When languagees meet – about problems with naming some group of phenomena. Around the texts written in the 15th century in Silesia region

Artykuł podkreśla potrzebę nowych badań tekstów do tej pory charakteryzowanych jako "polskie" lub "mieszane", powstałych w XV w. na Śląsku, i osadza problem w kontekście europejskim. Autorka wskazuje problemy stwarzane przez tak stary i trudny do interpretacji materiał, na które składają się m.in. wielowarstwowość tekstów średniowiecznych, ich anonimowość, bliskie pokrewieństwo języków polskiego i czeskiego oraz trudności z przypisaniem literze reprezentacji fonetycznej

Średniowieczny »Život Krista Pána« wobec »Meditationes vitae Christi«

The article is an attempt to revise a popular in Czech medieval studies opinion, that preserved from 14th century Život Krista Pána (ŽKP) in its first part is based on Meditationes vitae Christi (MVC), Latin treatise for long time attributed to st. Bona- venture, or that ŽKP is an adaptation or translation of MVC. The author compares the convergent fragments of these texts with the sources of Meditationes vitae Christi and discusses similarities and differences between all of them. She also indicates some differences in the composition of ŽKP and MVC. Finally, she argues that the relationship between these two texts may be slightly different than previously claimed

W stronę badań słowiańskich kontekstów staropolskich apokryfów (2). Sposoby wprowadzania przytoczeń w Životě Krista Pána oraz Żywocie Pana Jezu Krysta Baltazara Opeca

The aim of the article is to observe the similarities and differences concerning the formation of text by the writers of two Slavic Biblical-apocryphal narrations based on the analyses of the means of introduction of quotations in the Czech Život Krista Pána and in the Polish Żywot Pana Jezu Krysta by Baltazar Opec. The author of the article demonstrates that the texts were written at a similar stage of development of both vernacular languages and, consequently, they include structures at different levels of complexity – indirect speech coexists with direct speech and intermediate forms. The author indicates the differences and similarities in the way the metatext is constructed. For example, she contends that the author of ŽKP used direct speech much more often, introduced quotations serving as a commentary on specific events differently (e.g., from the Bible or Church Fathers), used different patterns when introducing the utterances of the protagonists of the story. Also, the author of the article shows that the quotations intertwined in the story Żywot Pana Jezu Krysta were more expensively modified in comparison to ŽKP. Moreover, the repertoire of structures used for the inclusion of reported speech into the main narration is richer in the Polish text

W stronę badań słowiańskich kontekstów staropolskich apokryfów (1) O czeskiej podstawie fragmentu Rozmyślania przemyskiego

The goal of this article is to provide evidence that the author of Rozmyślanie przemyskie resorted to non-Latin written sources when writing his apocrypha. The author of this article has analysed the parts of the oldest Czech version of Život Krista Pána and the analogical parts of Rozmyślanie przemyskie and has indicated the similarities and records which undoubtedly result from an erroneous interpretation or the translator’s wrong understanding of the sense of the Czech version. Therefore evidence has been provided that the Polish version of the apocrypha was based also on the Czech source. By excluding a possibility of the author resorting directly to the full version of the Czech apocrypha (rather, he included into the narration a Czech sermon or a piece of Život Krista Pána which existed as a separate text), the author of the article suggests that the Polish Biblical apocrypha be viewed with respect to the Czech texts

The phenomenon of the fifteenth-century rota’s judicial oaths of Kościan. The lexical replacements

Artykuł dotyczy wyjątkowego zabytku języka polskiego, jakim są średniowieczne roty kościańskie – jedyne zapiski tego typu, których część zachowała się w podwójnych redakcjach, brudnopisach i czystopisach. Sytuacja taka pozwala na badanie m. in. tego, w jaki sposób w średniowiecznych kancelariach pracowano nad tekstem przysięgi. Autorkę interesują wymiany leksykalne (autosemantycznych leksemów niewspółrdzennych). Zestawiając ze sobą odpowiedniki brudno- i czystopisowe, pokazuje charakter danej zmiany i próbuje rekonstruować motywy, dla których zostały one wprowadzone.The article focuses on lexical replacements, derived from the fifteenth-century polish rote sentences, written in Kościan (Wielkopolska). The case of this short notes remains unprecedented in the history of Old Polish language – about 370 sentences survives in two wordings: draft and fair copy; partially written and re-written by the same hand. Comparing equivalents from drafts and fair copies, the author shows the nature of these replacements and tries to reconstruct the motives for which they were introduced

