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Renal cell carcinoma (RCC) is rarely diagnosed during pregnancy and its management represents a challenge as it necessitates considerations for the well-being of both the mother and the developing fetus. Diagnosis can be challenging and is often an incidental finding during routine imaging, which can lead to difficult decision-making. The choice of the ideal imaging study in these cases is a matter of debate. When the tumor is detected at an early stage, radical nephrectomy is indicated. However, there is still controversy regarding whether it should be performed conventionally or laparoscopically, as both techniques have their risks and benefits. In this context, our primary objective was to provide adequate surgical treatment for the patient, while safeguarding fetal health. Here, we present a patient with a history of recurrent miscarriages, in whom a renal tumor was incidentally diagnosed during pregnancy. Adding to the uniqueness of this case, the patient was diagnosed with an eosinophilic variant of chromophobe RCC through histopathological analysis. Our aim is to highlight the controversies surrounding diagnostic and treatment methodologies and to present the surgical techniques employed in this unique situation. This case underscores the importance and need for a multidisciplinary approach, which, in our instance, resulted in favorable outcomes for both maternal and neonatal health.
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This work provides a structural analysis of small-scale 3D-printed wind turbine ribs subjected to compression. The ribs were manufactured according to NACA 23015 and NACA 633618 geometries, with polylactic acid (PLA) and polylactic acid with carbon fiber additives (CF-PLA). In addition, holes were manufactured into the sample bodies by either 3D printing or drilling for being compared with solid samples. The compression testing was performed by following the ASTM 695D standard, whereas the beginning and propagation of delamination were assessed with the ASTM 5528 standard. Experimental results revealed that 3D-printed built-in holes provided higher compression strength, hence higher structural efficiency, than the drilled samples. Significant improvement by adding carbon fiber additives into the PLA resin system in comparison to raw PLA was detected for at least one of the studied airfoil profiles. NACA geometries also represented a key parameter for avoiding stress concentration areas, as the FEM modeling supported. However, in damaged areas, fracture mechanisms were observed such as bead-bridging, which is a key parameter in reinforcing and consolidating the specimen bodies. Working in better interphase bonding and different additives between beads and layers is highly suggested for future studies.
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Multiple fault identification in induction motors is essential in industrial processes due to the high costs that unexpected failures can cause. In real cases, the motor could present multiple faults, influencing systems that classify isolated failures. This paper presents a novel methodology for detecting multiple motor faults based on quaternion signal analysis (QSA). This method couples the measured signals from the motor current and the triaxial accelerometer mounted on the induction motor chassis to the quaternion coefficients. The QSA calculates the quaternion rotation and applies statistics such as mean, variance, kurtosis, skewness, standard deviation, root mean square, and shape factor to obtain their features. After that, four classification algorithms are applied to predict motor states. The results of the QSA method are validated for ten classes: four single classes (healthy condition, unbalanced pulley, bearing fault, and half-broken bar) and six combined classes. The proposed method achieves high accuracy and performance compared to similar works in the state of the art.
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Algoritmos , IndústriasRESUMO
Purposes: Most molecular-based published studies on breast cancer do not adequately represent the unique and diverse genetic admixture of the Latin American population. Searching for similarities and differences in molecular pathways associated with these tumors and evaluating its impact on prognosis may help to select better therapeutic approaches. Patients and Methods: We collected clinical, pathological, and transcriptomic data of a multi-country Latin American cohort of 1,071 stage II-III breast cancer patients of the Molecular Profile of Breast Cancer Study (MPBCS) cohort. The 5-year prognostic ability of intrinsic (transcriptomic-based) PAM50 and immunohistochemical classifications, both at the cancer-specific (OSC) and disease-free survival (DFS) stages, was compared. Pathway analyses (GSEA, GSVA and MetaCore) were performed to explore differences among intrinsic subtypes. Results: PAM50 classification of the MPBCS cohort defined 42·6% of tumors as LumA, 21·3% as LumB, 13·3% as HER2E and 16·6% as Basal. Both OSC and DFS for LumA tumors were significantly better than for other subtypes, while Basal tumors had the worst prognosis. While the prognostic power of traditional subtypes calculated with hormone receptors (HR), HER2 and Ki67 determinations showed an acceptable performance, PAM50-derived risk of recurrence best discriminated low, intermediate and high-risk groups. Transcriptomic pathway analysis showed high proliferation (i.e. cell cycle control and DNA damage repair) associated with LumB, HER2E and Basal tumors, and a strong dependency on the estrogen pathway for LumA. Terms related to both innate and adaptive immune responses were seen predominantly upregulated in Basal tumors, and, to a lesser extent, in HER2E, with respect to LumA and B tumors. Conclusions: This is the first study that assesses molecular features at the transcriptomic level in a multicountry Latin American breast cancer patient cohort. Hormone-related and proliferation pathways that predominate in PAM50 and other breast cancer molecular classifications are also the main tumor-driving mechanisms in this cohort and have prognostic power. The immune-related features seen in the most aggressive subtypes may pave the way for therapeutic approaches not yet disseminated in Latin America. Clinical Trial Registration: ClinicalTrials.gov (Identifier: NCT02326857).
