cover
Contact Name
Mochamad Nashrullah
Contact Email
Nashrul.id@gmail.com
Phone
+6285136040851
Journal Mail Official
Nashrul.id@gmail.com
Editorial Address
Kavling Banar, Pilang, Sidoarjo, Jawa Timur
Location
Kab. sidoarjo,
Jawa timur
INDONESIA
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,
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.
Articles 372 Documents
DESCRIPTION OF THE SPECIESBRADYBAENA PLECTOTROPIS LIVING IN THE VICINITY OF THE NARYN RIVER Feruza Pardabaevna, Gaibnazarova; Khilola, Khakberdiyeva
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 12 (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.v1i12.1063

Abstract

Objective: This study aimed to investigate the terrestrial malacofauna in the Naryn River region, with a specific focus on Bradybaena plectotropis in Grigorievskoe Gorge, Kyrgyzstan, to enhance understanding of its ecological roles and biological features. Methods: Field surveys and anatomical analyses were conducted in August 2024, covering diverse biotopes across Grigorievskoe Gorge and Boom Gorge. Forty specimens were collected, documented, and examined for morphological and reproductive characteristics to determine ecological preferences and habitat distribution. Results: The study identified Bradybaena plectotropis as a dominant species in the region, demonstrating significant morphological adaptations and ecological versatility. Its roles in soil formation, organic matter decomposition, and trophic chains underscore its ecological importance. Additionally, its presence across varied biotopes highlights its adaptability and widespread distribution. Novelty: This research provides the first comprehensive faunistic and anatomical study of Bradybaena plectotropis in the Naryn River region, offering valuable insights into its taxonomy, ecological roles, and conservation relevance in Kyrgyzstan's mountainous ecosystem.
ACCELERATION HEALING AND OSSEO-INTEGRATION PROCESSES OF CPTI IMPLANT BY COATING TEETH WITH COLLAGEN-POLYCAPROLACTONE FIBER SCAFFOLD Al-Bayati, Shanai; Jassim, Raghdaa; Jabur, Akram; Bazzaz, Ayoub A.
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 12 (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.v1i12.1067

Abstract

Objective: This study aimed to enhance osseointegration and healing by combining electrospinning techniques with collagen and polycaprolactone (PCL) as a coating for commercial pure titanium (CpTi) implants. Methods: In vitro experiments utilized glacial acetic acid as a solvent system to create collagen/PCL coatings with varying PCL concentrations (10%, 15%, 20% w/v). Morphological and physical characterizations were conducted using scanning electron microscopy (SEM), atomic force microscopy (AFM), and wettability tests. In vivo studies involved implanting collagen/PCL-coated CpTi cylinders into the femoral bone of New Zealand rabbits, followed by histological analysis at 2 and 6 weeks. Results: SEM revealed that scaffolds with higher PCL concentrations exhibited finer nanofiber structures (average diameter: 232 nm) and enhanced hydrophilicity and roughness. Histological analysis demonstrated significant osteogenic activity and basal bone formation, with well-formed bone plates observed at 6 weeks for implants coated with 20% collagen and 20% PCL. Novelty: The study highlights the potential of electrospun collagen/PCL coatings to create optimal surface properties for dental implants, achieving improved tissue integration and healing outcomes. This innovative approach demonstrates the versatility of electrospinning for fabricating fibrous scaffolds that can incorporate therapeutic agents, offering transformative implications for regenerative medicine and implantology.
CHARTING THE UNSEEN: EXPLORING THE EFFECTS OF EPIGENETIC MODIFICATIONS ON SPERM AND THEIR ROLE IN MALE INFERTILITY Al-Salihi, Abbas Abdul Wahhab Jumaah; Othman, Israa Sami; Saeed, Ban Thabit; AL-Saadi, Rana R.
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 12 (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.v1i12.1068

Abstract

Objective: This study aims to review existing literature on the impact of epigenetic modifications, including DNA methylation, histone modifications, and non-coding RNA, on gene expression and their implications for human health and disease mechanisms. Methods: A literature review was conducted between January 2023 and October 2024, analyzing nine selected studies that explored the relationship between epigenetic mechanisms and gene expression in patients with various conditions, such as heart disease and cancer. Key methodologies discussed include RNA sequencing (RNA-Seq) for quantifying gene expression, chromatin immunoprecipitation sequencing (ChIP-Seq) for protein-DNA interaction analysis, and DNA microarray analysis for genome-wide gene expression profiling. Results: The findings highlight that DNA methylation suppresses gene expression by chemically modifying DNA, histone modifications alter chromatin structure to regulate gene accessibility, and non-coding RNAs influence transcription and translation processes. The interplay among these mechanisms was shown to regulate gene expression without requiring genetic mutations, resulting in diverse biological outcomes. The review also discusses the role of daily nutrition, potential complications, and therapeutic strategies targeting epigenetic modifications. Novelty: This study underscores the critical role of epigenetic changes in modulating gene expression and provides insights into their potential for advancing the understanding of disease mechanisms and developing novel approaches for diagnosis, treatment, and prevention.
IMMUNOLOGICAL STUDY OF SOME BIOMARKER IN CELIAC DISEASE IN BASRAH PROVINCE Othafa, Duaa Faiz; Mahdi, Dawood S.; Al-Saimary, Ihsan Edan
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1069