Kontakty polsko-czeskie na tle literatury psałterzowo-biblijnej

The article makes an attempt to verify the theses concerning the kind of dependence of the Old-Polish Psalms and Psalters from the Czech Psalters. By juxtaposing the Latin texts of Psalms and the Old-Polish and Czech translations (here mainly Psalm 50 from the so-called Page of Medyka and St. Florian’s Psalter), the authors demonstrate that – firstly – the voices from the Page of Medyka are not (as contended by Stanisław Rospond) an evidence of “fine tuning” of the text of Psalm 50 from Kmed to the translation of this Psalm from the remaining Old-Polish Psalters, and they may have been a result of contact of the glossator with the Czech text (in the written or verbalized form); secondly – that the similarities of the Polish and Czech Psalters are not necessarily the result of the difficulties connected with translation into Polish or lack of translator’s professional skills. The conducted analyses justify the thesis that the translator of, for example, St. Florian’s Psalter rather made use of individual words or constructions present in Czech Psalters as successive versions of expressing the same contents; what is more, in some cases the similarities prove to be only apparent

Wpływ występowania allelu klasy III VNTR genu INS na parametry auksologiczne, stężenie glukozy, insuliny, lipidów i adipocytokin u przeddojrzewaniowych dzieci urodzonych z niską masą ciała

  Introduction: The insulin gene variable number of tandem repeats (INS VNTR) class III allele has been implicated in lower birth weight, obesity, and insulin resistance. We assessed its influence on birth weight in the Polish population and on the current body mass and metabolic profile in prepubertal children born small for gestational age (SGA). Material and methods: DNA for genotyping of INS VNTR was available for 123 subjects born SGA and 132 born appropriate for gestational age (AGA). We identified two alleles: class I and class III. Next, in 112 prepubertal (aged: 6.8 ± 1.38 years) SGA children, the auxological measurements, fasting serum C-peptide, triglycerides, cholesterol, ghrelin, leptin, adiponectin, resistin, cortisol, and insulin-like growth factor type I (IGF-I) concentrations, as well as glucose and insulin during oral glucose tolerance test (OGTT), were assessed and insulin resistance indices were calculated. The results were analysed depending on INS VNTR variants. Results: The occurrence of individual INS VNTR variants were similar in the SGA and AGA groups. In prepubertal SGA children, we did not observe any statistical differences as regards birth weight, body mass, lipids, or adipocytokine concentrations among I/I, I/III, and III/III class groups. The concentration of insulin in 120’ of OGTT was significantly higher in class III homozygous than in class I homozygous individuals. Conclusions: Variant INS VNTR class III was shown not to be associated in any essential way with birth weight in the Polish population. Among prepubertal SGA children, the presence of INS VNTR class III is related to higher insulin secretion during OGTT. (Endokrynol Pol 2016; 67 (6): 585–591)    Wstęp: Sugeruje się, że występowanie allelu klasy III fragmentu różnej liczby tandemowych powtórzeń (VNTR) genu insuliny (INS) przyczynia się do niższej masy urodzeniowej oraz rozwoju otyłości i insulinooporności. Autorzy ocenili wpływ tego wariantu na masę urodzeniową w populacji polskiej oraz na masę ciała i profil metaboliczny u przeddojrzewaniowych dzieci urodzonych ze zbyt niską masą ciała (SGA). Materiały i metody: Oceniono polimorfizm INS VNTR u 123 osób z SGA i 132 urodzonych z prawidłową masą ciała (AGA). Identyfikowano dwa alelle VNTR: klasy I i klasy III. Następnie wyodrębiono grupę 112 przeddojrzewaniowych dzieci z SGA (w wieku 6,8 ± 1,38 lat), u których wykonano pomiary auksologiczne oraz oznaczono stężenie: C-peptydu, triglicerydów, cholesterolu, greliny, leptyny, adiponektyny, rezystyny, kortyzolu i insulinopodobnego czynnika wzrostu typu I (IGF-I), jak również oceniono stężenie glukozy i insuliny podczas doustnego testu tolernacji glukozy (OGTT). Obliczono wskaźniki insulinooporności. Wyniki przeanalizowano w zależności od występowania typu polimorfizmu INS VNTR. Wyniki: Częstość występowania poszczególnych wariantów INS VNTR nie różniła się w grupie AGA i SGA. U przeddojrzewaniowych dzieci z SGA nie obserwowano istotnych różnic w odniesieniu do ich urodzeniowej masy ciała, aktualnej masy ciała, stężenia lipidów i adipocytokin w zależności od występowania klasy I/I, I/III czy III/III. Stężenie insuliny w 120. minucie OGTT było istotnie wyższe u homozygotycznych dzieci z klasą III niż u homozygotycznych dzieci z klasą I. Wnioski: Wariant INS VNTR klasy III nie wydaje się być przyczyną niskiej urodzeniowej masy ciała (SGA) w populacji dzieci polskich. Wśród przeddojrzewaniowych dzieci z SGA, obecność klasy III INS VNTR wiąże się z wyższym wydzielaniem insuliny podczas OGTT. (Endokrynol Pol 2016; 67 (6): 585–591)

