by Ana Monteagudo-Sánchez  , Marta Sánchez-Delgado  , Sonia Guara Ciurana  , Jose Medrano  , Maria Eugenia Poo-Llanillo  , Miho Ishida  , Gudrun E. Moore  , Isabel Iglesias-Platas  , Carlos Simón  and David Monk

Received: 29 May 2018;  Published: 29 July 2018;  doi: 10.21926/obm.genet.1803026

Background: Symmetrical DNA methylation profiles of autosomal genes are associated with equal expression by both alleles. Genes with an allelic imbalance or monoallelic expression are associated with discrete intervals of allele-specific methylation (ASM), as highlighted by genomic imprinting, X-chromosome inactivation and genotype-driven ASM. However, a more complex pattern has been described in which random monoallelic methylation provides cells with a unique mechanism for modulating allelic dosage. Methods: We c [...]

by Inês Lopes Cardoso

Received: 17 April 2018;  Published: 27 July 2018;  doi: 10.21926/obm.genet.1803025

Some repeats of three or more nucleotides in tandem, which are present in a gene or in its vicinity, tend to increase in number and for this reason are called dynamic mutations. These triplet repeats are unstable and can expand from one generation to the next. According to the expansion size, an unaffected individual can carry a pre-mutation that will expand through generations leading to the development of triplet repeat expansion diseases. The increase in the number of repeats over time leads to earlier developme [...]

by Shoshana H. Bardach  , Christina Moore  , Sarah D. Holmes  , Richard R. Murphy  , Allison Gibson  and Gregory A. Jicha

Received: 15 June 2018;  Published: 26 July 2018;  doi: 10.21926/obm.geriatr.1803006

Background: Given the stigma and fear associated with Alzheimer’s disease (AD), combined with the progressive nature of the disease, the diagnosis of AD or mild cognitive impairment (MCI) is often very difficult; yet, there may still be ways to experience some positive outcomes following diagnosis. We aim to assess the psychological impact of a diagnosis of MCI or early dementia on positive well-being. Methods: Individuals with a diagnosis of MCI or AD were mailed surveys with the Silver-Lining Questionnaire. Resul [...]

by Joep Geraedts

Received: 05 June 2018;  Published: 23 July 2018;  doi: 10.21926/obm.genet.1803024

Both preimplantation genetic testing (PGT) and prenatal diagnosis (PND) are powerful tools to tackle the transmission of inherited disorders carried by families from generation to generation. Here, we present an overview of the current landscape of both methods and identify the pros and cons of each of these reproductive options. In prenatal testing, non-invasive diagnostic methods have become available as an alternative for invasive diagnosis. Different genome sequencing strategies have now been introduced that en [...]

by Irina Bakloushinskaya  and Sergey Matveevsky

Received: 16 May 2018;  Published: 22 July 2018;  doi: 10.21926/obm.genet.1803023

Species of mole voles Ellobius demonstrate a broad variation in sex chromosomes and autosomes, which is unique among mammals. In four species, a Y chromosome was lost, and X0 or XX sex chromosomes in both sexes were obtained. The key testis-determining Sry (Sex-determining Region on Y) gene is absent in these species, and the regulation of its target, the Sox9 (SRY -box 9) gene, is questionable due to deletion in the key enhancer. In a single species, E. fuscocapillus, with routine XX-XY, the same deletion is prese [...]

by Christine M. Bojanowski  , Ian Britton  and Kamyar Afshar

Received: 18 April 2018;  Published: 16 July 2018;  doi: 10.21926/obm.transplant.1803015

Here we present a case of a lung transplant recipient with alpha 1-antitrypsin deficiency as well as conducted a retrospective review of the United Network for Organ Sharing (UNOS) database from 1990 – 2016 specifically grouping patients with alpha-1 antitrypsin deficiency (A1ATD) and chronic obstructive pulmonary disease (COPD).

by Patricia Lynn Dobkin

Received: 23 April 2018;  Published: 02 July 2018;  doi: 10.21926/obm.icm.1803013

