Tag: Genetic disorder

Categories
Healthy Tips

Vitamin D May Treat or Prevent Allergy to Common Mold

Research has discovered that vitamin D may be an effective therapeutic agent to treat or prevent allergy to a common mold.

Research conducted by Dr. Jay Kolls, Professor and Chair of Genetics at LSU Health Sciences Center New Orleans, and colleagues, has found that vitamin D may be an effective therapeutic agent to treat or prevent allergy to a common mold that can complicate asthma and frequently affects patients with Cystic Fibrosis. The work is scheduled to be published online August 16, 2010, ahead of the print edition of the September 2010 issue of the Journal of Clinical Investigation.

Aspergillus fumigatus, is one of the most prevalent fungal organisms inhaled by people.  In asthmatics and in patients with Cystic Fibrosis, it can cause significant allergic symptoms.

According to Physorg:
“The researchers focused on Th2 cells — the hormonal messengers of T-helper cells that produce an allergic response … The researchers discovered that heightened Th2 reactivity … correlated with a lower average blood level of vitamin D.”

Resources:
Journal of Clinical Investigation August 16, 2010
Physorg August 16, 2010

Related articles by Zemanta
Enhanced by Zemanta
Categories
Ailmemts & Remedies Pediatric

Microcephaly

Definition:
Microcephaly (my-kroh-SEF-uh-lee) is a rare  neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.

click to see the pictures….>.….…(01).….(1).……..(2)..….…(3)..…….(4)....

Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth.

Microcephaly can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues. Generally there’s no treatment for microcephaly, but early intervention may help enhance your child’s development and improve quality of life.

Symptoms:
The primary sign of microcephaly is:

*A head size significantly smaller than that of other children of the same age and sex.

Head size is measured as the distance around the top of the child’s head (circumference). Using standardized growth charts, the measurement is compared with other children’s measurements in percentiles. Some children just have small heads, which may measure in the third, second or even first percentiles. In children with microcephaly, head size measures significantly below the first percentile.

These characteristics may accompany severe microcephaly:

*Backward sloping forehead
*Large ears
*Visual impairment


Depending on the severity of the accompanying syndrome, children with microcephaly may have:

*mental retardation,
*delayed motor functions and speech,
*facial distortions,
*dwarfism or short stature,
*hyperactivity,
*seizures,
*difficulties with coordination and balance, and
*other brain or neurological abnormalities.

Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.


Causes:
It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. :

Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy.

Microcephaly usually is the result of abnormal brain development, which can occur in the womb (congenital) or in infancy. Microcephaly may be genetic. Other causes may include:

*Craniosynostosis. The premature fusing of the joints (sutures) between the bony plates that form an infant’s skull keeps the brain from growing. Treating craniosynostosis usually means your infant needs surgery to separate the fused bones. If there’s no underlying brain abnormality, the surgery allows the brain adequate space to grow and develop.

*Chromosomal abnormalities. Down syndrome and other conditions may result in microcephaly.

*Decreased oxygen to the fetal brain (cerebral anoxia). Certain complications of pregnancy or delivery can impair oxygen delivery to the fetal brain.

*Infections of the fetus during pregnancy. These include toxoplasmosis, cytomegalovirus, German measles (rubella) and chickenpox (varicella).

*Exposure to drugs, alcohol or certain toxic chemicals in the womb. Any of these put your baby at risk of brain abnormalities.

*Severe malnutrition. Not getting adequate nutrition during pregnancy can affect your baby’s development.

*Uncontrolled phenylketonuria (fen-ul-kee-toe-NU-ree-uh), also known as PKU, in the mother. PKU is a birth defect that hampers the body’s ability to break down the amino acid phenylalanine.

Complecations & Risk Factoirs:
Some children with microcephaly will be of normal intelligence and development, even though their heads will always be small for their age and sex. But depending on the cause and severity of the microcephaly, complications may include:

*Developmental delays, such as in speech and movement
*Difficulties with coordination and balance
*Dwarfism or short stature
*Facial distortions
*Hyperactivity
*Mental retardation
*Seizures

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

Diagnosis:
To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. He or she will measure the circumference of your child’s head, compare it with a growth chart, and remeasure and plot the growth at subsequent visits. Parents’ head sizes also may be measured to determine whether small heads run in the family.

In some cases, particularly if your child’s development is delayed, your doctor may request tests such as a head CT or MRI and blood tests to help determine the underlying cause of the delay.

