术中射频消融后病灶刮除治疗脊柱转移瘤

目的:探讨术中射频消融(RFA)后再行病灶刮除术治疗脊柱转移瘤的可行性及疗效.方法:2004年～2006年,对11例脊柱转移瘤患者术中实施RFA后再行病灶刮除术,将FRA前后病灶标本进行光镜和电镜病理检查,随访患者疼痛缓解情况及肿瘤复发情况.结果:术中未出现脊髓和神经根损伤,RFA后瘤组织固缩,刮除顺利,出血量350～3800ml,平均1024.5ml.全部病例得到6个月以上随访,平均9.8个月,全部患者生存期超过6个月,VAS评分术前平均5.8分,术后6个月时平均1.9分.1例出现局部肿瘤复发.RFA前的标本光、电镜检查均未见肿瘤组织坏死.RFA后光镜检查3例无明显坏死,9例肿瘤细胞完全坏死:电镜检查10例肿瘤细胞完全坏死,1例肿瘤细胞部分坏死,1例无明显坏死.结论:术中RFA后再行病灶刮除治疗脊柱转移瘤安全可行,有利于肿瘤的刮除,减少局部复发的风险.     

Nutrigenomics and Nutrigenetics in Metabolic- (Dysfunction) Associated Fatty Liver Disease: Novel Insights and Future Perspectives

Metabolic- (dysfunction) associated fatty liver disease (MAFLD) represents the predominant hepatopathy and one of the most important systemic, metabolic-related disorders all over the world associated with severe medical and socio-economic repercussions due to its growing prevalence, clinical course (steatohepatitis and/or hepatocellular-carcinoma), and related extra-hepatic comorbidities. To date, no specific medications for the treatment of this condition exist, and the most valid recommendation for patients remains lifestyle change. MAFLD has been associated with metabolic syndrome; its development and progression are widely influenced by the interplay between genetic, environmental, and nutritional factors. Nutrigenetics and nutrigenomics findings suggest nutrition’s capability, by acting on the individual genetic background and modifying the specific epigenetic expression as well, to influence patients’ clinical outcome. Besides, immunity response is emerging as pivotal in this multifactorial scenario, suggesting the interaction between diet, genetics, and immunity as another tangled network that needs to be explored. The present review describes the genetic background contribution to MAFLD onset and worsening, its possibility to be influenced by nutritional habits, and the interplay between nutrients and immunity as one of the most promising research fields of the future in this context.     

Plasma vitamin C levels in men and women from different ethnic backgrounds living in England.

BACKGROUND: People of South Asian origin living in the UK have higher death rates due to coronary heart disease than whites. The reasons for these differences are not fully understood. Previous attempts to relate diet to cardiovascular risk in South Asians have been inconclusive. METHODS: We compared the levels of plasma vitamin C in a cross-sectional population-based study of 1018 men and women aged 40-59 (455 men, 563 women, 328 South Asians, 355 of African descent, 335 whites) co-resident in a geographically defined area of South London, when allowing for potential confounders. RESULTS: Fasting plasma vitamin C levels were significantly higher in women, vegetarians, supplement takers and non-smokers. After adjustment for age, body mass index, current smoking, supplement use and vegetarianism the mean plasma vitamin C levels were 38.8 (SE 1.6) mumol/l in white men, 36.5 (1.6) mumol/l in men of African descent and 32.9 (1.5) mumol/l in South Asian men (P = 0.033 by analysis of co-variance). In women the adjusted mean plasma vitamin C levels were 52.4 (1.6) mumol/l in whites, 46.0 (1.4) mumol/l in women of African descent and 37.3 (1.8) mumol/l in South Asians (P < 0.0001 by analysis of covariance). South Asians had lower levels than whites in both men (difference 6.4 [95% CI: 1.5, 11.3] mumol/l) and women (16.8 [95% CI: 11.5, 22.1] mumol/l). South Asian women, but not men, also had lower levels than those of African descent (8.8 [95% CI: 4.5, 13.1] mumol/l). African women, but not men, had lower levels than white women (6.6 [95% CI: 2.3, 10.9] mumol/l). No significant differences were seen between Caribbeans and West Africans or between South Asian Hindus and Muslims. CONCLUSIONS: These data suggest that important dietary differences in vitamin C exist between different ethnic groups living in England. The larger differences in South Asians may contribute to their increased coronary risk.     

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders.     

Exponential decay for binary time‐varying covariates in Cox models

Cox models are commonly used in the analysis of time to event data. One advantage of Cox models is the ability to include time‐varying covariates, often a binary covariate that codes for the occurrence of an event that affects an individual subject. A common assumption in this case is that the effect of the event on the outcome of interest is constant and permanent for each subject. In this paper, we propose a modification to the Cox model to allow the influence of an event to exponentially decay over time. Methods for generating data using the inverse cumulative density function for the proposed model are developed. Likelihood ratio tests and AIC are investigated as methods for comparing the proposed model to the commonly used permanent exposure model. A simulation study is performed, and 3 different data sets are presented as examples.     

