When was the International Day of Rare Diseases launched? What are some common rare diseases in li

When was the International Day of Rare Diseases launched? What are some "common" rare diseases in life? Let's take a look at this problem**, I hope these contents can help friends in need.

The International Day of Rare Diseases was organized and organized by the European Organization for Rare Diseases on February 29, 2008. The first International Day for Rare Diseases celebrations were successfully held in countries around the world, promoting social development and understanding of rare diseases through a variety of themed activities.

On February 28, 2009, rare disease institutions in more than 30 countries including Europe, North America, and Latin America participated in the theme activities of the second International Day of Rare Diseases.

The International Day of Rare Diseases is dedicated to promoting awareness among the general public and the sector about rare diseases and the problems encountered by the rare disease population. Rare diseases refer to diseases with a very low prevalence rate and very rare, which are generally chronic and have serious consequences, and are often life-threatening. WHO defines rare diseases as diseases or variants that are in the middle of the total number of illnesses in the total population.

There are five to six thousand rare diseases identified internationally, accounting for about 10% of people's diseases.

In rare disease patients, most of them have multiple internal organs affected, especially the inspiratory, circulatory system, and central nervous system. Because of their weak immunity and the need to take care of their lives, they are more vulnerable to infection. However, it is more harmful to the respiratory tract after infection, and at the same time, it will also spread to other systems such as cardiovascular systems, causing malignant transformation of primary diseases.

In particular, rare diseases that involve genetically inherited respirate acid and key internal organs are more harmful.

At present, there are more than 7,000 kinds of rare diseases identified internationally, such as sepsis, "ceramic dolls", and "motor neuron disease", but there are also many rare diseases that are not well known. Scientific studies have shown that more than 80% of rare diseases are caused by genetic causes, and 50% are complicated by birth or childhood. Once the other half inherits the same defective genes, the next generation will have a high risk of developing rare diseases.

The average diagnosis time for rare disease patients is as long as 5 years, even in countries with more advanced health care management systems, and thousands of families are running around the complicated medical industry, but they are repeatedly misdiagnosed. Rare diseases involve many courses such as hematology, brain surgery, nervous system, kidney function, inspiration, skin, etc., and clinicians widely lack specialized skills in rare diseases.

Every rare disease is different, and it is difficult to diagnose it. High misdiagnosis, high misdiagnosis, and difficulty in taking medication are the difficulties faced by patients with rare diseases. For the prevention of rare diseases, it is necessary to do a good job of early detection, early diagnosis, treatment, and medicine.

According to authoritative experts, the vast majority of rare diseases are genetic diseases. In order to avoid and reduce the occurrence of rare diseases at the source, it is necessary to build an Internet for the screening of newborn babies across the country, improve the rules and regulations for pre-pregnancy examinations and disease screening, and diligently reduce the incidence of high-risk newborn babies including rare diseases.

It was initiated on February 29, 2008, albinism, ALS, osteogenesis imperfecta, hemophilia, galactosaemia, these are all rare diseases that are often seen, and are generally caused by genetic reasons.

The International Day for Rare Diseases was launched in 2008. The "common" rare diseases in life are: albinism, acromegaly, phenylketonuria, mitochondrial disease, idiopathic pulmonary hypertension, hemophilia and so on.

The International Day of Rare Diseases was launched in 2008, and albinism, idiopathic pulmonary hypertension, acromegaly, phenylketonuria, and mitochondrial disease are all common rare diseases.

It was launched on February 29, 2008. There are albinism, mitochondrial disease, phenylketonuria, acromegaly, porcelain dolls.

Rare diseases, also known as rare diseases, have unclear causes, and are mostly congenital or hereditary diseases, also known as orphan diseases. Rare diseases account for the total number of people affected, and they are difficult to ** but have a very low incidence rate. The following categories of rare diseases are more common:

1. Albinism, albinism is a series of syndromes caused by genetic mutations that cause defects in melanin production.

2. Acromegaly, acromegaly is a disease caused by excessive secretion of growth hormone caused by excessive hyperplasia of the hypothalamus and pituitary gland.

