by Tobias Geis  , Ute Hehr  , Roland Brandl  , Saskia Herbst  , Hugo Segerer  , Michael Melter  and Sophie Hinreiner

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

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 [...]

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 Vidhula R Ahire  , Amit Kumar  , Sushma Bhosle  and Kaushala Prasad Mishra

Received: 22 September 2020;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102129

Ellagic acid (EA) is a polyphenol found in grapes, pomegranates, walnuts, etc. exhibits anti-cancer properties. The current study was conducted to understand the radiosensitizing role of EA on HeLa cells. Monotherapy of EA and radiation was initially studied on HeLa cells. The addition of EA before the radiation treatment subsequently made DNA more susceptible to damage thereby developing DNA beaks, which are known to be lethal for cell survival. This was evaluated by performing comet and γ-foci formation ass [...]

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 Michael P. Cary  , Valerie A. Smith  , Megan Shepherd-Banigan  , Jennifer H. Lindquist  , Jennifer G. Chapman  , Susan N. Hastings  and Courtney H. Van Houtven

Received: 22 February 2019;  Published: 18 April 2019;  doi: 10.21926/obm.geriatr.1902049

Background: Moderator analyses may be helpful for evaluating intervention effects. The objective of this study was to evaluate whether the effect of a caregiver skills training intervention – Helping Invested Families Improve Veterans' Experience Study (HI-FIVES) – on care recipient outcome and caregiver outcome is moderated by the veteran’s risk for hospitalization or level of functional impairment. Methods: Secondary data analysis of HI-FIVES. Outcomes included veteran days in the community (cumulative days in th [...]

by Ron Hochstenbach  , Martin Poot  and Thomas Liehr

Received: 15 November 2016;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701002

Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...]

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 Dean M. Cordingley  and Stephen M. Cornish

Received: 30 May 2022;  Published: 07 October 2022;  doi: 10.21926/obm.geriatr.2204206

Myokines are cytokines secreted from muscle during contraction and are implicated in autocrine, paracrine, and endocrine regulation of biological systems. It is postulated that myokines contribute to skeletal muscle adaptations in response to resistance exercise. Exercise, including resistance exercise, is an important factor in the management of maintaining skeletal muscle strength, mass, and function with aging. Sarcopenia is exacerbated with increased age and therefore, it is important to understand the potentia [...]

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 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 [...]