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Objetivos: Ressaltar a raridade da condição e a ocorrência de mielodisplasia cútis em crianças. Materiais e métodos: Relato de caso. Resultados: Paciente masculino, 13 anos, em acompanhamento com hematologia devido à plaquetopenia crônica. Realizado mielograma e imunofenotipagem indicando distúrbio de maturação das séries granulocítica, monocítica e eritrocítica em > 10% das células e presença de 0,6% de blastos. Cariótipo alterado em cromossomos 3, 11 e 21. Realizado diagnóstico de SMD com cariótipo complexo sem infiltração medular. Indicado tratamento com Transplante de Medula Óssea (TMO). Em consulta pré-TMO, indicada internação devido hemorragia conjuntival e febre associadas a lesões de pele pápulo-nodulares de coloração vermelho-violáceo em membros superiores, inferiores e dorso de início há um mês, sem melhora com anti-histamínico e corticoide tópico. Em biópsia de pele, foram indicadas alterações compatíveis com Síndrome Sweet/ mielodisplasia cútis (MPO+/CD68+/CD34-/CD117-); leucemização descartada após nova avaliação de medula óssea. Durante internação, iniciado ciclo de Azacitidina, com boa resposta ao tratamento resultando na melhora das lesões. Hoje paciente em programação para realização de TMO. Discussão: A SMD é uma desordem das células hematopoiéticas, caracterizada por citopenias, hematopoiese ineficaz e risco de transformação leucêmica. Em crianças, é uma condição rara com incidência aproximada de 1 para um milhão por ano e representa cerca de 4% das doenças malignas hematológicas. Para diagnóstico são necessários pelo menos dois dos três critérios: citopenia inexplicada refratária (neutropenia, trombocitopenia ou anemia); mielodisplasia em duas ou mais linhagens celulares ou superior a 10% em linhagem única; anormalidade clonal hematopoiética/genética; elevação do número de blastos acima de 5% na medula óssea ou 2% no sangue periférico. A classificação pediátrica divide-se em três categorias principais: Citopenia Refratária das Crianças – RCC (< 2% de blastos no sangue periférico e < 5% na medula óssea); anemia refratária com excesso de blastos-AREB (2%‒19% de blastos no sangue periférico ou 5%‒19% de blastos na medula óssea); e AREB em transformação ‒ AREB-t (≥ 20%‒29% de blastos no sangue periférico ou medula óssea). O achado citogenético mais comum na população pediátrica é a monossomia 7. Cariótipo complexo (≥ 3 alterações cromossômicas, incluindo pelo menos uma aberração estrutural) é raro e é o fator prognóstico independente mais importante para pior evolução. Considerando-se que as crianças portadoras de SMD têm alta mortalidade devido aos efeitos da citopenia ou da evolução clonal para Leucemia Mieloide Aguda (LMA), o TMO alogênico é indicado como tratamento curativo. Na sua impossibilidade, o agente hipometilante Azacitidina tem mostrado algum benefício. A manifestação cutânea é incomum e consiste na infiltração da pele por células granulocíticas. Clinicamente, observam-se massas tumorais ou múltiplas lesões disseminadas, pápulo-nodulares, de crescimento rápido, firmes e vermelho-violáceas. Lesões desenvolvem-se geralmente em ossos, periósteo, tecidos moles, linfonodos e pele. A histologia com imunohistoquímica e a imunoperoxidase são fundamentais para o diagnóstico de infiltração secundária. Conclusão: Devido a raridade da SMD infantil, principalmente com apresentação cutânea, a documentação desse caso se torna importante para contribuição diagnóstica e de elucidação fisiopatológica e terapêutica.

