Genetics of Tay-Sachs Disease – Tay Sachs

Tay-Sachs disease is a very rare genetic disorder that destroys neurons in the nervous system (brain and spinal cord) causing severe mental and developmental retardation. The metabolic disorder caused by Tay-Sachs disease derives from the presence of too much of a fatty substance called ganglioside, which builds up in the nerve cells of the brain. This build up eventually destroys those cells, causing mental and physical problems.


Tay-Sachs is most common in Eastern European Ashkenazi Jews. According to the Center for Jewish Genetic Diseases, Tay-Sachs disease is the most well known Jewish genetic disease, potentially affecting one in every 2,500 Ashkenazi Jewish newborns. In the United States, its occurrence is very low. The disease appears in some Amish communities in Pennsylvania, and amongst the Cajun population of Louisiana and in French-Canadian communities of Quebec.

Genetics of Tay-Sachs Disease

Tay-Sachs disease is caused by a defect in a gene known as HEXA. The HEXA gene (isolated on chromosome 15) provides the code for making part of an enzyme called beta-hexosaminidase A. The enzyme is located in lysosomes, cellular structures that degrade toxic substances. Beta-hexosaminidase A breaks down a fat called GM2 ganglioside. But in people with Tay-Sachs disease the enzyme deficiency brought on by the genetic mutation leads to an accumulation of the GM2-ganglioside.

Tay-Sachs disease is an autosomal recessive genetic disorder. This means that each parent of an affected child is a carrier of one copy of the mutated gene, although they do not exhibit any signs or symptoms. If both parents are carriers of the mutated gene there is 25% chance in each pregnancy that the child will have Tay-Sachs disease.

Signs and Symptoms of Tay-Sachs Disease

Symptoms may appear in childhood; this is the most common form. Development starts normally, but an early sign of the disease, at about three to six months, is the appearance of a cherry-red spot in the child

Best Medical Coding and Billing Online Courses – Billing Online

How can you find and know what are the best medical coding and billing online courses? Not all of them are offering you all types of accreditation. You should first see if they offer specialized or just general courses and you should choose the one that is providing the type of knowledge and specialization you aim for.

You should see how flexible are with deadlines and compare with your own time frame. Some schools have a tide schedule that you might not be able to meet. On the other hand, with a tide schedule you will finish it faster.

To choose the best medical coding and billing online courses you should always look for details. Some of them are nationally accredited; some of them are regional accredited. The number of programs is different in number and types of specializations they offer. Take a look or ask for a full program. Also you should ask for all costs involved. If there are applications fees or not, if any additional books will make you spend some extra money, if the final exam costs are included or if you can get any financial aid and what would be the terms.

Also you should look at what types of degrees they offer – Associate’s, Bachelor’s or Certificates. The best medical coding and courses are offering also Master’s or even MBA, very useful if you want to turn this type of job in a business opportunity. Not all of them are offering all types of degrees. Or at least you should look for the course that is providing the degrees you need for depending on how committed or not you are for a career. Don’t forget to check if you can get the final degrees via internet or not.

When you are looking for the best medical coding and billing online courses don’t hesitate to search for reviews, ratings, opinions or even get in touch with people who attended one course or another. Sometimes, the official information you get on a website might not perfectly match with real life.

Learn Your Reproductive Risks on Sept. 21st – Genetic Disease

Austin, Texas (PRWEB) September 09, 2014

Couples planning a family can give their children a good start with preconception genetic testing. Texas Fertility Center is partnering with Good Start Genetics to offer Austin and the surrounding communities easy access to life changing genetic information. The genetic screening day takes place Sept. 21 from 2:30 to 6 p.m., and is open to women ages 18-40 and their partners. Reservations are required for the event that will be held at the Jewish Community Center of Austin at 7300 Hart Lane.

TFC fertility specialists recommend genetic screening for all women of reproductive age, and stress the importance of preventative care for anyone at risk for inheritable genetic disease.

Thanks to public awareness campaigns like this one, genetic testing has led to a 90 percent reduction in the occurrence of Tay Sachs disease among the Jewish community in the United States. Tay Sachs causes weakness, blindness, seizures and death in children. Unfortunately, no cure exists for this disease.

