Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority of cases the molecular pathogenesis has so far not been resolved. Originally, the molecular cause of isolated BDE has been unravelled in 2 families and shown to result from heterozygous missense mutations in the homeodomain of the <it>HOXD13 </it>gene. Since the initial manuscript, one further <it>HOXD13 </it>mutation has been reported only in a single family manifesting isolated BDE.</p> <p>Case Presentation</p> <p>In this paper, we report on a Polish family exhibiting isolated BDE caused by a novel nonsense heterozygous <it>HOXD13 </it>mutation. We investigated a Polish female proband and her father, both affected by isolated BDE, in whom we identified a nonsense heterozygous mutation c.820C > T(p.R274X) in the <it>HOXD13 </it>gene. So far, only two missense <it>HOXD13 </it>substitutions (p.S308C and p.I314L), localized within the homeodomain of the HOXD13 transcription factor, as well as a single nonsense mutation (p.E181X) were associated with BDE. Both missense changes were supposed to alter DNA binding affinity of the protein.</p> <p>Conclusion</p> <p>The variant p.R274X identified in our proband is the fourth <it>HOXD13 </it>mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described <it>HOXD13 </it>associated phenotypes and mutations.</p

Involvement of toll-like receptor 9 polymorphism in cervical cancer development

The role played by the polymorphism located in Toll-like Receptor 9 (TLR9) as a risk factor of cervical cancer remains elusive. Therefore, we studied the association of the TLR9 −1486 T/C (rs187084) and C2848T (rs352140) polymorphisms with cervical cancer. The TLR9 −1486 T/C and C2848T polymorphism was genotyped in 426 patients and 460 unrelated healthy females from the Polish population. Logistic regression analysis adjusting for age, pregnancy, oral contraceptive use, tobacco smoking, and menopausal status showed that both the TLR9 −1486 T/C and C2848T polymorphisms could be a genetic risk factor for cervical cancer. For the TLR9 −1486 T/C polymorphism, the adjusted OR for patients with the C/T genotype versus T/T genotype was 1.371 (95 % CI 1.021–1.842, p = 0.0361), the adjusted OR for the C/C genotype vs the T/T genotype was 1.300 (95 % CI 1.016–1.507, p = 0.0096), and the adjusted OR for the C/T or C/C genotype vs the T/T genotype was 1.448 (95 % CI 1.099–1.908, p = 0.0083). For the C2848T polymorphism, the adjusted OR for patients with the C/T genotype vs C/C genotype was 1.443 (95 % CI 1.019–2.043, p = 0.0380), the adjusted OR for the T/T genotype vs the C/C genotype was 1.237 (95 % CI 1.016–1.507, p = 0.0328), and the adjusted OR for the T/C or T/T genotype vs the C/C genotype was 1.345 (95 % CI 0.976–1.855, p = 0.0700). Our studies suggest that the TLR9 −1486 T/C and C2848T polymorphisms may be a genetic risk factor for cervical cancer

Predicting of waterproof insulation durability - tests of natural and accelerated ageing

Przedstawiono metodykę badań trwałości rolowych materiałów hydroizolacyjnych. Omówiono wyniki badań starzenia przyspieszonego metodą UVCON i starzenia naturalnego oraz korelacje między wynikami badań "przyspieszonych" a obserwacjami w warunkach naturalnych

Analiza numeryczna zachowania się cieczy wewnątrz częściowo wypełnionego zbiornika poruszającego się ruchem nieustalonym

The paper describes the behavior of the liquid in a container that moves with a constant speed along a track consisting of three arcs. Such a complicated track shape generates complex form of inertia forces acting on the liquid and generates the sloshing effect. The behavior of the tank container vehicle is affected by the time-dependent inertia forces associated with the transient sloshing motion of the liquid in the non-inertial frame. These internal excitations, acting on a tank construction, can cause a loss of stability of the vehicle. For that reason, the authors analyze the dynamic loads acting on the walls of the tank truck container. The variation of the position of the liquid cargo gravity center, that depends on the filling level of the container, is also analyzed. The simulations were performed according to the varying fill level, which was 20%, 50% and 80% of a liquid in the whole tank volume. The simulations were carried out for a one-compartment container. Another aim of this study was the investigation of the influence of container division (tank with one, two and three compartments) on behavior of the liquid. These simulations considered only the half-filled container which was treated as a dangerous configuration prohibited by the law regulations for one-compartment tank. The results of simulation are presented in the form of visualization of temporary liquid free surface shape, variation of forces and moments, as well as frequency analysis. The results of simulation were analyzed, and some general conclusion were derived, providing the material for future investigation and modifications of the law regulations.Artykuł opisuje zachowanie się cieczy wewnątrz zbiornika, który porusza się ze stałą prędkością wzdłuż toru składającego się z trzech łuków. Na zachowanie zbiornika cysterny mają wpływ siły zależne od czasu związane z nieustalonym ruchem cieczy w układzie nieinercjalnym. Wewnętrzne wymuszenia działające na konstrukcję zbiornika mogą spowodować utratę stabilności pojazdu. Z tego powodu w artykule przeanalizowano obciążenia dynamiczne działające na ściany zbiornika pojazdu cysterny, a także zmianę położenia środka ciężkości przewożonej cieczy, w zależności od stopnia napełnienia zbiornika. Symulacje zostały przeprowadzone dla różnych stopni napełnienia przewożonym ładunkiem, tj. 20%, 50% i 80% cieczy w całkowitej objętości zbiornika. Dla tych stopni napełnienia rozpatrywano zbiornik jednokomorowy. Kolejnym celem badań było sprawdzenie wpływu podziału zbiornika (na jedną, dwie i trzy komory) na zachowanie się cieczy wewnątrz zbiornika. W tym przypadku rozważano zbiornik wypełniony cieczą w połowie, co uważane jest jako niebezpieczny stopień napełnienia zabroniony według regulacji prawnych dotyczących przewozu materiałów w cysternach ze zbiornikiem jednokomorowym. Wyniki symulacji zostały przedstawione w postaci kształtów powierzchni swobodnej, przebiegu sił i ich momentów działających na ściany zbiornika a także analizy częstotliwościowej tych sygnałów. Wyniki zostały przeanalizowane i na ich podstawie wyciągnięto wnioski, które dają podstawę do dalszych badań w tym temacie i dyskusji nad możliwymi zmianami w regulacjach prawnych dotyczących przewozu cieczy w cysternach