Estimation of fruit and vegetable intake using a two-item dietary questionnaire: a potential tool for primary health care workers

BACKGROUND AND AIM: High fruit and vegetable intake is associated with health benefits for cancer and cardiovascular disease. An increase is therefore integral in recommendations for the prevention of chronic disease. However, measuring intake requires either extensive dietary assessment or the measurement of specific bio-markers which is neither cheap nor feasible for the routine assessment of an individual's diet in a community or primary care setting. Within the context of a study evaluating a dietary counselling programme to increase fruit and vegetable intake our aim was to assess the use of a simple tool to estimate fruit and vegetable intake. METHODS AND RESULTS: We studied associations between bio-markers [plasma ascorbic acid, beta-carotene and alpha-tocopherol 24-hour urinary potassium excretion] and a two-item fruit and vegetable consumption questionnaire in 271 subjects (105 men and 166 women), aged 18 to 70 years. After controlling for age, sex, vitamin supplement use, smoking and body mass, those reporting a daily intake of > or = 5 portions of fruit and vegetables had higher potassium excretion (difference 15.6 [95% confidence interval: 6.2 to 25.0] mmol/24 h), urinary potassium/creatinine ratio (1.2 [0.5 to 2.0]) and plasma vitamin C (10.0 [-0.9 to 20.8] mumol/L) than those reporting < or = 2.5 portions per day. beta-carotene (p = 0.04), vitamin C (p = 0.01) and potassium excretion (p < 0.001) were associated with fruit rather than vegetable intake. The two-item questionnaire had high specificity; over 3/4 of participants who reported low intake also had bio-markers below the upper third of the distribution. CONCLUSION: Self report of fruit and vegetable intake through a simple questionnaire is confirmed by bio-markers for those eating less than five portions of fruit and vegetables a day. Although the tool is amenable to improvements for the detection of vegetable portions, it may prove useful for monitoring dietary preventive approaches in primary care without the use of invasive and costly biochemical measurements.     

Prevalence, detection, management, and control of hypertension in Ashanti, West Africa

Hypertension and stroke are important threats to the health of adults in sub-Saharan Africa. Nevertheless, detection of hypertension is haphazard and stroke prevention targets are currently unattainable. Prevalence, detection, management, and control of hypertension were assessed in 1013 men (n=385) and women (n=628), both aged 55 [SD 11] years, living in 12 villages in Ashanti, Ghana. Five hundred thirty two lived in semi-urban and 481 in rural villages. The participants underwent measurements of height, weight, and blood pressure (BP) and answered a detailed questionnaire. Hypertension was defined as BP > or =140 and/or > or =90 mm Hg or being on drug therapy. Women were heavier than men. Participants in semi-urban areas were heavier and had higher BP (129/76 [26/14] versus 121/72 [25/13] mm Hg; P<0.001 for both) than in rural areas. Prevalence of hypertension was 28.7% overall and comparable in men and women, but higher in semi-urban villages (32.9% [95% CI 28.9 to 37.1] versus 24.1% [20.4 to 28.2]), and increased with age. Detection rate was lower in men than women (13.9% versus 27.3%; P=0.007). Treatment and control rates were low in both groups (7.8% and 4.4% versus 13.6% and 1.7%). Detection, treatment, and control rates were higher in semi-urban (25.7%, 14.3%, and 3.4%) than in rural villages (16.4%, 6.9%, and 1.7%). Hypertension is common in adults in central Ghana, particularly in urban areas. Detection rates are suboptimal in both men and women, especially in rural areas. Adequate treatment of high BP is at a very low level. There is an urgent need for preventive strategies on hypertension control in Ghana.     

Circulating soluble E-selectin levels and the Ser 128Arg polymorphism in individuals from different ethnic groups

BACKGROUND AND AIM: An association between the Ser128 Arg polymorphism and coronary heart disease (CHD) has been previously demonstrated in a white population. The aim of this study was to investigate whether the Ser128 Arg polymorphism of the E-selectin gene is associated with soluble E-selectin levels in individuals from a multiethnic population. METHODS AND RESULTS: Plasma sE-selectin levels and the Ser128 Arg E-selectin gene polymorphism were determined in 244 white (109 females), 176 of African origin (90 females) and 208 South Asian (95 females) healthy individuals living in England selected from the Wandsworth Heart and Stroke Study (WHSS). The substitution of serine for arginine (A to C mutation) was more common in whites (9.6%) and South Asians (7.9%) compared to the people of African origin (3.7%); p=0.005. The C mutation had no effect on sE-selectin levels in any ethnic group. CONCLUSIONS: We found a lower frequency of this polymorphism in the people of African origin who have a low CHD risk. However, in this study the polymorphism was not associated with circulating sE-selectin levels. Whether it plays a role in determining ethnic differences in vascular disease via a mechanism affecting leukocyte recruitment remains to be determined.