Seizure control in Unverricht‐Lundborg disease: a single‐centre study

New antiepileptic drug (AED) options for generalised seizure types have been adopted for use as treatment for Unverricht‐Lundborg disease. Whether this has led to improved seizure control or functional outcome in ULD patients remains obscure. We retrospectively identified all patients seen at Helsinki University Hospital due to Unverricht‐Lundborg disease during 2003–2008 in order to determine which AED treatments had been retained for long‐term use. The majority of the patients had severe functional disabilities. In the year preceding the last hospital visit, all patients (n=20) were receiving polytherapy and 14 patients had been free of tonic‐clonic seizures. During follow‐up, improvement in myoclonia had been recorded for the majority of patients with either add‐on piracetam, topiramate, or levetiracetam, but valproate was still in use by all patients. Treatment with lamotrigine had been started and retained less often relative to other AEDs. Add‐on AED treatment was often associated with significant adverse effects. Unverricht‐Lundborg disease patients may benefit from add‐on treatment with levetiracetam or topiramate for seizure control. Treatment of eventual comorbidities with other than AEDs is also discussed.     

KIinefeIter综合征的诊断：新型甲基化特异性实时定量PCR

本文研究目的为设计一种基于额外X染色体（X-ch）检测的分子检测方法用于Klinefelter综合征的诊断。从26名47，XXY男性，2名46，XY／47，XXY男性，22名46，XY男性和15名46，XX的女性的外周血标本中提取DNA，并进行脱氨基处理。甲基化特异性的定量多聚酶链反应（MS-qpPCR）以非甲基化和甲基化的X染色体非活化特异性转录基因（XIST-U和XIST-M）拷贝为模板。X染色体二倍体通过XIST基因甲基化状态来判定。46，XY／47，XXY男性的嵌合程度通过核型分析和原位荧光杂交（FISH）的结果比较来判定。数据分析应用Roche LightCycler software v．3．5.3，包括通过拟合点分析和溶解曲线分析决定交叉点（CPs）。所有对照组女性和Ks患者均检测到X染色体二倍体，而对照组男性只表达XIST-M。XIST-U和IXIST-M的交叉点范围分别是（29．5-32．5，SD0．8）和（29-31，SD0．6）。嵌合度的检测极限为1％。根据2名47，XXY/46，XY患者的XIST-U／）（IST-M比值分析，计算出的嵌合率（1．8％和17．8％）与FISH结果（2．3％和15％）相当。从DNA脱氨基到最终数据分析的间隔小于9小时。本文得出结论：MS-qpPCR是一种敏感、特异及快速的X染色体二体检测方法，可以用于KS的筛查和诊断，甚至在低嵌合水平的47，XXY／46，XY患者也适用。     

Flare Up Reaction During Provocation Test to Glatiramer Acetate in a Patient With Allergy to Interferon Beta1a

Glatiramer acetate (GA) is a synthetic amino acid polymer, used for relapsing-remitting multiple sclerosis. The most common adverse effect of GA is a skin reaction at the injection site with a probable IgE-mediated mechanism. We report a case of a 45-year-old woman with multiple sclerosis and urticaria to interferon-β1a, who underwent a challenge test to GA. She presented itching wheals at the intradermal sites. A month later the patient repeated the test and presented the same reactions of the first test. The next day she continued the test with subcutaneous injections. One hour later she presented a flare up of the reactions appeared during the previous 2 tests. No reactions appeared at the subcutaneous injection sites. The patient also presented dyspnea. Flare-up reactions are characterized by the reactivation of previously positive reactions to intradermal or skin tests triggered by patch testing and after systemic provocation with an allergen. The phenomenon is not common to drugs. The mechanisms involved in this reaction seem to be heterogeneous and are not completely understood. To our knowledge this is the first case of allergic reaction to GA manifested as a flare-up reaction during challenge test.     

Molecular analysis of Rv0679c and Rv0180c genes of Mycobacterium tuberculosis from clinical isolates of pulmonary tuberculosis

Context: Two novel proteins/genes Rv0679c and Rv0180c of Mycobacterium tuberculosis (MTB) H37Rv were classified as a hypothetical membrane and transmembrane proteins which might have a role in the invasion. Molecular analysis of these genes in human clinical isolates of pulmonary tuberculosis (PTB) patients was not well characterised. Aims: To assess the molecular diversity of Rv0679c and Rv0180c genes of MTB from clinical isolates of PTB patients. Settings and Design: DNA from 97 clinical isolates was extracted and subjected to amplification using selective primers by polymerase chain reaction (PCR). The PCR product obtained was sequenced commercially. Patients and Methods: Clinical isolates obtained from tuberculosis patients were investigated for polymorphisms in the Rv0679c and Rv0180c genes by PCR and DNA sequencing. Genomic DNA isolated by cetyltrimethylammonium bromide method was used for amplification of genes. Results: Rv0679c gene was highly conserved in 61 out of 65 clinical isolates assessed for sequence homology with wild-type H37Rv gene and was identical using ClustalW. Fifty-five out of 78 (70.5%) clinical isolates assessed for Rv0180c were positive for single nucleotide polymorphism (SNP) at 258^th position where the nucleotide G was replaced with T (G to T). In clinical isolates of untreated cases, the frequency was 54.5% for SNP at 258^th position which is low compared to cases undergoing treatment where the frequency was 73.1%. Conclusions: Molecular analysis of Rv0180c in clinical isolates of PTB assessed in this study was the first report, where an SNP at 258^th position G to T was identified within the gene. Rv0679c gene was highly conserved (94%), within Indian clinical isolates as compared to reports from other nations.     

Italian Chapter of the International Society of Cardiovascular Ultrasound expert consensus document on coronary computed tomography angiography: overview and new insights

Coronary computed tomography angiography is a noninvasive heart imaging test currently undergoing rapid development and advancement. The high resolution of the three‐dimensional pictures of the moving heart and great vessels is performed during a coronary computed tomography to identify coronary artery disease and classify patient risk for atherosclerotic cardiovascular disease. The technique provides useful information about the coronary tree and atherosclerotic plaques beyond simple luminal narrowing and plaque type defined by calcium content. This application will improve image‐guided prevention, medical therapy, and coronary interventions. The ability to interpret coronary computed tomography images is of utmost importance as we develop personalized medical care to enable therapeutic interventions stratified on the bases of plaque characteristics. This overview provides available data and expert's recommendations in the utilization of coronary computed tomography findings. We focus on the use of coronary computed tomography to detect coronary artery disease and stratify patients at risk, illustrating the implications of this test on patient management. We describe its diagnostic power in identifying patients at higher risk to develop acute coronary syndrome and its prognostic significance. Finally, we highlight the features of the vulnerable plaques imaged by coronary computed tomography angiography.