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BACKGROUND: The literature contains scarce data on inequalities in growth trajectories among children born to mothers of diverse ethnoracial background in the first 5 years of life. OBJECTIVE: We aimed to investigate child growth according to maternal ethnoracial group using a nationwide Brazilian database. METHODS: A population-based retrospective cohort study employed linked data from the CIDACS Birth Cohort and the Brazilian Food and Nutrition Surveillance System (SISVAN). Children born at term, aged 5 years or younger who presented two or more measurements of length/height (cm) and weight (kg) were followed up between 2008 and 2017. Prevalence of stunting, underweight, wasting, and thinness were estimated. Nonlinear mixed effect models were used to estimate childhood growth trajectories, among different maternal ethnoracial groups (White, Asian descent, Black, Pardo, and Indigenous), using the raw measures of weight (kg) and height (cm) and the length/height-for-age (L/HAZ) and weight-for-age z-scores (WAZ). The analyses were also adjusted for mother's age, educational level, and marital status. RESULTS: A total of 4,090,271 children were included in the study. Children of Indigenous mothers exhibited higher rates of stunting (26.74%) and underweight (5.90%). Wasting and thinness were more prevalent among children of Pardo, Asian, Black, and Indigenous mothers than those of White mothers. Regarding children's weight (kg) and length/height (cm), those of Indigenous, Pardo, Black, and Asian descent mothers were on average shorter and weighted less than White ones. Regarding WAZ and L/HAZ growth trajectories, a sharp decline in average z-scores was evidenced in the first weeks of life, followed by a period of recovery. Over time, z-scores for most of the subgroups analyzed trended below zero. Children of mother in greater social vulnerability showed less favorable growth. CONCLUSION: We observed racial disparities in nutritional status and childhood growth trajectories, with children of Indigenous mothers presenting less favorable outcomes compared to their White counterparts. The strengthening of policies aimed at protecting Indigenous children should be urgently undertaken to address systematic ethnoracial health inequalities.
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Estado Nutricional , Magreza , Criança , Feminino , Humanos , Lactente , Magreza/epidemiologia , Brasil/epidemiologia , Estudos Retrospectivos , Transtornos do Crescimento/epidemiologiaRESUMO
This study describes Lipogenys hyalinumvelum, a new species of the genus Lipogenys found on the Portuguese coast on the northeastern Atlantic during a crustacean survey. Information on the classification history and known distribution of the genus Lipogenys is provided. Dichotomous keys to the genera of Notacanthidae and the species of Lipogenys, based on morphology, are provided. The specimens were analysed using both morphological and molecular methods, including DNA sequencing of the COI and 16S genes. The distinct genetic characteristics support the recognition of the present specimens as a new species. The hyaline color of the flap at the posterior edge of the operculum is a characteristic that differentiates L. hyalinumvelum from Lipogenys gillii and provides the etymology of the species name.
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Enguias , Animais , Oceano Atlântico , Enguias/genética , Enguias/anatomia & histologia , Enguias/classificação , Filogenia , Portugal , Análise de Sequência de DNA , Masculino , Feminino , Complexo IV da Cadeia de Transporte de Elétrons/genéticaRESUMO
BACKGROUND: Gallstone disease (GD) is no longer an exclusive condition of adulthood, and its prevalence is increasing in pediatric age. The management and the extent of the etiological investigation of GD in children and adolescents remains controversial. This study aimed to analyze the difficulties in the work-up and management of pediatric GD patients. METHODS: A retrospective study performed in a single tertiary center enrolled sixty-five patients with GD followed from January 2014 to June 2021. Patients were categorized conveniently according to their age at diagnosis: Group A (<10years, n=35) and Group B (≥10years, n=30). We analyzed demographic, clinical and laboratory data, ultrasonographic findings at presentation, therapeutics and complications. RESULTS: Symptoms were more frequent in patients >10years old (p=0.001). Cholecystectomy was performed in 31 patients (47.7%). A multivariate regression logistic model identified the age >10years (OR=6.440, p=0.005) and underlying entities (OR=6.823, p=0.017) as independent variables to perform surgery. Spontaneous resolution of GD was more common in children <2years old. A multivariate regression logistic model showed a trend for those >10years old to develop more complications. Two out of 18 patients were diagnosed with ABCB4 gene mutations in heterozygosity. CONCLUSIONS: Decision-making on cholecystectomy remains challenging in asymptomatic patients. Identifying predictive factors for the development of complications has proven difficult. However, we found a trend toward the development of complications in individuals older than 10years.
