lesions

          5. Antioxidant chemistry of some enzymes

This includes superoxide dismutase, catalase, and peroxidases.

 5.1 Superoxide dismutase (SOD) 5.1.1 Source and Nature

SOD is an endogenously produced intracellular enzyme present in essentially every cell in the body.Cellular SOD is actually represented by a group of metalloenzymes with various prosthetic groups.The prevalent enzyme is cupro-zinc (CuZn) SOD, which is a stable dimeric protein (32,000 D). SOD appears in three forms: (1) Cu-Zn SOD in the cytoplasm with two subunits, and (2) Mn-SOD in the mitochondrion (Mayes, 1993; Warner, 1994). A third extracellular SOD recently has been described contains Copper (CuSOD).

 

                             2O2·      +   2H  +   SOD    ®      H2O2     +      O2

5.1.2 Mechanism of action

SOD is considered fundamental in the process of eliminating ROI by reducing (adding an electron to) superoxide to form H2O2. Catalase and the selenium-dependent glutathione peroxidase are responsible for reducing H2O2      to   H2O.

The respective enzymes that interact with superoxide and H2O2 are tightly regulated through a feedback system. Excessive superoxide inhibits glutathione peroxidase and catalase to modulate the equation from H2O2 to H2O (see Fig.5). Likewise, increased H2O2 slowly inactivates CuZn-SOD. Meanwhile, catalases and glutathione peroxidase, by reducing H2O2, conserve SOD; and SOD, by reducing superoxide, conserves catalases and glutathione peroxidase. Through this feedback system, steady low levels of SOD, glutathione peroxidase, and catalase, as well as superoxide and H2O2 are maintained, which keeps the entire system in a fully functioning state (Fridovich, 1993).

SOD also exhibits antioxidant activity by reducing O2·⁻ that would otherwise lead to the reduction of Fe3+ to Fe2+ and thereby promote ·OH formation. When the catalase activity is insufficient to metabolize the H2O2 produced SOD will increase the tissue oxidant activity. Hence, it was found that the antioxidant enzymes function as a tightly balanced system, any disruption of this system would lead to promotion of oxidation .

5.2 The catalase enzyme

This enzyme is a protein enzyme present in most aerobic cells in animal tissues. Catalase is present in all body organs being especially concentrated in the liver & erythrocytes.  The brain, heart, skeletal muscle contains only low amounts.

Catalase and glutathione peroxidase seek out hydrogen peroxide and convert it to water and diatomic oxygen. An increase in the production of SOD without a subsequent elevation of catalase or glutathione peroxidase leads to the accumulation of hydrogen peroxide, which gets converted into the hydroxyl radical. Indeed research in the pathogenesis of Down’s syndrome has revealed that the existence of trisomy 21 leads to the overproduction of SOD, the gene for which is located also on chromosome 21. This finding is intriguing in that it reveals the possibility of a genetic link to the increased activity of free radicals. (Krinsky, 1992)

                               2 H2O2 ® 2 H2O + O2          

5.3 Glutathione peroxidase enzyme

The glutathione redox cycle is a central mechanism for reduction of intracellular hydroperoxides.

5.3.1 Source and Nature

It is a tetrameric protein 85,000-D. it has 4 atoms of selenium (Se) bound as seleno-cysteine moieties that confers the catalytic activity. One of the essential requirements is glutathione as a cosubstrate.

Glutathione peroxidase reduces H2O2 to H2O by oxidizing glutathione (GSH) (Equation A). Rereduction of the oxidized form of glutathione (GSSG) is then catalysed by glutathione reductase (Equation B). These enzymes also require trace metal cofactors for maximal efficiency, including selenium for glutathione peroxidase; copper, zinc, or manganese for SOD; and iron for catalase (Halliwell, 1995).

