ERK1/2 modulation in the central nervous system of male and female thiamine-deficient mice with amprolium.

Thiamine deficiency experimental models focus on using the pyrithiamine analog in male rodents, making the thiamine deficiency effects in females and the use of other thiamine antagonists, such as amprolium, unknown. We investigated the impact of thiamine deficiency with amprolium in the cerebral cortex and thalamus of male and female mice by evaluating the modulation of ERK1/2 phosphorylation. The animals were exposed for 20 days to thiamine-deficient chow with different doses of amprolium (20, 40, 60 and 80 mg/kg) and at different treatment periods (five, 10, 15 or 20 days) at a dose of 60 mg/kg. After treatments, ERK1/2 phosphorylation was analyzed by western blot. In male mice, we observed a progressive increase in ERK1/2 phosphorylation in both the cerebral cortex and thalamus in response to the dose of amprolium. In females, ERK1/2 phosphorylation did not progressively increase in response to the amprolium dosage. However, an increase in phosphorylation at the higher doses of 60 and 80 mg/kg was observed. We observed a more intense increase in ERK1/2 phosphorylation in males' cerebral cortex and thalamus from 10 days onwards. In females, the ERK1/2 modulation profiles were similar. The results show that thiamine deficiency induction with amprolium is efficient, compatible with other recognized models that use pyrithiamine, showing changes in cell signaling in the nervous system. The study showed differences in response to thiamine deficiency with amprolium between male and female mice in relation to ERK1/2 phosphorylation and demonstrated that females respond positively to the method and can also be used as model animals.

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here an 18-year-old male who reported a cervical nodule. Magnetic resonance images revealed a mass in the ethmoidal sinus corresponding to rhabdomyosarcoma. As his father died from malignant hyperthermia (MH), an in vitro contracture test was conducted and was positive for MH susceptibility. Muscle histopathological analysis in the biopsy showed the presence of cores. Molecular analysis using NGS sequencing identified germline variants in the RYR1 and ASPSCR1 (alveolar soft part sarcoma) genes. This report expands the spectrum of diseases associated with rhabdomyosarcomas and a possible differential diagnosis of soft tissue tumors in patients with RYR1 variants.

Molecular phylogeny of Urvillea (Paullinieae, Sapindaceae) and its implications in stem vascular diversity.

BACKGROUND AND AIMS: The tribe Paullinieae has the highest diversity of vascular variants among the seed plants. The developmental diversity is better understood in the species-rich genera Paullinia and Serjania; however, the phylogeny and diversity of vascular variants in the smaller genera of Paullinieae remain understudied. Here we investigate the evolution of development of stem vasculatures in the small genus Urvillea. METHODS: We generate the first molecular phylogeny of Urvillea derived from 11 markers using a maximum likelihood and Bayesian approach. In combination with phylogenetic reconstruction, stochastic character mapping is used to assess evolutionary changes in stem ontogenies, determined from developmental anatomy of stems collected in the field or from herbarium and wood collections. KEY RESULTS: Urvillea is supported as a monophyletic group and sister to Serjania. There are five stem ontogenies in Urvillea, including typical growth and four different vascular variants. Most stem ontogenies initiate with lobed stems in primary growth. Lobed stems in secondary growth are ancestral in Urvillea, but this ontogeny was lost multiple times. A reversal to typical growth occurred in non-climbing species. Phloem wedges, fissured stems, and ectopic cambia each evolved once independently. Phloem wedges is an intermediate developmental stage in the formation of fissured stems, which is characterized by a continuous fragmentation of vascular tissues. Lobed stems may generate constriction zones and lobes may split or not. CONCLUSIONS: Urvillea is the third most diverse genus (after Serjania and Paullinia) with respect to the number of vascular variants within Paullinieae. One ontogeny (fissured stems) is exclusive to the genus. Differential cambial activity and ectopic cambia are the main ontogenetic processes generating stem diversity. The evolutionary history of vascular variants demonstrates the large developmental plasticity of the cambium in such a small genus and further demonstrates that complex anatomies have repeatedly evolved within Paullinieae lianas.