Atypowe cechy fenotypowe u nosicieli nowej mutacji nonsens Q248X w genie HNF1B

Introduction: Hepatocyte transforming factor 1B-maturity onset diabetes mellitus of the young (HNF1B-MODY) is an autosomal dominant type of monogenic diabetes caused by a mutation in the gene encoding hepatocyte nuclear factor 1beta (HNF-1beta). The aim of this study was to determine if a HNF1B gene mutation was responsible for a dominantly inherited form of diabetes mellitus among the members of a three-generation Polish family. Material and methods: The index subject was a 13-year-old boy with metabolic syndrome, spina bifida occulta, posterior urethral valves, congenital ureteropelvic junction obstruction, and a family history of diabetes of autosomal dominant trait of inheritance. We performed clinical and laboratory examinations of his family and sequenced the HNF1B gene. Results: A novel Q248X mutation (nucleotide C to T transition at position 742 of the exon 3 of HNF1B gene, resulting in stop codon formation) was identified. Phenotypes of family members sharing this mutation are highly variable, and include previously known abnormalities of the urinary system and pancreas, diabetes mellitus of variable onset and severity, hyperinsulinaemia, insulin resistance, metabolic syndrome, elevated aminotransferases, hyperbilirubinemia, hyperamylasemia, short stature and cataracts. To the best of our knowledge, spina bifida occulta, pectus carinatum, and splenomegaly have not been previously reported. Conclusions: Our results broaden the spectrum of HNF1B gene mutations and HNF1B-MODY-related phenotypes. Wstęp: Cukrzyca HNF1B-MODY dziedziczona w sposób autosomalnie dominujący jest rodzajem cukrzycy monogenowej, którą powoduje mutacja w genie HNF1B (hepatocyte transforming factor 1B). Celem pracy było zbadanie czy mutacja w HNF1B jest przyczyną występowania cukrzycy w trzech pokoleniach polskiej rodziny. Materiał i metody: Przeprowadzono ocenę kliniczną i laboratoryjną oraz sekwencjonowanie genu HNF1B trzynastoletniego chłopca z zespołem metabolicznym, rozszczepem kręgosłupa, zastawkami cewki tylnej i wrodzonym zwężeniem moczowodu oraz obciążonym wywiadem rodzinnym w kierunku cukrzycy. Ze względu na wywiad rodzinny o autosomalnie dominującym sposobie dziedziczenia cukrzycy zbadano również członków jego rodziny. Wyniki: Stwierdzono obecność nowej mutacji Q248X będącej skutkiem przeniesienia nukleotydu C na miejsce T w pozycji 742 eksonu 3 genu HNF1B i powstaniem kodonu stop. Cechy fenotypowe członków rodziny będących nosicielami tej mutacji okazały być się bardzo zróżnicowane, a niektóre z nich takie jak spina bifida occulta, pectus carinatum i splenomegalia nie były dotychczas opisywane. Wnioski: Wyniki poszerzają spectrum mutacji genu HNF1B oraz związanych z nimi cech fenotypowych cukrzycy HNF1B-MODY

