Volume 1, Issue 2, p33-70
Articles published in this issue are Open Access and licensed under Creative Commons Attribution License (CC BY NC) where the readers can reuse, download, distribute the article in whole or part by mentioning proper credits to the authors.
The Clinicopathological and Genetic Characteristics of High-grade Gliomas with Histone H3.3 G34 Mutation in Teenagers and Young adults
Chromatin is composed of nucleosomes, with each nucleosome consisting of an octamer of two copies each of histones H3, H4, H2A, and H2B. Chromatin is critical for the control of transcription, replication, DNA repair and other aspects of genomic stability.J Exp Pathol, 2020, Volume 1, Issue 2, p33-35 | DOI: 10.33696/pathology.1.006
Liposarcoma (LS) is the most common soft tissue sarcoma (20% of the tumors in adults). This neoplasm was first described by Virchow in 1857 and has been well documented thereafter. Liposarcoma is a common soft tissue malignant tumor and is often found in the lower extremities and retro peritoneum. Only about 5.6% of liposarcomas are found in the head and neck and most of these tumors arise from the soft tissues of the neck [1-3].J Exp Pathol, 2020, Volume 1, Issue 2, p45-49 | DOI: 10.33696/pathology.1.007
Acellular Dermal Matrix in Prosthetic Breast Reconstructive Surgery with Prepectoral Technique: A Literature Review
Breast cancer is the second most commonly diagnosed cancer worldwide, with an incidence of 2.088.850 and a mortality rate of 627,000. Incidence and mortality rate in Europe were 522,513 and 92,000, respectively, while in Italy accounted for 53,000 diagnoses and 12,000 deaths.J Exp Pathol, 2020, Volume 1, Issue 2, p50-59 | DOI: 10.33696/pathology.1.008
Succinate Accumulation Links Mitochondrial MnSOD Depletion to Aberrant Nuclear DNA Methylation and Altered Cell Fate
Epigenetic processes provide a mechanism for integrating metabolic inputs and translating them into various phenotypic outputs [1,2]. Indeed, epigenetic modifiers often require or are inhibited by key citric acid cycle (CAC) metabolites (e.g. succinate,J Exp Pathol, 2020, Volume 1, Issue 2, p60-70 | DOI: 10.33696/pathology.1.009
The human induced pluripotent stem cell (iPSC) technology was developed more than ten years ago and has provided important tools for the mechanistic and cellular interrogation of many diseases . To generate iPSC lines, somatic cells are reprogrammed into cells resembling embryonic stem cells by the overexpression of key transcription factors.J Exp Pathol, 2020, Volume 1, Issue 2, p36-44 | DOI: 10.33696/pathology.1.010
The nature of gene mutations induced by ionizing radiation in germ cells and transmitted to offspring remains one of the most important problems in radiation genetics of higher eukaryotes. The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA).
Karyotypic Profile of Chronic Myeloid Leukemia in Patients Diagnosed at Tertiary Level in Afghanistan
Balanced translocation resulting in fusion of the Abelson gene (ABL1) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. The resulting BCRABL 1 fusion gene is both the diagnostic as well as therapeutic target of CML. The first agent with tyrosine kinase inhibitor activity that was licenced in 2000 for treatment of CML patients, was Imatinib, gradually followed by multiple agents with higher efficacy.
NOBOX is an ovarian specific transcription factor that plays an important role in follicular growth and survival. Nineteen NOBOX variants have been previously associated with premature ovarian insufficiency (POI). Disease severity in patients with heterozygous and homozygous mutations largely overlap however, hampering genotype-phenotype correlations. We recently reported the first case of biallelic truncating mutations (NM_001080413.3 (NOBOX):c.826C>T, p.(Arg276*) and NM_001080413.3(NOBOX):c.1421del, p.(Gly474Alafs*76)) of NOBOX in two Belgian sisters with POI.
Although NK cells are recognized as effector lymphocytes of the innate immune system, they also regulate the adaptive immune response by releasing inflammatory cytokines and developing immunological memory. Unlike other lymphocytes such as T or B cells, NK cells do not express rearrangeable, antigen-specific receptors.