Atherosclerotic vascular changes can begin during childhood, providing risk for cardiovascular disease (CVD) in adulthood. Identifiable risk factors such as dyslipidemia accelerate this process for some children. The apolipoprotein B (APOB) gene could help explain the inter-individual variability in lipid levels among young individuals and identify groups that require greater attention to prevent CVD. A cross-sectional study was conducted with school-aged children and adolescents in Ouro Preto, Minas Gerais. The study evaluated cardiovascular risk factors' variables and XbaI polymorphism in the APOB gene for associations with increased total cholesterol (TC). The prevalence of increased TC was notably high, reaching 68.9% in the study population. Carriers of the variant T allele were 1.45 times more likely to develop increased TC in a dominant model (1.09-1.94, p = 0.011). After adjustments, excess weight and a family history of dyslipidemia interacted significantly with XbaI polymorphism in increased TC, resulting in Odds Ratio of 1.74 (1.11-2.71, p = 0.015) and 2.04 (1.14-3.67, p = 0.016), respectively. The results suggest that XbaI polymorphism in the APOB gene may affect the lipid profile of Brazilian children and adolescents and could contribute to the CVD in adulthood., Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Federal University of Ouro Preto (CAAE 28680020.0.0000.5150). Consent for publication: Informed consent was obtained from all individual participants included in the study and written informed consent was obtained from the parents., (© 2024. The Author(s).)

The aim of this pilot test was to test a new self-locking resorbable implant for hilum occlusion during a video-assisted thoracoscopic lung lobectomy in a surviving pig model. Once the thoracic cavity was assessed and structures identified, the right middle lobe and its respective hilum were exposed. The implant was introduced with a semiclosed loop through a working channel and positioned around the pulmonary lobe. Occlusion was performed with a conventional Crile forceps and a laparoscopic Kelly forceps. Lobe section was done with laparoscopic Metzenbaum scissors and tissue removal through the dorsal access. No signs of pneumothorax or bleeding were observed during a 60-day follow-up. Necropsy findings showed minimal pleuritis in caudal access and in the lobar stump. A granulomatous formation was found around a dense, amorphous material, which was identified as remains of a small part of the implant. Histopathological findings showed signs of a chronic healing process without other alterations. The resorbable implant LigaTie appears to exhibit similar handling and application characteristics during surgery as nonsurgical tie wraps. The resorbable implant avoids the uncontrolled substances not suitable for implants of conventional ties. The results of this pilot test suggested the resorbable implant's mechanical properties provided effective tissue support to complete the healing of the pulmonary hilum.

Introduction: The use of symptom-specific questionnaires on head and neck cancer (HNC), together with objective swallowing measures, can be sensitive to changes in quality of life (QoL) resulting from dysphagia, but this tool is not broadly used as a complement to clinical evaluations., Purpose: To analyze the correlation between the M. D. Anderson Dysphagia Inventory (MDADI) questionnaire and videofluoroscopy (VF) in patients treated for head and neck cancer., Methods: This is a retrospective study with review of clinical data, VF and MDADI results. The study sample was composed of adult patients (>18 y.o.) treated for tumors at the oral cavity, oropharynx, hypopharynx, and larynx, regardless of treatment type. For the VF examination, swallowing of 5 and 20 ml of nectar-thick liquids were considered. The Mann-Whitney nonparametric test was applied to evaluate the correlations between the MDADI and VF., Results: Thirty-nine patients, mostly men (87.18%), with mean age of 61 years participated in the study. Most patients (16) presented oral cavity tumors (41.03%). Twenty-two patients were in advanced clinical stage (IV). Surgery was the most prevalent treatment (41.03%). Approximately half of the participants (20) received oral feeding. The total mean (TM) on the MDADI was 63.36. Comparison between VF and MDADI data showed significant correlation between TM, emotional domain (ED), and physical domain (PD) with penetration during the swallowing of 5 ml. Penetration and aspiration with 20 ml determined worse QoL on the global (p=0.018 and p=0.0053), emotional (p=0.0012 and p=0.027) and physical (p=0.0002 and p=0.0051) domains, and TM (p=0.0023 and p=0.0299), respectively. The presence of stasis did not determine worse QoL., Conclusion: Patients treated for HNC who presented penetration/aspiration showed worse QoL on the emotional and physical domains of the MDADI.

