birth defects

New genetic cause of male reproductive birth defects revealed

birth-defects

Researchers have defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys.

Lead author Dr. Dolores Lamb, director of the Center for Reproductive Medicine at Baylor, professor and vice chair for research of urology and molecular and cellular biology at Baylor, asid cryptorchidism and hypospadias are among the most common birth defects but the causes are usually unknown.

Cryptorchidism is characterized by the failure of descent of one or both testes into the scrotum during fetal development. In the adult man, the testes produce sperm and the male hormone, testosterone. Hypospadias is the abnormal placement of the opening of the urethra on the penis.

Both birth defects are usually surgically repaired during infancy.

Lamb and colleagues used a method of genome wide screening (essentially a molecular karyotype) called array comparative genomic hybridization to study children with these defects. The method looks specifically at changes in chromosomal regions that have undergone duplication or deletions too small to see under a microscope, termed copy number variations.

These genomic changes can alter gene dosage (gene gains or losses) resulting in a change in cell function.

In its analysis, the team showed that the cause of these birth defects in a subset of children with these defects of testis and penile development resulted from a change in the number of copies of a gene, VAMP7.

The role of VAMP7 gene duplication in causing these male birth defects was important because of the type of protein family it belongs to – it is a SNARE (Soluble N-ethylmaleimide-sensitive factor activating protein receptor) protein (a large protein superfamily consisting of more than 60 members in yeast and mammalian cell), Lamb said.

The report has been published in the journal Nature Medicine.

Source: yahoo news

Take folic acid before pregnancy to prevent birth defects

Folic Acid is An Important Vitamin

Folic acid is a vitamin found in many foods and multivitamin supplements. It’s especially important for women who could become pregnant because folic acid can help prevent birth defects.

Begin Each Day with Folic Acid

There are three ways women can get enough folic acid. They can choose to:

Take a vitamin supplement containing 400 micrograms of folic acid daily, or
Eat a fortified breakfast cereal daily which contains 100% of the recommended daily anount of folic acid (400 micrograms).
In addition, increase consumption of foods fortified with folic acid (e.g., “enriched” cereal, bread, rice, pasta and other grain products) in addition to consuming food folate from a varied diet (e.g., orange juice and green vegetables).
Folic Acid is Good for All Ages

No matter what your age, foods rich in folic acid are good for you.

Even young girls should try to get enough folic acid every day. That way, when you’re older and planning to become a mother, folic acid will already be a part of your diet.

Folic Acid Can Help Prevent Birth Defects

All women need folic acid because it works best for you and your baby early in the first month of pregnancy, a time when you may not even know you’re pregnant. Continued use of folic acid after the first month of pregnancy, and throughout your life, ensures the future good health of you and your family.

Folic acid can reduce certain birth defects of the brain and spinal cord by more than 70 percent. These birth defects are called neural tube defects (NTDs). NTDs happen when the spinal cord fails to close properly.

The most common neural tube defect is spina bifida. This occurs when part of the baby’s spinal cord remains outside the body. The baby may have paralyzed legs and, later, may develop bladder and bowel control problems. The most serious neural tube defect is anencephaly. The baby is born without part of its skull and brain, and eventually dies.

Folic acid also may help lower your chances of getting heart disease and some types of cancers. It may help protect you from having a stroke, as well.

Who Needs Extra Folic Acid?

All women need folic acid, especially women who have had babies with NTDs and want to become pregnant again. If you have had a baby with an NTD, talk with your doctor before planning your next pregnancy. He or she may prescribe a vitamin that contains a higher dose (4 mg) of folic acid.

Getting Folic Acid from Vitamins

Taking a daily multivitamin that has 0.4 mg of folic acid is another way of getting the recommended amount.

However, avoid taking more than one multivitamin per day. Too much of the other vitamins, especially vitamin A, could cause serious health problems.

Don’t be Confused by Labels

Read food and vitamin labels carefully to be sure you’re getting enough folic acid. On the labels, folic acid is also called “folate.” The amount of folic acid or folate in a vitamin or food may be given as either 400 micrograms or 0.4 mg. They are the same amounts.

