Table of Content

Open Access Original Research

Role of Automated Insulin Delivery (Artificial Pancreas) in Islet Transplantation: An In Silico Assessment

Received: 17 May 2018;  Published: 11 September 2018;  doi: 10.21926/obm.transplant.1803019

Abstract

Background: Human pancreatic islet transplantation is a minimally-invasive procedure that is gaining recognition for the treatment of type 1 diabetes (T1D). Selected patients with unstable T1D, hypoglycemia unawareness, history of severe hypoglycemia, and glycemic lability, not successfully stabilized with intensive insulin treatment, can be offered this alternative therapy that has been shown to provide long-term glycemic control with near-normalization of hemoglobin A1c in the absence of severe hypoglycemia. Toda [...]

1649 12563

Open Access Communication

Gut Microbes and Pathophysiology of Sepsis: Spillage of Gut Microbial Products, rather than Systemic Dissemination of Gut Microbes, is the Potential Initiator of Septic Morbidity

Received: 22 July 2018;  Published: 09 September 2018;  doi: 10.21926/obm.hg.1803010

Abstract

Gut microbes and pathophysiology of sepsis: Spillage of gut microbial products, rather than systemic dissemination of gut microbes, is the potential initiator of septic morbidity

1222 5995

Open Access Case Report

sSMC Characterization in a Male with Turner Syndrome Stigmata

Received: 23 March 2018;  Published: 07 September 2018;  doi: 10.21926/obm.genet.1803033

Abstract

Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46, X, +mar are even more scarce. According to the literature, sSMCT are derived from one of the Y-chromosomes in ~70% of the cases. Thus, to identify the presence of Y-chromosomal material is imperative, since these cases have an increased risk of gonadoblastoma deriving from the streak gonads. Methods: A 24-year-old short statured male presented with [...]

1907 10061

Open Access Review

Epigenetics of IgA Nephropathy: A Brief Review

Received: 27 May 2018;  Published: 06 September 2018;  doi: 10.21926/obm.genet.1803032

Abstract

Immunoglobin A Nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Its development is characterized by the deposition of immune complexes that consist of abnormally galactosylated IgA1 molecules and IgG or IgA autoantibodies in the mesangium and the subsequent induction of renal injury. Recent research has shed light to many aspects of the pathogenesis of the disease, including the contribution of epigenetic modifications in its onset and progression. This review aims to present some of the [...]

2174 10380

Open Access Review

A Review of the Efficacy of Yoga and Meditation-Based Interventions for Rheumatoid Arthritis

Received: 27 June 2018;  Published: 05 September 2018;  doi: 10.21926/obm.icm.1803018

Abstract

Background: This paper presents a review of the evidence regarding the efficacy and impact of Yoga and mindfulness with meditation among patients with rheumatoid arthritis (RA). Patients who suffer from RA express a variety of symptoms that negatively impact their physical functioning and performance in social roles. Yoga and meditation-based therapies have been previously used to manage chronic pain conditions and other persisting disorders in affected populations. The suitability and effectiveness of these practi [...]

2246 13151

Open Access Opinion

The Holy Grail to Clinical Transplant Tolerance Is Paved with HLA Epitopes

Received: 11 July 2018;  Published: 05 September 2018;  doi: 10.21926/obm.transplant.1803018

Abstract

The Holy Grail to Clinical Transplant Tolerance is Paved with HLA Epitopes

1339 8121

Open Access Review

Neuroimaging in Dementia

Received: 15 May 2018;  Published: 03 September 2018;  doi: 10.21926/obm.geriatr.1803011

Abstract

Amyloid positron emission tomography (PET), fluorodeoxyglucose (FDG) PET, and magnetic resonance imaging (MRI) are three modalities in the imaging of Alzheimer’s disease (AD). This article reviews the experience and data obtained from AD research using these techniques to understand the natural history of AD and to enhance therapeutic trials. It is now realised that their use can improve early detection of AD, and has opened a new corridor which may lead toward successful treatment.

2271 15709

Open Access Original Research

Homeopathy and Complementary Integrative Medicine, Dietary and Lifestyle Advices to Reduce Adverse-Effects of Anti-Cancer Therapy: A Cohort Study with Breast Cancer Patients

Received: 28 March 2018;  Published: 03 September 2018;  doi: 10.21926/obm.icm.1803017

Abstract

Background: To manage the adverse effects of anti-cancer treatment, the Homeopathic Clinic of Lucca collaborated with the oncology department of the the Health Unit Toscana North West Lucca and set up an Integrative Oncology Outpatient Unit in the Public Hospital Campo di Marte. Aim: The purpose of this study was to present the results of the homeopathic and complementary integrative medicine treatment targeted at reducing the adverse effects of anti-cancer therapy and cancer symptoms, and to give dietary and lifes [...]

2671 24019

Open Access Case Report

An Unusual Case of Signet Ring Cell Cholangiocarcinoma: Case Report and a Review of Literature

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

Abstract

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. [...]

1198 6984

Open Access Review

Uniparental Disomy and Imprinting Disorders

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

Abstract

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 [...]

