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 Evelyne El Masri  and Tat-Hean Gan

Received: 28 May 2020;  Published: 27 August 2020;  doi: 10.21926/rpm.2003020

Carbon fibre reinforced polymer (CFRP) systems as sheets or plates are commonly used to strengthen and retrofit damaged reinforced concrete beams. In general, the bond between the FRP element and concrete defines the effectiveness of the externally bonded FRP materials. In most cases, the interface bonding behaviour is usually tested via static loading conditions. In this paper, the bonding is verified under dynamic conditions. Wave propagation is modelled in delaminated CFRP strengthened reinforced concrete beam. [...]

by Krisztian Kasos  , Luca Csirmaz  , Fanni Vikor  , Szabolcs Zimonyi  , Katalin Varga  and Anna Szekely

Received: 07 February 2020;  Published: 01 April 2020;  doi: 10.21926/obm.icm.2002017

Hypnosis has proven to be an effective treatment in disorders that affect the autonomic nervous system (ANS). However, the studies investigating the nature of its effect on the ANS have reported contradictory results. Measurement of electrodermal activity (EDA) is an objective way to assess the activity of the sympathetic branch of the ANS. We aim to elucidate the effects of hypnosis on EDA. Here, we report the results of two studies, both investigating the psychophysiological effects of hypnosis.In the first exper [...]

by Aleeha Muzaffar  , Usman Arif  , Faheem Akram  , Fatima Batool  , Sameera Hassan  and Bushra Rashid

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171

Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They cause the buildup of reactive oxygen species (ROS), which leads to cellular damage in a variety of subcellular compartments in plants. The metabolic rate of ROS is criti [...]

by Mohammad Shanawar Khan  and Shohel Amin

Received: 15 May 2022;  Published: 04 August 2022;  doi: 10.21926/rpm.2203013

This study examines the chemical compositions of eggshell powder (ESP) and lime as the soil stabilisers and compared with the compositions of cement and fly-ash to understand the optimal distribution of chemical stabilisers maximising the bearing capacity and structural integrity of subgrade soil. The different proportions of eggshell powder (ESP) (2%, 4%, 6% and 8% of total soil mass) were mixed with a fixed proportion of lime (6% of total soil mass) to analyse the optimum proportion of eggshell maximising the soi [...]

by Nilam C. Dige  , Chandrama S. Randive  , Omkar S. Tamhane  , Rushikesh S. Ghorpade  , Sanjay R. Kale  and Prasad G. Mahajan

Received: 03 December 2022;  Published: 12 March 2023;  doi: 10.21926/cr.2301011

Keeping the green chemistry approach in mind we have synthesized a novel morpholine-based ionic liquid [NBMMorph]+Br-. The structure of Ionic liquid was confirmed by spectral techniques viz. IR, 1H NMR, and 13C NMR, analysis. The synthesized novel IL [NBMMorph]+Br- was utilized to prepare 1,2,4-triazolidine-3-thiones of biological significance. The [NBMMorph]+Br- IL shows excellent catalytic activity, and a simple filtration technique can separate the thiazolidinedione products. The structure of the synthesized com [...]

by Theresa Mayo  , Barbara Schuster  , Anna Ellmann  , Manfred Schmidt  , Rainer Fietkau  and Luitpold V. Distel

Received: 27 July 2018;  Published: 26 June 2019;  doi: 10.21926/obm.genet.1902082

Background: It is well known that radiosensitivity varies substantially from individual to individual. This may influence the tumor response and also cause side effects in normal tissues following the radiotherapy treatment for cancers. Therefore, we aimed to analyze the sensitivity of a lung cancer cohort to see whether patients display similar radiosensitivity distribution as compared to healthy individuals. Methods: Blood samples of healthy individuals (n = 244) and a small group of lung cancer patients (n= 38) [...]

by Andrew Sluyter

Received: 07 March 2021;  Published: 24 August 2021;  doi: 10.21926/aeer.2103020

This project demonstrates how to use existing syntheses of many decades of historical social science research to produce empirically derived land-use maps in a GIS for large regions for a specific target year at a resolution appropriate to the calibration of existing anthropogenic land-cover change (ALCC) models. Disagreement among the outputs of various ALCC models results from differing estimates of population and assumptions about how much food a given population requires and the productivity per unit area of va [...]

by Hanane Merhmi  , Maria Zerkaoui  , Abdelhafid Natiq  , Aziza Sbiti  , Thonas Liehr  and Abdelaziz Sefiani