H2O2 + 2 GSH ® GSSG + 2 H2O (equation A)

GSSG + NADPH + H+ ® 2 GSH + NADP+ (equation B)

 

6. Mode of action of antioxidants

There are four routes:

1.Chain breaking reactions, e.g. alpha-tocopherol which acts in lipid phase to trap “ROD” radical.

2.Reducing the concentration of reactive oxygen species e.g. glutathione.

3.Scavenging initiating radicals e.g. superoxide dismutase which acts in aqueous phase to trap superoxide free radicals.

4.Chelating the transition metal catalysts: A group of compounds serves an antioxidant function by sequestration of transition metals that are well-established pro-oxidants. In this way, transferrin, lactoferrin, and ferritin function to keep iron induced oxidant stress in check and ceruloplasmin and albumin as copper sequestrants.

7. Antioxidant System in our body

The body has developed several endogenous antioxidant systems to deal with the production of ROI. These systems can be divided into enzymatic and nonenzymatic groups.

The enzymatic antioxidants include superoxide dismutase (SOD), which catalyses the conversion of O2·⁻ to H2O2 and H2O; catalase, which then converts H2O2 to H2O and O2; and glutathione peroxidase, which reduces H2O2 to H2O.

The nonenzymatic antioxidants include the lipid-soluble vitamins, vitamin E and vitamin A or provitamin A (beta-carotene), and the water-soluble vitamin C and GSH. Vitamin E has been described as the major chain-breaking antioxidant in humans (Packer, 1992). Because of its lipid solubility, vitamin E is located within cell membranes, where it interrupts lipid peroxidation and may play a role in modulating intracellular signalling pathways that rely on ROI (Kagan et al. 1990; Azzi et al. 1993). Vitamin E can also directly quench ROI, including O2·, ·OH, and (Algayer et al. 1992) O2.

8. Commercial Sources of Natural Antioxidants

The most common natural antioxidant preparations in the market are mixed tocopherols, which are by-products of vegetable oil refining. In addition, spices or their oleoresins and extracts, such as those of rosemary and sage, green tea extracts, other plant-based mixtures, such as those of mustard and certain unsaponifiables of edible oils, and, of course, carotenoids are also important (Table 2) ( Ho et al., 1994; Shahidi, 1997).

9. Efficacy of anti oxidants in different systems

The chemical composition and structures of active extract components are important factors governing the efficacy of natural antioxidants in different foods. Thus, phenolic compounds with ortho- and para- dihydroxylation or a hydroxy and a methoxy group are more effective than simple phenolics. In addition, phenylpropanoids with extended conjugation are more effective than benzoic acid derivatives. Furthermore, hydrophilicity and lipophilicity of the active components is dictated by the appropriateness of antioxidants in systems. In general, more hydrophilic antioxidants are better in stabilizing bulk oil than oil-in-water emulsions while the activity of lipophilic antioxidants follows the opposite trend. There are also many other factors that must be taken into account when considering and selecting antioxidants and extracts for food application. Specifically, attention should be paid to the photosensitizing effect of chlorophylls in natural extracts. In addition, the level of incorporation of antioxidants in foods should be optimized and the use of chelating agents considered, when and where appropriate. Many antioxidants behave prooxidatively at high concentrations or when present together with ions of transition metals; such effects are also important when considering the in-vivo activity of antioxidants ( Shahidi and Ho, 2000). Some chelators, such as polyphosphates, in addition to metal sequestration, may also exert other beneficial effects such as to improve the cooking yield and juiciness of meat and poultry products or keeping quality of fresh seafoods. The role of natural antioxidants in foods is expected to rise over the years to come.

10. Summary

Antioxidant are molecules that can safely interact with the free radicals and terminate the chain reactions before the vital molecules are damaged.Although there are several enzyme system and vitamins that scavenges free radicals the principle antioxidant in the body are Vitamin E, Vitamin C,beta carotene, catalase enzyme, super oxide dismutase enzyme,glutathion peroxidase enzyme etc.Vitamin E ,a lipid soluble antioxidant prevent peroxidation of phospholipid.Vitamin C is a water soluble chain breaking antioxidant. Beta carotene  protect cell membrane lipid from harmful effect of antioxidant damage.Catalase ,glutathion peroxidase ,super oxide dismutase  etc. enzyme systems also prevent our body oxidative damage by free radicals.