Gongylonema sp. in the Tongue of a Brown-Nosed Coati (Nasua nasua) from the Brazilian Atlantic Forest.

Two parasites were collected from the epithelial layer of the tongue mucosa of a brown-nosed coati (Nasua nasua) in an area of Atlantic Forest in Minas Gerais State, Brazil. These were identified as female Gongylonema sp. nematodes, not previously reported in Brazilian wild carnivores.

Impacts of a Multi-Professional Family versus Isolated Intervention on Food Level Processing in Overweight Adolescents: A Randomized Trial.

The food consumption of adolescents has changed nowadays, with an increase in ultra-processed food that in general shows higher calories and lower nutrients. Because of this, the objective of this study was to investigate the impacts of a 12-week multi-professional family versus isolated intervention on the food level processing of overweight adolescents. A randomized clinical trial study was carried out in which adolescents (n = 43; mean aged 13.73 years) who were divided into FG-family group (n = 21; the adolescents performed the activities with their parents) and IG-isolated group (n = 22; the adolescents performed the activities alone). The parameters measured before and after 12 weeks of multi-professional intervention (physical exercise, nutrition and psychoeducation) were: body mass, height and body mass index-BMI. The level of food processing was analyzed using a three-day food recall (24hR), classified according to the Food Guide for the Brazilian Population (fresh, minimally, processed and ultra-processed foods). The main results show that there was only a significant reduction in the consumption of processed foods (FG: 7.93%; IG: 49.73%) and ultra-processed foods (FG: 35.06%; IG: 67.16%) in grams (FG: 22.29%; IG: 65.23%) and calories (p < 0.05; for all comparisons). The consumption of fresh foods in grams (FG:61.97%; IG: 147.13%) and calories (FG: 147.13%; IG: 118.03%) and minimally processed foods (FG: 27.45%; IG: 14.64%) in grams increased significantly (p < 0.05; for all comparisons). However, no significant differences were observed between all variables analyzed for the groups, nor any interaction (p > 0.05). In conclusion, both groups who participated in the activities showed positive changes with increased consumption of fresh foods and reduced consumption of processed foods, without difference between them.

Effects of Photobiomodulation on High-Intensity Intermittent Anaerobic Performance of Lower Limbs in Brazilian Jiu-Jitsu Athletes: A Randomized, Crossover, Double-Blind Clinical Trial.

Photobiomodulation (PBM) has ergogenic effects on aerobic and anaerobic efforts and may improve sports performance. As Brazilian jiu-jitsu (BJJ) fighting requires both aerobic and anaerobic metabolism, so PBM may be effective in increasing the physical performance of BJJ athletes. Thus, this study aimed to verify the effects of PBM with different energy doses (6 or 12 J per point) on high-intensity intermittent anaerobic performance in BJJ athletes. METHODS: Eleven male athletes performed three lower limb Wingate testing sessions. At the beginning of each session, in a randomized, crossover, double-blind fashion, the athletes received PBM with a dose of 6 J (4.5 J/cm2) or 12 J (9.1 J/cm2), or placebo (PLA) at 17 points in each lower limb. In each session, the squat jump (SJ) and three Wingate test series were performed, with a 3-minute interval between series. Heart rate (HR) was collected immediately before, after each Wingate test, and at 1, 3, and 5 minutes after the last test. The rate of perceived exertion (RPE) was reported after each Wingate test. Differences between Wingate tests and treatment sessions were set at p<0.05. RESULTS: No differences were observed between treatments in SJ height, Wingate performance, HR, and RPE (p>0.05; for all comparisons). The Wingate test session promoted a reduction in anaerobic capacity in the second and third sets in all conditions, indicating fatigue (p<0.05). CONCLUSION: Treatment with PBM did not produce a dose-dependent ergogenic response in high-intensity intermittent performance in BJJ athletes.

Unitary evolution for a two-level quantum system in fractional-time scenario.

