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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Śmigiel, Robert ; Biela, Mateusz ; Szmyd, Krzysztof ; [et al.]

MDPI AG ; 2020

In: Journal of Clinical Medicine Vol. 9, No. 7 ( 2020-07-13), p. 2220-

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In: Journal of Clinical Medicine, MDPI AG, Vol. 9, No. 7 ( 2020-07-13), p. 2220-

Abstract: Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5–14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease (NARS1 and DCAF5). R-WES proved to be an effective diagnostic tool for critically ill infants in ICUs suspected of having a genetic disorder. It also should be considered as a first-tier test after precise clinical description. The quickly obtained diagnosis impacts patient’s medical management, and families can receive genetic counseling.

Type of Medium: Online Resource

ISSN: 2077-0383

URL: Article

DOI: 10.3390/jcm9072220

Language: English

Publisher: MDPI AG

Publication Date: 2020

detail.hit.zdb_id: 2662592-1

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Invitation to participate in a multi-center study for validation of cerebral computed tomography angiography and computed tomography perfusion in the determination of cerebral circulatory arrest during brain death/death by neurological criteria diagnosis procedure in paediatric population below 12 years of age

Bohatyrewicz, Romuald ; Sołek-Pastuszka, Joanna ; Walas, Wojciech ; [et al.]

Termedia Sp. z.o.o. ; 2021

In: Anaesthesiology Intensive Therapy Vol. 53, No. 2 ( 2021), p. 97-102

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In: Anaesthesiology Intensive Therapy, Termedia Sp. z.o.o., Vol. 53, No. 2 ( 2021), p. 97-102

Type of Medium: Online Resource

ISSN: 1642-5758

URL: Article

DOI: 10.5114/ait.2021.107189

Language: Unknown

Publisher: Termedia Sp. z.o.o.

Publication Date: 2021

detail.hit.zdb_id: 3043961-9

detail.hit.zdb_id: 2603355-0

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A multicenter randomized controlled trial comparing effectiveness of two nasal continuous positive airway pressure devices in very-low-birth-weight infants

Bober, Klaudiusz ; Świetliński, Janusz ; Zejda, Jan ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2012

In: Pediatric Critical Care Medicine Vol. 13, No. 2 ( 2012-03), p. 191-196

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In: Pediatric Critical Care Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 13, No. 2 ( 2012-03), p. 191-196

Type of Medium: Online Resource

ISSN: 1529-7535

URL: Article

DOI: 10.1097/PCC.0b013e3182231882

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2012

detail.hit.zdb_id: 2070997-3

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Spatial genetic structure of the endemic alpine plant Salix serpillifolia: genetic swamping on nunataks due to secondary colonization?

Kosiński, Piotr ; Sękiewicz, Katarzyna ; Walas, Łukasz ; [et al.]

Springer Science and Business Media LLC ; 2019

In: Alpine Botany Vol. 129, No. 2 ( 2019-10), p. 107-121

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In: Alpine Botany, Springer Science and Business Media LLC, Vol. 129, No. 2 ( 2019-10), p. 107-121

Type of Medium: Online Resource

ISSN: 1664-2201 , 1664-221X

URL: Article

DOI: 10.1007/s00035-019-00224-4

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2019

detail.hit.zdb_id: 2600962-6

SSG: 12

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Gaining a Sense of Touch Object Stiffness Estimation Using a Soft Gripper and Neural Networks

Bednarek, Michal ; Kicki, Piotr ; Bednarek, Jakub ; [et al.]

MDPI AG ; 2021

In: Electronics Vol. 10, No. 1 ( 2021-01-05), p. 96-

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In: Electronics, MDPI AG, Vol. 10, No. 1 ( 2021-01-05), p. 96-

Abstract: Soft grippers are gaining significant attention in the manipulation of elastic objects, where it is required to handle soft and unstructured objects, which are vulnerable to deformations. The crucial problem is to estimate the physical parameters of a squeezed object to adjust the manipulation procedure, which poses a significant challenge. The research on physical parameters estimation using deep learning algorithms on measurements from direct interaction with objects using robotic grippers is scarce. In our work, we proposed a trainable system which performs the regression of an object stiffness coefficient from the signals registered during the interaction of the gripper with the object. First, using the physics simulation environment, we performed extensive experiments to validate our approach. Afterwards, we prepared a system that works in a real-world scenario with real data. Our learned system can reliably estimate the stiffness of an object, using the Yale OpenHand soft gripper, based on readings from Inertial Measurement Units (IMUs) attached to the fingers of the gripper. Additionally, during the experiments, we prepared three datasets of IMU readings gathered while squeezing the objects—two created in the simulation environment and one composed of real data. The dataset is the contribution to the community providing the way for developing and validating new approaches in the growing field of soft manipulation.

