If two or more renewable energy sources are available in the same region, their complementary can be advantageous in a hybrid power system. Three indices are defined in this work for assessing the complementarity of s...If two or more renewable energy sources are available in the same region, their complementary can be advantageous in a hybrid power system. Three indices are defined in this work for assessing the complementarity of solar and wind resources for energy production. Based on existing data of solar radiation and wind speed, these complementarity indices were calculated and represented in the form of maps for the state of Rio Grande do Sul, in southern Brazil. The results found suggest that there are some areas of the state where the use of hybrid wind-solar power systems could be more effective than single photovoltaic or wind systems.展开更多
This work studies the complementarity between hydro, wind and solar photovoltaic energy in the Brazilian state of Rio Grande do Sul. Brazil is a country highly dependent on hydro energy;however, the existent plants ar...This work studies the complementarity between hydro, wind and solar photovoltaic energy in the Brazilian state of Rio Grande do Sul. Brazil is a country highly dependent on hydro energy;however, the existent plants are not being able to cover the energy demand in recent years. In this context, the state of Rio Grande do Sul becomes important because of its potential for wind and solar photovoltaic energy, having complementarity between water, wind and solar photovoltaic schemes when hydroelectric reservoirs are at their lowest levels. This study aims to survey the complementarity of various parts of Rio Grande do Sul by proposing mathematical dimensionless ratios, focusing on intra-annual period to carry out a mapping of the entire state. It also analyses the ability to provide power supply throughout the year, through the stabilization of the energy supply, which depends on an adequate scale for photovoltaic, wind power and hydroelectric harnessing. According to the results obtained, the regions with the best complementarity indexes for deployment of a hybrid system in relation to water and wind power were the Metropolitan Region of Porto Alegre and the Southeast region, and the same regions also presented the best results for the complementarity between hydro and solar photovoltaic. Regarding wind and solar photovoltaic energy, the state’s northeast region presented the best results. Finally, the Northeast region of the state also presented the best results for the three energies together.展开更多
BACKGROUND Prolonged donor hepatectomy time may be implicated in early and late complications of liver transplantation.AIM To evaluate the impact of donor hepatectomy time on outcomes of liver transplant recipients,ma...BACKGROUND Prolonged donor hepatectomy time may be implicated in early and late complications of liver transplantation.AIM To evaluate the impact of donor hepatectomy time on outcomes of liver transplant recipients,mainly early allograft dysfunction.METHODS This multicenter retrospective study included brain-dead donors and adult liver graft recipients.Donor-recipient matching was obtained through a crossover list.Clinical and laboratory data were recorded for both donors and recipients.Donor hepatectomy,cold ischemia,and warm ischemia times were recorded.Primary outcome was early allograft dysfunction.Secondary outcomes included need for retransplantation,length of intensive care unit and hospital stay,and patient and graft survival at 12 months.RESULTS From January 2019 to December 2021,a total of 243 patients underwent a liver transplant from a brain-dead donor.Of these,57(25%)developed early allograft dysfunction.The median donor hepatectomy time was 29(23–40)min.Patients with early allograft dysfunction had a median hepatectomy time of 25(22–38)min,whereas those without it had a median time of 30(24–40)min(P=0.126).CONCLUSION Donor hepatectomy time was not associated with early allograft dysfunction,graft survival,or patient survival following liver transplantation.展开更多
Macro and microvascular disease are the main cause of morbi-mortality in type 1 diabetes(T1DM).Although there is a clear association between endothelial dysfunction and atherosclerosis in type 2 diabetes,a cause-effec...Macro and microvascular disease are the main cause of morbi-mortality in type 1 diabetes(T1DM).Although there is a clear association between endothelial dysfunction and atherosclerosis in type 2 diabetes,a cause-effect relationship is less clear in T1 DM.Although endothelial dysfunction(ED) precedes atherosclerosis,it is not clear weather,in recent onset T1 DM,it may progress to clinical macrovascular disease.Moreover,endothelial dysfunction may either be reversed spontaneously or in response to intensive glycemic control,long-term exercise training and use of statins.Acute,long-term and post-prandial hyperglycemia as well as duration of diabetes and microalbuminuria are all conditions associated with ED in T1 DM.The pathogenesis of endothelial dysfunction is closely related to oxidative-stress.NAD(P)H oxidase over activity induces excessive superoxide production inside the mitochondrial oxidative chain of endothelial cells,thus reducing nitric oxide bioavailability and resulting in peroxynitrite formation,a potent oxidant agent.Moreover,oxidative stress also uncouples endothelial nitric oxide synthase,which becomes dysfunctional,inducing formation of superoxide.Other important mechanisms are the activation of both the polyol and protein kinase C pathways as well as the presence of advanced glycation end-products.Future studies are needed to evaluate the potential clinical applicability of endothelial dysfunction as a marker for early vascular complications in T1 DM.展开更多
The Dof(DNA-binding with one finger)protein family spans a group of plant transcription factors involved in the regulation of several functions,such as plant responses to stress,hormones and light,phytochrome signalin...The Dof(DNA-binding with one finger)protein family spans a group of plant transcription factors involved in the regulation of several functions,such as plant responses to stress,hormones and light,phytochrome signaling and seed germination.Here we describe the Dof-like gene family in grapevine(Vitis vinifera L.),which consists of 25 genes coding for Dof.An extensive in silico characterization of the VviDofL gene family was performed.Additionally,the expression of the entire gene family was assessed in 54 grapevine tissues and organs using an integrated approach with microarray(cv Corvina)and real-time PCR(cv Pinot Noir)analyses.The phylogenetic analysis comparing grapevine sequences with those of Arabidopsis,tomato,poplar and already described Dof genes in other species allowed us to identify several duplicated genes.The diversification of grapevine DofL genes during evolution likely resulted in a broader range of biological roles.Furthermore,distinct expression patterns were identified between samples analyzed,corroborating such hypothesis.Our expression results indicate that several VviDofL genes perform their functional roles mainly during flower,berry and seed development,highlighting their importance for grapevine growth and production.The identification of similar expression profiles between both approaches strongly suggests that these genes have important regulatory roles that are evolutionally conserved between grapevine cvs Corvina and Pinot Noir.展开更多
Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and adolescents. Most cases in clinical practice are caused by similar etiologies. In infants, cirrhosis is most often caused by...Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and adolescents. Most cases in clinical practice are caused by similar etiologies. In infants, cirrhosis is most often caused by biliary atresia and genetic-metabolic diseases, while in older children, it tends to result from autoimmune hepatitis,Wilson's disease, alpha-1-antitrypsin deficiency and primary sclerosing cholangitis. The symptoms of cirrhosis in children and adolescents are similar to those of adults. However, in pediatric patients, the first sign of cirrhosis is often poor weight gain. The complications of pediatric cirrhosis are similar to those observed in adult patients, and include gastrointestinal bleeding caused by gastroesophageal varices, ascites and spontaneous bacterial peritonitis. In pediatric patients, special attention should be paid to the nutritional alterations caused by cirrhosis, since children and adolescents have higher nutritional requirements for growth and development. Children and adolescents with chronic cholestasis are at risk for several nutritional deficiencies. Malnutrition can have severe consequences for both pre- and post-liver transplant patients. The treatment of cirrhosis-induced portal hypertension in children and adolescents is mostly based on methods developed for adults. The present article will review the diagnostic and differential diagnostic aspects of end-stage liver disease in children, as well as the major treatment options for this condition.展开更多
BACKGROUND Melatonin(MLT)is a potent antioxidant molecule that is shown to have a beneficial effect in various pathological situations,due to its action against free radicals.AIM To evaluate the effect of MLT on carbo...BACKGROUND Melatonin(MLT)is a potent antioxidant molecule that is shown to have a beneficial effect in various pathological situations,due to its action against free radicals.AIM To evaluate the effect of MLT on carbon tetrachloride(CCl_(4))induced liver injury in rats in terms of oxidative stress,reticular stress,and cell damage.METHODS Twenty male Wistar rats(230-250 g)were divided into four groups:Control rats,rats treated with MLT alone,rats treated with CCl_(4)alone,and rats treated with CCl_(4)plus MLT.CCl_(4)was administered as follows:Ten doses every 5 d,ten every 4 d,and seven every 3 d.MLT was administered intraperitoneally at a dose of 20 mg/kg from the 10th wk to the end of the experiment(16th wk).RESULTS MLT was able to reduce the release of liver enzymes in the bloodstream and to decrease oxidative stress in CCl_(4)treated rats by decreasing the level of thiobarbituric acid reactive substances and increasing superoxide dismutase activity,with a lower reduction in serum zinc levels,guaranteeing a reduction in liver damage;additionally,it increased the expression of nuclear factor(erythroid-derived 2)-like 2 and decreased the expression of Kelch-like ECH-associated protein 1.MLT also decreased the expression of the proteins associated with endoplasmic reticulum stress,i.e.,glucose-regulated protein 78 and activating transcription factor 6,as well as of heat shock factor 1 and heat shock protein 70.CONCLUSION MLT has a hepatoprotective effect in an experimental model of CCl_(4)-induced liver injury,since it reduces oxidative stress,restores zinc levels,and modulates endoplasmic reticulum stress.展开更多
The ontogenetic characterization of the leaf galls induced in the internervural region and in the second and third order veins of A. spruceanum Müell Arg. (Apocynaceae) aims to evaluate the distinct levels of cel...The ontogenetic characterization of the leaf galls induced in the internervural region and in the second and third order veins of A. spruceanum Müell Arg. (Apocynaceae) aims to evaluate the distinct levels of cell reaction during the process of gall formation, and the relation between external gall morphology and the oviposition sites. The ground system had the most remarkable alterations, namely, the non differentiation of palisade parenchyma in both leaf sides, the hyperplasia of the spongy parenchyma and the neoformation of fibersclereids, a cell type not observed in non galled leaves. Changes of the feeding sites inside the larval chamber reveal distinct levels of cell competence to respond to the insects stimuli and explain the variations in the shape of the larval chamber.展开更多
Although the involvement of gender in epigenetic machinery in peripheral tissues during the neonatal period has been suggested, the gender-related epigenetic profile of brain areas during the adolescent period is rare...Although the involvement of gender in epigenetic machinery in peripheral tissues during the neonatal period has been suggested, the gender-related epigenetic profile of brain areas during the adolescent period is rarely exploited. Furthermore, the influence of time of day on hippocampal acetylation marks has been demonstrated in young adult and aged rats; however, there are no studies reporting epigenetic changes in the adolescent period. Therefore, this study aimed to investigate the effects of gender on hippocampal DNA methyltransferase 1 content and histone deacetylase(HDAC) activity of adolescent rats at different time points, specifically early morning and afternoon. Both epigenetic markers increased significantly in the hippocampi of female rats compared to the male group, an indicator of reduced transcriptional activity. In addition, HDAC activity during the early morning was higher compared to afternoon groups in both male and female rats, while DNA methyltransferase 1 content was not altered by the time of day. Our findings demonstrate that hippocampal DNA methylation and histone acetylation status can be influenced by gender during the adolescent period, while the time of the day impacts HDAC activity.展开更多
Energetic complementarity has been studied in recent years and can be an important tool for managers to decide on the design and operation of hybrid systems based on renewable energy resources. Complementarity is an a...Energetic complementarity has been studied in recent years and can be an important tool for managers to decide on the design and operation of hybrid systems based on renewable energy resources. Complementarity is an ability presented by two or more energy resources to complement each other over time. Complementarity can be verified in one place or at different places. This second case can be termed as spatial complementarity and is more complex than the complementarity in the same place, requiring a specific approach for its quantification This paper discusses concepts related to energetic complementarity and presents the basis for a method to evaluate energetic time-complementarity across space, applying the concepts presented to the northern coast of the state of Rio Grande do Sul, the southernmost state of Brazil.展开更多