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Abstract Background: Vitamin D (VD) deficiency has been inversely associated with parathyroid hormone (PTH) levels in the adult population but not in children and adolescents. This study aimed to report VD concentration and its correlation with PTH levels in a sample of healthy Mexican children. Methods: We conducted a cross-sectional study with 275 healthy Mexican subjects aged 2 to 17 years to estimate the status of 25-(OH)-D and its correlation with PTH levels. The 25-(OH)-D levels were estimated by liquid chromatography-tandem mass spectrometry and PTH by radioimmunoassay. Results: Subjects were categorized as young children (2 to 5 years), school children (6 to 10 years), and adolescents (11 to 17 years). The median concentration of 25-(OH)-D in young children was 27.4 ng/ml; in school children, 25.6 ng/ml; and adolescents, 24.7 ng/ml. VD levels < 20 ng/ml were found in only 10.5% of the participants. Only 3% of the young children showed VD deficiency, in contrast to 10% of school children and 21% of adolescents (p ≤ 0.05). PTH was found within normal ranges in 95.6% of the studied population. VD levels < 20 mg/dl were found in 25.8% of children with overweight or obesity (p = 0.009). Conclusions: VD levels < 20 ng/ml were observed in 10% of the studied group, but this percentage increased with age: 21% of the adolescents showed VD levels < 20 ng/ml. No correlation with PTH levels was found. The VD values reported in this study are lower than those previously reported in Mexican children.
Resumen Introducción: La deficiencia de vitamina D se ha asociado inversamente con la concentración de hormona paratiroidea (PTH) en los adultos, pero no en los niños y adolescentes. El objetivo de este estudio fue reportar la concentración de vitamina D y su correlación con la concentración de PTH en una muestra de niños mexicanos sanos. Métodos: Se llevó a cabo un estudio transversal con 275 mexicanos sanos de 2 a 17 años de edad en quienes se estimaron las concentraciones de 25-(OH)-D utilizando cromatografía líquida con espectrometría de masas y de PTH por radioinmunoensayo, y su correlación. Resultados: Los participantes se categorizaron como prescolares (2 a 5 años), escolares (6 a 10 años) y adolescentes (11 a 17 años). La mediana de la concentración de 25-(OH)-D en los prescolares fue de 27.4 ng/ml, en los escolares de 25.6 ng/ml y en los adolescentes de 24.7 ng/ml. Solo en el 10.5% de los participantes se encontraron valores de vitamina D < 20 ng/ml. En contraste con el 10% de los escolares y el 21% de los adolescentes, solo el 3% de los prescolares mostraron deficiencia de vitamina D (p ≤ 0.05). La PTH se encontró dentro de los límites normales en el 95.6% de la población estudiada. Se encontraron concentraciones de vitamina D < 20 mg/dl en el 25.8% de los niños con sobrepeso y obesidad (p = 0.009). Conclusiones: Solo en el 10% de los participantes se encontraron concentraciones de vitamina D < 20 ng/ml, pero este porcentaje aumento con la edad y se hallaron valores < 20 ng/ml en el 21% de los adolescentes. La PTH se encontró dentro de los valores normales. Las concentraciones de vitamina D en este estudio resultaron menores que las previamente reportadas en niños mexicanos.