11. Conclusion

Antioxidant plays an important role to prevent cancer,and other disease.They also have role in slowing ageing process and preventing heart disease.So antioxidant are very much necessary for our body .But our body can’t manufacture these chemicals ,so they must be supplied through diet.Although  there is a little doubt that antioxidant are necessary component for good health , no one knows if supplements should be taken or not and if so how much is optimum.Though antioxidant supplement were thought to be harmless but as we are becoming more aware of this chemicals we come to know that antioxidant may be harmful for our body in some cases.In normal concentration vitamin C and beta carotene are antioxidant but at higher concentration they are pro oxidant and thus harmful .Also very little is known about the long term  consequences of megadoses of antioxidant .the body’s finely tuned mechanism are carefully balanced to withstand a variety of insults.Taking chemicals without understanding of all their effect may disrupt this balance. So we should follow the following recommendations. 

1.  It will be helpful for us to follow a balanced training program that emphasizes regular exercise and to eat 5 servings of fruit or vegetables per day. This will ensure that we are developing our inherent antioxidant systems and that our diet is providing the necessary components.

2.  Weekend warriors should strongly consider a more balanced approach to exercise. Failing that, consider supplementation.

3.  For extremely demanding races (such as an ultra distance event ), or when adapting to high altitude, it will be helpful to take a vitamin E supplement @ 100 to 200 IU per day for several weeks  up to and following the race.

4.  We should look for upcoming FDA recommendations, but we should be wary of advertising and media hype.

     5.  We should not over supplement. 

 

 

12. Future Scope of Research  

Antioxidant are necessary for our health but we do not know the exact dose and the way how to supplement it. So further research are required to know more about antioxidant. There are so many flora and fauna in our environment which may contain antioxidant  chemicals. So there is a huge scope to conduct research work in this interesting topic to know

1)    How much antioxidant supplementation is required.

2)    Natural sources of different antioxidant.

3)    To discover antioxidant property of different chemicals.

4)  To know whether they have any other pharmacological and toxicological effect.      

  Bibliography

Anaberta Cardadose et.al. (2003). Antioxidant Activity In Common Beans. Journal of Agricultural and Food Chemistry. pp. 6975-80.

 

Jeong- Chae Lee (2002). Antioxidant Property of An Ethanol Extract of the Stem of Opuntia fiscus. Journal of Agricultural and Food Chemistry. pp. 6490-6496.

 

Jie Sun and Yi Fang (2002). Antioxidant and Antiprofilactive Activities of Common Fruits. Journal of Agricultural and Food Chemistry. pp. 7449-7454.

 

Joon Hee Lee et. al. (2003). Antioxidant Polyphenolics in Muscadine Grapes Journal of Agricultural and Food Chemistry. pp 480-485.

 

K.S. Shivashankara and Seiichiro Isobe (2004). Fruit Antioxidant Activity of Irwin Mango Fruits Stored at Low Temperature. Journal of Agricultural and Food Chemistry. pp. 1281-1286.

 

Kagan et al. 1990; Azzi et al. (1993).

Keni Chi Ya na Gimoto et. al. (2002). Antioxidative Activities of Fractions Obtained From Brewed Coffee. Journal of Agricultural and Food Chemistry. pp 1281-1290.

 

Mahinda Wella singh and Kirk Parkin (2002). Phase II Enzyme Inducing Activities of Beet Root From Phenotypes of Different Pigmentation. Journal of Agricultural and Food Chemistry. pp. 6704-09.

