A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.

Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC.

Phylogenomics of neglected flagellated protists supports a revised eukaryotic tree of life.

Eukaryotes evolved from prokaryotic predecessors in the early Proterozoic and radiated from their already complex last common ancestor, diversifying into several supergroups with unresolved deep evolutionary connections. They evolved extremely diverse lifestyles, playing crucial roles in the carbon cycle. Heterotrophic flagellates are arguably the most diverse eukaryotes and often occupy basal positions in phylogenetic trees.

Fresh Frozen Plasma in Orthotopic Liver Transplant: Friend or Foe?

Background: Traditionally, the administration of large volumes of fresh frozen plasma (FFP) was common during liver transplant surgery, with no improvement in the results in terms of bleeding and blood-saving. Moreover, this hydric overload caused by FFP may be harmful, leading to an increase in hospital stays and patient morbidity.

Methods: The objective is to assess the morbidity associated to the use of FFP in the intraoperative period of patients undergoing orthotopic liver transplantation.

Transcriptomics of Diphyllatea (CRuMs) from South Pacific crater lakes confirm new cryptic clades.

The Diphyllatea (CRuMs) are heterotrophic protists currently divided into three distinct clades (Diphy I-III). Diphy I are biflagellates in the genus Diphylleia, whereas Diphy II and III represent cryptic clades comprising Collodictyon-type quadriflagellates that were recently distinguished based on rRNA gene phylogenies. Here, we isolated Diphyllatea from freshwater crater lakes on two South Pacific islands and generated high-quality transcriptomes from species representing each clade, including the first transcriptomic data from Diphy III.

Evolutionarily diverse fungal zoospores show contrasting swimming patterns specific to ultrastructure.

Zoosporic fungi, also called chytrids, produce single-celled motile spores with flagellar swimming tails (zoospores). These fungi are key components of aquatic food webs, acting as pathogens, saprotrophs, and prey. Little is known about the swimming behavior of fungal zoospores, a crucial factor governing dispersal, biogeographical range, ecological function, and infection dynamics.

Cardiovascular and Renal Effects Induced by Alpha-Lipoic Acid Treatment in Two-Kidney-One-Clip Hypertensive Rats.

α-Lipoic acid (LA) is an antioxidant of endogenous production, also obtained exogenously. Oxidative stress is closely associated with hypertension, which causes kidney injury and endothelial dysfunction. Here, we evaluated the cardiovascular and renal effects of LA in the two-kidney-one-clip (2K1C) hypertension model.

Social isolation and post-weaning environmental enrichment effects on rat emotional behavior and serotonergic system.

Social isolation (SI) is related to adverse neurobehavioral effects and neurochemical changes when it occurs early in development. On the other hand, environmental enrichment (EE) is associated with a reduction in anxiety-like and depression-like behavior, as well as an increase in serotonin (5-HT) levels in the prefrontal cortex and hippocampus in rodents. This study systematically reviewed the effects of SI and EE on emotional behavior and serotonergic system components in rats after weaning.

Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.

This article describes the rationale, aims, and methodology of the Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ). This is the largest international collaboration to date that will develop algorithms to predict trajectories and outcomes of individuals at clinical high risk (CHR) for psychosis and to advance the development and use of novel pharmacological interventions for CHR individuals. We present a description of the participating research networks and the data processing analysis and coordination center, their processes for data harmonization across 43 sites from 13 participating countries (recruitment across North America, Australia, Europe, Asia, and South America), data flow and quality assessment processes, data analyses, and the transfer of data to the National Institute of Mental Health (NIMH) Data Archive (NDA) for use by the research community.

Assessing Endoscopic Suture Performance of Gynecology and Obstetrics Residents Following Methodic Training.

Objective:  To evaluate the performance of residents in gynecology and obstetrics before and after practicing laparoscopic sutures, to establish when the training shows the best results, in addition to comparing whether being in different years of residency influences this progression.

Methods:  A prospective cohort study involving 32 medical residents evaluated with a pretest to establish their previous knowledge in laparoscopic suture. This test consisted of knotting two wires, one made of polypropylene and the other of polyglactin, with a blocking sequence of five semi-knots.

One high quality genome and two transcriptome datasets for new species of Mantamonas, a deep-branching eukaryote clade.

Mantamonads were long considered to represent an "orphan" lineage in the tree of eukaryotes, likely branching near the most frequently assumed position for the root of eukaryotes. Recent phylogenomic analyses have placed them as part of the "CRuMs" supergroup, along with collodictyonids and rigifilids. This supergroup appears to branch at the base of Amorphea, making it of special importance for understanding the deep evolutionary history of eukaryotes.

Primary Left Thigh Melanoma Presenting as an Obstructive Hemorrhagic Melanoma of the Small Bowel.

Primary malignant melanoma of the small intestine is rare and infrequent. However, the small bowel is a relatively common metastatic destination for cutaneous melanoma. Given the fact that primary small intestinal melanoma is a controversial and rare diagnosis, we present a case in which the initial finding suggested a primary tumor.

Molecular and morphological characterization of four new ancyromonad genera and proposal for an updated taxonomy of the Ancyromonadida.

