Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation

ObjectiveIn patients with spinocerebellar ataxia type 1 or 2 (SCA1 or SCA2) and in their asymptomatic gene-positive relatives (AsyRs) we investigated the event-related desynchronization and synchronisation (ERD/ERS) on magnetoencephalographic signals to assess the changes occurring before manifest ataxia, by comparing the results obtained in AsyRs and in their gene-negative healthy relatives (HRs).MethodsTwenty-four patients (12 SCA1, 12 SCA2), 24 AsyRs (13 SCA1, 11 SCA2) and 17 HRs performed a visually cued Go/No-go task. We evaluated the ERD/ERS in regions of interest corresponding to the frontal, central and parietal cortices.ResultsIn the SCA patients the main findings were a loss of side predominance for alpha and beta ERD and significantly weakened beta ERS. In AsyRs the main finding was a significantly enhanced alpha ERD, namely in those who were approaching the estimated time of symptom onset.ConclusionsIn ataxic patients, the loss of ERD lateralisation and the significantly reduction of beta ERS suggest defective bilateral processes that are involved in ending the movement. In AsyRs, enhanced alpha ERD proposes the presence of preclinical marker closely preceding symptom onset.SignificanceMovement-related ERD/ERS can detect the defective sensorimotor integration in ataxic patients, and reveals possible compensatory mechanisms in their AsyRs.     

Do Subjective Norms Predict the Screening of Cancer Patients’ First-Degree Relatives? A Systematic Review and Meta-Analysis

Background: Early detection and preventive measures can reduce the risk of cancer among first degree relatives (FDRs) of cancer patients.Several studies investigated the effect of subjective norm in relation to FDRs’ tendency to conduct preventive behaviors. Therefore, the purpose of this study was to systematically evaluate the effect of subjective norms on cancer patients’ FDRs as well as their willingness for screening. Methods: PubMed and Scopus were studied to investigate the effect of subjective norms on preventive measures such as breast cancer self-examination, colonoscopy, PSA testing, skin examination, and genetic testing. Odds Ratio (OR), correlation was and confidence intervals were extracted for meta-analysis. After reviewing the studies, only 16 studies met the criteria to be included in this systematic review. Results: The meta- analysis and OR showed that Physician Recommendation (OR=6.98, 95% CI; 2.55–19.09, P<0.001), Health Care Provider (HCP) (OR=2.79, 95% CI; 1.26-6.16; P=0.011), family and friends (OR=1.82, 95% CI; 1.33–2.50, P <0.001) significantly enhanced the likelihood of referring for screening and preventive measures. Conclusions: The results of the current study indicated that subjective norms can significantly increase willingness to screening.     

Gut microbiota composition in patients with newly diagnosed bipolar disorder and their unaffected first-degree relatives

ObjectiveAn aberrant gut microbiota may be associated with a broad spectrum of diseases including mental illness. The gut microbiota is scarcely studied in bipolar disorder (BD). We examined the gut microbiota composition in patients with newly diagnosed BD, their unaffected first-degree relatives and healthy individuals.MethodsStool samples were collected from 113 patients with BD, 39 unaffected first-degree relatives and 77 healthy individuals and the microbiota was profiled using 16S rRNA gene amplicon sequencing.ResultsThe gut microbiota community membership of patients with BD differed from that of healthy individuals (R² = 1.0%, P = 0.008), whereas the community membership of unaffected first-degree relatives did not. Flavonifractor was present in 61% of patients with BD, 42% of their unaffected relatives and 39% of healthy individuals. Presence of Flavonifractor was associated with an odds ratio of 2.9 (95%CI: 1.6–5.2, P = 5.8 × 10⁻⁴, Q = 0.036) for having BD. When excluding smokers, presence of Flavonifractor was associated with an odds ratio of 2.3 (95%CI: 1.1–5.3, P = 0.019) for having BD. However, when considering the subsample of non-smokers only, BD and presence of Flavonifractor were no longer associated when adjusted for all possible tests at genus level (Q = 0.6). Presence of Flavonifractor in patients with BD was associated with smoking and female sex, but not with age, waist circumference, exercise level, high-sensitive C-reactive protein, current affective state, subtype of BD, illness duration or psychotropic medication, respectively.ConclusionFlavonifractor, a bacterial genus that may induce oxidative stress and inflammation in its host, was associated with BD. Higher prevalence of smoking among patients with BD contributed to our findings, and it cannot be excluded that findings are influenced by residual confounding.     