 

Qin Yan Zhu et. al.(2001). Antioxidant Activities of Oolong Tea. Journal of Agricultural and Food Chemistry. pp. 1280-1286.

 

Shahidi and Ho. (2000).Valcic, S; Burr ,J.A. Timmermann BN, Liebler DC. Department of Pharmacology and Toxicology, College of Pharmacy, The University of Arizona, Tucson, Arizona 85721, USA.

 

Yi Fang Chu and Xianzona Wu (2002). Antioxidant and Antiprofilactive Activities of Common Vegetables. Journal of Agricultural and Food Chemistry. pp. 381-385.

 

1) Md. Wasim Aktar is a Senior Research Fellow in Export Testing Laboratory, APEDA, Govt. of India, under Deptt of Agricultural Chemicals, Bidhan Chandra Krishi Viswavidyalaya, Mohanpur, Nadia, West Bengal, India


2) Prof. Anjan Bhattacharyya is the Head,Deptt of Agricultural Chemicals, Bidhan Chandra Krishi Viswavidyalaya, Mohanpur, Nadia, West Bengal, India


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Mar

19

All About Pregnancy Problems-miscarriage

Posted By: admin on March 19, 2011 at 1:43 am

Miscarriage

This factsheet is for people who have had a miscarriage or for those who want to know more about them.

Each year in the UK, hundreds of thousands of women are affected by miscarriage. A miscarriage is when a pregnancy ends before 24 weeks. In the vast majority of cases, there is no way of preventing a miscarriage.

Having a miscarriage does not mean that you won’t be able to get pregnant again, and most women go on to have a successful pregnancy.

Causes of Miscarriage

The most common reasons include the following:

An abnormal fetus causes almost all miscarriages during the first three months of pregnancy (first trimester). Problems in the genes are responsible for an abnormal fetus and are found in more than half of miscarried fetuses. The risk of defective genes increases with the woman’s age, especially over if she is older than 35 years.

Researchers have long known that during times of stress, the brain releases several hormones — including one called corticotropin-releasing hormone (CRH). In past research, women who deliver prematurely or have low-birth-weight babies were often found to have high levels of CRH in their bloodstream, and other studies show a greater risk of miscarriage in women reporting stress. CRH is a hormone the brain secretes in reaction to physical or emotional stress, and it is also produced in the placenta and the uterus of a pregnant woman to trigger uterine contractions during delivery.

Fetal chromosomal abnormalities are the commonest cause of sporadic miscarriage affecting more than half of all early miscarriages. This may be due to abnormalities in the egg, sperm or both. The usual chromosomal pattern is 46 chromosomes which are arranged in 23 pairs, one of these pairs is called sex chromosomes, females will have two X chromosomes and males will have one X chromosome and a Y chromosome. The genes we all have are lined up along the chromosomes.

Trisomy: It is a type of chromosomal abnormality where there will be three chromosomes of one type rather than normal pair. This results in an embryo with 47 chromosomes instead of 46 and will either abort, or develop into a baby with congenital abnormalities. It is more common as reproductive age increases and the abnormalities are not very likely to recur.

Monosomy: In this type, you will notice missing of one chromosome. This condition is called Turner’s syndrome where pregnancies will carry on with only one X chromosome.

Premature Rupture of Membranes and Early Labor

Many miscarriages begin with cramping and labor-like symptoms, but true PROM and Early Labor are usually associated with babies that are in the second or third trimester. Early labor can often be treated with drugs that relax the uterus and women are placed on bed rest either at home or in the hospital.

Sometimes, however, the baby comes anyway. This is one of the most traumatic of losses, technically a stillbirth and not a miscarriage after 20 weeks, because you will hold and see your baby and beg him or her to breathe. For some women, the baby will even be born alive, but only live for a few minutes, hours or days. There really is nothing harder in life than this.

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Mar

18

Hypotonia ? Symptoms and Causes of Hypotonia

Posted By: admin on March 18, 2011 at 4:07 am

Hypotonia is a condition of abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful.