The time-evolution operator obtained from the fractional-time Schrödinger equation (FTSE) is said to be nonunitary since it does not preserve the norm of the vector state in time. As done in the time-dependent non-Hermitian quantum formalism, for a traceless non-Hermitian two-level quantum system, we demonstrate that it is possible to map the nonunitary time-evolution operator in a unitary one. It is done by considering a dynamical Hilbert space with a time-dependent metric operator, constructed from a Hermitian time-dependent Dyson map, in respect to which the system evolves in a unitary way, and the standard quantum mechanics interpretation can be made properly. To elucidate our approach, we consider three examples of Hamiltonian operators and their corresponding unitary dynamics obtained from the solutions of FTSE, and the respective Dyson maps.

Application of the Milan System for Reporting Salivary Gland Cytopathology in pediatric patients: An international, multi-institutional study.

BACKGROUND: Pediatric salivary gland fine-needle aspiration (FNA) is uncommon with a higher frequency of inflammatory lesions and a small proportion of malignancies. This international, multi-institutional cohort evaluated the application of the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) and the risk of malignancy (ROM) for each diagnostic category. METHODS: Pediatric (0- to 21-year-old) salivary gland FNA specimens from 22 international institutions of 7 countries, including the United States, England, Italy, Greece, Finland, Brazil, and France, were retrospectively assigned to an MSRSGC diagnostic category as follows: nondiagnostic, nonneoplastic, atypia of undetermined significance (AUS), benign neoplasm, salivary gland neoplasm of uncertain malignant potential (SUMP), suspicious for malignancy (SM), or malignant. Cytology-histology correlation was performed where available, and the ROM was calculated for each MSRSGC diagnostic category. RESULTS: The cohort of 477 aspirates was reclassified according to the MSRSGC as follows: nondiagnostic, 10.3%; nonneoplastic, 34.6%; AUS, 5.2%; benign neoplasm, 27.5%; SUMP, 7.5%; SM, 2.5%; and malignant, 12.4%. Histopathologic follow-up was available for 237 cases (49.7%). The ROMs were as follows: nondiagnostic, 5.9%; nonneoplastic, 9.1%; AUS, 35.7%; benign neoplasm, 3.3%; SUMP, 31.8%; SM, 100%; and malignant, 100%. Mucoepidermoid carcinoma was the most common malignancy (18 of 237; 7.6%), and it was followed by acinic cell carcinoma (16 of 237; 6.8%). Pleomorphic adenoma was the most common benign neoplasm (95 of 237; 40.1%). CONCLUSIONS: The MSRSGC can be reliably applied to pediatric salivary gland FNA. The ROM of each MSRSGC category in pediatric salivary gland FNA is relatively similar to the ROM of each category in adult salivary gland FNA, although the reported rates for the different MSRSGC categories are variable across institutions.

Provision of intensive care to severely ill pregnant women is associated with reduced mortality: Results from the WHO Multicountry Survey on Maternal and Newborn Health.

OBJECTIVE: To estimate the impact of the use of Intensive Care Units (ICU) in maternal mortality. METHODS: A secondary analysis of the WHO Multicountry Survey on Maternal and Newborn Health, a multicenter cross-sectional study conducted in maternity hospitals in 29 countries. Women who had severe maternal outcome (maternal death or maternal near-miss) and the availability and use of ICU beds were included. The women were categorized according to availability of ICU, and multivariate logistic regression analyses were performed to determine the risk of maternal death. To rate the severity of complications, the Maternal Severity Score (MSS) and the Maternal Severity Index (MSI) were used. RESULTS: Of 314 623 women observed, 24 396 had severe complications. Of those, 16 981 (69.6%) were in facilities with ICUs; 1573 women were admitted to ICUs (6.4% of women with maternal complications and 0.5% of total). There is a significant protective effect for maternal mortality for patients with more severe conditions using ICUs (odds ratio 0.16, 95% confidence interval 0.07-0.33). CONCLUSION: The use of ICU was associated with significantly reduced odds of maternal death in obstetric patients with severe clinical conditions. The availability and appropriate use of good-quality ICUs are therefore crucial to reduce maternal mortality.

Use of Intensive Care Unit in Women with Severe Maternal Morbidity and Maternal Death: Results from a National Multicenter Study.

