Polymorphism of the FTO

The objective was to compare the impact of clinical and genetic factors on body mass index (BMI) in children with type 1 diabetes (T1DM) without severe obesity. A total of 1,119 children with T1DM (aged 4–18 years) were qualified to take part in the study. All children were genotyped for variants of FTO, MC4R, INSIG2, FASN, NPC1, PTER, SIRT1, MAF, IRT1, and CD36. Results. Variants of FTO showed significant association with BMI-SDS in the T1DM group. The main factors influencing BMI-SDS in children with T1DM included female gender (P=0.0003), poor metabolic control (P=0.0001), and carriage of the A allele of the FTO rs9939609 gene (P=0.02). Conclusion. Our research indicates, when assessing, the risk of overweight and obesity carriage of the A allele in the rs9939609 site of the FTO gene adds to that of female gender and poor metabolic control. This trial is registered with ClinicalTrials.gov (NCT01279161)

First families with spinocerebellar ataxia type 7 in Poland

Introduction. We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease. Material and methods. Two well-documented kindreds are presented. Results. The proband from Family 1 presented aged 54 years with vision worsening followed by progressive imbalance. Brain MRI demonstrated cerebellar atrophy. Genetic testing confirmed CAG repeat expansion (42/10) in ATXN7 gene. The proband from Family 2 developed imbalance at age 20, followed by progressive deterioration of vision. Brain MRI revealed cerebellar atrophy. Additionally, she developed chronic congestive heart failure and, at age 38, had cardiomyopathy with an ejection fraction of 20% and significant mitral and tricuspid regurgitation. Genetic analysis found abnormal CAG expansion in the ATXN7 (46/10). Conclusions and clinical implications. Vision loss due to pigmentary retinal degeneration is the distinguishing feature of SCA7 and often the initial manifestation. Although SCA7 is one of the most common SCAs in Sweden, it has never been reported in neighbouring Poland. Until now, cardiac abnormalities have only been described in infantile-onset SCA7 with large CAG repeats. The observed cardiac involvement in Family 2 may be coincidental, albeit a new possible manifestation of SCA7 cannot be excluded

Polymorphism of the FTO Gene Influences Body Weight in Children with Type 1 Diabetes without Severe Obesity

The objective was to compare the impact of clinical and genetic factors on body mass index (BMI) in children with type 1 diabetes (T1DM) without severe obesity. A total of 1,119 children with T1DM (aged 4-18 years) were qualified to take part in the study. All children were genotyped for variants of FTO, MC4R, INSIG2, FASN, NPC1, PTER, SIRT1, MAF, IRT1, and CD36. Results. Variants of FTO showed significant association with BMI-SDS in the T1DM group. The main factors influencing BMI-SDS in children with T1DM included female gender ( = 0.0003), poor metabolic control ( = 0.0001), and carriage of the A allele of the FTO rs9939609 gene ( = 0.02). Conclusion. Our research indicates, when assessing, the risk of overweight and obesity carriage of the A allele in the rs9939609 site of the FTO gene adds to that of female gender and poor metabolic control. This trial is registered with ClinicalTrials.gov (NCT01279161)

Praktyka kliniczna oceny minimalnej choroby resztkowej u chorych na szpiczaka plazmocytowego w Polsce: badanie ankietowe Polskiego Konsorcjum Szpiczakowego

