Aurora magazine

Biliary atresia is a disease that affects the bile ducts, or the channels that carry bile from the liver to the intestine. It occurs already in the neonatal age and causes the reflux of bile into the liver, causing cirrhosis and yellowing of the skin. The fibrous tissue in the ducts blocks the bile flowing into the liver, further damaging the organ. The disease affects about one in 20,000 newborns, especially girls. Although the causes are genetic, it is not a hereditary disease except in very rare cases. Usually the atresia occurs between the second and sixth week of life.

The newborn has yellow skin, an enlarged liver and a swollen abdomen. The urine is dark and the stools are clear. All these symptoms are also present in other liver diseases, which makes the diagnosis more laborious. Before talking about atresia it is necessary to perform laboratory tests that exclude other pathologies. At this point ultrasounds are used to measure the size of the bile ducts. For the moment, the only treatment for biliary atresia is surgery.

The doctor creates a drainage of bile from the liver, so as to replace the blocked ducts. For this purpose we use a piece of intestine taken from the child himself. If all goes well, the jaundice disappears and the child returns to feel good at least for some time. You can follow a fairly normal diet, with due care. Unfortunately the operation is successful only in 50% of cases.

In the case of reduced bile flow, the child must reduce fat as much as possible. He must also take vitamin supplements, given that one of the tasks of bile is to absorb these substances. Even in the best cases, liver damage tends to continue its course and cause cirrhosis. At this point all that remains is liver transplantation.

Source: paginemediche.it

West syndrome is a rare form of epilepsy. The first symptoms manifest themselves in neonatal age: the baby has involuntary spasms, after which they let themselves go to crying. In some cases, spasms are concomitant with a slowing of psychomotor development.

The severity varies from case to case: there are children who at one year old can not sit still. Despite some treatments block the spasms, it happens that the psychomotor delay remains.

The root cause of West's syndrome is a brain abnormality caused by:

• malformation;
• infection;
• lack of oxygen.

Sometimes the cause is genetic or cryptogenic, that is connected to anomalies not yet identified. The genes most affected by mutations are ARX and STK9, but the syndrome may also be linked to trisomy 21 or to a deletion of the 1p39 region on chromosome 1.

The diagnosis of West syndrome occurs through analysis of the clinical picture of the electroencephalogram. The available treatments are mainly pharmacological and serve to stop spasms. In this way a large part of the repercussions on development are avoided and, if all goes well, the child can recover the lost functions. Unfortunately, in 50-60% of cases West's syndrome is resistant to treatment.

Source: telethon.it

Proteus syndrome is a rare genetic disease, with only 120 cases described to date. Those who suffer seem healthy at birth and the first symptoms occur only around 6-18 months.

The children show a symmetrical overgrowth, which usually affects the hands and feet. Excessive finger development and asymmetrical stretching of the limbs follow. Often these children have one leg or arm longer than the other, with deformations that can also affect the skull. As the disease progresses, cerebriformal nevi of the connective tissue can develop throughout the body.

On the neurological level, Proteus syndrome causes cognitive impairment, sinus thrombosis and intracranial lesions. Benign and, more rarely, malignant tumors also appear. There is also the risk of complications such as bullous pneumopathy, pulmonary embolism, deep vein thrombosis.

Diagnosis is made by clinical observation and molecular tests. There are three categories for the disease, each with its own specific criteria related to the most common symptoms. If these criteria do not occur, it is possible that this is a disease similar to Proteus syndrome but not comparable to it. The most common are CLOVE and Maffucci syndromes, Ollier's disease and others.

Unfortunately, there is no tool for prenatal diagnosis: most of the cases are related to sporadic, non-hereditary anomalies. However, good genetic counseling is recommended for those who experience PTEN mutations. In fact, these subjects can transmit the disease with an autosomal dominant mode.

There is no resolution therapy for Proteus syndrome. The approach is multidisciplinary and includes interventions to control the most severe symptoms. Physiotherapy and occupational therapy are helpful in many cases, as well as the removal of tumors and suspicious deformities. The prognosis changes depending on the severity of the complications.

Source: orpha.net

Ankylosing spondylitis - or ankylopoietic pelvispondylitis - is a genetic disease that affects the spine. It affects above all men and manifests itself around twenty years with pain, joint problems, heart problems. In its most severe forms it is very debilitating and can also affect the eyes, intestines and lungs.

The disease is a form of chronic inflammation, which originates from the point where the ligaments join the bone. Inflammation wears ligaments and the body replaces them with bone tissue. As the inflammation proceeds, more and more bone is formed which replaces the elastic tissue and limits the movements. When the process touches the spine, the vertebrae merge and form a single bone column. At this point, the damage is irreversible.

Ankylosing spondylitis is an ancient disease, perhaps the one Leopardi suffered from. Paleopathological studies have even revealed Egyptian mummies with damage compatible with the disease. Despite this, the first traces in the medical literature date back to 1559. Doctors have identified it as a distinct disease only in the mid-1800s. In the mid-1900s, X-rays allowed a better distinction compared to rheumatoid arthritis.

Even today it is unclear what the genetic cause of ankylosing spondylitis is. 96% of Caucasian patients have B27 protein on the surface of white blood cells. There should therefore be a genetic link, but it seems that environmental factors are important too.

The disease has important consequences on lifestyle: it makes it more difficult to work, the pain disturbs sleep and often also prevents driving. The often delayed diagnosis and the absence of a resolutive therapy contribute to making these people's lives even more difficult.

Source: sanihelp.it