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Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF-I vasculopathy) are a well-recognized manifestation of NF-1. Although the pathogenesis is not well-known, NF-1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9-year-old boy with clinically and genetically confirmed NF-1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri-hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF-1. We speculate that NF-1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.
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Hipertensão Portal , Neurofibromatose 1 , Doenças Vasculares , Trombose Venosa , Masculino , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Hipertensão Portal/complicações , Veia Porta , Trombose Venosa/genética , Trombose Venosa/complicações , Doenças Vasculares/patologiaRESUMO
AIM: The objective of the work was to assess the effect of biostimulation with selected plant growth-promoting bacteria on growth and metabolite profile of Salicornia europaea. METHODS AND RESULTS: Salicornia europaea seeds were inoculated with different combinations of plant growth-promoting bacteria Brevibacterium casei EB3, Pseudomonas oryzihabitans RL18, and Bacillus aryabhattai SP20. Plants germinated from inoculated seeds were grown either in laboratory conditions or in a saline crop field. Fresh and dry weight were determined at the end of the experiment, for biomass quantification. The microbiological quality of fresh shoots for human consumption as salad greens was assessed, and the persistence of the inoculated strains in the plant rhizosphere was confirmed by next-generation sequencing (Illumina) of the 16S rDNA gene. The primary metabolite profile of biostimulated plants was characterized by GC-TOF-MS.In laboratory conditions, inoculation with the two strains Br. casei EB3 and Ps. oryzihabitans RL18 caused the most significant increase in biomass production (fresh and dry weight), and caused a shift in the central metabolic pathways of inoculated plants toward amino acid biosynthesis. In the field experiment, no significant biostimulation effect was detected with any of the tested inoculants. Seed inoculation had no significant effect on the microbiological quality of the edible parts. The persistence of inoculants was confirmed in both experiments. CONCLUSIONS: Manipulation of the plant microbiome can trigger primary metabolic reconfiguration and modulate the plant metabolism while promoting plant growth.
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Bactérias , Chenopodiaceae , Humanos , Desenvolvimento Vegetal , Sementes , Produtos Agrícolas , Chenopodiaceae/metabolismo , Chenopodiaceae/microbiologia , Raízes de Plantas/microbiologia , Rizosfera , Microbiologia do SoloRESUMO
AIMS: We aim at understanding the effect of domestication on the endophytic microbiome and metabolome of Salicornia europaea and collecting evidence on the potential role of microbial populations and metabolites in the adaptation of plants to different ecological contexts (wild vs crops). METHODS AND RESULTS: Samples were collected from a natural salt marsh (wild) and an intensive crop field (crop). High-throughput sequencing of the 16S rRNA gene, gas chromatography-mass spectrometry (GC-MS) and ultra-performance liquid chromatography-mass spectrometry (UPLC-MS) were used to analyze the endophytic bacterial communities and the metabolite profiles of S. europaea roots, respectively. The elemental analysis of the plant shoots was performed by Inductively Coupled Plasma-Mass Spectroscopy (ICP-MS).Overall, significant differences were found between the microbiome of wild and cultivated plants. The later showed a higher relative abundance of the genera Erythrobacter, Rhodomicrobium, and Ilumatobacter than wild plants. The microbiome of wild plants was enriched in Marinobacter, Marixanthomonas, and Thalassospira. The metabolite profile of crop plants revealed higher amounts of saturated and non-saturated fatty acids and acylglycerols. In contrast, wild plants contained comparatively more carbohydrates and most macroelements (i.e. Na, K, Mg, and Ca). CONCLUSIONS: There is a strong correlation between plant metabolites and the endosphere microbiome of S. europaea. In wild populations, plants were enriched in carbohydrates and the associated bacterial community was enriched in genes related to primary metabolic pathways such as nitrogen metabolism and carbon fixation. The endosphere microbiome of crop plants was predicted to have higher gene counts related to pathogenesis. Crop plants also exhibited higher amounts of azelaic acid, an indicator of exposure to phytopathogens.