Hypotonia is a medical term used to describe decreased muscle tone (the amount of resistance to movement in a muscle). It is not the same as muscle weakness, although the two conditions can co-exist. Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders, such as Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes hypotonia.

An infant with hypotonia exhibits a floppy quality or “rag doll” feeling when he or she is held. Infants with this problem lag behind in acquiring certain fine and gross motor developmental milestones that enable a baby to hold his or her head up when placed on the stomach, balance themselves or get into a sitting position and remain seated without falling over.

Symptoms of Hypotonia

The most common symptoms of hypotonia involve problems with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes.

Infants who are hypotonic will let their elbows and knees hang loosely instead of flexed as normal. The infant may have poor or no head control.

The extent and occurrence of specific objective manifestations depends upon the age of the patient, the severity of the hypotonia, the specific muscles affected, and sometimes the underlying cause. For instance, some hypotonics may experience constipation, while others have no bowel problems.

Twitching may occur in the tongue and in affected limbs. The patient may experience muscle pain and muscle cramps. Some patients experience more difficulty swallowing saliva and liquids than solid food.

Since hypotonia is most often diagnosed during infancy, it is also known as “floppy infant syndrome” or “infantile hypotonia.” Infants who suffer from hypotonia are often described as feeling and appearing as though they are “rag dolls” or a “sack of jello,” easily slipping through one’s hands.

Causes of Hypotonia

Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders.

Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop.

Hypotonia can be caused by a variety of conditions including those that involve the central nervous system, muscle disorders and genetic disorders. Some common causes can include but are not limited to Down syndrome, Muscular dystrophy, Cerebral palsy, Prader-Willi Syndrome, Myotonic dystrophy, Marfan syndrome and Tay-Sachs disease.

A number of different genetic disorders are associated with hypotonia, and may affect the nerves (and by extension the muscles), or the muscles only. Most genetic conditions are generalized (affecting multiple muscle groups) and progressive. Some genetic conditions are hereditary.

Myasthenia gravis: a neuromuscular disorder characterized by variable weakness of voluntary muscles, which often improves with rest and worsens with activity. The condition is caused by an abnormal immune response.

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Mar

17

Anencephaly ? Causes of Anencephaly

Posted By: admin on March 17, 2011 at 6:52 am

Anencephaly is a congenital malformation that occurs in approximately one in one thousand pregnancies. Anencephaly is a neural tube defect, just as is spina bifida. Life expectancy for an anencephalic baby is just a few hours, sometimes a few days at most. As the malformation is usually detected during a pre-natal scan, parents are often confronted with a choice between life and death. A choice made with very little information of what is in store for them. It is with this in mind that we have made the choice to share the stories of the brief, but wonderful lifes of our anencephalic babies. I hope that it will be of help to you and impart courage.

Anencephaly is a malformation which is very easy to see on an ultrasound scan. If a qualified doctor has made an ultrasound scan diagnosis after the 16th week, the likelihood of a misdiagnosis is minimal. A positive maternal serum screening test, however, simply shows that there is a higher risk that the baby has Trisomy 21 or 18, or an neural tube defect. Most women who test positive give birth to healthy babies. Additional tests must be carried out to determine whether the baby is suffering from one of those ailments.

It is as common as spina bifida and in some areas it has been observed to be more common. The incidence ranges anywhere between one and six per 1000 deliveries.

For some unclear reason, there is a racial difference as well. Anencephaly is less common among the black community and people from south-east Asia, compared to Caucasians.

Like spina bifida, anencephaly affects girls more than boys.

Causes of Anencephaly

Once a child has been born with an ONTD in the family, the chance for an ONTD to happen again is increased to 4 percent to 10 percent. It is important to understand that the type of neural tube defect can differ the second time. For example, one child could be born with anencephaly, while the second child could have spina bifida.