3669 35561

Open Access Review

A Review of Oral Health in Older Adults: Key to Improving Nutrition and Quality of Life

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

Abstract

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 [...]

2611 22778

Open Access Original Research

Homeopathy and Cancer – Some Conceptual Issues

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

Abstract

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 [...]

2606 41374

Open Access Review

Prospects for Cure in Wilson Disease

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

Abstract

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 [...]

1998 11757

Open Access Original Research

The Four-Facet Model of Eudaimonic Resilience and Its Relationships with Mindfulness, Perceived Stress and Resilience

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

Abstract

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 [...]

1998 11936

Open Access Original Research

New Insights into the Epigenetic Activities of Natural Compounds

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

Abstract

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 [...]

2180 14051

Open Access Opinion

Runs of Homozygosity and Epigenetic Deregulation of Genomic Imprinting

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

Abstract

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 [...]

2026 9969

Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

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

Abstract

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 [...]

2337 16797

Open Access Original Research

The Effect of the Human Plasma Molecule GHK-Cu on Stem Cell Actions and Expression of Relevant Genes

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

Abstract

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 [...]

3786 114292

Open Access Original Research

Acceptance of HPV Vaccination in Kidney Transplant Recipients

Received: 30 June 2018;  Published: 14 August 2018;  doi: 10.21926/obm.transplant.1803017

Abstract

Background: Human Papilloma virus (HPV) infections are an increasingly concerning etiology for post-transplantation viral-related malignancies. The nonavalent HPV vaccine (Gardasil 9) affords transplant recipients the best opportunity for malignancy prevention, but vaccine uptake remains low. Not previously reported for solid organ transplant recipients, we studied influential factors for HPV vaccine non-initiation. Methods: This survey, conducted from May to December 2017, examined influential factors for HPV vacc [...]

1721 11735

Open Access Original Research

Implementation of a Geriatric Patient-Centered Medical Home: the Geriatric Patient – Aligned Care Team (GeriPACT)

Received: 21 May 2018;  Published: 13 August 2018;  doi: 10.21926/obm.geriatr.1803008

Abstract

Background: A Veterans Health Administration (VHA) patient centered medical home, the Geriatric Patient- Aligned Care Team (GeriPACT). Methods: Plan-Do-Study-Act (PDSA) cycles regarding strategy, resource development, patient and caregiver experience of care, and clinical care process improvement. Stakeholder engagement for half-time operation with initial grant support for personnel who also had collateral duties. Tracking of operations data. Results: The clinic population grew from 200 to 627 over a 7-year period [...]

2280 13581

Open Access Original Research

Simultaneous Localization and Mapping (SLAM) for Route Reversal Learning

Received: 25 May 2018;  Published: 09 August 2018;  doi: 10.21926/obm.geriatr.1803007

Abstract

Background: In this paper, we describe the design of a virtual environment (VE) using Simultaneous Localization and Mapping (SLAM) to scan and replicate a real environment (RE) in a virtual domain. Compared to using a CAD software, SLAM allows for the replication of an RE quite easily and quickly. Methods: To test the user’s performance in a SLAM-based VE, we developed an immersive virtual reality setup using a specialized wheelchair (VRNChair) and a head mounted display (Oculus Rift DK2), and employed a knowledge [...]

1766 12023

Open Access Original Research

Peptides Obtained by Enzymatic Decomposition of Mackerel Prevent Nonalcoholic Steatohepatitis in Sprague-Dawley Rats fed a High-fat and High-cholesterol Diet

Received: 09 April 2018;  Published: 03 August 2018;  doi: 10.21926/obm.hg.1803008

Abstract

Background: The pathogenesis of nonalcoholic steatohepatitis (NASH) is thought to be multifactorial, and oxidative stress may play an important role in the development of NASH. Peptides obtained by enzymatic decomposition of mackerel (EMP) including selenoneine were recently reported to possess antioxidative activity. Thus, EMP can be a candidate dietary strategy for the prevention of NASH. [...]

1352 6768

Open Access Communication

Intrapancreatic Parenchymal Cell Transplantation as a Possible Model for the Development of a Cell-based Therapy for Type I Diabetes Mellitus

Received: 28 March 2018;  Published: 02 August 2018;  doi: 10.21926/obm.transplant.1803016

Abstract

Background: Transplantation of isolated islets is one of the most powerful approaches to cure insulin-dependent (type I) diabetes mellitus (IDDM). Currently, the most widely used transplantation strategy is percutaneous perfusion into the liver via the portal vein. However, this approach has several drawbacks and is often limited by the large number of islets required and hypoxic damage to the grafts. Methods: In this article, we posit intrapancreatic parenchymal cell transplantation (IPPCT) as a promisin [...]

1498 10016

Open Access Original Research

Epigenetic Symmetry of DLGAP2: Pre-Implantation Maternal Methylation Switches to a Random Monoallelic Profile in Somatic Tissues

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

Abstract

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 [...]

2354 16591

Open Access Review

Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease

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

Abstract

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 [...]

2350 10490

Open Access Short Report

Positive Life Experiences Following a Dementia Diagnosis

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

Abstract

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 [...]

2066 12692

Open Access Review

To Opt or Not to Opt for Preimplantation and/or Prenatal Genetic Testing?