In 2011 neutrinos from CERN in Geneva-CH were announced to reach to the OPERA Lab in Gran Sasso-IT 60 ns earlier than light. In reality, the velocity of the neutrinos was compared, not with the measured one-way veloci...In 2011 neutrinos from CERN in Geneva-CH were announced to reach to the OPERA Lab in Gran Sasso-IT 60 ns earlier than light. In reality, the velocity of the neutrinos was compared, not with the measured one-way velocity of light, however with the presumed velocity of light c. As this conclusion breaks the light postulate, the data were withdrawn. In fact, to compare the neutrino velocity with the presumed velocity of light violates a fundamental precept of scientific methodologies. Such a comparison could make a sense only if the velocity of both neutrinos and light had been measured along the same path in vacuum. Actually the absence of the solar gravitational slowing of the GPS clocks, absence of light anisotropy with respect to earth etc. demonstrates that the Higgs Quantum Fluid Space (HQFS), giving mass to the elementary particles and thus ruling their inertial motion, is moving round the sun according to a Keplerian velocity field, consistently with the planetary motions. It is also moving round earth consistently with the orbital motion of the Moon. The Keplerian velocity fields are the quintessence of the gravitational fields. In the earth’s field, the velocity of the HQFS achieves 7.91 km/sec on surface and drags both the neutrinos and light toward the East. In the South-East direction, from CERN to OPERA Lab, making ∼58 degrees with the Meridians, this drag adds 6.7 km/sec to the conventional light velocity c, making neutrinos from CERN (and light) to reach the OPERA Lab ~60 ns earlier than presumed by the current theories.展开更多
The Higgs theory introduces the idea that space is filled up throughout by a quantum fluid medium, giving mass and mechanical properties to the elementary particles by the Higgs mechanism. This Higgs Quantum Space (HQ...The Higgs theory introduces the idea that space is filled up throughout by a quantum fluid medium, giving mass and mechanical properties to the elementary particles by the Higgs mechanism. This Higgs Quantum Space (HQS) thus governs the inertial motion of matter-energy and is locally their ultimate reference for rest and for motions. On the other hand, mo-tion with respect to the local HQS and not relative motion is the origin of all the effects of velocity on matter, on light and on clocks. In previous works, the author has shown that the HQS, moving round the astronomical bodies according to a Keplerian velocity field (GM/r)1/2 e∅, consistent with the local astronomical motions, accurately creates the observed gravitational dynamics and gives rise to all the observed effects of the gravitational fields on light and on clocks. The absence of the solar gravitational slowing on the GPS clocks and the absence of light anisotropy with respect to earth are both the signature of this HQS dynamics. In their orbital motion round the galactic center, the stars carry with them their Keplerian velocity fields. The present work shows that, due to the effects of this orbital velocity on the symmetry of the polarized star Keplerian velocity fields, the collective velocity field, created by them, does not fall with distance as the Keplerian profile (r-1/2 ). Depending on the distribution of the matter density, the velocity of the HQS and the stars can even increase with r. The non-Keplerian rotation of the galaxies thus is an intrinsic feature of the HQS dynamics gravitational mechanism, created without the need of dark matter.展开更多
The search for alternatives to traditional sources of electric energy opens the way for a new market in the world, and for Brazil in particular. Still in its first steps, but with immense potential, the generation of ...The search for alternatives to traditional sources of electric energy opens the way for a new market in the world, and for Brazil in particular. Still in its first steps, but with immense potential, the generation of energy from solar irradiation and hydroelectric plants in hybrid systems is an important alternative. On the other hand, single source power systems, when designed to meet a particular demand without fail, lead to low market acceptance due to the availability of resources and low efficiency in performance that rewards high initial investment costs. One solution to balance and optimize energy supply is the use of more than one energy resource when sources can be complementary. Among several possible combinations reported in several studies, the hybrid photovoltaic hydroelectric system is considered to be an optimal and interesting combination. In this context, the present article makes a technical and economic pre-feasibility analysis of a hydroelectric photovoltaic hybrid system, operating photovoltaic panels on floating structures on the water surface to allow the use of the Laranjeiras dam. The study was conducted based on simulations with HOMER. The solution indicated as optimal was the installation of a hybrid energy system, implementing a hydroelectric power plant at the base of the dam, with 1497 kW of installed capacity, operating simultaneously with a set of photovoltaic modules, on the water surface of the dam, with 180 kW of installed capacity, and a power limit for the purchase and sale to the grid equal to 400 kW, to supply the demand of consumer loads up to 40 MWh per day. This combination would result in an initial cost of US$3984.885 per kW and an energy cost of US$0.026 per kWh.展开更多
Hypoxia is a condition found commonly in several disorders,such as ischemia,asthma,anemia and neonatal hypoxia.Individuals subjected suddenly to high altitude or extreme exercise are also challenged to low oxygen(O_2)...Hypoxia is a condition found commonly in several disorders,such as ischemia,asthma,anemia and neonatal hypoxia.Individuals subjected suddenly to high altitude or extreme exercise are also challenged to low oxygen(O_2)levels.Since the brain presents elevated basal O_2 consumption,this organ is readily affected by hypoxia.For this reason,cerebral hypoxia has展开更多
Background: Recently, late umbilical cord clamping is generally recommended, which decreases neonatal anemia;however, it may also increase neonatal jaundice and some other poor outcomes. Objectives: We here attempted ...Background: Recently, late umbilical cord clamping is generally recommended, which decreases neonatal anemia;however, it may also increase neonatal jaundice and some other poor outcomes. Objectives: We here attempted to determine whether late clamping actually increases the incidence of phototherapy for jaundice and other poor outcomes of the term “low-risk newborns”. Methods: With the approval of the Brazilian Registry of Clinical Trials (REBEC), a total of 357 low-risk newborns (singleton, uncomplicated pregnancy/delivery, in a Brazilian public institution) were randomized into two groups: group I (n = 114): cord clamping 1 minute (early clamping) or group II (n = 243): cord clamping between 1 - 3 minutes (late clamping). Statistics were used appropriately (i.e., measures of central tendency, dispersion for continuous variables, Shapiro-Wilk, Mann-Whitney test, or Chi-square test). Results: Phototherapy was performed in 5.3% in both groups. Also, there were no statistical differences in the occurrence of secondary outcomes, such as sepsis, neonatal ICU admission, and transient tachypnea of the newborns: i.e., 0.9%, 15.8%, and 3.5%, respectively for group I versus 1.2%, 15.6%, and 5.8%, respectively for group II. Conclusion: Late umbilical cord clamping does not increase the need for phototherapy in low-risk neonates. This result corroborates the current recommendation of late cord clamping, whenever appropriate.展开更多
<strong>OBJECTIVE</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-...<strong>OBJECTIVE</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><strong>:</strong></span></span></span></span><span><span><span><b><span style="font-family:""> </span></b></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">To compare maternal preoperative and postoperative hemoglobin variation after cord clamping. </span><b><span style="font-family:Verdana;">METHODS: </span></b><span style="font-family:Verdana;">Randomized clinical trial performed in Porto Alegre, RS from January to December 2012. It was included 356 women with habitual risk gestations. In the immediate cord clamping group</span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;"> the umbilical cord section was realized between 0 and 60 s (group 1) while in the delayed cord clamping group it was realized >60 s (group 2). </span><b><span style="font-family:Verdana;">RESULTS:</span></b><span style="font-family:Verdana;"> The mean (±standard deviation [SD]) preoperative hemoglobin was 12.13 ± 1.06 in the group 1 and 12.13 ± 1.11 in the group 2. The mean (±SD) postoperative day 2 hemoglobin level was 10.19 ± 1.46 in the group 1 and 10.24 ± 1.42 in the group 2. </span><b><span style="font-family:Verdana;">CONCLUSIONS: </span></b><span style="font-family:Verdana;">Delayed umbilical cord clamping resulted in a similar maternal hemoglobin level reduction at postoperative day 2.</span></span></span></span></span>展开更多