Studies exploring the significance of minimal residual disease (MRD) in plasma cell myeloma (PCM) have proven its prognostic value, regardless of the type of administered treatment. In order to assess the current practice for evaluating MRD in Poland, we conducted a survey on the methods for assessing MRD and on the MRD testing time points at Polish hematological centres. Seven out of 15 institutions surveyed use of the flow cytometry (FC) method for MRD assessment. The FC-MRD assessment is performed uniformly only in those patients achieving complete remission(CR). However, the specific indications and assessment time points differed at the tested centres including: testing MRD only after autologous hematopoietic stem cell transplantation (auto-HSCT), after auto-HSCT and consolidation, after completion of first line chemotherapy or after obtaining CR in any line of treatment. The study also showed considerable heterogeneity in the FC-MRD methodology, which affects test sensitivity (from 10–3 to 10–5). None of the surveyed centres uses molecular techniques for MRD assessment. In 8 of the 15 institutions, patients are monitored by imaging techniques. Our survey may thus be useful for developing guidelines and standardization of MRD assessment in PCM in Poland.W badaniach nad znaczeniem minimalnej choroby resztkowej (MRD) w szpiczaku plazmocytowym (PCM) dowiedziono, że status MRD ma wartość prognostyczną niezależnie od zastosowanego leczenia. W celu poznania zasad monitorowania MRD u chorych na PCM w polskich ośrodkach hematologicznych przeprowadzono badanie ankietowe. W ankiecie zadano pytania dotyczące stosowanych metod wykrywania MRD oraz punktów czasowych, w których badania są wykonywane. W 7 z 15 ośrodków objętych badaniem ankietowym oznaczenia MRD w PCM wykonuje się w aspiratach szpiku kostnego metodą cytometrii przepływowej (FC). We wszystkich ośrodkach oznaczenia FC-MRD są wykonywane jedynie u chorych w całkowitej remisji (CR), jednak w różnych punktach czasowych — tylko po autologicznym przeszczepieniu krwiotwórczych komórek macierzystych (allo-HSCT), po allo-HSCT i konsolidacji, po zakończeniu leczenia pierwszej linii lub, w przypadku uzyskania CR, po dowolnej linii leczenia. Stwierdzono ponadto znaczne różnice w sposobie wykonywania badania FC-MRD wpływające na osiąganą czułość detekcji MRD (od 10–3 do 10–5). W żadnym z ankietowanych ośrodków nie ocenia się MRD w szpiku kostnym technikami molekularnymi. Monitorowanie choroby resztkowej metodami obrazowymi stosuje personel 8 z 15 ośrodków. Wyniki przeprowadzonej ankiety mogą posłużyć wypracowaniu wspólnych wytycznych i standaryzacji oceny MRD w PCM w Polsce

Results of Polish Adult Leukemia Study Group (PALG) project assessing TP53 mutations with next-generation sequencing technology in relapsed and refractory chronic lymphocytic leukemia patients — an 18-month update

Indtroduction and methods: In chronic lymphocytic leukemia (CLL), molecular and cytogenetic diagnostics are crucial for the determination of accurate prognosis and treatment choice. Among different genetic aberrations, del(17p13) or TP53 mutations constitute high-risk factors, and early identification of such defects is a high priority for CLL patients. While cytogenetic diagnostics is well-established and accessible for the majority of CLL patients in Poland, molecular diagnostics of TP53 mutations is performed only in a few ERIC-certified centers (eight as of September 2020), and only two of these employ next-generation sequencing (NGS) for routine analysis of TP53 status in CLL patients. Here we report the interim results of a project assessing TP53 mutations with NGS technology in relapsed or refractory CLL patients with confirmed negative del(17p13) status. 249 patients from 32 clinical centers were included in the study. Results: NGS analysis revealed TP53 mutations in 42/249 (17%) patients, half of whom (21/249, 8.5%) had subclonal mutations (VAF ≤10%). These results are in line with published data in relapsed/refractory CLL patients. Conclusions: The results of the project demonstrated the feasibility and accuracy of NGS testing in CLL patients despite several initial logistical and technical obstacles. Our study also proved that, with appropriate funding, CLL patients from any hematological center in Poland can have access to state-of-the-art molecular diagnostic

Zastosowanie korelacji w procesie fragmentacji pionowej rozproszonych baz danych

The main purpose of this paper is description of an approach of using data input correlation based on statistic of query and their frequency of occurrence in distributed databases. That approach is an alternative technique of reduction count of edges in graph. It also defines a direction and measure of dependence between particular elements. Described measure is used in determination of a partitioning criterium. This paper also presents a short characteristic a vertical fragmentation process based on statistic of query and development of a graphical partitioning algorithm which enable to solve disconnected graph problem.Celem poniższego artykułu jest przedstawienie podejścia dotyczącego zastosowania korelacji danych wejściowych opartych na statystyce zapytań i częstości ich wystąpienia w rozproszonych bazach danych. Podejście to stanowi alternatywną technikę redukcji liczby gałęzi w grafie podziału. Określa także kierunek i siłę zależności pomiędzy poszczególnymi elementami, która jest wykorzystywana przy ustalaniu kryterium podziału. Zawarto również krótką charakterystykę procesu fragmentacji pionowej opartej na statystyce zapytań oraz rozwinięcie algorytmu graficznego, umożliwiającego rozwiązanie problemu niespójności grafu

