Cures

Cures - connecting health & science

MAR 23

Atelosteogenesis Type 2

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Atelosteogenesis type 2 is a rare genetic disorder that affects skeletal development. It belongs to a group of genetic conditions known as skeletal dysplasias, which are characterized by abnormal bone growth and development. Atelosteogenesis type 2 is caused by mutations in the SLC26A2 gene and is inherited in an autosomal dom

Atelosteogenesis Type 1

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Atelosteogenesis type 1 is a rare genetic disorder that affects bone and cartilage development in the body. The condition is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein called sulfate transporter. This protein is involved in the formation of cartilage and bone. Atelosteogenesis typ

Ataxia with Vitamin E Deficiency

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Ataxia with vitamin E deficiency (AVED) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the TTPA gene, which provides instructions for making a protein called alpha-tocopherol transfer protein (α-TTP). This protein is essential for the absorption and transport of vitamin E in the body.

Ataxia with Oculomotor Apraxia Type 4

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Ataxia with oculomotor apraxia type 4 (AOA4) is a rare genetic disorder that affects the nervous system. AOA4 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the defective gene (one from each parent) in order to develop the disorder. AOA4 is characterized by progressive prob

Ataxia with Oculomotor Apraxia Type 3

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Ataxia with oculomotor apraxia type 3 (AOA3) is a rare genetic disorder that affects the nervous system. It is also known as Spinocerebellar Ataxia Type 36 (SCA36). AOA3 is characterized by progressive problems with coordination and movement, including difficulty with balance and walking, as well as problems with eye movement.

Ataxia with Oculomotor Apraxia Type 2

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction (AOA2) is a rare autosomal recessive disorder that affects the nervous system. AOA2 is caused by mutations in the SETX gene, which provides instructions for making a protein called senataxin. This protein plays a crucial role in DNA repair, and mutations in the SETX gene can lead to impaired DNA repair, resulting in the death

Arbovirosis

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction refers to a group of viral diseases that are transmitted to humans and other animals by arthropods, such as mosquitoes, ticks, and sandflies. Some common arboviral diseases include dengue fever, Zika virus, chikungunya, and West Nile virus. Statistics According to the World Health Organization (WHO), around 700,000 people die

Arachnoiditis

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction is a rare but serious medical condition that involves inflammation of the arachnoid layer, one of the three membranes that surround and protect the brain and spinal cord. This condition can cause chronic pain, neurological deficits, and even paralysis. Arachnoiditis is a rare condition and its exact prevalence is not well-est

Arachnoid Cysts

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Arachnoid cysts are a type of brain cyst that develops between the arachnoid membrane, one of the layers that surround the brain, and the brain itself. These cysts are filled with cerebrospinal fluid (CSF) and can occur anywhere in the brain. Arachnoid cysts are a relatively common type of brain cyst, accounting for approximat

Aquagenic Urticaria

by David Reynolds / 5d

Zuletzt aktualisiert am 22. March 2023 von David Reynolds Introduction Aquagenic urticaria is a rare form of physical urticaria characterized by the development of hives or a rash on the skin when it comes into contact with water, regardless of its temperature or source. Aquagenic urticaria affects approximately 1 in 230 million people worldwide, making it an extremely rare condition. Causes The