OBJECTIVE: To assess the use of the intensive care unit (ICU) and its effect on maternal mortality (MM) among women with severe maternal morbidity (SMM). MATERIALS AND METHODS: A secondary analysis of a cross-sectional study on surveillance of SMM in 27 Brazilian obstetric referral centers. The analysis focused on the association between ICU use and maternal death according to individual characteristics and disease severity. Two multivariate regressions considering use of the ICU, age, ethnicity, adequacy of care and the human development index were performed to identify the factors associated to maternal death and maternal near-miss. RESULTS: Out of 82,388 deliveries during the period, there were 9,555 (11.6%) women with SMM, and the MM ratio was of 170.4/100 thousand live births. In total, 8,135 (85.1%) patients were managed in facilities in which ICUs were available; however, only 2,059 (25.3%) had been admitted to the ICU. On the multivariate analysis, when the severity of the maternal disease was measured by the maternal severity score (MMS), the strength of the association between the use of the ICU and maternal death was greatly reduced, along with inadequate care and non-availability of the ICU at the facility. On the assessment of only the more critical cases (SMO, severe maternal outcome), the same pattern of association between ICU and MM was observed. In the models used, only inadequate care and MSS were significantly associated with MM. CONCLUSION: The current study indicates that the main variables associated with maternal death are the severity and adequacy of the case management, which is more frequent in ICU admissions. The use of the ICU without the stratification of the patients by severity may not produce the expected benefits for part of the women.

OBJETIVO: Avaliar o efeito da utilização de unidades de terapia intensiva (UTIs) na mortalidade materna (MM) entre mulheres com morbidade materna grave (MMG). MATERIAIS E MéTODOS: Foi realizada uma análise secundária de um estudo transversal de vigilância de morbidade materna grave em 27 centros de referência obstétrica no Brasil. O foco desta análise foi a associação entre a utilização de UTI e morte materna segundo características individuais e condições de gravidade. Análises múltiplas considerando as variáveis uso de UTI, idade, etnia, adequação do cuidado e índice de desenvolvimento humano foram realizadas para identificar os fatores associados à morte materna e near-miss materno. RESULTADOS: Dos 82.388 partos ocorridos durante o período de estudo, 9.555 (11,6%) mulheres apresentaram MMG, e a razão de MM foi de 170,4/100 mil nascidos vivos. Neste grupo, 8.135 (85,1%) pacientes foram atendidas em instituições com disponibilidade de leitos de UTI, mas apenas 2.059 (25,3%) foram de fato admitidas em leitos de UTI. Na análise de regressão multivariada, quando se considerou a gravidade do caso pelo maternal severity score (pontuação de severidade materna, MMS, na sigla em inglês), houve uma grande redução da força de associação entre utilização de UTI e morte materna, além da inadequação do cuidado e não disponibilidade de UTI na instituição. Na avaliação considerando apenas os casos de maior gravidade (desfecho materno grave, DMG), observou-se o mesmo padrão de associação entre UTI e MM. Nos modelos utilizados, apenas a inadequação do cuidado e o MSS apresentam associação significativa com a MM. CONCLUSãO: O presente estudo aponta que as principais variáveis associadas à morte materna são a gravidade e a adequação do manejo do caso, mais frequentes nas internações em UTI. A utilização dos leitos de UTI sem a estratificação da gravidade da paciente pode não trazer benefícios esperados para uma parte das mulheres.

Use of intensive care unit in women with severe maternal morbidity and maternal death: results from a national multicenter study / Uso de unidade de terapia intensiva em mulheres com morbidade materna grave: resultados de um estudo nacional multicêntrico