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Chenopodiaceae , Domesticação , Cromatografia Líquida , RNA Ribossômico 16S/genética , Espectrometria de Massas em Tandem , MetabolomaRESUMO
Children with elevated liver enzymes are occasionally discovered through laboratory work-up from different clinical scenarios. Although the majority will have transient and/or benign conditions, a subgroup will have underlying liver disorders. The differential diagnosis is broad and therefore, a systematic approach is of utmost importance. In this article, we reviewed the most recent and relevant literature to provide a comprehensive overview of the main disease processes that cause hypertransaminasemia in children. Ultimately, we propose a practical stepwise approach to guide primary care physicians in the evaluation of abnormal liver enzymes in asymptomatic children. The first step is to obtain a complete history along with a thorough physical examination to exclude red flags, which should dictate urgent consultation with a paediatric gastroenterologist or hepatologist. Conclusion: Hypertransaminasemia is a challenging scenario in the primary care setting. The aetiology can be broad, ranging from hepatic and extrahepatic to transient versus chronic liver disease. Timely referral to a specialised centre is of paramount importance for conducting targeted research and to not miss the chance of identifying a progressive, but still asymptomatic, treatable liver disease. What is Known: ⢠Elevated liver enzyme is a challenging scenario in the primary care setting. ⢠There are few studies guiding the evaluation of asymptomatic hypertransaminasemia in the paediatric population and a standardised approach is lacking. What is New: ⢠We propose a practical stepwise approach to guide primary care physicians in the evaluation of abnormal liver enzymes.
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Hepatopatias , Humanos , Criança , Hepatopatias/diagnóstico , Exame Físico , Diagnóstico Diferencial , Encaminhamento e Consulta , Doenças Assintomáticas , Atenção Primária à SaúdeRESUMO
Anorexia nervosa (AN) and restrained eating behaviour (REB) are characterised by reduced food intake to achieve body weight loss. This scope review aimed to describe the existing evidence on the association between AN, restrictive eating behaviour and food consumption. Studies with children and adolescents of both sexes of all races and ethnicities were included. Experimental and observational studies, systematic reviews, meta-analysis, case reports or series, conference abstracts, dissertations and theses were also included. The search was conducted in ten electronic databases and grey literature without language restriction on 14 November 2020. Twenty-four studies met the inclusion criteria. Most studies included girls and identified lower intake of energy content, fat and certain micronutrients. There was also a higher intake of caffeine, fibre, vegetables, legumes and fruits and a lower intake of low-quality snack, fast food, sweets and foods with high carbohydrate and fat contents. The need to improve the quality of the diet among study participants was also identified. Thus, it is recommended that the evaluation of food consumption be careful to develop effective prevention strategies for the development of AN/REB and minimise nutritional deficiencies in these individuals.
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Anorexia Nervosa , Adolescente , Criança , Feminino , Humanos , Masculino , Dieta , Ingestão de Alimentos , Comportamento Alimentar , Frutas , VerdurasRESUMO
Epigenetic regulators are proteins involved in controlling gene expression. Information about the epigenetic regulators within the Fagaceae, a relevant family of trees and shrubs of the northern hemisphere ecosystems, is scarce. With the intent to characterize these proteins in Fagaceae, we searched for orthologs of DNA methyltransferases (DNMTs) and demethylases (DDMEs) and Histone modifiers involved in acetylation (HATs), deacetylation (HDACs), methylation (HMTs), and demethylation (HDMTs) in Fagus, Quercus, and Castanea genera. Blast searches were performed in the available genomes, and freely available RNA-seq data were used to de novo assemble transcriptomes. We identified homologs of seven DNMTs, three DDMEs, six HATs, 11 HDACs, 32 HMTs, and 21 HDMTs proteins. Protein analysis showed that most of them have the putative characteristic domains found in these protein families, which suggests their conserved function. Additionally, to elucidate the evolutionary history of these genes within Fagaceae, paralogs were identified, and phylogenetic analyses were performed with DNA and histone modifiers. We detected duplication events in all species analyzed with higher frequency in Quercus and Castanea and discuss the evidence of transposable elements adjacent to paralogs and their involvement in gene duplication. The knowledge gathered from this work is a steppingstone to upcoming studies concerning epigenetic regulation in this economically important family of Fagaceae.