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BACKGROUND: Vitamin D (VD) deficiency has been inversely associated with parathyroid hormone (PTH) levels in the adult population but not in children and adolescents. This study aimed to report VD concentration and its correlation with PTH levels in a sample of healthy Mexican children. METHODS: We conducted a cross-sectional study with 275 healthy Mexican subjects aged 2 to 17 years to estimate the status of 25-(OH)-D and its correlation with PTH levels. The 25-(OH)-D levels were estimated by liquid chromatography-tandem mass spectrometry and PTH by radioimmunoassay. RESULTS: Subjects were categorized as young children (2 to 5 years), school children (6 to 10 years), and adolescents (11 to 17 years). The median concentration of 25-(OH)-D in young children was 27.4 ng/ml; in school children, 25.6 ng/ml; and adolescents, 24.7 ng/ml. VD levels < 20 ng/ml were found in only 10.5% of the participants. Only 3% of the young children showed VD deficiency, in contrast to 10% of school children and 21% of adolescents (p ≤ 0.05). PTH was found within normal ranges in 95.6% ofthe studied population. VD levels < 20 mg/dl were found in 25.8% of children with overweight or obesity (p = 0.009). CONCLUSIONS: VD levels < 20 ng/ml were observed in 10% of the studied group, but this percentage increased with age:21% of the adolescents showed VD levels < 20 ng/ml. No correlation with PTH levels was found. The VD values reported inthis study are lower than those previously reported in Mexican children.
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Deficiência de Vitamina D , Vitamina D , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Humanos , Obesidade , Hormônio Paratireóideo , Deficiência de Vitamina D/epidemiologiaRESUMO
BACKGROUND: Inflammatory fibroid polyps (IFP), known as Vanek tumors, are benign neoplasms, usually located in the stomach and small bowel. The prognosis is good in long term. CLINICAL CASE: We report a 24-year-old woman, with 3 days history of abdominal pain located in the epigastrium, accompanied by melenic evacuations and weight loss since the last month, making the diagnosis of inflammatory fibroid gastric polyp by means of the upper endoscopy and biopsy. CONCLUSIONS: IFP are extremely rare neoplasms in the Mexican population. The symptoms range from asymptomatic, epigastralgia, anemia, and weight loss to intestinal obstruction. Its diagnosis is histopathological.
ANTECEDENTES: Los pólipos inflamatorios fibroideos, conocidos como tumores de Vanek, son neoplasias benignas localizadas en el antro gástrico y en el intestino delgado. El pronóstico es bueno a largo plazo. CASO CLÍNICO: Mujer de 24 años, ingre sada por 3 días de evolución con epigastralgia, acompañada de evacuaciones melénicas y pérdida de peso de 2 kg en el último mes. Se diagnostica, por endoscopía y biopsia, un pólipo inflamatorio fibroideo gástrico. CONCLUSIONES: Los pólipos inflamatorios fibroideos gástricos son neoplasias extremadamente raras en la población mexicana. Sus síntomas varían desde cuadros asintomáticos, epigastralgias, anemia y pérdida de peso hasta obstrucción intestinal. Su diagnóstico es histopatológico.
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Laparoscopia , Leiomioma , Pólipos , Adulto , Feminino , Gastrectomia , Gastroscopia , Humanos , Leiomioma/cirurgia , Pólipos/cirurgia , Adulto JovemRESUMO
This study investigated the intestinal microbial community structure of Litopenaeus vannamei at six different stages during shrimp farming. Our goal was to elucidate the bacterial profile and the changes in the relative abundance of taxa during an atypical massive mortality event in Sonora, Mexico. High-throughput sequencing of the 16S rRNA gene and denaturing gradient gel electrophoresis showed that Vibrionaceae was persistent with high relative abundances in the intestine from cultivated shrimp during all the studied stages. The massive mortality observed at day 63 could be related to an overabundance of different Operational Taxonomic Units (OTUs) of Vibrio, Shewanella and Clostridium. Principal coordinate analysis (PCoA) showed variations in microbial structure at different culture times. These findings suggest that OTUs of different taxa contributed to the community switch from healthy to diseased individuals, questioning the hypothesis that single bacterial species is the cause of disease outbreaks. This study provided data to improve the understanding of disease outbreaks during shrimp farming.
