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Journal of Medical Genetics and Clinical Biology (JMGCB)
Published by Antis Publisher
ISSN : -     EISSN : 30321085     DOI : https://doi.org/10.61796/jmgcB
Core Subject : Health, Science,
Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing
Journal of Medical Genetics and Clinical Biology is a peer-reviewed forum for advances at the intersection of human genetics and clinical medicine. The journal welcomes original research, reviews, brief reports, and case reports that translate genomic discoveries into clinical utility—spanning diagnostic workflows, risk stratification, therapeutic decision-making, and implementation in real-world care. Areas of interest include Mendelian and complex disorders, cancer genetics, pharmacogenomics, biomarkers, clinical genomics (panel testing, WES/WGS), bioinformatics and data integration, as well as ethical and counseling considerations. By bridging molecular insights and bedside applications, the journal aims to support precision health and improve outcomes across diverse patient populations.
Arjuna Subject : Imunologi dan Mikrobiologi (semua kategori) - Imunologi dan Mikrobiologi (Lain-Lain)
Articles 372 Documents
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INNOVATIVE TECHNOLOGIES IN EARLY DIAGNOSIS OF PRECANCER AND CANCER DISEASES OF THE CERVIX Bakhtiyarovna, Isakova Dilnoza; Rafikovna, Farmankulova Yorkinoy
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.915

Abstract

Background: Cervical cancer (CC) remains a significant oncological challenge, as its early detection and intervention can substantially improve patient outcomes, including overall and recurrence-free survival, enhance quality of life, and reduce treatment costs. Specific Background: The primary etiological factor for cervical cancer is infection with oncogenic genotypes of the human papillomavirus (HPV), which is preventable through effective screening measures. Knowledge Gap: Despite the availability of screening tests, there remains a critical need for advancements in diagnostic technologies to enhance early detection rates and precision in identifying precancerous lesions and invasive cancer. Aims: This study aims to evaluate the impact of innovative technologies on the early diagnosis of precancerous conditions and cervical cancer, focusing on improvements in diagnostic accuracy, early detection, and subsequent patient management. Results: The integration of novel diagnostic technologies, such as advanced HPV testing methods, liquid biopsy techniques, and high-resolution imaging, has demonstrated significant improvements in detecting cervical abnormalities at earlier stages compared to traditional methods. These technologies enhance diagnostic precision and enable more targeted interventions. Novelty: This research highlights recent advancements in diagnostic technologies that offer higher sensitivity and specificity, including the use of biomarkers and novel imaging modalities, which represent a shift towards more personalized and effective cervical cancer screening strategies. Implications: The findings underscore the potential for these innovative technologies to revolutionize cervical cancer screening and diagnosis, ultimately leading to improved patient outcomes, reduced healthcare costs, and more effective management of cervical cancer and its precursors.
PSYCHOSOCIAL FACTORS ASSOCIATED WITH MAJOR THALASSEMIA Al_Hamadiny, Shahad Qasim; Alqaisi, Ali Abbas Sadiq; Al-Sarray, Riyam Ghazi Kareem; Ali, Sarah Akar; Trad, Hawraa Qasim; Abood, Ali Jalal
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.917

Abstract

Thalassemia is a hereditary condition that results in the creation of defective haemoglobin molecules. Patients are diagnosed with thalassemia major after exhibiting severe clinical symptoms and profound anaemia. This study aims to investigate the major thalassemia and psychosocial aspects of it, which is a critical issue, in order to serve as a road map for better treating these patients and contribute to the literature. This study used narrative review as its method. Between 2018 and 2023, a literature review was undertaken by searching materials published in databases such as Web of Science, PubMed, Scopus, and the Google Scholar search engine. Additionally, the WHO website was searched. Thalassemia major harms the heart, liver, lungs, and endocrine organs due to anaemia and iron buildup. Furthermore, the patient could experience. Mental and social issues arise as a result of the disease's congenital aetiology and lifelong duration. Thalassemia patients face significant emotional challenges as well as therapeutic burden. There are numerous research on the prevalence and physical implications of thalassemia. However, there are insufficient papers and studies documenting the psychosocial impacts of thalassemia on patients and what may be done to mitigate these effects. As a result, this research focuses on the process of thalassemia and the psychosocial problems it causes in order to contribute to the literature and provide a road map for better managing these individuals
DNA INSTABILITY ASSOCIATED WITH FOLATE DEfiCIENCY Salih, Alyaa Abdulhadi
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.918