Genetic Testing Results Alert Unsuspecting, Symptomless Carriers.

Most carriers do not have a family history of the disease, and do not have any symptoms or warning signs. For many couples, the first indication occurs when their babies are diagnosed.

“Some genetic diseases, such as cystic fibrosis and spinal muscular atrophy, occur regardless of ethnicity or family history,” added Dr. Kaylen Silverberg, Medical Director of the Texas Fertility Center (TFC). “In fact, 1 in 16 individuals carry a genetic mutation for one of these disorders.”

Advanced Reproductive Technology Protects Children from Genetic Disease

When two carriers of a conceive a child, their offspring have a 1 in 4 chance of developing the active form of the disease. A fertility treatment option called preimplantation genetic diagnosis, or PGD, allows embryos to be analyzed with trophectoderm biopsy and genetic testing prior to their transfer into the woman’s uterus during an In Vitro Fertilization cycle.

“PGD enabled Robert Janca and Monti Pal to conceive a baby without the threat of inheritable genetic disease that runs in Monti’s family,” says Monti’s TFC fertility specialist Lisa Hansard, MD. “Without PGD, Monti had a 50-50 chance of having a baby with the genetic disease Hyper IGM syndrome.”

Reserve a Spot at Genetic Testing Day

If you are interested in testing, you can request a registration form at . Although space is limited at the Sept. 21 Genetic Screening Day, Texas Fertility Center offers the option for genetic testing services to all of its patients.

About Texas Fertility Center

Texas Fertility Center (TFC), one of the nation’s leading full-service infertility practices, provides advanced Infertility and Reproductive Endocrinology services to patients throughout Texas, the Southwestern United States, and the Americas. Since 1980, TFC has been recognized nationally for outstanding pregnancy rates, cutting-edge laboratory procedures, and innovative research programs. For more information, please visit

About Good Start Genetics

Good Start Genetics is a leading and innovative molecular diagnostics company setting the new standard of care for genetic screening of inherited diseases. Good Start uses a powerful technology called next-generation sequencing. By using this advanced technology, Good Start Select has been shown to detect more mutations than other routine carrier screening tests – See more at

Little Remedies – Brands Holdings

TARRYTOWN, N.Y.–()–The Little Remedies® children’s medicine brand has partnered with

actresses and <a rel="wpi" target="_blank" title="Famous friends: 25 Celebrity moms & their surprising BFFs …" href="">celebrity moms</a> Tia Mowry-Hardrict and Tamera Mowry-Housley

to launch the “Say Yes to Less” campaign to benefit Make-A-Wish®.

Beginning October 17, Little Remedies® will encourage consumers to log

on to

and take a pledge to “Say Yes to Less” of the things their children

don’t need to live happy and healthy lives. Families can pledge that

they will do things such as eat less sugar or create less waste. In

return, Little Remedies® will donate $1 to Make-A-Wish® for the first

100,000 people who take the pledge to “Say Yes to Less.”

“We’re huge fans of Little Remedies® and we both use the products with

our own kids, so we’re thrilled to be working with the brand on the ‘Say

Yes to Less’ campaign,” said Mowry-Hardrict. “Taking a more wholesome

approach to raising our kids is something we feel passionate about, so

we’re excited to ask other parents to join us, and to see how families

across the country will ‘Say Yes to Less,’” said Mowry-Housley.

As the official spokespersons for the pledge, Tia and Tamera will appear

in a series of videos featuring families who personify the Little

Remedies® philosophy, “Everything They Need, Nothing They Don’t,” by

casting away doubt, fear, negativity and wastefulness from their lives.

Their stories will inspire parents everywhere, as the families discuss

how they were able to conquer the obstacles that were getting in the way

of their health and happiness.

The Little Remedies® brand was created by a father and pharmacist who

grew tired of searching for products for his children that were

effective, but also made with ingredients he could feel good about. The

brand provides parents with effective products to support the wellness

of their child. The products range from natural remedies, to

medicine-based items that feature only the necessary ingredients—that

means no artificial flavors, artificial colors, alcohol, saccharin or


“Make-A-Wish® helps make life better for children with life-threatening

medical conditions,” said David Williams, president and chief executive

officer, Make-A-Wish® America. “Through our alliance with

Little Remedies®, we hope to inspire families everywhere to ‘say yes to

less’ of the things their children don’t need and focus on small things

they can do to make their lives better.”