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Microbioma Gastrointestinal , Penaeidae , Animais , Bactérias/genética , Microbioma Gastrointestinal/genética , Humanos , México , Penaeidae/genética , RNA Ribossômico 16S/genéticaRESUMO
Despite preliminary reports of ants trapped in food-baited fruit fly traps, little is known regarding the identity of the myrmecofauna that can be sampled using this technique. This study aimed to examine the inventory completeness, activity and species occurrence of canopy ant assemblages collected in baited traps used for monitoring fruit flies in different fruit orchards in central Veracruz, Mexico. The trap models used in the sampling were Multilure, McPhail glass, and 500 ml blue polyethylene bottles. Three commercial fruit fly food attractants (CeraTrap, Captor + Borax, and BioLure) and two grape juice products (Jumex grape juice and Tang) were used as baits for sampling. In total 3,626 ant workers belonging to 54 species, 19 genera, 10 tribes, and 5 subfamilies were collected. Among the five food attractants used in this study, CeraTrap recorded a markedly higher inventory completeness, ant activity and species occurrence per trap. This study reports for the first time the use of CeraTrap, as a promising and effective food attractant for collecting the foraging ants in the canopy of agroecosystems, which may be applicable to other habitats such as natural forests, mangroves, or agricultural settings such as coffee plantations.
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Formigas , Biodiversidade , Controle de Insetos/métodos , Controle Biológico de Vetores/métodos , Animais , Ecossistema , México , Tephritidae , ÁrvoresRESUMO
Desde el 70 al 80 Aniversario de la fundación del Instituto de Medicina Tropical "Pedro Kourí", los investigadores, profesionales y técnicos de este centro, han laborado en cooperación con diversas instituciones académicas y de los servicios de salud de Cuba (en equipos multidisciplinarios) en las tareas de desarrollo científico, innovación tecnológica y construcción de capacidades. Este artículo resume las principales investigaciones realizadas sobre la tuberculosis desde 2008-2017; como contribuciones al Programa Nacional de Control y Eliminación de la Tuberculosis con la perspectiva de aumentar la calidad, efectividad y eficiencia de las acciones y acelerar la solución de la incidencia y la mortalidad por tuberculosis, para la investigación, la vigilancia y control de la tuberculosis. Se presentan evidencias que fundamentan las innovaciones en el manejo clínico terapéutico de pacientes inmunocompetentes e inmunocomprometidos, en niños y adolescentes, sobre las indicaciones para el control de la infección tuberculosa latente, la vigilancia de los desenlaces del tratamiento anti-tuberculosis, la investigación de contactos de casos, los cambios en el sistema de registro e información, el monitoreo y evaluación de la calidad de la detección de casos de tuberculosis, el impacto sobre la morbilidad y la mortalidad.
During the period extending from the 70th to the 80th anniversary of the founding of Pedro Kouri Tropical Medicine Institute, researchers, professionals and technicians from the center, in joint cooperation with a variety of Cuban academic and health care institutions, have integrated into multidisciplinary teams engaged in tasks related to scientific development, technological innovation and capacity building. The paper summarizes the main research studies about tuberculosis conducted from 2008 to 2017 as contributions to the National Tuberculosis Control and Elimination Program, with a view to enhancing the quality, effectiveness and efficiency of actions, swiftly finding a solution to tuberculosis incidence and mortality, and fostering tuberculosis research, surveillance and control. Evidence is presented which substantiates innovations in the clinical therapeutic management of both immunocompetent and immunocompromised patients, children and adolescents, and indications are provided for latent tuberculosis infection control, surveillance of anti-tuberculosis treatment outcomes, investigation of case contacts, changes in the record and information system, quality monitoring and evaluation of the detection of tuberculosis cases, and impact on morbidity and mortality.
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The prokaryotic abundance and diversity in three cold, oligotrophic Patagonian lakes (Témpanos, Las Torres and Mercedes) in the northern region Aysén (Chile) were compared in winter and summer using 16S rRNA fluorescence in situ hybridization and PCR-denaturing gradient gel electrophoresis technique. Prokaryotic abundances, numerically dominated by Bacteria, were quite similar in the three lakes, but higher in sediments than in waters, and they were also higher in summer than in winter. The relative contribution of Archaea was greater in waters than in sediments, and in winter rather than in summer. Despite the phylogenetic analysis indicated that most sequences were affiliated to a few taxonomic groups, mainly referred to Proteobacteria (consisting of Beta-, Alpha- and Gammaproteobacteria) and Euryarchaeota (mainly related to uncultured methanogens), their relative abundances differed in each sample, resulting in different bacterial and archaeal assemblages. In winter, the abundance of the dominant bacterial phylotypes were mainly regulated by the increasing levels of total organic carbon in waters. Archaeal abundance and richness appeared mostly influenced by pH in winter and total nitrogen content in summer. The prokaryotic community composition at Témpanos lake, located most northerly and closer to a glacier, greatly differed in respect to the other two lakes. In this lake was detected the highest bacterial diversity, being Betaproteobacteria the most abundant group, whereas Alphaproteobacteria were distinctive of Mercedes. Archaeal community associated with sediments was mainly represent by members related to the order of Methanosarcinales at Mercedes and Las Torres lakes, and by Crenarchaeota at Témpanos lake. Our results indicate that the proximity to the glacier and the seasonality shape the composition of the prokaryotic communities in these remote lakes. These results may be used as baseline information to follow the microbial community responses to potential global changes and to anthropogenic impacts.
