03 - LIDSEN Publishing Inc.丨The Open Access Publisher

Volume 7,Issue 3

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Ashley Lahr ,

Nadene Henderson ,

Lee Williams ,

Georgianne Arnold and

Damara Ortiz

Received: 14 June 2023; Published: 25 September 2023; doi: 10.21926/obm.genet.2303194

Abstract

Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn scree [...]

Open Access Research Article

Arginine and Histidine-modified Layered Double Hydroxides Facilitate Transgene Expression in Cancer Cells in Vitro

Nirasha Nundkumar ,

Sooboo Singh and

Moganavelli Singh

Received: 14 June 2023; Published: 21 September 2023; doi: 10.21926/obm.genet.2303193

Abstract

Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene expression. The LDHs were characterized using X-ray diffraction (XRD), transmission electron microscopy (TEM), and nanoparticle tracking analysis (NTA). [...]

Open Access Short Review

Normal and Aberrant Muscle Tissue Healing, Learning from Health and Disease

Matthew Kostek and

Siyu Liu

Received: 28 March 2023; Published: 19 September 2023; doi: 10.21926/obm.genet.2303192

Abstract

Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance causes significant damage, skeletal muscle, along with a precisely choreographed response from the immune system, can regenerate. Very few pathologi [...]

Open Access Review

Secondary Findings of Newborn Screening

Hana Alharbi and

Miao He

Received: 16 April 2023; Published: 31 August 2023; doi: 10.21926/obm.genet.2303191

Abstract

The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry technology into the program. Significant differences in the diseases screened by NBS were noted between programs in United States. Therefore, the recommended uniform screening panel was developed in 2 [...]

Open Access Review

Newborn Screening for Severe Combined Immunodeficiency

Christin Deal ,

Kara Coffey and

Hey Chong

Received: 02 June 2023; Published: 04 August 2023; doi: 10.21926/obm.genet.2303190

Abstract

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process of T-cell receptor (TCR) rearrangement and is the target of the quantitative PCR screen on Guthrie cards. Low TRECs are a marker of low naive T c [...]

Open Access Research Article

The Use of Transgenic Resistant Plums in Transgrafting Fails to Confer Plum Pox Virus Resistance in Prunus

Michel Ravelonandro and

Pascal Briard

Received: 16 January 2023; Published: 25 July 2023; doi: 10.21926/obm.genet.2303189

Abstract

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment gre [...]

Open Access Review

Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Sandra D.K. Kingma ,

An Jonckheere ,

Laurence Roosens and

François Eyskens

Received: 31 March 2023; Published: 24 July 2023; doi: 10.21926/obm.genet.2303188

Abstract

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in severely affected MPS I patients. Neurocognitive manifestations are typically limited in more attenuated MPS I, but patients may still suffer from severe somatic and bone manifestations. Severe MPS I p [...]

Open Access Research Article

An Efficient Method for Micropropagation of Red-List Herbaceous Plant Species (Hedysarum cretaceum)

Vasiliy A. Chokheli ,

Semyon D. Bakulin ,

Olga Yu. Ermolaeva ,

Vishnu D. Rajput ,

Anatoly S. Azarov ,

Arpna Kumari ,

Viсtoriya V. Stepanenko ,

Anastasia A. Bushkova ,

Pavel A. Dmitriev ,

Marcos Edel Martinez-Montero and

Tatiana V. Varduni

Received: 11 November 2022; Published: 20 July 2023; doi: 10.21926/obm.genet.2303187

Abstract

Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with 96% alcohol (2 min) and burned (1 sec) through a burner flame. Murashige and Skoog (MS [...]

Open Access Research Article

An Evidence of Drug Repurposing for COVID-19 Pandemic Based on In silico Investigation from Phenolic Derivatives of Silybum Marianum Against SARS-Cov-2 Proteins

Swaraj Mohanty ,

Soumya Lipsa Rath ,

Poornima Sharma and

Yasmin Ahmad

Received: 11 January 2023; Published: 04 July 2023; doi: 10.21926/obm.genet.2303186

Abstract

The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression and disease transmission among the population. Hence, we implemented pharmacoinformatics approaches to facilitate the drug discovery by [...]

Open Access Review

A Narrative Review of the TP53 and Its Product the p53 Protein

Behzad Foroutan

Received: 02 January 2023; Published: 03 July 2023; doi: 10.21926/obm.genet.2302185

Abstract

The main purpose of this paper was to generate a narrative review related to the current knowledge of the TP53 gene and its product, the p53 protein. It was also attempted to elucidate the different p53 reactivation strategies of great interest, as various small molecules are being studied to reactivate mutant p53. PubMed and ScienceDirect were searched for p53, mutant p53, and wild-type p53 limited by the title filter through the end of 2022. The collected artic [...]

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