Little Remedies® will submit a $1 donation to Make-A-Wish® for each of

the first 100,000 consumers who take the “Say Yes to Less” pledge.

Consumers will then have the option to continue their commitment for up

to 30-days by coming back to

to “check in” and confirm that they are following through with their

pledge. After a key number of check-ins, consumers will be rewarded for

their efforts with badges that are seen on their pledge page, and they

will receive coupons for Little Remedies® products.



For more information on Little Remedies® and the full line of products,

visit .

Little Remedies® is a brand of Prestige Brands Holdings, Inc.

(NYSE-PBH), which markets and distributes brand name over-the-counter

and household products throughout the U.S., Canada, and certain

international markets.

About Prestige Brands Holdings, Inc.

The Company markets and distributes brand name over-the-counter and

household products throughout the U.S., Canada, and certain

international markets. Core brands include Chloraseptic® sore throat

treatments, Clear Eyes® eye care products, Compound W® wart treatments,

The Doctor’s® NightGuard® dental protector, The Little Remedies® and

PediaCare® lines of pediatric over-the-counter products, Efferdent®

denture , Luden’s® throat drops, Dramamine® motion sickness

treatment, Debrox® ear wax remover, Beano® digestive aid, Gaviscon®

antacid in Canada, and BC® and Goody’s® headache powders.

About Make-A-Wish®

Make-A-Wish® grants the wishes of children with life-threatening medical

conditions to enrich the human experience with hope, strength and joy.

According to a 2011 U.S. study of wish impact, most health professionals

surveyed believe a wish-come-true can have positive impacts on the

health of children. Kids say wishes give them renewed strength to fight

their illnesses, and their parents say these experiences help strengthen

the entire family. Based in Phoenix, Make-A-Wish® is one of the world’s

leading children’s charities, serving children in every community in the

United States and its territories. With the help of generous donors and

more than 25,000 volunteers, Make-A-Wish® grants a wish somewhere in the

country every 38 minutes. It has granted more than 226,000 wishes since

its inception in 1980; nearly 14,000 in 2012 alone. Visit Make-A-Wish®

at to learn more.

An Ounce Of Prevention Is Worth A Pound Of Cure. – Stress Stimulants

Hair Loss can make a person lose confidence and even self esteem in some cases. It can also result in a good amount of stress and anxiety. Hair on the scalp is very important for good looks. It provides an aura to one

Get Clearer Skin Through Proper Acne Treatment – Daily Regimen

Acne can be an expensive problem to have, especially if you are in the habit of buying products that don’t seem to work.

The primary reason acne is so expensive is negligence. When you have acne, there is no short cut solution to your problem. It requires discipline and strict adherence to the guidance.

Acne treatment products will not work if you do not us them on a regular basis. If you only use them sporadically, you will not seem consistent results.

Getting clearer skin can be hard work. But putting in that effort will only benefit you in the long run. The job is simple enough to understand, but actually adhering to a daily regimen can be repetitive and inconvienient.

Consult your doctor to get a professional opinion on which products you should use. After you have made your purchase, you need to remember that you will now have to follow the directions carefully.

Don’t fool yourself into believing that all it takes is a one use. Be diligent and persistent. Use the products accordingly and you will see the desired results.

Using make-up will not solve your . It might cover it up, but remember that make-up also blocks your pores.

That is acne’s number one breeding ground.

Make-up can further prolong your acne problem and even disrupt your daily regimen by making it even more convenient. You may think that you have found a solution but it will only have adverse effects in the future.

The other thing to consider when dedicating yourself to clearer skin is your daily diet. You might need to stop consuming foods that stimulate hormonal reactions and subsequent breakouts.

This means you must sacrifice certain things you enjoy in order to get clear skin. This may seem tough to do, but it is doable.

For individuals who make that change, their battle with acne only becomes easier. And the improvements really are remarkable.

