马克思关于人类社会阶段“跨越”发展的辩证法

马克思曾设想俄国农村公社有可能跨越资本主义制度“卡夫丁峡谷”而直接进入共产主义社会。本文运用马克思主义理论辩证地阐述了人类社会实现跨越发展所必备的条件内在因素、外在条件、动力以及跨越的内容。     

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes and genotype–phenotype correlation. We report 16 SOX5 variants all of which meet American College of Medical Genetics/Association for Clinical Genomic Science ACMG/ACGS criteria class IV or V. 7/16 have intragenic deletions of SOX5 and 9/16 have single nucleotide variants (including both truncating and missense variants). The cohort includes two sets of monozygotic twins and parental gonadal mosaicism is noted in one family. This cohort of 16 patients is compared with the 71 previously reported cases and corroborates previous phenotypic findings. As expected, the most common findings include global developmental delay with prominent speech delay, mild to moderate intellectual disability, behavioral abnormalities and sometimes subtle characteristic facial features. We expand in more detail on the behavioral phenotype and observe that there is a greater tendency toward lower growth parameters and microcephaly in patients with single nucleotide variants. This cohort provides further evidence of gonadal mosaicism in SOX5 variants; this should be considered when providing genetic counseling for couples with one affected child and an apparently de novo variant.     

Heroin in the United Kingdom: different forms, different origins, and the relationship to different routes of administration

Heroin exists in the United Kingdom in several different forms, which vary not only in their country of origin and purity, but also in their suitability for use by either injecting or by 'chasing the dragon'. The availability of these different forms of heroin has varied considerably over time. A review of the characteristics and availability of these various forms of heroin in recent years is presented, accompanied by consideration of their probable intended use by injection or by 'chasing the dragon'. Samples of black market heroin in the salt form are usually used by injection, whereas the base form is usually taken by 'chasing the dragon'. The heroin yield to the drug user from samples of heroin taken by 'chasing the dragon' varies according to its base or salt format and according to the presence of other drugs in the sample. Heroin samples from different countries of production mostly conform to either base or salt form. Novel approaches at the macro level to prevention and control of heroin-related problems through influence upon this complex heroin market-place should now be considered.     

Modulation of immunoglobulin production and cytokine mRNA expression in peripheral blood mononuclear cells by intravenous immunoglobulin

Intravenous immunoglobulin (IVIG) has the potential to regulate Ig production, but the mechanism(s) responsible for this effect is unknown. In experiments reported here, we examined the ability of IVIG to regulate Ig production in human peripheral blood mononuclear cells (PBMCs) stimulated with pokeweed mitogen (PWM). IVIG (2–10 mg/ml) showed a potent (80–85%) inhibition of PWM-stimulated IgG, IgM, and IgA production. To determine more precisely how IVIG mediated the inhibition of Ig production, we studied Ig promoting cytokine gene expression after PWM stimulation with or without IVIG (2 and 10 mg/ml) using dot-blot techniques. RNA was isolated from PBMCs at predetermined time points and probed with cDNAs specific for human cytokines (IL-1-, IL-2, IL-2R, IL-4, IL-5, IL-6, -IFN, and TNF-). IL-6 mRNA accumulation was maximal at 4.5 hr post-PWM stimulation and was inhibited 64–75% when IVIG (10 mg/ml) was present. -IFN mRNA levels peaked at 72 hr poststimulation and were also 68–75% inhibited by IVIG. IL-2 mRNA levels peaked at 4.5 hr and were 23–46% inhibited by IVIG. The inhibitory effect of IVIG on production of these cytokines (IL-6 and -IFN) was also observed at the protein level in sonicated PBMCs after incubation with PWM and IVIG. The mRNA levels for other cytokines were not or only minimally inhibited by IVIG. Addition of IL-6, -IFN, or IL-2 partially restored Ig production in IVIG-treated PWM-stimulated cultures, suggesting that inhibition of other cytokines or another mechanism(s) independent of cytokine inhibition might also be involved, although inhibition of IL-6, -IFN, and IL-2 may be one of the critical factors in the suppression of Ig production by IVIG.     