Treatment :
Generally, there’s no treatment that will enlarge your child’s head or reverse complications of microcephaly.  Early childhood intervention programs that include speech, physical and occupational therapy may help your child strengthen abilities.

Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

Certain complications of microcephaly, such as seizures or hyperactivity, may be treated with medication.

Prognosis:
Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

When you learn your child has microcephaly, you may experience a range of emotions, including anger, fear, worry, sorrow and guilt. You may not know what to expect, and you may worry about your child’s future. The best antidote for fear and worry is information and support. Prepare yourself:

*Find a team of trusted professionals. You’ll need to make important decisions about your child’s education and treatment. Seek a team of doctors, teachers and therapists you trust. These professionals can help evaluate the resources in your area and help explain state and federal programs for children with disabilities.

*Seek out other families who are dealing with the same issues. Your community may have support groups for parents of children with developmental disabilities. You may also find Internet support groups.

Prevention:
Learning your child has microcephaly may raise questions about future pregnancies. Work with your doctor to determine the cause of the microcephaly. If the cause is genetic, you and your spouse may want to talk to a genetic counselor about risks for future pregnancies.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.medicinenet.com/microcephaly/page2.htm
http://www.mayoclinic.com/health/microcephaly/DS01169
http://en.wikipedia.org/wiki/Microcephaly

Related articles
Enhanced by Zemanta
Categories
Ailmemts & Remedies Pediatric

Bubble Boy Disease

Other Names: Severe combined immunodeficiency (SCID), or Boy in the Bubble Syndrome, (also known as “Alymphocytosis,” “Glanzmann–Riniker syndrome,” “Severe mixed immunodeficiency syndrome,” and “Thymic alymphoplasia”


Definition:
It is a genetic disorder in which both “arms” (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the “bubble boy” disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment.

CLICK & SEE THE PICTURES

David Vetter poses inside of his bubble in his Houston home in this Dec. 17, 1976

The body’s immune system fights against diseases and infections. The SCID syndromes are inherited disorders that result in severe defects in the immune system. White blood cells (which fight infection) are produced in the bone marrow by stem cells. In people with SCID, the bone marrow stem cells are absent or defective. This leaves the affected person open to any and all germs around him because he has no way to fight them off.

Prevalence:-
The most commonly quoted figure for the prevalence of SCID is around 1 in 100,000 births, although this is regarded by some to be an underestimate of the true prevalence; and a figure of about 1 in 65,000 live births has been reported for Australia.

Recent studies indicate that one in every 2,500 children in the Navajo population inherit severe combined immunodeficiency. This condition is a significant cause of illness and death among Navajo children. Ongoing research reveals a similar genetic pattern among the related Apache people.

Types:-
1. X-linked severe combined immunodeficiency:–
Most cases of SCID are due to mutations in the gene encoding the common gamma chain (?c), a protein that is shared by the receptors for interleukins IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21. These interleukins and their receptors are involved in the development and differentiation of T and B cells. Because the common gamma chain is shared by many interleukin receptors, mutations that result in a non-functional common gamma chain cause widespread defects in interleukin signalling. The result is a near complete failure of the immune system to develop and function, with low or absent T cells and NK cells and non-functional B cells.
The common gamma chain is encoded by the gene IL-2 receptor gamma, or IL-2R?, which is located on the X-chromosome. Therefore, immunodeficiency caused by mutations in IL-2R? is known as X-linked severe combined immunodeficiency. The condition is inherited in an X-linked recessive pattern.


2.Adenosine deaminase deficiency:-
The second most common form of SCID after X-SCID is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. This metabolite will inhibit the activity of ribonucleotide reductase, the enzyme that reduces ribonucleotides to generate deoxyribonucleotides. The effectiveness of the immune system depends upon lymphocyte proliferation and hence dNTP synthesis. Without functional ribonucleotide reductase, lymphocyte proliferation is inhibited and the immune system is compromised.

3. Omenn syndrome:–
The manufacture of immunoglobulins requires recombinase enzymes derived from the recombination activating genes RAG-1 and RAG-2. These enzymes are involved in the first stage of V(D)J recombination, the process by which segments of a B cell or T cell’s DNA are rearranged to create a new T cell receptor or B cell receptor (and, in the B cell’s case, the template for antibodies).Certain mutations of the RAG-1 or RAG-2 genes prevent V(D)J recombination, causing SCID.