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Histonas , Quercus , Filogenia , Histonas/genética , Histonas/metabolismo , Duplicação Gênica , Epigênese Genética , Elementos de DNA Transponíveis , Ecossistema , Histona Desacetilases/genética , Histona Desacetilases/metabolismo , Quercus/metabolismo , Metiltransferases/genéticaRESUMO
INTRODUCTION: Obesity has numerous etiologies and includes biological factors. Studies have demonstrated that the human adenovirus subtype 36 (Adv36) is an adipogenic agent and causes metabolic alterations. Study results on the prevalence of Adv36 and clinical effects in humans vary substantially. This was a systematic review to summarize the studies on the prevalence of Adv36 infection and its association with human obesity. METHODS: A systematic literature review was conducted using the preferred reporting items for systematic reviews and meta-analysis (PRISMA). Observational or experimental studies found in the Medline, Embase, LILACS, Science Direct and SciELO databases that presented results on the prevalence of Adv36 in humans were included. RESULTS: Thirty-seven studies were screened. A total of 10,300 adults aged 18-70 years and 4585 children and adolescents aged 3-18 years were assessed. The average prevalence of Adv36 among adults was 22.9%, ranging from 5.5% to 49.8%. Among children and adolescents, the average prevalence of Adv36 was 28.9%, ranging from 7.5% to 73.9%. There was a positive statistical relationship between Adv36 and weight gain, obesity, or metabolic changes in 31 studies. However, in four studies there was no association with obesity, and in one, no association was described. One of the studies showed an inverse correlation, i.e., Adv36 was a protective factor against obesity. CONCLUSION: Strong evidence suggested a positive association between viral infection and obesity. However, due to the multi-causality of obesity and heterogeneity of studies, diagnostic tests should be standardized and easily accessible by the population to estimate the overall prevalence of Adv36 infection and its association with obesity.
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Infecções por Adenoviridae , Adenoviridae/genética , Obesidade , Infecções por Adenoviridae/complicações , Infecções por Adenoviridae/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Obesidade/virologia , Prevalência , Adulto JovemRESUMO
Despite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis still relays on the expertise of medical teams. Our aim was to develop models of etiological diagnosis and unfavourable prognosis which may support a rationale diagnostic approach. We retrospectively analysed 154 patients born between January 1985 and October 2019. The cohort was divided into two main groups: (A) transient cholestasis and (B) other diagnosis (with subgroups) and also in two groups of outcomes: (I) unfavourable and (II) favourable. Multivariate logistic regression analysis identified the lower gestational age as the only variable independently associated with an increased risk of transient cholestasis and signs and/or symptoms of sepsis with infectious or metabolic diseases. Gamma-glutamyl transferase serum levels > 300 IU/L had a positive predictive value for both diagnosis of biliary atresia and for alpha-1-antitrypsin deficiency (A1ATD) and for unfavourable prognosis. A model of diagnosis for A1ATD (n = 34) showed an area under the ROC curve = 0.843 [confidence interval (CI): 0.773-0.912].Conclusion: This study identified some predictors of diagnosis and prognosis which helped to build a diagnostic decision algorithm. The unusually large subgroup of patients with A1ATD in this cohort emphasizes its predictive diagnostic model. What Is Known ⢠The etiological diagnosis of neonatal cholestasis (NC) requires a step-by-step guided approach, and diagnostic models have been developed only for biliary atresia. ⢠Current algorithms neither address the epidemiology changes nor the application of the new molecular diagnostic tools. What Is New ⢠This study provides diagnostic predictive models for patients with A1ATD, metabolic/infectious diseases, and transient cholestasis, and two models of unfavourable prognosis for NC. ⢠A diagnostic decision algorithm is proposed based on this study, authors expertise and the literature.
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Atresia Biliar , Colestase , Algoritmos , Atresia Biliar/diagnóstico , Atresia Biliar/epidemiologia , Atresia Biliar/etiologia , Colestase/diagnóstico , Colestase/etiologia , Estudos de Coortes , Humanos , Lactente , Recém-Nascido , Estudos RetrospectivosRESUMO
A ten-year-old boy presented with a two-year history of iron deficiency anemia (IDA) and occasional vomiting. His medical history included cerebral palsy and chronic pulmonary disease under mechanical cough assistance and nocturnal non-invasive ventilation.