The cause of anencephaly is unknown. Although it is thought that a mother’s diet and vitamin intake may play a role, scientists believe that many other factors are also involved.

Valproic acid, an anticonvulsant, and other antimetabolites of folic acid have been shown to increase the chance of an NTD when exposure occurs in early development. While these induced NTDs are usually spina bifida, the chance of anencephaly is probably increased as well.

Anencephaly and spina bifida are the most common ONTDs, while encephaloceles (where there is a protrusion of the brain or its coverings through the skull) are much rarer. Anencephaly occurs when the neural tube fails to close at the base of the skull, while spina bifida occurs when the neural tube fails to close somewhere along the spine.

Anencephaly and spina bifida are the most common ONTDs, while encephaloceles (where there is a protrusion of the brain or its coverings through the skull) are much rarer. Anencephaly occurs when the neural tube fails to close at the base of the skull, while spina bifida occurs when the neural tube fails to close somewhere along the spine.

Anencephaly is due to failure of the basic part of the brain to form during the first 24 days after conception.

More baby girls are affected than are boys and the incidence is higher in those geographical areas where spina bifida is more common. Some infants have spina bifida and anencephaly.

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Mar

16

Kim Edward’s “the Memory Keepers Daughter”

Posted By: admin on March 16, 2011 at 9:52 am

Sometimes you find a book that fits everything you’ve ever thought a book should be.

No one told me about “The Memory Keeper’s Daughter,” by Kim Edwards. But I knew I was about to undertake a grueling several days and I wanted a good book to escape to. So I walked into Borders, and strolled right to the book in question and bought it.

My days would be taken up with an Advanced Cardiac Life Support course coupled with oral and written tests, plus having to know things I already knew but needed to feel more confident about knowing, such as the recogniton of cardiac rhythms, knowledge of cardiac drugs in the event of sudden cardiac arrest, stroke or collapse.

The book immediately reveals the story line, most all of the characters, and pulls you in by the end of the very first chapter with poetically beautiful narrative.

Throughout the book, the author brings all five senses and mixes them with nature images and mind dreams to illustrate points, develop the character and story line.

The book begins with a young married couple deeply in love and nine months pregnant, going into labor in the middle of an unexpected and rare snowstorm in Kentucky.

The husband is an Orthopedic doctor. When his wife goes into labor, they arrange to meet the Obstetrician at the husband’s Orthopedic clinic. The Ob doctor crashes in the snow storm and the husband must deliver the baby.

His nurse is also present to assist in this momentous occasion.

The first chapter ends dramatically when the mother delivers not one but two babies. One is a healthy baby boy, the other is a girl with Down’s, or Trisomy 21.

The year is 1964.

This is a moment that changes the course of everyone’s lives; the doctor, his wife and nurse for the doctor decides the baby girl must go and live in an institution and he gives the baby to his nurse to take the baby there.

He tells his wife that the baby is dead.

The nurse cannot follow through with leaving the baby at the institution, so she leaves town with the baby and raises her.

All this in a few short pages.

Much has changed since 1964. Now we perform a marker test for Downs between 16 and 19 weeks. If the baby does have the marker, an amniocentesis is offered. If this is definitive for Downs, the parents have the choice to terminate the pregnancy.

Markers in early pregnancy have also been developed but most health insurance carriers will not pay for this expensive test.

If parents decide to keep the baby, they have time to prepare mentally, spiritually and psychologically for what is sure to be a challenge.

This book is about a secret that hangs like a thunder cloud, following these pivotal characters throughout the book.

Mom knows subliminally but does not know consciously.

Her husband becomes distant and unreachable from the time he tells his wife this lie throughout their entire marriage.

Demons, shadows, nightmares.

I spoke to a former head of Pediatrics who is now retired. He said years ago, when a Downs baby was born, the Pediatrician routinely counseled the family to give the child immediately over to an institution.

