22 research outputs found

    The Prospects of Organic Agriculture Development in the Chosen Regions of Poland – Podkarpacie and Kurpie

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    Organic farming is developing dynamically in the European Union. In Poland its growth is dynamic but still not on a wide scale. The area of organic farms has just exceeded 1%. Research shows that the main obstacles of the dynamic development of organic farming are lack of properly educated young farmers, lack of efficient distribution system of organic products in Poland and abroad and a lot of small farms of low productivity

    Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene – a case report

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    Craniosynostosis (a premature fusion of the cranial sutures) occurs with a frequency of 1 in 2100–2500 births and in over 40% cases is caused by known genetic factors – either single gene mutations or chromosomal rearrangements. Cases caused by complex chromosomal abnormalities are uncommon and likely associated with compound phenotype. Saethre–Chotzen syndrome (SCS) [#101400] is caused by TWIST1 gene haploinsufficiency. Its phenotype includes uni– or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet. Due to its poor sonographic manifestation a prenatal diagnosis of SCS is challenging. We report a case of a prenatally detected craniosynostosis (compound Saethre–Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3–7p15.3, including TWIST1 gene

    Wykorzystanie krwi matczynej do transfuzji dopłodowych w terapii konfliktu serologicznego na przykładzie trzech trudnych przypadków

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    Maternal alloimmunization can lead to hemolytic anemia, hydrops fetalis and even fetal or neonatal death. Intrauterine treatment is possible and effective even though it is associated with some risk. We present a rare method of maternal blood intrauterine transfusions in the therapy of three difficult cases of erythroblastosis fetalis. The aim of this report was to present an alternative to volunteer donors. In severe cases, i.e. in the absence of matching blood types from the donor, in the presence of multiple alloantibodies in the pregnant woman or if multiple transfusions are required, this can be the only therapeutic option. To the best of our knowledge, this has been the first publication on maternal blood donation for intrauterine transfusion in the Polish literature.Konflikt serologiczny może prowadzić do niedokrwistości hemolitycznej, obrzęku, a nawet śmierci płodu lub noworodka. Skuteczne leczenie wewnątrzmaciczne jest możliwe, choć obarczone ryzykiem powikłań. W pracy zaprezentowano rzadko stosowaną metodę wykorzystania krwi matczynej do transfuzji dopłodowych w terapii trzech trudnych przypadków konfliktu serologicznego, pragnąc zwrócić uwagę na alternatywny sposób pozyskania krwi do przetoczeń dopłodowych. W szczególnie ciężkich przypadkach (brak dostępności zgodnej antygenowo krwi od dawcy, obecność kilku rodzajów przeciwciał przeciw krwinkom czerwonym u matki, konieczność wykonania licznych przetoczeń) może być to jedyna opcja terapeutyczna. Według wiedzy autorów jest to pierwsza publikacja dotycząca tej metody leczenia prezentowana w polskim piśmiennictwie

    Analysis of ultrasonic scans and karyotype of fetuses with holoprosencephaly diagnosed in The Department of Obstetrics & Gynecology of the Postgraduate Center of Medical Education between 1997 & 2005

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    Objectives: The aim of our study was to determine the risk of aneuploidy and associated malformations in fetuses with holoprosencephaly. We have also analyzed the gestational age during the first examination. Design: We have studied ultrasound reports of fetuses with holoprosencephaly. Materials and Methods: We analyzed 33 cases, diagnosed in the course of the last eight years in our center. All fetuses underwent a detailed ultrasound survey and, in most cases, antenatal karyotyping. In all cases the type of holoprosencephaly was assessed Results: In analyzed fetuses alobar holoprosencephaly was diagnosed in 24, semilobar in 7 and lobar holoprosencephaly in 2 cases. Associated anomalies were detected in 28 (mostly face defects) and chromosomal abnormalities in 12 cases. The median gestational age at the first examination was 25 weeks. No more than 14 examinations had been performed before 24 week. Conclusions: Our findings suggest that in case of fetuses with holoprosencephaly, a detailed ultrasound survey and karyotyping are essential to be performed in all cases. For that reason, patients with fetuses with holoprosencephaly should be diagnosed as early as possible in the referral center

    Natural Rubber Latex - Origin, Specification and Application

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    The chapter contains information about the origin of natural rubber latex (NRL) (Hevea brasiliensis) and the processing of field latex, considering quality changes occurring during the preparation of raw materials for distribution. The main types of concentrated natural rubber latex are described. A specification of natural rubber latex (NRL) in terms of key parameters tested by manufacturers and customers is presented. Test methods for verifying if the material meets the requirements of ISO 2004 and internal specifications are described based on standards and commonly used techniques. The next subject touched in the chapter is prevulcanization as the processing of concentrated latex with a change of its properties. One of the main industrial applications of NRL as prevulcanized latex (PV) is the production of dipped goods like gloves or balloons. Currently, some trends and challenges relate to sustainability issues are presented (carbon footprint, FSC)

    Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

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    This article belongs to the Special Issue Novel Insights into Prenatal Genetic Testing.Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.This research was funded by the Ministry of Health, granted to the Center of Postgradu- ate Medical Education, Poland, grant number Minigrant-501-1-106-44-20/MG4 to J.B., and by the National Science Centre, Poland, grant number Miniatura 2—Dec2018/02/X/NZ2/00709 to D.M.info:eu-repo/semantics/publishedVersio

    Nieinwazyjna diagnostyka prenatalna najczęstszych aneuploidii na podstawie płodowego DNA we krwi matki – doniesienie wstępne

