Aurora magazine

Under the term "mitochondrial diseases" include disorders with heterogeneous characteristics. In general, it indicates a group of inherited genetic diseases caused by mitochondria malfunction. The latter are the "energy centers" of the cells. When they do not work properly, they cause disturbances that can involve different tissues.

Mitochondria have their own DNA, susceptible to alterations other than that of nucleotide DNA. Mitochondrial diseases are the result of these alterations and are hereditary, even if they follow their rules. At the time of fertilization, the new individual inherits the mitochondria only from the egg cell. For this reason, diseases of this type are often inherited only by the mother.

Most mitochondrial diseases affect the muscles and the brain. In fact, it is the tissues that most need energy and therefore suffer the most from it. Usually these two forms of mitochondial diseases occur with anemia, pancreatic dysfunctions and cardiac disorders. Often the children who suffer from it show slow growth, deafness and diabetes. Adults tend to get tired soon.

Heterogeneity of symptoms makes diagnosis of mitochondrial diseases difficult. Usually the suspicion arises from the presence of symptoms with progressive course in unrelated organs. The definitive diagnosis comes by finding the deficiency of certain proteins, essential for producing energy. In recent years, the use of genetic tests and prenatal screening tests has also spread. The latter are useful in the presence of family cases.

To date there is no cure for mitochondrial diseases. In some cases it is possible to make up for the deficit of certain substances. There are also medicines useful for reducing the most debilitating symptoms and slowing the progression of the disease.

Source: telethon.it

Those suffering from mitochondrial diseases often remain without diagnosis for years. A study by Columbia University Irving Medical Center documents the difficulties of these patients. It is estimated that in fact about 75,000 Americans live with these genetic diseases. Nevertheless, many of them do not know the source of the problems that afflict them.

The researchers interviewed 210 patients with mitochondrial diseases. On average, subjects had to consult 8 different doctors before being diagnosed. Many of them have performed diagnostic tests of various kinds, from blood tests to biopsies. More than half of the participants - 55% - reported having received a wrong diagnosis. Almost a third - 32% - received two or more misdiagnoses, such as:

• 13% a psychiatric disorder;
• 12% fibromyalgia;
• 9% chronic fatigue syndrome;
• 8% multiple sclerosis.

The study showed how difficult it is to diagnose mitochondrial diseases. The road that leads to the truth is for many riddled with wrong and conflicting diagnoses, questions and different doctors. For this reason, Michio Hirano, principal author of the study, decided to document everything.

The study participants reported in all over 800 different symptoms. The most common is the chronic weakness, reported by about 62% of people. Followed by permanent fatigue (56%), difficulty walking (39%), falling eyelids (33%) and lack of coordination (32%). The variety of symptoms gave rise to the large number of misdiagnoses mentioned above.

The difficulties in finding a correct diagnosis are largely the result of a variegated symptomatology. Many primary care physicians are not used to dealing with the symptoms of a rare genetic disease. This leads them to confuse them with something else and to give the wrong diagnosis, even if in good faith. This indicates the need for new standard tools to facilitate the diagnosis of certain diseases.

Source: mailman.columbia.edu

Researchers at the University of Illinois at Chicago have rejuvenated the ovaries of two women with early menopause. For this purpose, they used stem cells injected directly into the ovaries. Within six months, women began to menstruate and could return fertile. Given the success of this first test, the next step will be to extend treatment to 33 other women.

The researchers used autologous mesenchymal stem cells, obtained from the patient's bone marrow. They injected them into a single ovary, so that they could take note of the differences with each other. After transplantation, they performed blood tests, ultrasounds and safety studies on the two women. Everything you need to keep under control the symptoms of menopause and the state of health of the patients.

Study coordinator Ayman Al-Hendy reported increased estrogen levels three months after transplantation. Furthermore, the treated ovaries have grown in size compared to those of control. Neither of the women showed complications or side effects. According to the researchers, it is possible that women return fertile and are able to conceive.

Al-Hendy's study is not the first to treat early menopause using stem cells. However, it was the first time that the researchers injected the stem cells directly into the ovaries. In fact, in a test by the Ivi Clinic in Valencia, the researchers had injected them through the ovarian artery.
If the study were successful, it would give new hope to many women affected by early menopause. It could also help those who incur in this condition due to a tumor.

Source: huffingtonpost.it

Playing sports during pregnancy helps you stay fit and is good for both mother and child. According to a study by the Technical University of Madrid, physical activity also helps to shorten labor.

The team of Professor Ruben Barakat has carried out a study on 508 pregnant and healthy women. 253 of them did the control group, while 255 did sport during pregnancy. Women in the second group followed an aerobic program three times a week throughout the gestation period.

At the time of delivery, the researchers took note of a number of factors, including:

• duration of labor;
• weight gained by the mother;
• use of the epidural;
• weight of the child.

Women who had participated in aerobics classes had a shorter average labor. In particular, physical exercise seems to have reduced the duration of the first phase of labor and the total duration. Furthermore, the women of the second group made less use of the epidural than those of the first group. Even the weight of newborns was more normal among the new mothers who had done sports during pregnancy.

The study is yet another test of how much exercise in pregnancy is useful for both the mother and the child. It is necessary for the woman to adhere to a program of exercises that is moderate and in line with the needs of pregnancy. Nevertheless, a minimum of attention is enough to enjoy great benefits in the long term.

Source: independent.co.uk