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Biodiversidade , Lagos/microbiologia , Células Procarióticas/classificação , Microbiologia da Água , Archaea/classificação , Archaea/genética , Bactérias/classificação , Bactérias/genética , Chile , Meio Ambiente , Geografia , Sedimentos Geológicos/química , Sedimentos Geológicos/microbiologia , Lagos/química , Filogenia , RNA Ribossômico 16S/genética , Estações do AnoRESUMO
Riparian vegetation is a distinctive and ecologically important element of landscapes worldwide. However, the relative influence of the surrounding landscape on the conservation of the biodiversity of riparian remnants in human-modified tropical landscapes is poorly understood. We studied the surrounding landscape to evaluate its influence on leaf-litter-ant alpha and beta diversity in riparian remnants in the tropical montane cloud forest region of central Veracruz, Mexico. Sampling was carried out in 12 sites with riparian vegetation during both rainy (2011) and dry (2012) seasons. Ten leaf-litter samples were collected along a 100-m transect per site and processed with Berlese-Tullgren funnels and Winkler sacks. Using remotely-sensed and ground-collected data, we characterized the landscape around each site according to nine land cover types and computed metrics of landscape composition and configuration. We collected a total of 8,684 ant individuals belonging to 53 species, 22 genera, 11 tribes, and 7 subfamilies. Species richness and the diversity of Shannon and Simpson increased significantly in remnants immersed in landscapes with a high percentage of riparian land cover and a low percentage of land covers with areas reforested with Pinus, cattle pastures, and human settlements and infrastructure. The composition of ant assemblages was a function of the percentage of riparian land cover in the landscape. This study found evidence that leaf-litter ants, a highly specialized guild of arthropods, are mainly impacted by landscape composition and the configuration of the focal remnant. Maintaining or improving the surrounding landscape quality of riparian vegetation remnants can stimulate the movement of biodiversity among forest and riparian remnants and foster the provision of ecosystem services by these ecosystems. Effective outcomes may be achieved by considering scientific knowledge during the early stages of riparian policy formulation, in addition to integrating riparian management strategies with broader environmental planning instruments.
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Distribuição Animal/fisiologia , Formigas/fisiologia , Floresta Úmida , Animais , Formigas/classificação , Biodiversidade , Bovinos , Ecossistema , Herbivoria/fisiologia , México , Pinus/fisiologia , Folhas de Planta/química , Rios , Estações do Ano , Solo , Árvores/fisiologiaRESUMO
A previously established chronosequence from Pia Glacier forefield in Tierra del Fuego (Chile) containing soils of different ages (from bare soils to forest ones) is analyzed. We used this chronosequence as framework to postulate that microbial successional development would be accompanied by changes in functionality. To test this, the GeoChip functional microarray was used to identify diversity of genes involved in microbial carbon and nitrogen metabolism, as well as other genes related to microbial stress response and biotic interactions. Changes in putative functionality generally reflected succession-related taxonomic composition of soil microbiota. Major shifts in carbon fixation and catabolism were observed, as well as major changes in nitrogen metabolism. At initial microbial dominated succession stages, microorganisms could be mainly involved in pathways that help to increase nutrient availability, while more complex microbial transformations such as denitrification and methanogenesis, and later degradation of complex organic substrates, could be more prevalent at vegetated successional states. Shifts in virus populations broadly reflected changes in microbial diversity. Conversely, stress response pathways appeared relatively well conserved for communities along the entire chronosequence. We conclude that nutrient utilization is likely the major driver of microbial succession in these soils. [Int Microbiol 19(3):161-173 (2016)].
