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The adaptive nature of the galler habit has been tentatively explained by the nutrition, microenvironment, and enemy hypotheses. Soil attributes have direct relationships with these three hypotheses at the cellular and macroecological scales, but their influence has been restricted previously to effects on the nutritional status of the host plant on gall richness and abundance. Herein, we discuss the ionome patterns within gall tissues and their significance for gall development, physiology, structure, and for the nutrition of the gallers. Previous ecological and chemical quantification focused extensively on nitrogen and carbon contents, evoking the carbon-nutrient defence hypothesis as an explanation for establishing the plant-gall interaction. Different elements are involved in cell wall composition dynamics, antioxidant activity, and regulation of plant-gall water dynamics. An overview of the different soil-plant-gall relationships highlights the complexity of the nutritional requirements of gallers, which are strongly influenced by environmental soil traits. Soil and plant chemical profiles interact to determine the outcome of plant-herbivore interactions and need to be addressed by considering not only the soil features and galler nutrition but also the host plant's physiological traits. The quantitative and qualitative results for iron metabolism in gall tissues, as well as the roles of iron as an essential element in the physiology and reproduction of gallers suggest that it may represent a key nutritional resource, aligning with the nutrition hypothesis, and providing an integrative explanation for higher gall diversity in iron-rich soils.
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OBJECTIVE: To perform the translation, cultural adaptation, and validation of the NOSE-Perf Scale to Brazilian Portuguese. METHODS: This study was divided into two stages. In the first stage, the questionnaire was submitted for translation and cultural adaptation, following the guidelines recommended by the ISPOR Task Force (International Society for Pharmacoeconomics and Outcomes Research). Then, the Brazilian Portuguese version of the NOSE-Perf scale was applied to a group with septal perforation and a control group. The group with perforation answered the questionnaire again after one month. Internal consistency, test-retest reliability, and discriminant validity were assessed. RESULTS: The Brazilian Portuguese version of the NOSE-Perf scale was applied to 32 participants, 16 from the group with septal perforations and 16 controls. The instrument obtained high internal consistency, with Cronbach's alpha scores of 0.986. High reliability was also obtained, with Spearman's correlation coefficient of 0.996 (pâ¯<â¯0.001) and the intraclass correlation coefficient of 0.965 with a 95% Confidence Interval (95% CI) of 0.886â0.988. The NSP group obtained a mean total score of 13.8⯱â¯12.6 and the control group a score of 2.3⯱â¯1.8, with a statistical difference between the groups (pâ¯<â¯0.001), demonstrating good discriminant validity. CONCLUSION: The Brazilian Portuguese version of the NOSE-Perf scale is a reliable and valid instrument for measuring symptoms in patients with nasal septum perforations. LEVEL OF EVIDENCE: Level 2-Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence.
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Early T-cell Precursor Acute Lymphoblastic Leukemia (ETP-ALL), T-Lymphoid/Myeloid Mixed Phenotype Acute Leukemia (T/M-MPAL), and Acute Myeloid Leukemia with minimal differentiation (AML-M0) are immature acute leukemias (AL) that present overlapping T-cell lymphoid and myeloid features at different degrees, with impact to disease classification. An interesting strategy to assess lymphoid lineage commitment and maturation is the analysis of V(D)J gene segment recombination, which can be applied to investigate leukemic cells in immature AL. Herein, we revisited 19 ETP-ALL, 8 T/M-MPAL, and 12 AML-M0 pediatric patients to characterize V(D)J rearrangement (V(D)J-r) profiles associated with other somatic alterations. V(D)J-r were identified in 74â¯%, 25â¯%, and 25â¯% of ETP-ALL, T/M-MPAL, and AML-M0, respectively. Forty-six percent of ETP-ALL harbored ≥â¯3 V(D)J-r, while there was no more than one V(D)J-r per patient in AML-M0 and T/M-MPAL. TCRD was the most rearranged locus in ETPALL, but it was not rearranged in other AL. In ETP-ALL, N/KRAS mutations were associated with absence of V(D)J-r, while NF1 deletion was most frequent in patients with ≥â¯3 V(D)J-r. Relapse and death occurred mainly in patients harboring one or no rearranged locus. Molecular characterization of V(D)J-r in our cohort indicates a distinct profile of ETP-ALL, compared to T/M-MPAL and AML-M0. Our findings also suggest that the clinical outcome of ETP-ALL patients may be affected by blast cell maturity, inferred from the number of rearranged TCR loci.
