02 - LIDSEN Publishing Inc.丨The Open Access Publisher

Volume 3,Issue 2

Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

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

Abstract

Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if compared to a healthy individuals and a rectal cancer patients cohort. Methods: Blood samples of 282 individuals were irradiated ex vivo and chromosomes # 1, 2 and 4 were stained by the 3-color fluorescen [...]

Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Abdulsamad Wafa ,

Manar As’sad ,

Thomas Liehr ,

Adnan Ikhtiar and

Walid AL -ACHKAR

Received: 14 August 2018; Published: 20 June 2019; doi: 10.21926/obm.genet.1902081

Abstract

(1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenetically detectable structural or numerical chromosomal abnormalities are detected in ~50% of ALL cases. Such aberrations have a prognostic significance. High hyperdiploidy (51–65 chromosomes, HeH) is a [...]

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

Laurence Pougnet ,

Gilles Nevez and

Solène Le Gal

Received: 17 December 2018; Published: 22 May 2019; doi: 10.21926/obm.genet.1902080

Abstract

Pneumocystis pneumonia (PCP) is still the most frequent AIDS-defining disease in developed countries and also concerns patients with other immunodeficiencies not associated with HIV. Experimental studies on rodent models carried out in the early eighties have showed that Pneumocystis sp. can be transmitted by the airborne route. Unfortunately, this mode of acquisition and transmission has long been ignored by physicians, specifically because PCP in immunosuppressed patients was considered to res [...]

Open Access Review

The Changed Transcriptome of Muscular Dystrophy and Inflammatory Myopathy: Contributions of Non-Coding RNAs to Muscle Damage and Recovery

Boel De Paepe

Received: 28 February 2019; Published: 16 May 2019; doi: 10.21926/obm.genet.1902079

Abstract

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. To this complex process of demolition and rebuilding, non-coding RNAs actively participate. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in the hereditary muscular dystrophies and the idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding R [...]

Open Access Review

Pneumocystis Species Co-evolution: State-of-the-Art Review

Christine Demanche ,

Jacques Guillot and

Magali Chabé

Received: 22 February 2019; Published: 15 May 2019; doi: 10.21926/obm.genet.1902078

Abstract

At the end of the 20th century, the notion of a unique species in the genus Pneumocystis (i.e. Pneumocystis carinii) was challenged and our understanding of the natural history of pneumocystosis was drastically changed. It is now accepted that the Pneumocystis genus comprises multiple stenoxenic biological entities that are widely distributed in ecosystems, airborne transmitted and closely adapted to the mammalian species they colonize. This article provides an opportunity to review one of the a [...]

Open Access Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Hagit Daum ,

Simcha Yagel and

Mordechai Shohat

Received: 11 March 2019; Published: 15 May 2019; doi: 10.21926/obm.genet.1902077

Abstract

Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy. We describe a case of multiple non-specific fetal findings with the eventual diagnosis of fetal Kabuki syndrome by exome sequencing (due to a deleterious mutation [...]

Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

Yuri B. Yurov ,

Svetlana G. Vorsanova and

Ivan Y. Iourov

Received: 06 February 2019; Published: 30 April 2019; doi: 10.21926/obm.genet.1902076

Abstract

The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neurodevelopment, neurodegeneration and aging of the central nervous system. Regardless of achievements in somatic cell (single-cell) genomics, there is still no consensus on the amounts of chromosomally [...]

Open Access Editorial

Epigenetics is Here to Stay

Marcel Mannens

Received: 24 April 2019; Published: 30 April 2019; doi: 10.21926/obm.genet.1902075

Abstract

none

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Rita Payan-Carreira

Received: 30 December 2018; Published: 29 April 2019; doi: 10.21926/obm.genet.1902074

Abstract

In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rar [...]

Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Racha El-Hajj Ghaoui ,

Dorothy Hung and

Bhavna Padhye

Received: 24 December 2018; Published: 17 April 2019; doi: 10.21926/obm.genet.1902073

Abstract

Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chromosomal aberration in [...]

Open Access Review

RNA Editors and DNA Mutators: Cancer Heterogeneity Through Sequence Diversification

Rafail Nikolaos Tasakis ,

F. Nina Papavasiliou and

Rita Shaknovich

Received: 03 December 2018; Published: 08 April 2019; doi: 10.21926/obm.genet.1902072

Abstract

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation till metastasis, the tumor mutational burden (TBM) plays a prominent role in disease progression for the vast majority of cancer types. Heterogeneous mutational loads or genetic heterogeneity not only between individuals, but also between tumor cells, are causal to transcriptomic and proteomic discrepancies and to phenotypic diversity. In addition to mut [...]

Open Access Review

Molecular Mechanisms of Canine Cancers

Jennie Cao ,

Valentina L Kouznetsova and

Igor F Tsigelny

Received: 30 January 2019; Published: 01 April 2019; doi: 10.21926/obm.genet.1902071

Abstract

Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of these share marked similarities with their human counterparts. Although canines are afflicted with many of the same types of cancers as humans, the genetic basis behind these cancers are not as well understood. Thus, the aim of this study is to elucida [...]

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