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Jul 2024
Abdelhak KiouahCorresponding author
Vitamin D deficiency is known to affect bone healing 1. In this case report, the potential link between vitamin D, calcium, and phosphorus deficiency and periapical lesions is explored, offering fresh insights into the complex relationship between systemic health and dental pathology. This pathology…
Mar 2024 DOI 10.14302/issn.2689-4602.jes-24-4956
B.F. ChadovCorresponding author
A new type of mutations-dominant lethals with a facultative manifestation -were discovered in D. melanogaster in 2000. These mutations were named conditional mutations. Under restrictive genetic conditions, the mutations manifest themselves as dominant lethals, whereas dominant lethality disappears…
Mar 2024 DOI 10.14302/issn.2997-2108.jcc-23-4838
Konul S. MardanovaCorresponding author
Among the reproductive cancers cervical cancer has special place, because the second most frequent cause of cancer-related death among women worldwide. The studies suggested that the PI3K/mTOR/AKT signaling pathway is associated with certain reproductive tumors. A lot of research is ongoing for unde…
Jan 2024 DOI 10.14302/issn.2574-4496.jtc-23-4835
Abbas Hussein Saleh HusseinCorresponding author
The prevalence of thyroid cancer is rapidly increasing worldwide, majorly due to overdiagnosis and overtreatment methods of differentiated thyroid cancer. The emergent and potent preclinical models, high-throughput molecular techniques, and genetic expression microarrays have delivered deeper insigh…
Dec 2023 DOI 10.14302/issn.2324-7339.jcrhap-23-4634
Alfred MakuraCorresponding author
Introduction Human Immunodeficiency Virus (HIV) remains a persistent global public health challenge. In 2020, approximately 37.9 million individuals were living with HIV globally, including 1.7 million children <15 years old, with a global HIV prevalence of 0.8% among adults. A larger portion of peo…
Sep 2023 DOI 10.14302/issn.2574-4496.jtc-23-4722
Patrick J. ConwayCorresponding author
Background Patients with distant metastatic Medullary Thyroid Carcinoma (MTC) have an estimated 40% ten-year survival rate. Gain of function mutations in the REarranged during Transfection or RET gene in MTC can result in an aggressive phenotype resistant to traditional therapy. In this case report,…
Aug 2023
Bayan AlmabadiCorresponding author
DADA2 (deficiency of adenosine deaminase type 2) is an autoinflammatory autosomal recessive disease resulting from biallelic loss of function mutations in ADA2 gene. Clinical presentation and age of onset vary widely even among related patients, and variability of symptoms and severity manifestation…
Mar 2023 DOI 10.14302/issn.2641-5518.jcci-23-4506
Anu PartanenCorresponding author
Limited data exist on the mechanisms promoting clonal expression of BCR-ABL1 cells in various myeloproliferative disorders. We present a patient whose Janus Kinase (JAK) 2 V617F-negative idiopathic myelofibrosis (IMF) transformed to Philadelphia-positive chronic myeloid leukemia (CML). A 55-year-old…
Jun 2022 DOI 10.14302/issn.2470-5020.jnrt-22-4217
Jeffrey O. HendersonCorresponding author
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by mutations in the HEXA gene, which encodes the ɑ subunit of the enzyme β-hexosaminidase A. Lacking this key enzyme in GM2 ganglioside catabolism, individuals who are homozygous for HEXA mutations suffer from abnormal accumulation…
May 2021 DOI 10.14302/issn.2690-4721.ijcm-21-3835
Milagrosa MontesCorresponding author
Objective Real-time surveillance of SARS-CoV-2 variants of concern (VOC) is of essential public health importance. Rapid Antigen Detection Tests (RAgDT) have become first-line COVID-19 diagnostic methods in many regions, but this strategy can hamper the surveillance of the virus variants due to thei…
May 2021 DOI 10.14302/issn.2689-4602.jes-21-3837
Jeffrey O. HendersonCorresponding author