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

Abstract

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 [...]

2220 10774

Open Access Review

Unusual Ways to Lose a Y Chromosome and Survive with Changed Autosomes: a Story of Mole Voles Ellobius (Mammalia, Rodentia)

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

Abstract

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 [...]

2708 17529

Open Access Case Report

Case of Lung Transplantation in a Recipient with Emphysema: Importance of Determining Alpha 1-Antitrypsin Deficiency Status for Lung Transplantation

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

Abstract

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).

1599 8960

Open Access Case Report

Living with Spondylolisthesis with (Relative) Equanimity

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

Abstract

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 [...]

2059 10130

Open Access Original Research

Emotional Freedom Techniques for Food Cravings in Overweight Adults: A Comparison of Treatment Length

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

Abstract

(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 [...]

2290 11655

Open Access Case Report

Autoimmunity in Autologous Islet Transplantation

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

Abstract

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 [...]

1945 10013

Open Access Review

The Efficacy of Mindfulness-Based Interventions on Depressive Symptoms and Quality of Life: A Systematic Review of Randomized Controlled Trials

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

Abstract

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 [...]

2306 13210

Open Access Communication

Auricular Interventions in Neurology: the Vascular Autonomic Signal Challenge

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

Abstract

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 [...]

2436 13782

Open Access Review

Regulation of Inflammatory Response in Islet Transplantation

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

Abstract

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 [...]

2112 13554

Open Access Original Research

MicroRNAs as Potential Markers for Advantageous Perfusion in a Preclinical Donation after Cardiac Death Animal Model of Oxygenated Hypothermic Machine Perfusion (HOPE)

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

Abstract

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 [...]

1584 10228

Open Access Opinion

On Objectivity in Prenatal Genetic Care

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

Abstract

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 [...]

2251 11656

Open Access Case Report

Delayed Clinically Significant Portal Hypertension after Total Pancreatectomy-Islet Auto-Transplantation

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

Abstract

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 [...]

1729 11456

Open Access Case Report

The Positive Effect of Long-Term Repetitive Transcranial Magnetic Stimulation Therapy for Mild Cognitive Impairment: Three Case Studies

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

Abstract

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 [...]

1959 13134

Open Access Original Research

A Multi-modal Intervention after Stroke: The Caregiver Experience

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

Abstract

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 [...]

2141 10882

Open Access Original Research

Haplo-Insufficiency or Knockout of the Serotonin Transporter Does not Affect Heroin Self-Administration but Decreases BDNF in the Frontal Cortex

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

Abstract

(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 [...]

1665 8969

Open Access Review

Stem Cell Strategies to Promote Islet Transplantation Outcomes

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

Abstract

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 [...]

1902 10866

Open Access Review

Healthcare Clowning: Use of Specific Complementary and Alternative Medicine for Hospitalized Children

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

Abstract

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 [...]

2497 14541

Open Access Review

Temporal Lobe Epilepsy, Stroke, and Traumatic Brain Injury: Mechanisms of Hyperpolarized, Depolarized, and Flow-Through Ion Channels Utilized as Tri-Coordinate Biomarkers of Electrophysiologic Dysfunction

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

Abstract

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 [...]

2813 14027

Open Access Review

Evolution in the Management of Invasive Fungal Infections in Liver Transplant Recipients

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

Abstract

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 [...]

1804 10699

Open Access Case Report

Dietary Supplements in Dyslipidemia

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

Abstract

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.

1997 9813

Open Access Technical Note

User-Friendly Approach to Gain Isolation of Interphase Cells for Fluorescence in Situ Hybridization

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

Abstract

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, [...]

2029 10247

Open Access Review

Models for Predicting Risk of Acute Kidney Injury after Liver Surgery

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

Abstract

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 [...]

1488 6565

Open Access Review

Non-Coding RNAs in Cutaneous Melanoma Development, Progression and Dissemination

Received: 13 March 2018;  Published: 15 May 2018;  doi: 10.21926/obm.genet.1802020

Abstract

Melanoma is a highly aggressive skin cancer with high incidence worldwide. There is growing evidence that aberrantly expressed non-coding RNAs (ncRNAs) play a role in the development, progression and dissemination of melanoma tumor cells. Among the many types of ncRNAs described in this review, the functions of micro- and long non-coding RNAs are described and related to the six hallmarks of cancer. Recently, ncRNAs discovered in body fluids have become known as one of the most promising groups of oncological bioma [...]

2095 10160

Open Access Original Research

Mindfulness Meditation in College Students to Advance Health Equity

Received: 21 February 2018;  Published: 15 May 2018;  doi: 10.21926/obm.icm.1802006

Abstract

Purpose: High levels of mindfulness correspond with some positive health behaviors such as exercise participation, fruit and vegetable intake, and effective stress management. This study provided mindfulness meditation during an academic semester to a group of predominantly minority college students derived from a population in which 77.9% of the students are considered economically disadvantaged, to assess the effects of mindful meditation on various health behaviors and mindfulness to combat avoidable health ineq [...]