<strong>Introduction:</strong><span><span><span style="font-family:""><span style="font-family:Verdana;"> Prematurity is a public health problem in Brazil, ...<strong>Introduction:</strong><span><span><span style="font-family:""><span style="font-family:Verdana;"> Prematurity is a public health problem in Brazil, with 12% of deliveries occurring before 37 weeks of gestation. The measurement of the cervix in the second trimester is already established as a method of screening for prematurity and some studies point out advantages to start this screening in the first trimester. </span><b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:Verdana;"> To define the correlation between the length of the endocervix by transvaginal ultrasound in the first trimester (11 to 14 weeks) with spontaneous early deliveries. </span><b><span style="font-family:Verdana;">Method:</span></b><span style="font-family:Verdana;"> A prospective and observational study realized in a suplementar and private ultrasound clinic and hospital of Porto Alegre, Brazil between 2019-2020. Ultrasound screening of cervix was performed in singleton pregnancies in first and second trimester of pregnancy and correlated with age of delivery. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> 142 pregnant women were studied, 80% were in the first pregnancy. The average age was 33.8 years. The rate of prematurity was 18% before 37 weeks and 4% before 34 weeks. The average of cervix measured in the first and second trimesters in deliveries before 34 weeks was 32.7 mm and 29.3 mm, respectively. In term deliveries the median cervical length was 38.8 mm and 37.8 mm, respectively. When analyzing the measurements of the cervix in the second trimester, the cervix was smaller (p = 0.008) among deliveries below 34 weeks (29</span></span></span></span><span><span><span style="font-family:""> </span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;">mm) than deliveries after 37 weeks. No statistically related differences were found between preterm birth and first trimester cervix measurements. </span><b><span style="font-family:Verdana;">Conclusions</span></b><span style="font-family:Verdana;">: In this study, we did not observe a statistically significant relationship between first trimester cervix measurement and prematurity. More studies are needed to evaluate this finding. However, the measurement of the cervix in the second trimester is different from that found in the literature. This suggest</span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">s</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> a possible new cut-off point that increases the sensitivity of transvaginal ultrasound as a method of preventing prematurity.</span></span></span>展开更多
The knowledge of the epidemiology of parasitic infections in stray and domestic animals, especially of its incidence and prevalence, is fundamental to adopting effective prophylactic measures. Stray dogs play an impor...The knowledge of the epidemiology of parasitic infections in stray and domestic animals, especially of its incidence and prevalence, is fundamental to adopting effective prophylactic measures. Stray dogs play an important role in environmental contamination favoring the transmission cycle of zoonotic agents. Among the parasitic infections that affect humans, Giardia duodenalis is the most common intestinal protozoa and was designated as a re-emerging infectious disease. This study aimed to determine the prevalence of G. duodenalis in dogs siezed by the Center for Control of Zoonoses (CCZ) of the city of Lages, Santa Catarina, Brazil using two diagnostic techniques. In 357 stool samples analysed, the prevalence of G. duodenalis cysts was 5.3% (19/357) and 4.8% (17/357) detected by floatation and sedimentation techniques, respecttively. No correspondence between gender and age was found among the methods used for analyzing the infected dogs in this study. Our data suggested that two diagnostic techniques should be used in a complementary way to ensure that false negatives are not neglected.展开更多
Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil....Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.展开更多
Regenerative approaches towards neuronal loss following traumatic brain or spinal cord injury have long been considered a dogma in neuroscience and remain a cutting-edge area of research.This is reflected in a large d...Regenerative approaches towards neuronal loss following traumatic brain or spinal cord injury have long been considered a dogma in neuroscience and remain a cutting-edge area of research.This is reflected in a large disparity between the number of studies investigating primary and secondary injury as therapeutic to rgets in spinal co rd and traumatic brain injuries.Significant advances in biotechnology may have the potential to reshape the current state-of-the-art and bring focus to primary injury neurotrauma research.Recent studies using neural-glial factor/antigen 2(NG2)cells indicate that they may differentiate into neurons even in the developed brain.As these cells show great potential to play a regenerative role,studies have been conducted to test various manipulations in neurotrauma models aimed at eliciting a neurogenic response from them.In the present study,we systematically reviewed the experimental protocols and findings described in the scientific literature,which were peer-reviewed original research articles(1)describing preclinical experimental studies,(2)investigating NG2 cells,(3)associated with neurogenesis and neurotrauma,and(4)in vitro and/or in vivo,available in PubMed/MEDLINE,Web of Science or SCOPUS,from 1998 to 2022.Here,we have reviewed a total of 1504 papers,and summarized findings that ultimately suggest that NG2 cells possess an inducible neurogenic potential in animal models and in vitro.We also discriminate findings of NG2 neurogenesis promoted by different pharmacological and genetic approaches over functional and biochemical outcomes of traumatic brain injury and spinal co rd injury models,and provide mounting evidence for the potential benefits of manipulated NG2 cell ex vivo transplantation in primary injury treatment.These findings indicate the feasibility of NG2 cell neurogenesis strategies and add new players in the development of therapeutic alternatives for neurotrauma.展开更多
文摘If two or more renewable energy sources are available in the same region, their complementary can be advantageous in a hybrid power system. Three indices are defined in this work for assessing the complementarity of solar and wind resources for energy production. Based on existing data of solar radiation and wind speed, these complementarity indices were calculated and represented in the form of maps for the state of Rio Grande do Sul, in southern Brazil. The results found suggest that there are some areas of the state where the use of hybrid wind-solar power systems could be more effective than single photovoltaic or wind systems.
