Cyclosporin Treatment Improves Skin Findings in Omenn Syndrome

Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3‐month‐old girl was admitted to our hospital with a history of recurrent sepsis. Physical examination revealed severe erythroderma, hepatosplenomegaly, lymphadenopathy, and failure to thrive. Laboratory findings revealed leukocytosis, lymphocytosis with high CD3 T‐cells, a high CD4:CD8 ratio, absence of CD19 B‐cells, high eosinophil count, and low immunoglobulin levels. A heterozygote RAG1 gene mutation was found. She had itchy, scaling, ichthyosiform erythroderma and protracted diarrhea. Cyclosporin treatment up to 10 mg/kg effectively resolved erythroderma and lowered total eosinophil counts, and she gained weight during treatment. Since extensive erythroderma with generalized itching causes patient discomfort in Omenn syndrome, cyclosporin treatment can be considered while waiting for treatment with hematopoietic stem cell transplantation.     

Avaliação de Padrões Pressóricos Dipper e Não-Dipper e Qualidade de Vida entre Pacientes com Doença Pulmonar Obstrutiva Crônica

BackgroundNon-dipper blood pressure is defined by less than a 10% reduction in nighttime blood pressure, and it is associated with cardiovascular disease. Inflammation is thought to play a role in the pathogenesis of both chronic obstructive pulmonary disease (COPD) and non-dipper blood pressure pattern, and both diseases are associated with lower quality of life.ObjectiveThe aim of this study was to investigate the effects of non-dipper blood pressure pattern in patients with COPD.MethodsA cross-sectional study was carried out with 142 patients with COPD. The Saint George Respiratory Questionnaire and the Euro Quality of Life Scale were used to collect data. To understand arterial stiffness, the augmentation index and pulse wave velocity were measured, and 24-hour ambulatory blood pressure monitoring was subsequently performed. A multivariable logistic regression model was used to understand the relationship between different independent variables and blood pressure pattern. P values lower than 0.05 were considered statistically significant.ResultsAs a result, 76.1% (n = 108) of the patients had non-dipper blood pressure pattern. Non-dipper patients had higher C-reactive protein (OR:1.123; 95% CI:1.016;1.242), augmentation index (OR: 1.057; 95% CI: 1.011;1.105) and Saint George Respiratory Questionnaire total score (OR: 1.021; 95% CI: 1.001;1.042) than dipper patients. Also, as the number of people living at home increased, non-dipper blood pressure pattern was found to be more frequent (OR: 1.339; 95% CI: 1.009;1.777).ConclusionNon-dipper blood pressure pattern may increase cardiovascular risk by triggering inflammation and may adversely affect the prognosis of COPD by lowering the disease-related quality of life. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)     

The development of resistance in different inbred strains of mice to infection with Nematospiroides dubius

Infection by the intestinal nematode parasite Nematospiroides dubius was studied in seven different inbred mouse strains. Although there was some minor variation in the susceptibility of the different strains to a primary infection there were marked differences in their ability to develop resistance to infection following repeated exposure to infective larvae. The strains of mice which developed the best resistance also expelled adult worms arising from the previous infections. The adult worms resulting from a primary infection were slowly eliminated in two inbred strains studied whereas no loss occurred from outbred LACA mice. Although males and females of two strains, C3H/HeJ and CBA/H were equally susceptible to a primary infection, the females developed better resistance than the male mice following two oral administrations of third stage larvae. Infected mice of every strain and both sexes contained high levels of IgG1 in the serum.     

骨骼肌缺血再灌注损伤及发病机制初探

目的：探讨骨骼肌缺血再灌注损伤过程的微循环变化。组织学改变以及多肽含量变化和意义。方法：42只雄性大鼠随机分为留伴行神经组和去伴行神经组,建立标准骨骼肌缺血再灌注模型,采用激光多谱勒及显微放大分析系统,组织学方法以及凝胶电泳方法等观察缺血再灌注损伤变化。结果：缺血再灌注损伤后的骨骼肌微血管管径在20分钟时恢复率基本达到高峰约60％,此后为平台期：90分钟最高峰,为75％,主干血管流速率亦在20分钟基本达到上限,病理检查显示：缺血的骨骼肌纤维呈空泡状,核形态增大,染色加深,红细胞严重聚集,凝胶蛋白电泳提示：缺血骨骼肌中分子量20KD左右的多肽显著增加。结论：骨骼肌缺血再灌注损伤发生后,骨骼肌的微循环发生不同程度的破坏,及因之导致骨骼结构损伤和异常的20KD多肽含量明显增加,以及红细胞凝聚,白细胞的改变,这些共同构成了缺血再灌注损伤机制。     

Lipids as key players in Alzheimer disease: alterations in metabolism and genetics

Advances in Alzheimer Disease (AD) research suggest that central nervous system (CNS) lipids play a key role in the pathogenesis. This role is attributed to the rich lipid content of CNS structures and the presence of blood brain barrier which disables the exchange of lipids between CNS and plasma. Among these lipids, cholesterol is a unique molecule provided mainly by its de novo synthesis in the CNS. Special apolipoproteins used for its efficient recycling within the CNS and special oxysterols formed that are specific to brain all contribute to the unique properties of the molecule. Above all, the presence of cholesterol in the membrane enables it to function as a regulator of a number of protein related processes such as the beta-amyloid precursor protein cleavage. Cholesterol reducing agents such as statins are recently proposed to have a protective role in AD. This review will focus on the role of cholesterol metabolism and genetics in AD. Current literature investigating the relationship between cholesterol and AD will be evaluated from the pathophysiological perspective. Genetic studies concerning proteins which are involved in the CNS cholesterol metabolism will also be summarized in the hope that genomics may stimulate further studies and thus contribute to a more clear understanding of the molecular mechanisms in the pathophysiology of AD.     

Electron microscopic evidence of persistent chlamydial infection following treatment

Chlamydia trachomatis infections of the female and male genital tracts are often asymptomatic and, thus, tend to become persistent. In the persistent state the typical Chlamydia life cycle is arrested and standard antibiotic regimens do not always eradicate this infection. We sought to relate treatment failures in men and women with persistent chlamydial genital tract infections to electron microscopic evidence of chlamydial persistence and with atypical morphological forms of the organism. Of 16 patients with chlamydial persistence following azithromycin treatment, morphological variants of this organism were observed by electron microscopy from one endocervical sample and one male urethral sample. We document the presence of intracellular inclusions containing only reticulate bodies, extracellular monomembrane and polymembrane phagosomes containing elementary bodies and reticulate bodies with abnormal outer membranes in the process of dividing extracellularly. These observations parallel previous in vitro studies of chlamydial persistence under adverse conditions. This capacity of C. trachomatis to undergo atypical morphological alterations in vivo may contribute to its persistence and relative resistance to antibiotics.