2156 13480

Open Access Original Research

Leveraging Mindfulness to Build Resilience and Professional Quality of Life in Human Service Professionals

Received: 04 April 2018;  Published: 15 May 2018;  doi: 10.21926/obm.icm.1802007

Abstract

Objective: Mindfulness-based interventions (MBIs) have shown promise in cultivating resilience and are widely accepted as efficacious in the treatment of a range of psychological disorders. This paper explores the feasibility of a Mindful-Awareness and Resilience Skills Training (MARST) program to enhance mindfulness and resilience, as a means of increasing psychological well-being and alleviating burnout and compassion fatigue in human service professionals. Method: In this randomised control trial, 46 human servi [...]

2481 17201

Open Access Concept Paper

German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

Received: 24 September 2017;  Published: 28 April 2018;  doi: 10.21926/obm.genet.1802019

Abstract

On behalf of the German Society of Human Genetics, we present guidelines for molecular genetic diagnostic testing using high-throughput technology, such as next-generation sequencing (NGS). These guidelines have been formulated by an expert group and reviewed by members of the German Society of Human Genetics. Building on the existing EuroGentest guidelines for diagnostic NGS, these updated guidelines incorporate additional aspects and country-specific topics. New considerations include the introduction of a check [...]

2383 11874

Open Access Review

Islet Xenotransplantation for the Treatment of Type 1 Diabetes

Received: 25 February 2018;  Published: 25 April 2018;  doi: 10.21926/obm.transplant.1802008

Abstract

More than 10 million people worldwide suffer from type 1 diabetes mellitus (T1DM). Allogeneic islet transplantation has been established to prevent severe hypoglycemia in unstable T1DM patients although there is a serious shortage of donors. Islet xenotransplantation using porcine islets is a promising solution to this issue. Porcine islets offer several advantages over human islets, including unlimited and on-demand supplies, a higher quality of islets from healthy donors, greater safety with designated pathogen-f [...]

1979 12441

Open Access Review

How Can Acupuncture Be Used in Treating Dementia?

Received: 02 March 2018;  Published: 23 April 2018;  doi: 10.21926/obm.icm.1802005

Abstract

Background: Dementia erodes the quality of life of patients and their caregivers, and the growing dementia population threatens public finance in the health and social services. In addition to formal medical treatments, complementary and alternative medicine is applicable to dementia, in which acupuncture has become an option for prevention, remedy, and rehabilitation. Acupuncture is a traditional Chinese medical method that uses needle penetration at acupoints (specific points throughout the body which will be sti [...]

2438 13454

Open Access Editorial

Application of Additive Homeopathy in Cancer Patients

Received: 07 April 2018;  Published: 20 April 2018;  doi: 10.21926/obm.icm.1802004

Abstract

Oncology patients often suffer from the side-effects of conventional therapy, such as chemotherapy, radiation and/or surgery. Additive complementary medicine, such as homeopathy might be beneficial in the support of these patients. Several case reports as well as some studies have suggested the beneficial effects of homeopathy in cancer patients. Furthermore, homeopathy may also be helpful in improving quality of life (QoL). Homeopathic remedies also offer the advantage that they can be combined with a variety of c [...]

2074 10441

Open Access Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

Received: 10 February 2018;  Published: 19 April 2018;  doi: 10.21926/obm.genet.1802018

Abstract

Women’s reproductive autonomy, and its translation into informed free choice regarding prenatal screening, is a dominant concept in the bioethical discourse concerning prenatal screening. This discourse is based on the premise that access to information regarding the pregnancy promotes autonomous decision-making. However, studies show that the offer of prenatal screening as a routine part of pregnancy care is not supported, to a large degree, by appropriate informed consent mechanisms. This means that the implement [...]

2941 17065

Open Access Original Research

Identification and Prioritization of Causal Variants of Human Genetic Disorders from Exome or Whole Genome Sequencing Data

Received: 24 October 2017;  Published: 16 April 2018;  doi: 10.21926/obm.genet.1802017

Abstract

Background: With genome sequencing entering clinics as a diagnostic tool to detect genetic disorders, there is an increasing need for bioinformatics-based solutions that enable precise causal variant identification in a timely manner. Workflows for the identification of candidate disease-causing variants usually perform the following tasks: i) identification of variants; ii) filtering of variants to remove polymorphisms and technical artifacts; and iii) prioritization of remaining variants to provide a small set of [...]

2173 12905

Open Access Case Report

Miraculous Healings of Chronic Lyme disease, Fibromyalgia and Sarcoidosis without the Use of Pharmaceuticals or Antibiotics

Received: 09 March 2018;  Published: 12 April 2018;  doi: 10.21926/obm.icm.1802003

Abstract

While “miraculous healings” of various disease states have been scientifically reported previously, the exact mechanism, which allow for these seeming miracles or spontaneous remissions is poorly understood. [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15] By contrast, the mechanism of action underlying the “miraculous healings” in the three case studies reported herein: Sarcoidosis, Chronic Lyme disease and Fibromyalgia seems to be understood with greater clarity, as these case reports are representative of the many hundreds [...]