The transient receptor potential mucolipin 1 (TRPML1) is an endolysosomal channel belonging to the TRP family. Clinically, mutations of TRPML1 have been responsible for a severe lysosomal storage disorder called mucolipidosis type IV.
In order to implement the knowledge of cancer to monitor its evolution and setting, in the last decade, new minimally invasive and repeatable samples collection have been developed such as liquid biopsy.
Synthetic Lethal Drug Combinations Targeting Proteasome and Histone Deacetylase Inhibitors in TP53-Mutated Cancers
Tumors harboring mutations in certain oncogenes are often dependent on activation of certain pathways which becomes essential for the survival of the cancer cells. This condition is formally known as synthetic lethality, a state when simultaneous loss of two genes is lethal to a cancer cell, while the loss of the individual genes is not.
Appropriate medicinal drugs can save life of any patientat risk with high mortality and morbidity. All ongoingcosts and benefits are covered mainly by the health insurance, the pharmaceutical, and alternative medicine industry.
Breast cancer is the second most common cancer worldwide, affecting nearly one in eight women. Accurate cancer staging is essential for determining the patient’s prognosis and for choosing the appropriate treatment.
However, the entire coagulation cascade is dysfunctional, in progressed chronic diabetes and cancer patients.
Fatty acid oxidation disorders unfortunately can result in the sudden unexplained death of infants. Mitochondrial trifunctional protein (MTP) deficiency is one such disease where long-chain fatty acids cannot be fully oxidized through beta-oxidation which, can lead to cardiac arrythmias in an infant.
Primary Temporal Bone Meningioma Presenting as Chronic Mastoiditis and Sigmoid Sinus Thrombosis: Report of a Case with Literature Analysis
Meningiomas are common, primary brain tumors, accounting for up to 30% of intracranial neoplasms; they are usually slow-growing and benign . Primary extra cranial meningiomas are rare, and approximately 2% of meningiomas are located extra cranially . Furthermore, primary extra cranial meningiomas of the ear and temporal bone are exceedingly rare .
This commentary refers to our published article, as highlighted in this article most common gene causing breast cancer in the population living in the United Arab Emirates is BRCA2 followed by BRCA1. This is the first publication discussing about clinical and pathological features of breast cancer in woman with a positive genetic mutation in the United Arab Emirates.
Molecular Biology for BCR-ABL1 Quantification for Chronic Myeloid Leukemia Monitorization and Evaluation
Chronic Myeloid Leukemia (CML) is a clonal disorder originated by a pluripotent hematopoietic stem cell, which presents the translocation t(9;22) (q34;q11) in 90% of the cases.
Tyrosine kinase-type cell surface receptor HER2- targeted therapies have dramatically improved breast cancer patients’ outcome compared to conventional chemotherapies. In the clinic, HER2 monoclonal antibody trastuzumab with chemotherapy represent the gold standard treatment of HER2-positive breast cancer.
Accidental admitting and using (un-) known drugs might manipulate health and/or disease(s) of a subject in a positive (healing) and/or negative way (increased mortality and morbidity rate).
Insulin resistance has been studied extensively at systemic, organ, tissue and cellular and molecular levels. Overnutrition plays an essential role in the development of chronic metabolic diseases such as obesity and type 2 diabetes. For subjects without genetic defects, the development of insulin resistance and type 2 diabetes is a graduate process. How the transition from an insulinsensitive state to an insulin-resistant state occurs, and what the roles of nutrients are in the process have not been fully understood. Here, we try to summarize the current understanding of insulin-regulate gene expression in the liver, and describe a phenomenon of hepatic insulin resistance at gene expression (HIRAGE), which may be linked to overnutrition.
Breast Cancer is the most regularly diagnosed type of cancer in women in the world, making up on its own 25% of all cases, or nearly 2 million new cases in 2018, and 15% of all cancer related deaths, or around 626,700 deaths for that same year.
In 2020 we published a series of 18 patients who underwent neoadjuvant chemotherapy (NACT) and vaginal radical trachelectomy (VRT) as a fertility sparing alternative in stage 1B2 cervical cancer.
At present, breast cancer is more frequently diagnosed in women than in men. According to global cancer statistics, each year more than 1,675,000 women are diagnosed and more than 500,000 of them die. Some subtypes of breast cancer have been described.
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