Complete paternally inherited mitogenomes of two freshwater mussels Unio pictorum and Sinanodonta woodiana (Bivalvia: Unionidae)

Freshwater bivalves from the family Unionidae usually have two very divergent mitogenomes, inherited according to the doubly uniparental model. The early divergence of these two mitogenomic lineages gives a unique opportunity to use two mitogenomic data sets in a single phylogenetic context. However, the number of complete sequences of the maternally inherited mitogenomes of these animals available in GenBank greatly exceeds that of the paternally inherited mitogenomes. This is a problem for phylogenetic reconstruction because it limits the use of both mitogenomic data sets. Moreover, since long branch attraction phenomenon can bias reconstructions if only a few but highly divergent taxa are considered, the shortage of the faster evolving paternally inherited mitogenome sequences is a real problem. Here we provide, for the first time, complete sequences of the M mitogenomes sampled from Polish populations of two species: native Unio pictorum and invasive Sinanodonta woodiana. It increases the available set of mitogenomic pairs to 18 species per family, and allows unambiguous reconstruction of phylogenetic relationships among them. The reconstructions based on M and F mitogenomes which were separated for many millions of years, and subject to differing evolutionary dynamics, are fully congruent

Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families

Freshwater mussels (Bivalvia: Unionidae) from the rising sun (Far East Asia): phylogeny, systematics, and distribution

Freshwater mussels (Bivalvia: Unionidae) is a diverse family with around 700 species being widespread in the Northern Hemisphere and Africa. These animals fulfill key ecological functions and provide important services to humans. Unfortunately, populations have declined dramatically over the last century, rendering Unionidae one of the world’s most imperiled taxonomic groups. In Far East Asia (comprising Japan, Korea, and Eastern Russia), conservation actions have been hindered by a lack of basic information on the number, identity, distribution and phylogenetic relationships of species. Available knowledge is restricted to studies on national and sub-national levels. The present study aims to resolve the diversity, biogeography and evolutionary relationships of the Far East Asian Unionidae in a globally comprehensive phylogenetic and systematic context.We reassessed the systematics of all Unionidae species in the region, including newly collected specimens from across Japan, South Korea, and Russia, based on molecular (including molecular species delineation and a COI + 28S phylogeny) and comparative morphological analyses. Biogeographical patterns were then assessed based on available species distribution data from the authors and previous reference works.We revealed that Unionidae species richness in Far East Asia is 30% higher than previously assumed, counting 43 species (41 native + 2 alien) within two Unionidae subfamilies, the Unioninae (32 + 1) and Gonideinae (9 + 1). Four of these species are new to science, i.e. Beringiana gosannensis sp. nov., Beringiana fukuharai sp. nov., Buldowskia kamiyai sp. nov., and Koreosolenaia sitgyensis gen. & sp. nov. We also propose a replacement name for Nodularia sinulata, i.e. Nodularia breviconcha nom. nov. and describe a new tribe (Middendorffinaiini tribe nov.) within the Unioninae subfamily. Biogeographical patterns indicate that this fauna is related to that from China south to Vietnam until the Mekong River basin. The Japanese islands of Honshu, Shikoku, Kyushu, Hokkaido, and the Korean Peninsula were identified as areas of particularly high conservation value, owing to high rates of endemism, diversity and habitat loss. The genetically unique species within the genera Amuranodonta, Obovalis, Koreosolenaia gen. nov., and Middendorffinaia are of high conservation concern

Design and baseline characteristics of the finerenone in reducing cardiovascular mortality and morbidity in diabetic kidney disease trial

Background: Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. Patients and Methods: The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate >= 25 mL/min/1.73 m(2) and albuminuria (urinary albumin-to-creatinine ratio >= 30 to <= 5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level alpha = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. Conclusions: FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049

IDENTIFICATION OF GENDER-ASSOCIATED MITOCHONDRIAL HAPLOTYPES IN ANODONTA ANATINA (BIVALVIA: UNIONIDAE)

ABSTRACT: Doubly uniparental inheritance (DUI) of mitochondrial DNA, different from maternal inheritance, is known to occur in five bivalve families (Mytilidae, Veneridae, Unionidae, Margaritiferidae, Hyriidae). DUI involves two types of mitochondrial DNA: F type, inherited from the mother and M type, inherited from the father. Females have only F type mtDNA, males have both types, M type being located in their gonads, F type in their somatic tissues. Among freshwater bivalves known to show DUI, only Anodonta woodiana occurs in Poland. The aim of this study was to ascertain if DUI occurred in another native bivalve, Anodonta anatina, based on DNA sequence of mitochondrial gene of cytochrome oxidase subunit I (cox1). M haplotype was found in male gonads, and F haplotype in somatic tissues of both sexes. Seven sequences were obtained for each F and M haplotypes, 625-709 base pairs long. Variation of 0.2 and 0.3% was found within F and M cox1 sequences, respectively, and 29-32% variation between them