2366 22522

Open Access Review

Current Understanding of DNA Methylation and Age-related Disease

Received: 12 February 2018;  Published: 11 April 2018;  doi: 10.21926/obm.genet.1802016

Abstract

DNA methylation involves the covalent transfer of a methyl group to the C-5 position of the cytosine ring on a DNA strand. DNA methylation is both heritable and modifiable and can affect gene expression. In recent years, epigenome-wide association studies using high-throughput technologies have associated variation in DNA methylation levels with normal and pathological aging processes in human populations. DNA methylation patterns have been used to construct epigenetic clocks which can serve as potential biomarkers [...]

3346 49398

Open Access Editorial

The Translational Umbrella - A Novel Approach to the Study of the Biological Basis of Mental Health

Received: 20 March 2018;  Published: 29 March 2018;  doi: 10.21926/obm.neurobiol.1801008

1995 10546

Open Access Editorial

What is Geriatrics?

Received: 20 March 2018;  Published: 28 March 2018;  doi: 10.21926/obm.geriatr.1801004

Abstract

All of us are intuitively aware, and many of us explicitly aware as well, of the meaning of geriatrics as a specialty. After all, most of us practice geriatrics or we have been intimately involved with this area and we are know the reality of geriatrics. Or do we? Geriatrics is an oddly ill-defined specialty when you look at it more carefully. Some of us practice medicine, some of us practice in the social sciences, and many of us simply do our jobs day-to-day and try to get by. What we share, however, is the heart [...]

1657 9419

Open Access Review

Obesity and Non-Alcoholic Fatty Liver - Therapies in Ayurvedic Medicines

Received: 10 February 2018;  Published: 28 March 2018;  doi: 10.21926/obm.icm.1801002

Abstract

Ayurveda is an ancient Indian medicinal practice. The present review includes translational research characterizing obesity, non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). We reviewed published research on improving function through Ayurvedic medicine by searching electronic databases (Medline, Embase) using terms such as: Ayurveda, obesity, NAFLD, NASH, the effect of exercise interventions in obesity, change in body composition. We aim to (1) determine the immuno-pathology of [...]

2326 21524

Open Access Communication

Open Dialogue and the Impact of Therapist Mindfulness on the Health of Clients

Received: 28 January 2018;  Published: 27 March 2018;  doi: 10.21926/obm.icm.1801001

Abstract

The value of mindfulness for clinical staff in the mental health field has thus been increasingly recognised over recent year and thus is now culminating in the evaluation and, potential future role out, of whole system approaches like Open Dialogue that put clinician mindfulness at the heart of the model. It is anticipated that this will ultimately be for the benefit of both staff and clients of these services alike, creating improvements and improving lives, therefore, on many levels.

2186 9373

Open Access Original Research

Misinterpretation or Underestimation of the Appearance, Location, or Size of Non-bleeding Visible Vessels (Forrest Class IIa) as a Cause of Hemostasis Failure

Received: 10 December 2017;  Published: 14 March 2018;  doi: 10.21926/obm.hg.1801006

Abstract

(1) Background: Endoscopy has become the primary diagnostic and treatment technique for non-variceal upper gastrointestinal bleeding. Despite advancements in therapeutic methods and instrumentation, endoscopic hemostatic failure occurs in 10% of patients. This study aimed to analyze endoscopic findings in patients with failed hemostasis and to elucidate strategies for endoscopists and gastroenterologists to facilitate improved treatment outcomes. (2) Methods: A total of 128 patients received hemostatic treatment fo [...]

1409 9312

Open Access Original Research

Application of Clinical Next Generation Sequencing in Intensive Care Facilitates Rapid Diagnosis of Neonates with Rare Genetic Disorders

Received: 31 August 2017;  Published: 06 March 2018;  doi: 10.21926/obm.genet.1801015

Abstract

Background: Neonatal muscular hypotonia is a common clinical feature on neonatal intensive care units with a broad spectrum of etiologies. Besides more common and obvious underlying conditions like prematurity or Down syndrome many rare disorders with often poor prognosis need to be considered. Congenital brain malformations detected on ultrasound or/and magnetic resonance imaging might constitute the clinical hallmark in differential diagnosis. We report on our approach combining cerebral imaging and application o [...]

2058 11492

Open Access Review

Next Generation Sequencing in Autism Spectrum Disorder

Received: 31 August 2017;  Published: 24 February 2018;  doi: 10.21926/obm.genet.1801014

Abstract

Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next gene [...]

2244 13418

Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Abstract

Technology makes it possible to expand many of the current screening programs. Initiatives for preconception screening of carrier status of recessive diseases, prenatal screening of aneuploidies and neonatal screening were initially undertaken by targeting one or at most, a few, conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of these programs to include more disorders or markers. While inclusion of a larger number of condit [...]

1911 7821

Open Access Editorial

Special Issue: Treatment of Genetic Disease

Received: 18 January 2018;  Published: 31 January 2018;  doi: 10.21926/obm.genet.1801012

Abstract

With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic and epigenetic regulation in diseases are a major cause of disability, death, and human tragedy. Here, I discuss current knowledge about this matter including the diagnosis, counseling, treatment and management as well as some current therapeutic interventions such as gene, stem cell, epigenetic therapies and future directions in the field.