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Camada de Gelo/microbiologia , Microbiologia do Solo , Carbono/metabolismo , Ciclo do Carbono , Chile , Ecologia , Nitrogênio/metabolismo , Análise de Sequência com Séries de OligonucleotídeosRESUMO
La Homocistinuria, es un desorden metabólico autosómico recesivo, cuya forma clásica es causada por deficiencia de cistationina β-sintasa, debido a mutaciones en el gen CBS (Cr 21q22.3). Se describe el caso de un varón de 17 años con hipopigmentación de piel y faneras, retraso psicomotor moderado, hábito marfanoide, miopía severa, subluxación del cristalino bilateral, que además presentó eventos psicóticos y una hemiparesia izquierda secundaria a un infarto lacunar. La determinación de homocisteína en plasma se encontró elevada (>9,9mg/dl), así como niveles altos de nitroprusiato de sodio en orina (4+) que confirmaron el diagnóstico clínico de homocistinuria. La homocistinuria clásica genera múltiples complicaciones a nivel dérmico, oftalmológico, cognitivo, osteoarticular y psiquiátrico; que podrían evitarse con un diagnóstico y tratamiento oportuno a través del tamizaje neonatal, aún no disponible en la mayoría de centros asistenciales en el Perú...
Homocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, due to mutations within the CBS gene (Cr21q22.3). Herein we report a 17 year old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to a lacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of newborn screening, which is still unavailable in Peru...
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Humanos , Masculino , Adolescente , Diagnóstico Tardio , Doenças Metabólicas , Homocistinúria , Homocistinúria/diagnóstico , Homocistinúria/terapia , PeruRESUMO
Riparian remnants are linear strips of vegetation immediately adjacent to rivers that may act as refuges for biodiversity, depending on their habitat quality. In this study, we evaluated the role of riparian remnants in contributing to the diversity of leaf-litter ants by determining the relationship between ant diversity and several riparian habitat characteristics within a human-dominated landscape in Veracruz, Mexico. Sampling was carried out in 2012 during both dry and rainy seasons at 12 transects 100 m in length, where 10 leaf-litter samples were collected along each transect and processed with Berlese-Tullgren funnels and Winkler sacks. A total of 8,684 individuals belonging to 53 species, 22 genera, and seven subfamilies were collected. The observed mean alpha diversity accounted for 34.4% of the total species recorded and beta diversity for 65.6%. Species richness and composition were significantly related to litter-layer depth and soil compaction, which could limit the distribution of ant species depending on their nesting, feeding, and foraging habits. Riparian remnants can contribute toward the conservation of ant assemblages and likely other invertebrate communities that are threatened by anthropogenic pressures. In human-dominated landscapes where remnants of riparian vegetation give refuge to a diverse array of myrmecofauna, the protection of the few remaining and well-preserved riparian sites is essential for the long-term maintenance of biodiversity.
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Formigas/classificação , Biodiversidade , Ecossistema , Animais , México , Plantas , Estações do Ano , SoloRESUMO
BACKGROUND: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, frequent absence of family history and low number of CAG repeats. The clinical and molecular features of late onset HD is still understudied in Latin America. OBJECTIVES: To describe the clinical and molecular characteristics of late onset HD in a Peruvian cohort. METHODS: An observational study was carried out by reviewing the HD registry at the Neurogenetics Research Center-INCN from 2000 to 2014. Genotyping of HTT gene was confirmed using standard PCR and PAGE in accordance to protocols previously established. RESULTS: Thirty-one late onset HD cases from 27 pedigrees were identified (9.42% of total HD cases, n = 329), 51.61% were male. Mean age at onset was 64.1 ± 4.2 and CAG repeats mean was 42.5 ± 2.5. We did not find significant correlation between age at onset and CAG repeats. 33.3% of cases were traced back to Cañete valley. Twenty-two cases had a positive family history, 14 of them with paternal transmission. Choreic movements and cognitive impairment were the main existing manifestations reported in this cohort, with lower frequency of psychiatric disturbances. CONCLUSIONS: This report of late onset HD affected individuals shows a mild phenotype expression of the disease, associated with low range of CAG repeats and up to 30% of cases with absence of clear family history. Cañete valley remains the region with more cases.