Groundwater qualitative changes in the abandoned "Grodziec" Coal Mine

W wyniku likwidacji kopalń i zatapiania wyrobisk górniczych dochodzi do zmian położenia zwierciadła wód podziemnych w karbońskim piętrze wodonośnym. W północnej części GZW 34 kopalnie węgla kamiennego są połączone ze sobą hydraulicznie. Połączenia te występują na różnej głębokości i mają różny charakter, co sprawia, że nie można całkowicie zatapiać kopalń zlikwidowanych, bo zatopieniu uległyby również sąsiednie kopalnie czynne. Jedynie w dwóch kopalniach "Siersza" i "Morcinek", prowadzone jest całkowite zatapianie wyrobisk górniczych. W trakcie likwidacji kopalń zmienia się także jakość wód podziemnych wypływających z nieczynnych wyrobisk górniczych. Szczególnie intensywne zmiany zachodzą w wodach kopalnianych po zatopieniu wyrobisk dołowych. Ich skład chemiczny zmienia się w porównaniu ze składem sprzed likwidacji kopalni. Zmienia się odczyn w kierunku kwaśnego, a wody wzbogacają się w niektóre jony, głównie siarczany. W pracy przedstawiono prognozę zmian jakościowych i ilościowych wód podziemnych opracowaną na podstawie badań modelowych dla zlikwidowanej Kopalni Węgla Kamiennego "Grodziec"Closing of mines and flooding old workings is accompanied by a change of the groundwater table level in the Carboniferous aquifer. The 34 coal mines in the north part of the Upper Silesian Coal Basin are connected hydraulically. The connections appear at different depths and are of different character (direct, indirect). Such old workings cannot be totally flooded as the neighboring operational mines could be flooded as well. Only old working in the mines "Siersza" and "Morcinek" are being totally flooded. In the course of closing, the quality of groundwaters from inactive workings changes. Especially great changes take place in mine's waters after flooding the old workings at the bottom. The chemical composition of groundwaters changes in comparison to the state, when the mine was operational. Their pH becomes more acid in character, and new ions (mainly sulfate) appear. The qualitative and quantitative changes are forecast for groundwaters. It was based on modeling made for the "Grodziec" Coal Min

Effects of plastic and biodegradable mulch films in field tomato cultivation

The yield quantity and quality depend on genetic factors, cultivation system and environmental conditions. Growth conditions can be improved by mulching the soil with plastic and biodegradable materials. A 2-factor experiment was conducted in 2011–2013 in the Wroclaw University of Environmental and Life Sciences. The method of random blocks in 3 repetitions was applied. The aim of the study was to compare the yielding of tomato cultivars: Awizo F1, Brixol F1 and Polonaise F1 on synthetic mulches: transparent, black and white polyethylene film (0.05 mm thick), on black polypropylene nonwoven of the mass of 60 g·m-2, and on biodegradable film BioAgri, 0.025 mm thick. Significant differences were observed in the quantity of marketable tomato yield in particular years of the experiment. In most favorable year 2012, the yield was by 26% and 56% larger, as compared to other years. The marketable yield of Awizo F1 cultivar was higher, on average by 33.1% and 64.7%, than in the case of Brixol F1 and Polonaise F1. The plants mulched with polyethylene and biodegradable film revealed a tendency to a higher yields as compared to those cultivated on nonwoven or without any mulches

The Problems of Identification of Landscape Quality Objectives: the Review of International Experience and the First Polish Researches

The European Landscape Convention (EKK), signed by The Council of Europe on October 20, 2000 obliges the members of The European Union to identify their own landscapes throughout their territories, to analyse their characteristic features which are considered the most important to be preserved and to examine the society?s views on the landscape quality objectives. Many countries, including Poland, have already begun their research in this field. The international meeting of the workshops for the implememtation of the European Landscape Convention is held every year. This article presents the review of the contemporary methods of landscape quality measures in the European Union. The first research in this field conducted in Poland took place in The Roztocze - Solska Forest Biosphere Reserve. The collected experiences made the authors to formulate the basic methodology of the identification of landscape quality objectives

The problem of estimating costs of establishing protection areas in selected MGBs in the Quaternary aquifers of the Middle Odra region

One of the important tasks of state policy is to protect groundwater against quantitative and qualitative degradation. Estimation of costs of establishing protection areas of MGBs is of crucial meaning taking into account the balance between the costs of prohibitions and restrictions and the benefits related to the value of protected groundwater resources. The costs have been evaluated on the basis of a legal opinion, where the key components are major prohibitions that take into account the assumptions of the Water Law, the Environmental Protection Act, and the Local Spatial Development Plans. The analysis was based on two MGBs located in the Central Odra region, characterized by different sizes, hydrogeological conditions and development, both of Quaternary age. The land cover and the development of the area are keyfactors influencing potential compensations and conflicts. The final results of the calculations with accuracy to the municipality have shown a strong dominance of the benefits of the existence and protection of both MGBs over the possible costs