4.Bare lymphocyte syndrome:-
MHC class II is not expressed on the cell surface of all antigen presenting cells. Autosomal recessive. The MHC-II gene regulatory proteins are what is altered, not the MHC-II protein itself.

5.JAK3 :-  Janus kinase-3 (JAK3) is an enzyme that mediates transduction downstream of the ?c signal. Mutation of its gene also causes SCID.

6.Artemis/DCLRE1C:-
Mortan Cowan, MD, director of the Pediatric Bone Marrow Transplant Program at the University of California-San Francisco, noted that although researchers have identified about a dozen genes that cause SCID, the Navajo and Apache population has the most severe form of the disorder. This is due to the lack of a gene designated Artemis. Without the gene, children’s bodies are unable to repair DNA or develop disease-fighting cells.


Symptoms:
Chronic diarrhea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections. However, treatment options are much improved since David Vetter.


You may click to see :
The list of signs and symptoms mentioned in various sources for SCID includes the 35 symptoms listed below:

Causes:
Click to see :New Genetic Cause Of Boy In The Bubble Syndrome :

New gene mutation found to cause ‘bubble boy disease’ :

How Gene Defects Cause Disease :

Diagnosis:
Several US states are performing pilot studies to diagnose SCID in newborns through the use of T-cell recombinant excision circles.[citation needed] Wisconsin and Massachusetts (as of February 1, 2009) screen newborns for SCID.

Despite these pilot programs, standard testing for SCID is not currently available in newborns due to the diversity of the genetic defect. Some SCID can be detected by sequencing fetal DNA if a known history of the disease exists. Otherwise, SCID is not diagnosed until about six months of age, usually indicated by recurrent infections. The delay in detection is because newborns carry their mother’s antibodies for the first few weeks of life and SCID babies look normal.

You may click to see :Diagnostic Tests for SCID :

Treatment:-
The most common treatment for SCID is bone marrow transplantation, which has been successful using either a matched related or unrelated donor, or a half-matched donor, who would be either parent. The half-matched type of transplant is called haploidentical and was perfected by Memorial Sloan Kettering Cancer Center in New York and also Duke University Medical Center which currently does the highest number of these transplants of any center in the world. David Vetter, the original “bubble boy”, had one of the first transplantations but eventually died because of an unscreened virus, Epstein-Barr (tests were not available at the time), in his newly transplanted bone marrow from his sister. Today, transplants done in the first three months of life have a high success rate. Physicians have also had some success with in utero transplants done before the child is born and also by using cord blood which is rich in stem cells.

More recently gene therapy has been attempted as an alternative to the bone marrow transplant. Transduction of the missing gene to hematopoietic stem cells using viral vectors is being tested in ADA SCID and X-linked SCID. In 1990, 12-year-old Ashanthi DeSilva became the first patient to undergo successful gene therapy. Researchers collected samples of Ashanthi’s blood, isolated some of her white blood peripheral T cells, and incorporated into them a virus engineered to contain a healthy immune system enzyme: adenosine deaminase (ADA) gene. These cells were then injected back into her body. She is now given a weekly shot of ADA that without would have her destined for a life of isolation. In 2000, the first gene therapy “success” resulted in SCID patients with a functional immune system. These trials were stopped when it was discovered that two of ten patients in one trial had developed leukemia resulting from the insertion of the gene-carrying retrovirus near an oncogene. In 2007, four of the ten patients have developed leukemias [11]. Work is now focusing on correcting the gene without triggering an oncogene. No leukemia cases have yet been seen in trials of ADA-SCID, which does not involve the gamma c gene that may be oncogenic when expressed by a retrovirus.

Trial treatments of SCID have been gene therapy’s only success; since 1999, gene therapy has restored the immune systems of at least 17 children with two forms (ADA-SCID and X-SCID) of the disorder.