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Doença de Huntington/genética , Proteínas do Tecido Nervoso/genética , Expansão das Repetições de Trinucleotídeos/genética , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Humanos , Proteína Huntingtina , Doença de Huntington/epidemiologia , Doença de Huntington/fisiopatologia , Masculino , Pessoa de Meia-Idade , Peru/epidemiologiaRESUMO
Gastroenteritis is a clinical illness of humans and other animals that is characterized by vomiting and diarrhea and caused by a variety of pathogens, including viruses. An increasing number of viral species have been associated with gastroenteritis or have been found in stool samples as new molecular tools have been developed. In this work, a DNA microarray capable in theory of parallel detection of more than 100 viral species was developed and tested. Initial validation was done with 10 different virus species, and an additional 5 species were validated using clinical samples. Detection limits of 1 × 10(3) virus particles of Human adenovirus C (HAdV), Human astrovirus (HAstV), and group A Rotavirus (RV-A) were established. Furthermore, when exogenous RNA was added, the limit for RV-A detection decreased by one log. In a small group of clinical samples from children with gastroenteritis (n = 76), the microarray detected at least one viral species in 92% of the samples. Single infection was identified in 63 samples (83%), and coinfection with more than one virus was identified in 7 samples (9%). The most abundant virus species were RV-A (58%), followed by Anellovirus (15.8%), HAstV (6.6%), HAdV (5.3%), Norwalk virus (6.6%), Human enterovirus (HEV) (9.2%), Human parechovirus (1.3%), Sapporo virus (1.3%), and Human bocavirus (1.3%). To further test the specificity and sensitivity of the microarray, the results were verified by reverse transcription-PCR (RT-PCR) detection of 5 gastrointestinal viruses. The RT-PCR assay detected a virus in 59 samples (78%). The microarray showed good performance for detection of RV-A, HAstV, and calicivirus, while the sensitivity for HAdV and HEV was low. Furthermore, some discrepancies in detection of mixed infections were observed and were addressed by reverse transcription-quantitative PCR (RT-qPCR) of the viruses involved. It was observed that differences in the amount of genetic material favored the detection of the most abundant virus. The microarray described in this work should help in understanding the etiology of gastroenteritis in humans and animals.
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Gastroenterite/diagnóstico , Gastroenterite/virologia , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Viroses/diagnóstico , Viroses/virologia , Vírus/classificação , Vírus/genética , Pré-Escolar , Gastroenterite/epidemiologia , Humanos , Lactente , Recém-Nascido , Análise de Sequência com Séries de Oligonucleotídeos/normas , Prevalência , Reprodutibilidade dos Testes , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sensibilidade e Especificidade , Viroses/epidemiologiaRESUMO
Bacterial colonisation and infection remain the major causes of delayed healing and graft rejection following burns. Topical treatment is necessary to reduce the incidence of burn wound infection. Silver sulphadiazine (SD-Ag) is an often used microbicidal agent. However, this treatment produces adverse reactions and side-effects. On the basis of experimental data and clinical application of lactobacilli as probiotics, we performed this exploratory study to establish the effectiveness of bacteriotherapy with topical application of the innocuous bacteria Lactobacillus plantarum cultured in De Man, Rogosa and Sharpe medium to provide an alternative method for burn treatment using SD-Ag as a reference. These innocuous bacteria would compete with other bacteria that are wound pathogens and would modify the wound environment and promote tissue repair. Eighty burned patients from the Plastic Surgery and Burns Unit were grouped into infected (delayed) second- and third-degree and non infected (early) third-degree burns and treated with L. plantarum or SD-Ag. The proportion of patients with delayed second-degree burns was 0.71 for L. plantarum and 0.73 for SD-Ag (relative rate: -2.72%) with respect to the decrease in bacterial load (<10(5) bacteria/g of tissue), promotion of granulating tissue wound bed and healing. In early third-degree burns, the values were 0.75 for L. plantarum and 0.84 for SD-Ag (relative rate: -1.07%) in preventing wound infection and promotion of granulation tissue, 0.90 in graft taking for both treatments (relative rate: 0%) and 0.75 for L. plantarum and 0.77 for SD-Ag (relative rate: -2.60%) in healing. In delayed third-degree burns, values were 0.83 for L. plantarum and 0.71 for SD-Ag (relative rate: +16.90%) with respect to the decrease in the bacterial load (<10(5) bacteria/g of tissue) and providing a granulating tissue wound bed, 0.90 in graft taking for both treatments (relative rate: 0%) and 0.75 for L. plantarum and 0.64 for SD-Ag (relative rate: + 17.19%) in healing. Although the number of patients (between 12 and 15 per group) did not enable the application of a power statistical test, these results suggest that the L. plantarum treatment should be studied in greater depth and could be used as a valid alternative for the topical treatment of burns.
