Síndrome de Berardinelli-Seip: Menino com Baixo Peso e Tecido Subcutâneo Ausente

Paciente de 6 anos, masculino, tem história de baixo peso desde a infância, apesar de adequada ingestão calórica. No exame físico, foi constatada a total ausência de tecido adiposo subcutâneo, musculatura hipertrófica e acantose nigricante em axila direita. Na avaliação laboratorial, foi evidenciado colesterol total de 207 mg/dl, triglicerídeos 349 mg/dl, HDL 29 mg/dl, glicemia 83 mg/dl, TGO 78 mg/dl e TGP 111 mg/dl. Foi firmado o diagnóstico clínico de lipodistrofia de Berardinelli-Seip

Solubilidade do Metanol, Etanol e Isopropanol em Óleos Vegetais a Diferentes Temperaturas e Pressão Atmosférica

O estudo da solubilidade de alcoóis em diferentes óleos vegetais é importante para processos industriais como, por exemplo, refino do óleo bruto, extração de óleos vegetais e processos de produção de biodiesel. Os resultados foram obtidos a partir de estudo do equilíbrio líquido-líquido utilizando célula de equilíbrio com agitação e termostatização. Os óleos vegetais escolhidos para o estudo foram óleo de canola, óleo de girassol, óleo de milho e óleo de soja. Os estudos foram conduzidos na faixa de 293,15 K a 333,15 K para os solventes metanol e etanol e na faixa de 290,15 K a 296,15 K para o isopropanol. Observou-se um aumento da solubilidade dos alcoóis nos óleos vegetais com o aumento da temperatura. Observou-se também um aumento da solubilidade dos alcoóis nos óleos vegetais com o aumento da cadeia carbônica do álcool

The 10Be record as a proxy of paleomagnetic reversals and excursions: A Mediterranean perspective

The 10Be/9Be ratio is acknowledged as an effective tool for establishing the stratigraphic position of paleomagnetic excursions. Still, our data suggest that, in particular depositional settings, the interplay between climate, sedimentation and oceanography may jeopardize a realistic depiction of the natural 10Be/9Be record

Short stature : investigation and detection of growth-hormone-deficience

Este artigo discute as definições de baixa estatura e descreve características clínicas e laboratoriais de suas principais causas, enfatizando principalmente o diagnóstico da deficiência de hormônio de crescimento através da medida de IGF-1 e da interpretação de testes de estímulo do GH. Sugere um fluxograma diagnóstico a ser utilizado na avaliação de crianças com baixa estatura.This paper discuss the definition of short stature and describes clinical and biochemical characteristics of the most important associated disturbances, specially the growth hormone deficiency. For this diagnosis, we emphasize the application the IGF-1 measure and the GH-clonidine stimulation test. In conclusion, we suggest a standard protocol evaluation for use in the routine evaluation of the children with short stature

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

Characterization of the physical and chemical controls on the environmental geochemical behavior of beryllium

In this dissertation, we investigate the geochemical controls on the behavior of beryllium to better constrain its use as a geomorphologic and geochronologic tool and to characterize its potential mobility as a toxic environmental contaminant. First, we investigated the effects of soil chemistry on beryllium retention. We find that beryllium sorption varies significantly depending on the pH, complexing ligand and type of mineral present. Overall, sulfur and phosphorus oxides as well as soil acidity exert the strongest control on beryllium sorption. Next, we investigated the relative effect of different chemical perturbations on the desorption of beryllium from organic ligands and minerals that demonstrated particular sorption ability in our first body of work. We determined that reducing the pH promoted the greatest amount of beryllium desorption. Overall, we found that beryllium sorbed to organic compounds was more resistant to desorption relative to mineral-bound beryllium. We estimate that beryllium sorption by the organic ligands tested and illite were governed by inner sphere complexation while outer sphere processes were more prevalent among montmorillonite. Finally, with a new understanding of the chemical controls on beryllium retention from our previous work, we are able to develop a mathematical relationship that predicts the beryllium sorption capacity of a system based on the product of the cation exchange capacity and inverse percent quartz. We can use this relationship to compare beryllium concentrations from field measurements to the total beryllium sorption capacity independent of the specific physical and chemical properties of soil