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Anemia Ferropriva , Hérnia Hiatal , Úlcera Gástrica , Criança , Hérnia Hiatal/complicações , Hérnia Hiatal/diagnóstico por imagem , Humanos , Masculino , ÚlceraRESUMO
The effects of the incorporation of the essential oils from Origanum vulgare L. (OVEO; 0.07⯵L/g) and Rosmarinus officinalis L. (ROEO; 2.65⯵L/g) in combination in Minas Frescal cheese on the counts of the probiotic Lactobacillus acidophilus LA-5 and Escherichia coli O157:H7 were evaluated during refrigerated storage (7⯱â¯0.5⯰C). The terpenes of OVEO and ROEO, survival of the probiotic strain during in vitro digestion, as well as the physicochemical and sensory aspects were also monitored in Minas Frescal cheese. All terpenes decreased in cheese when the storage time increased. The incorporation of OVEO and ROEO delayed the increase in L. acidophilus LA-5 counts in cheese, but did not affect its ability to survive in cheese under simulated gastrointestinal conditions. The decreases in counts of E. coli O157:H7 observed in the first 15 days of refrigerated storage were strongly correlated (râ¯≥â¯0.82) with the terpenes detected in cheese. Scores attributed for aroma, flavor, overall impression and purchase intention of cheese with OVEO and ROEO increased with the increase of the storage time. The incorporation of OVEO and ROEO in combination could be a strategy to control E. coli O157:H7 in probiotic Minas cheese during storage; however, the amounts of these substances should be cautiously selected considering possible negative sensory impacts in this product.
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Queijo/microbiologia , Escherichia coli O157/crescimento & desenvolvimento , Aditivos Alimentares/análise , Lactobacillus acidophilus/crescimento & desenvolvimento , Óleos Voláteis/análise , Origanum/química , Óleos de Plantas/análise , Rosmarinus/química , Queijo/análise , Escherichia coli O157/efeitos dos fármacos , Aditivos Alimentares/farmacologia , Humanos , Lactobacillus acidophilus/efeitos dos fármacos , Viabilidade Microbiana/efeitos dos fármacos , Óleos Voláteis/farmacologia , Óleos de Plantas/farmacologia , PaladarRESUMO
Spartina maritima and Puccinellia maritima are two fascinating but underexplored halophytic species, and herein, the chemical profile of their hexane extracts is described. Terpenoids and sterols were the most abundant chemical groups in both species. The second dominant class was alcohols and the third esters of fatty acids. The chemical lipophilic profile of both S. maritima and P. maritima is herein reported for the first time. Through the accomplished data, it is possible to conclude that these species are rich in essential compounds that can be relevant to endorse their use as nutraceuticals. Furthermore, through a principal component analysis, a clear differentiation between the taxa was achieved, which indicates that their response to salinity stress is different. That fact was confirmed by the pathway enrichment analysis, which showed that the induced changes in metabolic pathways vary in each species.
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Poaceae/fisiologia , Análise de Componente Principal , Salinidade , Tolerância ao Sal , Especificidade da EspécieRESUMO
Modifications of DNA and histones, including methylation and acetylation, are critical for the epigenetic regulation of gene expression during plant development, particularly during environmental adaptation processes. However, information on the enzymes catalyzing all these modifications in trees, such as Quercus suber L., is still not available. In this study, eight DNA methyltransferases (DNA Mtases) and three DNA demethylases (DDMEs) were identified in Q. suber. Histone modifiers involved in methylation (35), demethylation (26), acetylation (8), and deacetylation (22) were also identified in Q. suber. In silico analysis showed that some Q. suber DNA Mtases, DDMEs and histone modifiers have the typical domains found in the plant model Arabidopsis, which might suggest a conserved functional role. Additional phylogenetic analyses of the DNA and histone modifier proteins were performed using several plant species homologs, enabling the classification of the Q. suber proteins. A link between the expression levels of each gene in different Q. suber tissues (buds, flowers, acorns, embryos, cork, and roots) with the functions already known for their closest homologs in other species was also established. Therefore, the data generated here will be important for future studies exploring the role of epigenetic regulators in this economically important species.