Abstract Objective To assess the use of the intensive care unit (ICU) and its effect on maternal mortality (MM) among women with severe maternal morbidity (SMM). Materials and Methods A secondary analysis of a cross-sectional study on surveillance of SMM in 27 Brazilian obstetric referral centers. The analysis focused on the association between ICU use and maternal death according to individual characteristics and disease severity. Two multivariate regressions considering use of the ICU, age, ethnicity, adequacy of care and the human development index were performed to identify the factors associated to maternal death and maternal near-miss. Results Out of 82,388 deliveries during the period, there were 9,555 (11.6%) women with SMM, and the MM ratio was of 170.4/100 thousand live births. In total, 8,135 (85.1%) patients were managed in facilities in which ICUs were available; however, only 2,059 (25.3%) had been admitted to the ICU. On the multivariate analysis, when the severity of the maternal disease was measured by the maternal severity score (MMS), the strength of the association between the use of the ICU and maternal death was greatly reduced, along with inadequate care and non-availability of the ICU at the facility. On the assessment of only the more critical cases (SMO, severe maternal outcome), the same pattern of association between ICU and MM was observed. In the models used, only inadequate care and MSS were significantly associated with MM. Conclusion The current study indicates that the main variables associated with maternal death are the severity and adequacy of the case management, which is more frequent in ICU admissions. The use of the ICU without the stratification of the patients by severity may not produce the expected benefits for part of the women.

Resumo Objetivo Avaliar o efeito da utilização de unidades de terapia intensiva (UTIs) na mortalidade materna (MM) entre mulheres com morbidade materna grave (MMG). Materiais e Métodos Foi realizada uma análise secundária de um estudo transversal de vigilância de morbidade materna grave em 27 centros de referência obstétrica no Brasil. O foco desta análise foi a associação entre a utilização de UTI e morte materna segundo características individuais e condições de gravidade. Análises múltiplas considerando as variáveis uso de UTI, idade, etnia, adequação do cuidado e índice de desenvolvimento humano foram realizadas para identificar os fatores associados à morte materna e near-miss materno. Resultados Dos 82.388 partos ocorridos durante o período de estudo, 9.555 (11,6%) mulheres apresentaram MMG, e a razão de MM foi de 170,4/100 mil nascidos vivos. Neste grupo, 8.135 (85,1%) pacientes foram atendidas em instituições com disponibilidade de leitos de UTI, mas apenas 2.059 (25,3%) foram de fato admitidas em leitos de UTI. Na análise de regressão multivariada, quando se considerou a gravidade do caso pelo maternal severity score (pontuação de severidade materna, MMS, na sigla em inglês), houve uma grande redução da força de associação entre utilização de UTI e morte materna, além da inadequação do cuidado e não disponibilidade de UTI na instituição. Na avaliação considerando apenas os casos de maior gravidade (desfecho materno grave, DMG), observou-se o mesmo padrão de associação entre UTI e MM. Nos modelos utilizados, apenas a inadequação do cuidado e o MSS apresentam associação significativa com a MM. Conclusão O presente estudo aponta que as principais variáveis associadas à morte materna são a gravidade e a adequação do manejo do caso, mais frequentes nas internações em UTI. A utilização dos leitos de UTI sem a estratificação da gravidade da paciente pode não trazer benefícios esperados para uma parte das mulheres.

Fetal anencephaly with umbilical cord attached to cerebrovasculosa area: autopsy report / Anencefalia fetal com cordão umbilical aderido à área cerebrovasculosa: relato da autópsia

ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a 16-year-old pregnant woman. Ultrasound evaluation at 17 weeks revealed a single fetus without cranial vault and brain parenchyma, compatible with anencephaly. Postnatal evaluation, through an autopsy, was consistent with this diagnosis. Moreover, it was observed that the umbilical cord was attached to the area cerebrovasculosa and there was the presence of a fibrous tissue, suggestive of an amniotic band. We have found only one similar case described in the literature.

RESUMEN Reportamos el caso poco usual de un feto anencéfalo nacido con el cordón umbilical adherido al area cerebrovasculosa. La embarazada tenía 16 años de edad. La ecografía de la semana 17 de gestación mostró un feto sin bóveda craneal y parénquima cerebral, compatible con anencefalia. La evaluación posnatal, mediante autopsia, estaba de acuerdo a ese diagnóstico. Además, se ha notado que el cordón umbilical estaba adherido al area cerebrovasculosa, puesto que había presencia de tejido fibroso, sugestivo de banda amniótica. Encontramos solo un caso descrito en la literatura.

