血清NSE、LDH和CRP动态检测在新生儿缺氧缺血性脑病中的临床意义

目的 探讨神经元特异性烯醇化酶(NSE)、乳酸脱氢酶(LDH)和C反应蛋白(CRP)动态检测在新生儿缺氧缺血性脑病(HIE)中的临床意义.方法 检测68例缺氧缺血性脑病新生儿(HIE组)出生第3天、第7天和第10天血清中NSE(电化学法)、LDH(酶法)和CRP(免疫比浊法)的含量变化.另选35例健康足月新生儿作为对照.结果 HIE组出生3天血清NSE、LDH的水平分别为(36.5±6.81)ng/L、(481.27±23.00)U/L,明显高于对照组的(9.61±2.42)ng/L、(98.33±18.69)U/L,差异有统计学意义(P<0.01),第7天时有所下降,与对照组比较差异有统计学意义(P<0.05);CRP含量在第7天明显高于对照组(P<0.01),第10天明显下降,与对照组比较差异无统计学意义(P>0.05).结论 HIE患儿生后脑损伤越重,血NSE、LDH水平越高,而且随病情恢复进行性降低,CRP应答迟发,联合检测对早期准确了解脑损伤有重要意义.     

Abrogation of spontaneous liver tolerance during immune response to Candida albicans: contribution of NKT and hepatic mononuclear cells

Hepatic mononuclear cells (HMC) are a heterogeneous population with innate immune properties involved in the response to several pathogens. Herein, during the primary infection with Candida albicans, we observed dynamic changes in CD3+, NK+ and NKT+ intrahepatic lymphoid subsets and a significant increase in the absolute number of antigen-presenting cells (APC). The liver tolerogenic microenvironment sustained by higher levels of IL-10, transforming growth factor-β and IL-4 was severely modified upon the robust IFN-γ production after the fungal colonization. NKT cells purified from infected animals released significant amounts of IFN-γ and the production of this cytokine was exacerbated after a second contact with the fungus. Interestingly, C. albicans per se was unable to activate tolerogenic NKT cells from naive animals. In vitro experiments performed with HMC cells depleted of the CD11b/c+ population revealed that in the absence of APC, NKT cells are unable to produce IFN-γ in response to C. albicans. Our findings constitute the first evidence that this innate lymphocyte population is involved in the pathogenesis of C. albicans infection.     

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG)( n ) expansion in intron 1 of the CNBP gene. In DM2 there is no obvious evidence for an intergenerational increase of expansion size, and no congenital cases have been confirmed. We describe the clinical and histopathological features, and provide the genetic and molecular explanation for juvenile onset of myotonia in a 14-year-old female with DM2 and her affected mother presenting with a more severe phenotype despite a later onset of symptoms. Histological and immunohistochemical findings correlated with disease severity or age at onset in both patients. Southern blot on both muscle and blood samples revealed only a small increase in the CCTG repeat number through maternal transmission. Fluorescence in situ hybridization, in combination with MBNL1 immunofluorescence on muscle sections, showed the presence of mutant mRNA and MBNL1 in nuclear foci; the fluorescence intensity and its area appeared to be similar in the two patients. Splicing analysis of the INSR, CLCN1 and MBNL1 genes in muscle tissue demonstrates that the level of aberrant splicing isoforms was lower in the daughter than in the mother. However, in the CLCN1 gene, a heterozygous mutation c.501C>G p.F167L was present in the daughter's DNA and found to be maternally inherited. Biomolecular findings did not explain the unusual young onset in the daughter. The co-segregation of DM2 with a recessive CLCN1 mutation provided the explanation for the unusual clinical findings.     

Pathways to specialist care for eating disorders: An Italian multicentre study

Two hundred forty six patients with eating disorders (EDs) recruited from eight Italian specialized treatment centres were administered with the World Health Organization “Encounter Form,” a standardized schedule that makes it possible to characterize the clinical pathways that patients follow to reach specialized care. The median time from symptoms onset to specialized care was 114 weeks. Primary “points of access to care” were general practitioners (25%), psychiatrists (18%), and clinical nutritionists (17%), followed by various other carers. All patients received specific psychotherapy, whereas only 11% of them were given psychotropic drugs. EDs are characterized by complex care pathways, with low rates of direct access to specialized care. Although the role of general practitioners remains crucial, they tend to follow different clinical routes to refer ED patients. Educational programmes on EDs should be addressed to general practitioners and clinical nutritionists, in order to ease the transition of ED patients to a mental health care setting.