Drinking plenty of water is also a necessary change in your diet. You also try to drink eight glasses each day. If you drink a lot of soda, you should replace it with water.

Doing this all in gradual steps will help eliminate your acne problem. If you create an acne regimen that consists of manageable steps, you will slowly get closer to that clear complexion you dream about.

Kirsten Hawkins is a freelance writer specializing in skin conditions such as acne and rosacea. Visit for more information on acne and acne treatments.

Breast implants and autoimmune disease. – Antinuclear Antibodies

A new study strengthens the link between silicone gel breast implants and autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and a skin-hardening disorder known as scleroderma.

Scientists led by Eng M. Tan of Scripps Research Institute in La Jolla, Calif., have found so-called antinuclear antibodies in the blood of 23 women who developed after receiving breast implants made of silicone gel. Tan and his colleagues report in the Nov. 28 Lancet that those women with the highest levels of such antibodies had the worst symptoms. Moreover, women whose implants had ruptured or leaked silicone experienced symptoms more than five years sooner than women whose implants had remained intact, they say.

Physicians currently use elevated levels of specific — so named because they attack proteins within cell nuclei — to diagnose various autoimmune disorders. Tan and his colleagues suggest that exposure to silicone can cause autoimmune diseases. However, they caution that their data do not allow them to rule out the possibility that such exposure simply hastens the onset of symptoms among women already developing an autoimmune disease.

Is There an Increased Risk of Birth Defects From Paternal Exposure to Chemotherapy? – Future Offspring

Chemotherapy and Fertility

The search for better cancer treatment has produced whichsignificantly increase survival among certain cancerpatients. Over 70% of patients now survive childhood cancerand this percentage is still improving.</p>

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Infertility can be a side-effect of chemotherapy, but many patients regaintheir fertility after treatment. There are concerns that therapy may induce germ-line mutations that increase therisks of birth defects in future offspring. Commonly used doses of chemotherapy drugsare in the range known to be mutagenic in experimental animals and several chemotherapies induce chromosomalabnormalities in the sperm of treated patients.

Storage of sperm prior to treatment is an option for many patients, but it must be done before any chemotherapy has been received. Even sperm harvested immediately after the start of therapy could have DNA damage, and hence affect the health of future offspring.

Human Studies on Congenital Defects and Chemotherapy

Human studies evaluating birth defects from paternal exposure to chemotherapy have found littleevidence of increased chromosomal abnormalities or genetic diseases. Althoughthese findings are reassuring, some researchers working in this field think the data haslimitations:

  • The studies include patients who received both mutagenicand nonmutagenic agents with broad differences in drug regimens,doses and exposure time.
  • These studies involved small numbers ofchildren born to cancer survivors and the criteria measured were not always the same.
  • Most parents involvedwere treated as children and therefore became fathers a long time after treatment. This data is unlikely to be reflective of patients treated as young adults who have offspring shortly after they have recovered from chemotherapy .

These variables have made it difficult to calculate reliable risks for survivorstreated with specific chemotherapy drugs.

Animal Studies

  • Rodent experiments assessing from paternal exposure to chemotherapy suggest that the link is complex.
  • Direct measurements of chromosomal abnormalities in the sperm ofmice have shown that some agents are more damaging to sperm cells than others. This is also affected by the dose.
  • The risk of producingchromosomally defective sperm is highest in the first fewweeks after chemotherapy. This risk appears to decrease with time.

Other Causes of DNA damage

The extentto which paternal exposures to chemotherapy drugs contribute to human infertilityand pregnancy loss is unknown. What is well-established however is the risk from occupational exposure to toxic substances. Epidemiological data showthat occupations involving exposure to metals, combustion products,solvents or pesticides (e.g.welder, painter, mechanic,firefighter) are linked to increased maleinfertility and adverse reproductive outcomes.


Relative susceptibilities of male germ cells to genetic defects induced by cancer chemotherapies. A.Wyrobek A, T.Schmid, F.Marchetti Journal of the National Cancer Institute, 2005 Vol 34 P31-5.

Advances in male-mediated developmental toxicity. Edited by B.Robaire & B.Hales. Advances in Experimental Medicine and Biology 2003, Vol 518, P1–300.