6 research outputs found
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
No full textFragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5' UTR of the FMR1 gene. Full mutation alleles (FM) have more than 200 repeats and result in FMR1 gene silencing and FXS. FMs arise from maternal premutations (PM) that have 56-200 CGGs; contractions of a maternal PM or FM are rare. Here, we describe two unaffected boys in two independent FXS families who inherited a non-mosaic allele in the normal and intermediate range, respectively, from their mothers who are carriers of an expanded CGG allele. The first boy inherited a 51 CGG allele (without AGG interruptions) from his mother, who carries a PM allele with 72 CGGs. The other boy inherited from his FM mother an unusual allele with 19 CGGs resulting from a deletion, removing 85 bp upstream of the CGG repeat. Given that transcription of the deleted allele was found to be preserved, we assume that the binding sites for FMR1 transcription factors are excluded from the deletion. Such unusual cases resulting in non-mosaic reduction of maternal CGG expansions may help to clarify the molecular mechanisms underlying the instability of the FMR1 gene
The novel CFTR haplotype E583G/F508del in CFTR-related disorder
No full textBackground CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We described the molecular evaluation of the rare CFTR variant E583G identified in trans with the F508del in a novel haplotype. Methods and results An adult woman was referred to our pulmonary unit for persistent respiratory symptoms. CFTR Next Generation Sequencing was performed to evaluate full-gene mutational status. The variant identified was evaluated for its pathogenicity integrating clinical evidences with dedicated bioinformatics analyses. Clinical evaluation of patient matched with a mono-organ CFTR-RD diagnosis. Genotyping revealed the novel CFTR haplotype F508del/E583G. Multiple evidences of a deleterious effect of the CFTR E583G rare variant emerged from the bioinformatics analyses performed. Conclusions Guidelines for CFTR-RD are available with the purpose of harmonizing clinical and molecular investigations. In such context, the identification of novel CFTR haplotype need to a deeper evaluation with a combination of skills. The novel E583G variant could be considered of clinical interest and overall a CFTR-RD Variants of Varying Clinical Consequences
Identification of a false-positive multiplex ligationdependent probe amplification result in BRCA1 using a copy number variation algorithm under development for a commercial next-generation sequencing-based homologous recombination deficiency assay
No full textEnergy Efficient Lighting Design Criteria: Cost-Effective Solutions in an Industrial Environment
No full textThe continual rising cost of energy, existing outdated lighting technology, and inefficient lighting designs have given property owners the opportunity to improve their facilities by retrofitting their existing luminaires with an energy efficient lighting system. A lighting retrofit uses the existing electrical infrastructure to replace, relocate, or convert existing luminaires with the latest generation of cost-effective components.
New lighting technology has emerged within the last 6 years that generates energy savings of 40% to 50% while maintaining existing light levels. These upgraded and field-tested solutions lower energy consumption, generate a healthy financial return on investment, and can improve both the quality and quantity of light in the task area.
As with any other solution, a cost-effective lighting system must be designed and engineered carefully to accommodate the needs of each work space. Simply installing a new lamp into an existing luminaire will not necessarily guarantee substantial energy savings or an improved lighting environment. In any space that uses electric lighting, the lighting designer must evaluate potential solutions for energy consumption, maintenance concerns, delivered light levels, hostile environments, and the overall economic impact of installing and long-term operation of the new system.
In this paper, the author will discuss energy efficient lighting design criteria and how a lighting designer properly engineers a retrofit project to deliver energy savings without sacrificing light levels. The discussion includes a summary of both traditional and emerging technologies, and the long-term impact on energy consumption, maintenance, return on investment, lighting quality, and delivered light levels.
Paper published with permission.</jats:p
“We are against Islam!”: The Lega Nord and the Islamic folk devil
No full text© 2012 the Author(s). This article has been published under the terms of the Creative Commons Attribution License. Without requesting permission from the Author or SAGE, you may further copy, distribute, transmit, and adapt the article, with the condition that the Author and SAGE Open are in each case credited as the source of the article.Since 1995, the Italian Lega Nord (LN) political party has depicted itself as the defender of Padania, a territory that covers the mainly affluent regions of Northern Italy. Around this politico-spatial territory, the LN has shaped an identity based on the notion of Popolo Padano (the Padanian People). Since the new millennium, LN rhetoric has increasingly focused—stemming more from the demands of realpolitik than those of conviction—on opposing irregular immigration per se and, more specifically, Islam and Muslim immigration. In the eyes of the LN propagandists and their media, the theology of Islam and its practitioners represent a growing threat to the modern Italian and Padanian identity (and tradition). The LN has not been alone in using the media to oppose Islam; the Italian media has reinforced LN messages; Muslims are generally depicted as dangerous and compared with terrorists and their religion and culture are described as the opposite of Italian/West values. Something approximating to a “moral panic” around this issue has ensued. Integral to this are notions of morality combined with practices of moral entrepreneurship. What follows seeks to highlight the LN’s stereotypical depictions of Islam. This evaluation is important because the LN was a major player in former Prime Minister Silvio Berlusconi’s government (2008-2011) and is still a significant party among the Italian political spectrum. Integral to what follows are the following questions: “Is contemporary Islamic immigration a threat to the Italian (and Padanian) way of life?” and “Are the perceived threats to be found in the periodic uncertainties that societies suffer or might we need to search for wider processes?
G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population
No full textBackground: Glucose 6 phosphate dehydrogenase (G6PD) is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells increases the risk of acute haemolytic anaemia under oxidative stress induced by infections, some medications, or fava beans. More than 200 single missense mutations are known in the G6PD gene. A 41-year-old woman with a family history of favism coming from the Basilicata region (Italy) was evaluated at our hospital for G6PD abnormalities. Methods: DNA was extracted from a peripheral blood sample and genotyped for the most common G6PD pathogenic variants (PVs). Positive results obtained by Restriction Fragment Length Polymorphism (RFLP), as per practice in our laboratory, were then reconfirmed in Sanger sequencing. Results: RFLP analysis highlighted a variant compatible with the G6PD Cassano variant. Confirmatory testing by Sanger unexpectedly identified a novel variant: c.1357G>A, p.(Val453Met) (NM_001360016.2); the same variant was found in the patient’s mother. In silico models predicted a deleterious effect of this variant at the protein level. The novel G6PD variant was named “G6PD Potenza” on the basis of the patient’s regional origin. Conclusions: This case describes a novel G6PD variant. It also highlights how the Sanger sequencing technique still represents an indispensable confirmatory standard method for variants that could be misinterpreted by only using a “first-level” approach, such as the RFLP. We stress that the evaluation of clinical manifestations in G6PD-deficient patients is of primary importance for the classification of each new G6PD mutation, in agreement with the new WHO guidelines