Type of Medium: Online Resource

ISSN: 2079-9292

URL: Article

DOI: 10.3390/electronics10010096

Language: English

Publisher: MDPI AG

Publication Date: 2021

detail.hit.zdb_id: 2662127-7

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Structure and optical parameters of Eu doped tellurium oxide thin films prepared by reactive magnetron sputtering method

Łapiński, Marcin ; Walas, Michalina ; Gapska, Anna ; [et al.]

Elsevier BV ; 2019

In: Thin Solid Films Vol. 691 ( 2019-12), p. 137592-

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In: Thin Solid Films, Elsevier BV, Vol. 691 ( 2019-12), p. 137592-

Type of Medium: Online Resource

ISSN: 0040-6090

URL: Article

DOI: 10.1016/j.tsf.2019.137592

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1482896-0

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Attitudes of students at Lublin universities towards transplantation and their personal values

Pawłowski, Piotr ; Chatys, Kalaudia Magdalena ; Ziętara, Karolina Joanna ; [et al.]

Quarterly Journal Fides et Ratio ; 2023

In: Kwartalnik Naukowy Fides et Ratio Vol. 55, No. 3 ( 2023-09-22), p. 176-184

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In: Kwartalnik Naukowy Fides et Ratio, Quarterly Journal Fides et Ratio, Vol. 55, No. 3 ( 2023-09-22), p. 176-184

Abstract: Abstract: Background: Nowadays, transplantation is the only effective method for saving human lives when organs fail. Its choice in clinical practice encounters numerous barriers along the way, related to religious, ethical, social, and moral considerations. Nowadays, there are many changes in the hierarchy of values of young adults, and it is therefore important to analyse their impact on the perception of socio-cultural processes, including transplantation. Aim of the study: To analyse values and their influence on attitudes towards organ transplantation among students at Lublin universities. Material and methods: The study was conducted using a diagnostic survey method, with a survey technique. A self-administered survey questionnaire and a standardised tool List of Personal Values (Lista wartości osobistych, LWO), bearing a label were used. The study involved 205 respondents studying at three universities in Lublin (Medical University, Catholic University of Lublin, Maria Curie–Skłodowska University). Statistical analyses were performed using the SPSS Statistics package. Relationships between attitudes towards transplantation and sociodemographic variables and values were analysed using Kruskal-Wallis H tests and Spearman’s rho correlation coefficient. A graphical presentation of the results was made using summary tables and bar charts. Results and conclusions: Hierarchy of personal values has no influence on attitudes towards transplantation. Age, gender, type of university and religion are not related to students’ attitudes towards the transplant procedure. There are correlations between place of residence and attitude towards religious practice and students’ attitudes towards transplantation.

Type of Medium: Online Resource

ISSN: 2082-7067 , 2082-7067

URL: Article

DOI: 10.34766/fetr.v55i3.1174

Language: Unknown

Publisher: Quarterly Journal Fides et Ratio

Publication Date: 2023

detail.hit.zdb_id: 2700406-5

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On Robustness of Multi-Modal Fusion—Robotics Perspective

Bednarek, Michal ; Kicki, Piotr ; Walas, Krzysztof

MDPI AG ; 2020

In: Electronics Vol. 9, No. 7 ( 2020-07-16), p. 1152-

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In: Electronics, MDPI AG, Vol. 9, No. 7 ( 2020-07-16), p. 1152-

Abstract: The efficient multi-modal fusion of data streams from different sensors is a crucial ability that a robotic perception system should exhibit to ensure robustness against disturbances. However, as the volume and dimensionality of sensory-feedback increase it might be difficult to manually design a multimodal-data fusion system that can handle heterogeneous data. Nowadays, multi-modal machine learning is an emerging field with research focused mainly on analyzing vision and audio information. Although, from the robotics perspective, haptic sensations experienced from interaction with an environment are essential to successfully execute useful tasks. In our work, we compared four learning-based multi-modal fusion methods on three publicly available datasets containing haptic signals, images, and robots’ poses. During tests, we considered three tasks involving such data, namely grasp outcome classification, texture recognition, and—most challenging—multi-label classification of haptic adjectives based on haptic and visual data. Conducted experiments were focused not only on the verification of the performance of each method but mainly on their robustness against data degradation. We focused on this aspect of multi-modal fusion, as it was rarely considered in the research papers, and such degradation of sensory feedback might occur during robot interaction with its environment. Additionally, we verified the usefulness of data augmentation to increase the robustness of the aforementioned data fusion methods.

