Perednik Healthy Life Info

Jakarta, When was born 13 years ago, Danielle Griffin is a very normal baby and the parents are elated because it tends to like girls. Daniella’s body began to show signs of age is not normal when coming three years.

Since then, Daniella body never grew tall. Hampered its development and he was trapped into a tiny human being because of pseudoachondroplasia result of gene mutation.

Danielle has a body that is smaller than 7-year-old sister. It has a 76.2 cm height for life. Pseudoachondroplasia disease makes her body can not grow high.

As quoted from TVthrong.co.uk, Monday (17/05/2010) doctors have been trying to make hormones and stretch his legs so he can have a normal body, but all efforts are in vain.

In the course of his life Danielle, has undergone various treatments that are sometimes brutal and hurt him. Yet she remains upbeat and optimistic, although many people who ridicule his condition.

Cases such as Daniella, many found all around us. Tiny human beings that exists around us is generally caused by patient pseudoachondroplasia gene abnormalities.

Pseudoachondroplasia disease is a severe genetic disorder and is characterized by disproportionately short body, the joints are super flexible, normal head size and body length of normal at birth. Someone with this condition are usually not diagnosed until the age of childhood.

This disorder was first described by Maroteaux and Lamy Dra in 1959 and is one of the 200 cases of a rare skeletal dysplasia. Dysplasia is a group of disorders due to problems with bone growth and formation.

Individuals with this disorder has the growth parameters (height and weight) of normal at birth, but not until the second year of life usually begin to experience growth delays.

During this phase, the body proportions are similar to individuals who have the disorder achondroplasia. Because of this similarity it is called with pseudoachondroplasia.

As quoted from Healthline, pseudoachondroplasia caused by mutations or changes in Cartilage oligomeric matrix protein 3 gene (COMP) located on the short arm of chromosome 19. This gene contains the instructions that tell the body how to form.

Seharusnya bases in these genes are arranged in a particular order that instructs the cell to form proteins. But because there is no mutation, the DNA sequence is a sequence and do not give a wrong code.

COMP gene mutations in autosomal dominant inherited. Every person has two genes COMP, which is derived from one father and one derived from the mother.

In autosomal dominant disorders, only a single gene mutation. Most individuals with pseudoachondroplasia born from parents with an average height. A 50 percent psuedoachondroplasia have the opportunity to lower the mutation of this gene to offspring.

This condition can cause complications such as arthritis, disorders caused by the weight on your joints and other orthopedic complications, such as increasing the risk of osteoarthritis at an early age (usually age-twenties) and low risk of neurological problems caused by spinal cord compression because of the weakness of the joints and abnormal spine structure .

Most people with pseudoachondroplasia hiding from the environment and limit their activities because not many public places that can match the size of his body.

Some people think that pseudoachondroplasia limited ability, whereas children or adults who have normal IQs level.

Pseudoachondroplasia experienced individuals with long bone shortening, so the average height of adults with this condition is approximately 80-130 cm. However, this individual has the features of a normal face and head.

To diagnose the necessary combination of physical examination, X-ray and molecular testing. Because the X-ray, the doctor can see some changes in the bone. While molecular testing (DNA) to search for gene mutations in COMP.

Until now there is no treatment for pseudoachondroplasia, treatment generally is to prevent osteoporosis, regulating body weight to burden not excessive and social adaptation.

Every disease should be cured. But not everyone is lucky enough to get the right treatment for the disease difficult to detect until the patient must undergo a critical care or died.

Many cases of a rare disease that has not been detected but was complicated by other illnesses. So many victims of a rare disease who died in vain because it can not be detected.

“Most of the rare diseases causing chronic varied. If you can not cure the condition will lead to deteriorating health,” said Carol Dezateux, Institute of Child Health, University College London, as quoted from the TimesOnline, Tuesday (16/3/2010).

This rare disease sometimes have symptoms like other common diseases such as nausea and weakness. But if common diseases can be treated is not the case with rare diseases. Because of the difficulty of detection, a rare disease will be fatal for the patient.

As examples of a rare disease who experienced Katy Frost (14 years) is nearly dying and needs to get a breath of surprise to wake him because of he loss of appetite.

Initially, Katy was a summer vacation with friends in the year 2005 went to a place called the Isle of Wight. It was so bad and going fast. On the first night of vacation, Katy became not eat. On the second day he ate little and became very sleepy. Katy slowly losing consciousness when he was taken to hospital by ambulance.

Emergency treatment carried out at Southampton General Hospital. Doctors still wondering what happened diseases if dehydration, infection or meningitis attack. Doctors at the hospital was finally call the experts at Great Ormond Street Hospital for fear of organ failure occurred in Katy body.

“Officers tried to find out what happened to Katy that may be related to problems that had ever happened in the past. But the whole time he’s getting looks worse and worse,” said his mother Cora Durkan.

Katy had a dying condition and should undergo cardiac shock and lisrik in 14 other places to protect the brain. Katy’s body must be equipped with a small pump equipment containing drugs so that stable blood pressure and heart better.

Fortunately Katy survived after being diagnosed MCADD (Medium Chain Acyl CoA dehydrogenase deficiency / em-cad). This disease can pose a risk of complications such as seizures, difficulty breathing, coma to sudden death.

