Genetic alterations in childhood medulloblastoma analyzed by comparative genomic hybridization

Despite intensive therapy, the survival of children with medulloblastoma remains disappointing. Moreover, children who survive are affected by serious long-term sequelae of treatment that impair their quality of life. In search of chromosomal aberrations indicative of sites involved in oncogenic transformation and in an attempt to find reliable prognostic markers, the authors analyzed 15 medulloblastomas by comparative genomic hybridization. All neoplasms showed chromosomal abnormalities. The most frequent losses were 17p (7/15 tumors), 8p and 11p (6/15), 10p, 1lq, 16q, and 20q (5/15), and 20p (4/15). Gains were recurrently found at 7q (10/15 tumors), 17q and 18q (9/15 tumors), 7p and 13q (7/15), 18p (6/15), and 1q, 4q, 6q. and 9p (5/15 tumors). Four tumors showed loss of 17p together with gain of 17q, suggesting an isochromosome 17q. High-level amplifications were seen at 1p34, 5p15, 13q34, and 18p11 (one tumor each), and at 2p15 in two tumors, one of which was proven to be N-Myc amplification. The overall pattern of alterations found in this study confirms the findings of other studies and adds two novel regions with chromosomal gains, at 13q and 18q. Previous reports on the relation between 17q gain and survival could not be confirmed, whereas amplification of N-myc or L-myc seems to indicate poor clinical outcome.     

Exposure to relaxing words during sleep promotes slow-wave sleep and subjective sleep quality

Our thoughts alter our sleep, but the underlying mechanisms are still unknown. We propose that mental processes are active to a greater or lesser extent during sleep and that this degree of activation affects our sleep depth. We examined this notion by activating the concept of “relaxation” during sleep using relaxation-related words in 50 healthy participants. In support of our hypothesis, playing relaxing words during non-rapid eye movement sleep extended the time spent in slow-wave sleep, increased power in the slow-wave activity band after the word cue, and abolished an asymmetrical sleep depth during the word presentation period. In addition, participants reported a higher sleep quality and elevated subjective alertness. Our results support the notion that the activation of mental concepts during sleep can influence sleep depth. They provide a basis for interventions using targeted activations to promote sleep depth and sleep quality to foster well-being and health.     

上海市金山地区乙型肝炎病毒基因型分布及其与临床的关系

目的了解上海金山地区乙型肝炎病毒(HBV)感染者基因型分布及其与临床的关系。方法401例HBV DNA阳性患者采用聚合酶链反应(PCR)-酶联免疫吸附试验(ELISA)进行HBV DNA定量、微流基因芯片法进行基因分型、ELISA检测e抗原(HBeAg)及肝功能检查后进行综合分析。结果B型198例(49.38%),C型169例(42.14%),B/C混合型20例(4.99%),未分型14例(3.49%),未发现其他基因型。B型在慢性乙型重度肝炎(CSHB)患者中的比例显著低于无症状携带者(ASC)和慢性乙型轻、中度肝炎(CMHB)(P<0.01),而C型在CSHB患者中的比例显著高于ASC和CMHB(P<0.01)。ASC中B型患者的HBV DNA水平最低。C型患者的丙氨酸氨基转移酶(ALT)和γ-谷氨酰基转移酶(GGT)水平均高于B型。结论上海金山地区HBV感染者基因型以B型为主,C型次之,少量B/C混合型,C型与重肝病关系比B型密切。     

Can the Afinion HbA1c Point-of-Care instrument be an alternative method for the Tosoh G8 in the case of Hb-Tacoma?

Background: Hb-variant interference when reporting HbA1c has been an ongoing challenge since HbA1c was introduced to monitor patients with diabetes mellitus. Most Hb-variants show an abnormal chromatogram when cation-exchange HPLC is used for the determination of HbA1c. Unfortunately, the Tosoh G8 generates what appears to be normal chromatogram in the presence of Hb-Tacoma, yielding a falsely high HbA1c value. The primary aim of the study was to investigate if the Afinion HbA1c point-of-care (POC) instrument could be used as an alternative method for the Tosoh G8 when testing for HbA1c in the presence of Hb-Tacoma.

Methods: Whole blood samples were collected in K₂EDTA tubes from individuals homozygous for HbA (n?=?40) and heterozygous for Hb-Tacoma (n?=?20). Samples were then immediately analyzed with the Afinion POC instrument. After analysis, aliquots of each sample were frozen at ?80?°C. The frozen samples were shipped on dry ice to the European Reference Laboratory for Glycohemoglobin (ERL) and analyzed with three International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and National Glycohemoglobin Standardization Program (NGSP) Secondary Reference Measurement Procedures (SRMPs). The Premier Hb9210 was used as the reference method.

Results: When compared to the reference method, samples with Hb-Tacoma yielded mean relative differences of 31.8% on the Tosoh G8, 21.5% on the Roche Tina-quant Gen. 2 and 16.8% on the Afinion. Conclusions: The Afinion cannot be used as an alternative method for the Tosoh G8 when testing for HbA1c in the presence of Hb-Tacoma.     

Goal setting in palliative care: A structured review

Abstract

Background

Palliative care and rehabilitation both aim to support patients to live as actively as possible. Goal setting has been identified in health policy and clinical guidelines as a mechanism to achieve this. While goal setting is well established in traditional rehabilitation, it is unclear how it should be implemented within palliative care where people are faced with diminishing abilities.

Aim

To identify and synthesize published literature regarding goal setting in palliative care.

Method

Electronic searches were carried out on MEDLINE, PSYCHINFO, EMBASE, CINAHL, ASSIA, and Google Scholar databases between November 2010 and January 2011. Papers were included if they focused on patient-centred goal setting in palliative care. No restrictions were placed on study design or type of paper. Papers were classified according to the type and design and research papers were quality appraised. Papers were read and analysed using framework analysis.

Findings

Sixteen papers met the inclusion criteria. Three themes were identified: 1. Definitions, process, and functions of goal setting;

2. The challenges of delivering goal setting;

3. Theories underpinning goal setting.

Conclusions

Goal setting is recognized as an important component of patient-centred palliative care, but there is no agreement regarding ‘best practice’ and clinicians face particular challenges when trying to set goals with patients in this context. Little attention has been paid to developing a robust, theory-based approach to goal setting in this setting. Hope theory and theories of how people adapt to life-threatening illness could inform the process of goal setting in palliative care.