文摘This work studies the complementarity between hydro, wind and solar photovoltaic energy in the Brazilian state of Rio Grande do Sul. Brazil is a country highly dependent on hydro energy;however, the existent plants are not being able to cover the energy demand in recent years. In this context, the state of Rio Grande do Sul becomes important because of its potential for wind and solar photovoltaic energy, having complementarity between water, wind and solar photovoltaic schemes when hydroelectric reservoirs are at their lowest levels. This study aims to survey the complementarity of various parts of Rio Grande do Sul by proposing mathematical dimensionless ratios, focusing on intra-annual period to carry out a mapping of the entire state. It also analyses the ability to provide power supply throughout the year, through the stabilization of the energy supply, which depends on an adequate scale for photovoltaic, wind power and hydroelectric harnessing. According to the results obtained, the regions with the best complementarity indexes for deployment of a hybrid system in relation to water and wind power were the Metropolitan Region of Porto Alegre and the Southeast region, and the same regions also presented the best results for the complementarity between hydro and solar photovoltaic. Regarding wind and solar photovoltaic energy, the state’s northeast region presented the best results. Finally, the Northeast region of the state also presented the best results for the three energies together.
文摘BACKGROUND Prolonged donor hepatectomy time may be implicated in early and late complications of liver transplantation.AIM To evaluate the impact of donor hepatectomy time on outcomes of liver transplant recipients,mainly early allograft dysfunction.METHODS This multicenter retrospective study included brain-dead donors and adult liver graft recipients.Donor-recipient matching was obtained through a crossover list.Clinical and laboratory data were recorded for both donors and recipients.Donor hepatectomy,cold ischemia,and warm ischemia times were recorded.Primary outcome was early allograft dysfunction.Secondary outcomes included need for retransplantation,length of intensive care unit and hospital stay,and patient and graft survival at 12 months.RESULTS From January 2019 to December 2021,a total of 243 patients underwent a liver transplant from a brain-dead donor.Of these,57(25%)developed early allograft dysfunction.The median donor hepatectomy time was 29(23–40)min.Patients with early allograft dysfunction had a median hepatectomy time of 25(22–38)min,whereas those without it had a median time of 30(24–40)min(P=0.126).CONCLUSION Donor hepatectomy time was not associated with early allograft dysfunction,graft survival,or patient survival following liver transplantation.
文摘Macro and microvascular disease are the main cause of morbi-mortality in type 1 diabetes(T1DM).Although there is a clear association between endothelial dysfunction and atherosclerosis in type 2 diabetes,a cause-effect relationship is less clear in T1 DM.Although endothelial dysfunction(ED) precedes atherosclerosis,it is not clear weather,in recent onset T1 DM,it may progress to clinical macrovascular disease.Moreover,endothelial dysfunction may either be reversed spontaneously or in response to intensive glycemic control,long-term exercise training and use of statins.Acute,long-term and post-prandial hyperglycemia as well as duration of diabetes and microalbuminuria are all conditions associated with ED in T1 DM.The pathogenesis of endothelial dysfunction is closely related to oxidative-stress.NAD(P)H oxidase over activity induces excessive superoxide production inside the mitochondrial oxidative chain of endothelial cells,thus reducing nitric oxide bioavailability and resulting in peroxynitrite formation,a potent oxidant agent.Moreover,oxidative stress also uncouples endothelial nitric oxide synthase,which becomes dysfunctional,inducing formation of superoxide.Other important mechanisms are the activation of both the polyol and protein kinase C pathways as well as the presence of advanced glycation end-products.Future studies are needed to evaluate the potential clinical applicability of endothelial dysfunction as a marker for early vascular complications in T1 DM.
基金This work was supported by‘Coordenação de Aperfeiçoamento de Pessoal de Nível Superior’(CAPES,Brazil),‘Conselho Nacional de Desenvolvimento Científico e Tecnológico(CNPq,Brazil,Proc.475440/2004-8,GP research fellowship 311361/2009-9),‘Fundação de AmparoàPesquisa do Estado do Rio Grande do Sul’(FAPERGS,Brazil,Proc.04/1184.6)and Embrapa(Brazil).
文摘The Dof(DNA-binding with one finger)protein family spans a group of plant transcription factors involved in the regulation of several functions,such as plant responses to stress,hormones and light,phytochrome signaling and seed germination.Here we describe the Dof-like gene family in grapevine(Vitis vinifera L.),which consists of 25 genes coding for Dof.An extensive in silico characterization of the VviDofL gene family was performed.Additionally,the expression of the entire gene family was assessed in 54 grapevine tissues and organs using an integrated approach with microarray(cv Corvina)and real-time PCR(cv Pinot Noir)analyses.The phylogenetic analysis comparing grapevine sequences with those of Arabidopsis,tomato,poplar and already described Dof genes in other species allowed us to identify several duplicated genes.The diversification of grapevine DofL genes during evolution likely resulted in a broader range of biological roles.Furthermore,distinct expression patterns were identified between samples analyzed,corroborating such hypothesis.Our expression results indicate that several VviDofL genes perform their functional roles mainly during flower,berry and seed development,highlighting their importance for grapevine growth and production.The identification of similar expression profiles between both approaches strongly suggests that these genes have important regulatory roles that are evolutionally conserved between grapevine cvs Corvina and Pinot Noir.
