O等位基因引起ABO基因型与表现型定型差异

保证输血时血清学方面的安全,首要的是对受血者与献血者ABO血型定型,血清学检查通常分两个步骤.正定型通常使用鼠源单克隆抗体检测红细胞表面是否存在A或B抗原.互补的实验即反定型,利用当红细胞上缺乏A或B抗原时,人群可天然产生相对应的抗体的原理,检测血清中是否存在抗-A或者抗-B抗体.确定了受血者红细胞表面的ABO抗原以及血浆中的抗体,便能确定血型,为其提供相合的血液.     

Systemic lupus erythematous and seminoma of the ovary

A new case of ovarian seminoma associated with systemic lupus erythematosus is reported. The neoplasia was discovered during a flare-up of lupus. Excision of the seminoma followed by radiotherapy resulted in a 7 1/2-year long remission of systemic lupus erythematosus. This case agrees in every detail with a previously reported case, which suggests a pathogenetic relation between the two diseases. Although this association is rare, clinicians must be aware of its possibility and cautious when confronted with an ovarian abnormality in a young woman with systemic lupus erythematosus.     

The association of systemic lupus erythematosus and myasthenia gravis: a series of 17 cases, with a special focus on hydroxychloroquine use and a review of the literature

The coexistence of systemic lupus erythematosus (SLE) and myasthenia gravis (MG) is rarely reported, and most of the published studies are case reports. Hydroxychloroquine, an antimalarial agent, is an essential treatment in patients with SLE but special caution is recommended when used in MG patients. We retrospectively analyzed the clinical features, laboratory findings, and outcome of 17 patients with both diseases with a special focus regarding hydroxychloroquine use and with a review of the literature. All patients were women. The mean age at MG onset and SLE diagnosis was 34.5 [14-64] and 37.8 [18-72] years, respectively. The presenting symptoms of MG were limb weakness (94%), ocular (88%) and bulbar involvement (53%). Autoantibodies against the acetylcholine receptor were positive in 94% of cases. The main manifestations of SLE included arthritis (88%), cytopenias (53%) and skin rash (41%). Treatment of SLE required hydroxychloroquine (94%), steroids (47%) and immunosuppressive drugs (18%). Among eight patients (47%) who developed MG after initiation of hydroxychloroquine, the question of induction of MG by hydroxychloroquine was raised in one patient. On the other hand, an exacerbation of myasthenic symptoms was only seen in one of the eight patients who received hydroxychloroquine after the diagnosis of MG. Including our cases, we reviewed a total of 70 patients with SLE and MG. Compared with a large series of 1,000 unselected SLE patients, those with associated MG were older, had lower incidence of cutaneous, renal, and neurological manifestations, and higher frequency of anticardiolipin antibodies and lupus anticoagulant. In conclusion, the clinical pattern of patients with SLE and MG seems to be characterized by a less severe course of SLE and higher frequency of antiphospholipid antibodies. Hydroxychloroquine treatment appears to be safe in this setting.     

Review: Somatic mutations in neurodegeneration

Somatic mutations are postzygotic mutations which may lead to mosaicism, the presence of cells with genetic differences in an organism. Their role in cancer is well established, but detailed investigation in health and other diseases has only been recently possible. This has been empowered by the improvements of sequencing techniques, including single‐cell sequencing, which can still be error‐prone but is rapidly improving. Mosaicism appears relatively common in the human body, including the normal brain, probably arising in early development, but also potentially during ageing. In this review, we first discuss theoretical considerations and current evidence relevant to somatic mutations in the brain. We present a framework to explain how they may be integrated with current views on neurodegeneration, focusing mainly on sporadic late‐onset neurodegenerative diseases (Parkinson's disease, Alzheimer's disease and amyotrophic lateral sclerosis). We review the relevant studies so far, with the first evidence emerging in Alzheimer's in particular. We also discuss the role of mosaicism in inherited neurodegenerative disorders, particularly somatic instability of tandem repeats. We summarize existing views and data to present a model whereby the time of origin and spatial distribution of relevant somatic mutations, combined with any additional risk factors, may partly determine the development and onset age of sporadic neurodegenerative diseases.     

Differential medication adherence among patients with schizophrenia and comorbid diabetes and hypertension

OBJECTIVES: Global patient characteristics may affect adherence across all medications in a regimen, making medication-specific risk factors for adherence problems less important. Medication adherence was examined among patients with schizophrenia and comorbid physical conditions for consistency across therapeutic classes. METHODS: A national sample of veterans was selected according to use of medication for schizophrenia, diabetes, and hypertension (N=1,686). Adherence to each medication type was assessed with medication possession ratios (MPRs). Multilevel logistic models were used to study the impact of medication type on adherence, as well as the effect of other medication characteristics (such as the average days of medication supplied per refill), health service use, and patients' sociodemographic characteristics. RESULTS: Adherence was only modestly correlated across types of medication. Information about antipsychotic adherence explained only 13% and 16% of the variance in patients' antihypertensive and hypoglycemic MPRs, respectively. In unadjusted analyses, patients were more likely to have poorer adherence (MPR less than .8) to their antipsychotics (35%) than to their hypoglycemic (29%) or antihypertensive medications (26%) (p<.001). However, when analyses controlled for the average days' supply and other regimen characteristics, hypoglycemic and antihypertensive medications were associated with an increased risk of poor adherence relative to antipsychotics (both adjusted odds ratios=1.5, p<.001). CONCLUSIONS: Patients with schizophrenia and comorbid physical conditions demonstrated important differences in adherence across medications in their regimen, reinforcing the importance of medication-specific factors in determining adherence behavior. The lower levels of adherence observed for antipsychotics may be associated with the shorter refill intervals for these medications.     

Solitudes et mélancolies

Objectives

The aim here is to reflect on melancholia by exploring the role of the other and of his or her absence.

Dapsone in the management of autoimmune bullous diseases

Dapsone is used in the treatment of autoimmune bullous diseases (AIBD), a group of disorders resulting from autoimmunity directed against basement membrane and/or intercellular adhesion molecules on cutaneous and mucosal surfaces. This review summarizes the limited published data evaluating dapsone as a therapy for AIBD.