Publications by authors named "Zawadzki C"

Despite being one of the better-surveyed regions in Brazil, the upper Rio Paraná basin still reveals relatively numerous large new species of fish. Here, we present a new uniquely colored species of the highly diverse, armored catfish genus Hypostomus. The new species was mostly found in the Rio Grande basin, plus a single record in the main channel of the Rio Paraná.

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Article Synopsis
  • Type 2 Normandy von Willebrand disease (VWD2N) is generally seen as a mild bleeding disorder treatable with desmopressin (DDAVP), but the genetic variations among patients, especially the common variant p.Arg854Gln (R854Q), can significantly influence disease severity and treatment response.
  • A study involving 123 VWD2N patients analyzed their phenotype and DDAVP response based on genotype, revealing that those with R854Q alleles exhibited different clinical outcomes and bleeding symptoms compared to those without.
  • The findings indicate that genetic factors, particularly the presence of the R854Q variant, affect factor VIII levels and the efficacy of DDAVP, highlighting the importance of tailored treatment approaches for V
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Background: No F8 genetic abnormality is detected in approximately 1% to 2% of patients with severe hemophilia A (HA) using conventional genetic approaches. In these patients, deep intronic variation or F8 disrupting genomic rearrangement could be causal.

Objectives: The study aimed to identify the causal variation in families with a history of severe HA for whom genetic investigations failed.

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In fish species, heterochromatinization is one process that could trigger sex chromosome differentiation. The present article describes a nascent XX/XY sex chromosome system evidenced by heterochromatin accumulation and microsatellite (GATA) in from two populations of the Paraná River basin. The specimens of from the Campo and Bossi Rivers share the same karyotype.

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Scientific visits to ichthyological collections revealed a potentially new species of Hypostomus from the Rio Tocantins basin. From there, subsequent ichthyological surveys led us to capture the taxon in the upper portion of this basin and address it to the H. punctatus group.

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A lab-on-a-chip multichannel sensing platform for biomedical analysis based on optical silicon nitride (SiNx) microring-resonators (MRR) was established. The resonators were surface functionalized and finally combined with a microfluidic chamber for validation using an avidin-biotin ligand-binding assay. The results with a limit of detection (LOD) of 2.

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Background: Although thrombotic thrombocytopenic purpura frequently affects women of childbearing age, there is no clear recommendation for the management of subsequent pregnancies in women with established thrombotic thrombocytopenic purpura.

Methods: This single-center, retrospective, observational study included all women with hereditary thrombotic thrombocytopenic purpura or immune thrombotic thrombocytopenic purpura who had had at least one subsequent pregnancy after thrombotic thrombocytopenic purpura diagnosis between 2003 and 2022. The strategy comprised weekly surveillance of platelet count during pregnancy (and quarterly monitoring of ADAMTS13 activity) for women with immune thrombotic thrombocytopenic purpura, without any routine prophylactic treatment.

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Professor Manuel Pereira de Godoy idealized the Natural History Museum of Pirassununga (MHNP, in Portuguese), State of São Paulo, Brazil, in 1938. In 1962, the MHNP was constructed in the backyard of his house. In 1977, the museum also received the type specimens of fishes from the defunct Estação Experimental de Biologia e Piscicultura de Pirassununga (EEBP).

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Introduction: Conventional genetic investigation fails to identify the F8 causal variant in 2.5%-10% of haemophilia A (HA) patients with non-severe phenotypes. In these cases, F8 deep intronic variants could be causal.

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Background: The disease-causative variant remains unidentified in approximately 0.5% to 2% of hemophilia B patients using conventional genetic investigations, and F9 deep intronic variations could be responsible for these phenotypes.

Objectives: This study aimed to characterize deep intronic variants in hemophilia B patients for whom genetic investigations failed.

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Systemic sclerosis (SSc) is an autoimmune disease associated with endothelial activation and fibrosis. Non-O blood group patients carry an increased risk of thrombosis, fibrosis and autoimmune diseases. The aim of our work was to evaluate the distribution of ABO groups in SSc patients and their association with the disease's characteristics.