You may click to see :Drugs and Medications used to treat SCID:
A new hope for gene therapy

Breakthrough for “Bubble Boy” Disease

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency#cite_note-Bolognia-0
http://rarediseases.about.com/od/immunedisorders/a/scid.htm
http://www.wrongdiagnosis.com/s/scid/intro.htm

Related articles
Enhanced by Zemanta
Categories
Featured

Your Palm Says It All

[amazon_link asins=’0821602225,045107002X,B01GVVZVI2,162055108X,7805517681,3639266196,B00FFBAVCQ,B0008ALZR4,1848193505′ template=’ProductCarousel’ store=’finmeacur-20′ marketplace=’US’ link_id=’c35c4b80-0f77-11e7-aa1f-412673fbcbcf’]

[amazon_link asins=’B01GSHUYX6,B01E9J0CAA,B01M5AHXKA,B01LLXMB60,B00ZATDSLO,B01EDKW5Z0,B01D21K4F4′ template=’ProductCarousel’ store=’finmeacur-20′ marketplace=’US’ link_id=’9ca3452b-0f77-11e7-ab9d-c389aa1090bc’]

Rogue, fraud, charlatan. Words we often use to describe the roadside palmist. Can anyone say what the creases, lines and stars etched on our palms mean? Or if they do mean anything at all?
……….....CLICK & SEE
Some people, it seems, can say much about your life by “reading” your palm.

Welcome to the world of medical palmistry, a branch of science based on documented and proven scientific observations.

A detailed examination of the palm does provide valuable clues to a person’s medical history, lifestyle, diseases and life expectancy. Palms and fingers have characteristic creases, whorls, arches and loops. These are unique in each individual and never identical, even in twins. One of the oldest biometric methods of establishing positive identity is by using fingerprints.

“Palmar creases” form in an unborn baby as it holds its hands tightly clenched during the 12th week. Normally this forms three palmar creases or lines. Any physical, medical or drug-induced injury to the foetus during the first three months is reflected permanently as abnormal palmar creases. This can be picked up on ultrasound examination after the 12th week. If the creases are abnormal, the foetus should be closely monitored for associated abnormalities in the kidney, heart and other organ

Sometimes the upper two lines fuse to form a single palmar crease or simian line that stretches across the open palm. A single palmar crease can be present in one out of 30 apparently normal people. It is more common in males and is usually present only on one hand. One or both parents of these children may have the abnormal crease on one hand. This is a minor aberration and warrants monitoring as these children may reveal mild abnormalities in other organs in later life. It is also associated with certain chromosomal anomalies, the most common of which is Down’s Syndrome (Trisomy 21).

Not all abnormal palmar creases are hereditary or genetic. Alcoholic women who continue to drink during pregnancy can produce children with “foetal alcohol syndrome” and a single palmar crease.

People with mental illnesses have more open loops and fewer whorls on their finger tips. Those prone to chronic diseases like leprosy and tuberculosis also tend to have only two lines on the palm, with the abnormal line just above the thumb.

Normally, a person has 10 fingers and toes. In one in 1,000 births, there may be extra digits, separate, complete, incomplete or fused. These defects can be associated with other internal congenital malformations, and so a detailed examination must be done for any affected newborn.

Marfans syndrome is a genetic disorder in which the person has “arachnodactyly” or abnormally long fingers like spider legs. This can be diagnosed before birth through ultrasound.

Congenital hypothyroidism, certain renal diseases and some forms of dwarfism are linked with a “tripartiate” hand — where the index, middle and ring fingers are the same length.

Cigarette smokers, people suffering from chronic respiratory ailments, and those with congenital heart disease may have blue nails. Some lung diseases like bronchiectasis, and chronic intestinal diseases may bend the nail like a convex parrot beak, a condition called “clubbing”. Jaundice causes the skin of the palms to turn yellow. Carotenemia produces a similar appearance. It is a harmless condition and is caused by an excess consumption of yellow carotene containing fruits and vegetables.

Hormone levels in the uterus also influences finger length. A person (irrespective of sex) with the index finger shorter than the ring finger will have had more testosterone (male hormone) while in the womb, and a person with an index finger longer than the ring finger will have had more eostrogen (female hormone). Professional women, especially women scientists, tend to have higher levels of testosterone vis-a-vis their oestrogen level, making their brains closer to those of men in general. The converse is true with men working in the fine arts and social sciences.

The position in which we hold our palms is a reflection of the body mass index or BMI (weight in kilogram divided by height in metre squared). A BMI more than 30 is diagnostic of obesity. Such people tend to hold their hands with the thumbs facing backwards as they stand. Overweight people with a BMI between 25 and 30 hold their arms with the thumb facing sideways. People of normal weight with a BMI between 20 and 25 stand with their palms facing forwards.

So, remember, your palms will reveal a lot about your health, but only if you go to a medical palmist.