2035 14761

Open Access Review

Cardiac Allograft Vasculopathy: A Review of Risk Factors and Pathogenesis

Received: 31 August 2017;  Published: 11 January 2018;  doi: 10.21926/obm.transplant.1801007

Abstract

Heart transplant remains the gold standard therapy for patients with end stage heart disease and offers improved survival and quality of life. Significant progress has been achieved in improving one-year mortality after heart transplantation. Nonetheless, long-term graft survival has not changed significantly over the past few decades. Long term survival of heart transplant recipients is limited by chronic rejection, cardiac allograft vasculopathy (CAV), and malignancy. CAV is a major contributor for graft failure [...]

1846 15567

Open Access Editorial

Gene Therapy Comes of Age

Received: 12 December 2017;  Published: 24 December 2017;  doi: 10.21926/obm.geriatr.1704003

1715 9169

Open Access Editorial

The Fundamental Challenges in Organ Transplantation

Received: 20 December 2017;  Published: 24 December 2017;  doi: 10.21926/obm.transplant.1704006

1619 8835

Open Access Original Research

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

Received: 01 September 2017;  Published: 05 December 2017;  doi: 10.21926/obm.genet.1704011

Abstract

The study “Molecular Neuropathology 2.0” (MNP2.0) offers an integrated histo-molecular diagnosis including the detection of potential therapeutic targets for a large cohort of pediatric patients with primary CNS tumors. After obtaining parental and/or patient consent, in this study germline DNA analysis of all study subjects bridges the gap between scientific genetic analysis and medical care. The study’s workflow takes into consideration the conditions of a multicenter study, legal stipulations, as well as the nee [...]

2293 11046

Open Access Editorial

Mitochondria, Brain, Heart and Body

by Ya Wen
Received: 28 November 2017;  Published: 05 December 2017;  doi: 10.21926/obm.neurobiol.1704007

Abstract

More and more studies revealed links amongst neurological disorders, heart diseases and cancers. For example, people with subclinical cardiovascular diseases are at higher risk for Alzheimer's disease, Parkinson’s disease is associated with varied risk of cancer, Autism Spectrum Disorders and cancer have overlapping genes and molecular pathways, heart disease and cancer share common risk factors, etc. It is intriguing how are these conditions that appear to be completely different linked together.

1577 8033

Open Access Editorial

Auricular Medicine

Received: 07 November 2017;  Published: 10 November 2017;  doi: 10.21926/obm.icm.1704004

Abstract

The treatment by auricular therapy has a long history. Ear acupoint research has been advancing step by step worldwide [1-17] . The introduction of lasers into medicine brought besides the already existing stimulation with needles, electricity, pressure and liquids an additional technique to auricular acupuncture.

1924 9683

Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010

Abstract

Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected childre [...]

2261 12983

Open Access Editorial

Anemia during Direct-Acting Antiviral Regimens in Kidney Transplant Recipients with Hepatitis C

Received: 18 October 2017;  Published: 29 October 2017;  doi: 10.21926/obm.hg.1704005

Abstract

(This is review and no abstract)

1321 5542

Open Access Review

Preimplantation Genetic Screening

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

Abstract

The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue.Today it bears no doubt that blastocysts found to be uniformly aneuploid in a biopsy will fail to implant, or worse, will implant and lead to a pregnancy and birth carrying a major chromosomal abnormality, such as [...]

1833 9612

Open Access Review

The Role of Epigenetics in Developmental Programming and the Developmental Origins of Health and Disease

Received: 20 June 2017;  Published: 19 October 2017;  doi: 10.21926/obm.genet.1704008

Abstract

A number of epidemiological studies have suggested that environmental stresses, such as malnutrition during the fetal period, can induce development of metabolic disorders, such as obesity, type 2 diabetes, and hypertension, and and even psychiatric disorders in later life. This theory model is known as the Developmental Origins of Health and Disease (DOHaD) theory, in which postulates that “epigenetic memories”, involving DNA methylation, histone modifications and microRNA expression, are induced by environmental [...]

2570 20959

Open Access Review

Management of Cardiac Allograft Vasculopathy

Received: 31 May 2017;  Published: 28 September 2017;  doi: 10.21926/obm.transplant.1703005

Abstract

Cardiac allograft vasculopathy is one of the leading causes of death following the first 5 years after orthotopic heart transplantation along with late graft failure, likely secondary to undiagnosed CAV. Currently there is no single medical treatment available for this condition except modification of risk factors and immunosuppression. Retrasplantation remains the hope for this entity with some limitations.

1647 10201

Open Access Review

Prenatal Screening for Fetal Aneuploidy

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

Abstract

Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasound nuchal translucency (NT) measurement. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploidy scree [...]

2016 12354

Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

Abstract

Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...]

2164 11180

Open Access Review

Malignancy in the Lung Transplant Population

Received: 16 July 2017;  Published: 12 September 2017;  doi: 10.21926/obm.transplant.1703004

Abstract

The risk for developing a variety of malignancies is significantly elevated in the setting of lung transplantation. Malignancy remains among the three major causes of death in post-transplant recipients, and the relatively high risk of cancer development as well as metastatic aggression pose special threats to this population due to the need for continued immunosuppression. A variety of risks such as tobacco use and inflammatory lung diseases that led to the lung pathology prompting lung transplantation, in additio [...]

