To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender ...after diagnosis and etiological diagnosis.
Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded.
Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities.
This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.
Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico.
Revisão retrospectiva da idade por ocasião da primeira consulta e motivo da mesma, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado.
Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais.
Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.
The accurate specific identification of ticks is essential for the study, control and prevention of tick-borne diseases. Herein, we determined ribosomal nucleotide sequences of the second internal ...transcribed spacer (ITS2) of 15 Neotropical hard tick species of the genus Amblyomma Koch found in Brazil. Most of the studied ticks accidentally parasite humans and potentially act as vectors of zoonoses. Lengths of the ITS2 sequences ranged from 956 to 1,207 bp, whereas GC content varied from 62.4 to 66.9%. A matrix of ITS2 divergence was calculated with the ITS2 sequence data obtained showing divergence levels varying from 1.5 to 28.8%. The analysis indicated that this molecular marker can be useful for Amblyomma-specific identification. Phylogenetic inferences based on the ITS2 sequences were used to assess some issues in subgenus taxonomy.
Hybrid sol-gel planar optics devices for astronomy are produced for the first time. This material system can operate from the visible (0.5 microm) up to the edge of astronomical J-band (1.4 microm). ...The design, fabrication and characterization results of a coaxial three beam combiner are given as an example. Fringe contrasts above 94% are obtained with a source with spectral bandwidth of 50 nm. These results demonstrate that hybrid sol-gel technology can produce devices with high quality, opening the possibility of rapid prototyping of new designs and concepts for astronomical applications.
Summary Background Epidemiological studies suggest that raised plasma concentrations of total homocysteine might be a risk factor for major vascular events. Whether lowering total homocysteine with B ...vitamins prevents major vascular events in patients with previous stroke or transient ischaemic attack is unknown. We aimed to assess whether the addition of once-daily supplements of B vitamins to usual medical care would lower total homocysteine and reduce the combined incidence of non-fatal stroke, non-fatal myocardial infarction, and death attributable to vascular causes in patients with recent stroke or transient ischaemic attack of the brain or eye. Methods In this randomised, double-blind, parallel, placebo-controlled trial, we assigned patients with recent stroke or transient ischaemic attack (within the past 7 months) from 123 medical centres in 20 countries to receive one tablet daily of placebo or B vitamins (2 mg folic acid, 25 mg vitamin B6, and 0·5 mg vitamin B12). Patients were randomly allocated by means of a central 24-h telephone service or an interactive website, and allocation was by use of random permuted blocks stratified by hospital. Participants, clinicians, carers, and investigators who assessed outcomes were masked to the assigned intervention. The primary endpoint was the composite of stroke, myocardial infarction, or vascular death. All patients randomly allocated to a group were included in the analysis of the primary endpoint. This trial is registered with ClinicalTrials.gov , NCT00097669 , and Current Controlled Trials , ISRCTN74743444. Findings Between Nov 19, 1998, and Dec 31, 2008, 8164 patients were randomly assigned to receive B vitamins (n=4089) or placebo (n=4075). Patients were followed up for a median duration of 3·4 years (IQR 2·0–5·5). 616 (15%) patients assigned to B vitamins and 678 (17%) assigned to placebo reached the primary endpoint (risk ratio RR 0·91, 95% CI 0·82 to 1·00, p=0·05; absolute risk reduction 1·56%, −0·01 to 3·16). There were no unexpected serious adverse reactions and no significant differences in common adverse effects between the treatment groups. Interpretation Daily administration of folic acid, vitamin B6, and vitamin B12 to patients with recent stroke or transient ischaemic attack was safe but did not seem to be more effective than placebo in reducing the incidence of major vascular events. These results do not support the use of B vitamins to prevent recurrent stroke. The results of ongoing trials and an individual patient data meta-analysis will add statistical power and precision to present estimates of the effect of B vitamins. Funding Australia National Health and Medical Research Council, UK Medical Research Council, Singapore Biomedical Research Council, Singapore National Medical Research Council, Australia National Heart Foundation, Royal Perth Hospital Medical Research Foundation, and Health Department of Western Australia.
