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Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal es … Zhihong Cui, Mourad Assidi, Adel M. Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani P42 Array comparative genomic hybridization approach to search genomic answers for spontaneous recurrent abortion in Saudi Arabia Alaa A Alboogmi, Nuha A Alansari, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Hasan S Jamal, Abdullraheem Rozi, Zeenat Mirza, Adel M Abuzenadah, Sajjad Karim, Mo …

Concept of natural genome reconstruction.Part 5. Analysis of changes in the lifespan of old animals after reinfusion of bone marrow cells derived from old animals and treated with hDNAgr in combination with recombinant human angiogenin.

Two series of tests were performed, on mice and rats, to assess the lifespan of old animals reinfused with bone marrow cells from old animals treated with fragmented human DNA (hDNAgr), recombinant human angiogenin, and both preparations together. Animals reinfused with untreated bone marrow cells from old animals or bone marrow cells from young animals were used as comparison groups. Using both outbred mice and CBA/Lac mice, no significant increase in the lifespan of animals reinfused with bone marrow cells treated with the hDNAgr was found compared with the group of mice reinfused with untre

Revealing G4 Structures as Drug Targets: Exploring the Potential of Novel Therapeutic Agents.

G-quadruplex (G4) structures represent noncanonical secondary formations found in DNA and RNA. Recent research reveals that G4s are abnormally enriched in various cancers, with closely linked to malignancy, metastatic potential, and prognosis. These structures have emerged as promising biomarkers for cancer with notable clinical relevance. Concurrently, investigations into compounds that selectively recognize DNA or RNA G4s as potential anticancer agents offer new avenues for early cancer diagnosis and therapeutic strategies. This review systematically analyzes the chemical structural characte

Abstracts of the 12th European Cytogenomics Conference 2019 : Salzburg, Austria. 6-9 July 2019

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… Especially in the field of human genetics, one easily finds papers claiming that banding and/or molecular cytogenetics could or should best be replaced by array comparative genomic hybridization (aCGH) and next generation sequencing (NGS) technologies. …

Chromosome 1q21 abnormalities in multiple myeloma.

Gain of chromosome 1q (+1q) is one of the most common recurrent cytogenetic abnormalities in multiple myeloma (MM), occurring in approximately 40% of newly diagnosed cases. Although it is often considered a poor prognostic marker in MM, +1q has not been uniformly adopted as a high-risk cytogenetic abnormality in guidelines. Controversy exists regarding the importance of copy number, as well as whether +1q is itself a driver of poor outcomes or merely a common passenger genetic abnormality in biologically unstable disease. Although the identification of a clear pathogenic mechanism from +1q rem

Clinical and Genomic Epidemiology of Carbapenem-Nonsusceptible Citrobacter spp. at a Tertiary Health Care Center over 2 Decades.

Carbapenem-nonsusceptible Citrobacter spp. (CNSC) are increasingly recognized as health care-associated pathogens. Information regarding their clinical epidemiology, genetic diversity, and mechanisms of carbapenem resistance is lacking. We examined microbiology records of adult patients at the University of Pittsburgh Medical Center (UMPC) Presbyterian Hospital (PUH) from 2000 to 2018 for CNSC, as defined by ertapenem nonsusceptibility. Over this time frame, the proportion of CNSC increased from 4% to 10% (P = 0.03), as did daily defined carbapenem doses/1,000 patient days (6.52 to 34.5; R2 =

Advances in microsurgery and assisted reproduction for management of male infertility.

BACKGROUND: This study examines genetic diversity among 102 registered English Bulldogs used for breeding based on maternal and paternal haplotypes, allele frequencies in 33 highly polymorphic short tandem repeat (STR) loci on 25 chromosomes, STR-linked dog leukocyte antigen (DLA) class I and II haplotypes, and the number and size of genome-wide runs of homozygosity (ROH) determined from high density SNP arrays. The objective was to assess whether the breed retains enough genetic diversity to correct the genotypic and phenotypic abnormalities associated with poor health, to allow for the elimi

Cancer evolution: mathematical models and computational inference.

Cancer is a somatic evolutionary process characterized by the accumulation of mutations, which contribute to tumor growth, clinical progression, immune escape, and drug resistance development. Evolutionary theory can be used to analyze the dynamics of tumor cell populations and to make inference about the evolutionary history of a tumor from molecular data. We review recent approaches to modeling the evolution of cancer, including population dynamics models of tumor initiation and progression, phylogenetic methods to model the evolutionary relationship between tumor subclones, and probabilisti

Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement.