Abstract

Folate, also referred to as Vitamin B9, is a type of vitamin that dissolves in water and plays a central role in preserving the integrity of DNA molecules and gene expression through the construction of DNA and methylation. Folate cannot be synthesised in vivo and must be obtained from the diet, particularly fruits and green leafy vegetables. deficiency of folate increases the risk of DNA stability due to uracil misincorporation into the DNA backbone and chromosome breaks, it can lead to the accumulation of deoxyuridine monophosphate (dUMP) which impairs the pathway of dTMP synthesis. in addition, it reduces the availability of methyl donors which causes impaired methylation patterns. Finally, it can generate oxidative stress leading to mtDNA damage and eventually to genomic instability. Different studies and measurement methods have produced varying evidence on the connection between folate and DNA stability, So we encourage to increase in folic acid intake for at-risk groups, but more rigorous human studies are needed before scientifically based public health recommendations about dietary requirements can be made.
TOLL-LIKE (TLRS 1,4,5) IMMUNODETECTION OF SOME TOLL-LIKE RECEPTORS AS AN IMMUNE RESPONSE TO PATIENTS WITH ACUTE APPENDICITIS AND ITS EFFACT ON CLINICAL FEATURES IN BASRA/IRAQ shaker, Zainab Nihad; Mahdi, Dawood S.; Alsaimary, Ihsan Edan; Hoka, Saad Ishaq Iskandar
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.919

Abstract

Background: Acute Appendicitis is the most common cause of emergency cases worldwide, and it may have serious consequences. If there is no precise diagnosis, it poses a dreadful issue for the community. Researchers tried to use several markers to determine the definitive diagnosis of Appendicitis. Our research thus sought to determine the various Toll-like receptor TLR1, TLR4, and TLR5 concentrations in the blood of patients suspected of Appendicitis as a diagnostic predictor. Method: This study conducted a case-control analysis on patients diagnosed with Appendicitis in the operating room at Al-Sadr Teaching Hospital and Al-Shifaa Teaching Hospital in Basra, Iraq. The control group was randomly chosen between July 2023 and November 2023. a total of 88 samples were enrolled in the study. Seventy of these samples came from patients experiencing signs and symptoms of Appendicitis. In contrast, the remaining eighteen samples were collected from apparently healthy controls (AHC) who were identical to the patient's group in terms of age, gender, habitat, and other characteristics but did not experience any appendicitis symptoms. Ethical approval was obtained from the Basra Health Department for data collection. Results: According to the findings of this investigation, the immunological markers TLR1 and TLR4 were statistically significant at a level of (P≤0.05) between the serum samples of patients and the control groups. the median concentration of (TLR1 and TLR4) were (14.70 ,10.89 ng/ml) respectively than control group (8.15 ,6.98 ng/ml), statistically show highly significant (P-= 0.000), while the median concentration of TLR5 in appendicitis patients was lower (3.11 ng/ml) than control (3.77 ng\ml), without any significant differences (p=0.185). Conclusion: The serum concentration of TLR1 and TLR4 has the potential to predict the diagnosis of appendicitis.
INVESTIGATION OF FUNGAL CONTAMINATION IN FRESH RAISIN JUICE IN MOSUL CITY AND ITS SUBURBS Krmo, May Akram; Al_Rejaboo, Maha Akram Mohammad Ali
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.922