Current state of art of satellite altimetry

One of the fundamental problems of modern geodesy is precise defi nition of the gravitational fi eld and its changes in time. This is essential in positioning and navigation, geophysics, geodynamics, oceanography and other sciences related to the climate and Earth’s environment. One of the major sources of gravity data is satellite altimetry that provides gravity data with almost 75% surface of the Earth. Satellite altimetry also provides data to study local, regional and global geophysical processes, the geoid model in the areas of oceans and seas. This technique can be successfully used to study the ocean mean dynamic topography. The results of the investigations and possible products of altimetry will provide a good material for the GGOS (Global Geodetic Observing System) and institutions of IAS (International Altimetry Service). This paper presents the achievements in satellite altimetry in all the above disciplines obtained in the last years. First very shorly basic concept of satellite altimetry is given. In order to obtain the highest accuracy on range measurements over the ocean improved of altimetry waveforms performed on the ground is described. Next, signifi cant improvements of sea and ocean gravity anomalies models developed presently is shown. Study of sea level and its extremes examined, around European and Australian coasts using tide gauges data and satellite altimetry measurements were described. Then investigations of the phenomenon of the ocean tides, calibration of altimeters, studies of rivers and ice-sheets in the last years are given

Estimation of Cement Composites Fracture Parameters Using Deformation Criterion

A simple deformation criterion based on Dugdale’s cohesive zone model is presented. The criterion can be used for both the experimental determination of the critical stress intensity factor, KIc, and the critical tip opening displacement, CTODc. It can also be applied for the evaluation of the load capacity of structural elements. The criterion is presented in explicit and compact form, which allows straightforward calculations to be performed for the estimation of KIc and CTODc values from the experimental data obtained from samples with a U-shaped notch, rounded with an arbitrary radius. Thanks to the simple form of the approximate relationship between the maximal load level and the dimensionless notch tip opening displacement, the reverse procedure was obtained, i.e., the estimation of the value of the maximal force loading the structural element as a function of the known critical stress intensity factor

First results of time series analysis of the permanent GNSS observations at Polish EPN stations using GipsyX software

The aim of this work is to explore, for the first time in Poland, the possibility of determining Earth’s crust movements from permanent observations at selected permanent stations using the GipsyX software for a period of 8 years (2011-2018) in the ITRF2014 reference frame. The data used in this work are from 15 Aktywna Sieć Geodezyjna (ASG)-EUPOS stations from 2011 to 2018, which are also European Permanent Network (EPN) stations. The stations Borowa Góra, Borowiec, Józefosław, Lamkówko, and Wroclaw are also International Global Navigation Satellite Systems (GNSS) Service (IGS) stations. Daily data, rinex files, for these stations have been made available for this work by the Main Office of Surveying and Cartography. The calculations were made using the GipsyX software in the ITRF14 reference frame. The tests performed have shown that daily solutions from 8-yearlong time series give secular trends with an accuracy of 0.01 mm/yr. Our results suggest that there are small differences in horizontal and vertical velocities and in the accuracy estimated between our and EPN solutions. At some stations, for example, Łódź, the differences are much larger. The impact of additional GNSS observations on the accuracy of determination of horizontal and vertical movements of the Earth's crust shows a submillimeter accuracy in computed coordinates of stations even at a relatively small time interval. It means that multiGNSS Precise Point Positioning (PPP) processing can be used in the future for the estimation of geodynamic processes

Intra‑abdominal adhesions in ultrasound. Part I: The visceroperitoneal bordeline, anatomy and the method of examination

