Resumen Introducción y objetivo: Demostrar el valor del plano axial del complejo posterior, como apoyo a la detección antenatal de sintelencefalia, variante de holoprosencefalia. Método: Se ...incluyeron todas las pacientes con diagnóstico de sintelencefalia evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de neurosonografía (NSG), de resonancia magnética (RM) y genética. Resultados: Cuatro casos fueron diagnosticados en el segundo trimestre y en todos se realizó estudio genético y RM. Tres tuvieron en su evolución anomalías extra-SNC y dos de ellos alteraciones cromosómicas, una de ellas incompatible con la vida extrauterina. Lo hallazgos descritos en neuroimagen para esta afección fueron detectados en la NSG, con una excelente correlación con RM, ya fuera esta última realizada en periodo fetal o posnatal. Conclusión: El diagnóstico prenatal de variantes de holoprosencefalia es difícil, considerando la existencia de una fusión medial más acotada que en las formas clásicas. El presente estudio demuestra la utilidad del plano del complejo posterior para la sospecha diagnóstica de sintelencefalia.
Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study ...was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, history and site of the fractures, biochemical data, including calcium, phosphorus, and alkaline phosphatase levels, were systematically collected. Bone mineral density (BMD) was measured using dual energy X-ray absorptiometry (DXA). Forty-five patients (26 females) were included in the study, and the age of the patients at the time of diagnosis ranged from 1 to 144 months, with a median age (p25-p75) of 38 (5-96) months. Most cases presented OI-4 (51.1%), and the median age of the patients at the start of treatment was 3.3 years (25-75 percentiles: 0.5 - 8.7 years). Twenty-four patients (54.5%) had some adverse events or intercurrences during treatment, and the treatment compliance mean was 92.3% (± 10.7). The treatment with intravenous pamidronate has shown to be safe, well-tolerated, and effective in regard to the improvement of BMD and the reduction of the number of fractures in children and adolescents with OI.
Pregnant women are at greater risk of adverse outcomes, including mortality, as well as obstetrical complications resulting from COVID-19. However, pregnancy-specific changes that underlie such ...worsened outcomes remain unclear.
Plasma samples were collected from pregnant women and non-pregnant individuals (male and female) with (n = 72 pregnant, 52 non-pregnant) and without (n = 29 pregnant, 41 non-pregnant) COVID-19. COVID-19 patients were grouped as asymptomatic, mild, moderate, severe, or critically ill according to NIH classifications. Proteomic profiling of 7,288 analytes corresponding to 6,596 unique protein targets was performed using the SOMAmer platform.
Herein, we profile the plasma proteome of pregnant and non-pregnant COVID-19 patients and controls and show alterations that display a dose-response relationship with disease severity; yet, such proteomic perturbations are dampened during pregnancy. In both pregnant and non-pregnant state, the proteome response induced by COVID-19 shows enrichment of mediators implicated in cytokine storm, endothelial dysfunction, and angiogenesis. Shared and pregnancy-specific proteomic changes are identified: pregnant women display a tailored response that may protect the conceptus from heightened inflammation, while non-pregnant individuals display a stronger response to repel infection. Furthermore, the plasma proteome can accurately identify COVID-19 patients, even when asymptomatic or with mild symptoms.
This study represents the most comprehensive characterization of the plasma proteome of pregnant and non-pregnant COVID-19 patients. Our findings emphasize the distinct immune modulation between the non-pregnant and pregnant states, providing insight into the pathogenesis of COVID-19 as well as a potential explanation for the more severe outcomes observed in pregnant women.
The extent (or lack) of phylogenetic signal for key ecological traits reveals the role of evolutionary processes on present‐day ecosystem function and hints on future ecological trends under climate ...change scenarios. This approach has been applied to South American tropical moist forests, but not to the highly threatened seasonally dry tropical forests (SDTF), despite the acknowledgement of their unique evolutionary history. To fill this knowledge gap, we investigated the legacy of evolutionary processes on vital ecological characteristics among SDTF trees: regional dominance, tree size and soil preference.
We used tree community data on 313 plots of SDTF (12.52 ha) and locally collected soil data in central‐eastern Brazil. For each assessed trait (three for regional dominance, three for tree size and nine for soil preference), we investigated the legacy of evolution using two different approaches: calculating the extent of phylogenetic signal and comparing the fit of four different models of evolution.
Above‐ground woody biomass and tree size showed strong phylogenetic signal. Most of the SDTF biomass stock was concentrated on a few large‐sized and closely related tree genera. Among the soil preference variables, only phosphorus displayed significant, albeit weak, phylogenetic signal.
Synthesis. Our study is the first to show that evolutionary constraints related to tree size significantly determine regional biomass stocks of seasonally dry tropical forests (SDTF) in a few closely related tree lineages. This suggests that even isolated SDTF fragments with low taxonomic and phylogenetic diversity can play an important role in the global carbon cycle, storing disproportionally large amounts of carbon in trees that belong to high‐biomass lineages. Whether these lineages also share climate change‐induced mortality risk deserves future investigation, as they are largely responsible for the maintenance of regional SDTF biomass stocks.