The coronavirus infectious disease (20)19 (COVID-19) pandemic is caused by a newly identified virus (2019) SARS-CoV-2, a beta coronavirus that shares similarities with other human-infecting coronaviruses. Genomic analysis suggests that SARS-CoV-2 is closely related to SARS-CoV, a bat-related coronav…
Mar 2021 DOI 10.14302/issn.2329-9487.jhc-21-3742
Tesfaye SisayCorresponding author
Cardiovascular disease is actually a major cause of mortality, illness and hospitalization worldwide. Several risk factors have been identified that are strongly associated with the development of cardiovascular disease. Public prevention strategies have relied predominately on managing environmenta…
Dec 2020 DOI 10.14302/issn.2474-7785.jarh-20-3628
Syiao Wei NgCorresponding author
Hospital Sultanah Aminah, Jalan Persiaran Abu Bakar Sultan, 80100 Johor Bahru, Johor, Malaysia
Multiple primary malignancies especially in the head and neck region is no longer a rare occurrence and the prevalence is increasing. They were described as synchronous when the malignancies present within 6 months of another or metachronous tumors if the subsequent malignancy presents 6 months late…
Sep 2020 DOI 10.14302/issn.2692-1537.ijcv-20-3538
M.R PonizovskiyCorresponding author
Kiev, Ukraine, “Kiev regional p/n hospital”, /Head of “Laboratory Biochemistry and Toxicology”
There were compared mechanisms infecting a human organism by different viruses in relation to interaction between human diploid cellular cycle mechanisms and coronaviruses haploid genomic mechanism. Besides there were described mechamism forming combined haploid-diploid cellular cycle of viral affec…
Jul 2020 DOI 10.14302/issn.2576-6694.jbbs-20-3450
Magdy M. MahmoudCorresponding author
Background Hyperphenylalaninemia (HPA) combined with neurological signs due to impaired catecholamine, dopamine and serotonin synthesis. Symptoms may appears in first week of life but most seen in age of 4 months. Atypical PKU disease caused mainly by deficiency in 6-pyruvoyltetrahydropterin synthas…
Mar 2020 DOI 10.14302/issn.2575-1212.jvhc-20-3234
Fabrizio di VirgilioCorresponding author
Aim of the Research The aim of this study is to analyze a group of dogs of different breeds affected by osteosarcoma (OSA), to document any prevalence of this primary bone neoplasia in breeds that are phylogenetically close and to help with further research human medicine, as a model of study for pr…
Feb 2020 DOI 10.14302/issn.2690-4837.ijip-20-3176
Anubha BajajCorresponding author
Multiple endocrine neoplasia type 1 (MEN1) is a syndrome emerging from characteristic mutations of MEN1 gene with concurrently enunciated multiple endocrine and tumours and associated non-endocrine neoplasm. Previously designated as Werner’s syndrome, MEN1 syndrome denominates genomic mutation wit…
Dec 2019 DOI 10.14302/issn.2694-1198.jge-19-3079
A.N. VolobuevCorresponding author
The problem of natural selection against recessive homozygotes in a population is investigated. It is shown that natural selection of mutant alleles linked with the Х-chromosome in a population at women is described by the nonlinear differential equation of the third order. The order of the differen…
Oct 2019 DOI 10.14302/issn.2372-6601.jhor-19-2986
Isolde RiedeCorresponding author
With the definition of four gene classes, all differences between tumor cells and normal cells can be explained. Proliferative mutations induce a shortcut, forcing the cell to divide. They allow replication without control, induce somatic pairing defects of chromosomes and genome instability. Intact…
Aug 2019 DOI 10.14302/issn.2572-3030.jcgb-19-2597
Oluwafemi Oyamakin S.Corresponding author
Department of Statistics, University of Ibadan, Nigeria
In other to present a series of stochastic models from population dynamics capable of describing rudimentary aspects of genetic evolution, we studied two-allele Wright–Fisher and the Moran models for evolution of the relative frequencies of two alleles at a diploid locus under random genetic drift i…