Transcriptional regulation, a multiple-step process, is still poorly understood in the important pig pathogen Mycoplasma hyopneumoniae. Basic motifs like promoters and terminators have already been described, but no other cis-regulatory elements have been found. DNA repeat sequences have been shown to be an interesting potential source of cis-regulatory elements. In this work, a genome-wide search for tandem and palindromic repetitive elements was performed in the intergenic regions of all coding sequences from M. hyopneumoniae strain 7448. Computational analysis demonstrated the presence of 144 tandem repeats and 1,171 palindromic elements. The DNA repeat sequences were distributed within the 5' upstream regions of 86% of transcriptional units of M. hyopneumoniae strain 7448. Comparative analysis between distinct repetitive sequences found in related mycoplasma genomes demonstrated different percentages of conservation among pathogenic and nonpathogenic strains. qPCR assays revealed differential expression among genes showing variable numbers of repetitive elements. In addition, repeats found in 206 genes already described to be differentially regulated under different culture conditions of M. hyopneumoniae strain 232 showed almost 80% conservation in relation to M. hyopneumoniae strain 7448 repeats. Altogether, these findings suggest a potential regulatory role of tandem and palindromic DNA repeats in the M. hyopneumoniae transcriptional profile., Competing Interests: The authors have declared that no competing interests exist.

Background: The described species from the Metarhizium genus are cosmopolitan fungi that infect arthropod hosts. Interestingly, while some species infect a wide range of hosts (host-generalists), other species infect only a few arthropods (host-specialists). This singular evolutionary trait permits unique comparisons to determine how pathogens and virulence determinants emerge. Among the several virulence determinants that have been described, secondary metabolites (SMs) are suggested to play essential roles during fungal infection. Despite progress in the study of pathogen-host relationships, the majority of genes related to SM production in Metarhizium spp. are uncharacterized, and little is known about their genomic organization, expression and regulation. To better understand how infection conditions may affect SM production in Metarhizium anisopliae, we have performed a deep survey and description of SM biosynthetic gene clusters (BGCs) in M. anisopliae, analyzed RNA-seq data from fungi grown on cattle-tick cuticles, evaluated the differential expression of BGCs, and assessed conservation among the Metarhizium genus. Furthermore, our analysis extended to the construction of a phylogeny for the following three BGCs: a tropolone/citrinin-related compound (MaPKS1), a pseurotin-related compound (MaNRPS-PKS2), and a putative helvolic acid (MaTERP1)., Results: Among 73 BGCs identified in M. anisopliae, 20 % were up-regulated during initial tick cuticle infection and presumably possess virulence-related roles. These up-regulated BGCs include known clusters, such as destruxin, NG39x and ferricrocin, together with putative helvolic acid and, pseurotin and tropolone/citrinin-related compound clusters as well as uncharacterized clusters. Furthermore, several previously characterized and putative BGCs were silent or down-regulated in initial infection conditions, indicating minor participation over the course of infection. Interestingly, several up-regulated BGCs were not conserved in host-specialist species from the Metarhizium genus, indicating differences in the metabolic strategies employed by generalist and specialist species to overcome and kill their host. These differences in metabolic potential may have been partially shaped by horizontal gene transfer (HGT) events, as our phylogenetic analysis provided evidence that the putative helvolic acid cluster in Metarhizium spp. originated from an HGT event., Conclusions: Several unknown BGCs are described, and aspects of their organization, regulation and origin are discussed, providing further support for the impact of SM on the Metarhizium genus lifestyle and infection process.

The swine respiratory ciliary epithelium is mainly colonized by Mycoplasma hyopneumoniae, Mycoplasma flocculare and Mycoplasma hyorhinis. While colonization by M. flocculare is virtually asymptomatic, M. hyopneumoniae and M. hyorhinis infections may cause respiratory disease. Information regarding transcript structure and gene abundance provides valuable insight into gene function and regulation, which has not yet been analyzed on a genome-wide scale in these Mycoplasma species. In this study, we report the construction of transcriptome maps for M. hyopneumoniae, M. flocculare and M. hyorhinis, which represent data for conducting comparative studies on the transcriptional repertory. For each species, three cDNA libraries were generated, yielding averages of 415,265, 695,313 and 93,578 reads for M. hyopneumoniae, M. flocculare and M. hyorhinis, respectively, with an average read length of 274 bp. The reads mapping showed that 92%, 98% and 96% of the predicted genes were transcribed in the M. hyopneumoniae, M. flocculare and M. hyorhinis genomes, respectively. Moreover, we showed that the majority of the genes are co-expressed, confirming the previously predicted transcription units. Finally, our data defined the RNA populations in detail, with the map transcript boundaries and transcription unit structures on a genome-wide scale.