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085

Background: A report of two new Moroccan cases with polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14. Methods: Conventional karyotype and MULTI-FISH. Results: +del(14)(q21.1) in the first case and +del(14)(q21.2) in the second. Conclusions: Constitutional partial trisomy 14 has an expanded clinical spectrum as one case from the literature was associated with gonadal tumor development. Similar cases, including the ones reported here, need to be carefully fo [...]

by Avneet K. Mangat  and Georg M. Schmölzer

Received: 07 June 2019;  Published: 20 August 2019;  doi: 10.21926/obm.icm.1903051

The incidence of Neonatal Abstinence Syndrome (NAS) is increasing due to more mothers using illicit drugs. This results in an increase in costs and resources for the healthcare system. Newborns with NAS might experience withdrawal symptoms that can cause pain, distress, and may potentially increase the risk of future health complications. It is therefore important to find effective treatments that can alleviate NAS. Various non-pharmacological treatments are used in conjunction with pharmacological treatments to re [...]

by Samuel Brennan  , Matthew Keon  , Zheng Su  , Bing Liu  , Xiao Min Song  , Thiri Zaw  , Matthew McKay  , Donna Pascovici  and Nitin K. Saksena

Received: 21 August 2020;  Published: 29 March 2021;  doi: 10.21926/obm.geriatr.2101164

There are no curative strategies for ALS, and as a result the alternative therapies are gaining ground, in particular the stem cell-based therapies which hold a promising future. Here we describe an ALS patient, who by choice, received allogeneic human cord-blood derived multipotent stem cells (MSC) intravenously and intrathecally. This is the first snapshot of pre-and post-stem cell transplantation in an ALS patient through transcriptomic, epigenomic, and proteomic follow-up elucidating the effect of stem cells in [...]

by Behzad Foroutan

Received: 14 January 2023;  Published: 31 May 2023;  doi: 10.21926/obm.icm.2302023

Aging is a stage of the natural life cycle. It is a set of natural and coordinated growth changes all organs and body systems undergo to burnout. It is impossible to determine the exact time of old age for two reasons. First, the aging process is different for humans due to individual, hereditary factors. Second, aging has a set of physiological, psychological and, social factors. This review aimed to gather appropriate clinical information and facts for clinicians when practicing heart medications in elderly patie [...]

by Jeffrey P. Brosco  , Talia Holzman Castellands  and Adriane Gelpi

Received: 22 August 2021;  Published: 21 January 2022;  doi: 10.21926/obm.genet.2201146

Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in the region. We found trends suggesting that the decrease in infant mortality may be a prerequisite to investing in nationwide screening for rarer conditions. We also no [...]

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 Elisabeth Goad

Received: 06 March 2022;  Published: 04 January 2023;  doi: 10.21926/obm.icm.2301002

Compassion-Focused Therapy is an integrative therapeutic model with a wealth of evidence behind its efficacy. Its accessibility leads it to be a helpful therapeutic modality for the intellectual disability population. Its ability to aid the understanding of the person, us as clinicians, and the wider context around us give a depth of understanding not prioritised across all therapeutic models. This article explores Compassion-Focused Therapy in the context of working alongside people with intellectual disabilities. [...]

by Efstathios E. Michaelides

Received: 19 April 2021;  Published: 10 September 2021;  doi: 10.21926/jept.2103040

The impending adverse effects of Global Climate Change encourages the substitution of fossil fuels with non-carbon sources for electricity generation. However, while fossil fuel power plants may generate electric power at demand, the most abundant renewable energy sources-wind and solar-are intermittent or periodically variable. This necessitates the development of adequate energy storage at the utility/grid level. Using actual data for the hourly energy demand in the ERCOT electricity grid, this study examines the [...]

by Gerald Schlaf  , Jakob Kehlen  , Anja Wahle  , Diana Mauer  and Wolfgang Altermann

Received: 26 January 2021;  Published: 02 June 2021;  doi: 10.21926/obm.transplant.2102142

The specification of anti-human leukocyte antigen (HLA) antibodies is an important task for patients awaiting kidney allografts. Especially the patients immunized in previous transplantations, transfusions, or pregnancies must be carefully observed, since grafting patients with HLA antigens/phenotypes recognized by their pre-formed antibodies are the main cause of harmful hyperacute and acute rejection. The complement-dependent lymphocytotoxicity-based de facto (physical) crossmatching (CDC-CM) has thus been implem [...]

by Gary Stanton

Received: 22 March 2019;  Published: 04 June 2019;  doi: 10.21926/obm.icm.1902034

A 16 year old girl was evaluated for intractable hiccups for 6 six months, with a prior negative clinical and laboratory evaluation, and without any improvement with a variety of folk and medicinal therapies. A single treatment session of auriculotherapy produced a full clinical remission.

