Relationship between RNASE1, ANG and RNASE6 gene polymorphism and the values of blood indices in suckling piglets

The relationship between PcR-restriction fragment length polymorphism in RNASE1 (296 A/G), ANG (149 G/T) and RNASE6 (389 C/T) genes and the values of haematological and biochemical blood indices was analysed in crossbred suckling piglets (n = 473), aged 21 ± 3 days (younger, n = 274) and 35 ± 3 days (older, n = 199), descending from Polish Large White × Polish Landrace sows and Duroc × Pietrain boars. The observed distribution of all genotypes was consistent with the Hardy-Weinberg equilibrium. Anaemia was more common in younger piglets with RNASE1 GA genotype but in the blood of older GA piglets a higher count and percentage of granulocytes were noted. This could be related to the destruction of erythrocytes in younger piglets and enhanced host defence in older ones. ANG gene polymorphism was associated with the severity of iron deficiency in younger piglets. This is supposed to be linked with the different ability to protect immune cells against suppression and degradation during iron deficiency. in older piglets, this mutation differentiated the reactivity of the immune system. Varying levels of iron status and red blood cell indices in RNASE6 genotypes presumably resulted from the coupling of genes involved in iron metabolism and expressed in an age-dependent manner

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

Introduction: Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but is usually clinically asymptomatic. The portal hypertension in the course of CHF develops and progresses over time, so an early detection of liver fibrosis remains crucial.Aim: The aim of the study was to evaluate a predictive value of transient elastography for evaluating liver disease progress in pediatric ARPKD patients.Material and Methods: The study group encompassed 21 pediatric patients with ARPKD and 20 healthy children (control group) from The Children's Memorial Health Institute in Warsaw, Poland. Liver fibrosis was determined by assessing the liver stiffness (LS) with transient elastography (FibroScan®, FS) using size-appropriate probes. In ARPKD group the laboratory findings, results of an abdominal ultrasound examination, and an endoscopic gastroduodenoscopy were also analyzed.Results: Compared with healthy controls, patients with ARPKD had significantly increased median LS values (22 vs. 4.25 kPa, p < 0.0001). Based on FS results, ARPKD group was divided into two subgroups: patients (n = 5) with LS results suggestive of no fibrosis or minimal fibrosis (LS < 6.9 kPa, METAVIR fibrosis stage 0–1) and patients (n = 16) with LS results suggestive of at least significant liver fibrosis (LS ≥ 6.9 kPa, METAVIR fibrosis stage 2–4). In the first subgroup (no fibrosis or minimal fibrosis), all patients had no signs of portal hypertension. In the subgroup with at least significant liver fibrosis, splenomegaly was observed in 87.5% of patients and thrombocytopenia in 69% of patients. An endoscopic gastroduodenoscopy was performed in 15 out of 21 ARPKD patients, nine patients (60%) had esophageal varices. All of these patients had LS results suggestive of at least significant liver fibrosis.Conclusions: TE by FibroScan can be used as an additional method for evaluating liver disease progress in pediatric ARPKD patients

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of dopamine and serotonin. Using whole exome sequencing, we have identified a novel homozygous c.989C > T (p.Pro330Leu) variant of AADC causing AADC deficiency. Pro330 is part of an essential structural and functional element: the flexible catalytic loop suggested to cover the active site as a lid and properly position the catalytic residues. Our investigations provide evidence that Pro330 concurs in the achievement of an optimal catalytic competence. Through a combination of bioinformatic approaches, dynamic light scattering measurements, limited proteolysis experiments, spectroscopic and in solution analyses, we demonstrate that the substitution of Pro330 with Leu, although not determining gross conformational changes, results in an enzymatic species that is highly affected in catalysis with a decarboxylase catalytic efficiency decreased by 674- and 194-fold for the two aromatic substrates. This defect does not lead to active site structural disassembling, nor to the inability to bind the pyridoxal 5'-phosphate (PLP) cofactor. The molecular basis for the pathogenic effect of this variant is rather due to a mispositioning of the catalytically competent external aldimine intermediate, as corroborated by spectroscopic analyses and pH dependence of the kinetic parameters. Altogether, we determined the structural basis for the severity of the manifestation of AADC deficiency in this patient and discussed the rationale for a precision therapy