1381 9919

Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

Abstract

Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...]

2375 20048

Open Access Case Report

Successful Treatment of a Pregnant Woman with Chronic Active Hepatitis B using Tenofovir Disoproxil Fumarate

Received: 23 June 2017;  Published: 27 July 2017;  doi: 10.21926/obm.hg.1703004

Abstract

(1) Background: Infection with hepatitis B virus (HBV) infection during pregnancy occasionally raises concerns, including acute exacerbation and the potential for mother-to-child transmission. (2) Case Report: Here, we present a case of a female patient with a chronic HBV infection who was treated with tenofovir disoproxil fumarate (TDF) and had a normal pregnancy and delivery. Furthermore, the use of TDF, HBV vaccination and passive immunization of her child with hyperimmune hepatitis B immunoglobulin successfully [...]

992 6104

Open Access Review

Spirituality in Medical Acupuncture

Received: 02 May 2017;  Published: 20 July 2017;  doi: 10.21926/obm.icm.1703003

Abstract

Spirituality may be generally conceptualized as the precious, personal path of our apparently soulful vital energy within the context of the power of our compassionate consciousness. The body, mind and spirit encompasses a constantly inspiring vital energetic field that must be in diligent interaction and harmony in the interest of past, present and future generations. In the clinical application of the healing arts and sciences, as physicians or other dedicated health care providers of whatever nation, race, cultu [...]

1976 9010

Open Access Review

Perspective on Neurobiological and Clinical Early Indicators of Mild Cognitive Decline and Alzheimer’s Disease

Received: 17 April 2017;  Published: 09 July 2017;  doi: 10.21926/obm.neurobiol.1702006

Abstract

There is a need for early diagnosis, monitoring and treatment of Alzheimer’s Disease (AD) and Mild Cognitive Impairment (MCI). Traditional assessments of cognitive decline have been found to lack sensitivity and accuracy in differentiating varying stages of Dementia and cognitive decline as well as being time consuming in their administration. Key components of cognition namely memory and executive function have been identified as most predicative of AD status. Brief cognitive screening tools such as the Montreal C [...]

1842 9426

Open Access Review

IVIG Replacement for Hypogammaglobulinemia in Lung Transplant Patients

Received: 10 March 2017;  Published: 22 June 2017;  doi: 10.21926/obm.transplant.1701003

Abstract

After lung transplant, infection is a leading contributor to morbidity and mortality, and hypogammaglobulinemia (HGG) may be an important risk factor for many of these infections. Some reports suggest that HGG not only increases the risk of various infections, but also worsens survival. The incidence of HGG has been shown to increase after lung transplant, and may be as high as 70%. In order to mitigate this risk, intravenous immunoglobulin G (IVIG) replacement for the treatment of HGG has been utilized. However, t [...]

1856 16907

Open Access Opinion

Genes, Culture, and Human Evolution

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

Abstract

none, this is an opinion piece

1663 11994

Open Access Review

Healthcare-Related Qigong for the Prevention of Lifestyle-Related Diseases

Received: 19 February 2017;  Published: 08 May 2017;  doi: 10.21926/obm.icm.1702002

Abstract

Qigong is a form of traditional Chinese exercise combining breathing, movement, and meditation to improve fitness for the purpose of preventing disease and prolonging life. We review the clinical efficacy and underlying mechanism of the application of Qigong in the healthcare setting. In addition, we discuss topics such as the impacts on respiratory, cardiovascular function, and immune function, as well as studies of the influences on brain function and mental health. In summary, there is strong evidence of the cli [...]

2245 14336

Open Access Review

Perspectives on the Role of Endocannabinoids in Autism Spectrum Disorders

Received: 11 April 2017;  Published: 27 April 2017;  doi: 10.21926/obm.neurobiol.1702005

Abstract

Autism spectrum disorders (ASDs) are diagnosed on the basis of three behavioral features, namely, (1) deficits in social communication, (2) absence or delay in language and (3) stereotypy. The consensus regarding the neurological pathogenesis of ASDs is aberrant synaptogenesis and synapse function. Further, it is now widely accepted that ASD is neurodevelopmental in nature, placing emphasis on derangements occurring at the level of intra- and intercellular signaling during corticogenesis. At present, there is an ev [...]

1631 9885

Open Access Book Review

An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Abstract

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

1730 8639

Open Access Review

A Neurodevelopmental Perspective for Autism-Associated Gene Function

Received: 10 April 2017;  Published: 24 April 2017;  doi: 10.21926/obm.neurobiol.1702004

Abstract

Large-scale genetic sequencing studies have identified a wealth of genes in which mutations are associated with autism spectrum disorder (ASD). Understanding the biological function of these genes sheds light onto the neurodevelopmental basis of ASD. To this end, we defined functional categories representing brain development – (1) Cell Division and Survival, (2) Cell Migration and Differentiation, (3) Neuronal Morphological Elaboration, (4) Development and Regulation of Cellular Excitability, and (5) Synapse Forma [...]