Abstract

Elected(40) a random sample of raisin juice from both sides of Mosul city (right and left) and its suburbs, which included the areas of Bashiqa, Al-Hamdaniya, Bartella, Al-Shekhan, Aqra and Dohuk, for the period from January 2023 to April 2024, to detect the extent of contamination of these samples with fungi and yeasts using the culture media Potato Dextrose Agar and Sabouraud Sucrose Agar. The results of the culture of the samples showed that there were fungi that grew on the two media and others that grew on one media. All isolates were diagnosed based on their morphological and biochemical characteristics and diagnosis using the planting medium. (121) fungal isolates of different species were obtained with a contamination rate of (100%) distributed as follows: The highest contamination rate for fungal species 33/121 (27.3%). Candida spp. and (27.3%)33/121 Apergillus spp., respectively, while I reached Contamination rate of raisin juice with Wickerhamomycesanomalus15/121(12.39%),Saccaromyces cervisiae14/121(11.57%), Rhotodorula spp.14/121(8.26%), and Penicillium ssp. and Exophiala dermatitidis (3.3%) each. Four fungal isolates wereFor each of them, followed by the following fungal species: Geotrichum spp. and Fusarium spp. and Epidermophytes floccosum by percentage pollution reached(0.82%) respectively but Pollution rate by Mushrooms(4/121(2.47% Cladosporiumoxysporu and (1.65%)2/121 Trichophyton mentagrophytonThe results of the study showed that (26)A sample of raisin juice was heavily contaminated with filamentous fungi and yeasts.By (65%)And it isR1, R3, R4, R5, R7, R9, R10, R11, R12, R14, R15, R16, R17, R19, R20, R21, R22, R26, R28, R29, R30, R35, R36, R38, R39, and R40. The other samples were contaminated with fungi at a low rate. And I ranto be sureDiagnosisfor fungal isolationUsing molecular methods to compare nitrogenous base sequences at the National Center for Biotechnology InformationNCBI using BLAST And it was recordedstrainnewAndCandida oleophilastrain MAYKAIY and sequenced as PP961930.1 in GenBankGlobal.
EL PODER DE LA HIBRIDACIÓN GENÓMICA COMPARATIVA DE MATRICES (ACGH): REVOLUCIONANDO EL DIAGNÓSTICO DE LAS ENFERMEDADES DEL NEURODESARROLLO Mosquera, María Paula Rengifo; Giraldo, Lina Johanna Moreno
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 10 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i10.927

Abstract

Introducción: El retraso del neurodesarrollo es relativamente frecuente en niños. Las causas genéticas contribuyen de manera significativa a esta enfermedad, pudiendo ser solo una de las manifestaciones que conforman un síndrome genético, por lo que debe estudiarse mediante pruebas genéticas. El síndrome de Sotos es un trastorno genético poco frecuente caracterizado por discapacidad intelectual, sobrecrecimiento y apariencia facial típica que debe considerarse como una posibilidad diagnóstica. Objetivo: Describir el caso de un paciente pediátrico con retraso del neurodesarrollo, déficit cognitivo, deterioro conductual, epilepsia, hipotiroidismo, sobrecrecimiento y hallazgos dismórficos, sin antecedentes familiares relacionados, con sospecha de un síndrome genético, a quien se realizó array CGH. Métodos y resultados: Se realizó un aCGH de 180.000 sondas (180K). Se realizó la hibridación mediante el array Agilent® 4x180K SurePrint G3 Human ICGH. Se realizó el escaneo de los datos mediante SureScan®. La toma de datos, el análisis de calidad y el análisis de los resultados se llevaron a cabo con el software Agilent CytoGenomics v5®. Se detectó una deleción subtelomérica heterocigótica patogénica en la región cromosómica 5q35.2q35.3 con coordenadas genómicas chr5:176517339_179570928. Esta representa una CNV de 3,05 Mb, que involucra 49 genes codificadores de proteínas, 12 de ellos, patogénicos. El Síndrome de Sotos corresponde a una variante en el gen NSD1, localizado en el cromosoma 5q35.2-q35.3. Conclusiones: El retraso del desarrollo es una condición frecuente en niños, con heterogeneidad clínica y genética, permitiendo sospechar un síndrome genético asociado. El síndrome de Sotos es un trastorno genético poco frecuente caracterizado por sobrecrecimiento, rasgos dismorfológicos y discapacidad intelectual. El Array CGH es la prueba genética que ha demostrado superioridad, con una mayor tasa de diagnóstico y detección de variantes en pacientes con diferentes fenotipos asociados a retraso del neurodesarrollo, permitiéndonos tener un diagnóstico específico para establecer terapéuticas personalizadas, acercándonos a la medicina de precisión.
UNRAVELING THE ROLE OF EPIGENETIC MODIFICATIONS IN GENE REGULATION A MOLECULAR GENETICS PERSPECTIVE AL-Abedi, Yasameen Waleed; Halboti, Alaa Abdalhadi; Saleh, Ali Abdulhussein
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.928