by Amit Ahlawat  , Tarun Kumar Dhiman  , Pratima R. Solanki  and Pawan S. Rana

Received: 24 July 2022;  Published: 03 November 2022;  doi: 10.21926/cr.2204039

Organic compounds are one of the most severe pollutants occurring in the environment. Hence, it is important to remove these compounds from the environment through remediation processes such as photocatalysis. The present study investigated the photocatalytic degradation of p-nitrophenol (NP) and phenol red (PR) using a cerium oxide-titanium oxide nanocomposite (CeO2-TiO2nc) under UV light. CeO2-TiO2nc was synthesized using the co-precipitation method. An X-ray diffraction (XRD) analysis confirmed the phase purity [...]

by Shih-Ang Hsu

Received: 16 April 2021;  Published: 16 June 2021;  doi: 10.21926/jept.2102025

During a tropical cyclone (TC) worldwide, the Regional and Mesoscale Meteorological Branch (RAMMB) of NOAA/NESDIS (http://rammb.cira.colostate.edu/) issues real-time TC surface wind analyses. The purpose of this article is to provide value-added estimations of several meteorological and oceanographic (met-ocean) parameters including overwater friction velocity and turbulence intensity, variation of the wind speed with height, significant wave height, peak or dominant wave period, wind-driven currents and wind-stres [...]

by Edwin Meresh  , Clinton Korneffel  , Bavani Rajah  and Ryan Bergren

Received: 23 December 2020;  Published: 23 March 2021;  doi: 10.21926/obm.neurobiol.2101089

Catatonia can occur in patients diagnosed with schizophrenia and bipolar disorder and malignant catatonia is life threatening. Anti-psychotic medications should be discontinued during acute phase of catatonia. Anti-psychotic discontinuation in catatonia is a challenge in patients maintained on long-acting injectable antipsychotics because of the extended release. Case report: We present a case of malignant catatonia developed in a patient with history of schizophrenia and developmental delay. Symptoms lasted severa [...]

by Masahiro Sato  , Issei Saito  , Eri Akasaka  and Emi Inada

Received: 11 October 2020;  Published: 10 March 2021;  doi: 10.21926/obm.genet.2101126

Direct colony cloning of adherent mammalian cells using rings or dilution cloning has been used frequently for obtaining stable transfectants after gene delivery. As an alternative to these methods, successful isolation of the cells in a single colony is possible by placing a trypsin-immersed small paper disk onto the colony and subsequently picking up the paper with the assumption that it carries the trypsinized cells. However, the cloning success using this technique largely relies on the cell type used. In the p [...]

by Divya B. Mella  , Josie Sewell  and Edward Pan

Received: 12 October 2018;  Published: 01 November 2018;  doi: 10.21926/obm.neurobiol.1804014

Objective: To report three cases of refractory prolactinomas treated with Temozolomide (TMZ). Background: Prolactinomas account for 40% of pituitary adenomas. Dopamine agonists (DA) are the first line of treatment followed by surgical resection and radiation. TMZ is an oral chemotherapeutic agent used in gliomas, which has been given to patients with prolactinomas refractory to conventional treatments. Methods: Retrospective chart review was conducted for refractory prolactinoma patients treated between 2008 and 20 [...]

by Tran X Phuoc  and Mehrdad Massoudi

Received: 28 October 2021;  Published: 22 December 2021;  doi: 10.21926/jept.2104050

To store CO2 in geological reservoirs, expansion valves have been used to intentionally release supercritical CO2 from high-pressure containers at a source point to lower-pressure pipelines and transport to a selected injection site. Using expansion valves, however, has some shortcomings: (i) the fluid potential, in the form of kinetic energy and pressure which can produce mechanical work or electricity, is wasted, and (ii) due to the Joule-Thomson cooling effect, the reduction in the temperature of the released CO [...]

by Alexandria J Coughlan  , Kendall R. McEachron  , Mariya E. Skube  , Sydne Muratore  , Melena D. Bellin  and Greg J Beilman

Received: 29 October 2018;  Published: 24 January 2019;  doi: 10.21926/obm.transplant.1901042

The current predominant location for allo- and auto-transplantation of islets is the liver. Despite the historical success of this site, recent studies have revealed multiple disadvantages. Portal hypertension, portal vein thrombosis, bleeding, low oxygen tension, instant blood mediated inflammatory reaction, inadequate alpha cell function, and delays in neovascularization are factors that continue to drive researchers to explore alternative sites for islet transplantation. Factors of an optimal site include: capac [...]