Subject(s)
Leukemia, Myeloid, Acute , Humans , Child , Child, Preschool , Male , Adolescent , Female , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , V(D)J Recombination/genetics , Infant , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/pathology , Mutation , Gene RearrangementABSTRACT
PURPOSE: This study aimed to identify continuous epileptiform discharges (CEDs) on electroencephalograms (EEG) and to determine their clinical significance in children with congenital Zika syndrome (CZS). METHODS: This prospective cohort study included 75 children diagnosed with CZS born from March 2015 and followed up until September 2018 (age up to 36 months). EEG was performed to detect CEDs up to 24 months old. Data on obstetric, demographic, and clinical signs; cranial computed tomography (CT); ophthalmology examination; anti-seizure medication; growth; and motor development were collected. Fisher's exact test was used to verify the associations between categorical variables, and the T- test was used to compare the mean z-scores of anthropometric measurements between the groups with and without CED. RESULTS: CEDs were identified in 41 (54.67 %) children. The mean age of CEDs identification was 12.24 ± 6.86 months. Bilateral CEDs were shown in 62.89 % of EEGs. CEDs were associated with severe congenital microcephaly, defined by z-score >3 standard deviation of head circumference (HC) below the mean for sex and age (p = 0.025), and worse outcomes, including first seizure before 6 months (p = 0.004), drug-resistant epilepsy (p < 0.001), chorioretinal scarring or mottling (p = 0.002), and severe CT findings (p = 0.002). The CED group had lower mean z-scores of HC up to 24 months of age. CONCLUSION: This is the first description of the prevalence and significance of CEDs that also remains during wakefulness in patients with CZS. New investigations may suggest that it is more appropriate to classify the EEG not as a CED, but as a periodic pattern. Anyway, CEDs may be a marker of neurological severity in children with CSZ.
Subject(s)
Electroencephalography , Zika Virus Infection , Humans , Zika Virus Infection/complications , Zika Virus Infection/physiopathology , Zika Virus Infection/congenital , Female , Male , Infant , Prospective Studies , Child, Preschool , Microcephaly/physiopathology , Microcephaly/diagnostic imaging , Epilepsy/physiopathology , Neurodevelopmental Disorders/etiology , Neurodevelopmental Disorders/physiopathologyABSTRACT
OBJECTIVES: To describe the occurrence of post-extubation laryngitis, analyze its one-year evolution, and correlate laryngeal lesions with clinical outcomes. METHODS: Retrospective study including children up to 13 years old at a tertiary hospital between March 2020 and March 2022 with diagnosis of post-extubation laryngitis confirmed by endoscopic examination. Exclusion criteria were prior history of intubation or anatomical airway abnormalities. Medical records were reviewed to characterize patients, underlying diagnosis, laryngeal lesions, treatment, and outcomes at 12-month follow-up. RESULTS: The study included 38 endoscopically confirmed post-extubation laryngitis cases, corresponding to 86.4% of suspected cases. The mean age was 13.24 months, and 60.5% were male. Acute respiratory failure was the leading cause of intubation. Initial treatment was clinical, and initial diagnosis was defined by nasopharynoglaryngoscopy and/or Microlaryngoscopy and Bronchoscopy (MLB) findings. Initial diagnostic MLB was performed in 65.7% of the patients. Approximately half (53%) of the patients exhibited moderate or severe laryngeal lesions. When compared to mild cases, these patients experienced a higher rate of extubation failures (mean of 1.95 vs. 0.72, pâ¯=â¯0.0013), underwent more endoscopic procedures, and faced worse outcomes, such as the increased need for tracheostomy (pâ¯=â¯0.0001) and the development of laryngeal stenosis (pâ¯=â¯0.0450). Tracheostomy was performed in 14 (36.8%) children. Patients undergoing tracheostomy presented more extubation failures and longer intubation periods. Eight (21%) developed laryngeal stenosis, and 17 (58.6%) had complete resolution on follow-up. CONCLUSION: Post-extubation laryngitis is a frequent diagnosis among patients with clinical symptoms or failed extubation. The severity of laryngeal lesions was linked to a less favorable prognosis observed at one-year follow-up. Otolaryngological evaluation, follow-up protocols, and increased access to therapeutic resources are essential to manage these children properly. LEVEL OF EVIDENCE: Level 4.