Assuntos
Queimaduras/terapia , Infecções por Bactérias Gram-Negativas/terapia , Infecções por Bactérias Gram-Positivas/terapia , Lactobacillus plantarum , Infecção dos Ferimentos/terapia , Administração Tópica , Adolescente , Adulto , Antibiose , Queimaduras/microbiologia , Queimaduras/patologia , Feminino , Seguimentos , Infecções por Bactérias Gram-Negativas/patologia , Infecções por Bactérias Gram-Positivas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Transplante de Pele , Resultado do Tratamento , Cicatrização , Infecção dos Ferimentos/patologia , Adulto JovemRESUMO
Estrous cycle in mammals includes marked epithelial changes in reproductive tract, regulated by sex steroid hormones. In the present work we studied the activation of caspases and apoptotic pattern in uterine epithelial cells during proestrus and estrus, and the effect of mating in this process. In addition, we investigated the role of seminal vesicle secretions on apoptosis of uterine epithelia. Apoptotic index was evaluated by TUNEL assay, caspases-8, -9, and -3 activation was detected by Western blot and active caspase-3 expression was detected by immunohistochemistry. Our results show that mating during proestrus and estrus transition induced changes in the apoptotic pattern of uterine luminal epithelium during estrus, characterized by a delay in the onset of apoptosis as compared with that observed in nonmated rats. No differences in the apoptotic pattern in the glandular epithelium between mated and nonmated rats were observed. Seminal vesicle secretions inhibited luminal epithelium apoptosis, while no changes in glandular epithelium apoptosis were observed. We also demonstrate that activation of caspases-8, -9, and -3 occurred in both mated and nonmated rats. Active caspase-3 was detected in the luminal and glandular epithelium in both nonmated and mated rats. The overall results indicate that mating delays but does not prevent the cellular death of the rat uterine luminal epithelium and seminal vesicle secretions are involved in this delay. Finally, the activation of both the mitochondrial and the membrane receptor pathways of cell death are implicated in the molecular mechanism of uterine apoptosis.
Assuntos
Apoptose/fisiologia , Células Epiteliais/fisiologia , Ciclo Estral/fisiologia , Comportamento Sexual Animal/fisiologia , Útero/citologia , Animais , Caspases/metabolismo , Ativação Enzimática , Células Epiteliais/citologia , Estradiol/sangue , Feminino , Masculino , Progesterona/sangue , Ratos , Ratos Wistar , Glândulas Seminais/metabolismoRESUMO
Poly-beta-hydroxyalkanoate (PHA) is a biodegradable polymer accumulated in intracellular granules by different bacterial species. Its physical and chemical properties are similar to those of petroleum-derived plastics. Material generated by the acid hydrolysis of wood was evaluated for use in the bacterial synthesis of PHA. Acid-hydrolyzed sawdust was prepared and adjusted to pH 7. Mineral salts with carbon:nitrogen (C:N) proportions of 100:1, 100:3.5, 100:10, 100:30, or 100:50 and trace elements were added and these solutions were inoculated with a bacterial strain Brevundimonas vesicularis LMG P-23615 or Sphingopyxis macrogoltabida LMG 17324. The percentage of cells accumulating PHA was evaluated by flow cytometry. The hydrolyzed sawdust composition was analyzed by gas chromatography-mass spectrometry (GC-MS) and high performance liquid chromatography (HPLC). The organic material (601.5 mg l(-1)) contained 112.5 mg l(-1) sugars. Over 96% of these sugars were consumed and more than 90% of the bacterial cells accumulated PHA. The 100:3.5 C:N proportion was optimal for growth and PHA synthesis, with yields ranging from 64% to 72% of the dry cell weight. The results suggest that acid-hydrolyzed sawdust can be used by bacteria as a carbon source for growth and PHA production. This forestry by sub-product offers a low-cost alternative for obtaining biodegradable plastics (e.g., PHA) synthesized by bacteria.