基于红外光谱法的云南重楼及其近缘种的亲缘关系研究

目的傅里叶变换红外光谱(fourier transform infrared spectroscopy,FTIR)结合化学计量学方法分析云南重楼Paris polyphylla var.yunnanensis及其近缘种的亲缘关系,为重楼属药用植物资源的开发利用提供理论依据。方法采集云南重楼、白花重楼Paris polyphylla var.alba、毛重楼Paris mairei、南重楼Paris vietnamensis、五指莲Paris axialis var.axialis共50份样品的红外光谱信息,对光谱数据进行自动基线校正、自动平滑、纵坐标归一化、多元散射校正、二阶求导等预处理,采用主成分分析(principal component analysis,PCA)、偏最小二乘判别分析(partial least squares discriminant analysis,PLS-DA)及系统聚类分析(hierarchical cluster analysis,HCA)分析光谱数据。结果原始红外光谱中,1 653、1 156、1 082、1 021、925、851、759、572、524 cm~(-1)等为重楼属植物的共有峰,主要归属为黄酮、淀粉和糖苷类成分的吸收峰;毛重楼和五指莲分别在1 535和1 369 cm~(-1)附近有特征吸收峰,可与另外3种重楼属植物相区分。以全波段光谱数据进行PLS-DA和PCA,PLS-DA对重楼属植物分类效果优于PCA,能够准确区分5种野生重楼属植物。系统聚类分析(HCA)及向量夹角余弦相关性分析能够反映5个重楼属植物的亲缘关系,云南重楼与白花重楼和南重楼的亲缘关系较近,与毛重楼和五指莲的关系较远。结论 FTIR结合化学计量学方法,能够快速区分不同种类重楼属植物,明确云南重楼及其近缘种之间的亲缘关系,为重楼属植物亲缘关系研究提供一种快速、有效的方法,同时为重楼种质资源开发和利用提供理论基础。     

Haploidentical Bone Marrow Transplantation with Post-Transplant Cyclophosphamide Using Non–First-Degree Related Donors

Outcomes of nonmyeloablative (NMA) haploidentical (haplo) blood or marrow transplant (BMT) with post-transplantation cyclophosphamide (PTCy) using non–first-degree relatives are unknown. We evaluated 33 consecutive adult patients (median age, 56 years) with hematologic malignancies who underwent NMA haplo T cell–replete BMT with PTCy at Johns Hopkins using second- or third-degree related donors. Donors consisted of 10 nieces (30%), 9 nephews (27%), 7 first cousins (21%), 5 grandchildren (15%), and 2 uncles (6%). Thirty-one patients (94%) reached full donor chimerism by day 60. The estimated cumulative incidence (CuI) of grades II to IV acute graft-versus-host disease (aGVHD) at day 180 was 24% (90% confidence interval [CI], 9% to 38%). Only 1 patient experienced grades III to IV aGVHD. At 1 year the CuI of chronic GVHD was 10% (90% CI, 0% to 21%). The CuI of nonrelapse mortality at 1 year was 5% (90% CI, 0% to 14%). At 1 year the probability of relapse was 31% (90% CI, 12% to 49%), progression-free survival 64% (90% CI, 48% to 86%), and overall survival 95% (90% CI, 87% to 100%). The 1-year probability of GVHD-free, relapse-free survival was 57% (90% CI, 41% to 79%). NMA haplo BMT with PTCy from non–first-degree relatives is an acceptably safe and effective alternative donor platform, with results similar to those seen with first-degree relatives.     

