Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis, lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory findings, in the first year of life. The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to reflect on the best therapeutic management of this pathology. 相似文献
High performance functional coatings, based on hybrid organic/inorganic materials, are being developed to combine the polymer flexibility and ease of processing with the mechanical properties and versatility of inorganic materials. By incorporating silica nanoparticles (SiNPs) in the polymeric matrices, it is possible to obtain hybrid polymer films with increased tensile strength and impact resistance, without decreasing the flexural properties of the polymer matrix. The SiNPs can further be used as carriers to impart other functionalities (optical, etc.) to the hybrid films. By using polymer-coated SiNPs, it is possible to reduce particle aggregation in the films and, thus, achieve more homogeneous distributions of the inorganic components and, therefore, better properties. On the other hand, by coating polymer particles with silica, one can create hierarchically structured materials, for example to obtain superhydrophobic coatings. In this review, we will cover the latest developments in films prepared from hybrid polymer/silica functional systems. 相似文献
BackgroundThe primary role of infections in chronic urticaria (CU) is controversial. We hypothesised that streptococcal tonsillitis (ST) could be a primary cause of CU or acute recurrent urticaria (ARU).MethodsRetrospective study of 14 outpatients observed between January 2000 and December 2009, with CU/ARU and clinical and/or laboratorial suspicion of an aetiopathogenic link with ST. Clinical history, objective examination and laboratorial study were looked for. Three groups were defined: spontaneous resolution of urticaria, resolution after tonsillectomy, and still symptomatic.ResultsIn these patients, a causal relationship between ST and urticaria is supported by: markers of streptococcal infection, the perception of a clinical relationship between tonsillitis and urticaria, the decrease of urticaria severity with early antibiotherapy to tonsillitis and urticaria resolution after tonsillectomy.ConclusionsOur study encourages the investigation of tonsillitis in these otherwise idiopathic patients, especially until young adulthood and even in the absence of any symptoms. 相似文献
This study investigated the effect of resveratrol on bone healing and its influence on the gene expression of bone-related markers in rats exposed to cigarette smoke. Two calvarial defects were created in each of 60 rats, which were assigned equally (n = 20) to three groups: (1) resveratrol (10 mg/kg) + smoke exposure (SMK + RESV); (2) placebo + smoke exposure (SMK + PLA); or (3) placebo + no smoke exposure (NS + PLA). Substances were administered daily for 30 days following surgery. Smoke inhalation was started 7 days before surgery and continued for 30 days after surgery. One defect was processed for histomorphometric analysis and the other was used for mRNA quantification of bone-related gene expression by qPCR. The remaining defect was smaller in the SMK + RESV (2.27 ± 0.61 mm, P = 0.0003) and NS + PLA (2.17 ± 0.74 mm, P = 0.0005) groups than in the SMK + PLA group (3.12 ± 0.47 mm). Higher levels of Runx2 were observed in the NS + PLA group than in the smoke exposure groups (vs. SMK + PLA, P = 0002; vs. SMK + RESV, P = 0.052); levels of Lrp-5 were also higher in the no smoke exposure group (vs. SMK + RESV, P = 0.009; vs. SMK + PLA, P = 0.003). Resveratrol therapy decreased RANKL/OPG expression when compared to placebo (SMK + RESV vs. SMK + PLA, P = 0.017). Dkk1 levels were decreased in the SMK + RESV group when compared to the SMK + PLA (P = 0.006) and NS + PLA groups (P = 0.005). In conclusion, resveratrol optimizes the repair of critical-sized bone defects, up-regulating the gene expression of important bone remodelling markers in rats exposed to cigarette smoke inhalation. 相似文献
The insecticides imidacloprid (IMI), a neonicotinoid, and propoxur (PRO), an N-methylcarbamate compound, are pesticides widely used throughout the world. Although they are not used together to combat pests, both are often found in freshwater near agricultural areas. Thereby, the goal of this study was to evaluate the additive effects of IMI and PRO mixtures at environmental concentrations in relation to isolated compounds on Rhamdia quelen, a neotropical fish. The fish was exposed to IMI (0.11 µg/L), PRO (0.039 µg/L), or Mix (0.11 µg/L IMI plus 0.039 µg/L PRO) during 96 h. Glutathione S-transferase (GST), superoxide dismutase (SOD), catalase (CAT), acetylcholinesterase (AChE) activities were determined. To verify oxidative damage thiobarbituric acid reactive substances (TBARS), protein carbonyl (PC), reactive oxygen species contents (ROS), antioxidant capacity against peroxides (ACAP) were determined in gills, liver, brain and muscle. The results shows that a mixture of these pesticides at environmental concentrations inhibited acetylcholinesterase activity in the brain and induced oxidative damage in all analyzed tissues. These results reinforce the hypothesis that mixture of contaminants present in environment could induce additive or synergistic effects on fish species.