Subject(s)
Airway Extubation , Laryngitis , Laryngoscopy , Humans , Male , Retrospective Studies , Laryngitis/etiology , Laryngitis/diagnosis , Laryngitis/therapy , Female , Airway Extubation/adverse effects , Child, Preschool , Infant , Child , Follow-Up Studies , Adolescent , BronchoscopyABSTRACT
BACKGROUND: Transfusion-transmitted malaria (TTM) is a public health problem in endemic and nonendemic areas. The Brazilian Ministry of Health (MH) requested the development of a nucleic acid amplification test (NAT) for the detection of Plasmodium spp. in public blood centers to increase blood safety. STUDY DESIGN AND METHODS: The new Brazilian NAT kit named NAT PLUS HIV/HBV/HCV/Malaria Bio-Manguinhos was first implemented in HEMORIO, a public blood center in the city of Rio de Janeiro. Since October 1, 2022, this blood center has been testing all its blood donations for malaria in a pool of six plasma samples to detect Plasmodium spp. by real-time polymerase chain reaction (PCR). RESULTS: Since the implementation of the NAT PLUS platform until February 2023, HEMORIO has successfully received and tested 200,277 donations. The platform detected two asymptomatic donors in the city of Rio de Janeiro, which is a nonendemic region for malaria. Our analyses suggested a malaria from the Amazon region caused by Plasmodium vivax, in the first case, while an autochthonous transmission case by Plasmodium malariae was identified in the rural area of Rio de Janeiro state. DISCUSSION: The NAT PLUS platform detects Plasmodium spp. in plasma samples with sensitivity capable of detecting subpatent infections. This is the first time worldwide that a group developed and implemented molecular diagnosis for Plasmodium spp. to be used by public blood centers to avoid TTM.
Subject(s)
HIV Infections , Hepatitis C , Malaria , Humans , Hepatitis B virus , Blood Donors , Brazil/epidemiology , Malaria/diagnosis , Malaria/epidemiology , Plasmodium malariae , HIV Infections/diagnosis , HIV Infections/epidemiologyABSTRACT
The cornea is a fundamental ocular tissue for the sense of sight. Thanks to it, the refraction of two-thirds of light manages to participate in the visual process and protect against mechanical damage. Because it is transparent, avascular, and innervated, the cornea comprises five main layers: Epithelium, Bowman's layer, stroma, Descemet's membrane, and endothelium. Each layer plays a key role in the functionality and maintenance of ocular tissue, providing unique ultrastructural and biomechanical properties. Bullous Keratopathy (BK) is an endothelial dysfunction that leads to corneal edema, loss of visual acuity, epithelial blisters, and severe pain, among other symptoms. The corneal layers are subject to changes in their biophysical properties promoted by Keratopathy. In this context, the Atomic Force Microscopy (AFM) technique in air was used to investigate the anterior epithelial surface and the posterior endothelial surface, healthy and with BK, using a triangular silicone tip with a nominal spring constant of 0.4 N/m. Six human corneas (n = 6) samples were used for each analyzed group. Roughness data, calculated by third-order polynomial adjustment, adhesion, and Young's modulus, were obtained to serve as a comparison and identification of morphological and biomechanical changes possibly associated with the pathology, such as craters and in the epithelial layer and exposure of a fibrotic layer due to loss of the endothelial cell wall. Endothelial cell membrane area and volume data were calculated, obtaining a relevant comparison between the control and patient. Such results may provide new data on the physical properties of the ocular tissue to understand the physiology of the cornea when it has pathology.
Subject(s)
Corneal Diseases , Corneal Edema , Humans , Endothelium, Corneal/metabolism , Descemet Membrane/metabolism , Corneal Edema/metabolism , Cornea/pathology , Corneal Diseases/pathologyABSTRACT
Background: Pediatric myelodysplastic syndrome (pMDS) is a group of rare clonal neoplasms with a difficult diagnosis and risk of progression to acute myeloid leukemia (AML). The early stratification in risk groups is essential to choose the treatment and indication for allogeneic hematopoietic stem cell transplantation (HSCT). According to the Revised International Prognostic Scoring System, cytogenetic analysis has demonstrated an essential role in diagnosis and prognosis. In pMDS, abnormal karyotypes are present in 30-50% of the cases. Monosomy 7 is the most common chromosomal alteration associated with poor prognosis. However, the rarity of specific cytogenetic alterations makes its prognosis uncertain. Thus, this study aimed to describe uncommon cytogenetic alterations in a cohort of 200 pMDS patients and their association with evolution to AML. Methods: The cytogenetic analysis was performed in 200 pMDS patients by G-banding and fluorescence in situ hybridization between 2000 to 2022. Results: Rare chromosome alterations were observed in 7.5% (15/200) of the cases. These chromosome alterations were divided into four cytogenetic groups: hyperdiploidy, biclonal chromosomal alterations, translocations, and uncommon deletions representing 33.3%, 33.3%, 20%, and 13.3%, respectively. Most of these patients (10/15) were classified with advanced MDS (MDS-EB and MDS/AML) and the initial subtype was present in five patients (RCC). The leukemic evolution was observed in 66.66% (10/15) of the patients. Most patients had poor clinical outcomes and they were indicated for HSCT. Conclusion: The study of uncommon cytogenetic alterations in pMDS is important to improve the prognosis and guide early indication of HSCT.
