EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils.

Type II topoisomerases (TOP2s) resolve torsional stress accumulated during various cellular processes and are enriched at chromatin loop anchors and topologically associated domain (TAD) boundaries, where, when trapped, can lead to genomic instability promoting the formation of oncogenic fusions. Whether TOP2s relieve topological constraints at these positions and/or participate in 3D chromosome folding remains unclear. Here, we combine 3D genomics, imaging, and GapRUN, a method for the genome-wide profiling of positive supercoiling, to assess the role of TOP2s in shaping chromosome organization in human cells.

Urinary incontinence and sabulous cystitis in mares: report of five cases.

This report describes five cases of urinary incontinence in Quarter Horse mares associated with the development of sabulous cystitis. The animals in this study had a history of persistent urinary incontinence for eight months, with clinical signs of continuous dribbling urine during rest and movement. The initial treatment with antibiotics and anti-inflammatory drugs was ineffective.

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Objective: We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), and to understand the genotype/phenotype correlation of structural variants (SVs) in the LMNB1 locus.

Background: Since the discovery of 3D genome architectures and topologically associating domains (TADs), new pathomechanisms have been postulated for SVs, regardless of gene dosage changes. ADLD is a rare genetic disease associated with duplications (classical ADLD) or noncoding deletions (atypical ADLD) in the LMNB1 locus.

ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.

Vaccinia-related kinase 1 (VRK1) is a gene which has been implicated in the pathological process of a broad range of neurodevelopmental disorders as well as neuropathies, such as Amyotrophic Lateral Sclerosis (ALS). Here we report a family presenting ALS in an autosomal recessive mode of inheritance, segregating with a homozygous missense mutation located in VRK1 gene (p.R321C; Arg321Cys).

Pulmonary aspergillosis in a horse: a case report.

Respiratory diseases considerably affect equine athletes, being the second most common cause of poor performance. Among these diseases, fungal pneumonia in horses, caused specifically by spp., is relatively rare but potentially fatal.

Survey on sanitary practices and knowledge about infectious diseases among equine owners in the State of Rio Grande do Norte, Brazil.

As the primary decision-maker about the health, nutrition, and well-being of their horses, owners' knowledge of correct management practices and clinical changes can potentially affect the immediate health of their horses, in addition to having an impact on the prevention of disease spread in the herd. The adoption of management practices to prevent the introduction and spread of pathogens depends on various factors, including demographics, awareness of the problem, perceived responsibility, previously held beliefs, and sociocultural norms. This study aimed to evaluate the health management practices and the level of knowledge about infectious diseases of equine owners in the state of Rio Grande do Norte, Brazil.

AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.

Acute myeloid leukemia with complex karyotype (CK-AML) is associated with poor prognosis, which is only in part explained by underlying TP53 mutations. Especially in the presence of complex chromosomal rearrangements, such as chromothripsis, the outcome of CK-AML is dismal. However, this degree of complexity of genomic rearrangements contributes to the leukemogenic phenotype and treatment resistance of CK-AML remains largely unknown.

Dental and oral cavity alterations in Quarter Horses of Vaquejada: retrospective study of 416 cases (2012-2022).

Oral and dental diseases are common in horses, as evidenced by the results of incidence studies of dental diseases carried out on abattoir specimens or sports horses. Thus, periodic dental examinations in horses are essential to ensure the maintenance of dental health and proper use of ingested food. A retrospective study of the dental records of 416 Quarter Horses (256 males, 160 females), distributed in the western region of the Rio Grande do Norte, Brazil, was conducted.

A complex structural variant near causes X-linked split-hand/foot malformation.

Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain normal apical ectodermal ridge function during limb development. Although several genes and contiguous gene syndromes are implicated in the monogenic etiology of isolated SHFM, the disorder remains genetically unexplained for many families and associated genetic loci.

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key players in driving ectopic bone formation. Identifying novel genes and pathways related to the mineralization process are important steps for future gene therapy in bone disorders. In this study, we detect an inter-chromosomal insertional duplication in a female proband disrupting a topologically associating domain and causing an ultra-rare progressive form of heterotopic ossification.

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individuals with complex genomic rearrangements including germline chromothripsis by combining short- and long-read genome sequencing (GS) with Hi-C. Large-scale genomic rearrangements are identified in Hi-C interaction maps, allowing for an independent assessment of breakpoint calls derived from the GS methods, resulting in >300 genomic junctions.