Objectives: Living with any chronic pain condition is a challenge that can be met when one reduces reactivity to the sensory and evaluative aspects of it. The aim of this case study is to show how a clinical psychologist with expertise in chronic illness applied Buddhist principles to her own experience. Methods: When one realizes that suffering is the combination of pain plus resistance then one can learn how to accept rather than exacerbate it. Applying the Four Noble Truths from Buddhist psychology to understand [...]

by Peta Stapleton  and Hannah Chatwin

Received: 17 May 2018;  Published: 02 July 2018;  doi: 10.21926/obm.icm.1803014

(1) Background: Because patients vary in their response to treatment, including adherence, the effect of treatment length in the use of EFT on food cravings was examined by comparing two studies in order to ascertain if shorter programs are as effective. This may then impact treatment adherence and completion. (2) Methods: In study one, 96 overweight and obese adults were randomly allocated to a 4-week treatment for their food craving or waitlist condition. In study two, an 8-week EFT program for 47 adults, the sam [...]

by Khawla F. Ali  , Vicente T. San Martin  , Tyler Stevens  , R. Matthew Walsh  , Rita Bottino  , Massimo Trucco  and Betul Hatipoglu

Received: 29 March 2018;  Published: 02 July 2018;  doi: 10.21926/obm.transplant.1803014

Total pancreatectomy (TP) is increasingly being utilized for definitive treatment in patients with debilitating chronic pancreatitis (CP). In an effort to prevent surgical diabetes, the procedure can be performed in conjunction with transplantation of islets of Langerhans recovered from the patients’ own resected pancreas (autologous islet transplantation, AIT). Given that patients undergoing TP and AIT are traditionally assumed not to be at risk for the development of beta-cell autoimmunity, it is possible that th [...]

by Jonathan Manh Dang  , Luma Bashmi  , Stephen Meeneghan  , Janet White  , Rebecca Hedrick  , Jelena Djurovic  , Brigitte Vanle  , Dennis Nguyen  , Jonathan Almendarez  , Paula Ravets  , Yasmine Gohar  , Sophia Hanna  , Itai Danovitch  and Waguih William IsHak

Received: 28 March 2018;  Published: 25 June 2018;  doi: 10.21926/obm.icm.1802011

Background: An increasing number of patients and practitioners are using mindfulness meditation programs despite uncertainty about the evidence supporting these programs’ health benefits. Aim: To review the current evidence on the effectiveness of mindfulness-based interventions (MBI) on depressive symptoms and quality of life (QOL) among patients with depression comorbid medical conditions and those with major depressive disorder. Methods: A comprehensive search of PubMed, Ovid MEDLINE, and PsycINFO was performed [...]

by Im Quah-Smith

Received: 09 May 2018;  Published: 25 June 2018;  doi: 10.21926/obm.icm.1802012

The Auricular approach to diagnostics and therapeutics has gained momentum over the last 15 years. Battlefield Acupuncture has taken on a life of its own and has been adopted into NATO and even been introduced into neonatal intensive care. It is time to take on the challenge of Auricular Medicine - the application of the neurophysiological phenomenon referred to as the Vascular Autonomic Signal or VAS to identify active ear sites in Auricular interventions. It is time to utilize the VAS in therapeutics, recognizing [...]

by Yoshitaro Shindo  and Mazhar A. Kanak

Received: 29 March 2018;  Published: 22 June 2018;  doi: 10.21926/obm.transplant.1802013

Islet cell transplantation is a developing treatment for patients suffering from severe Type-1 diabetes. The long-term insulin independence after islet cell transplantation has been difficult to achieve, and this has been linked to several factors. One of the major cause of poor long-term outcome is inflammation surrounding the islets. Inflammation in islets is caused at several stages, donor induced, during organ preservation, islet isolation stress, peri-transplant inflammation or instant blood mediated inflammat [...]

by Victoria Gómez-Dos-Santos  , Vital Hevia-Palacios  , Edurne Ramos-Muñoz  , María Laura García-Bermejo  , Esperanza Macarena Rodríguez-Serrano  , Ana Saiz-González  , Jose Manuel Del Rey-Sánchez  and Francisco Javier Burgos-Revilla