It needs to be emphasized that ultrasonography is a primary test performed in order to evaluate the abdominal wall and structures located in their vicinity. It allows for the determination of the anatomy and lesions in this localization. Thorough knowledge concerning the ultrasound anatomy of the tested structures constitutes a basis of all diagnostic successes. Therefore, this part of the article is devoted to this subject matter. The possibility to diagnose intra-abdominal adhesions with ultrasound is underestimated and rarely used. The aim of this paper is to discuss and document the ultrasound anatomy of the posterior surface of the abdominal wall as well as to present techniques directed at the detection of adhesions, in particular the visceroperitoneal ones. The posterior surface of the abdominal wall constitutes an extensive tissue area of complex structure, with folds and ligaments surrounded by various amounts of the epiperitoneal fat. In some places, this tissue separates the components of the fascia and peritoneum complex. The ultrasound manifestation of this complex is two hyperechogenic lines placed parallelly to each other in the places where they are not separated by the accumulated adipose tissue. Another factor which separates the peritoneum from the viscera is of dynamic character. It is a so-called visceral slide induced by easy or deep breathing. Its size should not be lower than 1 cm and the deflections gradually and symmetrically diminish from the epigastric to hypogastric region. Last but not least, the evaluation of the reciprocal relation of the abdominal wall with viscera may be aided by rhythmical manual compressions on the abdominal wall (ballottement sign) performed below the applied ultrasound transducer. During this test, the size of the visceral slide in relation to the abdominal wall is observed. The maneuver is usually performed in uncooperative patients or those with shallow breath. The authors’ own experiences indicate that the effectiveness of the test is increased when lower extremities are moderately bent. This relaxes the muscle tension in the anterior wall of the abdomen. To assess the condition of these structures, linear transducers with the frequency of 5–9 MHz prove the most appropriate. In obese patients, a convex transducer with the frequency of 3.5–5 MHz also may be used. The acoustic focus should be set on the borderline of the abdominal wall and viscera and in order to visualize the changes it might be helpful to use harmonic, compound and XRes imaging. When examining the abdominal wall, the cross and longitudinal sections should be made. The complete evaluation of the visceroperitoneal borderline includes nine segments – three in the epigastrium, three in the mid-abdomen and three in the hypogastrium.Należy podkreślić, że ultrasonografia w ocenie powłok brzusznych i struktur położonych w ich pobliżu odgrywa pierwszoplanową rolę, gdyż pozwala z dużą precyzją określić anatomię i zmiany chorobowe w takiej lokalizacji. Podstawą wszelkich sukcesów diagnostycznych jest dokładna znajomość anatomii ultrasonograficznej badanej struktury, dlatego ta część pracy jest poświęcona właśnie tej tematyce. Możliwość diagnostyki zrostów wewnątrzbrzusznych przy użyciu ultrasonografii jest niedoceniana i mało rozpowszechniona. Celem pracy jest omówienie i udokumentowanie anatomii ultrasonograficznej tylnej powierzchni powłok brzusznych oraz zaprezentowanie techniki badania ukierunkowanego na wykrywanie zrostów, głównie trzewno‑otrzewnowych. Tylna powierzchnia powłok brzusznych to rozległy obszar tkankowy o złożonej budowie, z obecnością fałdów i więzadeł otoczonych różną ilością tłuszczu nadotrzewnowego. Tkanka ta w pewnych miejscach rozdziela składowe kompleksu powięź – otrzewna. Manifestacją sonograficzną tego kompleksu są dwie linie hiperechogeniczne ułożone równolegle względem siebie, tam gdzie nie są oddzielone nagromadzoną tkanką tłuszczową. Drugi czynnik odgraniczający otrzewną od trzewi ma charakter dynamiczny, jest nim tzw. ślizg trzewi wyzwalany swobodnym lub głębokim oddechem. Jego wielkość nie powinna być mniejsza od 1 cm, a wychylenia stopniowo, symetrycznie maleją od nadbrzusza do podbrzusza. Wreszcie do oceny wzajemnego stosunku powłok z trzewiami służy kilkakrotnie powtarzany, rytmiczny ucisk manualny powłok brzusznych (balotowanie) wykonywany poniżej przyłożonej głowicy ultrasonograficznej. W czasie przeprowadzania tej próby obserwuje się wielkość ślizgu trzewi względem powłok; manewr ten wykonuje się przeważnie u pacjentów z płytkim oddechem lub u osób niewspółpracujących. Z własnych doświadczeń wynika, że efektywność próby zwiększa umiarkowane zgięcie kończyn dolnych, co powoduje zwolnienie napięcia mięśni przedniej ściany jamy brzusznej. Do oceny stanu tych struktur najlepiej nadaje się głowica liniowa o częstotliwości 5–9 MHz. U osób otyłych można zastosować głowicę konweksową o częstotliwości 3,5–5 MHz. Ognisko akustyczne usta‑ wia się na granicy powłok i trzewi, a w uwidocznieniu zmian będzie pomocne użycie obrazowania harmonicznego, złożonego i XRes. Badając powłoki, należy wykonywać przekroje podłużne i poprzeczne. Pełna ocena pogranicza trzewno‑otrzewnowego obejmuje dziewięć segmentów – trzy w nadbrzuszu, trzy w śródbrzuszu i trzy w podbrzuszu