BACKGROUND & AIMS: :Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations in the muscle chloride channel gene, CLCN1. At least 50 different CLCN1 mutations have been described worldwide, but in many studies only about half of the patients showed mutations in CLCN1. Limitations in the mutation detection methods and genetic heterogeneity might be explanations. In the current study, we sequenced the entire CLCN1 gene in 15 Northern Norwegian and three Northern Swedish MC families. Our data show a high prevalence of myotonia congenita in Northern Norway similar to Northern Finland, but with a much higher degree of mutation heterogeneity. In total, eight different mutations and three polymorphisms (T87T, D718D, and P727L) were detected. Three mutations (F287S, A331T, and 2284+5C>T) were novel while the others (IVS1+3A>T, 979G>A, F413C, A531V, and R894X) have been reported previously. The mutations F413C, A531V, and R894X predominated in our patient material. Compound heterozygosity for A531V/R894X was the predominant genotype. In two probands, three mutations cosegregated with myotonia. No CLCN1 mutations were identified in two families. Our data support the presence of genetic heterogeneity and additional modifying factors in myotonia congenita.

背景与目标： ：先天性肌强直是一种非营养性肌肉疾病，会影响骨骼肌膜的兴奋性。它可以作为常染色体显性遗传（汤姆森氏肌强直）或常染色体隐性遗传（贝克尔氏肌强直）性状遗传。两种类型均以肌强直（肌肉僵硬）和肌肉肥大为特征，并且是由肌肉氯化物通道基因CLCN1的突变引起的。全世界至少描述了50种不同的CLCN1突变，但是在许多研究中，只有大约一半的患者显示了CLCN1的突变。突变检测方法和遗传异质性的局限性可能是解释。在当前的研究中，我们对15个挪威北部和3个瑞典北部MC家族的整个CLCN1基因进行了测序。我们的数据显示，与北部芬兰相似，挪威北部先天性肌强直症患病率很高，但突变异质性程度更高。总共检测到八个不同的突变和三个多态性（T87T，D718D和P727L）。先前已经报道了三个突变（F287S，A331T和2284 5C> T），而其他突变（IVS1 3A> T，979G> A，F413C，A531V和R894X）已经报道。 F413C，A531V和R894X突变在我们的患者资料中占主导地位。 A531V / R894X的复合杂合度是主要基因型。在两个先证者中，三个突变与肌强直共分离。在两个家族中均未发现CLCN1突变。我们的数据支持先天性肌强直症中遗传异质性和其他修饰因子的存在。

BACKGROUND & AIMS: :A precondition for reducing scientific misconduct is evidence about scientists' attitudes. We need reliable survey instruments, and this study investigates the reliability of Kalichman's "Survey 2: research misconduct" questionnaire. The study is a post hoc analysis of data from three surveys among biomedical doctoral students in Scandinavia (2010-2015). We perform reliability analysis, and exploratory and confirmatory factor analysis using a split-sample design as a partial validation. The results indicate that a reliable 13-item scale can be formed (Cronbach's α = .705), and factor analysis indicates that there are four reliable subscales each tapping a different construct: (a) general attitude to misconduct (α = .768), (b) attitude to personal misconduct (α = .784), (c) attitude to whistleblowing (α = .841), and (d) attitude to blameworthiness/punishment (α = .877). A full validation of the questionnaire requires further research. We, nevertheless, hope that the results will facilitate the increased use of the questionnaire in research.

背景与目标： ：减少科学不端行为的先决条件是有关科学家态度的证据。我们需要可靠的调查工具，并且本研究调查了Kalichman的“调查2：研究不端行为”问卷的可靠性。该研究是对来自斯堪的纳维亚半岛（2010-2015年）生物医学博士生的三项调查数据的事后分析。我们使用拆分样本设计作为部分验证，进行可靠性分析以及探索性和确认性因素分析。结果表明可以形成一个可靠的13个项目量表（Cronbach'sα= .705），因素分析表明存在四个可靠的子量表，每个量表都使用不同的结构：（a）对不当行为的一般态度（α= .768） ；（b）对个人不当行为的态度（α= .784），（c）对举报的态度（α= .841），以及（d）对不法行为/惩罚的态度（α= .877）。问卷的完整验证需要进一步的研究。但是，我们希望结果将促进调查表在研究中的更多使用。

BACKGROUND & AIMS: A case of juvenile acute cutaneous leishmaniasis is reported. Treatment with freezing with CO2 snow was beneficial in healing of cutaneous lesions and no relapses have occurred.

