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

Inflammation and hypoxia in atherosclerosis, coronary artery disease, and heart failure

Inflammation is a process that occurs after tissue damage or counteract infection. It is a complex reaction involving various cells, proteins (chemokines, acute-phase proteins) and other factors. The precise understanding of the mechanisms affecting the distribution of inflammatory cells and their modulators in areas of inflammation may have a crucial role in the development of strategies blocking inflammatory processes. Hypoxia leads to deprivation of oxygen and when it develops, various mechanisms come into action to alleviate any consequences that it might cause. Hypoxia inducible factor (HIF) is one of the most important factors involved in the response to hypoxia. Recent studies provide a better understanding of both, inflammation and hypoxia, in the development of atherosclerosis and various diseases in the spectrum of cardiology

Chemical composition of Mn-and Cl-rich apatites from the szklary pegmatite, central sudetes, SW Poland: Taxonomic and genetic implications

The research was founded by the National Science Centre (Poland) grant number 2015/17/B/ST10/03231 and the University of Wroclaw grant 0401/0156/18Although calcium phosphates of the apatite group (apatites) with elevated contents of Mn are common accessory minerals in geochemically evolved granitic pegmatites, their Mn-dominant analogues are poorly studied. Pieczkaite,M1 Mn2 M2 Mn3 (PO4)3 X Cl, is an exceptionally rare Mn analogue of chlorapatite known so far from only two occurrences in the world, i.e., granitic pegmatites at Cross Lake, Manitoba, Canada and Szklary, Sudetes, SW Poland. In this study, we present the data on the compositional variation and microtextural relationships of various apatites highly enriched in Mn and Cl from Szklary, with the main focus on compositions approaching or attaining the stoichiometry of pieczkaite (pieczkaite-like apatites). The main goal of this study is to analyze their taxonomical position as well as discuss a possible mode of origin. The results show that pieczkaite-like apatites represent the Mn-rich sector of the solid solutionM1 (Mn,Ca)2 M2 (Mn,Ca)3 (PO4)3 X (Cl,OH). In the case of cation-disordered structure, all these compositions represent extremely Mn-rich hydroxylapatite or pieczkaite. However, for cation-ordered structure, there are also intermediate compositions for which the existence of two hypothetical end-member species can be postulated:M1 Ca2 M2 Mn3 (PO4)3 X Cl andM1 Mn2 M2 Ca3 (PO4)3 X OH. In contrast to hydroxylapatite and pieczkaite, that are members of the apatite-group, the two hypothetical species would classify into the hedyphane group within the apatite supergroup. The pieczkaite-like apatites are followed by highly Mn-enriched fluor-and hydroxylapatites in the crystallization sequence. Mn-poor chlorapatites, on the other hand, document local contamination by the serpentinite wall rocks. We propose that pieczkaite-like apatites in the Szklary pegmatite formed from small-volume droplets of P-rich melt that unmixed from the LCT-type (Li–Cs–Ta) pegmatite-forming melt with high degree of Mn-Fe fractionation. The LCT melt became locally enriched in Cl through in situ contamination by wall rock serpentinites.National Science Centre (Poland), University of Wrocla

Retrospective Analysis of Reasons for Presenting to Emergency Ophthalmic Care in Poland and the USA – Literature Review

Introduction. Emergency Department is a hospital unit, where is provided care in in cases of sudden threat to life and health. One of the reasons why patients come to the Emergency Department is eye damage. Emergency ophthalmological services are a very important form of ophthalmological care because some conditions and diseases require quick intervention to prevent permanent vision damage or eye loss. Patients come to hospital emergency departments for many reasons, such as: eyeball injury, sudden pain or unexpected deterioration of vision. It is worth noting that some patients do not understand the provision of services within health care units and in conditions that do not require urgent care, they seek it in emergency rooms. Aim of study. The following study analyzes the reasons for reporting to emergency ophthalmological services in Poland and the United States. Knowing the most common causes of patients' ailments and the factors that influence them, we can plan strategies for providing specific services within health care units. Materials and methods. The work reviews articles published in the years 2005-2023 in Poland and the United States of America. The results obtained from individual studies were divided in terms of age, gender, traumatic and non-traumatic causes. Additionally, it was checked how often patients had to be hospitalized after staying in Polish emergency departments. Conclusions. Injuries and other eye diseases affect patients regardless of gender and age. Most often, these are adult men

A preliminary investigation into the impact of shock wave therapy and sonotherapy on postural control of stepping tasks in patients with Achilles tendinopathy