基金FIPE-HCPA(Research Incentive Fund-Hospital de Clinicas de Porto Alegre)
文摘Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and adolescents. Most cases in clinical practice are caused by similar etiologies. In infants, cirrhosis is most often caused by biliary atresia and genetic-metabolic diseases, while in older children, it tends to result from autoimmune hepatitis,Wilson's disease, alpha-1-antitrypsin deficiency and primary sclerosing cholangitis. The symptoms of cirrhosis in children and adolescents are similar to those of adults. However, in pediatric patients, the first sign of cirrhosis is often poor weight gain. The complications of pediatric cirrhosis are similar to those observed in adult patients, and include gastrointestinal bleeding caused by gastroesophageal varices, ascites and spontaneous bacterial peritonitis. In pediatric patients, special attention should be paid to the nutritional alterations caused by cirrhosis, since children and adolescents have higher nutritional requirements for growth and development. Children and adolescents with chronic cholestasis are at risk for several nutritional deficiencies. Malnutrition can have severe consequences for both pre- and post-liver transplant patients. The treatment of cirrhosis-induced portal hypertension in children and adolescents is mostly based on methods developed for adults. The present article will review the diagnostic and differential diagnostic aspects of end-stage liver disease in children, as well as the major treatment options for this condition.
基金Supported by the FIPE/Hospital de Clínicas of Porto Alegre
文摘BACKGROUND Melatonin(MLT)is a potent antioxidant molecule that is shown to have a beneficial effect in various pathological situations,due to its action against free radicals.AIM To evaluate the effect of MLT on carbon tetrachloride(CCl_(4))induced liver injury in rats in terms of oxidative stress,reticular stress,and cell damage.METHODS Twenty male Wistar rats(230-250 g)were divided into four groups:Control rats,rats treated with MLT alone,rats treated with CCl_(4)alone,and rats treated with CCl_(4)plus MLT.CCl_(4)was administered as follows:Ten doses every 5 d,ten every 4 d,and seven every 3 d.MLT was administered intraperitoneally at a dose of 20 mg/kg from the 10th wk to the end of the experiment(16th wk).RESULTS MLT was able to reduce the release of liver enzymes in the bloodstream and to decrease oxidative stress in CCl_(4)treated rats by decreasing the level of thiobarbituric acid reactive substances and increasing superoxide dismutase activity,with a lower reduction in serum zinc levels,guaranteeing a reduction in liver damage;additionally,it increased the expression of nuclear factor(erythroid-derived 2)-like 2 and decreased the expression of Kelch-like ECH-associated protein 1.MLT also decreased the expression of the proteins associated with endoplasmic reticulum stress,i.e.,glucose-regulated protein 78 and activating transcription factor 6,as well as of heat shock factor 1 and heat shock protein 70.CONCLUSION MLT has a hepatoprotective effect in an experimental model of CCl_(4)-induced liver injury,since it reduces oxidative stress,restores zinc levels,and modulates endoplasmic reticulum stress.
基金The authors would like to thank the undergraduate stu-dent Ariane Chagas de Castro of the Universidade Fe-deral de Minas Gerais(UFMG)for helping with the col-lections,CNPq and CAPES for financial support and scholarship.
文摘The ontogenetic characterization of the leaf galls induced in the internervural region and in the second and third order veins of A. spruceanum Müell Arg. (Apocynaceae) aims to evaluate the distinct levels of cell reaction during the process of gall formation, and the relation between external gall morphology and the oviposition sites. The ground system had the most remarkable alterations, namely, the non differentiation of palisade parenchyma in both leaf sides, the hyperplasia of the spongy parenchyma and the neoformation of fibersclereids, a cell type not observed in non galled leaves. Changes of the feeding sites inside the larval chamber reveal distinct levels of cell competence to respond to the insects stimuli and explain the variations in the shape of the larval chamber.
基金partially supported by grant 476634/2013-0 from Conselho Nacional de Desenvolvimento Científico e Tecnológico-CNPq/Brazil.CNPq fellowships(to IRS,VRE,and KB)Coordenacao de Aperfeicoamento de Pessoal de Nível Superior–CAPES fellowships(to LCM)Programa de Bolsas de Iniciacao Científica–UFRGS(to LRC)
文摘Although the involvement of gender in epigenetic machinery in peripheral tissues during the neonatal period has been suggested, the gender-related epigenetic profile of brain areas during the adolescent period is rarely exploited. Furthermore, the influence of time of day on hippocampal acetylation marks has been demonstrated in young adult and aged rats; however, there are no studies reporting epigenetic changes in the adolescent period. Therefore, this study aimed to investigate the effects of gender on hippocampal DNA methyltransferase 1 content and histone deacetylase(HDAC) activity of adolescent rats at different time points, specifically early morning and afternoon. Both epigenetic markers increased significantly in the hippocampi of female rats compared to the male group, an indicator of reduced transcriptional activity. In addition, HDAC activity during the early morning was higher compared to afternoon groups in both male and female rats, while DNA methyltransferase 1 content was not altered by the time of day. Our findings demonstrate that hippocampal DNA methylation and histone acetylation status can be influenced by gender during the adolescent period, while the time of the day impacts HDAC activity.
文摘Energetic complementarity has been studied in recent years and can be an important tool for managers to decide on the design and operation of hybrid systems based on renewable energy resources. Complementarity is an ability presented by two or more energy resources to complement each other over time. Complementarity can be verified in one place or at different places. This second case can be termed as spatial complementarity and is more complex than the complementarity in the same place, requiring a specific approach for its quantification This paper discusses concepts related to energetic complementarity and presents the basis for a method to evaluate energetic time-complementarity across space, applying the concepts presented to the northern coast of the state of Rio Grande do Sul, the southernmost state of Brazil.