Rarely, immunophenotypically immature B-cell precursor acute lymphoblastic leukemia (BCP-ALL) carries an immunoglobulin- MYC rearrangement (IG-MYC-r). This can result in diagnostic confusion with Burkitt lymphoma/leukemia and use of individualized treatment schedules of unproven efficacy. Here we compare the molecular characteristics of these conditions and investigate historic clinical outcome data. We identified 90 cases registered in a national BCP-ALL clinical trial/registry. When present, diagnostic material underwent cytogenetic, exome, methylome and transcriptome analyses. The outcomes

Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selection.

AbstractHere, we present the case for next-generation sequencing of samples from patients with multiple myeloma (MM), not only identify high-risk markers but also mutations and deletions relating to immunomodulatory drugs (IMiD), and more importantly to guide the sequencing of immunotherapy regimens in response to intrinsic antigen escape as a means of treatment resistance and relapse. This is a single-center study of CD138+ selected (n = 134) bone marrow aspirate samples from patients with smoldering MM (n = 11) and MM (newly diagnosed, n = 38; relapsed, n = 79). Samples were sequenced using

Combined Selection System to Lower the Cutoff for Plasma Cell Enrichment Applied to iFISH Analysis in Multiple Myeloma.

Multiple myeloma (MM) is a very heterogeneous disease, characterized by multiple cytogenetic aberrations on plasma cells (PC) that have been traditionally used to predict the outcome of the disease. A mayor issue on the analysis of PC is the sometimes low infiltration of these cells in the bone marrow that hampers cytogenetic studies. To solve this problem we have optimized a selection strategy based on PC immunomagnetic isolation that has allowed us to lower to 1% the minimal PC infiltration requirement without loss of purity, enabling to perform genetic analysis. In this study, we have analy

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… As a result, the application of molecular cytogenetic methods such as, comparative genomic hybridization or iFISH, the most useful clinical test for genetic aberration detection, is increasing the detection rate of chromosomal aberrations detected in MM [11] . … Frequent gains of the short arm of chromosome 9 in multiple myeloma with normal G-banded karyotype detected by comparative genomic hybridization. Am J Clin Pathol. 2004;122(6):875–882. doi: 10.1309/5KWK-P6UK-GNXX-HMYH. 6. García-Sanz R, Mateos MV, San Miguel JF. Multiple myeloma. …

Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

Primary plasma cell leukemia (pPCL) is a rare and aggressive variant of multiple myeloma (MM) which may represent a valid model for high-risk MM. This disease is associated with a very poor prognosis, and unfortunately, it has not significantly improved during the last three decades. New high-throughput technologies have allowed a better understanding of the molecular basis of this disease and moved toward risk stratification, providing insights for targeted therapy studies. This knowledge, added to the pharmacogenetic profile of new and old agents in the analysis of efficacy and safety, could

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… Molecular Classification and Prognostic Risk Stratification Genomic characterization from previously published retrospective series of PCLs, mainly based on conventional karyotyping, FISH, and array comparative genomic hybridization (aCGH) analyses, indicated a scenario of major genetic lesions that …

Enzimatic Paradox of Yeast Arginil-tRNA Synthetase: Исключительная передача Аргинина, контролируемая гибким механизмом признания tRNA.

Детерминанты идентичности необходимы для точного признания переноса РНК синтетиками аминоачил-тРНА. На сегодняшний день аргининские детерминанты в дрожжах сачаромице были выявлены исключительно in vitro и только на ограниченном числе изоприятцев trNA Arginin. В нынешнем исследовании мы выступаем за полный клеточный подход и расширяем исследования аргининских детерминант до всех four TRNA Arg изо-приемники. В более конкретном плане эта работа позволяет проанализировать актуальность нуклеотидов ТРНА на месте. 20, 35 и 36 в реакции дрожжей на аргинилацию. Мы построили 21 мутантов мутагенезом, упр

Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia.

Anemia is a condition in which red blood cells and/or hemoglobin (Hb) concentrations are decreased below the normal range, resulting in a lack of oxygen being transported to tissues and organs. Those afflicted with this condition may feel lethargic and weak, which reduces their quality of life. The condition may be manifested in inherited blood disorders, such as thalassemia and sickle cell disease, whereas acquired disorders include aplastic anemia, chronic disease, drug toxicity, pregnancy, and nutritional deficiency. The augmentation of fetal hemoglobin (HbF) results in the reduction in cli

Cyanobacterial Peptides in Anticancer Therapy: A Comprehensive Review of Mechanisms, Clinical Advances, and Biotechnological Innovation.