3. Idiopathic pulmonary hypertension.

4. Phenylketonuria.

5. Mitochondrial disease.

The number of rare diseases accounts for about one millionth of the total population, and the rare diseases that are more familiar in China, including phenylketonuria, thalassemia, osteogenesis imperfecta, albinism, acromegaly, idiopathic pulmonary hypertension and other diseases, are diseases with a small incidence probability and are not easy to develop, and need more social attention.

Rare diseases that are more familiar in China include phenylketonuria, thalassemia, osteogenesis imperfecta, and some special inflammations caused by some bacteria and viruses. In addition, due to the limitations of medical conditions and medical technology, some diseases, such as some metabolic diseases, will be classified as rare diseases.

Common rare diseases in life include albinism, hemophilia, porcelain doll disease, ALS, spinal muscular atrophy, phenylketonuria, thalassemia, etc.

Common rare diseases in life include albinism, mitochondrial disease, acromegaly, phenylketonuria, and osteogenesis imperfecta.

1. What is International Rare Disease Day?

2. Survive in isolation.

3. Farmhouse cuisine.

4. Ladder. 5. Water Fun Games.

6. CS field battle.

7. Precautions.

1.What is International Rare Disease Day? The first International Day for Rare Diseases was initiated and organized by the European Organization for Rare Diseases (EURODIS) on February 29, 2008.

The first International Day of Rare Diseases commemorations were successfully held in various European countries, promoting awareness of rare diseases through various activities. On this day, for a healthy life. With friends, go camping in Shuangyue Bay, Huidong.

2.Survive in isolation. teamwork projects in isolated island survival activities; Project Description:

The group divided the trainees into three groups, which were placed on Taiping Island, Blind Island and Dumb Bar Island, and then rescued all the personnel to Taiping Island. Training Objectives: Group Decision-making; leadership roles; Rational arrangement of human resources; teamwork; the search for a scientific approach to problem solving; Handling of major and minor contradictions.

At the same time, it is a good maritime pastoral development activity.

3.Farmhouse cuisine. To put it simply, it is a dish prepared by rural people using traditional methods of raising poultry stocks, growing vegetables and local naturally grown specialties as raw materials.

According to the traditional farming and planting habits, domestic livestock are generally only fed with rice, miscellaneous grains, vegetable leaves, grass, etc., the growth is slow, the maturity period is long, so the meat quality of poultry is firm, and the amino acid content is high. Our travelers are the only outdoor outward bound activity plan.

4.Ladder. The Ladder is a two-player co-op event.

The two members of the team cooperated with each other under the condition of safety protection, from the lower end of the ladder to the highest point. It is also an effective outreach training at the moment. learn to make decisions in groups; role positioning; a scientific approach to finding solutions to difficult situations; rational use of human resources; Interpret the hard journey of life, step by step and work hard; Determination and realization of work objectives; dedication to others; Communication under the condition of double collapse and empty people.

5.Water Fun Games. The Water Fun Games are water sports and entertainment activities that are carried out on the beach, riverside or indoor swimming pool, with water fun as the main content.

Water fun sports include: water dumplings; bench planing; Treasure fishing at the bottom of the pool; Heroes save beauty; Swim across with weights.

6.CS field. CS field game is actually a game that imitates army combat, participants are wearing various military uniforms, holding toy BB guns, equipped with various field equipment, shuttling between the jungle, showing a variety of formations, personal skills, all into the role of a soldier or general.

7.Precautions. If it is judged that it is likely to rain that night, the camp and the tent should be treated with the necessary rain, in addition to choosing a good campsite, you need to dig a flood ditch, strengthen the tent and enhance the rainproof performance, such as you can cover the tent with rainproof plastic sheeting, raincoats, etc., and place various travel supplies in the tent.

To prevent rain, you should observe the weather changes before camping, and if you travel often, you will be able to master it by observing and accumulating more experience.

The first International Day of Rare Diseases was initiated and organized by the European Organization for Rare Diseases on February 29, 2008. The timing of this is a sign of the rarity of certain diseases. Since then, the last day of February of Nogami has been named International Rare Disease Day.

There are 6,000-7,000 internationally recognized rare diseases, accounting for about 10% of human diseases. Rare diseases are diseases that have a very low incidence and are rare, and the World Health Organization defines rare diseases as diseases that affect between the total number of people in the population and 1. At the same time, it is also known as "orphan disease" because of the small number of rare diseases, the lack of medical treatment and the fact that they are often serious.