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Article Synopsis
  • Freshwater catfishes from a specific genus are frequently studied for cytogenetic variations, particularly in diploid numbers and chromosome structure.
  • The study examined karyotypes of five catfish species from different rivers, revealing a significant range in diploid numbers, from 72 to 82, due to chromosomal rearrangements.
  • Findings also showed varying heterochromatin distributions among species, which could help clarify taxonomic classifications when combined with molecular and morphological data.
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  • * Researchers identified multiple FXI deficiency cases with significant gene deletions, including whole gene deletions and specific exon deletions, through techniques like Sanger sequencing and Multiplex Probe Ligation-dependent Assay (MLPA).
  • * The findings suggest that a notable 2.9% of patients had gene deletions, indicating that systematic use of MLPA or Next Generation Sequencing (NGS) could improve diagnosis in unsolved FXI cases.
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This study aims to provide an annotated list of the type-material housed in the fish collection of the Ncleo de Pesquisas em Limnologia, Ictiologia e Aquicultura (NUP), Universidade Estadual de Maring, Paran, Brazil. NUPs fish type collection hosts type-material of 157 species, distributed in 503 lots (11 holotypes and 492 lots of paratypes) totalling 2,915 specimens. For each species, catalog numbers of all available lots are provided, and for each lot, total number of specimens, range of variation of standard length, number of cleared and stained specimens (when any), locality data, collectors, and date of collection, are provided.

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Hypostomus pantherinus was described by Kner in 1854 based on a single young specimen collected by Natterer with a type-locality just asserted as Guapor. No robust scientific paper focusing the distribution, taxonomy and ecology of this species has been published since the description. Here, based on the analysis of the holotype, recently collected material, and on an extensive searching on ichthyological fish collections, H.

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The menaced and poorly-known waters of the Bodoquena Plateau revealed a new resident, the stunning Hypostomus froehlichi sp. n., a large-sized armored catfish, which is finally described after more than twenty years since its discovery.

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In a recent expedition to the rio Grande basin, a tributary of the rio Paraná in southern Brazil, individuals of the armoured catfish genus Hypostomus with a peculiar and beautiful colour pattern composed of pale vermiculations on the head and four to five horizontal stripes on the flanks were collected. Initially, the specimens were identified as a colour morph of the pale-spotted H. margaritifer.

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Environmental disasters affecting Brazilian rivers have been frequent recently, especially involving mining activities. Two recent dam-rupture events suddenly released millions of cubic meters of iron tailings downstream into two major Brazilian watersheds. These events generated major losses to the environment and human life.

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Background: Despite a high prevalence of angiodysplasia, no specific guidelines are available for the modalities of endoscopic exploration of gastrointestinal (GI) bleeding in von Willebrand disease (VWD). Whether VWD patients could benefit from video capsule endoscopy (VCE) looking for angiodysplasia eligible to endoscopic treatment or at high risk of bleeding is unknown.

Objectives: To assess the diagnostic efficacy for angiodysplasia and the prognostic value of VCE on top of conventional endoscopy in VWD patients with GI bleeding.

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Background: The causative variant remains unidentified in 2%-5% of haemophilia A (HA) patients despite an exhaustive sequencing of the full F8 coding sequence, splice consensus sequences, 5'/3' untranslated regions and copy number variant (CNV) analysis. Next-generation sequencing (NGS) has provided significant improvements for a complete F8 analysis.

Aim: The aim of this study was to identify and characterize pathogenic non-coding variants in F8 of 15 French and Canadian HA patients genetically unresolved, through the use of NGS, mRNA sequencing and functional confirmation of aberrant splicing.

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A new species of Hypostomus with spoon-shaped teeth is described from the Rio Cupari basin, a right margin affluent of the lower Rio Tapajós, Pará State, Brazil. The new species inhabits rocky bottom areas in the main channel of Rio Cupari and its tributaries. The new species can be distinguished from all its congeners, except from the Hypostomus cochliodon group, by having six to eight spoon-shaped teeth, dentaries angled at less than 80° and the absence of a notch between the hyomandibular and the metapterygoid.

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In the midst of the effervescent discussions of climate change and setbacks in national environmental protection mechanisms, the Brazilian Amazon and its ichthyofauna are in the spotlight. Therefore, in this work we redescribe Hypostomus carinatus (Steindachner 1881), a little known medium-sized Amazonian species, providing means for its correct identification and taxonomic stabilization. In this way, based on the analysis of type specimens and recently collected material, H.

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In the present study, we analyzed individuals of (Loricariidae) collected from the Teles Pires River, southern Amazon basin, Brazil. has a diploid chromosome number of 2n = 64 and a karyotype composed of 12 metacentric (m), 22 submetacentric (sm), 14 subtelocentric (st), and 16 acrocentric (a) chromosomes, with a structural difference between the chromosomes of the two sexes: the presence of a block of heterochromatin in sm pair No. 26, which appears to represent a putative initial stage of the differentiation of an XX/XY sex chromosome system.

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Hypostomus albopunctatus was described from the Rio Piracicaba, a tributary of the Rio Tietê, upper Rio Paraná basin. Nevertheless, specimens attributed to this species are commonly found throughout other river systems in the upper Rio Paraná basin and present varying degrees of morphological variation. A taxonomic review of H.

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