Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance

Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal consequences for normal mRNA splicing. Intronic variants located far from obvious regulatory sequences can be more difficult to evaluate. There is a potential for misinterpretation of such sequence variants. Hence, thorough evaluation of patient data together with critical use of databases and in silico prediction tools are important. Here, we describe two rare sequence variants in the second intron of the β-globin gene, HBB: c.316-70C>G and HBB: c.316-125A>G (NM_000518.4), both previously reported as variants causing β-thal, and later as benign sequence variants. Due to the limited number of published cases and inconsistent interpretations, the significance of these sequence variants has been unclear. We have identified these two sequence variants in multiple individuals, alone and in a variety of combinations with other δ- and β-globin defects, and we find no influence of the sequence variants on the phenotype.     

Iron deficiency in preschool children with autistic spectrum disorders

Iron deficiency (ID) cause negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present study, the frequency of ID and the association between ID and autistic symptoms, developmental level, and behavioral problems in preschool children attending a clinic for ASD (N = 31) were evaluated. No association was observed between ID and the severity of autistic symptoms, developmental level and behavioral problems. ID was detected in 32.3% (N = 10) of the children based on serum ferritin level. In this study, the negative impact of low serum ferritin in ASD has not been confirmed. On the other hand, the rate of ID was considerably high in this sample of children with ASD compared to normative data of preschool children. Further studies with larger samples are needed to clarify the relationship between ID and clinical variables associated with ASD.     

Intake of whole apples or clear apple juice has contrasting effects on plasma lipids in healthy volunteers

Purpose

Fruit consumption is associated with a decreased risk of CVD in cohort studies and is therefore endorsed by health authorities as part of the ‘5 or more a day’ campaigns. A glass of fruit juice is generally counted as one serving. Fruit may cause protection by affecting common risk factors of CVD.

Methods

Apples are among the most commonly consumed fruits and were chosen for a comprehensive 5 × 4 weeks dietary crossover study to assess the effects of whole apples (550 g/day), apple pomace (22 g/day), clear and cloudy apple juices (500 ml/day), or no supplement on lipoproteins and blood pressure in a group of 23 healthy volunteers.

Results

The intervention significantly affected serum total and LDL-cholesterol. Trends towards a lower serum LDL-concentration were observed after whole apple (6.7 %), pomace (7.9 %) and cloudy juice (2.2 %) intake. On the other hand, LDL-cholesterol concentrations increased by 6.9 % with clear juice compared to whole apples and pomace. There was no effect on HDL-cholesterol, TAG, weight, waist-to-hip ratio, blood pressure, inflammation (hs-CRP), composition of the gut microbiota or markers of glucose metabolism (insulin, IGF1 and IGFBP3).

Conclusions

Apples are rich in polyphenols and pectin, two potentially bioactive constituents; however, these constituents segregate differently during processing into juice products and clear juice is free of pectin and other cell wall components. We conclude that the fibre component is necessary for the cholesterol-lowering effect of apples in healthy humans and that clear apple juice may not be a suitable surrogate for the whole fruit in nutritional recommendations.

     

Stability and Predictive Validity of the Brief Multidimensional Students’ Life Satisfaction Scale

The Brief Multidimensional Students’ Life Satisfaction Scale (BMSLSS) was developed in response to an increasing interest in the assessment, monitoring, and promotion of positive child and youth well-being. This study further examined the psychometric support for the brief instrument by evaluating its demographic relationships, internal consistency reliability and one-year test-retest reliability, and predictive validity in a sample of 284 secondary school students in the USA who were administered the BMSLSS and criterion measures on two occasions, one year apart. Consistent with predictions, the results indicated acceptable internal consistency, moderate one-year stability coefficient, and moderate, but robust cross-sectional and longitudinal correlations with multiple indices of student engagement in their schooling. The results provide further support for the psychometric properties of the BMLSS.     

