E-cigarette use and associated changes in population smoking cessation: evidence from US current population surveys

Objective To examine whether the increase in use of electronic cigarettes in the USA, which became noticeable around 2010 and increased dramatically by 2014, was associated with a change in overall...

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Paediatric Dermatofibrosarcoma Protuberans (DFSP): Evaluation of a Rare Childhood Malignancy, the Welsh Experience

A letter to author regarding paediatric DFSP.

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Smallest satellite ever paves way for planned interstellar fleet

Breakthrough Starshot, the $100 million project to send tiny spacecraft to Alpha Centauri, successfully operated a mini-satellite in orbit for the first time

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Smallest satellite ever paves way for planned interstellar fleet

Breakthrough Starshot, the $100 million project to send tiny spacecraft to Alpha Centauri, successfully operated a mini-satellite in orbit for the first time

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Role of serum MMP-9 levels and vitamin D receptor polymorphisms in the susceptibility to coronary artery disease: An association study in Iranian population

Publication date: 10 September 2017
Source:Gene, Volume 628
Author(s): Nariman Moradi, Reza Fadaei, Reza Ahmadi, Milad Hajimirza Mohammad, Serveh Shahmohamadnejad, Masoumeh Tavakoli-Yaraki, Hassan Aghajani, Soudabeh Fallah
BackgroundData concerning the association of serum levels of vitamin D and metalloproteinases and vitamin D receptor gene polymorphism with coronary artery disease (CAD) is not fully demonstrated. The present study aimed to evaluate the association of vitamin D receptor gene polymorphism, serum levels of 25(OH) vitamin D and metalloproteinase-9 (MMP-9) with CAD.Methods104 patients with CAD and 69 Non-CAD subjects were included in current study. Vitamin D receptor genotypes were determined by PCR-RFLP method. The 25(OH) vitamin D and MMP-9 were determined by ELISA assay.ResultsThere was a significant reduction of vitamin D in CAD patients (P=0.001). The metalloproteinase 9 levels of CAD patient was increased significantly compared with controls (P=0.001). A significant reverse correlation also was found between MMP-9 concentration and 25(OH) vitamin D levels of patients (r=−0.28, P<0.001). In addition, we identified that VDR gene FokI polymorphism was significantly associated with CAD. Furthermore, MMP-9 levels of CAD patients with ff genotype of FokI polymorphism was higher significantly than patients with FF and Ff genotypes. It has been also found that MMP-9 levels of CAD patients with ff genotype of FokI polymorphism was higher significantly than patients with FF and Ff genotypes.ConclusionOur results indicated that 25(OH) vitamin D, MMP-9 levels and VDR gene FokI polymorphisms play a critical role in the development and progression of CAD and may contribute to susceptibility to CAD in Iranian populations.



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Investigation of the role of DNA methylation in the expression of ERBB2 in human myocardium

Publication date: 10 September 2017
Source:Gene, Volume 628
Author(s): Adolfo Quiñones-Lombraña, Rachael Hageman Blair, Javier G. Blanco
The ERBB2 gene encodes a transmembrane tyrosine kinase receptor that belongs to the epidermal growth factor receptor (EGFR) family. ERBB2 plays a pivotal role during heart development and is essential for normal cardiac function, particularly during episodes of cardiac stress. The monoclonal antibody drug trastuzumab is used for the therapy of breast cancers that overexpress ERBB2. The clinical use of trastuzumab is limited by the development of cardiotoxicity in some patients. Inter-individual differences in the expression of ERBB2 in cardiac tissue may impact the risk of cardiotoxicity. In this study, we examined whether DNA methylation status in the proximal promoter region of ERBB2 is associated to variable ERBB2 mRNA and ERBB2 protein expression in human myocardium. Complementary studies with ERBB2 gene reporter constructs and chromatin immunoprecipitation suggest that differential methylation in specific CpG sites modify the binding of Sp1 to the promoter of ERBB2. DNA methylation in the ERBB2 locus may contribute to the variable expression of ERBB2 in human myocardium.



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Long-Term Outcome of Adenosine Deaminase-Deficient Patients—a Single-Center Experience

Abstract

Purpose

Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describe the long-term benefits of these treatments.

Methods

Survival, infections, systemic sequelae, and laboratory assessments were recorded for all ADA-deficient SCID patients, managed at a single center since 1985, who survived 5 or more years following treatment.

Results

Of 20 ADA-deficient patients, the 8 (40%) who survived 5 or more years (range 6–29.5 years, median 14 years) were included in the study. Among the long-term survivors, two patients were treated exclusively with ERT, five underwent HSCT (three from HLA-matched sibling donors, two from HLA-mismatched related donors), and one received GT. The long-term survivors often suffered from recurrent respiratory infections; however, opportunistic infections occurred in only one patient. Systemic sequelae included lung disease such as bronchiectasis and asthma (four patients), neurologic abnormalities (six patients), metabolic disturbances (two patients), allergy and autoimmunity (six patients), and neoplasms (three patients). Normal CD4⁺ T cell numbers and function, as well as antibody production, were usually observed after HSCT and GT, but not after ERT. Late deaths occurred in two patients at 15 and 25 years after HSCT, respectively, and were attributed to respiratory failure.

Conclusions

ADA-deficient patients commonly suffer from long-term complications, emphasizing the need for improved management and for multi-disciplinary follow-up.

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