背景与目标： 据报道有一例青少年急性皮肤利什曼病。用CO2雪冷冻治疗有助于皮肤损伤的愈合，并且没有复发。

BACKGROUND & AIMS: BACKGROUND AND AIMS:Hospital malnutrition is prevalent, but nutritional practice in hospitals has a low priority. To improve the quality in nutritional routine, ESPEN has developed standards to improve the inadequate and insufficient nutritional treatments seen today. However, there is a discrepancy between the standards and clinical practice. This study was conducted to investigate nutritional practice in different hospital settings in relation to these standards (e.g.: screening of all patients, assessment of at-risk patients) among Scandinavian doctors and nurses. METHODS:A questionnaire about nutritional attitudes and routine was mailed to doctors and nurses in Denmark, Sweden and Norway. RESULTS:Altogether, 4512 (1753 doctors, 2759 nurses) answered the questionnaire. Both screening and assessment of at-risk patients differ between the countries. Nutritional screening was more common in Denmark (40%), compared to Sweden (21%) and Norway (16%). Measuring dietary intake in nutritional at-risk patients was more common in Denmark (46%), compared to Sweden (37%) and Norway (22%). However, all countries agreed that nutritional screening (92%, 88%, 88%) and measuring dietary intake (97%, 95%, 97%) were important, Denmark, Sweden and Norway, respectively. CONCLUSION:There is a large discrepancy between nutritional attitudes and practice. The standards suggested from the ESPEN are not fulfilled.

背景与目标： 背景与目的：医院营养不良很普遍，但医院的营养实践却没有得到重视。为了提高营养常规的质量，ESPEN已制定标准以改善当今所见的营养治疗不足和不足。但是，标准与临床实践之间存在差异。进行这项研究的目的是在斯堪的纳维亚的医生和护士中根据这些标准调查不同医院环境中的营养实践（例如：对所有患者进行筛查，对有风险的患者进行评估）。
方法：向丹麦，瑞典和挪威的医生和护士邮寄有关营养态度和常规的问卷。
结果：总共有4512名医生（1753名医生，2759名护士）回答了问卷。各国之间对高危患者的筛查和评估都不同。与瑞典（21％）和挪威（16％）相比，营养筛查在丹麦（40％）更为普遍。与丹麦（37％）和挪威（22％）相比，丹麦（46％）的营养高危患者饮食摄入量测量更为普遍。但是，丹麦，瑞典和挪威分别认为营养筛查（92％，88％，88％）和饮食摄入量（97％，95％，97％）很重要。
结论：营养态度与实践之间存在很大差异。 ESPEN提出的标准未得到满足。

BACKGROUND & AIMS: :Diseases and injuries affecting the locomotor system take a large toll among old and young, and due to changing life style and demographics, the impact will increase in years to come. The Decade of bone and joint 2000-2010 is an umbrella initiative to professionals from different specialities, patient organisations, health industry and not least, governments, to mobilise an offensive against the problems. We need to increase awareness among the public, assess the magnitude of problems, identify effective preventive measures and stimulate research. The decade will be launched in the spring of 2000. We should all help to fill it with meaningful activities.

背景与目标： ：影响运动系统的疾病和伤害在老年人和年轻人中造成巨大损失，并且由于生活方式和人口统计数据的变化，这种影响将在未来几年内增加。 2000-2010年“骨骼与关节十年”是一项伞式倡议，旨在吸引来自不同专业，患者组织，卫生行业，尤其​​是政府的专业人员动员起来应对这些问题。我们需要提高公众的认识，评估问题的严重性，确定有效的预防措施并促进研究。十年将在2000年春季启动。我们所有人都应帮助开展有意义的活动。

BACKGROUND & AIMS: :In all Scandinavian countries, most invasive Haemophilus influenzae type b (Hib) infections occur before the age of 5 years. The age-specific incidence of Hib meningitis in this age group is 26-35/100,000 per year in Denmark, Norway, Finland and Sweden and about 43/100,000 per year in Iceland. Of the meningitis patients, approximately 60% are younger than 2 years but Hib meningitis also occurs in older children and adults. The case fatality rate is low (1-3%) in children but the rate of neurological sequelae is considerable. The incidence of acute epiglottitis, the other main manifestation of Hib disease, varies considerably. In Sweden, four studies have shown a very high incidence in the age group 0-4 years, 21-34 cases/100,000 population per year compared to only 5-17 in the other Nordic countries. Epiglottitis is more common than Hib meningitis in older children and adults. In Scandinavia the age-specific incidence of all invasive Hib infections could be estimated to be about 50-65/100,000 per year in the most susceptible age group and the risk of contracting invasive Hib disease before the age of 15 years would be about 1/200-300 children.