Alder pollen season in selected cities of Poland in 2017

The study compares the alder pollen seasons in Zielona Gora, Poznan, Wroclaw, Opole, Sosnowiec, Cracow, Piotrkow Trybunalski, and Lublin in 2017. The investigations were conducted using the volumetric method. The alder pollen season began between 22nd and 27th February. Maximum daily pollen concentrations were noted on the same date (4–5th March) in all the cities. The greatest risk of allergies caused by the presence of airborne alder pollen was observed in Zielona Gora, Opole, and Piotrkow Trybunalski

The analysis of mugwort pollen count in selected Polish cities in 2014

Celem pracy było porównanie sezonu pyłkowego bylicy w 2014 r. w Bydgoszczy, Krakowie, Lublinie, Piotrkowie Trybunalskim, Poznaniu, Sosnowcu, Szczecinie i Warszawie. Pomiary stężenia pyłku prowadzono metodą objętościową z zastosowaniem aparatów Burkard oraz Lanzoni. Sezon pyłkowy wyznaczono jako okres, w którym w powietrzu występuje 98% rocznej sumy ziaren pyłku. Indeks SPI obliczono jako sumę średnich dobowych stężeń pyłku w danym sezonie. Sezon pyłkowy bylicy najwcześniej (13 czerwca) rozpoczął się w Szczecinie, a najpóźniej (15 lipca) – w Lublinie i Warszawie. Zanotowano znaczne różnice w czasie trwania sezonu. Najwyższe wartości stężeń zaobserwowano w Poznaniu, maksymalne stężenie wynoszące 172 z/m3 zarejestrowano 19 sierpnia. Maksymalne wartości sezonowe koncentracji pyłku we wszystkich miastach wystąpiły między 27 lipca a 19 sierpnia.The aim of the study was to compare the pollen season of mugwort in the cities of Bydgoszcz, Cracow, Lublin, Piotrków Trybunalski, Poznań, Sosnowiec, Szczecin and Warsaw in 2014. Measurements were performed by the volumetric method (Burkard and Lanzoni pollen sampler). Pollen season was defined as the period in which 98% of the annual total catch occurred. Seasonal Pollen Index (SPI) was estimated as the annual sum of daily average pollen concentrations. The pollen season of mugwort started first in Szczecin, on the 13th of June, and at the latest – on the 15th of July – in Lublin and Warsaw. The differences of pollen seasons duration were considerables. The highest record airborne concentration of 172 pollen grains/m3 was noted in Poznań on the 19th of August. The maximum values of seasonal pollen count occurred between 27th of July and 19th of August in all cities

Analysis of the willow pollen seasons in the selected Polish cities in 2014

Celem pracy była analiza sezonów pyłkowych wierzby w 13 punktach pomiarowych w Polsce w 2014 r. Zastosowano wolumetryczną metodę oznaczeń, parametry sezonu pyłkowego oceniono za pomocą metod statystyki opisowej. Zaobserwowano, że we wszystkich analizowanych miastach sezony pyłkowe rozpoczęły się w połowie marca i trwały średnio 1,5 miesiąca. Stwierdzono różnice w maksymalnym stężeniu dobowym i wartości sezonowego indeksu pylenia (SPI) pomiędzy punktami pomiarowymi. Najniższą wartość SPI odnotowano we Wrocławiu, natomiast w Krakowie – wartość ok. 10-krotnie wyższą. W większości ośrodków występowała wyraźna fluktuacja wysokich i niskich stężeń podczas sezonu pyłkowego, jedynie w Krakowie stwierdzono wyraźny okres wysokich stężeń.The aim of the study was to analyse the willow pollen seasons in 13 monitoring stations in Poland in 2014. The volumetric method of sampling was used. The estimation of the seasonal parameters was based on the descriptive statistics. All pollen seasons started in the part of March and lasted about 1,5 months. The clear difference among study sites were found in case of maximum concentration and SPI value. The lowest SPI value was achieved in Wroclaw, while the SPI in Cracow was 10 times higher. In the most of centres the fluctuation of high and low daily concentrations during the pollen seasons was observed. Only in Cracow, the clear period of higher concentrations was indicated