Background: Metarhizium anisopliae is an entomopathogenic fungus used in the biological control of some agricultural insect pests, and efforts are underway to use this fungus in the control of insect-borne human diseases. A large repertoire of proteins must be secreted by M. anisopliae to cope with the various available nutrients as this fungus switches through different lifestyles, i.e., from a saprophytic, to an infectious, to a plant endophytic stage. To further evaluate the predicted secretome of M. anisopliae, we employed genomic and transcriptomic analyses, coupled with phylogenomic analysis, focusing on the identification and characterization of secreted proteins., Results: We determined the M. anisopliae E6 genome sequence and compared this sequence to other entomopathogenic fungi genomes. A robust pipeline was generated to evaluate the predicted secretomes of M. anisopliae and 15 other filamentous fungi, leading to the identification of a core of secreted proteins. Transcriptomic analysis using the tick Rhipicephalus microplus cuticle as an infection model during two periods of infection (48 and 144 h) allowed the identification of several differentially expressed genes. This analysis concluded that a large proportion of the predicted secretome coding genes contained altered transcript levels in the conditions analyzed in this study. In addition, some specific secreted proteins from Metarhizium have an evolutionary history similar to orthologs found in Beauveria/Cordyceps. This similarity suggests that a set of secreted proteins has evolved to participate in entomopathogenicity., Conclusions: The data presented represents an important step to the characterization of the role of secreted proteins in the virulence and pathogenicity of M. anisopliae.

Fungal chitin metabolism involves diverse processes such as metabolically active cell wall maintenance, basic nutrition, and different aspects of virulence. Chitinases are enzymes belonging to the glycoside hydrolase family 18 (GH18) and 19 (GH19) and are responsible for the hydrolysis of β-1,4-linkages in chitin. This linear homopolymer of N-acetyl-β-D-glucosamine is an essential constituent of fungal cell walls and arthropod exoskeletons. Several chitinases have been directly implicated in structural, morphogenetic, autolytic and nutritional activities of fungal cells. In the entomopathogen Metarhizium anisopliae, chitinases are also involved in virulence. Filamentous fungi genomes exhibit a higher number of chitinase-coding genes than bacteria or yeasts. The survey performed in the M. anisopliae genome has successfully identified 24 genes belonging to glycoside hydrolase family 18, including three previously experimentally determined chitinase-coding genes named chit1, chi2 and chi3. These putative chitinases were classified based on domain organization and phylogenetic analysis into the previously described A, B and C chitinase subgroups, and into a new subgroup D. Moreover, three GH18 proteins could be classified as putative endo-N-acetyl-β-D-glucosaminidases, enzymes that are associated with deglycosylation and were therefore assigned to a new subgroup E. The transcriptional profile of the GH18 genes was evaluated by qPCR with RNA extracted from eight culture conditions, representing different stages of development or different nutritional states. The transcripts from the GH18 genes were detected in at least one of the different M. anisopliae developmental stages, thus validating the proposed genes. Moreover, not all members from the same chitinase subgroup presented equal patterns of transcript expression under the eight distinct conditions studied. The determination of M. anisopliae chitinases and ENGases and a more detailed study concerning the enzymes' roles in morphological or nutritional functions will allow comprehensive insights into the chitinolytic potential of this highly infective entomopathogenic fungus.

Analysis of quality of life (QOL) has revealed that preservation of swallowing, speech, and breathing functions has a direct impact on QOL and that these functions are important patient-reported outcomes. The purposes of this study were to adapt and culturally validate the M.D. Anderson Dysphagia Inventory (MDADI) to the Brazilian Portuguese language and to evaluate QOL related to dysphagia in patients treated for head and neck cancer. This was a cross-sectional study that included 72 adult patients with a mean age of 63 years who were treated for head and neck cancer. Construct validity and reliability analyses were performed through the comparison of the MDADI with three other health-related QOL questionnaires administered at the time of enrollment and MDADI application 2 weeks thereafter, respectively. Reliability was established by assuring both internal consistency (Cronbach's α) and test-retest reliability (intraclass correlation coefficient, ICC). Test-retest reliability for the total score in the MDADI had an ICC greater than 0.795 (p < 0.001). The MDADI had significant statistical correlations with the other questionnaires. Patients treated for head and neck cancer had a mean total score of 83 on the MDADI, which is indicative of minimal limitation in overall QOL. In conclusion, the present study validates the adaptation of the MDADI to the Brazilian Portuguese language and provides another tool to evaluate the impact of dysphagia on the QOL of head and neck cancer patients.