Ancyromonads are small biflagellated protists with a bean-shaped morphology. They are cosmopolitan in marine, freshwater, and soil environments, where they attach to surfaces while feeding on bacteria. These poorly known grazers stand out by their uncertain phylogenetic position in the tree of eukaryotes, forming a deep-branching "orphan" lineage that is considered key to a better understanding of the early evolution of eukaryotes.

The Importance of Excisional Biopsy in Nodular Lymphocyte-Predominant Hodgkin's Lymphoma.

Hodgkin's lymphoma (HL) is a malignancy that is typically B-cell in origin. HL can be further classified into classical HL and nodular lymphocyte-predominant HL (NLPHL). NLPHL is a rare lymphoma.

Maturases and Group II Introns in the Mitochondrial Genomes of the Deepest Jakobid Branch.

Ophirinina is a recently described suborder of jakobid protists (Excavata) with only one described species to date, Ophirina amphinema. Despite the acquisition and analysis of massive transcriptomic and mitogenomic sequence data from O. amphinema, its phylogenetic position among excavates remained inconclusive, branching as sister group either to all Jakobida or to all Discoba.

Mycobacterium abscessus resists the innate cellular response by surviving cell lysis of infected phagocytes.

Mycobacterium abscessus is the most pathogenic species among the predominantly saprophytic fast-growing mycobacteria. This opportunistic human pathogen causes severe infections that are difficult to eradicate. Its ability to survive within the host was described mainly with the rough (R) form of M.

Thrombospondin Type 1 Domain-Containing 7A (THSD7A)-Associated Membranous Nephropathy Leading to Metastatic Neuroendocrine Carcinoma.

Idiopathic membranous nephropathy also known as primary membranous nephropathy (PMN) is a common cause of nephrotic syndrome often seen in nondiabetic adults worldwide, rising as high as 40% in adults over the age of 60. Most PMN is mediated by antibodies to the M-type phospholipase A2 receptor (anti-PLA2R) in nearly 70%-80% of individuals. Thrombospondin type 1 domain-containing 7A (THSD7A) accounts for 1%-5% of individuals with PMN.

Transporter Proteins as Ecological Assets and Features of Microbial Eukaryotic Pangenomes.

Here we review two connected themes in evolutionary microbiology: () the nature of gene repertoire variation within species groups (pangenomes) and () the concept of metabolite transporters as accessory proteins capable of providing niche-defining "bolt-on" phenotypes. We discuss the need for improved sampling and understanding of pangenome variation in eukaryotic microbes. We then review the factors that shape the repertoire of accessory genes within pangenomes.

Hypertension-Induced Thrombotic Microangiopathy Leading to End-Stage Renal Disease.

Thrombotic microangiopathy (TMA) is a term used for a group of rare and life-threatening hematological conditions. Usually, these disease processes are characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and microthrombi leading to tissue or organ injury. We present a case of a 41-year-old male with TMA induced by uncontrolled hypertension leading to end-stage renal disease requiring hemodialysis.

Expanding the molecular and morphological diversity of Apusomonadida, a deep-branching group of gliding bacterivorous protists.

Apusomonads are cosmopolitan bacterivorous biflagellate protists usually gliding on freshwater and marine sediment or wet soils. These nanoflagellates form a sister lineage to opisthokonts and may have retained ancestral features helpful to understanding the early evolution of this large supergroup. Although molecular environmental analyses indicate that apusomonads are genetically diverse, few species have been described.

A Genome Sequence Assembly of the Phototactic and Optogenetic Model Fungus Blastocladiella emersonii Reveals a Diversified Nucleotide-Cyclase Repertoire.

The chytrid fungus Blastocladiella emersonii produces spores with swimming tails (zoospores); these cells can sense and swim toward light. Interest in this species stems from ongoing efforts to develop B. emersonii as a model for understanding the evolution of phototaxis and the molecular cell biology of the associated optogenetic circuits.

Effects of maternal high-fat diet on the hypothalamic components related to food intake and energy expenditure in mice offspring.

Maternal exposure to a high-fat diet (HFD) during pregnancy and lactation has been related to changes in the hypothalamic circuits involved in the regulation of food intake. Furthermore, maternal HFD during the critical period of development can alter the offspring's metabolic programming with long-term repercussions. This study systematically reviewed the effects of HFD consumption during pre-pregnancy, pregnancy and/or lactation.

Phylogenomics Supports the Monophyly of Aphelids and Fungi and Identifies New Molecular Synapomorphies.

The supergroup Holomycota, composed of Fungi and several related lineages of unicellular organisms (Nucleariida, Rozellida, Microsporidia, and Aphelida), represents one of the major branches in the phylogeny of eukaryotes. Nevertheless, except for the well-established position of Nucleariida as the first holomycotan branch to diverge, the relationships among the other lineages have so far remained unresolved largely owing to the lack of molecular data for some groups. This was notably the case aphelids, a poorly known group of endobiotic phagotrophic protists that feed on algae with cellulose walls.

First Molecular Characterization of the Elusive Marine Protist Meteora sporadica.

Meteora sporadica is a protist species first described by Hausmann et al. (2002) in deep-sea sediments from the Sporades Basin, Eastern Mediterranean Sea. Due to its unusual morphology and locomotion, very different from those of other high-rank eukaryotic taxa, it was classified as an incertae sedis species.