Muscular dystrophy – Is caused by muscle weakness

Muscular dystrophy - Make A Wish participant enlisted

Muscular dystrophy - National Poster Child of the Year

Muscular dystrophy - Cleveland, Ohio, USA

Muscular dystrophy - Child receiving torch money - Federal Building in Cleveland, Ohio, USA
Stem cells administrationDuchenne muscular photo essayDuchenne muscular dystrophy

Muscular dystrophy – Is caused by muscle weakness

Muscular Dystrophy – This disease is the result of weakened muscles and has nothing to do with damage to the nervous system. There is a 25% chance that the child will acquire muscular dystrophy from the parents. What is certain, however, is that the problem lies in the muscle cells themselves. The patient’s body is unable to produce protein dystrophins, without which our muscles cannot work. There are two types of dystrophy. The more severe one is Duchenne dystrophy, which affects both adults and children. Sick boys quickly end up in a wheelchair, and the work of their hearts and lungs deteriorates. The maximum life expectancy with the disease is 20 years.

The second type of dystrophy is called Becker’s dystrophy. It manifests itself in patients a little later, usually after the age of 10. The first symptoms of this type of dystrophy include weakness in the calf, pelvic and thigh muscles. Scientists warn that 30% of patients did not get sick for reasons genetic , but their chromosome was attacked by a new mutation.

Haemophilia – Result is a morbid bleeding tendency

Haemophilia - American practice of surgery

Haemophilia - Protein registered with 1cfh code

Haemophilia - Protein registered with 2aer code - (18-02-2009)

Haemophilia - Family tree of Queen Victoria
Haemophilia - Javier Barbero - World Haemophilia Day 2018World Haemophilia Day 2018University Hospital La Paz, MadridThe diseases of infancy and childhood

Haemophilia – Result is a morbid bleeding tendency

Haemophilia – It is a hemorrhagic diathesis associated with the deficiency of blood coagulation factors. The disease manifests itself exclusively in men. The result of a blood clotting disorder in a patient is a morbid bleeding tendency. The disease spreads through a defective X chromosome allele. Women can only be carriers of haemophilia, while men who have this mutation will or may not have the disease. Daughters of sick men transmit the disease always because they inherit a defective X chromosome, while all sons remain healthy (inherit a Y chromosome).

Treatment of haemophilia is possible and is done with injections of a concentrated substance that helps blood to clot, which the patient’s body lacks. If untreated, the disease can lead to spontaneous bleeding, which most often manifests itself in severe pain in the affected joint. In extreme cases, it can even lead to intramuscular bleeding, into the digestive system or urinary tract. The worst option is bleeding into the brain, which can be fatal.

The most famous carrier of haemophilia was Queen Victoria.

Achondroplasia – Most common cause of dwarfism

Achondroplasia - Hands of a girl

Achondroplasia - Hands of three sisters

Achondroplasia - Photo of young woman

Achondroplasia - Treasury of human inheritance
Mr. Keizer, the smallest man in the NetherlandsGirl with Achondroplasia and woman with MyxedemaChondrodystrophia foetalisAchondroplasia - An achondroplastic female dwarf

Achondroplasia – The most common cause of dwarfism

Achondroplasia – It is one of the most common causes of dwarfism. The disease is caused by an abnormal mutation in the FGFR3 gene , the receptor for the fibroblast growth factor. Achondroplasia is one of the bone dysplasias, i.e. impaired bone growth. People with achondroplasia are generally small. The adult reaches 120-130 cm, has a characteristic long torso and very short limbs. The skull, on the other hand, is expanded and has a broad, convex forehead.

Diagnosis of achondroplasia in a child is possible already during pregnancy using ultrasound of the amniotic fluid. The disease is caused by a gene mutation that prevents the skeletal system from developing efficiently. A parent’s disease means a child is 50 percent likely to have it. The disease cannot be treated, but spinal canal surgery is performed to prevent compression of the spinal cord. Limb extension surgery is also one option.

The main risk factor is the age of the parents.

Parasite causes malaria

Parasite causes malaria - Mosquito

Parasite causes malaria

Parasite causes malaria – Parasitic protista apikomkpleks that cause malaria, changing the chemical composition of the odors of their host so that their fragrance attracted more mosquitoes. The aim is to provide a spread descendants. They form the most attractive fragrance mosquito at the time in which the disease is most infectious.

Addictive sunbathing – Causes endorphin production

Addictive sunbathing - Sunbathing

Addictive sunbathing – Causes endorphin production

Addictive sunbathing – The need exposure to the Sun, as the most important source of vitamin D, we encoded in the genes. UV radiation causes the body’s production of endorphins. The hormones of happiness, of which we can be quite addictive.