Children with Down Syndrome Sharing Past Personal Event Narratives with Their Teacher Aides: A Pilot Study

Personal narrative ability is crucial for social–emotional well-being and classroom participation. This study investigated the ability of 10 school-age participants with Down syndrome to share past personal experiences with their teacher aides in their school environment. To participate, children were required to speak in short sentences and be largely intelligible to unfamiliar listeners. Personal narratives were elicited using photo prompts, comprising a set of the child’s own photographs and a standard set of photographs and accompanying verbal prompts, utilising a clinical language sampling protocol. Personal narratives were analysed on quality, syntactic complexity, verbal fluency and intelligibility. Examiner behaviour was evaluated for measures of syntactic complexity, mean turn length in utterances and number of utterances. Results indicated significant difficulties in producing quality personal narratives in both photo conditions. Examiner behaviour was negatively correlated to the participants’ spoken language performance. Clinical implications are highlighted.     

A new mutation （1062 del 16） of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome

Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS( ), HS( ), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.     

Relationship between resistin level in serum and acute coronary syndrome or stable angina pectoris

Objective To investigate the relationship between serum resistin level and acute coronary syndrome (ACS) or stable angina pectoris (SAP). Methods Sixty-five patients, with coronary artery disease, were enrolled and divided into three subgroupsacute myocardial infarction (AMI), unstable angina pectoris (UAP) and SAP, and 26 healthy people were recruited as controls in the cross-sectional study. Serum resistin levels were determined by ELISA (enzyme-linked immunosorbent assay), and WBC (white blood cell count), hsCRP (high sensitive C-reaction protein), CKmax (maximum ofcreatinkinase), CK-MBmax (maximum of isozyme of creatinkinase) and cTnImax (maximum oftroponin) were measured by standard laboratory methods. Results The serum resistin levels were 4 folds higher in AMI patients, 2.43 folds in UAP patients and 1.12 folds in SAP patients than in the healthy controls (P＜0.05). The resistin levels were also significantly different between AMI [(8.16±0.79) ng/ml], UAP [(5.59±0.75) ng/ml]and SAP [(3.45±0.56) ng/ml] groups (P＜0.01); WBC, hsCRP, CKmax, CK-MBmax and cTnImax were significantly increased in AMI patients over UAP and SAP patients. Spearman analysis showed that serum resistin levels were positively correlated with WBC (r=0.412, P=0.046), hsCRP (r=0.427, P=0.037), CKmax, CK-MBmax and cTnImax (r=0.731, 0.678, 0.656; P＜0.01). ConclusionSerum resistin levels increased with inflammatory factors and myocardial impairment. The results suggest that human resistin might play an important role in the pathogenesis of atherosclerosis and AMI as an inflammatory factor.     

茶与人体健康：茶叶活性组分的生物医学效应和当前关注的若干问题

饮茶有益于健康的观念在我国已沿传多个世纪,并在很大程度上为全世界所接受。本文简述了茶叶的药用历史以及从中国传播到世界各地的历史进程,重点对国内外关于饮茶预防癌症、代谢综合症、心血管疾病以及神经退行性疾病等人体重要疾病的最新研究成果进行了综述。在此基础上,针对当前在动物实验和人体流行病学调查结果上存在差异的原因,特别是对茶叶中儿茶素类化合物在人体组织中生物可利用度低的问题、高剂量绿茶提取物对人体可能存在毒性等安全性问题进行了讨论。此外,还介绍了近几年在提高儿茶素类化合物生物可利用度和对癌症的预防和治疗效果上的最新进展。     

Correlations of Insulin Resistance and Serum Testosterone Levels with LH:FSH Ratio and Oxidative Stress in Women with Functional Ovarian Hyperandrogenism

Functional ovarian hyperandrogenism (FOH) is a form of polycystic ovary syndrome (PCOS) characterized by elevated circulating levels of androgens derived from the ovary. Insulin resistance (IR) is the most common etiological factor in women with FOH. IR causes the generation of increased oxidative stress (OS) and diminished antioxidant status. OS is directly correlated with both IR and testosterone levels, which consequently contribute to endocrine and biochemical alterations in FOH women. In the current study, elevations in total testosterone, free testosterone and luteinizing hormone (LH) levels accompanied by a decrease in follicle stimulating hormone (FSH) level leading to higher LH:FSH ratio were the prominent endocrine changes observed in women with FOH. A significant increase in fasting blood levels of glucose and insulin, as well as an elevated IR were also seen in FOH women, as compared to their age matched controls. Women with FOH have higher pro-oxidant and lower anti-oxidant levels in blood than their age matched controls. In FOH women, elevations in LH:FSH ratio and OS are correlated more with hyperandrogenemia than with IR. Of the androgens, free rather than total testosterone has better positive correlations with elevated LH:FSH ratio and OS, and hence, the former is a better predictive marker for the development of biochemical PCOS in women with FOH.     