Abstract

Objective: This study investigates the diagnostic accuracy of IgG anti-deamidated gliadin peptide (DGP), IgA and IgG anti-tissue transglutaminase (tTG), IgG anti-gliadin (AGA), and IgG anti-endomysial antibodies (EMA) in diagnosing celiac disease (CD), particularly in patients with IgA deficiency. Methods: A case-control study was conducted with 118 participants, including 68 newly diagnosed CD patients and 50 healthy controls. Serum samples were collected and analyzed using the Sandwich-ELISA technique. Statistical analysis included chi-square tests, ANOVA, logistic regression, and Spearman correlation, using SPSS v26. Results: Antibody concentrations were significantly elevated in CD patients compared to controls (p = 0.0001). Median levels of anti-gliadin IgG, EMA IgG, DGP IgG, tTG IgA, and tTG IgG in patients were 40.8 ng/ml, 345.5 pg/ml, 11.5 nml/l, 2.85 ng/ml, and 95.5 ng/ml, respectively. Significant inverse correlations were observed between gliadin-IgG and EMA (-30.2%, p = 0.012), tTG IgA (-23.8%, p = 0.0001), and tTG IgG (-39.7%, p = 0.001). EMA demonstrated direct correlations with DPG (49%, p = 0.0001), tTG IgA (36.4%, p = 0.002), and tTG IgG (34.1%, p = 0.004). Novelty: This study highlights the diagnostic utility of IgG anti-DGP as a reliable marker in IgA-deficient populations and underscores the correlations among antibody markers, providing insights into their synergistic roles in CD diagnosis.
INVESTIGATING THE ROLE OF B-CELL ACTIVATING FACTOR (BAFF), GALECTIN-9, AND CD73 IN THE PATHOGENESIS OF VITILIGO: A CORRELATIVE STUDY WITH BIOCHEMICAL FACTORS AL-Ukaily, Hussein Ali Mohammed
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1073

Abstract

Objective: To investigate the involvement of immune-regulatory molecules—B-cell Activating Factor (BAFF), Galectin-9, and CD73—in the pathogenesis of vitiligo. Methods: A case-control study involving 50 patients with active vitiligo and 50 healthy controls. Peripheral blood and skin biopsy samples were collected to measure the concentrations of BAFF, Galectin-9, and CD73. Statistical analysis was conducted to evaluate differences and correlations between these markers. Results: The results showed that the levels of B-cell Activating Factor (BAFF) were significantly higher in vitiligo patients (150.64 ng/mL) compared to healthy controls (85.16 ng/mL). Similarly, Galectin-9 concentrations were elevated in patients (203.02 ng/mL) relative to controls (149.68 ng/mL). In contrast, CD73 levels were lower in vitiligo patients (49.66 ng/mL) compared to healthy controls (79.37 ng/mL), although this difference was not statistically significant. Correlation analysis revealed a positive association between BAFF and Galectin-9, while CD73 exhibited a negative correlation with both BAFF and Galectin-9. Novelty: The study identifies BAFF and Galectin-9 as potential biomarkers for vitiligo severity and suggests CD73 as a modulator of immune responses. This adds new insights into the immunopathology of vitiligo and highlights potential therapeutic targets
THE IMPACT OF INFLAMMATION ON DIABETES: PHYSIOLOGICAL PATHWAYS AND CLINICAL OUTCOMES Sahib Abdulhasan, Rawaa
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1076

Abstract

Objective: To investigate the role of inflammation in diabetes, its impact on physiological pathways, clinical outcomes, and potential therapeutic strategies. Methods: A comprehensive review of existing literature was conducted to elucidate the mechanisms linking inflammation with diabetes and evaluate the clinical implications and emerging therapeutic approaches. Results: Inflammation significantly contributes to the onset and progression of diabetes. In type 2 diabetes, chronic low-grade inflammation, driven by pro-inflammatory cytokines like TNF-α and IL-6, disrupts insulin signaling, leading to insulin resistance. Oxidative stress induced by inflammation further deteriorates beta-cell function, impairing insulin production. In type 1 diabetes, autoimmune-induced inflammation destroys pancreatic beta cells, triggering hyperglycemia. Clinically, elevated markers such as CRP are correlated with complications like cardiovascular diseases, neuropathy, and nephropathy. Anti-inflammatory therapies show promise in improving glycemic control and reducing complications. Novelty: This study highlights the intricate link between inflammation and diabetes, emphasizing novel therapeutic strategies targeting inflammation to address glycemic control and mitigate disease-related complications. Understanding these mechanisms is essential for combating the global diabetes epidemic.
LABORATORY DIAGNOSTICS OF CERVICAL CANCER Aziza Anvarovna, Karimova; Chutbayevna, Kurbonova Zumrad; Ilhom Qizi, Nimatova Mohigul; Chutbayevna, Kurbanova Gavkhar
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1081

