by Sophia Delicou  , Konstantinos Magganas  , Aikaterini Xydaki  and Zoi Pallantza

Received: 19 May 2019;  Published: 17 September 2019;  doi: 10.21926/obm.genet.1903095

Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt hemoglobin synthesis. Thalassemia intermediate is referred to a group of disorders with a less severe form of the disease when compared with thalassemia major. We present the case of a 60 year old woman who was referred to an hematologist for chronic anemia and splenomegaly.

by Johanne Traeger-Synodinos  and François Rousseau

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094

We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.

by Damien Bouvier  and Yves Giguère

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093

Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of [...]

by Caymen M. Novak  , Eric N. Horst  , Shreya Raghavan  and Geeta Mehta

Received: 17 June 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903092

Background: Invasive breast cancer affects 1 in 8 women in the United States and causes one of the highest cancer mortality rates for women. Cyclooxygenase-2 (COX-2), a central enzyme in prostaglandin biosynthesis, is implicated in breast cancer initiation, progression, invasion, metastasis, and has been implicated in mechanotransduction of breast cancers. However, it is not currently known if shear stress mediated mechanotransduction is mediated by COX2. Therefore, in this report, we hypothesized that COX2 modulat [...]

by Hisayuki Komaki  and Tomohiko Tamura

Received: 19 April 2019;  Published: 23 August 2019;  doi: 10.21926/obm.genet.1903091

Background: Streptomyces avermitilis is an actinomytcete producing avermectins and the complete genome sequence of S. avermitilis K139 was determined in 2003. In our previous study, we have revealed that S. avermitilis NBRC 14893T harbors two extra secondary metabolite-biosynthetic gene clusters (smBGCs), com and ptx, which are not present in strain K139. Methods: To determine the genomic loci encoding com and ptx gene clusters, we carried out whole genome sequencing for S. avermitilis NBRC 14893T and ATCC 31267T b [...]

by Tahereh Fatemian  and Ezharul Hoque Chowdhury

Received: 29 March 2019;  Published: 15 August 2019;  doi: 10.21926/obm.genet.1903090

Among the strategies for enhanced pharmacokinetics and also pharmacodynamics of nano-formualtions is introduction of biocompatible materials to improve the capacity of the final product. With the aim to tackle drug loading and ultimate efficacy, incorporation of Bovine Serum Albumin (BSA) into carbonate apatite (CA) structure was applied in this study. As a result, around three times higher loading efficiency for paclitaxel (Pac) was achieved via BSA utilization. Moreover, boosted efficacy in limiting the viability [...]

by Joep Geraedts

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089

Mitochondrial diseases represent the most common inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85 %) are caused by mutations of nuclear genes of oxidative phosphorylation. The remaining 15 % are caused by mtDNA mutations. The familial mtDNA mutations are exclusively inherited from the mother. Dysfunction of oocyte mitochondria is believed to result in poor developmental competence of oocytes in older infertility patients. Therefore, a group of patients underwent ooplasmic t [...]

by Ilaria Scarpelli  , Fabienne Marcelli  , Francesca Mattioli  and Jacqueline Schoumans

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088

With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care. NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global genomic alterations, of germline and somatic origin. Genomic mutation profiling using NGS is today indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. However, the chal [...]

by Leanna J. Standish  , Erin Sweet  , Shelly Hager  , Marcia Gaul  , Kelsey Afdem  and M. Robyn Andersen

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087

Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, genetics, lifestyle an [...]

by Melania Formisano  and Giandomenico Corrado

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086

Background: DNA typing has revolutionised not only diagnostics and forensics but also how we can analyse food. A number of techniques have been successfully applied for DNA analysis of plant-derived food however, unlike forensics, no method has become universally employed. Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, the systematic review was performed focusing on the techni [...]