Konsensuální doporučení ČNHP (Českého národního hemofilického programu) pro diagnostiku a léčbu pacientů s vrozenou hemofilií a s inhibitorem FVIII/FIX

Cílem standardu je stanovit základní diagnostické a především terapeutické postupy v péči o pacienty s vrozenou hemofilií a s inhibitorem koagulačního faktoru VIII, resp. faktoru IX.The aim of the guidelines is to set-up and standardize diagnostic as well as therapeutic approaches to care about patients with congenital haemophilia and inhibitors to coagulation factor VIII or factor I

Evolutionary Trends of the Pharyngeal Dentition in Cypriniformes (Actinopterygii: Ostariophysi)

International audienceBACKGROUND: The fish order Cypriniformes is one of the most diverse ray-finned fish groups in the world with more than 3000 recognized species. Cypriniformes are characterized by a striking distribution of their dentition: namely the absence of oral teeth and presence of pharyngeal teeth on the last gill arch (fifth ceratobranchial). Despite this limited localisation, the diversity of tooth patterns in Cypriniformes is astonishing. Here we provide a further description of this diversity using X-ray microtomography and we map the resulting dental characters on a phylogenetic tree to explore evolutionary trends. RESULTS: We performed a pilot survey of dental formulae and individual tooth shapes in 34 adult species of Cypriniformes by X-ray microtomography (using either conventional X-ray machine, or synchrotron microtomography when necessary) or by dissecting. By mapping morphological results in a phylogenetic tree, it emerges that the two super-families Cobitoidea and Cyprinoidea have followed two distinct evolutionary pathways. Furthermore, our analysis supports the hypothesis of a three-row dentition as ancestral for Cyprinoidea and a general trend in tooth row reduction in most derived lineages. Yet, this general scheme must be considered with caution as several events of tooth row gain and loss have occurred during evolutionary history of Cyprinoidea. SIGNIFICANCE: Dentition diversity in Cypriniformes constitutes an excellent model to study the evolution of complex morphological structures. This morphological survey clearly advocates for extending the use of X-ray microtomography to study tooth morphology in Cypriniformes. Yet, our survey also underlines that improved knowledge of Cypriniformes life traits, such as feeding habits, is required as current knowledge is not sufficient to conclude on the link between diet and dental morphology

Heparinem indukovaná trombocytopenie po totální endoprotéze kolenního kloubu

Heparinem indukovaná trombocytopenie je vzácnou komplikací léčby jak nefrakcionovaným heparinem (UFH), tak nízkomolekulárním heparinem (LMWH). Protilátky proti komplexu heparin-trombocytový faktor 4 hrají hlavní úlohu v patogenezi, při které dochází k aktivaci trombocytů, koagulace, endotelu, monocytů, neutrofilů a následnému vysoce protrombotickému stavu. Výsledkem protrombotického stavu může být nejen žilní, ale i arteriální trombóza v různých lokalizacích (kromě žilní tromboembolické nemoci může být přítomná akutní končetinová ischemie, akutní infarkt myokardu, ischemická cévní mozková příhoda, exantém včetně nekrotizujících lézí). Pokud není HIT adekvátně léčena, může být fatální až u 10% pacientů. Pro včasnou diagnostiku je nutná kombinace skóre 4T a diagnostických laboratorních testů na HIT. Okamžité přerušení léčby heparinem (UFH, LMWH) a přechod na nehepararinová antikoagulancia (fondaparinux, bivalirudin, argatroban nebo v některých situacích DOAC) jsou při léčbě HIT zásadní. Kazuistika popisuje pacientku po primární náhradě kolena, komplikovaného rozvojem HIT bez známek žilní tromboembolické choroby. Před operací byl pacientce podán nadroparin kvůli paroxysmální fibrilaci síní, po vzniku HIT byla antikoagulace upravena na fondaparinux a následně po normalizaci počtu trombocytů na warfarin.Heparin-induced thrombocytopenia is a rare complication of treatment with both unfractionated heparin (UFH) and low molecular weight heparin (LMWH). Antibodies against the complex heparin-platelet factor 4 are the main cause of pathogenesis, resulting in the activation of thrombocytes, coagulation, endothelium, monocytes, neutrophils and subsequent highly prothrombotic state. The prothrombotic state can result not only in venous but also in arterial thrombosis at different locations (which is manifested apart from venous thromboembolic disease also by acute limb ischemia, acute myocardial infarction, ischemic stroke, skin necrotizing lesion exanthema). If HIT is not adequately treated, it may be fatal in up to 10% of patients. For early diagnosis, a combination of 4T scores and diagnostic lab tests for HIT is required. Immediate discontinuation of heparin therapy (UFH, LMWH) and switching to non-heparin anticoagulants (fondaparinux, bivalirudin, argatroban or in some situations DOACs) are essential in HIT treatment. The case report describes the patient after primary knee replacement, complicated by the development of HIT with no evidence of venous thromboembolic disease. Preoperatively, the patient was administrated nadroparin due to paroxysmal atrial fibrillation, after the development of HIT, anticoagulation was modified to fondaparinux and subsequently to warfarin after the platelet count normalization

Families of Cobitoidea (Teleostei; Cypriniformes) as revealed from nuclear genetic data and the position of the mysterious genera Barbucca, Psilorhynchus, Serpenticobitis and Vaillantella

10.1016/j.ympev.2007.02.019Molecular Phylogenetics and Evolution4431358-1365MPEV

Phylogeny of the Southeast Asian freshwater fish genus Pangio (Cypriniformes; Cobitidae)

10.1016/j.ympev.2011.08.003Molecular Phylogenetics and Evolution613854-865MPEV

Data from: Hybrid asexuality as a primary postzygotic barrier between nascent species: on the interconnection between asexuality, hybridization and speciation

Although sexual reproduction is ubiquitous throughout nature, the molecular machinery behind it has been repeatedly disrupted during evolution, leading to the emergence of asexual lineages in all eukaryotic phyla. Despite intensive research, little is known about what causes the switch from sexual reproduction to asexuality. Interspecific hybridization is one of the candidate explanations but the reasons for the apparent association between hybridization and asexuality remain unclear. In this study we combined cross-breeding experiments with population genetic and phylogenomic approaches to reveal the history of speciation and asexuality evolution in European spined loaches (Cobitis). Contemporary species readily hybridize in hybrid zones, but produce infertile males and fertile but clonally reproducing females that cannot mediate introgressions. However, our analysis of exome data indicates that intensive gene flow between species has occurred in the past. Crossings among species with various genetic distances showed that, while distantly related species produced asexual females and sterile males, closely related species produce sexually reproducing hybrids of both sexes. Our results suggest that hybridization leads to sexual hybrids at the initial stages of speciation, but as the species diverge further, the gradual accumulation of reproductive incompatibilities between species could distort their gametogenesis towards asexuality. Interestingly, comparative analysis of published data revealed that hybrid asexuality generally evolves at lower genetic divergences than hybrid sterility or inviability. Given that hybrid asexuality effectively restricts gene flow, it may establish a primary reproductive barrier earlier during diversification than other ‘classical’ forms of postzygotic incompatibilities. Hybrid asexuality may thus indirectly contribute to the speciation process