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Diagnostic criteria for juvenile myelomonocytic leukemia (JMML) are currently well defined, however in some patients diagnosis still remains a challenge. Flow cytometry is a well established tool for diagnosis and follow-up of hematological malignancies, nevertheless it is not routinely used for JMML diagnosis. Herewith, we characterized the CD34+ hematopoietic precursor cells collected from 31 children with JMML using a combination of standardized EuroFlow antibody panels to assess the ability to discriminate JMML cells from normal/reactive bone marrow cell as controls (n=29) or from cells of children with other hematological diseases mimicking JMML (n=9). CD34+ precursors in JMML showed markedly reduced B-cell and erythroid-committed precursors compared to controls, whereas monocytic and CD7+ lymphoid precursors were significantly expanded. Moreover, aberrant immunophenotypes were consistently present in CD34+ precursors in JMML, while they were virtually absent in controls. Multivariate logistic regression analysis showed that combined assessment of the number of CD34+CD7+ lymphoid precursors and CD34+ aberrant precursors or erythroid precursors had a great potential in discriminating JMMLs versus controls. Importantly our scoring model allowed highly efficient discrimination of truly JMML versus patients with JMML-like diseases. In conclusion, we show for the first time that CD34+ precursors from JMML patients display a unique immunophenotypic profile which might contribute to a fast and accurate diagnosis of JMML worldwide by applying an easy to standardize single eight-color antibody combination.
Subject(s)
Leukemia, Myelomonocytic, Juvenile , Child , Humans , Leukemia, Myelomonocytic, Juvenile/diagnosis , Leukemia, Myelomonocytic, Juvenile/genetics , Flow Cytometry , Antigens, CD34/genetics , Monocytes/pathologyABSTRACT
Presence of minimal residual disease (MRD), detected by flow cytometry, is an important prognostic biomarker in the management of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, data-analysis remains mainly expert-dependent. In this study, we designed and validated an Automated Gating & Identification (AGI) tool for MRD analysis in BCP-ALL patients using the two tubes of the EuroFlow 8-color MRD panel. The accuracy, repeatability, and reproducibility of the AGI tool was validated in a multicenter study using bone marrow follow-up samples from 174 BCP-ALL patients, stained with the EuroFlow BCP-ALL MRD panel. In these patients, MRD was assessed both by manual analysis and by AGI tool supported analysis. Comparison of MRD levels obtained between both approaches showed a concordance rate of 83%, with comparable concordances between MRD tubes (tube 1, 2 or both), treatment received (chemotherapy versus targeted therapy) and flow cytometers (FACSCanto versus FACSLyric). After review of discordant cases by additional experts, the concordance increased to 97%. Furthermore, the AGI tool showed excellent intra-expert concordance (100%) and good inter-expert concordance (90%). In addition to MRD levels, also percentages of normal cell populations showed excellent concordance between manual and AGI tool analysis. We conclude that the AGI tool may facilitate MRD analysis using the EuroFlow BCP-ALL MRD protocol and will contribute to a more standardized and objective MRD assessment. However, appropriate training is required for the correct analysis of MRD data.
Subject(s)
Leukemia, Megakaryoblastic, Acute , Humans , Infant , Fusion Proteins, bcr-abl/genetics , Leukemia, Megakaryoblastic, Acute/complications , Leukemia, Megakaryoblastic, Acute/diagnosis , Leukemia, Megakaryoblastic, Acute/genetics , Oncogene Proteins, Fusion/genetics , Repressor Proteins , Transcription FactorsABSTRACT
PURPOSE: Several clinical scenarios regulate the final ejaculated semen, which is pivotal to reproductive success. Sperm motility and plasma membrane fusogenic activity primarily rely on the peculiar sperm lipid composition, influenced by the patient's metabolism, genetics, nutritional, environmental status, and concomitant clinical entities such as varicocele. This study aimed to determine the relationship between serum lipid profile and testicular function (semen quality and testosterone levels). METHODS: This retrospective study uses medical charts of 278 infertile men who attended andrological care between 2000 and 2019. Seminal analysis data, lipid profile, and total serum testosterone were collected. A multiple linear regression analysis was performed to evaluate the influence of the lipid parameters on the seminal variables. Statistical analyses were carried out with p ≤ 0.05 considered statistically significant. RESULTS: Seminal creatine kinase activity (p = 0.024) is negatively related to HDL (p = 0.032) and triglycerides (p = 0.037), while total testosterone (p < 0.0001) and seminal volume (p = 0.046) appeared both to be negatively related to triglycerides (p = 0.030 and p = 0.033, respectively). CONCLUSION: Medical advice commonly advocated to prevent endothelial dysfunction and cardiovascular disease and improve HDL-cholesterol and triglyceride levels in dyslipidemic patients should also be given to infertile men. Physicians should give patients a thorough assessment, including the blood lipid profile, hormonal status, and routine seminal examinations. We propose a more comprehensive men´s health check-up for the infertile male population, not limited to a simple evaluation of basic sperm parameters.
