62 research outputs found

    Dalsze losy dzieci ze stwierdzonym prenatalnie poszerzeniem przezierności karkowej oraz prawidłowym kariotypem

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    Objective: The aim of the study was a long-term follow-up of children with prenatally found increased nuchal translucency (NT) and normal karyotype. Material and methods: The study was conducted among 147 pregnant women who underwent amniocentesis due to increased fetal NT with or without other structural anomalies in the fetus. The final analysis concerned children with prenatally found increased NT and normal karyotype who were at least 2 years of age. A questionnaire was sent to all patients who underwent amniocentesis in order to assess the development of the children. Results: Normal karyotype was found in 101 (68.7%) fetuses with increased NT. Complete information on the outcome of pregnancy and further development of the children was submitted by 70 patients (69.3%). An abnormal outcome of pregnancy, congenital structural anomalies and abnormal development was found finally in 17.1% of the children. In case of normal result of the second-trimester fetal ultrasound scan, normal further development was found in 93% of the children. Conclusions: 1. Further development of the children with prenatally found increased NT and normal karyotype is usually normal. 2. The degree of NT increase and the result of the second-trimester fetal anatomy scan seem to play the key role in the prognosis of further, postnatal outcome of the fetuses with increased NT. 3. Normal karyotype in fetuses with increased NT does not exclude the possibility of an existing genetic syndromeCel pracy: Celem pracy była długoterminowa ocena dalszych losów dzieci, u których stwierdzono prenatalnie poszerzenie przezierności karkowej (NT) oraz prawidłowy kariotyp. Materiał i metody: Badaniami objęto pierwotnie 147 kobiet ciężarnych, u których wykonano amniopunkcję genetyczną z powodu poszerzenia przezierności karkowej u płodu współistniejącego lub nie z innymi nieprawidłowościami anatomicznymi. Ostateczna analiza dotyczyła dzieci ze stwierdzonym prenatalnie poszerzeniem przezierności karkowej, u których stwierdzono prawidłowy kariotyp i które ukończyły przynajmniej 2 rok życia. W celu oceny dalszego rozwoju dzieci do wszystkich pacjentek poddanych amniopunkcji genetycznej wysłano ankiety lub skontaktowano się z nimi telefonicznie. Wyniki: Prawidłowy kariotyp stwierdzono u 101 (68,7%) płodów z poszerzeniem NT. Pełne informacje na temat dalszego losu ciąży, płodów oraz zdrowia i rozwoju pourodzeniowego dzieci uzyskano od 70 pacjentek czyli od 69,3% badanych. Ostatecznie nieprawidłowy dalszy rozwój ciąży, wady płodu lub zaburzenie rozwoju dziecka po urodzeniu stwierdzono u 17,1% badanych. W przypadku prawidłowego obrazu usg płodu w 2. i 3. trymestrze ciąży, mimo wcześniej stwierdzanego poszerzenia NT, niezaburzony dalszy rozwój dziecka dotyczył ponad 93% badanych. Wnioski: 1. Dalszy rozwój dzieci ze stwierdzonym prenatalnie poszerzeniem NT i prawidłowym kariotypem jest najczęściej prawidłowy. 2. W poradnictwie prenatalnym, co do dalszego rokowania u płodów z poszerzeniem przezierności karkowej i prawidłowym kariotypem, kluczowymi wydają się stopień poszerzenia NT oraz wynik oceny ultrasonograficznej anatomii płodu. 3. Prawidłowy wynik badania cytogenetycznego u płodu z poszerzeniem NT nie wyklucza możliwości występowania u niego zespołu genetycznego

    Forest-cover increase does not trigger forest-fragmentation decrease : case study from the Polish Carpathians

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    Understanding the causes and consequences of forest-fragmentation changes is critical for preserving various ecosystem services and to maintain biodiversity levels. We used long-term (1860s–2010s) and large-scale data on historical forest cover in the Polish Carpathians to identify the trajectories of forest fragmentation. Past forest cover was reconstructed for the 1860s, 1930s, 1970s and 2010s using historical maps and the contemporary national database of topographic objects. We analyzed forest-cover changes in 127 randomly selected circular test areas. Forest fragmentation was quantified with GuidosToolbox software using measures based on a landscape hypsometric curve (LHC). Despite a general increase in forest cover, forest fragmentation showed divergent trajectories: a decrease between the 1860s and 1930s (in 57% of test areas), and an increase between the 1930s and 1970s and between the 1970s and 2010s (in 58% and 72% of test areas, respectively). Although deforestation typically involves the increasing fragmentation of forest habitats, we found that forest expansion may not necessarily lead to more homogenous forested landscape, due to complex land-ownership and land-use legacy patterns. This is both a challenge and an opportunity for policy makers to tune policies in such a way as to maintain the desired fragmentation of forest habitats

    Impact of the percentage of muscle and fat tissue and muscle strength on the quality of life of people over 60 years of age