Insulin concentrations and insulin sensitivity after short-term amiloride in healthy subjects

We have evaluated the short-term effects of amiloride on insulin action in vivo, since amiloride is known to impair insulin action in vitro.Seven healthy subjects were treated according to a randomized, double-blind, cross-over protocol. The treatment periods were 3 days each with amiloride 15 mg daily and placebo. Insulin action on glucose turnover was assessed directly after each treatment period with the hyper-insulinaemic euglycaemic glucose clamp technique.At the two insulin concentrations studied ( 30 mU·l^–1 and 200 mU·l^–1), the glucose infusion rate required to maintain constant euglycaemia did not differ after either amiloride or placebo. The rates of glucose production and utilization were also similar, whereas the so-called insulin sensitivity index at the lower insulin concentration was significantly reduced (by about 15 %) after amiloride. Moreover, amiloride produced significantly higher fasting insulin and C-peptide concentrations, whereas fasting glucose and NEFA concentrations were unaltered.In conclusion, these data suggest that short-term amiloride slightly impairs insulin sensitivity with respect to glucose uptake. However, overall glucose homoeostasis does not appear to be affected, probably due to a compensatory rise in plasma insulin.     

腭裂术后语音的实验研究

提供一种易被患者接受、无害、科学客观的腭裂术后语音缺陷的诊断方法。方法：随机选择各种腭裂类型的腭裂术后患者４７例,将其语音输入ＫＡＹ７８００语图仪,分析其语音特点和语图表现。结果：腭裂术后语音有３大语音特点和８类语图表现。３大语音特点是残缺、代偿和干扰;８类语图表现是辅音残缺、共振峰残缺、送气代偿、浊化代偿、喉塞代偿、鼻音干扰元音、鼻音干扰辅音和噪音干扰。结论：腭裂术后患者口腔内的能量不足是造成以上语音缺陷的主要原因。     

噪声、振动复合因素对汉语语音清晰度影响的研究

目的 探讨噪声、振动复事因素下生成语音在听觉效果上的变化及变化规律。方法 在安静及信噪比分别为０ｄＢ和－６ｄＢ三种状态下进行清晰度测试,以研究噪声、振动复合因素组、单独噪声组、单独振动组及对照组４个组的语音材料清晰度变化规律。结果 和对照组相比,复合因素作用下语音清晰度有明显降低,检验结果非常显著;和单因素相比,多数情况下有显著性变化。研究还发现,清晰度的降低随听音环境的信噪比的降低而变得严重,当     

Metabolic base production and mucosal vulnerability during acid inhibition in a mammalian stomachin vitro

Acid inhibition increases gastric mucosal susceptibility to damage by luminal acid. This might be due to reduced metabolic CO₂ and bicarbonate whereas, during normal acid, secretion cytoprotective CO₂/HCO₃- production parallels acid production. Metabolic activity and mucosal damage caused by luminal acid perfusion was determined in anin vitro mouse stomach, with and without acid inhibition, and at 0%, 1%, or 5% serosal CO₂ supply. Without acid inhibition there was no mucosal damage at any level of serosal CO₂/HCO₃- supply. Acid inhibition reduced metabolic CO₂ production by 29% (P<0.004) and resulted in microscopic damage to 55% of the mucosal area and perforation in four of five stomachs (P<0.05). Although, 1% CO₂ supply completely replaced the reduction in metabolic CO₂, it did not protect against mucosal damage. Overreplacement by 5% serosal CO₂/HCO₃- was required to prevent damage. There was no correlation between luminal CO₂/HCO₃- output and mucosal damage. The protection by endogenous or exogenous CO₂/HCO₃- appears to act intracellularly rather than by intragastric or intercellular neutralization.This study was supported by Swiss National Foundation grants 32-26369.89 and 32-33626.92. The morphometry equipment was supported by a grant from the Osterreichische Nationalbank.     

Swallowing,speech, and brainstem auditory-evoked potentials in spasmodic torticollis

To explore the controversial brainstem theory of spasmodic torticollis, eight consecutively referred patients were examined. Three independent examinations were conducted on the same day: a videofluoroscopic barium swallowing examination, an instrumental speech examination, and a brainstem auditory-evoked potential (BAEP) analysis. Swallowing was normal in two patients; speech physiology, in five; and BAEPs, in all. Normal BAEPs refute the brainstem theory, while abnormalities of speech and swallowing temper this conclusion. Several alternative explanations are proposed.The authors have no commercial or proprietary interest in any product mentioned in this article.