Received: 22 March 2018;  Published: 21 June 2018;  doi: 10.21926/obm.transplant.1802012

Background: Extended criteria donors and donation after cardiac death donors provide organs which tend to be more sensitive to the stress of preservation. There is a lack of evidence about the potential role of oxygen in preservation techniques, and literature comparing oxygenated and non-oxygenated techniques is very limited. The aim of the study was to compare HMP with oxygen versus HMP without oxygen in a pig model of kidney auto-transplantation (KT) reproducing conditions of DCD. We have also set up miRNAs expr [...]

by Diane B. Paul  and Ilana Löwy

Received: 16 April 2018;  Published: 12 June 2018;  doi: 10.21926/obm.genet.1802022

We address an ongoing controversy over what health-care providers tell prospective parents about Down Syndrome (DS). Many parent, disability-rights, and anti-abortion activists believe that the messages that health-care professionals transmit to pregnant women and their partners are distorted. In their view, OB-GYNs, primary-care providers, clinical geneticists, midwives and other medical professionals generally assume that the quality of life for individuals with DS and their families is poor, whereas in fact, tho [...]

by Nicholas Lim  , Gregory Beilman  and Timothy Pruett

Received: 21 March 2018;  Published: 12 June 2018;  doi: 10.21926/obm.transplant.1802011

Portal hypertension often occurs transiently with injection of islet cells into the portal system during total pancreatectomy-islet autotransplantation (TPIAT). We describe a TPIAT patient with non-cirrhotic portal hypertension (NCPH) two years after surgery initially identified with esophageal varices on upper endoscopy. The underlying mechanism for the development of NCPH after TPIAT is unclear but infectious and immune-related pathways have been proposed. Management of NCPH is primarily treatment of complication [...]

by Florence Durand  , Noomane Bouaziz  , Sonia Braha-Zeitoun  , Clémence Isaac  , Palmyre Schenin-King Andrian  and Dominique Januel

Received: 12 March 2018;  Published: 11 June 2018;  doi: 10.21926/obm.geriatr.1802005

Background: Mild Cognitive Impairment [MCI] is a transition stage between normal aging and dementia. It seems to be useful to treat MCI before the onset of early dementia, though no pharmacological treatment is recommended [1]. These case studies aimed to assess the efficacy of long-term repetitive Transcranial Magnetic Stimulation [rTMS] treatment on cognition, and clinical changes, in elderly MCI patients. Methods: Three patients with MCI were treated by rTMS with different parameters of stimulation, targeting th [...]

by Katie M. Hinsey  , Karen E. Atler  , Christine A. Fruhauf  , Ruby A. Bolster  , Marieke Van Puymbroeck  and Arlene A. Schmid

Received: 07 March 2018;  Published: 11 June 2018;  doi: 10.21926/obm.icm.1802010

Background: A fall prevention intervention was delivered to people with chronic stroke (Merged Yoga and Occupational Therapy intervention-MY-OT). All caregivers were invited to also attend the 8-week intervention and were included in these analyses. Methods: The aim of this study was to examine changes in caregiver burden, positive aspects of caring, and caregiver's experiences after participating in the MY-OT intervention. This was a secondary data analyses and the purpose of this mixed-methods study was to quanti [...]

by Bridget W. Brox  , Darren J. Day  and Bart A. Ellenbroek

Received: 01 February 2018;  Published: 07 June 2018;  doi: 10.21926/obm.neurobiol.1802010

(1) Background: Drug addiction places a heavy burden on those affected by it but only a small percentage of individuals (~20%), regardless of their drug of abuse, go on to develop the compulsive behaviours that define drug addiction. Clinical studies have shown that genetic variations that reduce serotonin transporter (SERT) activity increase the vulnerability to developing a variety of psychiatric disorders such as depression, anxiety and drug addiction. (2) Methods: To investigate the influence of reduced SERT fu [...]

by Preeti Chhabra  and Kenneth L. Brayman

Received: 02 April 2018;  Published: 05 June 2018;  doi: 10.21926/obm.transplant.1802010