Foods With Folic Acid

  • Enriched Breads and Grains
  • Fortified Cereals
  • Fruits and Vegetables
  • Beans and Peas
  • Protein Foods

Source: health.ny

 

Camp Lejeune water contamination linked to birth defects

Water pollution at the Camp Lejeune military base in North Carolina has been linked to increased risk of birth defects and childhood cancers, according to the U.S. Centers for Disease Control and Prevention.

A study released by the CDC’s Agency for Toxic Substance & Disease Registry on Thursday confirmed a long-suspected link between chemical contaminants in tap water at the Marine Corps base and serious birth defects such as spina bifida

It also showed a slightly elevated risk of childhood cancers including leukemia.

Dr. Vikas Kapil, a medical officer and acting deputy director of the CDC agency that produced the study, said it surveyed the parents of 12,598 children born at Lejeune between 1968 and 1985, the year most contaminated drinking water wells at Camp Lejeune were closed.

From that same group of participants, 106 cases of birth defects and childhood cancers were reported. But Kapil said researchers could only confirm the diagnoses in 52 cases.

Computerized birth certificates first became available in 1968. The study’s authors said they could not prove exposure to the chemicals caused specific individuals to become ill.

The CDC has linked the contamination to a number of sources including leaking underground storage tanks, industrial spills, and an off-base dry cleaning firm.

Lejeune spokeswoman Captain Maureen Krebs said the Marine Corps has supported scientific and public health organizations studying the health impacts of the contamination.

“These results provide additional information in support of ongoing efforts to provide comprehensive science-based answers to the health questions that have been raised,” Krebs said in a statement.

“The Marine Corps continues to support these initiatives and we are working diligently to identify and notify individuals who, in the past, may have been exposed to the chemicals in drinking water.”

The Veterans Administration has already been providing disability compensation claims to the affected families and personnel exposed to the contaminated water.

Source: Reuters

4 birth defects that could affect your oral health

It is likely that you have seen kids with a cleft in the lip sometimes continuing into the palate (or roof of your mouth) or tooth/teeth missing from birth. Well, these are what are called congenital anomalies or birth defects. In this post, we see how such defects often lead to oral health problems. Treatment in such cases is complex and involves multiple specialities in dentistry.

Congenital defect #1: Cleft lip and/or palate

Cleft lip and/or palate are the most common birth defects of the mouth. Cleft lip occurs when the two structures or processes that make up the lip do not fuse completely before birth. When the two developmental plates of the skull that form the roof of the mouth (hard palate) fail to join completely cleft palate is formed. Clefts lead to a gap or opening in the lip and palate. In cleft palate there is a direct connection between the mouth and the nose.

What problems can this cause?

Cleft lip and cleft palate can cause problems with sucking, swallowing, speech and socialization.

There could be a risk of aspiration (food going from the mouth to the nose and/or respiratory tract).

Teeth may be missing, deformed or displaced. This could cause adjoining teeth to move into the space causing improper bite, irregular gaps between teeth and difficulty in chewing etc.

Soft tissue folds and irregularities in the palate or roof of the mouth can increase the risk of gum disease.

 

Congenital defect #2: Congenital absence of teeth or anodontia.

This is a condition is which some or all of the teeth are missing by birth.

What problems can this cause?

Partially missing teeth can create huge gaps into which opposite and adjacent teeth move. This causes improper bite which can lead to excessive teeth wear, injury to the supporting structures (periodontium) of the teeth and loss of bone around the teeth. Misaligned teeth can also make it harder to clean them thereby causing decay and gum disease.

Congenital defect #3: Tongue tie or Ankyloglossia.

Here the tongue is literally ‘stuck’ or ‘tied’ to the floor of the mouth.

What problems can this cause?

Ankyloglossia can cause swallowing and speech difficulty.It may also make maintaining oral hygiene difficult giving rise to gum disease, cavities etc.

Congenital defect #4: Congenital enamel hypoplasia or Amelogenesis Imperfecta

Amelogenesis imperfecta is a genetic disorder in which there is underdevelopment of tooth enamel causing it to be unusually thin, discoloured, pitted and fragile. Rarely, it may be associated with abnormally enlarged gums which make oral hygiene difficult.

What problems can this cause?

This condition causes teeth to be prone to rapid wear and breakage. Thin enamel increases the sensitivity of the teeth to temperature changes. There is increased risk for teeth decay. When associated with gum enlargement, it can cause bad breath as well as discomfort when chewing or talking.

Source: News India