BREAST CANCER AND PREGNANCY

25 evidenced based clinical practice guidelines for fertility preservation in cancer patients exist. Breast Cancer in Pregnancy is a rare problem but the incidence is growing, because pregnancy will be delayed in elder age groups. Diagnosis of Breast Cancer is often delayed. If there is a mass, you have to do at first an ultrasound and than mammography if it is necessary. A tumor should be biopsied. Each kind of surgery is possible. Sentinel lymphnode dissection is controversial discussed. It is because of the blue dye, because this substance is not allowed during pregnancy. Technetium is allowed, but will be not accepted by the mother, because of fear of radiance. Radiation and hormonal treatment should be postponed after pregnancy. Chemotherapy can be done after 16 week of gestation. Delivery should not be in the first 3 weeks after chemotherapy, because the nadir of white blood cells should not be at the time of delivery to avoid infection. The fetal outcome is quite normal except weight, because of preterm delivery and growth retardation. Termination of pregnancy will not optimize the cancer prognosis. Pregnancy after breast cancer treatment is possible, perhaps with better prognosis, but that can be due to the healthy mother effect. Because the most recurrence are in the first two years, women should wait 2 years and cryopreservation of ovarian tissue, eggs or embryos before chemotherapy should be done

HORMONAL CONTRACEPTION AND MAGNESIUM DEFICIENCY: A SUBANALYSIS OF THE MAGYN STUDY

The use of estrogen-containing hormonal drugs facilitates excretion of magnesium ions. It is therefore important to characterize women who use hormonal contraceptives, and to test correlation between the use of hormonal contraception -(HC) and the magnesium deficiency (MgD).Objectives. To create a profile of HC-using women who enrolled in the MAGYN study.Materials and Methods. The study included the disease registry (MgD in women with hormone-dependent diseases) and the data on safety and effectiveness of magnesium supplementation with a combination of magnesium citrate and pyridoxine. The standard questionnaire and biochemical determination of serum magnesium were used to diagnose MgD. The severity of MgD symptoms was evaluated using a 10-point visual analogue scale; the quality of life was assessed using the WHOQOL-BREF questionnaire after four weeks of therapy.Results. Among the total of 9168 women in the MAGYN study, hormonal contraceptives were used by 1528 women (16.7%). Of these women, combined estrogen-progestin single-phase contraceptives were used in 66.2% cases, a vaginal ring with a combination of estrogen and progestogen – 11.7%, and oral combined estrogen-gestagenic two-phase medications – 10.9%. The most common complaints among the women on hormonal contraception were "fatigue", "nervousness", "irritability", "state of chronic stress"; those symptoms were significantly more frequent in women with confirmed MgD. The prevalence of MgD in the group of women receiving hormonal contraception was 67%.Conclusion. The present study demonstrates high prevalence of MgD in women using hormonal contraception. Correcting MgD significantly improves the women’s health and their quality of life. Since the nutrition profile, behavior patterns, quality of life and social preferences of women may depend on urban population size, larger studies are warranted in cities with a population of >250 thousand to obtain the data relevant to the entire country

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is the recurrent or persistent mucocutaneous infection by Candida fungi, and hypothyroidism results from autoimmune thyroiditis. Patients with these diseases develop other infectious diseases, including viral, bacterial, and fungal diseases, and other autoimmune manifestations, including enterocolitis, immune cytopenia, endocrinopathies, and systemic lupus erythematosus. STAT1-GOF mutations are highly penetrant with a median age at onset of 1 year and often underlie an autosomal dominant trait. As many as 105 mutations at 72 residues, including 65 recurrent mutations, have already been reported in more than 400 patients worldwide. The GOF mechanism involves impaired dephosphorylation of STAT1 in the nucleus. Patient cells show enhanced STAT1-dependent responses to type I and II interferons (IFNs) and IL-27. This impairs Th17 cell development, which accounts for CMC. The pathogenesis of autoimmunity likely involves enhanced type I IFN responses, as in other type I interferonopathies. The pathogenesis of other infections, especially those caused by intramacrophagic bacteria and fungi, which are otherwise seen in patients with diminished type II IFN immunity, has remained mysterious. The cumulative survival rates of patients with and without severe disease (invasive infection, cancer, and/or symptomatic aneurysm) at 60 years of age are 31% and 87%, respectively. Severe autoimmunity also worsens the prognosis. The treatment of patients with STAT1-GOF mutations who suffer from severe infectious and autoimmune manifestations relies on hematopoietic stem cell transplantation and/or oral JAK inhibitors