Abstract

Epigenetic modifications is very crucial in managing on/off switch of the genes, and the kind of cell that is being built. The specific goals of this study are to identify the role of histone modifications, DNA methylation, and their interaction with each other on gene expression according to the ChIP-Seq, RNA-Seq, and bisulfite sequencing results. Therefore, in order to offer wide and profound analysis we went to specify the strains for regulatory components, to describe the molecular events, and to contemplate concerning potential clinical utility. Typically, for ChIP-Seq analysis, the number of histone modification peaks varies between 5,000-10,000 per sample, which is the comparison to the input control With regards to the genomic location of these peaks 60-70% of these are in promoter regions, while 20-30% of these are in enhancers. Described variation in RNA-Seq brought about 1000–3000 DE genes per condition; in the compared conditions, the difference generally ranged from 2 to 10 folds. Specifically, 500-1500 of them had different methylation between the control and the patient group with different methylation variations; 20%-60%. Thus, the integration of these datasets demonstrated that there exists significant relationships between histone modification and gene expression level, with the former ment for active modification leading to up-regulation of genes and the latter for repressive modification leading to down- regulation of genes. Besides, the report determined that hypomethylation of promoters of genes led to overexpression whereas hypermethylation of promoters of genes l led to underexpression. The functional enrichment of the genes with the epigenetic changes revealed mostly the cell cycle and signal transduction based on the Gene Ontology.
THE PREVALENCE OF INTESTINAL PARASITIC INFECTIONS AMONG PEDIATRIC PATIENTS IN KUT, IRAQ: A COMPARATIVE STUDY BY MEANS OF MICROSCOPY AND MULTIPLEX PCR Abed, Rana Jaafer
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.940

Abstract

Intestinal parasitic infections (IPIs) continue as a substantial public health issue in evolving nations, with pediatric population’s presence particularly susceptible. This study examines the prevalence of Entamoeba histolytica, Giardia lamblia, and Cryptosporidium parvum among children in Kut, Iraq, using both conventional microscopy and Multiplex PCR methodologies. A total of 257 stool specimens were procured from children aged 0 to 14 years crossways various hospitals and healthcare institutions. The specimens underwent an initial macroscopic and microscopic evaluation, subsequently followed by DNA extraction and examination by Multiplex PCR to supplement the detection capabilities for parasitic pathogens. The collective infection rate was determined to be 42.41%, with a larger prevalence experiential in females (49.24%) when compared with males (35.20%). Age-group analysis indicated that children aged 12 to 14 years showed the highest infection rate (60.00%), while the lowest prevalence was renowned in children under three years of age (37.50%). A proportional analysis between urban and rural environments revealed a heightened infection prevalence in rural locales (55.17% vs. 41.18%). The diagnostic efficiency of microscopy and Multiplex PCR confirmed considerable concordance, with Pearson correlation coefficients above 0.99 for all three parasites, so representative a healthy contract between the two diagnostic approaches. Nevertheless, Multiplex PCR shown a slightly superior detection rate for Entamoeba histolytica, Giardia lamblia, and Cryptosporidium parvum. These results emphasize the authoritative for the addition of molecular diagnostic practices into standard clinical repetition to improve the sensitivity and accurateness of IPI detection, particularly within resource-constrained environments.
PREPARING NANOPARTICLES USING SOME BIOLOGICAL METHODS AND STUDYING THEIR EFFECT ON SOME MYCOTOXINS Radhi, Zahraa Essa; Azeez, Zahraa Falah
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.944