Subject(s)
Infertility, Male , Semen Analysis , Male , Humans , Semen , Men's Health , Sperm Count , Retrospective Studies , Sperm Motility/physiology , Lipids , Triglycerides , TestosteroneABSTRACT
Gall anatomical and metabolic peculiarities are determined by the feeding habit of the gall inducer, but develop under the constraints of the host plants. The chewing habit of the Lepidoptera larvae imposes a high impact on the host plant cells, and supposedly drives peculiar structural and histochemical patterns. So, our starting point was the search of such patterns in literature, and the test of these traits on the Andescecidium parrai (Cecidosidae)-Schinus polygama (Anacardiaceae) system, as a case study in Chilean flora. The literature on the structure of lepidopteran galls in the temperate and tropical regions comprises 13 works, describing stems as the most frequent host organs, followed by leaves, buds, and flowers. As common structural traits of Lepidoptera galls, the literature converge in describing the processes of cell hypertrophy and hyperplasia, resulting in a variable number of common storage parenchyma layers, interspersed by the redifferentiated sclerenchyma, vascular, and typical nutritive cells around the larval chamber. These nutritive cells accumulate lipids and proteins, which support the lepidopteran larvae nutrition. As expected, the A. parrai galls follow the patterns herein described for the lepidoptera-induced galls, but with peculiarities associated with its host organ. Even though the Lepidoptera galls have destructive mouthparts and can induce large and complex galls, they cannot alter important conservative features of their hosts' organs.
Subject(s)
Anacardiaceae , Lepidoptera , Animals , Schinus , Plant Tumors , Larva , Host-Parasite InteractionsABSTRACT
BACKGROUND: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the ANKRD26 and SRP72 variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution. CASE PRESENTATION: A 4-year-old girl showed repeated infections and severe neutropenia. Bone marrow presented hypocellularity with dysplastic features. The patient had a t(3;8)(p26;q21)c identified by G-banding and FISH analysis. The family nucleus investigation identified the paternal origin of the chromosomal translocation. The NGS study identified ANKRD26 and SRP72 variants of maternal origin. CGH-array analysis detected alterations in PRSS3P2 and KANSL genes. Immunohistochemistry showed abnormal p53 expression during the MDS evolution. CONCLUSION: This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS.
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Lymphomas related to HIV are generally aggressive and have a poor prognosis, despite the use of combined antiretroviral therapy (cART) and effective chemotherapy treatment. To determine survival and prognostic factors in children and adolescents living with HIV (CLWH) in Rio de Janeiro (RJ), Brazil, who developed lymphomas, we performed a retrospective and observational study of vertically infected CLWH aged from 0 to 20 incomplete years during1995 to 2018 at five reference centers for cancer and HIV/AIDS treatment. Of the 25 lymphomas, 19 were AIDS-defining malignancies (ADM) and 6 were non-AIDS-defining malignancies (NADM). The 5-year overall survival (OS) and 5-year event-free survival (EFS) probabilities were both 32.00% (95% CI = 13.72-50.23%), and the 5-year disease-free survival (DFS) probability was 53.30% (95% CI = 28.02-78.58%). In the multivariate Cox regression analysis, performance status 4 (PS 4) was considered a poor prognostic factor for OS (HR 4.85, 95% CI = 1.81-12.97, p = 0.002) and EFS (HR 4.95, 95% CI = 1.84-13.34, p = 0.002). For the DFS, higher CD4+ T-cell counts were considered a better prognostic factor (HR 0.86, 95% CI = 0.76-0.97, p = 0.017) in the multivariate Cox regression analysis. This study demonstrates, for the first time, survival and prognostic factors for CLWH who developed lymphomas in RJ, Brazil.