文摘In 2011 neutrinos from CERN in Geneva-CH were announced to reach to the OPERA Lab in Gran Sasso-IT 60 ns earlier than light. In reality, the velocity of the neutrinos was compared, not with the measured one-way velocity of light, however with the presumed velocity of light c. As this conclusion breaks the light postulate, the data were withdrawn. In fact, to compare the neutrino velocity with the presumed velocity of light violates a fundamental precept of scientific methodologies. Such a comparison could make a sense only if the velocity of both neutrinos and light had been measured along the same path in vacuum. Actually the absence of the solar gravitational slowing of the GPS clocks, absence of light anisotropy with respect to earth etc. demonstrates that the Higgs Quantum Fluid Space (HQFS), giving mass to the elementary particles and thus ruling their inertial motion, is moving round the sun according to a Keplerian velocity field, consistently with the planetary motions. It is also moving round earth consistently with the orbital motion of the Moon. The Keplerian velocity fields are the quintessence of the gravitational fields. In the earth’s field, the velocity of the HQFS achieves 7.91 km/sec on surface and drags both the neutrinos and light toward the East. In the South-East direction, from CERN to OPERA Lab, making ∼58 degrees with the Meridians, this drag adds 6.7 km/sec to the conventional light velocity c, making neutrinos from CERN (and light) to reach the OPERA Lab ~60 ns earlier than presumed by the current theories.
文摘The Higgs theory introduces the idea that space is filled up throughout by a quantum fluid medium, giving mass and mechanical properties to the elementary particles by the Higgs mechanism. This Higgs Quantum Space (HQS) thus governs the inertial motion of matter-energy and is locally their ultimate reference for rest and for motions. On the other hand, mo-tion with respect to the local HQS and not relative motion is the origin of all the effects of velocity on matter, on light and on clocks. In previous works, the author has shown that the HQS, moving round the astronomical bodies according to a Keplerian velocity field (GM/r)1/2 e∅, consistent with the local astronomical motions, accurately creates the observed gravitational dynamics and gives rise to all the observed effects of the gravitational fields on light and on clocks. The absence of the solar gravitational slowing on the GPS clocks and the absence of light anisotropy with respect to earth are both the signature of this HQS dynamics. In their orbital motion round the galactic center, the stars carry with them their Keplerian velocity fields. The present work shows that, due to the effects of this orbital velocity on the symmetry of the polarized star Keplerian velocity fields, the collective velocity field, created by them, does not fall with distance as the Keplerian profile (r-1/2 ). Depending on the distribution of the matter density, the velocity of the HQS and the stars can even increase with r. The non-Keplerian rotation of the galaxies thus is an intrinsic feature of the HQS dynamics gravitational mechanism, created without the need of dark matter.
文摘The search for alternatives to traditional sources of electric energy opens the way for a new market in the world, and for Brazil in particular. Still in its first steps, but with immense potential, the generation of energy from solar irradiation and hydroelectric plants in hybrid systems is an important alternative. On the other hand, single source power systems, when designed to meet a particular demand without fail, lead to low market acceptance due to the availability of resources and low efficiency in performance that rewards high initial investment costs. One solution to balance and optimize energy supply is the use of more than one energy resource when sources can be complementary. Among several possible combinations reported in several studies, the hybrid photovoltaic hydroelectric system is considered to be an optimal and interesting combination. In this context, the present article makes a technical and economic pre-feasibility analysis of a hydroelectric photovoltaic hybrid system, operating photovoltaic panels on floating structures on the water surface to allow the use of the Laranjeiras dam. The study was conducted based on simulations with HOMER. The solution indicated as optimal was the installation of a hybrid energy system, implementing a hydroelectric power plant at the base of the dam, with 1497 kW of installed capacity, operating simultaneously with a set of photovoltaic modules, on the water surface of the dam, with 180 kW of installed capacity, and a power limit for the purchase and sale to the grid equal to 400 kW, to supply the demand of consumer loads up to 40 MWh per day. This combination would result in an initial cost of US$3984.885 per kW and an energy cost of US$0.026 per kWh.
基金Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)INCT-Excitoxicidade e Neuroprotecao and by FINEP research grant “Rede Instituto Brasileiro de Neurociencia (IBN-Net)” #01.06.0842-00
文摘Hypoxia is a condition found commonly in several disorders,such as ischemia,asthma,anemia and neonatal hypoxia.Individuals subjected suddenly to high altitude or extreme exercise are also challenged to low oxygen(O_2)levels.Since the brain presents elevated basal O_2 consumption,this organ is readily affected by hypoxia.For this reason,cerebral hypoxia has
文摘Background: Recently, late umbilical cord clamping is generally recommended, which decreases neonatal anemia;however, it may also increase neonatal jaundice and some other poor outcomes. Objectives: We here attempted to determine whether late clamping actually increases the incidence of phototherapy for jaundice and other poor outcomes of the term “low-risk newborns”. Methods: With the approval of the Brazilian Registry of Clinical Trials (REBEC), a total of 357 low-risk newborns (singleton, uncomplicated pregnancy/delivery, in a Brazilian public institution) were randomized into two groups: group I (n = 114): cord clamping 1 minute (early clamping) or group II (n = 243): cord clamping between 1 - 3 minutes (late clamping). Statistics were used appropriately (i.e., measures of central tendency, dispersion for continuous variables, Shapiro-Wilk, Mann-Whitney test, or Chi-square test). Results: Phototherapy was performed in 5.3% in both groups. Also, there were no statistical differences in the occurrence of secondary outcomes, such as sepsis, neonatal ICU admission, and transient tachypnea of the newborns: i.e., 0.9%, 15.8%, and 3.5%, respectively for group I versus 1.2%, 15.6%, and 5.8%, respectively for group II. Conclusion: Late umbilical cord clamping does not increase the need for phototherapy in low-risk neonates. This result corroborates the current recommendation of late cord clamping, whenever appropriate.