Abstract

General Background: Mycotoxins, toxic substances produced by certain fungi and bacteria, pose significant health risks to humans and animals, necessitating effective remediation strategies. Specific Background: The use of environmentally friendly approaches to mitigate the impact of these toxins is crucial. Nanotechnology, particularly in conjunction with plant extracts, has emerged as a promising method for toxin remediation due to its cost-effectiveness and efficiency. Knowledge Gap: Despite the potential of nanomaterials in mycotoxin management, there is limited research exploring the interaction between plant extracts and nanotechnology in inhibiting toxin-producing fungi. Aims: This study aims to investigate the efficacy of zinc oxide nanomaterials synthesized from mint plant extracts in mitigating the effects of mycotoxins and inhibiting the growth of mycotoxin-producing fungi. Results: Mint leaves were collected from various locations in Al-Qadisiyah Governorate over an eight-week period. The extracted plant materials were used to synthesize zinc oxide nanoparticles, which demonstrated significant inhibitory effects on the growth of specific fungi responsible for mycotoxin production, thereby reducing mycotoxin formation. Novelty: This research highlights the innovative application of mint-derived zinc oxide nanoparticles as a dual-action agent—suppressing fungal growth while simultaneously preventing mycotoxin synthesis. Implications: The findings provide valuable insights into sustainable agricultural practices and mycotoxin management, paving the way for the development of natural, eco-friendly solutions to enhance food safety and protect public health.
CLINICAL CHARACTERISTICS OF BURNOUT SYNDROME Faxritdinovna, Yadgarova Nargiza; Shavkatovna, Shadmanova Lola
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 9 (2024): Journal of Medical Genetics and Clinical Biology
Publisher : PT. Antis International Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.61796/jmgcb.v1i9.961

Abstract

General Background: Emotional Burnout Syndrome (EBS) has emerged as a significant concern within healthcare professions, affecting the mental health and performance of medical practitioners. Specific Background: While various studies have examined EBS, there remains a lack of comprehensive analysis focused on the influence of demographic factors such as age and gender among doctors in diverse specialties. Knowledge Gap: Existing literature inadequately addresses the specific characteristics of EBS development across different age groups and professional roles, highlighting the need for targeted research in this area. Aims: This study aims to investigate the prevalence and developmental characteristics of EBS among doctors, with particular attention to variations by age and gender. Results: The findings indicate that female doctors aged 24 to 34 experience significantly higher overall stress levels compared to their male counterparts. Furthermore, women aged 46 to 55 demonstrated a pronounced resistance phase to stress. A weak direct correlation (p<0.05) was identified between the emergence of this resistance phase and the overall age of symptom development. Notably, over half of the respondents exhibited a resistance phase, while nearly 20% reported signs of stress and burnout. Oncologists and psychiatrists were found to have the highest prevalence of EBS. Novelty: This research provides new insights into the demographic factors influencing EBS, emphasizing the unique experiences of female medical practitioners and highlighting the specialties most affected. Implications: The findings underscore the necessity for healthcare institutions to implement targeted interventions to address EBS, particularly for vulnerable groups, thereby promoting the mental well-being of medical professionals and enhancing overall healthcare delivery.

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