Professional burnout of doctors in Poland and in the world. Research review

The work of a doctor is one of the most demanding. It requires not only a great deal of knowledge, but also a lot of commitment, responsibility and often devoting one's private life. It is called a prestigious job for a reason. Unfortunately, it is also very absorbing both mentally and physically. Increasing stress leads to emotional exhaustion, and its consequence may be burnout

Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome

Treacher Collins Syndrome (TCS) is associated with an abnormal differentiation of the first and the second pharyngeal arch during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in general population with the frequency of in 1 in 50,000 live births. TCS is caused by mutations in the TCOF1 gene. This gene encodes the serine/alanine-rich protein named Treacle. TCS can also be caused by mutations in the POLR1C and POLR1D genes.About 70% of recognized mutations of the TCOF1 gene are deletions, which lead to a frame shift,  formation of termination codon and shortening of the protein product of the gene. A heterozygous insertion c.2013_2014insG was described in one patient with TCS. The insertion causes premature termination of translation at 680aa

Psychological Stress and Cellular Aging in Cancer: A Meta-Analysis

Background. Epidemiological evidence continues to accumulate on the effect of psychosocial and behavioral factors in relation to cancer risk, progression, and mortality. Material and Methods. This article presents the current evidence on the relationship between psychological stress and the risk of cancer and cellular aging process. Ten databases were searched to identify publications up to September 2019. References from retrieved articles were also reviewed. We included nine review papers and 26 cohort or case-control studies based on inclusion/exclusion criteria. Results. Results of previously published review articles did not show consistent evidence for the association between cancer risk and psychological stress, while previous evidence is stronger regarding the role of chronic psychological stress on cancer growth and metastasis and aging. In seven observational studies, severe life events, anxiety, depression, insufficient social support perception, or avoiding coping strategy were significantly associated with breast cancer risk. For other specific types of cancer, 11 studies reported increased risk factors for stressful life events, and two others found increased mortality or a decline in treatment adherence. Conclusions. Recent epidemiological evidence generally suggests psychosocial factors may be considered risk factors for specific types of cancer and play a key role in the cellular aging process. Understanding molecular mechanisms of the stress interaction is important in cancer management and prevention. The psychological stressors should be considered when developing or evaluating change in psychosocial practice

Isochorismate synthase 1 is required for thylakoid organization, optimal plastoquinone redox status, and state transitions in Arabidopsis thaliana

Isochorismate synthase 1 (ICS1) is a crucial enzyme in the salicylic acid (SA) synthesis pathway, and thus it is important for immune defences. The ics1 mutant is used in experiments on plant–pathogen interactions, and ICS1 is required for the appropriate hypersensitive disease defence response. However, ICS1 also takes part in the synthesis of phylloquinone, which is incorporated into photosystem I and is an important component of photosynthetic electron transport in plants. Therefore, photosynthetic and molecular analysis of the ics1 mutant in comparison with wild-type and SA-degrading transgenic NahG Arabidopsis thaliana plants was performed. Photosynthetic parameters in the ics1 mutant, when compared with the wild type, were changed in a manner observed previously for state transition-impaired plants (STN7 kinase recessive mutant, stn7). In contrast to stn7, deregulation of the redox status of the plastoquinone pool (measured as 1–q p) in ics1 showed significant variation depending on the leaf age. SA-degrading transgenic NahG plants targeted to the cytoplasm or chloroplasts displayed normal (wild-type-like) state transition. However, ics1 plants treated with a phylloquinone precursor displayed symptoms of phenotypic reversion towards the wild type. ics1 also showed altered thylakoid structure with an increased number of stacked thylakoids per granum which indicates the role of ICS1 in regulation of state transition. The results presented here suggest the role of ICS1 in integration of the chloroplast ultrastructure, the redox status of the plastoquinone pool, and organization of the photosystems, which all are important for optimal immune defence and light acclimatory responses

SHAPING OF THE WETNESS COEFFICIENT IN THE MĄTNY STREAM BASIN IN THE GORCE MOUNTAINS

In the work there was presented results of investigations of wetness coefficient defined as ratio of water content in an any point of a basin to comparative point located on the Surface of a basin, carried out according to model proposed by Svetlitchnyi et al. (2003). The obtained research results were compared with the empirical ones carried out during various soil humidity periods AMC (Antedescent Moisture Conditions). Investigations were carried out in the Mątny stream basin, of area 1,47 km2, located between Gorce and Beskid Wyspowy. Comparative analysis showed very low fitting for the experimental results. Model proposed by Svetlitchnyi et. al. (2003) requires the analysis of influence of another factors oh distribution of this parameter on the area of a basin

Maternal practices and perceptions of child body mass status explain child energy expenditure behaviors and body mass

This study investigated whether maternal perceptions of child body mass status would predict child body mass index (BMI) z-score via two sets of sequential mediators: (1) four maternal practices promoting child energy expenditure and (2) children’s energy expenditure behaviors. The data of N = 729 mother–child dyads were collected at baseline [T1; n = 495 at 7- to 8-month follow-up (T2)]. Mothers reported perceptions of child body mass status and maternal practices (T1); children reported sedentary screen use and physical activity (T1, T2). Child body mass was assessed objectively (T1, T2). Higher stimulation to be active (T1) was related to a lower child BMI z-score (T2) via higher levels of child physical activity (T2). Higher levels of monitoring of screen use (T1) were associated with higher child BMI z-score (T2) via lower levels of child physical activity (T2). Encouraging parents to stimulate their children to be active may be beneficial for children’s weight maintenance

Genetic differentiation of the edible dormouse Glis glis in the Stolowe Mountains (Poland)

This is a continuation of our study started in 2013, where we dealt with genetic diversity of the edible dormouse in the Stolowe Mountains National Park (south-western Poland). A total of 48 dormice from 5 localities were studied. Molecular study involved 12 microsatellite sequences. Low genetic variability of the studied population was found.

MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis

The clinical picture of autoimmune hepatitis (AIH) varies markedly between patients, potentially due to genetic modifiers. The aim of this study was to evaluate genetic variants previously associated with fatty liver as potential modulators of the AIH phenotype. The study cohort comprised 313 non-transplanted adults with AIH. In all patients, the MARC1 (rs2642438), HSD17B13 (rs72613567), PNPLA3 (rs738409), TM6SF2 (rs58542926), and MBOAT7 (rs641738) variants were genotyped using TaqMan assays. Mitochondrial damage markers in serum were analyzed in relation to the MARC1 variant. Carriers of the protective MARC1 allele had lower ALT and AST (both P < 0.05). In patients treated for AIH for ≥ 6 months, MARC1 correlated with reduced AST, ALP, GGT (all P ≤ 0.01), and lower APRI (P = 0.02). Patients carrying the protective MARC1 genotype had higher total antioxidant activity (P < 0.01) and catalase levels (P = 0.02) in serum. The PNPLA3 risk variant was associated with higher MELD (P = 0.02) in treated patients, whereas MBOAT7 increased the odds for liver cancer (OR = 3.71). None of the variants modulated the risk of death or transplantation. In conclusion, the MARC1 polymorphism has protective effects in AIH. Genotyping of MARC1, PNPLA3, and MBOAT7 polymorphisms might help to stratify patients with AIH