by Shechter Yonat  , Dagan Amir  , Ben-Haim Menachem  , Bar-Ziv Yaakov  , Brazovsky Eliyau  , Shteingart Shimon  , Dancour Alian  , Paz Kalman  and Lurie Yoav

Received: 17 February 2018;  Published: 01 September 2018;  doi: 10.21926/obm.hg.1803009

Cholangiocarcinoma is an uncommon adenocarcinoma with poor prognosis. Signet ring cell cholangiocarcinoma is an extremely rare disease, with only 11 cases reported to date. However, its incidence is increasing. Similarly, there is an increasing incidence of other SRC tumors (colon, gastric etc.) as well. Most cases have described a localized mass of signet ring cells, mostly in the common bile duct. A 69-year-old Caucasian man admitted for jaundice and abdominal pain that began 3 days prior to his hospitalization. [...]

by Thomas Eggermann  , Deborah J.G. Mackay  and Zeynep Tümer

Received: 28 June 2018;  Published: 30 August 2018;  doi: 10.21926/obm.genet.1803031

Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD. Though its general frequency is unknown, it becomes clinically relevant when it produces homozygosity for recessive pathogenic variations or is associated with chromosomal imbalances. UPDs are well-known for thei [...]

by Ezekiel Ijaopo  and Ruth Ijaopo

Received: 26 April 2018;  Published: 27 August 2018;  doi: 10.21926/obm.geriatr.1803010

With increased life expectancy coupled with falling birth rate, issues concerning population ageing have vital outcomes and effects for all aspects of human life particularly as it relates to older people’s health and health care. Among these issues are oral health diseases which present as major public health concerns and constitute significant burden to all regions of the world. FDI World Dental Federation in 2018, states that 90% of the entire world’s population will be afflicted by oral health problems in their [...]

by Peter Morrell

Received: 06 June 2018;  Published: 23 August 2018;  doi: 10.21926/obm.icm.1803016

This paper explores some of the conceptual issues that arise when comparing homeopathy with the mainstream medical system, both in terms of their underpinning philosophies and in their treatment methods, and especially when applied to the problem of cancer. A review is under-taken of the key concepts that underpin both medical approaches: the holistic approach of homeopathy and the reductionist approach of mainstream medicine. The article closes with a discussion of the emerging conflicts between classical homeopat [...]

by Michelle A. Camarata  , Uyen To  and Michael L. Schilsky

Received: 18 July 2018;  Published: 22 August 2018;  doi: 10.21926/obm.genet.1803030

Wilson Disease is a monogenetic disorder of copper metabolism affecting the ATP7B gene. Treatment is lifelong and focuses on removal of copper to arrest disease progression and improve the clinical manifestations of copper toxicity. Currently the only cure is liver transplantation, however, lifelong monitoring and immunosuppressive medications are still needed afterwards. The possibility of introducing functional ATP7B gene through gene therapy provides an exciting potential option for achieving a more permanent cu [...]

by Fraser L.E. Fisher  and Aileen M. Pidgeon

Received: 10 July 2018;  Published: 21 August 2018;  doi: 10.21926/obm.icm.1803015

Elevated levels of psychological distress in university students is a growing area of concern as it is associated with a variety of consequences including mental illness symptoms, absenteeism, and poor academic performance. A growing body of research has indicated that resilience in university students is associated with reduced psychological distress and perceived stress. The construct of resilience and the factors that contribute to its development are not well understood, hampering the development of effective i [...]

by Melita Vidakovic  , Jessica Marinello  , Maija Lahtela-Kakkonen  , Daumantas Matulis  , Vaida Linkuvienė  , Benoît Y. Michel  , Ruta Navakauskiene  , Michael S. Christodoulou  , Danielle Passarella  , Saulius Klimasauskas  , Christophe Blanquart  , Muriel Cuendet  , Judit Ovadi  , Stéphane Poulain  , Fabien Fontaine-Vive  , Alain Burger  and Nadine Martinet

Received: 30 May 2018;  Published: 16 August 2018;  doi: 10.21926/obm.genet.1803029

Background: With their varied pharmacophores, natural products are interesting tools to open the drug discovery pipeline. Several plant secondary metabolites are components of the human diet and have reported epigenetic activities. In this study, we screened a small natural compound library for epigenetic activities. Methods: Seventy-one different natural products plus 17 controls collected from all collaborating laboratories were screened. Localized DNA methylation (DNAm) was studied on a stretch of the retinoic a [...]

by Ivan Y. Iourov  , Svetlana G. Vorsanova  and Yuri B. Yurov

Received: 29 May 2018;  Published: 15 August 2018;  doi: 10.21926/obm.genet.1803028

Runs of homozygosity (ROH) are uninterrupted contiguous regions within the genome exhibiting allelic homozygosity (alleles are inherited from the same parent). Genome-wide analyses consistently demonstrate that megabase-scale ROH are ubiquitous in humans, reflecting individual demographic history. The number and length of ROH correlate increasingly with the degree of consanguinity and can be associated with genetic diseases in both inbred and outbred individuals. Genomic imprinting and uniparental disomy (UPD) are [...]

by Karine Sénécal  , Brigid Unim  and Bartha Maria Knoppers

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

The benefits of neonatal screening programs are undeniable: children’s lives are saved, and disease burden and morbidity alleviated. Without a doubt, « classical » neonatal screening programs are in the best interests of newborns. Indeed, those screening programs are recognized among the ten most important public health achievements. However, newborn screening programs raise ethical, legal and social challenges. For example, which criteria should govern whether or not to include a disease in the list of screened co [...]

by Loren Pickart  and Anna Margolina

Received: 08 June 2018;  Published: 14 August 2018;  doi: 10.21926/obm.geriatr.1803009

Background: Stem cell technology is a promising research area with a potential to create effective therapies for many degenerative diseases. However, to apply stem cell technology, we need to be able to identify and understand mechanisms that distinguish healthy regeneration processes from processes, which may result in chronic inflammation, scarring, fibrosis or cancer. GHK-Cu (glycine-L-histidine-lysine) is a small copper-binding peptide, which has a remarkable and well-documented ability to improve wound healing [...]