A 2-year-old female mixed-breed cat weighing 2.7 kg presented with recurrent rectal prolapse. The following report describes its treatment by laparoscopic-assisted incisional colopexy using two portals. The procedure was effective and without trans- or postoperative complications. Recurrent prolapses did not recur in the 2 months of postoperative observation.

Background: Besides being building blocks for proteins, amino acids are also key metabolic intermediates in living cells. Surprisingly a variety of organisms are incapable of synthesizing some of them, thus named Essential Amino Acids (EAAs). How certain ancestral organisms successfully competed for survival after losing key genes involved in amino acids anabolism remains an open question. Comparative genomics searches on current protein databases including sequences from both complete and incomplete genomes among diverse taxonomic groups help us to understand amino acids auxotrophy distribution., Results: Here, we applied a methodology based on clustering of homologous genes to seed sequences from autotrophic organisms Saccharomyces cerevisiae (yeast) and Arabidopsis thaliana (plant). Thus we depict evidences of presence/absence of EAA biosynthetic and nitrogen assimilation enzymes at phyla level. Results show broad loss of the phenotype of EAAs biosynthesis in several groups of eukaryotes, followed by multiple secondary gene losses. A subsequent inability for nitrogen assimilation is observed in derived metazoans., Conclusions: A Great Deletion model is proposed here as a broad phenomenon generating the phenotype of amino acids essentiality followed, in metazoans, by organic nitrogen dependency. This phenomenon is probably associated to a relaxed selective pressure conferred by heterotrophy and, taking advantage of available homologous clustering tools, a complete and updated picture of it is provided.

Background: The integration of sequencing and gene interaction data and subsequent generation of pathways and networks contained in databases such as KEGG Pathway is essential for the comprehension of complex biological processes. We noticed the absence of a chart or pathway describing the well-studied preimplantation development stages; furthermore, not all genes involved in the process have entries in KEGG Orthology, important information for knowledge application with relation to other organisms., Results: In this work we sought to develop the regulatory pathway for the preimplantation development stage using text-mining tools such as Medline Ranker and PESCADOR to reveal biointeractions among the genes involved in this process. The genes present in the resulting pathway were also used as seeds for software developed by our group called SeedServer to create clusters of homologous genes. These homologues allowed the determination of the last common ancestor for each gene and revealed that the preimplantation development pathway consists of a conserved ancient core of genes with the addition of modern elements., Conclusions: The generation of regulatory pathways through text-mining tools allows the integration of data generated by several studies for a more complete visualization of complex biological processes. Using the genes in this pathway as "seeds" for the generation of clusters of homologues, the pathway can be visualized for other organisms. The clustering of homologous genes together with determination of the ancestry leads to a better understanding of the evolution of such process.

This report demonstrates the feasibility of an elective ovariosalpingohysterectomy by natural transluminal endoscopic surgery (NOTES) hybrid technique in a dog. A 5-mm abdominal cannula was used in combination with a 10-mm cannula (vaginal access). The patient's quick recovery and the absence of complications are indicative of the effectiveness of this surgery.

The aim of this study was to evaluate the resistance to ten antimicrobial agents and the presence of bla ( TEM1 ) gene of Gram-negative bacteria isolated from three natural oligotrophic lakes with varying degrees of anthropogenic influence. A total of 272 indigenous bacteria were recovered on eosin methylene blue medium; they were characterized for antimicrobial resistance and identified taxonomically by homology search and phylogenetic comparisons. Based on 16S ribosomal RNA sequences analysis, 97% of the isolates were found to be Gram-negative bacteria; they belonged to 11 different genera. Members of the genera Acinetobacter, Enterobacter, and Pseudomonas predominated. Most of the bacteria were resistant to at least one antimicrobial. The incidence of resistance to beta-lactams, chloramphenicol, and mercury was high, whereas resistance to tetracycline, aminoglycosides, and nalidixic acid was low. There was a great frequency of multiple resistances among the isolates from the three lakes, although no significant differences were found among the disturbed and reference lakes. The ampicillin resistance mechanism of 71% of the isolates was due to the gene bla ( TEM1 ). Our study suggests that multiresistant Gram-negative bacteria and the bla ( TEM1 ) gene are common in freshwater oligotrophic lakes, which are subject to different levels of anthropogenic inputs.