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Epigênese Genética , Genoma de Planta , Quercus/genética , DNA (Citosina-5-)-Metiltransferases/química , DNA (Citosina-5-)-Metiltransferases/metabolismo , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Filogenia , Desenvolvimento Vegetal/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Domínios Proteicos , Quercus/enzimologia , Quercus/crescimento & desenvolvimentoRESUMO
OBJECTIVES: Autoimmune gastritis (AIG) is a chronic inflammatory condition of the gastric mucosa, mainly described in adults presenting with pernicious anemia. It results from antibody-mediated destruction of parietal cells, but the precise initiating event is unknown. The pathogenicity of Helicobacter pylori (H pylori) has been suggested but not established. This study aimed to better characterize AIG in pediatric patients and to address the possible role of H pylori infection. METHODS: Descriptive single-center study, retrospectively describing 20 patients with a diagnosis of AIG based on positivity for anti-parietal cell autoantibodies, in addition to analytical and/or histological findings of oxyntic mucosa atrophy. RESULTS: In the majority (18/20), AIG diagnosis was suggested during investigation of refractory iron-deficient anemia. One patient had dyspepsia and none of the others had gastrointestinal symptoms. Fifty-five percent (11/20) were H pylori positive, but there were no significant differences regarding mean hemoglobin values at presentation (10.6â±â2.5 vs 9.5â±â1.0âg/dL, Pâ>â0.05), analytical indicators of gastric atrophy (gastrin, 564.4â±â184 vs 721.2â±â220.6âpg/mL, Pâ>â0.05), or in the presence or the grade of oxyntic mucosa atrophy. CONCLUSIONS: Our findings highlight that AIG may have an age-dependent presentation; thus, we can consider a pediatric phenotype that in contrast to adults, is manifested by refractory iron-deficient anemia and associated with parietal cell autoantibody positivity, but not intrinsic factor autoantibodies. A correlation between H pylori and AIG was not evident in the current study and it is still unclear whether H pylori is a trigger for AIG.
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Doenças Autoimunes/microbiologia , Gastrite/microbiologia , Infecções por Helicobacter/imunologia , Helicobacter pylori/imunologia , Adolescente , Autoanticorpos/sangue , Doenças Autoimunes/imunologia , Criança , Pré-Escolar , Feminino , Gastrite/imunologia , Infecções por Helicobacter/epidemiologia , Humanos , Masculino , Células Parietais Gástricas/imunologia , Células Parietais Gástricas/microbiologia , Portugal/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders. The aim of this study was to identify clinical phenotypes of liver injury and contribute to find a diagnostic methodology that integrates new molecular diagnostic tools. We retrospectively analyzed the clinical and biochemical features of 16 patients with MLD and NC. Patients were categorized into three groups: A-NC with liver failure (N = 8): tyrosinemia type I (n = 2), classic galactosemia (n = 5), mitochondrial DNA depletion syndrome (n = 1); B-NC evolving with chronic liver disease (N = 5): argininemia (n = 2); mitochondrial cytopathy (n = 1); congenital disorders of glycosylation type Ia (n = 1); Zellweger syndrome (n = 1); and C-transient NC (N = 3): Niemann-Pick type C (n = 2), citrullinemia type II (n = 1).Conclusion: MLD presenting with NC can be categorized into three main clinical phenotypes of liver injury. We highlight transient NC as a clue for MLD that must be pursued. New molecular diagnostic tools can play a key role, but application criteria must be established to make them cost-effective. What is Known: ⢠Metabolic liver diseases are an important group of disorders presenting with neonatal cholestasis. ⢠The diagnostic approach is challenging and traditionally based on clinical and laboratory findings. Next-generation sequencing is a recent and rapidly developing tool in pediatric hepatology. What is New: ⢠We provide a liver-targeted characterization of metabolic liver diseases presenting with neonatal cholestasis, categorizing them into three clinical phenotypes that may narrow the diagnostic possibilities. ⢠A clinical decision-making algorithm is proposed, in which the NGS technology is integrated.