Pancreas or islet transplantation is the only reliable cure for Type 1 Diabetes. However, shortage of donor tissue supply, longitudinal graft attrition due to innate and adaptive immunity and the recurrence of autoimmunity, as well as the harmful side-effects of chronic immunosuppressive therapy limit the wide-spread acceptance of islet transplantation as a mainstream cure for autoimmune diabetes. Herein, preclinical and clinical stem-cells based research approaches aimed at obtaining large quantities of islets for [...]

by Alberto Dionigi

Received: 16 February 2018;  Published: 31 May 2018;  doi: 10.21926/obm.icm.1802009

Clowning has a varied tradition and a long history. Recently, clowns have been adopted in the medical setting with the aim of decreasing the negative emotions that can be experienced during hospitalization and medical procedures, as well as inducing positive feelings in patients, their relatives, and the hospital staff. Due to an increase in the number of clowns working in hospitals and the large amount of interest shown in utilizing this approach, an increasing number of studies have focused on testing the efficac [...]

by Gina Sizemore  , Brandon Lucke-Wold  , Charles Rosen  , James W. Simpkins  , Sanjay Bhatia  and Dandan Sun

Received: 12 January 2018;  Published: 31 May 2018;  doi: 10.21926/obm.neurobiol.1802009

The brain is an integrated network of multiple variables that when compromised create a diseased state. The neuropathology of temporal lobe epilepsy (TLE), stroke, and traumatic brain injury (TBI) demonstrate both similarity and complexity that reflects this integrated variability; TLE with its live human tissue resection provides opportunity for translational science to demonstrate scale equivalent experimentation between the macroscopic world of clinical disease and the microscopic world of basic science. The ext [...]

by Anita Verma  , Katharina Sophia Weigel  , Sim You Kuan Dexter  and Anil Dhawan

Received: 26 March 2018;  Published: 29 May 2018;  doi: 10.21926/obm.transplant.1802009

Invasive fungal infections (IFI) remain an important cause of morbidity and mortality, especially in hospitalized and immunocompromised or critically ill patients. The incidence of IFIs has been declining in liver transplant recipients (LTR). This is likely due to the evolving immunosuppressive drug regimens, improved surgical techniques and targeted antifungal prophylaxis. However, IFI still contribute to high mortality and are associated with high economic burden due to consumption of costly newer antifungal agen [...]

by Emily Gutierrez  and Yousef Elyaman

Received: 04 March 2018;  Published: 23 May 2018;  doi: 10.21926/obm.icm.1802008

Lifestyle and dietary interventions can have a significant impact on patients with dyslipidemia and should be encouraged with the use of dietary supplements. With new research, there is evidence that using dietary supplements, specifically nutraceuticals can be helpful for cholesterol management. Four commonly used supplements are: Red Yeast Rice, Omega 3 Fatty Acids, Niacin and Berberine.

by Thomas Liehr  , Monika Ziegler  , Nadezda Kosyakova  and Ahmed B.H. Al-Rikabi

Received: 16 March 2018;  Published: 17 May 2018;  doi: 10.21926/obm.genet.1802021

Background:Fluorescence in situ hybridization (FISH) can be performed on metaphase- and/or interphase cells. Metaphase cells can exclusively be obtained and studied after time-consuming cell culture. Therefore, this technique is suitable only for cells derived from peripheral blood, bone marrow or fibroblasts, the latter including skin, tumour or "prenatal tissues", such as the amnion or chorion. On the other hand, interphase cells can be gained from many different cells and even without cell culture. Methods:Here, [...]

by Habibur P. Rahman  , DaiRicky H Bhogal  and Patricia F. Lalor

Received: 05 February 2018;  Published: 16 May 2018;  doi: 10.21926/obm.hg.1802007

Background & Aims. Acute kidney injury (AKI) is a serious complication of liver surgery and associated with significant morbidity and mortality. The incidence of AKI following hepatic surgery can be as high as 94%, with highest rates seen following orthotopic liver transplantation, particularly when extended criteria grafts are used. Strategies to identify patients at risk of AKI may enable early interventions to prevent or minimise AKI. Methods. A systematic review was conducted using PubMed, Medline, Cochrane and [...]