Source: The Telegraph (Kolkata, India)

Reblog this post [with Zemanta]
Related articles
Categories
Health & Fitness Healthy Tips

Your Gums May Save Your Life

[amazon_link asins=’B00ELM6WRI,B007579KPM,B00K1J73PK,B00LITWPQE,B01MUBCKFE,B000RU5JQS,B00006ANDK,B005E4A6KQ,B00C1Q00CO’ template=’ProductCarousel’ store=’finmeacur-20′ marketplace=’US’ link_id=’cfbb08b9-778b-11e7-b5dd-f9f81b3571bb’]


Stem cells now have an easy and superior source — gum tissue.As per latest lab report.

……………....CLICK  & SEE

The history of modern medicine has rarely witnessed anything as controversial as stem cell therapy. Exponents swear by its potential to change the face of treatment and alleviate suffering. Taking advantage of this, unscrupulous medicos across the world have used the therapy to make a quick buck. Their claims — which are, of course, unsubstantiated — have caused further damage, almost discrediting this treatment method that explores the possibility of introducing new cells into damaged tissues to cure a disease or an injury.

As the name suggests, stem cells are capable of growing into various types of cells found in the human body. They can help form bones, muscles and even heart and brain cells. Medical scientists hope they can offer an answer to many diseases that have been so far regarded as incurable.

An enormous amount of research is required to take the therapy to a standard where it can be put to use extensively. However, there is a problem — providing more and more researchers easy access to stem cells is a daunting task.

A team of Indian researchers has found a better source for at least one important type of stem cells. Scientists led by Mohan Wani at the National Centre for Cell Science (NCCS), Pune, have shown that mesenchymal stem cells (MSCs) — which have the potential to regenerate muscles, bones and even nerve cells — can be extracted from human gum tissue.

Stem cells are of different types. Some are pluripotent — that is, they can be grown into all types of cells found in the human body. Human embryos are a good source of pluripotent stem cells. Most of the ethical issues relating to stem cell research are in connection with these stem cells.

The MSCs, on the other hand, are multipotent — that is, they can grow into only certain types of cells. Scientists have shown in the lab that MSCs can be used to regenerate bones, cartilage and muscles, but this is yet to become a line of treatment.

Studies in the past have shown that MSCs are present in virtually all organs and tissues in the body. But they are normally harvested from bone marrow, the soft tissue inside the bones. One of the reasons, perhaps, is that the technique to extract bone marrow has been around for more than three decades. Bone marrow transplant has been a popular method of treating many blood disorders, including thalassaemia and certain blood cancers.

However, the process of extracting bone marrow cells is painful, particularly for the elderly. “Harvesting bone marrow from the iliac crest of the pelvic bone is a painful course. Moreover, you need to extract the tissue in a large quantity as the number of MSCs in it is low,” says Wani.

Gum tissue, on the other hand, not only contains more stem cells but also of a more homogenous type. Bone marrow contains more than one type of stem cell. Besides, the process of harvesting stem cells from gum tissue is easy and leaves no scar, says Wani.
…………………….
The NCCS work, which appeared in the latest issue of the journal Biochemical and Biophysical Research Communications , says that gum tissue can be a superior source of stem cells for several reasons. The yield of MSCs from bone marrow ranges from 0.001 to 0.01 per cent. In case of gum tissue, “we are expecting a four to six-fold increase,” says Wani.

The study looks interesting, says Maneesha Inamdar, a researcher at the Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, who works in the area of stem cells. Oral cells are more accessible and hence could be a better alternative to bone marrow, she observes.

Another expert from Christian Medical College, Vellore, however, is not so hopeful. “I do not anticipate people lining up to have their gingival (gum) tissue biopsied to produce these cells, nor do I see any dramatic impact of the use these cells in the clinic in the near future,” says the scientist, who prefers to remain anonymous.

There are other benefits of stem cells extracted from gum tissue, says Wani. The scientists, who grew many generations of the cells in the lab, found that they could hold their inherent properties for much longer than those derived from bone marrow. “These cells exhibited no abnormalities and are hence safe for clinical applications,” Wani told KnowHow.

As the next step, the Pune researchers plan to use to the stem cells derived from gum tissue to regenerate different types of human tissues.

So take care of your gums, for they will take care of you one day, if needed.

Massaging of Gum with a finger and rinsing the mouth at least two to three times daily after  eating, is the easiest way to keep the gum muscles strong &  healthy.

You may click to see:->Home Treatments for Gum Disease

Source : The Telegraph (Kolkata,India)

Reblog this post [with Zemanta]
Related articles
css.php