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Colestase/diagnóstico , Análise Mutacional de DNA/métodos , Falência Hepática Aguda/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Colestase/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido , Falência Hepática Aguda/complicações , Masculino , Erros Inatos do Metabolismo/classificação , Erros Inatos do Metabolismo/complicações , Estudos RetrospectivosRESUMO
Halophytic grasses have been recently targeted as possible sources of nutraceutical and medicinal compounds. Nonetheless, few studies have been conducted on the phytochemistry and biological activities of metabolites produced by these plants. Among these, Spartina maritima (Curtis) Fernald, Spartina patens (Aiton.) Muhl., and Puccinellia maritima (Hudson) Parl. are three halophytic grasses whose chemical composition and bioactivities are unknown. The present work broadens the knowledge on the polyphenolic and chlorophyll composition of these species identifying for the first time hydroxycinnamic acids and their derivatives, flavones, flavonols, lignans, as well as chlorophylls and xantophylls. The extracts were particularly rich in caffeic and ferulic acids as well as in trihydroxymethoxyflavone, apigenin and tricin derivatives. Interestingly, several of the identified compounds are relevant from a medicinal and nutraceutical point of view putting in evidence the potential of these species. Thus, the antioxidant, anti-acetylcholinesterase, antibacterial, and antifungal activities of the polyphenolic extracts were assessed as well as the photophysical properties of the chlorophyll-rich extracts. The results, herein presented for the first time, reinforce the nutritional and the medicinal potential of these halophytic grasses.
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Clorofila/química , Extratos Vegetais/química , Poaceae/química , Polifenóis/química , Plantas Tolerantes a Sal/química , Acetilcolinesterase/farmacologia , Antibacterianos/farmacologia , Antifúngicos/farmacologia , Antioxidantes/metabolismo , Clorofila/análise , Clorofila/isolamento & purificação , Inibidores da Colinesterase/farmacologia , Cromatografia Líquida de Alta Pressão , Ácidos Cumáricos/análise , Ácidos Cumáricos/química , Suplementos Nutricionais , Flavonas/análise , Flavonas/química , Flavonoides/análise , Flavonoides/química , Flavonóis/análise , Flavonóis/química , Sequestradores de Radicais Livres/metabolismo , Lignanas/análise , Lignanas/química , Plantas Medicinais/química , Poaceae/metabolismo , Espectrometria de Massas por Ionização por Electrospray , Xantofilas/análise , Xantofilas/químicaRESUMO
In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years (1990-2006), compared to those in the last decade (2007-2017). In addition we review the scientific contribution of SIAT in the field of human teratogenesis. Since 1990, SIAT received 10,533 calls. Use of medications were the main reason for concern, accounting for 74% of all questions, followed by other chemical exposures (occupational, cosmetics, environmental), and maternal infectious diseases. Among its main contributions to scientific knowledge was the collaboration for the identification of two new human teratogens: misoprostol in the 1990s and Zika virus in 2015/16. In conclusion, SIAT is still evolving, as is the Medical Genetics Service that hosts it. Through its 27 years of existence more than 300 undergraduate and graduate students have rotated at SIAT. Presently, SIAT is expanding the research to experimental teratogenesis and to investigation of molecular mechanisms of teratogens.
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Polycythemia vera (PV) is a myeloproliferative neoplasm characterized by overproduction of red blood cells. We have performed a comprehensive characterization of blood immune cells for expression of naïve and memory receptors as well as ß2m-associated and ß2m-free MHC class I heavy chains, also known as closed and open conformers, respectively, in PV patients and age-matched controls (CTR). We show that the peripheral CD3+CD8+ T cell pool in PV patients is clearly divided into two discrete populations, a more granular CD3+CD8high T cell population enriched in effector-memory CD45RA+ T cells (CD8+ TEMRA) when compared to CTR (P < 0.001), and a less granular CD3+CD8int T cell population that is completely absent in the CTR group (78 vs. 0%, P < 0.001) and is a mixture of naïve (CD8+ TN) and CD8+ TEMRA cells expressing intermediate levels of CD28, i.e., CD3+CD8intCD28int. While the percentage of CD3+CD8int TN cells correlated positively with the number of erythrocytes, the percentage of CD3+CD8int TEMRA correlated negatively with the number of platelets. Finally, we report that PV patients' lymphocytes and monocytes display lower levels of closed (W6/32+) MHC-I conformers at the cell surface while exhibiting increased amounts of open (HC-10+) MHC-I conformers. The implications of this distinctive immune signature are discussed.