异基因造血干细胞移植受者代谢综合征的发生情况

异基因造血干细胞移植（hematopoieticcelltransplantation,HCT）后代谢综合征的发生主要由预处理导致的神经激素系统紊乱、血管内皮损伤、移植物的免疫和炎症作用以及继发的移植物抗宿主病及其治疗等引起。对代谢综合征及其组分（糖尿病、高血压、血脂紊乱等）的筛查可以尽早地调整治疗策略,控制危险因素的发生,进而降低远期的心血管疾病的发生率和致死率。为此,美国的研究人员回顾性分析了86例异基因HCT受者代谢综合征的发生情况,并与代谢综合征在普通人群中的流行情况进行比较。     

A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism

Parkinson＇s disease （PD） is the second most common neurodegenerative disorder characterized by a selective loss of nigrostriatal dopaminergic neurons. Clinical manifestations of this complex disease include resting tremor, bradykinesia, postural instability, gait difficulty and rigidity. Approximately 5%-10% of patients have genetic factors, yet etiology of PD remains unclear. Genetic deficits, environmental exposure, oxidative stress, mitochondrial dysfunction,     

Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a rare autosomal dominant skeletal dysplasia caused by abnormalities in the gene(s) coding for type IX collagen and cartilage oligomeric matrix protein. Clinically, the disease is characterized by abnormalities in the epiphyseal cartilage of multiple joints. Orthopedic manifestations include pain and restricted mobility. The disorder, which has a predilection for the femoral head and acetabulum, usually presents from the third to the fourth decade with secondary hip osteoarthritis. We report on 7 subjects affected by multiple epiphyseal dysplasia, which presented hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasty. All patients experienced pain relief and improved quality of life after surgical treatment.     

Peripheral neuropathy in Wegener's granulomatosis, Churg-Strauss syndrome and microscopic polyangiitis

Objective

To compare the clinical aspects of peripheral neuropathy associated with Wegener''s granulomatosis (WG), Churg–Strauss syndrome (CSS) and microscopic polyangiitis (MP).

Methods

Cohort study conducted in a single university hospital. Patients were included when a definite diagnosis of WG, CSS or MP was made according to the current classification criteria in our hospital, between 1999 and 2006. All patients underwent periodically clinical and electrophysiological screening for peripheral neuropathy, assessment of disability, and clinical and laboratory evaluation during a mean follow‐up of 38 months.

Results

Sixty‐four consecutive patients diagnosed with WG (26 patients), CSS (26 patients) and MP (12 patients) were recruited. Peripheral neuropathy occurred in 27/64 patients: six with WG, 15 with CSS and six with MP. Neuropathy occurred earlier in the disease history in CSS and MP compared with WG. Among patients with WG, those who developed peripheral neuropathy during follow‐up were older than those without neuropathy both at the time of onset and of diagnosis of vasculitis. Distal symmetric polyneuropathy was present in 11 patients, and single or multiple mononeuropathy in 16. Patients with WG had a less severe form of mononeuritis multiplex than CSS or MPA patients. Disability and pain were greater in patients with mononeuropathy, although one‐third of them were painless. Relapses of neuropathy were extremely infrequent.

Conclusions

Peripheral neuropathy in WG occurs less frequently, later in the disease course and in a milder form than in CSS and MP. Single or multiple mononeuropathy associated with these subsets of vasculitis can often be painless.Wegener''s granulomatosis (WG), Churg–Strauss syndrome (CSS) and microscopic polyangiitis (MP) constitute a group of small vessel systemic vasculitides (SVSVs), involving preferentially venules, capillaries and arterioles, that share common histological features. They are often referred to as “pauci‐immune” SVSVs, because of the scarceness of immune complex deposition, or as “ANCA associated” SVSVs because antineutrophil cytoplasmic antibodies (ANCA) are often found in the serum of patients.^1,2 Despite this nomenclature, ANCA may be absent in some patients in all three subsets, but more often in CSS. While the diagnostic relevance of ANCA is widely accepted, there is still debate on their possible, if any, pathogenetic role.^3,4,5,6 The main distinctive features of the three subsets include: necrotising granulomatous inflammation in the absence of asthma for WG, asthma, eosinophilia and necrotising granulomatous inflammation for CSS and absence of both granulomatous inflammation and asthma for MP.SVSVs can affect virtually any organ system in the body, resulting in a wide variety of signs and symptoms. The peripheral nervous system represents no exception, being frequently involved, and may also be an initial manifestation of the clinical picture.^7,8 Pathogenesis is linked to a primary process of inflammation and of the vessel wall, resulting in blood flow impairment and, ultimately, in ischaemia of the supplied tissues. However, vasculitic processes with very similar histological features and anatomical distribution may determine heterogeneous clinical pictures and outcomes.^9,10 In this study, we evaluated 64 consecutive patients diagnosed with pauci‐immune SVSV in order to determine differences in the involvement of the peripheral nervous system in the three subsets.     