Zagrożenia zdrowotne wśród dzieci i młodzieży. T. 3

Praca recenzowana / Peer-reviewed pape

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

Context: Patients with resistance to thyroid hormone (TH) α (RTHα) are characterized by growth retardation, macrocephaly, constipation, and abnormal thyroid function tests. In addition, almost all RTHα patients have mild anemia, the pathogenesis of which is unknown. Animal studies suggest an important role for TH and TH receptor (TR)α in erythropoiesis. Objective: To investigate whether a defect in TRα affects the maturation of red blood cells in RTHα patients. Design, Setting, and Patients: Cultures of primary human erythroid progenitor cells (HEPs), from peripheral blood of RTHα patients (n = 11) harboring different inactivating mutations in TRα (P398R, F397fs406X, C392X, R384H, A382fs388X, A263V, A263S), were compared with healthy controls (n = 11). During differentiation, erythroid cells become smaller, accumulate hemoglobin, and express different cell surface markers. We assessed cell number and cell size, and used cell staining and fluorescence-activated cell sorter analysis to monitor maturation at different time points. Results: After ∼14 days of ex vivo expansion, both control and patient-derived progenitors differentiated spontaneously. However, RTHα-derived cells differentiated more slowly. During spontaneous differentiation, RTHα-derived HEPs were larger, more positive for c-Kit (a proliferation marker), and less positive for glycophorin A (a differentiation marker). The degree of abnormal spontaneous maturation of RTHα-derived progenitors did not correlate with severity of underlying TRα defect. Both control and RTHα-derived progenitors responded similarly when differentiation was induced. T3 exposure accelerated differentiation of both control- and RTHα patient-derived HEPs. Conclusions: Inactivating mutations in human TRα affect the balance between proliferation and differentiation of progenitor cells during erythropoiesis, which may contribute to the mild anemia seen in most RTHα patients.A.L.M.v.G., M.E.M., and R.P.P. are supported by ZonMWTOP Grant 91212044 and an Erasmus MC Medical Research Advisory Committee (MRACE) grant. A.L.M.v.G. and R.P.P. are also supported by a European Thyroid Association (ETA) research grant. K. Chatterjee is supported by Wellcome Trust Investigator Award 095564/Z/11/Z. K. Chatterjee and C.M. are supported by the National Institute for Health Research Cambridge Biomedical Research Centre

Interdyscyplinarna opieka nad pacjentem z chorobą nowotworową

Praca recenzowana / peer-reviewed paperZ przyjemnością przekazujemy Państwu kolejny tom monografii Interdyscyplinarna opieka nad pacjentem z chorobą nowotworową, która powstała przy współpracy Polskiego Stowarzyszenia Pielęgniarek Onkologicznych z Wydziałem Zdrowia i Nauk Medycznych Krakowskiej Akademii im. Andrzeja Frycza Modrzewskiego. Problematyka przedstawiona w publikacji dotyczy wieloaspektowej opieki nad chorym na nowotwór. Opracowania są doniesieniami z badań naukowych, w których autorzy przedstawiają wnioski i kierunki działań dla praktyków. Równie dużą wartość mają rozdziały, w których praktycy dzielą się swoją wiedzą i doświadczeniem z pracy z chorymi i ich rodzinami. Tematyka monografi i dotyczy m.in.: edukacji zdrowotnej, komunikowania się, opieki nad chorym poddawanym chemioterapii, leczeniu chirurgicznemu, radioterapii i rehabilitacji. Pragniemy, aby ta książka swoją merytoryczną zawartością stała się istotnym wkładem w uczczenie tak ważnych dla pielęgniarstwa rocznic, obchodzonych w 2011 r

Slavic onomatopoeic word‑family based on the root morpheme *gra-. Word‑formation and semantic

Words containing the sound imitation element *gra-, extracted from dictionaries of all Slavic languages and dialects are presented. Their word‑forming development is discussed from interjection through verbs calling the making of this interjection or sounds reminiscent of it, to the names of the activist, i.e. the person who makes this interjection. Then the semantic development of the discussed words is presented. The basic meaning is ‘voice of a crow’, from which the utterance of such or similar voice developed, and then the name of the one who uttered that voice. The second basic meaning in this word family is the sound of something heavy falling on a hard surface. In addition to these basic meanings, which result directly from the association with the sound heard as a gra-, there are more than a dozen secondary meanings, developed in different directions from the basic ones. Formally, this family of words is model. In terms of semantic, however, it is very extensive. A comparative method was used