The diagnostic dilemma of congenital unstable hemoglobinopathies

Unstable hemoglobin variants represent a rare etiology of congenital hemolytic anemia. Without a high index of suspicion, plus proper laboratory testing and interpretation, the correct diagnosis can be elusive. We report on five children who were initially thought to have other congenital disorders such as hereditary spherocytosis or thalassemia, before β‐globin gene sequencing led to the definitive diagnosis. Recognizing the variable clinical presentation and laboratory data reported will aid clinicians in diagnosis of unstable hemoglobins variants in children with atypical forms of hemolytic anemia, particularly those with low pulse oximetry values or whose hemoglobin electrophoresis suggest β‐thalassemia trait. Pediatr Blood Cancer. 2010;55:1393–1395. © 2010 Wiley‐Liss, Inc.     

早产儿瘦素质量浓度与早期静脉营养及生长发育相关性探讨

目的探讨瘦素质量浓度与早期静脉营养及生长发育的关系。方法新疆医科大学第一 附属医院新生儿科于2005 01—2006 02，将收治的86例早产适于胎龄儿用随机数字表法分为观察组(早期微量喂养同时辅助胃肠外营养组)45 例和对照组(单纯早期微量喂养组)47例，分别测定脐血及第7天血清瘦素质量浓度，同时监测营养状况和生长发育指标，并作对比分析。结果 (1)观察组与对照组脐血瘦素质量浓度分别为(4.6±3.7)ng/mL、(4.8±2.2)ng/mL，生后第7天两组瘦素质量浓度分别为(4.3±2.2)ng/mL、(3.1 ±1.7)ng/mL。对照组第7天血清瘦素质量浓度明显低于脐血(P<0.05)，而观察组其差异无统计学意义(P>0.05)。(2)脐血瘦素质量浓度与出生体 重、胎龄成正相关(r=0.56、r=0.67)。(3)观察组第7天热卡及蛋白质摄入量、血清瘦素质量浓度、皮褶厚度变化值与对照组相比，差异有统计 学意义(P<0.05)。结论对早产儿应尽早喂养，同时需要胃肠外营养作为肠内营养的补充。瘦素可作为新生儿营养效果判定的实验室指标之一。     

大孔树脂吸附法富集野菊花总黄酮的工艺研究

目的研究大孔树脂吸附法富集野菊花总黄酮的工艺条件及参数。方法以野菊花总黄酮为考察指标,考察大孔树脂富集野菊花总黄酮的最佳工艺条件。结果野菊花提取液(50mg生药/mL)5mL上大孔树脂柱(150mm×10mm),吸附30min后,先用100mL蒸馏水洗脱除去杂质,然后用70%乙醇100mL洗脱,洗脱速度为2mg/mL,洗脱剂用量为9倍量树脂,树脂可重复使用3次,采用此条件为最佳工艺。结论AB-8型大孔树脂在所确定的工艺条件下,可较好的吸附分离野菊花总黄酮。其70%乙醇洗脱物中总黄酮质量分数达4.34%以上,总黄酮收率为84.47%以上。采用此法可以较好的富集野菊花中的有效成分。     

The Effect of Body Mass Index on the Outcome of Critically Ill Surgical Patients

Background: The incidence of obesity is rising, and an increasing number of obese patients are admitted to surgical intensive care units (SICUs). However, it is not clear whether obesity is an independent risk factor for increased morbidity and mortality in SICU patients. We examined the effect of obesity on morbidity and mortality in patients admitted to the SICU in this study. Method: We reviewed prospectively acquired SICU data in normal and obese patients with an SICU length of stay >24 hours. Comparability of the groups was assessed using a χ² test or Fisher exact test, as appropriate, for categorical variables and analysis of variance (ANOVA) or the Kruskal‐Wallis test, as appropriate, for continuous variables. Results: Of the 1792 consecutive patients evaluated, 711 had a normal body mass index (BMI), and 993 were either preobese or obese. There was no statistically significant difference across the 5 BMI groups with respect to any of the 3 comorbidity indices (Acute Physiology and Chronic Health Evaluation III [APACHE III], Simplified Acute Physiology Score, or Multiple Organ Dysfunction Score). There was no statistically significant difference in the intensive care unit (ICU) length of stay and hospital length of stay or time‐to‐ICU mortality (log‐rank test P = .054) among the 5 BMI groups. A Cox regression analysis and backward elimination algorithm selected APACHE III to be the most important explanatory variable for survival time. Conclusion: Obesity does not affect the mortality of patients admitted to the SICU. We conclude that obesity cannot be used as an independent predictive mortality outcome variable in patients admitted to the SICU.     

Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab

The study aimed to investigate whether polymorphisms in genes of the EGFR signaling pathway are associated with clinical outcome in advanced colorectal cancer (CRC) patients treated with single-agent Cetuximab. Polymorphisms of interest in the EGFR pathway include: cyclin D1 (CCND1) A870G, cyclooxygenase 2 (Cox-2) G-765C, epidermal growth factor (EGF) A61G, epidermal growth factor receptor (EGFR) codon R497 K, EGFR CA dinucleotide repeat in intron 1, interleukin (IL)-8 T-251A and vascular endothelial growth factor (VEGF) C936 T gene polymorphisms. Thirty-nine metastatic CRC patients were enrolled in the IMCL-0144 trial and treated with single-agent Cetuximab. Using the polymerase chain reaction-restriction fragment length polymorphism method, gene polymorphisms of CCND1, COX-2, EGF, EGFR, IL-8 and VEGF were assessed from genomic DNA extracted from blood samples. A significant association was found between the CCND1 A870G polymorphism and overall survival in our 39 CRC subjects. Patients with the AA homozygous genotype survived for a median of 2.3 months [95% confidence interval (CI)=2.1-5.7], whereas those with any G allele (AG, GG genotype) survived for a median of 8.7 months (95% CI=4.4-13.5) (P=0.019, log-rank test). When we analysed the cyclin D1 and EGF polymorphisms together, patients with favourable genotypes (EGF any A allele and CCND1 any G allele) showed a median survival time of 12 months (95% CI=4.8-15.2), whereas patients with any two unfavourable genotypes (EGF GG or CCND1 AA) showed a median survived time of 4.4 months (95% CI=2.1-5.7) (P=0.004, log-rank test). The findings of this pilot study suggest that the cyclin D1 A870G and the EGF A61G polymorphisms may be useful molecular markers for predicting clinical outcome in CRC patients treated with single-agent Cetuximab.     

Effects of dopaminergic medications on psychosis and motor function in dementia with Lewy bodies

Dopaminergic treatment in dementia with Lewy bodies (DLB) requires balancing risk of worsened psychosis and potential motor benefit. We assessed the effects of increased dopaminergic medication on psychosis and motor function in DLB. We studied 19 subjects fulfilling probable DLB Consensus criteria before and after increased dopaminergic medications. Standard clinical measures included: Thought Disorder score from the Unified Parkinson's disease Rating Scale (UPDRS) Part I, total motor score (UPDRS Part III), and Hoehn–Yahr (H&Y) stage. Motor benefit defined as >10% improvement over baseline UPDRS Part III score, occurred in only one‐third of subjects. In this group, worsened hallucinations or psychosis developed in one‐third. Considering motor benefit without exacerbation of psychosis as our aim, only 4 DLB subjects (22%) achieved this goal. Our results suggest that dopaminergic medications have limited benefit in DLB because of the low likelihood of motor improvement and the risk of psychosis exacerbation. © 2008 Movement Disorder Society     

Association of <Emphasis Type="Italic">RGS4</Emphasis> variants with schizotypy and cognitive endophenotypes at the population level

Background  

While association studies on schizophrenia show conflicting results regarding the importance of the regulator of the G-protein signaling 4 (RGS4) gene, recent work suggests that RGS4 may impact on the structural and functional integrity of the prefrontal cortex. We aimed to study associations of common RGS4 variants with prefrontal dependent cognitive performance and schizotypy endophenotypes at the population level.