RESUMO Relatamos um caso incomum de feto com anencefalia nascido com o cordão umbilical aderido à área cerebrovasculosa. A gestante tinha 16 anos de idade. A avaliação pela ultrassonografia, na 17ª semana de gestação, revelou feto sem calota craniana e parênquima cerebral, compatível com anencefalia. A avaliação pós-natal, através da autópsia, foi concordante com esse diagnóstico. Ademais, notou-se que o cordão umbilical estava aderido à área cerebrovasculosa, visto que havia a presença de tecido fibroso, sugestivo de uma banda amniótica. Encontramos apenas um caso semelhante descrito na literatura.

In-Depth Proteome Analysis of Ricinus communis Pollens.

Pollen grains are tiny structures vital for sexual reproduction and consequently seed and fruit production in angiosperms, and a source of many allergenic components responsible for deleterious implications for health worldwide. Current pollen research is mainly focused on unraveling the molecular mechanisms underlying the pollen germination and tube formation passing from the quiescent stage. In this context, an in-depth proteome analysis of the pollens from Ricinus communis at three different stages-that is, mature, hydrated, and in vitro germinated-is performed. This analysis results in the identification of 1950 proteins, including 1773, 1313, and 858, from mature, hydrated, and germinated pollens, respectively. Based on label-free quantification, 164 proteins are found to be significantly differentially abundant from mature to hydrated pollens, 40 proteins from hydrated to germinated, and 57 proteins from mature to germinated pollens, respectively. Most of the differentially abundant proteins are related to protein, carbohydrate, and energy metabolism and signaling. Besides other functional classes, a reasonable number of the proteins are predicted to be allergenic proteins, previously undiscovered. This is the first in-deep proteome analysis of the R. communis pollens and, to the best of our knowledge, one of the most complete proteome dataset identified from the pollens of any plant species, thus providing a reference proteome for researchers interested in pollen biology.

Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix / Descrição dos aspectos clínicos e da microscopia da haste capilar de um portador de monilétrix familiar

ABSTRACT Monilethrix is a genetic condition that affects the hair shaft. We describe a family with this disease, focusing on its clinical aspects and microscopic hair characteristics. The patient was a 10-year-old female with history of hypotrichosis. In addition to diffuse alopecia, there was brittle hair, with ruptures in the hair shaft at different levels. The hair had a nodular appearance at naked eye. Other family members had the same symptoms, what indicates an autosomal dominant pattern of inheritance. Microscopic analysis revealed capillary fibers with areas of elliptical nodular appearance interspersed with regions of dystrophic constriction.

RESUMO A monilétrix é uma condição genética que acomete a haste capilar. Descrevemos uma família com essa doença, enfocando seus aspectos clínicos e as características microscópicas do cabelo. A paciente era do sexo feminino, 10 anos de idade, e apresentava história de hipotricose. Além da alopecia difusa, notava-se um cabelo quebradiço, com rupturas na haste capilar em diferentes níveis. Os cabelos possuíam um aspecto nodular a olho nu. Outros membros da família apresentavam os mesmos sintomas, o que indica um padrão de herança autossômica dominante. A análise microscópica revelou fibras capilares com áreas de aparência nodular elíptica, intercaladas por regiões de constrição distrófica.

Putting the Mess in Order: Aspergillus welwitschiae (and Not A. niger) Is the Etiological Agent of Sisal Bole Rot Disease in Brazil.