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    Introduction: Physical activity is crucial in a person’s life. It has an impact on health, motor and mental fitness. Implementation of physical activity affects the percentage of human body tissues. The aim of the study is to conduct an analysis influence of the percentage of muscle and fatty tissue and muscle strength on the quality of life of people over 60 years of age.Material and methods: The study was conducted among 86 patients (the average age was: 72) from Geriatrics Clinic, qualified for Geriatric Comprehensive Assessment in scheduled mode. Measurements of anthropometric parameters were performed: 1) for body composition was used TANITA weight; 2) for muscle strength measurement of the upper limbs was used a hand dynamometer; 3) quality of life measurement by the FACIT scale.Results: In case of the higher percentage of adipose tissue, the lower muscular strength of the patients. Incase of the higher percentage of muscle mass, the higher muscular strength of the patients. Correlation of muscle strength (kg) with the quality of life (4 domains measured by FACIT scale) was significant and amounted respectively: physical domain R = 0.34 (p < 0.001), social domain R = 0.25 (p = 0.031), emotional domain R = 0.27 (p = 0.021), functional domain R = 0.35 (p < 0.001).Conclusions: The results clearly present that the higher muscle strength of older people has an influence on a higher level of quality of life. It is necessary to aware carers of the elderly people that physical activity maintain as much muscle mass and strength as possible which contributes to ensuring the best quality of life for the elderly

    CRISPR/Cas9 screen for genome-wide interrogation of essential MYC-bound E-boxes in cancer cells

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    The transcription factor MYC is a proto-oncogene with a well-documented essential role in the pathogenesis and maintenance of several types of cancer. MYC binds to specific E-box sequences in the genome to regulate gene expression in a cell-type- and developmental-stage-specific manner. To date, a combined analysis of essential MYC-bound E-boxes and their downstream target genes important for growth of different types of cancer is missing. In this study, we designed a CRISPR/Cas9 library to destroy E-box sequences in a genome-wide fashion. In parallel, we used the Brunello library to knock out protein-coding genes. We performed high-throughput screens with these libraries in four MYC-dependent cancer cell lines - K562, ST486, HepG2 and MCF7 - which revealed several essential E-boxes and genes. Among them we pinpointed crucial common and cell-type-specific MYC-regulated genes involved in pathways associated with cancer development. Extensive validation of our approach confirmed that E-box disruption affects MYC binding, target-gene expression and cell proliferation in vitro as well as tumor growth in vivo. Our unique, well-validated tool opens new possibilities to gain novel insights into MYC-dependent vulnerabilities in cancer cells.</p

    Results of Fullerton Test in older people. Group comparison due to the Nordic Walking and long walks undertaking

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    Introduction: Standardly, high level of physical activity is prescribed to the older patients. However, it is worth to examine if every kind of physical activity give the same amount of health benefits, or is it dependent on its modality.Aim: The purpose of above studies is to measure the differences in Fullerton subtests results in group who does vs in group who does not undertake regular long walks (LW) and Nordic Walking (NW).Material and methods: Subtests of Fullerton tests were used to examine the physical performance of patients. Physical activity questionnaire was used to distinguish groups of patients who do vs do not engage in long walks and Nordic Walking regularly.Results: There were no statistically significant differences in Fullerton scores due to NW-engagement. In contrary, group engaged in LW walked 42.41 meters more in 6-minute walk tests than group who do not undertake such activity. Moreover, Upper Right and Left Limbs Strength tests and its mean scores were better in LW-group by 4.23, 4.6 and 4.09 repetitions, respectively.Conclusions: There was no statistically significant differences in results of Fullerton subtests between group of NW-engaged older people comparing to group who do not undertake NW. Group of participants engaged in long walks had better scores aerobic capacity and upper limbs strength tests

    CRISPR/Cas9 screen for genome-wide interrogation of essential MYC-bound E-boxes in cancer cells

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    The transcription factor MYC is a proto-oncogene with a well-documented essential role in the pathogenesis and maintenance of several types of cancer. MYC binds to specific E-box sequences in the genome to regulate gene expression in a cell-type- and developmental-stage-specific manner. To date, a combined analysis of essential MYC-bound E-boxes and their downstream target genes important for growth of different types of cancer is missing. In this study, we designed a CRISPR/Cas9 library to destroy E-box sequences in a genome-wide fashion. In parallel, we used the Brunello library to knock out protein-coding genes. We performed high-throughput screens with these libraries in four MYC-dependent cancer cell lines - K562, ST486, HepG2 and MCF7 - which revealed several essential E-boxes and genes. Among them we pinpointed crucial common and cell-type-specific MYC-regulated genes involved in pathways associated with cancer development. Extensive validation of our approach confirmed that E-box disruption affects MYC binding, target-gene expression and cell proliferation in vitro as well as tumor growth in vivo. Our unique, well-validated tool opens new possibilities to gain novel insights into MYC-dependent vulnerabilities in cancer cells.</p