Type of Medium: Online Resource

ISSN: 2079-9292

URL: Article

DOI: 10.3390/electronics9071152

Language: English

Publisher: MDPI AG

Publication Date: 2020

detail.hit.zdb_id: 2662127-7

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Table4.DOCX

Szurman-Zubrzycka, Miriam E. ; Zbieszczyk, Justyna ; Marzec, Marek ; [et al.]

Frontiers Media SA ; 2018

In: Frontiers in Plant Science Vol. 9 ( 2018-2-21)

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In: Frontiers in Plant Science, Frontiers Media SA, Vol. 9 ( 2018-2-21)

Type of Medium: Online Resource

ISSN: 1664-462X

URL: Article

DOI: 10.3389/fpls.2018.00216

DOI: 10.3389/fpls.2018.00216.s001

DOI: 10.3389/fpls.2018.00216.s002

DOI: 10.3389/fpls.2018.00216.s003

DOI: 10.3389/fpls.2018.00216.s004

DOI: 10.3389/fpls.2018.00216.s005

DOI: 10.3389/fpls.2018.00216.s006

DOI: 10.3389/fpls.2018.00216.s007

Language: Unknown

Publisher: Frontiers Media SA

Publication Date: 2018

detail.hit.zdb_id: 2687947-5

detail.hit.zdb_id: 2613694-6

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Implementation of Computed Tomography Angiography (CTA) and Computed Tomography Perfusion (CTP) in Polish Guidelines for Determination of Cerebral Circulatory Arrest (CCA) during Brain Death/Death by Neurological Criteria (BD/DNC) Diagnosis Procedure

Bohatyrewicz, Romuald ; Pastuszka, Joanna ; Walas, Wojciech ; [et al.]

MDPI AG ; 2021

In: Journal of Clinical Medicine Vol. 10, No. 18 ( 2021-09-18), p. 4237-

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In: Journal of Clinical Medicine, MDPI AG, Vol. 10, No. 18 ( 2021-09-18), p. 4237-

Abstract: Background: Brain death/death by neurologic criteria (BD/DNC) guidelines are routinely analyzed, compared and updated in the majority of countries and are later implemented as national criteria. At the same time, extensive works have been conducted in order to unify clinical procedures and to validate and implement new technologies into a panel of ancillary tests. Recently evaluated computed tomography angiography and computed tomography perfusion (CTA/CTP) seem to be superior to traditionally used digital subtraction angiography (DSA), transcranial Doppler (TCD) and cerebral perfusion scintigraphy for diagnosis of cerebral circulatory arrest (CCA). In this narrative review, we would like to demonstrate scientific evidence supporting the implementation of CTA/CTP in Polish guidelines for BD/DNC diagnosis. Research and implementation process: In the first of our base studies concerning the potential usefulness of CTA/CTP for the confirmation of CCA during BD/DNC diagnosis procedures, we showed a sensitivity of 96.3% of CTA in a group of 82 patients. CTA was validated against DSA in this report. In the second study, CTA showed a sensitivity of 86% and CTP showed a sensitivity of 100% in a group of 50 patients. In this study, CTA and CTP were validated against clinical diagnosis of BD/DNC supported by TCD. Additionally, we propose our CCA criteria for CTP test, which are based on ascertainment of cerebral blood flow (CBF) 〈 10 mL/100 g/min and cerebral blood volume 〈 1 mL/100 g in regions of interest (ROIs) localized in all brain regions. Based on our research results, CTA/CTP methods were implemented in Polish BD/DNC criteria. To our knowledge, CTP was implemented for the first time in national guidelines. Conclusions: CTA and CTP-derived CTA might be in future the tests of choice for CCA diagnosis, proper and/or Doppler pretest might significantly increase sensitivity of CTA in CCA diagnosis procedures. Whole brain CTP might be decisive in some cases of inconclusive CTA. Implementation of CTA/CTP in the Polish BD/DNC diagnosis guidelines does not show any major obstacles. We believe that in next edition of “The World Brain Death Project” CTA and CTP will be recommended as ancillary tests of choice for CCA confirmation during BD/DNC diagnosis procedures.

Type of Medium: Online Resource

ISSN: 2077-0383

URL: Article

DOI: 10.3390/jcm10184237

Language: English

Publisher: MDPI AG

Publication Date: 2021

detail.hit.zdb_id: 2662592-1

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