Approximately 75% of the worldwide production of hard natural fibers originates from sisal, an industrial crop from arid and semiarid tropical regions. Brazil is the world's largest producer of sisal fiber, accounting for more than 40% of the worldwide production, and sisal bole rot disease has been the main phytosanitary problem of this crop. All previous studies reporting Aspergillus niger as the causal agent of the disease were based on the morphological features of fungal isolates from infected plant tissues in pure cultures. Black aspergilli are one of the most complex and difficult groups to classify and identify. Therefore, we performed an integrative analysis of this disease based on the isolation of black aspergilli from the endospheres and soils in the root zones of symptomatic adult plants, in vivo pathogenicity tests, histopathology of symptomatic plants, and molecular phylogeny and worldwide genetic variability of the causal agent. All sisal isolates were pathogenic and unequivocally produced symptoms of bole rot disease in healthy plants. In all tree-based phylogenetic methods used, a monophyletic group formed by A. welwitschiae along with all sisal isolates was retrieved. Ten A. welwitschiae haplotypes have been identified in the world, and three occur in the largest sisal-producing area. Most of the isolates are from a unique haplotype, present in only the sisal-producing region. A. welwitschiae destroyed parenchymatic and vascular cylinder cells and induced the necrosis of internal stem tissues. Therefore, sisal bole disease is probably the consequence of a saprotrophic fungus that opportunistically invades sisal plants and behaves as a typical necrotrophic pathogen.

Common Features Between the Proteomes of Floral and Extrafloral Nectar From the Castor Plant (Ricinus Communis) and the Proteomes of Exudates From Carnivorous Plants.

Label-free quantitative proteome analysis of extrafloral (EFN) and floral nectar (FN) from castor (Ricinus communis) plants resulted in the identification of 72 and 37 proteins, respectively. Thirty proteins were differentially accumulated between EFN and FN, and 24 of these were more abundant in the EFN. In addition to proteins involved in maintaining the nectar pathogen free such as chitinases and glucan 1,3-beta-glucosidase, both proteomes share an array of peptidases, lipases, carbohydrases, and nucleases. A total of 39 of the identified proteins, comprising different classes of hydrolases, were found to have biochemical matching partners in the exudates of at least five genera of carnivorous plants, indicating the EFN and FN possess a potential to digest biological material from microbial, animal or plant origin equivalent to the exudates of carnivorous plants.

Autopsy findings of a child with left atrial isomerism associated with pulmonary agenesis / Achados de autópsia de uma criança com isomerismo atrial esquerdo associado à agenesia pulmonar

ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed right renal agenesis, single umbilical artery and polyhydramnios. Echocardiography revealed a complex heart defect with LAI. The child died minutes after birth. Autopsy confirmed the prenatal findings and revealed the presence of unilateral PA, complex vascular abnormalities and polysplenia. Despite its rarity, health professionals should be aware for the possibility of such an association.

RESUMO O isomerismo é um defeito de lateralidade raro. Nosso objetivo foi descrever os achados da autópsia de uma criança com isomerismo atrial esquerdo (IAE) e agenesia pulmonar (AP), uma associação ainda não descrita na literatura. A ultrassonografia fetal revelou agenesia renal direita, artéria umbilical única e polidrâmnio; a ecocardiografia apresentou defeito cardíaco complexo com IAE. A criança morreu minutos após o nascimento. A autópsia confirmou os achados pré-natais e revelou a presença de agenesia pulmonar unilateral, anormalidades vasculares complexas e polisplenia. Apesar de sua raridade, profissionais da saúde devem estar cientes da possibilidade dessa associação.

The role of cytogenetics and molecular biology in the diagnosis, treatment and monitoring of patients with chronic myeloid leukemia / O papel da citogenética e da biologia molecular no diagnóstico, no tratamento e no monitoramento de pacientes com leucemia mieloide crônica

ABSTRACT Chronic myeloid leukemia (CML) is the most common myeloproliferative disorder among chronic neoplasms. The history of this disease joins with the development of cytogenetic analysis techniques in human. CML was the first cancer to be associated with a recurrent chromosomal alteration, a reciprocal translocation between the long arms of chromosomes 9 and 22 - Philadelphia chromosome. This work is an updated review on CML, which highlights the importance of cytogenetics analysis in the continuous monitoring and therapeutic orientation of this disease. The search for scientific articles was carried out in the PubMed electronic database, using the descriptors "leukemia", "chronic myeloid leukemia", "treatment", "diagnosis", "karyotype" and "cytogenetics". Specialized books and websites were also included. Detailed cytogenetic and molecular monitoring can assist in choosing the most effective drug for each patient, optimizing the treatment. Cytogenetics plays a key role in the detection of chromosomal abnormalities associated with malignancies, as well as the characterization of new alterations that allow more research and increase knowledge about the genetic aspects of these diseases. The development of new drugs, through the understanding of the molecular mechanisms involved, will allow a possible improvement in the survival of these patients.