背景与目标： 在所有斯堪的纳维亚国家，大多数侵入性b型流感嗜血杆菌（Hib）感染都发生在5岁之前。在丹麦，挪威，芬兰和瑞典，此年龄段的Hib脑膜炎的年龄特定发病率每年为26-35 / 100,000，在冰岛为每年43 / 100,000。在脑膜炎患者中，大约60％的年龄不到2岁，但是Hib脑膜炎也发生在年龄较大的儿童和成人中。儿童的病死率很低（1-3％），但神经系统后遗症的发生率却很高。 Hib疾病的另一主要表现是急性会厌炎的发病率差异很大。在瑞典，四项研究表明0-4岁年龄段的发病率非常高，每年21-34例/ 100,000人口，而其他北欧国家只有5-17岁。在大一点的儿童和成年人中，会厌炎比Hib脑膜炎更为常见。在斯堪的纳维亚半岛，在最易感人群中，所有侵入性Hib感染的特定年龄段发病率估计为每年约50-65 / 100,000，在15岁之前患侵入性Hib疾病的风险约为1 /。 200-300名儿童。

BACKGROUND & AIMS: :The purpose of this article is to look for possible traces of uroscopy in Scandinavia. The manuscripts and early editions on this subject limit the period of uroscopy in Scandinavia to 1450-1600, perhaps even beginning as late as 1557. In the first hundred years of this period, the most important texts were bought by students in foreign countries and taken home to their libraries, but it is doubtful that they were used. This impression is reinforced when we look at the first print in Danish of a medical text. Book printing began in Denmark in 1482, and this text by Christiern Pedersen is from 1533. It deals with herbs and thus continues a rich tradition for herbal medicine in Denmark, but uroscopy is not mentioned. The next editor of medical texts published 7 books in Danish from 1536 to 1557. The last one (1557) is on uroscopy, and in the preface the author, a practising physician, recommends knowledge of uroscopy as useful for his fellow citizens. His source is Lorenz Fries who originally did not want his edition in German to get into the hands of lay people - only less-learned colleagues. The Danish translator gives the impression that uroscopy is something entirely new in Denmark. In 1596 another medical textbook including uroscopy appeared. This is a translation of Ortolff von Bayrlandt's Arzneibuch by a Danish surgeon. It was intended for surgeons and was only reprinted twice. The medical books from the 17th century do not include traditional uroscopy.

背景与目标： ：本文的目的是寻找斯堪的纳维亚半岛的尿路镜检痕迹。有关该主题的手稿和早期版本将斯堪的纳维亚半岛的泌尿科检查时间限制在1450-1600年，甚至可能始于1557年。在此期间的前一百年中，最重要的教科书是外国学生购买的，他们的图书馆的所在地，但人们怀疑它们是否被使用过。当我们看丹麦语医学文本的第一版时，这种印象得到了加强。书籍印刷始于1482年的丹麦，克里斯蒂安·佩德森（Christiern Pedersen）撰写的这本书是1533年写的。它涉及草药，因此在丹麦延续了草药的丰富传统，但未提及泌尿科。下一位医学著作的编辑在1536年至1557年之间用丹麦语出版了7本书。最后一本（1557）是关于输尿管镜检查的。在序言中，作者（一位执业医师）建议了解输尿管镜检查对他的同胞有用。他的消息来源是洛伦兹·弗里斯（Lorenz Fries），他原本不希望他的德语版本进入外行人的手中，而只是学识渊博的同事。丹麦翻译给人的印象是，尿路镜检查在丹麦是全新的东西。 1596年，另一本包括尿镜的医学教科书出现了。这是丹麦外科医师Ortolff von Bayrlandt的Arzneibuch的翻译。它是为外科医生准备的，仅重印了两次。 17世纪的医学书籍不包括传统的尿道镜检查。