文摘<strong>OBJECTIVE</strong><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><strong>:</strong></span></span></span></span><span><span><span><b><span style="font-family:""> </span></b></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">To compare maternal preoperative and postoperative hemoglobin variation after cord clamping. </span><b><span style="font-family:Verdana;">METHODS: </span></b><span style="font-family:Verdana;">Randomized clinical trial performed in Porto Alegre, RS from January to December 2012. It was included 356 women with habitual risk gestations. In the immediate cord clamping group</span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">,</span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;"> the umbilical cord section was realized between 0 and 60 s (group 1) while in the delayed cord clamping group it was realized >60 s (group 2). </span><b><span style="font-family:Verdana;">RESULTS:</span></b><span style="font-family:Verdana;"> The mean (±standard deviation [SD]) preoperative hemoglobin was 12.13 ± 1.06 in the group 1 and 12.13 ± 1.11 in the group 2. The mean (±SD) postoperative day 2 hemoglobin level was 10.19 ± 1.46 in the group 1 and 10.24 ± 1.42 in the group 2. </span><b><span style="font-family:Verdana;">CONCLUSIONS: </span></b><span style="font-family:Verdana;">Delayed umbilical cord clamping resulted in a similar maternal hemoglobin level reduction at postoperative day 2.</span></span></span></span></span>
文摘<strong>Introduction:</strong><span><span><span style="font-family:""><span style="font-family:Verdana;"> Prematurity is a public health problem in Brazil, with 12% of deliveries occurring before 37 weeks of gestation. The measurement of the cervix in the second trimester is already established as a method of screening for prematurity and some studies point out advantages to start this screening in the first trimester. </span><b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:Verdana;"> To define the correlation between the length of the endocervix by transvaginal ultrasound in the first trimester (11 to 14 weeks) with spontaneous early deliveries. </span><b><span style="font-family:Verdana;">Method:</span></b><span style="font-family:Verdana;"> A prospective and observational study realized in a suplementar and private ultrasound clinic and hospital of Porto Alegre, Brazil between 2019-2020. Ultrasound screening of cervix was performed in singleton pregnancies in first and second trimester of pregnancy and correlated with age of delivery. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> 142 pregnant women were studied, 80% were in the first pregnancy. The average age was 33.8 years. The rate of prematurity was 18% before 37 weeks and 4% before 34 weeks. The average of cervix measured in the first and second trimesters in deliveries before 34 weeks was 32.7 mm and 29.3 mm, respectively. In term deliveries the median cervical length was 38.8 mm and 37.8 mm, respectively. When analyzing the measurements of the cervix in the second trimester, the cervix was smaller (p = 0.008) among deliveries below 34 weeks (29</span></span></span></span><span><span><span style="font-family:""> </span></span></span><span><span><span style="font-family:""><span style="font-family:Verdana;">mm) than deliveries after 37 weeks. No statistically related differences were found between preterm birth and first trimester cervix measurements. </span><b><span style="font-family:Verdana;">Conclusions</span></b><span style="font-family:Verdana;">: In this study, we did not observe a statistically significant relationship between first trimester cervix measurement and prematurity. More studies are needed to evaluate this finding. However, the measurement of the cervix in the second trimester is different from that found in the literature. This suggest</span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">s</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> a possible new cut-off point that increases the sensitivity of transvaginal ultrasound as a method of preventing prematurity.</span></span></span>
文摘The knowledge of the epidemiology of parasitic infections in stray and domestic animals, especially of its incidence and prevalence, is fundamental to adopting effective prophylactic measures. Stray dogs play an important role in environmental contamination favoring the transmission cycle of zoonotic agents. Among the parasitic infections that affect humans, Giardia duodenalis is the most common intestinal protozoa and was designated as a re-emerging infectious disease. This study aimed to determine the prevalence of G. duodenalis in dogs siezed by the Center for Control of Zoonoses (CCZ) of the city of Lages, Santa Catarina, Brazil using two diagnostic techniques. In 357 stool samples analysed, the prevalence of G. duodenalis cysts was 5.3% (19/357) and 4.8% (17/357) detected by floatation and sedimentation techniques, respecttively. No correspondence between gender and age was found among the methods used for analyzing the infected dogs in this study. Our data suggested that two diagnostic techniques should be used in a complementary way to ensure that false negatives are not neglected.
基金The financial support provided by FIPE-HCPA(grant number 2017-0249),CNPq,FAPERGSthe UFRGS Graduate Program in Genetics and Molecular Biology.FSLV was funded by of a CNPq grant(no.312960/2021-2).
文摘Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.
基金supported by funding from FAPERGS under Grant No.1010267FAPERGS/PPSUS+8 种基金No.17/2551-0001FAPERGS/PRONEXNo.16/2551-0000499-4FAPERGS/CAPES under Grant No.19/25510000717-5Conselho Nacional de Desenvolvimento Científico e Tecnologico under Grants Nos.4011645/2012-6 and#5465346/2014-6Irish Research Council Government of Ireland Postdoctoral FellowshipNo.GOIPD/2022/792Irish Research Council Enterprise Postdoctoral FellowshipNo.EPSPD/2022/112。
文摘Regenerative approaches towards neuronal loss following traumatic brain or spinal cord injury have long been considered a dogma in neuroscience and remain a cutting-edge area of research.This is reflected in a large disparity between the number of studies investigating primary and secondary injury as therapeutic to rgets in spinal co rd and traumatic brain injuries.Significant advances in biotechnology may have the potential to reshape the current state-of-the-art and bring focus to primary injury neurotrauma research.Recent studies using neural-glial factor/antigen 2(NG2)cells indicate that they may differentiate into neurons even in the developed brain.As these cells show great potential to play a regenerative role,studies have been conducted to test various manipulations in neurotrauma models aimed at eliciting a neurogenic response from them.In the present study,we systematically reviewed the experimental protocols and findings described in the scientific literature,which were peer-reviewed original research articles(1)describing preclinical experimental studies,(2)investigating NG2 cells,(3)associated with neurogenesis and neurotrauma,and(4)in vitro and/or in vivo,available in PubMed/MEDLINE,Web of Science or SCOPUS,from 1998 to 2022.Here,we have reviewed a total of 1504 papers,and summarized findings that ultimately suggest that NG2 cells possess an inducible neurogenic potential in animal models and in vitro.We also discriminate findings of NG2 neurogenesis promoted by different pharmacological and genetic approaches over functional and biochemical outcomes of traumatic brain injury and spinal co rd injury models,and provide mounting evidence for the potential benefits of manipulated NG2 cell ex vivo transplantation in primary injury treatment.These findings indicate the feasibility of NG2 cell neurogenesis strategies and add new players in the development of therapeutic alternatives for neurotrauma.