2062 11543

Open Access Review

The Feasibility and Necessity of a Revolution in Geriatric Medicine

Received: 19 February 2017;  Published: 13 April 2017;  doi: 10.21926/obm.geriatr.1702002

Abstract

Currently, geriatric medicine consists mainly of palliative treatment of the disorders that characterize senile decay. This is perfectly compatible with the prevailing view that aging is the inevitable result of multiple degenerative processes that cannot be treated effectively as they are, in themselves, inevitable and irreversible. This interpretation of aging clashes with a mass of data and arguments that, conversely, indicate that aging is a specific physiological function, favoured by supra-individual natural [...]

1479 12009

Open Access Perspective

Neurobiology of Sleep and Microbiomics in Aging

Received: 22 February 2019;  Published: 12 April 2017;  doi: 10.21926/obm.neurobiol.1702003

Abstract

(1) Background: The daily rhythms of life on earth are governed by a central clock located in the hypothalamus and entrained primarily by light. By virtue of its connections to a myriad of other clocks located both in the brain and in peripheral organs and cells, this clock provides a timing signal based on the light/dark cycle by which organismal physiology and behaviour are governed. Disturbances of these natural rhythms have multiple downstream effects, frequently resulting in dysregulations of sleep and wake cy [...]

1681 14295

Open Access Editorial

OBM Transplantation—A New Hub in the Network of Transplantation Science

Received: 07 April 2017;  Published: 11 April 2017;  doi: 10.21926/obm.transplant.1701001

1165 9823

Open Access Review

Anti-HLA Antibodies in Lung Transplantation

Received: 22 February 2019;  Published: 11 April 2017;  doi: 10.21926/obm.transplant.1701002

Abstract

(1) Background: Lung transplantation is an increasingly utilized treatment for end-stage lung disease. Scarcity of organ donors limiting transplantation underscores the importance of optimal histocompatibility testing approaches to facilitate organ allocation and avoid immunologic rejection. Significant data has emerged over the past decade to define the role of alloantibodies against HLA in the pathogenesis of post-lung transplant complications. (2) Methods: Medical literature from 1996–2016 related to search term [...]

1754 14911

Open Access Original Research

IFN-Based and IFN-Free Direct-Acting Antiviral Drug Treatments for Acquired Hepatitis C Virus in Post-Transplant Recipients

Received: 08 February 2017;  Published: 06 April 2017;  doi: 10.21926/obm.hg.1702003

Abstract

Background: Hepatitis C virus (HCV) infection frequently occurs in recipients of liver or kidney transplants (LT/KT). Interferon (IFN)-based therapies are used to treat HCV, but their efficacy is low. Methods: We report 24 patients who received HCV therapy after LT/KT. Design, Setting, and Participants-Twelve LT and 12 KT recipients (median age, 59 years; 15 males; 21 serological type 1) were enrolled, of whom eight (six with LT) were treated with IFN-based therapy. Twelve received direct-acting antiviral drugs [ [...]

1103 6921

Open Access Opinion

FASD and Brain Development: Perspectives on Where We are and Where We Need to Go

Received: 14 March 2017;  Published: 23 March 2017;  doi: 10.21926/obm.neurobiol.1701002

Abstract

Maternal consumption of alcohol (ethanol) during pregnancy can lead to life-long neurobehavioral and cognitive abnormalities in the offspring, collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). Prenatal exposure to ethanol is one of the leading causes of non-genetic intellectual disability and FASD is an umbrella category that includes Fetal Alcohol Syndrome, Partial Fetal Alcohol Syndrome, Alcohol Related Birth Defects, and Alcohol Related Neurodevelopmental Disorder. Children with a history of&n [...]

1790 12487

Open Access Perspective

Perspectives on the Neurobiology of Antipsychotic Drugs in Psychiatric Disorders

Received: 22 February 2019;  Published: 14 March 2017;  doi: 10.21926/obm.neurobiol.1701001

Abstract

Antipsychotics have been a pillar in the treatment of schizophrenia since their introduction more than 60 years ago. Their variety in structures and receptor binding properties confers on them a complex clinical profile of effectiveness and risk of adverse side-effects. Although antipsychotics are best known for their therapeutic effects in schizophrenia, these are limited to the positive symptoms, with much less influence on negative symptoms or cognitive deficits. Moreover, although the newer (so-called second-ge [...]

1558 13643

Open Access Original Research

Modulation of Excitability of Spinal Neural Functions by Acupoint Stimulation Physical Therapy at LU5 (Chize) in Three Hemiplegic Patients with Cerebrovascular Disease

Received: 21 January 2017;  Published: 20 February 2017;  doi: 10.21926/obm.icm.1701001

Abstract

(1) Background: Acupoint stimulation physical therapy (ASPT) is a novel method of physical therapy that combines physical and acupuncture methods. This study aimed to examine the effect of ASPT in three hemiplegic patients with cerebrovascular disease using F-wave as a measure of the excitability of spinal neural function. (2) Methods: Subjects included three hemiplegic patients with cerebrovascular disease who presented with three types of neurological findings. All patients had moderate hypertonic muscles on the [...]

1780 9551

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