Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias. One should be aware of ARSACS in cases of autosomally recessive inherited ataxias without common mutations

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41 %) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65 %) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered

Neonatal survival and kidney function after prenatal interventions for obstructive uropathies

Objectives: Prenatal interventions in LUTO (lower urinary tract obstruction) usually are still question of a debate between gynaecologist and paediatric nephrologist. We aimed the study to assess the early survival rate and renal outcome in LUTO foetuses. Material and methods: The study was a prospective data analysis of 39 foetuses from singleton pregnancies. All pregnant women with LUTO in the foetus were qualified for VAS based on a local practice. The mean time of first urine analysis ranged between 13–30 weeks of pregnancy. Primary end-point analysis included live birth, 28d-survival, pulmonary and renal function assessment in neonatal period. Results: From initial number of 39, six patients miscarried before the procedure was performed. Overall, 33 VAS were performer at the mean 21 week of pregnancy (range 14–30 weeks). 25/39 foetuses survived until delivery. Three neonates died in first 3 days of life. In the first month 3 children required peritoneal dialysis, but at 28 day all children were dialysis-free. Overall survival rate at 28 day was 56%. Renal function preservation of the initial group (39) turned out to be low — 18% (7/39). Conclusions: Our study showed average survival curves and complications. LUTO in the foetus had mostly unfavourable outcome in the neonatal period. The prenatal intervention did not increase it significantly and did not guarantee the preservation of normal kidney function

The yield of eggplant depending on climate conditions and mulching

The field production of eggplant in moderate climates is difficult as it depends heavily on thermal conditions. Eggplant is a species that is sensitive to low temperatures, and temperatures below 16°C constrain the growth of young plants. Other disadvantageous factors include: temperatures that are too high, water shortage and excessive soil humidity. The growth conditions for eggplant can be improved by using mulches. The purpose of the experiment was the assessment of eggplant cropping while using synthetic mulches of polyethylene foil and polypropylene textile. The research took five years (2008-2012) and on the basis of the obtained results it was possible to determine the influence of weather conditions on the yielding of this species. It was proven that eggplant cropping significantly depended on the air temperature and the amount of rainfall during the vegetation period. The highest yield was observed when the average air temperature was high and at the same time rainfall was evenly distributed throughout the vegetation season. It also turned out that the agro-technical procedure which significantly increased eggplant fruit cropping was mulching the soil with polyethylene black foil, or transparent foil, previously having applied a herbicide

Effect of Soil Regenerative Practice on Selected Soil Physical Properties and Eggplant (<i>Solanum melongena</i> L.) Yield

Living mulches can play a crucial role in the protection of the soil against erosion, as well as biological and chemical degradation. Soil fertility and its physical properties, including soil structure, are of special importance to crops. Soil physical properties are affected, among other factors, by the type of tillage. In order to determine the effect of regenerative practice (living mulches) on soil physical properties, a two-factorial experiment was conducted. The first factor involved white clover and perennial ryegrass as an intercropping of eggplant. The second factor was the living mulches sowing term: three weeks before eggplant planting, at the time of planting and three weeks after eggplant planting. Covering eggplant inter-rows with living mulches reduced eggplant yield and was beneficial to soil structure and improved water resistance of soil aggregates. Perennial ryegrass had a slightly more advantageous effect on yield and improvement of soil physical properties, as compared to white clover. The greater eggplant fruit yield was obtained from vegetable grown without companion plants. The application of living mulches (especially Trifolium repens L.) caused a non-significant decrease in eggplant fruit yield. It was found that limiting the growth of seedlings sown on the first date result in a decrease in marketable fruit yield (on average 14%). A similar result occurred when living mulches were sown on the planting date of eggplants and difference between the yields was 4.3%. The first term of sowing living mulches—three weeks before eggplant planting—no significantly affected the mean weighted diameter of soil aggregate (MWDg), the water stability index (ΔMWD), the index of waterproof index (Wod) and the soil structure index (W). Later sowing terms resulted in the improvement of the majority of the parameters; however, this was not confirmed statistically. Soil with periodic mechanical treatment of inter-rows showed the 3–4% lower values of soil porosity, 3–16% increased compactness, as well as 28–30% lower indices soil structure and 28–30% for water resistance of soil aggregates compared to the living mulches system

B7H3 Role in Reshaping Immunosuppressive Landscape in MSI and MSS Colorectal Cancer Tumours

The study aimed to assess the expression of B7H3 concerning clinicopathological and histological parameters, including MSI/MSS status, CD-8 cells, tumour-infiltrating lymphocytes (TILs), budding, TNM scale and grading. Moreover, we analyzed the B7H3-related pathways using available online datasets and the immunological context of B7H3 expression, through the 48-cytokine screening panel of cancer tissues homogenates, immunogenic features and immune composition. The study included 158 patients diagnosed with CRC. To assess B7H3 levels, we performed an immunohistochemistry method (IHC) and enzyme-linked immunosorbent assay (ELISA). To elucidate the immune composition of colorectal cancer, we performed the Bio-Plex Pro Human 48-cytokine panel. To study biological characteristics of B7H3, we used online databases. Expression of B7H3 was upregulated in CRC tumour tissues in comparison to adjacent noncancerous margin tissues. The concentrations of B7H3 in tumours were positively associated with T parameter of patients and negatively with tumour-infiltrating lymphocytes score. Additionally, Principal Component Analysis showed that B7H3 expression in tumours correlated positively with cytokines associated with M2-macrophages and protumour growth factors. The expression of B7H3 in tumours was independent of MSI/MSS status. These findings will improve our understanding of B7H3 role in colorectal cancer immunity. Our study suggests that B7-H3 is a promising potential target for cancer therapy. Further studies must clarify the mechanisms of B7H3 overexpression and its therapeutic importance in colorectal cancer