The general alfalfa grass has only three leaves, and among the 100,000 alfalfa plants, there will be a four-leaf variant, and the "four-leaf clover" is also given the meaning of luck, so the Chengyou belt is a sign of rare diseases. At the same time, "four-leaf clover" also hopes that rare disease patients are full of true love, health, hope and happiness, and the "four-leaf clover" image is launched in China on the International Day of Rare Diseases, so as to call on the whole society to pay attention to rare diseases.

Rare Diseases** and when did they occur? How difficult is it to diagnose and treat rare diseases?

Rare diseases"Today is World Rare Disease Day, and my clinic also has a rare child with femoral dysplasia with hip dysplasia! This kid is my friend and my colleague. It will be very difficult for this child.

The first step will be reduction of the femoral head, which is equivalent to surgery for hip dysplasia. Because I am almost two years old, I can only choose surgery! The dysplastic part of the femoral head needs to be removed, and then the normal part is lengthened to the same length as the contralateral side, and then the two bones are surgically connected, and there are some details in between, such as how to ensure the normal development of the hip joint, how to lengthen the shortened thigh?

How to ensure that it does not shrink again after **? I wish there was a better, more reasonable, better way to ** her? Please advise!

We were all life-or-death patients in the intensive care unit and would be transferred out when our condition was stable, but there was one 17-year-old girl who stood out to me, not only because of her condition, but also because of her illness for the first time I learned about it. 17 years old is in the mood for love, but this girl does not see the breath of youth on her face, but has difficulty breathing and is not energetic. In our department, pulmonary hypertension has only been diagnosed, but the underlying disease has not yet been identified.

After the patient's condition is relieved, we recommend the patient to go to Beijing **** for further examination.

Later, the patient's mother called me and said that the patient had been diagnosed with Pompe disease through genetic testing. This is the first time we have heard of this disease, but after checking the data, we found that it is completely consistent with the patient's symptoms. Pompe disease is a lysosomal storage disorder that is inherited in an autosomal recessive manner.

Due to a mutation in the gene encoding acid-glucosidase on chromosome 17, the deficiency of acid-glucosidase in the body leads to the accumulation of abnormal metabolism of sugar in the lysosomes of muscle cells, resulting in severe neuropathy.

The incidence in the population ranges from 1 40,000 to 1 300,000. Infants develop onset soon after birth and develop dysphagia and swollen tongue gradually. Most children die before the age of 2 from respiratory or cardiac complications.

Advanced Pompe disease is characterized by progressive muscle weakness, exercise intolerance, progressive respiratory muscle involvement, and respiratory failure. The heart is rarely affected.

February 28 of every year is the "International Day of Rare Diseases", which is mainly set up to promote the awareness of the society and various departments about rare diseases and the related issues of patients suffering from rare diseases, hoping to promote everyone's understanding of rare diseases through this festival. In fact, the number of rare diseases in China is quite large, and the number of patients with various rare diseases in China has exceeded 20 million. <>

1. Rare diseases are not rare

In fact, according to statistics, the number of rare diseases that have been discovered has exceeded 7,000 kinds, accounting for about 10% of the total number of human diseases, and 80% of these rare diseases are caused by genetic defects, these rare diseases are hereditary, 50% of rare disease patients are children, and 30% of children may not survive to 5 years old. <>

2. How many rare diseases are there in China?

At present, the number of rare diseases in China has exceeded 20 million, and 80% of rare diseases are related to genetic factors, and not all genetic factors are dominant. Rare diseases are also known as orphan diseases, and the drugs for this disease are also known as orphan drugs, because this drug is relatively rare, coupled with the relatively high cost of research and development, the risk in the process of research and development, and the market demand is relatively small, so in the world, less than 10% of rare diseases can be approved to develop drugs, and most of the rare diseases are very high at the time, and it is difficult for ordinary families to pay, so it is very unfortunate for families to encounter this rare disease. <>

At present, the state is also actively promoting the drug research and development and marketing of this rare disease, and opening a green channel for the drug research and development of these rare diseases, as well as registration and approval, so that these rare drugs can be marketed as soon as possible. At present, the state still attaches more importance to the medication of patients with rare diseases, and also tries to expand the scope of medical insurance. At present, 67% of this rare drug in China is included in the medical insurance, which is also to reduce the burden on patients.