Resumo
A extensão (ou falta) de sinal filogenético para características ecológicas revela o papel de processos evolutivos em funções ecossistêmicas atuais e sugere futuras tendências ecológicas sob o cenário das mudanças climáticas. Esta abordagem já foi aplicada às florestas úmidas tropicais da América do Sul, mas não às ameaçadas florestas tropicais sazonalmente secas (FTSS), apesar de seu histórico evolutivo único. Para preencher esta lacuna, nós investigamos o legado de processos evolutivos em características ecológicas essenciais entre árvores de FTSS: dominância regional, tamanho de árvores e preferência edáfica.
Usamos dados da comunidade arbórea e dados de solo localmente coletados em 313 parcelas (12,52 hectares) de FTSS do centro‐leste brasileiro. Para cada característica avaliada (três para dominância regional, três para tamanho de árvores e nove para preferência edáfica), investigamos o legado da evolução a partir de duas abordagens: calculando a extensão do sinal filogenético e comparando o ajuste de quatro modelos de evolução.
Encontramos forte sinal filogenético para biomassa lenhosa acima do solo e tamanho de árvores. A maior parte do estoque de biomassa das FTSS esteve concentrado em alguns gêneros aparentados que possuem grandes árvores. Entre as variáveis de preferência edáfica, somente fósforo apresentou sinal filogenético significativo, ainda que fraco.
Síntese. Nosso estudo é o primeiro a mostrar que restrições evolutivas relacionadas ao tamanho de árvores determinam significativamente o estoque regional de biomassa de FTSS em linhagens aparentadas de árvores. Isto sugere que mesmo fragmentos isolados de FTSS com baixas diversidades taxonômica e filogenética podem ter um papel importante no ciclo de carbono global, estocando quantidades desproporcionalmente grandes de carbono em árvores que pertencem a linhagens de alta biomassa. Também merece ser investigado se estas linhagens compartilham risco de mortalidade induzido pelas mudanças climáticas, uma vez que elas são amplamente responsáveis pela manutenção dos estoques regionais de biomassa em FTSS.
Our study is the first to show that evolutionary constraints related to tree size significantly determine regional biomass stocks of seasonally dry tropical forests (SDTF) in a few closely related tree lineages. This suggests that even isolated SDTF fragments with low taxonomic and phylogenetic diversity can play an important role in the global carbon cycle, storing disproportionally large amounts of carbon in trees that belong to high‐biomass lineages. Whether these lineages also share climate change‐induced mortality risk deserves future investigation, as they are largely responsible for the maintenance of regional SDTF biomass stocks.
Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, ...drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil.
In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQL
) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated.
The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains.
Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control.
Objective: Ureaplasma urealyticum and Mycoplasma hominis are the most common microorganisms found in the amniotic fluid of patients at risk for preterm delivery. However, culture techniques for ...genital mycoplasms require special conditions, are barely considered as part of the evaluation of suspected intra-amniotic infection (IAI) and the results are available within 2 and 7 days. The objectives of this study are to validate the use of two commercially available kits (Mycoplasma IES y MYCOFAST
®
RevolutioN) for the identification of Ureaplasma spp. and Mycoplasma hominis in amniotic fluid, to compare the results of these kits with those obtained by culture and real-time polymerase chain reaction (qPCR) and to report the antibiotic sensitivity profile of the genital mycoplasms identified.
Methods: This is a prospective cohort study including women with singleton and twin gestations between 16 and 36 weeks. Patients were admitted to perform an amniocentesis due to pregnancy complications considered at high risk for IAI (e.g. preterm labor with intact membranes, preterm prelabour rupture of membranes, short cervix, etc.), treatment of polyhydramnios, and for the assessment of fetal death and fever without a focus.
Results: Overall, 93 patients underwent amniocentesis and 63 had results available for all tests. The prevalence of a positive culture was 6% (4/63). There were four cases of Ureaplasma spp. and none of Mycoplasma hominis. The qPCR identified one case as Ureaplasma spp., one case as Ureaplasma parvum and two cases as Ureaplasma urealyticum. For all tests, the diagnostic performance was as follows: sensitivity 100% 95% CI (39.8-100%), specificity 100% 95% CI (93.9-100%), positive predictive value 100% 95% CI (39.8-100%) and negative predictive value 100% 95% CI (93.9-100%). In this cohort, Ureaplasma spp. showed low resistance to erythromycin, but a high resistance to clindamycin and clarithromycin that may change according to the antibiotic concentration.
Conclusions: To our knowledge, this is the first study that validates the use of the Mycoplasma IES and MYCOFAST
®
RevolutioN kits for the identification of genital mycoplasmas in amniotic fluid. The results of these kits are mostly available within 24 hours, have an excellent correlation with those from broth cultures and qPCR and characterize the antibiotic sensitivity profile of the genital mycoplasms identified, providing an opportunity for specific treatment in cases of IAI. Further validation studies in other populations are needed.
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