Knowledge of lactation curves in dairy cattle is essential for understanding the animal production in milk production systems. Genomic prediction of lactation curves represents the genetic pattern of ...milk production of the animals in the herd. In this context, we made genomic predictions of lactation curves through genome-wide selection (GWS) to characterize the genetic pattern of lactation traits in Girolando cattle based on parameters estimated by nonlinear mixed effects (NLME) models. Data of 1,822 milk control records from 226 Girolando animals genotyped for 37,673 single nucleotide polymorphisms were analyzed. Nine NLME models were compared to identify the equation with the best fit. The lactation traits estimated by the best model were submitted to GWS analysis, using the Bayesian LASSO method. Then, based on the genomic estimated breeding values (GEBVs) obtained, genomic predictions of lactation curves were constructed, and the genetic parameters were calculated. Wood's equation showed the best fit among the evaluated models. Heritabilities ranged from 0.09 to 0.29 for the seven lactation variables (initial production, rates of increase and decline, lactation peak, time to peak yield, persistence and total production). The correlations among GEBVs ranged from -0.85 to 0.98. The concordances between the best animals selected according to the selected traits were greater when the correlations between GEBVs for these traits were also high. Consequently, the methodology allowed us to identify the best nonlinear model and to construct the genetic lactation curves of a Girolando cattle population, as well as to assess the differences between animals and the association between lactation variables.
The cold shock response in bacteria involves the expression of low-molecular weight cold shock proteins (CSPs) containing a nucleic acid-binding cold shock domain (CSD), which are known to ...destabilize secondary structures on mRNAs, facilitating translation at low temperatures. Caulobacter crescentus cspA and cspB are induced upon cold shock, while cspC and cspD are induced during stationary phase. In this work, we determined a new coding sequence for the cspC gene, revealing that it encodes a protein containing two CSDs. The phenotypes of C. crescentus csp mutants were analyzed, and we found that cspC is important for cells to maintain viability during extended periods in stationary phase. Also, cspC and cspCD strains presented altered morphology, with frequent non-viable filamentous cells, and cspCD also showed a pronounced cell death at late stationary phase. In contrast, the cspAB mutant presented increased viability in this phase, which is accompanied by an altered expression of both cspC and cspD, but the triple cspABD mutant loses this characteristic. Taken together, our results suggest that there is a hierarchy of importance among the csp genes regarding stationary phase viability, which is probably achieved by a fine tune balance of the levels of these proteins.
Microplastic ingestion has been reported for several marine species, but the level of contamination in transitional systems and associated biota is less known. The aim of this study was to assess the ...occurrence of microplastic ingestion in three commercial fish species: the sea bass (Dicentrarchus labrax), the seabream (Diplodus vulgaris) and the flounder (Platichthys flesus) from the Mondego estuary (Portugal). Microplastics were extracted from the gastrointestinal tract of 120 individuals by visual inspection and digestion solution. A total of 157 particles were extracted from 38% of total fish (96% fibers), with 1.67 ± 0.27 (SD) microplastics per fish. Significantly higher amount of ingested microplastics was recorded for D. vulgaris (73%). The dominant polymers identified by μ-FTIR were polyester, polypropylene and rayon (semi-synthetic fiber). It is reported for the first time the presence of this pollutant in fish populations from the Mondego estuary raising concerns on their potential negative effects.
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•Microplastics occurred in 38% of three fish species from the Mondego estuary.•The highest abundance of microplastics was recorded in Diplodus vulgaris.•Fibers represented 96% of microplastics found in all analysed fish•Polyester, rayon and polypropylene were the dominant polymers identified by μ-FTIR.
Renal ischemia and reperfusion injury (IRI) is considered an inflammatory syndrome. To move forward in its pathogenesis, we exploited the role of several cytokines on renal damages triggered by IRI. ...Specifically to evaluate the role of Th1 immune profile in this system, IL-12, IFN-γ, and IFN-γ/IL-12 deficient (KO) mice on C57BL/6 background and their controls were subjected to IRI. In each group, blood and kidney samples were harvested. Renal function was evaluated by serum creatinine and renal morphometric analyses. Gene expression of IL-6 and HO-1 were also investigated by Q-PCR. IFN-γ KO animals presented the highest impairment in renal function compared to controls. Conversely, IL-12 KO animals were absolutely protected and, in a lesser extent, IFN-γ/IL-12 KO double knockout was also protected from IRI. Gene expression analyses showed higher expression of HO-1, a cytoprotective gene, and IL-6, a pro-inflammatory cytokine, in IFN-γ deficient animals subjected to IRI. Our results confirm that Th1 related cytokines such as IL-12 and IFN-γ are critically involved in renal ischemia and reperfusion injury.
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