加味柴芍六君颗粒加减治疗腹泻型肠易激综合征80例临床疗效观察

目的:临床观察中药加味柴芍六君颗粒治疗腹泻型肠易激综合征(irritable bowel syndrome-diarrhea predomina nt,IBS-D)的临床疗效。方法:将80例IBS-D患者随机分为加味柴芍六君颗粒中药组和培菲康西药组,分别给予加味柴芍六君颗粒及口服培菲康治疗。疗程均为4周,疗程结束后随访3个月,观察疗效。结果:(1)治疗2、4周后、治疗结束后第1个月及第3个月随访时,结果两组的证候总积分改善明显优于治疗前,差异有统计学意义(p0.05);(2)治疗4周后,中药组总有效率为81.1%,西药组为70.4%,2组总体疗效差异无统计学意义(p=0.194);在单项症状方面排便次数和大便性状等改善情况中药组要优于西药,差异具有统计学意义(p0.05);(3)在第1、第3个月随访中药组证候积分改善优于西药组,差异具有统计学意义(p0.05)。结论:临床应用加味柴芍六君颗粒治疗IBS-D具有较好的临床疗效。     

Pure word deafness associated with extrapontine myelinolysis

Extrapontine myelinolysis and pure word deafness are very uncommon disorders. Here, we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness. As a consequence of rapid correction of hyponatremia, the patient demonstrated an initial onset of cortical deafness, and then progressed to generalized auditory agnosia, which eventually developed into confined verbal auditory agnosia (pure word deafness). Bilateral extrapontine myelinolysis was confirmed using brain magnetic resonance imaging. This case suggests that verbal and nonverbal stimuli may involve separate thalamocortical pathways.     

Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population

Introduction:

The enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) catalyzes the conversion of the hormonally inactive cortisone to active cortisol, thus facilitating glucocorticoid receptor activation in target tissues. Increased expression of 11β-HSD1 in adipose tissue has been associated with obesity and insulin resistance. In this study, we investigated the association of two 11β-HSD1 gene (HSD11B1) polymorphisms with the metabolic syndrome (MetS) and its characteristics in the Bosnian population.

Materials and methods:

The study included 86 participants: 43 patients diagnosed with MetS and 43 healthy controls. Subjects were genotyped for two HSD11B1 gene polymorphisms: rs846910: G>A and rs45487298: insA, by the high resolution melting curve analysis. Genotype distribution and an influence of genotypes on clinical and biochemical parameters were assessed.

Results:

There was no significant difference in the mutated allele frequencies for the two HSD11B1 gene polymorphisms between MetS patients and controls. In MetS patients, no significant associations between disease-associated traits and rs45487298: insA were found. Regarding rs846910: G>A variant, heterozygous patients (G/A) had significantly lower systolic (P = 0.017) and diastolic blood pressure (P = 0.015), lower HOMA-IR index (P = 0.011) and higher LDL-cholesterol levels (P = 0.049), compared to the wild-type homozygotes. In the control group, rs45487298: insA polymorphism was associated with lower fasting plasma insulin levels (P = 0.041), lower homeostasis model assessment insulin resistance (HOMA-IR) index (P = 0.041) and lower diastolic blood pressure (P = 0.048). Significant differences between rs846910: G>A genotypes in controls were not detected. Haplotype analysis confirmed the association of rs45487298: insA with markers of insulin resistance in the control subjects.

Conclusions:

Our results indicate that a common rs45487298: insA polymorphism in HSD11B1 gene may have a protective effect against insulin resistance.     

Lack of Circadian Pattern of Serum TNF-α and IL-6 in Patients with Fibromyalgia Syndrome

The present study was designed to test the hypothesis of a circadian variation in circulating levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in women with fibromyalgia syndrome (FMS). Serum levels of IL-6 and TNF-α were measured at 4 h intervals of the day in 50 women with FMS satisfying American College of Rheumatology criteria for FMS (age 36.68 ± 9.89) as well as 50 healthy control women (age 32.82 ± 10.53). Serum TNF-α levels were substantially increased in patients with FMS but showed no circadian variation. In contrast, no difference in the levels of IL-6 was found. Moreover, there was also no circadian variation in both the groups of patients and controls. We conclude that no circadian pattern exists in the circulating levels of serum IL-6 and TNF-α in patients with FMS, although TNF-α levels are found raised in patients with FMS.