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    Objectives: The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping. Material and methods: Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China). Results: Three out of 10 samples showed an abnormal karyotype in traditional karyotyping. There were 9 conclusive NIFTY results. NIFTY detected 1 out of 2 trisomies 18. The quantity of cell-free fetal DNA in maternal plasma in the second probe with trisomy 18 was unsatisfactory for a conclusive NIFTY result. In 1 case traditional karyotyping revealed mosaicism impossible to detect with NIFTY.Cel pracy: Wstępne przedstawienie wyników wykorzystania płodowego DNA z krwi matki w nieinwazyjnej diagnostyce prenatalnej aneuploidii chromosomów 21, 18 i 13 u pacjentek wysokiego ryzyka aberracji chromosomowych u płodu oraz ich porównanie z wynikami klasycznego badania cytogenetycznego. Materiał i metoda: Od dziesięciu ciężarnych pacjentek przed wykonaniem badania inwazyjnego pobrano 10 ml krwi obwodowej celem izolacji pozakomórkowego DNA płodu (cffDNA – cell free fetal DNA) i przeprowadzenia testu NIFTY (Non-Invasive Fetal Trisomy Test; Beijing Genomics Institute, BGI, Shenzen, China). Wyniki: W trzech z dziesięciu próbek w badaniu cytogenetycznym stwierdzono nieprawidłowy kariotyp płodu. Na podstawie płodowego DNA z dziewięciu próbek osocza za pomocą testu NIFTY udało się określić ryzyko aneuploidii u płodu. Wysokie ryzyko aneuploidii prawidłowo oceniono w jednym z dwóch przypadków trisomii chromosomu 18. W drugiej probce podejrzewano wysokie ryzyko trisomii chromosomu 18, ale ilość cffDNA była zbyt mała, aby wynik spełniał standardy producenta. Wykryty w badaniu cytogenetycznym kariotyp mozaikowy z założenia nie mógł zostać wykryty metodą nieinwazyjną. Wnioski: Płodowe DNA z krwi matki może służyć do wykrywania najczęstszych aneuploidii u płodu. Test mógłby posłużyć jako badanie przesiewowe II rzutu, prowadząc do zmniejszenia liczby pacjentek poddawanych badaniu inwazyjnemu

    Professional activities of Kazimiera Zahradniczek and her contribution to the development of nursing

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    Wstęp: Dr Kazimiera Zahradniczek była piątą dyrektorką Krakowskiej Szkoły Pielęgniarek. Swoją postawą i pracą reprezentowała najlepsze wartości zawodu pielęgniarskiego oraz wpisała się w jego rozwój. Kontynuowała również dobre tradycje najstarszej szkoły pielęgniarskiej w Polsce.Cel: Celem pracy jest przedstawienie osoby dr K. Zahradniczek, ukazanie Jej działalności zawodowej i wkładu w rozwój pielęgniarstwa.Materiał i metody: W pracy wykorzystano metodę biograficzną, metodę analizy dokumentów znajdujących się w zbiorach Saloniku Historii Pielęgniarstwa oraz zbiorach prywatnych K. Zahradniczek, metodę analizy piśmiennictwa Jej autorstwa i współautorstwa z lat 1982-2014 oraz metodę sondażu diagnostycznego z zastosowaniem techniki wywiadu nieskategoryzowanego.Wyniki: K. Zahradniczek ukończyła szkołę pielęgniarską w 1959 roku. Od tamtego czasu stale dbała o podnoszenie swoich kwalifikacji, uzyskując kolejne stopnie naukowe, biorąc udział w szkoleniach i konferencjach. Kilkakrotnie pełniła funkcje kierownicze w placówkach kształcących pielęgniarki. Zbiór Jej publikacji obejmuje wiele cennych pozycji, wśród nich pierwszy nowoczesny podręcznik do nauki podstaw pielęgniarstwa. Dzięki Jej staraniom kolejne pokolenia mają szansę zapoznać się z bogatą historią rozwoju pielęgniarstwa na ziemiach krakowskich. Jej aktywna działalność była wielokrotnie zauważana i doceniana.Wnioski: K. Zahradniczek wpisała się w bogatą historię pielęgniarstwa w Krakowie, dbając jednocześnie o jego rozwój, jak i zachowanie tradycji oraz przekazanie jej kolejnym adeptkom sztuki pielęgnowania.Introduction: Kazimiera Zahradniczek, PhD, was the 5th director of Cracow School of Nurses. Her attitude and work represented the best values of the nurse occupation and had her influence on its development. She also continued the good traditions of the oldest nurses school in PolandAim: The aim of the thesis is to present K. Zahradniaczek, PhD, her professional activity and her contribution to the development of nursing.Material and methods: The biographical method, analysis of the documents gathered in the Parlour of the History of the Nursing as well as in the private collections of K. Zahradniczek, analysis of her writings and the writings she co-authored from 1982 to 2014 and the method of diagnostic survey using uncategorized interview were used in the thesis.Results: K. Zahradniczek graduated from the nursing school in 1959. Since then she always improved her qualifications obtaining another academic degrees and taking part in various trainings and conferences. She repeatedly worked as an executive in facilities educating nurses. The collection of her publications contains lots of valuable works, among them the first textbook for learning the basics of nursing. Thanks to her efforts the next generations have chance to get to know the rich history of the development of nursing in Cracow area. Her activity was repeatedly noticed and appreciated.Conclusions: K Zahradniczek contributed to the rich history nursing in Cracow by taking care of its development as well as preservation of the tradition and passing it to the next adepts of the art of nursing
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