RESUMO Leucemia mieloide crônica (LMC) é a desordem mieloproliferativa mais comum entre as neoplasias crônicas. A história dessa doença se alia ao desenvolvimento de técnicas de análise citogenética em humanos. Foi o primeiro câncer a ser associado a uma alteração cromossômica recorrente, uma translocação recíproca entre os braços longos do cromossomo 9 e 22 - o cromossomo Philadelphia. Este trabalho é uma revisão atualizada sobre LMC, o qual destaca a importância da análise citogenética no monitoramento contínuo e na orientação terapêutica dessa doença. A pesquisa de artigos científicos foi realizada no banco de dados PubMed, usando os descritores "leucemia", "leucemia mieloide crônica", "tratamento", "diagnóstico", "cariótipo" e "citogenética". Livros e sites especializados também foram incluídos. O monitoramento citogenético e molecular detalhado pode auxiliar na escolha do medicamento mais efetivo para cada paciente, otimizando seu tratamento. A citogenética desempenha um papel fundamental na detecção de anormalidades cromossômicas associadas a malignidades, bem como na caracterização de novas alterações que permitem mais pesquisas e ampliação do conhecimento sobre os aspectos genéticos dessas doenças. O desenvolvimento de novas drogas, através da compreensão dos mecanismos moleculares envolvidos, permitirá uma possível melhora na sobrevida desses pacientes.

Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence? / Aumento dos níveis de quitotriosidase em um paciente com síndrome de Alagille: associação ou coincidência?

ABSTRACT We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that could justify the relationship between AS and ChT. He was a male patient with cholestatic jaundice, facial dysmorphia and congenital heart disease who presented a brief septicemia. He underwent liver biopsy and analyses for inborn errors of metabolism that respectively showed ductopenia and increased levels of ChT. This increase could be potentially explained by inflammatory and infectious processes, or even by AS itself.

RESUMO Descrevemos o caso de um paciente do sexo masculino com síndrome de Alagille (SA), o qual manifestou aumento do nível da enzima quitotriosidase (ChT). Avaliamos os fatores que pudessem justificar a relação entre AS e ChT. O paciente apresentou icterícia colestática, tinha dismorfias faciais, cardiopatia congênita e manifestou um breve quadro de septicemia. Foi submetido à biópsia de fígado e análises para erros inatos do metabolismo que mostraram, respectivamente, ductopenia e aumento dos níveis de ChT. Esse aumento poderia ser potencialmente explicado por processos infecciosos e inflamatórios, ou mesmo pela própria SA.

Evaluation of the fetal urine sample through vesicocentesis: an approach to diagnostic and therapeutic application / Avaliação da urina fetal por meio da vesicocentese: uma abordagem com aplicação diagnóstica e terapêutica

ABSTRACT We report the case of a fetus with mega-bladder and suspected lower urinary tract obstruction (LUTO). The 20-week pregnancy ultrasound scan showed absence of amniotic fluid (anhydramnios), enlarged bladder, and narrowing of the urethra in the proximal region. At 21 weeks of gestational age, vesicocentesis was performed for relief of obstruction and analysis of biochemical of the fetal urine and karyotyping was carried out, which presented normal result (46,XY). This technique is indicated in cases of severe oligohydramnios or difficulty of placental access and has diagnostic and therapeutic function.

RESUMO Relatamos o caso de um feto com megabexiga e suspeita de obstrução do trato urinário inferior (LUTO). O exame ultrassonográfico realizado com 20 semanas de gestação mostrou líquido amniótico ausente (adramnia), bexiga com aumento de volume e estreitamento na região da uretra proximal. Na 21ª semana de gestação, foi realizada a vesicocentese para alívio e análise bioquímica e cariotípica da urina fetal, que apresentou resultado normal (46,XY). Essa técnica é indicada em casos de grave oligodramnia ou dificuldade de acesso placentário e tem função diagnóstica e terapêutica.