New Occurrences of the Tiger Shark ( (Carcharhinidae) off the Coast of Rio de Janeiro, Southeastern Brazil: Seasonality Indications.

The tiger shark (Péron & Lesueur, 1822) (Carcharhinidae) is classified as near-threatened along the Brazilian coast, in line with its global categorization. Although Rio de Janeiro, located in southeastern Brazil, is internationally identified as a priority shark conservation area, many shark species, including tiger sharks, are landed by both industrial and artisanal fisheries in this state. However, there is a lack of detailed information on the species capture pressures and records for the state of Rio de Janeiro.

Effects of total parenteral nutrition associated with glutamine, enteral fluid therapy with or without glutamine, and fluid therapy on the acid-base and electrolyte balance of horses starved after exploratory laparotomy.

This study aimed to evaluate the effects of the total parenteral nutrition associated with glutamine, enteral fluid therapy with or without glutamine, and fluid therapy on the acid-base and electrolyte balance of horses starved after exploratory laparotomy. Sixteen healthy male and female adult horses of mixed breed, aged between 4 and 14 years, and having a mean body weight of 248.40 ± 2.

Survey on the recognition, attitudes, and experience of horse owners during episodes of equine colic in Rio Grande do Norte, Brazil.

Horse owners are crucial in recognizing colic because they are responsible for identifying the signs of colic and deciding whether to seek veterinary intervention. Common reasons for delayed response to clinical issues include lack of understanding or knowledge of the subject and difficulty in recognizing subtle clinical signs of abdominal pain. Examining horse owners' basic knowledge of colic, their motivations, obstacles in seeking veterinary care, and their responses to the various clinical symptoms manifested during colic will identify current knowledge gaps and decision-making barriers.

Clinical findings and response to treatment of 17 cases of tetanus in horses (2012-2021).

Tetanus is a distressing and often fatal disease caused by exotoxins released by the bacterium . is a commensal of the gastrointestinal tract of humans and domestic animals, and its spores are highly resistant to environmental changes, acid, and alkali and may persist in the soil for many years. The disease is characterized by generalized muscular rigidity and spasms, hyperesthesia, convulsions, respiratory arrest, and death.

Comparison between the techniques of inclusion in glycol methacrylate (GMA)-based plastic resin and paraffin for evaluation intestinal morphometry in horses.

To determine the effect of the inclusion method on the histomorphometric evaluation of the gastrointestinal mucosa of horses, jejunum samples were collected using flank laparotomy. Sixteen mixed breed healthy adult horses, including four males and 12 females, aged 4-14 years with an average body weight of 248.40 ± 2.

Multimodal therapy for treatment of equine back pain: a report of 15 cases.

Back pain and diseases of the spine are considered significant problems in equine sports and veterinary medicine. This article reports a multimodal approach to the treatment of equine back pain using ozonized platelet rich plasma (PRP), dynamic mobilization exercises, and therapeutic shoeing in 15 horses involved in the vaquejada discipline. Fifteen American Quarter Horses of both sexes engaged in vaquejada in the state of Rio Grande do Norte, Brazil, with a mean age of 8.

Characteristics and outcomes of autologous hematopoietic stem cell transplant recipients admitted to intensive care units: A multicenter study.

Purpose: Studies of critically ill hematopoietic stem cell transplantation (HSCT) recipients have mainly been single-center and focused on allogenic HSCT recipients. We aimed to describe a cohort of autologous HSCT with an unplanned intensive care unit (ICU) admission.

Methods: This study is a retrospective cohort study of autologous HSCT performed as a treatment for a hematological malignancy, during their first unplanned ICU admission in 50 hospitals in Brazil.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung malformations is a major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome sequencing (GS) and Hi-C, we aimed at elucidating the molecular basis of bilateral isolated lung agenesis in three fetuses born to a non-consanguineous family.

Position effects at the FGF8 locus are associated with femoral hypoplasia.

Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome chromatin organization. The functional interpretation of whether a phenotype is the result of gene dosage or a regulatory position effect remains challenging.

Clinical Characteristics and In-Hospital Mortality of Cardiac Arrest Survivors in Brazil: A Large Retrospective Multicenter Cohort Study.

Objectives: Data on cardiac arrest survivors from developing countries are scarce. This study investigated clinical characteristics associated with in-hospital mortality in resuscitated patients following cardiac arrest in Brazil.

Design: Retrospective analysis of prospectively collected data.