Cyanobacteria-derived peptides represent a promising class of anticancer agents due to their structural diversity and potent bioactivity. They exert cytotoxic effects through mechanisms including microtubule disruption, histone deacetylase inhibition, and apoptosis induction. Several peptides-most notably the dolastatin-derived auristatins-have achieved clinical success as cytotoxic payloads in antibody-drug conjugates (ADCs). However, challenges such as limited tumor selectivity, systemic toxicity, and production scalability remain barriers to broader application. Recent advances in targeted

Measurable Residual Disease Testing During Treatment with Bispecific Antibodies for Lymphoma.

The introduction of bispecific antibodies (BsAbs) has led to significant improvements in survival for patients with relapsed and refractory B-cell lymphomas. Despite these advances, there remains a significant number of patients who experience disease progression after these novel therapies. Predicting which patients may respond to certain treatments and the durability of their responses remains challenging. Measurable residual disease (MRD) has become easier to detect and quantify through the use of genomic next-generation sequencing tools and has been studied as a possible biomarker to predi

Application of Next Generation Sequencing in Laboratory Medicine.

The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation, has facilitated its wide clinical application in precision medicine. This review describes current sequencing technologies, including short- and long-read sequencing technologies, and highlights the clinical application of NGS in inherited diseases, oncology, and infectious diseases. We review NGS approaches and clinical diagnosis for constitutional disorders; summarize the application of U.S. Food and Drug Administr

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… The diagnostic rate increased to 33% with Tier 2 testing, including 119 genes and CNV analysis, using array comparative genomic hybridization [ 75 ]. The cost of targeted NGS gene panels is variable, but usually significantly lower than that of ES. …

Association of coronary artery disease related single nucleotide-polymorphisms with extreme Prakriti types: Insights from a case control study.

BACKGROUND: Coronary artery disease has well-established genetic variants but identification of susceptible ones is needed. Ayurveda stratifies people phenotypically termed as "Prakriti" to assess the risk. OBJECTIVES: The present research was aimed to identify Prakriti stratified genetic risks for CAD. MATERIAL AND METHODS: Initially, literature search was done using bioinformatics and manual-curation, to identify susceptible SNPs. Further, global-screening-array was performed to evaluate association of these polymorphisms in Prakriti stratified 200 CAD patients and 100 healthy controls. Th

Spontaneous genomic alterations in a chimeric model of colorectal cancer enable metastasis and guide effective combinatorial therapy.

Colon cancer is the second most common cause of cancer mortality in the Western world with metastasis commonly present at the time of diagnosis. Screening for propagation and metastatic behavior in a novel chimeric-mouse colon cancer model, driven by mutant p53 and β-Catenin, led to the identification of a unique, invasive adenocarcinoma. Comparison of the genome of this tumor, CB42, with genomes from non-propagating tumors by array CGH and sequencing revealed an amplicon on chromosome five containing CDK6 and CDK14, and a KRAS mutation, respectively. Single agent small molecule inhibition of

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… Molecular characterization by microarray and array comparative genomic hybridization (aCGH) analyses of such propagated libraries of tumors have demonstrated that additional tumor promoting mutations had occurred in the tumor lines affecting their growth rates, metastasis, and response to therapeutics … Spontaneous gene copy number alterations in CB42 Since CB42 was unique among our β-Catenin driven colon tumors in its ability to propagate and metastasize, we performed a series of unbiased genomic assays including arrayed comparative genomic hybridization (aCGH) and sequencing to identify spontaneous …

Integrating Artificial Intelligence, Circulating Tumor DNA, and Real-World Evidence to Optimize Hematologic Clinical Trials: Toward Adaptive and Learning Trial Designs.

The integration of emerging technologies and real-world data is transforming the landscape of hematologic clinical trials. Artificial intelligence (AI) offers remarkable capabilities for predictive modeling, patient stratification, and adaptive trial design, while circulating tumor DNA (ctDNA) provides a minimally invasive biomarker for disease monitoring, the early detection of relapse, and treatment response assessment. Concurrently, real-world evidence (RWE) complements traditional clinical trial data by capturing treatment effectiveness, safety, and patient outcomes in broader, heterogeneo