ObjectiveThe outcomes of physical therapy are commonly assessed with subjective scales and questionnaires. Hence, a continuous search to identify diagnostic tests that would facilitate objective assessment of symptom reduction in those patients with Achilles tendinopathy who undergo mechanotherapy. The main aim of this study was to evaluate and compare the effectiveness of shock wave and ultrasound treatments, using objective posturographic assessment during step-up and step-down initiation.Materials and methodsThe patients with non-insertional Achilles tendinopathy and pain lasting for more than 3 months were randomly assigned to one of the experimental groups, i.e., radial shock wave therapy (RSWT), ultrasound therapy, or placebo ultrasound. All groups also received deep friction massage as the primary therapy. The transitional locomotor task was performed with the affected and unaffected limb in random order, on two force platforms under two conditions (step-up and step-down). The recording of center of foot pressure displacements was divided into three phases: quiet standing before step-up/step-down, transit, and quiet standing until measurement completion. Pre-intervention measurements were performed and then short-term follow-ups at weeks 1 and 6 post-therapy.ResultsThe three-way repeated measures ANOVA showed few statistically significant two-factor interactions between therapy type, time point of measurement and the type of the locomotor task. Significant increases in postural sway were observed in the entire study population throughout the follow-up period. Three-way ANOVAs revealed a group effect (shock wave vs. ultrasound) on almost all variables of the quiet standing phase prior to step-up/step-down initiation. Overall, postural stability before the step-up and step-down tasks appeared to be more efficient in patients who had undergone RSWT compared to the ultrasound group.ConclusionObjective posturographic assessment during step-up and step-down initiation did not demonstrate therapeutic superiority of any of the three therapeutic interventions used in patients with non-insertional Achilles tendinopathy.Clinical Trial Registration: The trial was prospectively registered in the Australian and New Zealand Clinical Trials Registry (no. ACTRN12617000860369; registration date: 9.06.2017)

Marketing

Praca recenzowana / Peer-reviewed paperArtykuły zebrane w niniejszym Zeszycie dotyczą problematyki zarządzania marketingowego w przedsiębiorstwach działających na rynkach krajowych i międzynarodowych. Efektywne funkcjonowanie współczesnych organizacji wymaga bowiem rozeznania warunków panujących na rynkach docelowych pozwalających na prawidłowe opracowanie ich strategii działania

Państwo, gospodarka, społeczeństwo w integrującej się Europie TOM 2

Ze wstępu: "Sekcja Zarządzania i Marketingu w ramach III Międzynarodowej Konferencji organizowanej przez Krakowską Szkołę Wyższą im. A. F. Modrzewskiego obradowała pod hasłem „Zarządzanie i marketing w procesie globalizacji”. Zarówno procesy globalizacji, jak i integracji obejmują szerokie spektrum przemian we wszystkich dziedzinach życia, do czego nawiązuje tytuł konferencji. Globalizacja jest procesem niekontrolowanym lub kontrolowanym tylko w niewielkim stopniu, integracja zaś podlega kontroli integrujących się państw, zależy od ich woli. Integracja jest łączeniem się mniejszych struktur w większe, dostosowaniem norm, otwarciem na współpracę. Globalizacja wynika przede wszystkim z postępu technicznego, który ułatwił wymianę informacji w skali całego globu. Globalizacja prowadzi w swej konsekwencji do umiędzynarodowienia działalności gospodarczej. Wynalazki z dziedziny multimediów i przetwarzania danych pozwalają przekraczać wiele barier w dziedzinie ekonomii, socjologii, kultury, techniki. W wielu przypadkach może to osłabiać działanie administracji państwowych i programów rządowych kreujących politykę gospodarczą państwa. Szczególnego tempa globalizacja nabiera na rynku finansowym, gdzie wiele produktów czy usług ma niematerialny charakter."(...

Marketing

Publikacja recenzowana / Peer-reviewed publicationZe wstępu: Niniejsza publikacja jest zbiorem artykułów obejmujących szeroki zakres tematyczny prezentowanych zagadnień, które odnoszą się zarówno do funkcjonowania nowoczesnych przedsiębiorstw działających m.in. w formie organizacji sieciowych, jak i instytucji non-profit, a także wszelkiego rodzaju stowarzyszeń realizujących swoje zadania w warunkach gospodarki konkurencyjnej na rynkach krajowych bądź międzynarodowych. Znajdzie tutaj również czytelnik interesujące przekroje analizy zachowań podmiotów indywidualnych (konsumentów) ujawnianych w trakcie podejmowania ważnych decyzji rynkowych, towarzyszących ich ekonomicznym wyborom. W układzie tematycznym Zeszytu wyodrębniono dwa bloki zagadnień. Pierwszy tworzą prace z zakresu zarządzania. Druga, najliczniejsza grupa prac ukazuje istotną tematykę badawczą odnoszącą się do zakresu działalności marketingowej firm, organizacji i instytucji. Tutaj też odnotować należy wieloaspektowy nurt rozważań prezentowanych przez autorów. Szerokie spektrum zagadnień prezentowanych w kolejnym, piątym już, Zeszycie Naukowym wynika z zainteresowań i badań własnych prowadzonych przez pracowników Wydziału Ekonomii i Zarządzania, którzy przygotowali powyższą publikację