Cleavage of cystatin C is not associated with multiple sclerosis

Recently, Irani and colleagues proposed a C-terminal cleaved isoform cystatin C (12.5 kDa) in cerebrospinal fluid as a marker of multiple sclerosis. In this study, we demonstrate that the 12.5 kDa product of cystatin C is formed by degradation of the first eight N-terminal residues. Moreover, such a degradation is not specific in the cerebrospinal fluid of multiple sclerosis, but rather is given by an inappropriate sample storage at -20 degrees C. We conclude that the use of the 12.5 kDa product of cystatin C in cerebrospinal fluid might lead to a fallacious diagnosis of multiple sclerosis. Preanalytical validation procedure is mandatory for proteomics investigations.     

HIV-1包膜蛋白2G12和2F5中和表位的改造对假病毒形成及中和活性的影响

目的 研究HIV-1膜蛋白(Env)特定中和表位的改造对功能性假病毒形成及中和活性的影响.方法 采用环形诱变及Dpn I筛选的方法对Env进行定点突变,将2G12和2F5两个中和表位整合入不含该表位的BC亚型的Env上,比较改造对假病毒的形成情况及对2G12和2F5单抗的中和活性的影响.结果 对5株假病毒(BC02、BE03、BC04、BC05和BC12)的Env特定中和表位进行改造,其中BC04和BCl2的2G12表位改造后,不能形成假病毒,BC02、BC03和BC05增加2G12和2F5两个表位后,仍能够形成假病毒,且假病毒滴度较改造前无明显变化,改造后的BC03假病毒较改造前对单抗2G12和2175的中和活性均有所提高,而改造后的BE02和BC05假病毒较改造前对单抗2F5的中和活性增强,而对单抗2G12的中和活性无变化.结论 2G12中和表位部分位点的改造影响假病毒的形成,中和表位的增加能够提高单抗2G12的中和活性,为免疫原的优化提供了新思路.     

Analysis of NREM sleep in children with Prader–Willi syndrome and the effect of growth hormone treatment

ObjectivesOnly few studies are available in the literature on sleep in children with Prader–Willi syndrome (PWS) and one single study analyzed the cyclic alternating pattern (CAP) in young adults with PWS, showing that patients with a higher proportion of A1 subtypes presented less severe GH deficiency. The aims of our study were to evaluate CAP in children with PWS compared to an age-matched control group and to evaluate the differences between PWS children with (GH+) and without (GH?) GH therapy.MethodsLaboratory polysomnographic sleep recordings were obtained from 30 children with PWS (17 GH? and 13 GH+ patients) and 15 age-matched normal controls.ResultsCompared to controls, PWS children had a reduction of sleep efficiency, of sleep stage 2 and of REM sleep. GH? PWS patients showed a global decrease in total CAP rate during S1 and S2 but not in SWS. In GH+ PWS patients, SWS CAP rate and A1 index were increased vs. GH? children.DiscussionThe decrease in total CAP rate and all A subtypes might suggest the presence of a decreased NREM sleep instability in our PWS children and can be considered to be in agreement with the reported generalized hypoarousal state of PWS subjects. GH therapy is likely to increase CAP rate and A1 index during SWS in PWS patients.     

借鉴军队院校管理模式 推行量化考评规范实习生管理

本文通过对当前军队医院实习生管理现状的分析,探讨了军队院校管理模式、量化考评在医院实习生管理中的作用,提出了一些具体的工作方法和措施。