Usually the husband made this decision often over the wishes of the mother. My friend said this caused huge conflict in families, and many of these couples eventually divorced, at a time when divorce was not popular.

Conflict, angst, total sadness and great loss.

So our character in The Memory Keeper’s Daughter acted as others acted at the time and made a decision that was commonly made.

At this point, we could discuss such ethical issues as eugenics, abortion, and infanticide, but these are beyond the scope of this article.

As a Labor and Delivery nurse, I also serve on what is called the Bereavement Committee, serving those parents whose babies have died.

We have more than our share of pregnancy losses, premature babies who teeter on the edge between life and death, and yes, several Down’s babies are born every year, as well.

The main concern is whether a family has the resources to care for these beautiful and loving children.

Do they have the family support, dedication and committment?

Waldorf educational methods are tailor made to help special needs children.

Walforf education was developed by Rudolf Steiner in Europe in the 1920′s. There are currently more than 500 Waldorf schools worldwide, and Waldorf has been in North America for 75 years.

Waldorf is based on the view that the human being is a being of body, soul and spirit. The Waldorf approach to education attempts to bring together all elements of a child’s development: intellectual, artistic, and spiritual.

Its goal is to produce individuals who are able to function independently and create the meaning for their own lives themselves, and not have to rely on others to do this for them.

Waldorf educational methods are diametrically opposed to those that forms the basis for most public school systems.

Waldorf education is intended to preserve the integrity of the individual student; not to turn them into conformists. Waldorf educational methods are effective for all students but are particularly helpful in the case of special needs children.

Special needs children will have strengths in areas not developed in the standard public educational systems. Waldorf methods will address these strengths, and child will experience significant increases in self-esteem as a result of their success. Special needs children often have very limited experience in being successful in a school environment and respond rapidly and positively when they are given a chance to demonstrate their competence.

But the most profound benefit of using Waldorf educational methods to help special needs children is that they encourage the children to develop as independent, self-reliant individuals, able to function and meet life on their own terms, rather than passively looking to others for guidance.

This paves the way for a lifetime of successful self determination for the special needs child taught by Waldorf educational methods.

On the East Coast, Beaver Run and Spring Valley Waldorf Communities serve Special Needs People from youth to old age and death. What a wonderful alternative to an “Institution.”

This is an enlightened alternative to an otherwise bleak life of dependence.

The Memory Keeper’s Daughter was alive and wonderful. Read it if you haven’t already.

And In-Joy!!

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Kate Loving Shenk is a writer, healer, musician and the creator of the e-book called “Transform Your Nursing Career and Discover Your Calling and Destiny.” Click here to find out how to order the e-book:
http://www.nursingcareertransformation.com Check Out Kate’s Blog:
http://www.nursehealers.typepad.com

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www.livingwithtrisomy13.org Josiah and Natalia both have Full Trisomy 13- Patau Syndrome -Jan 2008 For more T13 stories and photos go to
Video Rating: 4 / 5

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Mar

15

Information About Genetic Diseases

Posted By: admin on March 15, 2011 at 12:54 pm

Genetic disorders or diseases are caused by mutations or abnormalities in genes. Genetic diseases are often heritable and can be occur due to a plethora of reasons, most of which are often unknown. Unfortunately we don’t know ways to stop genetic disorders before giving birth to a child. In this article, I will give you information about different genetic diseases.

Common Genetic Disorders

Down syndrome

Down syndrome, Down’s syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes.

Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.

Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF, an abnormal gene causes mucus to become thick and sticky. Other people have more mild disease that doesn’t show up until they are adolescents or young adults. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).

Haemophilia

Haemophilia is the name of some genetic disorders which mean the body’s inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).

Well, above are some of the most common genetic diseases. Most of the above diseases cannot be cured but research is still going on and one day it might be possible for humans to treat such deadly diseases.

To read more about Marfans Syndrome visit Marfans Syndrome Learn more about Sulfite Oxidase


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