    CRISPR/Cas9 screen for genome-wide interrogation of essential MYC-bound E-boxes in cancer cells

    Get PDF
    The transcription factor MYC is a proto-oncogene with a well-documented essential role in the pathogenesis and maintenance of several types of cancer. MYC binds to specific E-box sequences in the genome to regulate gene expression in a cell-type- and developmental-stage-specific manner. To date, a combined analysis of essential MYC-bound E-boxes and their downstream target genes important for growth of different types of cancer is missing. In this study, we designed a CRISPR/Cas9 library to destroy E-box sequences in a genome-wide fashion. In parallel, we used the Brunello library to knock out protein-coding genes. We performed high-throughput screens with these libraries in four MYC-dependent cancer cell lines - K562, ST486, HepG2 and MCF7 - which revealed several essential E-boxes and genes. Among them we pinpointed crucial common and cell-type-specific MYC-regulated genes involved in pathways associated with cancer development. Extensive validation of our approach confirmed that E-box disruption affects MYC binding, target-gene expression and cell proliferation in vitro as well as tumor growth in vivo. Our unique, well-validated tool opens new possibilities to gain novel insights into MYC-dependent vulnerabilities in cancer cells.</p

    CRISPR/Cas9 screen for genome-wide interrogation of essential MYC-bound E-boxes in cancer cells

    Get PDF
    The transcription factor MYC is a proto-oncogene with a well-documented essential role in the pathogenesis and maintenance of several types of cancer. MYC binds to specific E-box sequences in the genome to regulate gene expression in a cell-type- and developmental-stage-specific manner. To date, a combined analysis of essential MYC-bound E-boxes and their downstream target genes important for growth of different types of cancer is missing. In this study, we designed a CRISPR/Cas9 library to destroy E-box sequences in a genome-wide fashion. In parallel, we used the Brunello library to knock out protein-coding genes. We performed high-throughput screens with these libraries in four MYC-dependent cancer cell lines - K562, ST486, HepG2 and MCF7 - which revealed several essential E-boxes and genes. Among them we pinpointed crucial common and cell-type-specific MYC-regulated genes involved in pathways associated with cancer development. Extensive validation of our approach confirmed that E-box disruption affects MYC binding, target-gene expression and cell proliferation in vitro as well as tumor growth in vivo. Our unique, well-validated tool opens new possibilities to gain novel insights into MYC-dependent vulnerabilities in cancer cells.</p

    CRISPR/Cas9 screen for genome-wide interrogation of essential MYC-bound E-boxes in cancer cells

    Get PDF
    The transcription factor MYC is a proto-oncogene with a well-documented essential role in the pathogenesis and maintenance of several types of cancer. MYC binds to specific E-box sequences in the genome to regulate gene expression in a cell-type- and developmental-stage-specific manner. To date, a combined analysis of essential MYC-bound E-boxes and their downstream target genes important for growth of different types of cancer is missing. In this study, we designed a CRISPR/Cas9 library to destroy E-box sequences in a genome-wide fashion. In parallel, we used the Brunello library to knock out protein-coding genes. We performed high-throughput screens with these libraries in four MYC-dependent cancer cell lines - K562, ST486, HepG2 and MCF7 - which revealed several essential E-boxes and genes. Among them we pinpointed crucial common and cell-type-specific MYC-regulated genes involved in pathways associated with cancer development. Extensive validation of our approach confirmed that E-box disruption affects MYC binding, target-gene expression and cell proliferation in vitro as well as tumor growth in vivo. Our unique, well-validated tool opens new possibilities to gain novel insights into MYC-dependent vulnerabilities in cancer cells.</p

    Potential applications of virtual reality devices in older people. Narrative review

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    Introduction Many of the non-pharmacological therapeutic interventions such as physical and mental exercises are focused on some of the dimensions of human cognition only. Therefore, methods involving immersion in VR (VR) might presumably belong to the more effective treatment methods. VR is a rapidly evolving technology, which is successfully and increasingly present in various branches, including medicine. Despite its increasing popularity for many people it is still new and unexplored, which leads to negative opinions and unwillingness to use in geriatric population. Therefore, the main purpose of this article is to describe application of virtual reality and new technologies devices in geriatrics. Material and methods Articles in the EBSCO database were analyzed using keywords: virtual reality, frailty, pain, phobias, stroke rehabilitation, adverse effects. Available literature has been subjectively selected. Results Researches with applications of virtual reality techniques in sarcopenia and frailty, phobias, stroke rehabilitation, pain therapy were described. Moreover, potential adverse effects were discussed. Conclusions An overview of the research results in this area indicates that the virtual reality, possibly could be applied in mental and physical training in the cases of both physiological aging and various disorders. At the same time, the disadvantages and potential adverse effects have been pointed out. Further studies on application of VR in older people should be conducted to determine its effectiveness in various clinical and nonclinical settings
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