Sir Liam Donaldson, the Chief Medical Officer in the UK tells us what is experienced by Katy MCADD which could prove fatal. These conditions make it vulnerable to disease and various symptoms such as nausea, drowsiness and asthma.

The disease occurs because the enzyme the body does not work perfectly. When in the process of eating, the body should break down stored fat to produce energy. But the problem is happening in your body it lacks Katy is one of the enzymes needed to do so.

Therefore he does not get energy from fat and body rely on glucose. When the body does not eat regularly sleep came. While fat deposits that can not be processed eventually become toxic and cause nausea, diarrhea.

Control is to monitor the diet and regularly consume glucose when you’re sick. If not diagnosed, can make patients MCADD coma to sudden death.

Katy cases only a few of the examples of rare diseases that initially seem trivial but can be fatal berakiba. Katy including 1 from 3 million UK residents who suffer from rare diseases.

According to Sir Liam, at least there are 6000 rare diseases in less than 5 years which hit 10,000 people in the UK. This figure is more and more when calculated globally. Generally this rare disease attacking the nervous, metabolic disorders, cancer, muscle disease and heart defects.

Nearly half of those who have a rare disease difficult to get the right diagnosis. And the problem will come when these rare diseases has led to serious complications and threatening the lives of sufferers.

European Organization for Rare Diseases found that more than a third of cases of Duchenne muscular dystrophy diagnosis initially got an error. For the case of Fragile X syndrome is almost as much as 40 percent of diagnoses. This syndrome causes brain damage, which causes mental retardation and other rare diseases.

Therefore, according to Sir Liam, medical progress is needed in order to diagnose a variety of rare diseases quickly. So that patients can avoid the risk of complications or death in vain because they have not had time to be saved.

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During this implant or planting or transplant lips to look full and no wrinkles using silicone or collagen. Now the experts use the neck muscle tissue that makes the lips more natural shape.

These lip implants using transplantation of muscle and connective tissue from the patient’s neck. By using the patient’s own sternocleidomastoid muscle in the neck and along the side of the connective tissue (fasica) muscles surrounding it.

Lip implant neck muscles of patients is preferable because it does not need to add material on the lips to look full. Implant lips with this neck muscles can last for 2 years.

The study involved 25 patients who underwent enlargement of the lips by using their own sternocleidomastoid. The results of this study will appear in the Archives of Facial Plastic Surgery March April issue.

After ditindaklajuti for two years, researchers found an increase in the number of Vermillion (pink tissue) an average of 20-24 percent on the upper lip. As for the lower lip was also an increase in Vermillion for 0,9-0,99 millimeters.

“In this study none of the lip contour patients who have disabilities, and does not affect the movement of the head and neck nerve pain or injury,” said researchers from the Aesthetic Surgery Center in Naples, Fla., as quoted by AP, Wednesday (17 / 3 / 2010).

Although relatively safe, but researchers warn of possible risks associated complications such as infections, problems in wound healing process or require further surgery to repair and trouble speaking, eating or tersebyum for several days.

Women who do lip surgery is usually due to the form of lip wrinkles do not appear full due to age. Because of other aging signs of skin, hair can also be seen from the changes in a thinner lips, or slightly smaller when the age of aging

parents and health workers should check the condition of the hip newborn because it is useful to prevent pain and permanent disability.

We have many cases of disability hip condition is not detected that should be overcome by doing a simple outpatient treatment.

Conditions unusual hip in infants is one serious problem. Because if it is detected late can cause an expensive treatment and cause permanent disability from a limp leg, bones break easily, so could not walk.

The disease is diagnosed with Developmental Dysplasia of the Hip (DDH). DDH usually includes a variety of conditions of instability or dislocation of the hip. If you can be detected as early, the treatment given is quite simple and does not require surgery.

The cause of DDH is unknown but allegedly due to breech position or the size of a large fetus. Genetic factors also allegedly played a role. Clinical examination for DDH performed after 72 hours of birth through the X-ray or ultrasound (ultrasound).

Infants should be routinely checked on the hip problem, because if detected at an adult to undergo surgery, treated in the hospital for long periods and some permanent disability.

“All babies have to do a clinical examination for DDH after 72 hours of birth. Those who have the disorder or disease risk have to do ultrasound and ditindaklajuti until 6-8 weeks,” said a spokesman for the British health department, as quoted by BBC News, Tuesday (16 / 3 / 2010).

There are some signs that might be indicative of problems in the baby’s feet, namely:

1. One leg was shorter than the other leg.
2. The existence of a deeper folds in the thigh pagian.
3. When a baby crawls dragging one leg.
4. Walking with a limp, limping or berlenggak sway.

Such cases have been experienced by the family of Buckinghamshire Pitt. This family does not manage to avoid the disease dialmi their little daughter Daisy was diagnosed with ‘Clicky hips’.

New specialists began to provide care after a 5-month-old Daisy, so required a longer treatment to correct a hip problem than if the treatments performed in infancy.

Invasive treatment is required (the larger) a deeper and for 3 months up to his ankles to his chest in a cast. Daisy now has given signs of progress are encouraging.

“If only we knew more about Clicky hips, then the possibility that treatment could be more simple. Therefore parents must be sensitive to see the condition of newborn and early examination,” said the father Andy.