Aurora magazine

Nemaline myopathy is a rare neuromuscular disease that occurs at birth, in infancy or even in adulthood. It is characterized by widespread muscular weakness, is not progressive and has varying degrees of severity.

The most serious forms of the disease manifest themselves in the neonatal phase. Infants struggle to feed and have respiratory and cardiac problems. Usually the disease leads to death within the first few months of life. The most common forms, however, appear in childhood, are moderate, non-progressive.

Children who suffer from myalactic myopathy have the muscles of the limbs, the trunk, and the face that are not toned. This causes muscle weakness, with difficulty in language and swallowing. Sometimes the anomalies affecting the facial muscles give a particular appearance to the face.
There is a rare form of disease that affects adulthood. It affects 4% of cases and is progressive, with varying severity from individual to individual. It causes respiratory weakness and limbs, but it has a strong clinical variability. Sometimes it also leads to joint pain.

Nemaline myopathy has genetic causes and can be both hereditary and sporadic. It affects several genes, all linked to the coding of muscle tissue proteins. Depending on the gene involved, the disease is transmitted with autosomal dominant or recessive mode. In the first case, a single sick parent has 50% of the chance to transmit the disease. In the second, parents are healthy carriers and have 25% of the chances of having a sick child.

The diagnosis of the disease occurs through clinical observation and muscle biopsy. In subjects with nonmaline myopathy, muscle fibers have rod shaped structures formed by protein assemblies. Given the variable nature of the disease, however, diagnosis can be very difficult. On the other hand, the discovery of some genes involved facilitated prenatal diagnosis.

For the time being, nonaligned myopathy does not care. If detected in time, you can prevent some of the effects and improve the patient's quality of life. They are also undergoing pharmacological therapies.

Rheumatoid arthritis is a chronic disease affecting the joints. The membrane that envelops them flashes and in this way causes progressive erosion of the cartilage. It is a very painful and very debilitating disease that limits the freedom of movement of those who suffer.

Rheumatoid arthritis affects mainly women between the ages of 35 and 50. It is an autoimmune disease, in which the person's immune system attacks the body itself. Specifically, white blood cells flatten against joint tissues and cause inflammation.

Chronic inflammation affects mainly synovium, the tissue that secures the lubricant for cartilage and bones. This thickens and with time it eats cartilage and entire bone parts. Muscles and ligaments that support the articulation weaken and labor to perform their functions.

Inflammation occurs with redness, swelling and pain. Those suffering from rheumatoid arthritis make it even harder to move and the situation is only destined to get worse. Timely intervention, however, can undermine bone damage and improve patient conditions.

The causes of the disease are still unclear. It is known that there are genetic factors: many patients have anomalies related to the functioning of the immune system. According to scholars, however, they would have a partial role in the manifestation of the disease. Genetic predisposition would be important but not decisive.

Given the uncertainty surrounding the disease, today most of the symptoms of rheumatoid arthritis are addressed. The treatments are aimed at: alleviating pain; Reduce inflammation; Curb the damage. For this purpose it acts both pharmacologically and by acting on the lifestyle.

When the disease is in acute phase, rest allows the joints to recover from inflammation. On the other hand, in the quiet moments a bit of exercise helps to strengthen the muscles and to safeguard joint mobility.

Lynch syndrome is a genetic predisposition syndrome, also called Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Those who suffer from it have many more chances to develop colorectal cancer throughout their lives. The syndrome also predisposes to other types of cancer, such as endometrial, ovarian, pancreas and others.

Although Lynch's syndrome is termed "Non-Polyposis", colonoscopy cancer usually develops from adenomatous polyps. These become malignant and cause cancer. Nonetheless, the polyps in question are much less numerous and diffused than in other pathologies such as the Family Adenomatosis Polypose.
Colon cancer cases are about 10-15% of all cancers. Their development involves both genetic and environmental factors such as fat-rich diet, poor fiber consumption, poor physical activity and obesity. This means that on the one hand Lynch syndrome increases the risk of tumor greatly, up to about 40-85%. On the other hand, who knows their situation is able to react with a healthy lifestyle and constant screening.

In the event of a diagnosis of Lynch's syndrome, doctors recommend that you follow the prevention program prepared by the International Study Group on Syndrome. This involves periodic examinations to detect possible traces of colorectal cancer and other organs. In the absence of symptoms, it is advised to carry out a colonoscopy annually. On this occasion, it is also possible to remove any adenomatous polyps. For the subject's family, however, it is good to check the presence of the genetic abnormality with the appropriate diagnostic screening.

The symptoms of Lynch's syndrome are the same as colon cancer: blood in the stools, constipation alternating with diarrhea, weight loss, exhaustion. Nevertheless, in the case of cancer caused by syndrome, doctors recommend more invasive therapies for preventive purposes.

Endometriosis affects about 10-20% of women of childbearing age, predominantly between 25 and 35 years. The disease affects the endometrial tissue, which under normal conditions develops in the uterine cavity. In women suffering from the disease, the tissue develops in other places.

Endometriosis can affect the ovaries, the pelvic peritoneum or other organs, such as the bladder and the intestines. The pathology involves the formation of cysts containing menstrual blood, produced by endometrial cells. It is not yet clear why this happens. It is theorized that during menstruation the blood passes from the uterus to the other pelvic organs. In doing so, it would carry endometrial cells that would develop out of their seat. Other scientists hypothesize a genetic predisposition to the development of the disease.

The symptoms of endometriosis are often silent and diagnosis occurs during routine checks. Other times, the disease manifests itself with disabling symptoms. Women in this second case have painful menstruation and sexual relations, they have an irregular cycle and are often sterile.

However, the association between endometriosis and infertility is still unclear. It is thought that the sterility of those suffering from endometriosis is largely related to mechanical factors. The pelvic organs have abnormalities and adherence that alter the connections between the tubes and the ovaries. Endometrial cysts also interfere with normal ovulation and implantation of the embryo in the uterus.

In the diagnosis of endometriosis, anamnesis is critical. Cases of chronic pelvic pain, pain during sexual act and menstrual irregularity are in fact alarm bells. After the medical history, the vaginal septal, uterine cervix and vaginal veins are examined. Finally, the ultrasound examination allows to identify any cysts and anomalies in the internal organs. In the most dubious cases, laparoscopy can be carried out, which involves the introduction of a probe into the navel.

The treatments change according to the severity of the disease. In milder cases, the doctor simply keeps the patient under control. In the most serious cases, surgery and hormone therapy are needed. Existing therapies, however, only need to keep the symptoms under control. They improve the quality of life of the patient, but they do not eliminate the disease.