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors present a child with diabetes manifesting with ketoacidosis during the neonatal period, born in a large family with ten members bearing a heterozygous p.Gly223Ser mutation in GCK. DNA sequencing and multiplex ligation-dependent probe amplification were used to confirm GCK mutation and exclude other de novo mutations in other known genes associated with monogenic diabetes. Continuous glucose monitoring (CGM) was used to assess daily glycemic profiles. At the onset of diabetes the child had hyperglycemia 765 mg/dl with pH 7.09. Her glycated hemoglobin level was 8.6% (70.5 mmol/mol). The C-peptide level was below normal range (<0.5 pmol/ml) at onset, and the three- and 6-month follow-up examinations. Current evaluation at age 3 still showed unsatisfactory metabolic control with HbA1c level equal to 8.1% (65.0 mmol/mol). CGM data showed glucose concentrations profile similar to poorly controlled type 1 diabetes. The patient was confirmed to be heterozygous for the p.Gly223Ser mutation and did not show any point mutations or deletions within other monogenic diabetes genes. Other family members with p.Gly223Ser mutation had retained C-peptide levels and mild diabetes manageable with diet (five individuals), oral hypoglycemizing agents (five patients), or insulin (one patient). This mutation was absent within all healthy family members. Heterozygous mutations of the GCK gene may result in neonatal diabetes similar to type 1 diabetes, the cause of such phenotype variety is still unknown. The possibility of other additional, unknown mutations seems to be the most likely explanation for the unusual presentation of GCK-MODY

Less but better : cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level

Patients with diabetes caused by single-gene mutations generally exhibit an altered course of diabetes. Those with mutations of the glucokinase gene (GCK-MODY) show good metabolic control and low risk of cardiovascular complications despite paradoxically lowered high-density lipoprotein (HDL) cholesterol levels. In order to investigate the matter, we analyzed the composition of low-density lipoprotein (LDL) and HDL subpopulations in such individuals. The LipoPrint(©) system (Quantimetrix, USA) based on non-denaturing, linear polyacrylamide gel electrophoresis was used to separate and measure LDL and HDL subclasses in fresh-frozen serum samples from patients with mutations of glucokinase or HNF1A, type 1 diabetes (T1DM) and healthy controls. Fresh serum samples from a total of 37 monogenic diabetes patients (21 from GCK-MODY and 16 from HNF1A-MODY), 22 T1DM patients and 15 healthy individuals were measured in this study. Concentrations of the small, highly atherogenic LDL subpopulation were similar among the compared groups. Large HDL percentage was significantly higher in GCK-MODY than in control (p = 0.0003), T1DM (p = 0.0006) and HNF1A-MODY groups (p = 0.0246). Patients with GCK-MODY were characterized by significantly lower intermediate HDL levels than controls (p = 0.0003) and T1DM (p = 0.0005). Small, potentially atherogenic HDL content differed significantly with the GCK-MODY group showing concentrations of that subfraction from control (p = 0.0096), T1DM (p = 0.0193) and HNF1A-MODY (p = 0.0057) groups. Within-group heterogeneity suggested the existence of potential gene–gene or gene–environment interactions. GCK-MODY is characterized by a strongly protective profile of HDL cholesterol subpopulations. A degree of heterogeneity within the groups suggests the existence of interactions with other genetic or clinical factors