Involvement of men - future fathers in the process of expecting the birth of a child and the style of attachment to the partner

Culturally defined traditions describe the tasks of women and men resulting from the fact of having children and the rules that should be subject to pregnancy and childbirth. In the context of the emerging paradigm of masculinity and paternity, there is now a clear tendency to appreciate the role of the father, leading to a significant expansion of his competence, including the area of procreation. Modern fathers are seeking new opportunities for them to engage in the development of their child at the stage of expectation of his birth, thereby confirming and consolidating his social status. The specificity of experiencing the gestation period makes it a fatherly commitment conditioned by the quality of the relationship that connects the partners. One of its determinants is attachment styles, regarded as a resource that is at the disposal of partners, having a patently significant influence on shaping the relationship between them, and thus the level of involvement of future fathers in the development of the conceived child. The research presented in this paper pointed to the existence of positive relationships between safe attachment to the partner and engagement in both general and emotional and behavioral dimensions. In addition, they show the relationship of the engagement with non-secure attachment patterns. Men who were anxiously-ambivalent were more likely to have cognitive performance and, in turn, less likely to be involved in the behavioral engagement

Loop-Mediated Isothermal Amplification (LAMP): The Better Sibling of PCR?

In 1998, when the PCR technique was already popular, a Japanese company called Eiken Chemical Co., Ltd. designed a method known as the loop-mediated isothermal amplification of DNA (LAMP). The method can produce up to 109 copies of the amplified DNA within less than an hour. It is also highly specific due to the use of two to three pairs of primers (internal, external, and loop), which recognise up to eight specific locations on the DNA or RNA targets. Furthermore, the Bst DNA polymerase most used in LAMP shows a high strand displacement activity, which eliminates the DNA denaturation stage. One of the most significant advantages of LAMP is that it can be conducted at a stable temperature, for instance, in a dry block heater or an incubator. The products of LAMP can be detected much faster than in standard techniques, sometimes only requiring analysis with the naked eye. The following overview highlights the usefulness of LAMP and its effectiveness in various fields; it also considers the superiority of LAMP over PCR and presents RT-LAMP as a rapid diagnostic tool for SARS-CoV-2

Chinese pond mussel Sinanodonta woodiana (Lea, 1834) (Bivalvia): origin of the Polish population and GenBank data

<p><span style="font-family: Times New Roman;"><span style="font-size: medium;">D</span></span></p><p>DNA sequences of the mitochondrial <em>cox1</em> gene were analysed in 4 new local populations of <em>Sinanodonta woodiana</em> (Bivalvia) in Poland, in the first reported Polish population, and in a population from Hungary. The gene sequences of Polish specimens were identical to those of specimens from Hungary, Italy and Ukraine, but different from those of Romanian specimens (data from GenBank). According to fish farm documentation, <em>S. woodiana</em> had spread in Poland by 2 routes: i) direct import of fish infected by glochidia of <em>S. woodiana</em> from Hungary; and ii) indirectly, by the major distributor of thermophilous fish in Poland, Gosławice Fish Farm, which started to import Hungarian fish in the 1960s. The genetic analysis and available documentation unambiguously confirm that Polish populations of <em>S. woodiana</em> derive from a source population in Hungary.<strong><em> </em></strong>In addition, we noticed doubtful identification of this species in GenBank data and further research is needed to resolve this problem.</p><p> </p

Conservation status and a novel restoration of the endangered freshwater mussel

Bivalves play an important part in freshwater ecosystems and improve water quality; the thick-shelled river mussel Unio crassus is classified as a bioindicator. Unfortunately, the species is regarded as endangered and is under species protection in the whole of Europe. The reasons for the drastic decline of its populations are: considerable eutrophication of waters, anthropogenic influence in its broad sense and the presence of invasive species. The life cycle of U. crassus includes the stage of larva which is an obligatory parasite of fish. This makes it possible for the species to disperse and populate new territories but it limits the development to places where appropriate host species are available. Intensive measures have been taken in Poland to protect U. crassus, while in France numerous new localities of the species have been bar-coded. In 2010–2014 active protection measures were taken in southern Poland, including inventorying, studies of genetic diversity and reintroductions. The project contributed to the increase in population abundance and in the number of localities of the thick-shelled river mussel, which resulted in a twofold increase in the range of occurrence of the species in the river. The procedures presented here can and should be used in further restitution of U. crassus not only in Poland but also elsewhere in Europe