The meaning of being a middle-aged close relative of a person who has suffered a stroke, 1 month after discharge from a rehabilitation clinic

The sudden and unexpected impact of stroke may have a stressful affect on close relatives. To illuminate the essential meaning in the lived experience of a middle-aged close relative of a person who has suffered a stroke, narrative interviews were conducted with 10 close relatives of people who had suffered their first stroke where both parties were aged over 18 and under 65. A phenomenological-hermeneutic interpretation of the narratives was then conducted. Three intimately intertwined themes emerged during the analysis: 'being called to mission', 'feeling lost and set adrift' and 'struggling to keep going'. The middle-aged close relatives felt unreflectively duty bound. There was a struggle with suffering and enduring the process of coping with life and overcoming a feeling of helplessness. Life turned out to be a struggle with overwhelming feelings. They felt alienated in a restricted life situation, disconnected from themselves and others, and from a world that supports feelings of being lost and set adrift (i.e. feeling homeless). Strength was found in moments when the situation improved, in being related to oneself and others, and when feelings of normality were regained.     

Staff perceptions of residents across the long-term care landscape

AIMS: This paper reports a study to determine how facility-, resident-, family- and staff-level indicators are empirically associated with staff members' perceptions of residents in nursing homes (NHs), assisted living facilities (ASLs) and family care homes (FCHs). BACKGROUND: While various efforts have described the ramifications of staff-resident interactions in nursing homes (NHs), few studies identify the factors that potentially influence staff members' perceptions of residents in multiple long-term care settings. METHODS: The participants were 41 care staff located in five NHs, five ASLs, and 16 FCHs randomly selected in Kentucky, United States of America. Face-to-face and telephone interviews were conducted with care staff, residents in their care, family members of residents, and administrators of participating facilities. Telephone interviews measured staff perceptions of residents on two domains: cohesion (perceived feelings of closeness between staff and residents) and knowledge of residents' personal lives and care needs. RESULTS: Regression models found that staff who were married, reported more positive attitudes towards family members, and worked in smaller facilities reported greater staff-resident cohesion. In addition, staff who cared for a higher percentage of residents with learning difficulties indicated greater knowledge of residents. CONCLUSION: The findings emphasize the need to consider elements of staff-family relationships when considering staff perceptions of residents. They also imply that clinical interventions designed to enhance social relationships in NHs can be extended across the long-term care landscape to influence the staff-resident-family triad positively.     

Prevalence and risk factors of chronic kidney disease in first-degree relatives of chronic kidney disease patients in Southern China

Aim: The aim of this study was to estimate the prevalence and risk factors of chronic kidney disease (CKD) in first‐degree relatives (FDRs) of CKD patients. Methods: A cross‐section study of first‐degree relatives of CKD patients was conducted between November 2007 and March 2009 in southern China. A total of 1187 first‐degree relatives (494 male and 693 female; mean age 41.26 years) of 419 CKD patients (194 male and 225 female; mean age 32.10 years) were reviewed and tested for haematuria, albuminuria and reduced glomerular filtration rate. CKD risk factors, including age, gender, body mass index, hypertension and the causes of index case were also investigated. CKD was diagnosed according to the criteria of the National Kidney Foundation‐Kidney Disease Outcomes Quality Initiative. Results: The prevalence of CKD in first‐degree relatives of CKD patients was 29.7% (95% confidence interval [CI]: 27.1%–32.2%). After adjusting for all the potential confounders, older age, female gender, hypertension, hyperglycaemia, hyperuricaemia, hypertriglyceridemic, low level of high density lipoproteins, increased body mass index and nephrotoxic medications were independently associated with increased risk of CKD. Furthermore, relatives of index cases with chronic glomerulonephritis were at higher risk haematuria (ORs = 2.12, 95% CI: 1.45–3.10) compared with relatives of index cases with other kinds of renal diseases. Conclusion: The first‐degree relatives of CKD patients are at high risk of CKD, especially those relatives of CKD patients with chronic glomerulonephritis. Screening in this high risk population might help to identify early CKD patients and make a proper intervention strategy to prevent the disease from quick progression.