BACKGROUND & AIMS: BACKGROUND:The global financial crisis emerging in 2008 struck Greece especially hard, whereas Scandinavian countries were less affected. This has created a unique opportunity to study the long-term effect of community stress on populations. Increasing frequencies of mental health issues and poorer perceived health among the Greek population have been reported. The physiological marker of long-term stress, cortisol in hair, is applied in this study together with measures of perceived health and stress, depression and anxiety. Our aim was to study self-reported and physiological stress, perceived health, including mental health, in the general population of Greece compared to Scandinavia, in order to assess long-term effects of the economic crisis on these parameters. METHODS:A cross-sectional comparative study of adult (18-65 years) Primary Health Care visitors from semi-rural areas in Greece (n = 84) and Scandinavia (n = 140). Data collection was performed in 2012, and encompassed a questionnaire with a variety of health and stress indicators as well as hair samples for analyzes of cortisol levels. RESULTS:The Greek sample reported significantly poorer overall health (p < 0.0001) than the Scandinavians and a significantly higher perceived stress (p < 0.0001). The Greeks were also less hopeful of the future (p < 0.0001), and to a larger extent fulfilled the HAD criteria for depression (p < 0.0001) and anxiety (p = 0.002). The strongest predictors explaining ill health in logistic regressions were being Greek (p = 0.001) and feeling hopeless about the future p = 0.001, OR = 6.00 (CI 2.10-14.88). Strong predictors in logistic regressions for high perceived stress were anxiety: high (p < 0.0001) and medium (p = 0.0001), as well as medium depression (p = 0.02). CONCLUSIONS:Greek adult Primary Health Care visitors perceived their health more negatively than the Scandinavians, including a higher presence of depression, anxiety, and a lower hope for the future. The Greeks also reported higher perceived stress, but this was not reflected in higher cortisol levels. The findings presented here, identify possible adverse long-term effects of the economic crisis in the examined Greek population that are not seen in the Scandinavian cohort. These differences may also be interpreted against the background of socio-cultural differences in the northern and south-eastern corners of Europe.

背景与目标： 背景：2008年爆发的全球金融危机对希腊的打击尤其严重，而斯堪的纳维亚国家受到的影响较小。这为研究社区压力对人口的长期影响创造了独特的机会。据报道，希腊人口中精神健康问题的发生率越来越高，而人们所感知的健康状况也较差。这项长期压力的生理指标，即头发中的皮质醇，与感知健康和压力，抑郁和焦虑的测量方法一起用于这项研究。我们的目的是研究与斯堪的纳维亚半岛相比，希腊普通民众的自我报告和生理压力，包括精神健康在内的感知健康，以便评估经济危机对这些参数的长期影响。
方法：来自希腊（n = 84）和斯堪的纳维亚（n = 140）半农村地区的成年人（18-65岁）初级卫生保健访问者的横断面比较研究。数据收集于2012年进行，其中包括问卷调查表，其中包含各种健康和压力指标以及用于分析皮质醇水平的头发样本。
结果：希腊样本报告的总体健康状况显着低于斯堪的纳维亚人（p <0.0001），感知压力显着更高（p <0.0001）。希腊人对未来的希望也较小（p <0.0001），并在很大程度上满足了HAD抑郁（p <0.0001）和焦虑（p = 0.002）的标准。在逻辑回归中解释健康不良的最强预测因子是希腊语（p = 0.001），对未来的p = 0.001，OR，= 6.00（CI 2.10-14.88）感到绝望。高感知压力的逻辑回归的强烈预测指标是焦虑：高（p <0.0001）和中度（p = 0.0001）以及中度抑郁（p = 0.02）。
结论：希腊成人初级卫生保健访问者比斯堪的纳维亚人对健康的看法更负面，包括抑郁症，焦虑症的患病率更高，对未来的希望更低。希腊人还报告了较高的感知压力，但这并未反映在皮质醇水平较高的情况下。此处提出的发现确定了受调查的希腊人口中经济危机可能造成的长期不利影响，这在斯堪的纳维亚人队列中未见。这些差异也可以在欧洲北部和东南部角落的社会文化差异的背景下加以解释。