Preoperative lung function in newborn infants with univentricular hearts compared with healthy controls

AIM: To measure the difference in lung function between newborns with univentricular hearts and healthy controls and study associations between lung function and pulmonary blood flow and pulmonary vasculature markings. METHOD: Tidal flow-volume measurements and single occlusion tests were performed before surgery on 25 unsedated spontaneously breathing newborns with univentricular hearts recruited over a 3-year period. Seventy-five healthy control infants were measured. Pulmonary blood flow was graded according to the haemodynamic effect of the echocardiographically defined anatomy of the heart defect. Pulmonary vasculature was graded according to radiological markings. RESULTS: The infants with univentricular hearts had a lower mean tidal volume of 4.7 ml (CI 2.3, 7.2, p < 0.001) (n = 24) and a lower mean compliance of the respiratory system of 12.7 ml/kPa (CI 4.6, 20.8, p = 0.004) (n = 14). Pulmonary blood flow grading was associated with respiratory rate (r = 0.53, p < 0.001), tidal volume (r =-0.48, p < 0.001), compliance (r =-0.55, p < 0.001) and resistance (r =-0.31, p = 0.043). Pulmonary vasculature grading was associated with compliance (r =-0.68, p = 0.006), resistance (r =-0.69, p = 0.007) and the time constant (r =-0.62, p = 0.042). CONCLUSION: Newborns with univentricular hearts have reduced tidal volumes and reduced compliance of the respiratory system. The lung function abnormalities are associated with the degree of pulmonary blood flow and pulmonary vasculature markings.     

Socially assistive robots in health and social care: Acceptance and cultural factors. Results from an exploratory international online survey

Aim

This study explored the views of an international sample of registered nurses and midwives working in health and social care concerning socially assistive robots (SARs), and the relationship between dimensions of culture and rejection of the idea that SARs had benefits in these settings.

Methods

An online survey was used to obtain rankings of (among other topics) the extent to which SARs have benefits for health and social care. It also asked for free text responses regarding any concerns about SARs.

Results

Most respondents were overwhelmingly positive about SARs' benefits. A small minority strongly rejected this idea, and qualitative analysis of the objections raised by them revealed three major themes: things might go wrong, depersonalization, and patient-related concerns. However, many participants who were highly accepting of the benefits of SARs expressed similar objections. Cultural dimensions of long-term orientation and uncertainty avoidance feature prominently in technology acceptance research. Therefore, the relationship between the proportion of respondents from each country who felt that SARs had no benefits and each country's ratings on long-term orientation and uncertainty avoidance were also examined. A significant positive correlation was found for long-term orientation, but not for uncertainty avoidance.

Conclusion

Most respondents were positive about the benefits of SARs, and similar concerns about their use were expressed both by those who strongly accepted the idea that they had benefits and those who did not. Some evidence was found to suggest that cultural factors were related to rejecting the idea that SARs had benefits.     

蒙医对青盲症的治疗浅述

青盲症西医称青光眼。该病是由眼内房水增多 ,致使眼压升高的一种临床常见病。蒙医学认为该病的生成是由于“三根、七素”失常 ,致房水增多 ,头疼眼胀 ,视物日渐昏朦 ,继而瞳孔变青色 ,终至失明的一种眼病 ,蒙医称青盲症。对该病的治疗蒙医常分为三种型 ,即 :血、希拉型青盲症 ,赫依、血型青盲症 ,巴达干、赫依型青盲症。1　临床表现青盲症患者长期因血希拉热及肝火上攻于目 ,或因巴达干、赫依性病气血渐衰 ,正精日损 ,目失涵养所致 ,或由昏朦症转变而成。一般病初无自觉症状 ,有轻度眼珠胀痛和前额及头部疼痛 ,视物时明时朦 ,视力逐渐下降 …     

HRM and SNaPshot as alternative forensic SNP genotyping methods

Single nucleotide polymorphisms (SNPs) have been widely used in forensics for prediction of identity, biogeographical ancestry (BGA) and externally visible characteristics (EVCs). Single base extension (SBE) assays, most notably SNaPshot® (Thermo Fisher Scientific), are commonly used for forensic SNP genotyping as they can be employed on standard instrumentation in forensic laboratories (e.g. capillary electrophoresis). High resolution melt (HRM) analysis is an alternative method and is a simple, fast, single tube assay for low throughput SNP typing. This study compares HRM and SNaPshot®. HRM produced reproducible and concordant genotypes at 500 pg, however, difficulties were encountered when genotyping SNPs with high GC content in flanking regions and differentiating variants of symmetrical SNPs. SNaPshot® was reproducible at 100 pg and is less dependent on SNP choice. HRM has a shorter processing time in comparison to SNaPshot®, avoids post PCR contamination risk and has potential as a screening tool for many forensic applications.