Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD geneencodes a novel ubiquitous protein, emerin, which decorates the nuclear rim of many cell types. Amino acid sequence homology and cellular localization suggested that emerin is a member of the nuclear lamina-associated protein family. These findings did not explain the role of emerin nor account for the skeletal muscle- and heart-specific clinical manifestations associated with the disorder. Now we report that emerin localizes to the inner nuclear membrane, via its hydrophobic C-terminal domain, but that in heart and cultured cardiomyocytes it is also associated with the intercalated discs. We propose a general role for emerin in membrane anchorage to the cytoskeleton. In the nuclear envelope emerin plays a ubiquitous and dispensable role in association of the nuclear membrane with the lamina. In heart its specific localization to desmosomes and fasciae adherentes could account for the characteristic conduction defects described in patients.      

A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness

The high affinity receptor for IgE (Fc epsilon RI) has a central role in mast cell degranulation and IgE mediated allergy. A systematic search through the coding regions of the beta subunit of Fc epsilon RI (Fc epsilon RI-beta) has identified a novel coding polymorphism in exon seven. An adenine to guanine substitution changes amino acid residue 237 from glutamic acid to glycine (E237G), in the cytoplasmic tail of the protein. E237G is predicted to introduce a hydrophobicity change within the C-terminus of Fc epsilon RI-beta. It is adjacent to the immunoreceptor tyrosine activation motif (ITAM), and may affect the intracellular signalling capacity of Fc epsilon RI. E237G was detected in 53 subjects from an Australian general population sample of 1004 individuals (5.3%). E237G positive subjects had a significantly elevated skin test response to grass (p = 0.0004) and house dust mite (p = 0.04), RAST to grass (p = 0.002) and bronchial reactivity to methacholine (p = 0.0009). The relative risk of individuals with E237G having asthma compared to subjects without the variant was 2.3 (95% CI 1.26-4.19; p = 0.005).      

Proton magnetic resonance spectroscopy in the brain: report of AAPM MR Task Group #9

AAPM Magnetic Resonance Task Group #9 on proton magnetic resonance spectroscopy (MRS) in the brain was formed to provide a reference document for acquiring and processing proton (1H) MRS acquired from brain tissue. MRS is becoming a common adjunct to magnetic resonance imaging (MRI), especially for the differential diagnosis of tumors in the brain. Even though MR imaging is an offshoot of MR spectroscopy, clinical medical physicists familiar with MRI may not be familiar with many of the common practical issues regarding MRS. Numerous research laboratories perform in vivo MRS on other magnetic nuclei, such as 31P, 13C, and 19F. However, most commercial MR scanners are generally only capable of spectroscopy using the signals from protons. Therefore this paper is of limited scope, giving an overview of technical issues that are important to clinical proton MRS, discussing some common clinical MRS problems, and suggesting how they might be resolved. Some fundamental issues covered in this paper are common to many forms of magnetic resonance spectroscopy and are written as an introduction for the reader to these methods. These topics include shimming, eddy currents, spatial localization, solvent saturation, and post-processing methods. The document also provides an extensive review of the literature to guide the practicing medical physicist to resources that may be useful for dealing with issues not covered in the current article.     

有严重躯体疾病老年自杀死亡者的特征及其有无精神障碍者间的比较

目的了解有严重躯体疾病的老年自杀死亡者的特征并比较有无精神障碍者特征的异同。方法由精神科医师运用心理解剖方法对全国23个疾病监测点上报的≥55岁的304例自杀案例的家属和周围知情人进行调查,分析其中178例(58.6%)报告自杀死亡前1年内有严重躯体疾病者的自杀特征。结果178例自杀死亡者中,女性占41.6%;79.2%居住在乡村;58.4%从未上过学;38.8%丧偶;25.8%有自杀未遂既往史;10.7%一级血缘亲属有自杀行为;43.3%服农药或鼠药自杀,32.6%上吊;68.0%自杀当时有精神障碍,主要是重性抑郁障碍;仅5.1%自杀当时有人在场。有、无精神障碍者在社会人口经济学特征、有无自杀未遂史和自杀行为家族史、负性生活事件导致的慢性心理压力和急性应激强度以及自杀前一个月的生命质量等方面的差异无统计学意义(P均大于0.05)。结论有严重躯体疾病老年人自杀死亡最常见的两种方式是服毒和上吊,2/3有精神障碍,但有无精神障碍者的自杀相关特征无明显不同。     

Efficacy of oral naltrexone on pruritus in atopic eczema: a double-blind, placebo-controlled study

Aim  The intent of our study was to determine the efficacy of oral naltrexone, an opiod antagonist, in the treatment of pruritus in patients with chronic eczema.
Methods  This double-blind, placebo-controlled study recruited 38 patients with eczema complaining from pruritus. Pruritus scores were evaluated. Patients were given placebo ( n  = 20) or naltrexone 50 mg ( n  = 18) for 2 weeks period. During the study, pruritus scores based on visual analogue scale system (VAS) were assessed three times: at the start of study, after 1 week, and after 2 weeks.
Results  In both groups, decreased VAS scores were observed, but naltrexone showed to be significantly more effective than placebo in decreasing VAS score after 1 week ( P <  0.005) and 2 weeks ( P <  0.001).
Conclusion  Naltrexone is more effective than placebo in the treatment of pruritus in patient with eczema. Naltrexone might be considered as an adjunct treatment in the treatment of pruritus. However, further studies in this aspect are highly fostered.

Conflicts of interest

This study and the authors were not supported by any company with a vested interest in the product being studied and the project was funded by Skin Research Center.     

Genetic contributions to pain: a review of findings in humans

Pain represents the major motivating factor for which individuals seek healthcare, and pain responses are characterized by substantial inter‐individual differences. Increasing evidence suggests that genetic factors contribute significantly to individual differences in responses to both clinical and experimental pain. The purpose of this review article was to summarize the current literature regarding genetic contributions to pain, highlighting findings relevant to oral pain where available. A brief discussion of methodologic considerations is followed by a review of findings regarding genetic influences on clinical pain. Next, the literature examining genetic contributions to experimental pain responses is presented, emphasizing genetic associations that have been replicated in multiple cohorts. It is hoped that an enhanced understanding of genetic contributions to pain responses will ultimately improve diagnosis and treatment of clinical pain conditions.     

Extradural cavernous haemangioma simulating a disc protrusion

Cavernous haemangiomas confined to the epidural space are rare and are therefore infrequently considered in the differential diagnosis of spinal epidural masses. In order to draw attention to this diagnosis, a case in which an epidural cavernous haemangioma simulates a lateral/foraminal disc protrusion is presented.