Abstract

Objective: This study examines current laboratory diagnostic techniques for cervical cancer, focusing on their application in diverse healthcare settings, with the goal of improving early detection and management. Methods: The research explores various diagnostic methods, including Pap smears, HPV DNA testing, and visual inspection with acetic acid (VIA), alongside advancements such as liquid-based cytology, molecular biomarkers, and artificial intelligence (AI). Comparative analysis highlights their effectiveness, sensitivity, and suitability across resource-diverse contexts. Results: Findings reveal that co-testing with cytology and HPV DNA testing offers superior sensitivity, while molecular diagnostics and liquid biopsy show promise for precision medicine. AI-based tools enhance diagnostic efficiency, particularly in underserved regions. However, challenges in accessibility, cost, and expertise persist in low-resource settings. Novelty: This study underscores the transformative potential of emerging technologies like AI-assisted diagnostics and liquid biopsy, emphasizing their role in bridging healthcare disparities and supporting the World Health Organization’s goal of eliminating cervical cancer by 2030.
ANALYSIS OF ACQUIRED ANTIMICROBIAL RESISTANCE GENES IN GENOMES OF IRAQI ACINETOBACTER BAUMANNII Abduljabbar, Maryam Hazem; Salih, Talal Sabhan
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1101

Abstract

Objective: This study aimed to investigate and analyze antimicrobial-resistant (AMR) genes in Acinetobacter baumannii isolates from Iraq, identify the frequency and proportions of resistant genes, and determine strains resistant to multiple antibiotics, including their genetic profiles based on protein-coded gene sequences. Methods: A total of 41 A. baumannii draft genome sequences were retrieved from the PATRIC database, spanning 2004–2018, and analyzed using ResFinder 4.0 for antibiotic resistance genes. Molecular typing was conducted via the Pasture MLST scheme targeting seven housekeeping genes (e.g., cpn60, fusA). Data were processed through the Center for Genomic Epidemiology for detailed resistance profiling. Results: Fifty-two known resistance genes were identified in 41 genomes. Most strains demonstrated multidrug resistance (MDR), while one strain exhibited extensive drug resistance (XDR). These findings underscore the concerning emergence of highly resistant A. baumannii strains in Iraq. Novelty: The study validates ResFinder 4.0 as an effective in silico tool for genetic analysis of AMR genes in A. baumannii, providing a comprehensive genomic epidemiological profile of Iraqi isolates. This is among the first studies to offer such detailed insights into the genetic resistance mechanisms of A. baumannii in Iraq.
CLINICAL EFFICACY OF MINIMALLY INVASIVE INTERVENTIONS IN THE TREATMENT OF BILITY PERITONITIS AS A COMPLICATION OF OPERATIONS FOR CHOLELITHIASIS Halima Ikramdjanovna, Kariyeva
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1102

Abstract

Objective: This study analyzed 49 cases of bile peritonitis caused by bile leakage after bile duct surgeries, aiming to identify causative factors and assess the effectiveness of various treatments. Postoperative bile peritonitis incidence was found to be 0.8%, with "small" bile duct injuries accounting for 57.2% and main bile duct damage contributing to 42.8%. Methods: Diagnostic and therapeutic approaches included ultrasound-guided punctures, transduodenal endoscopic interventions, and laparoscopic techniques. Cases of main bile duct damage identified within 48 hours were treated with high-precision Roux-en-Y gastrointestinal anastomosis (GEA). Results: Minimally invasive methods effectively avoided relaparotomy in 93.3% of patients with "small" bile duct injuries. In contrast, early detection and surgical precision in managing main bile duct injuries provided optimal outcomes, emphasizing the criticality of timely intervention. Novelty: This study highlights the significant role of minimally invasive techniques and early detection in managing bile peritonitis, reducing the need for relaparotomy, and improving patient outcomes. The findings underscore the utility of combining advanced diagnostic and surgical strategies for bile duct injuries.
THE ROLE OF CYTOKINE PROFILE IN THE DEVELOPMENT OF ACUTE RENAL PATHOLOGY IN CHILDREN WITH COVID -19 Ismoilova, Z.A.; Xasanov, I.O.; Rayimberganova, G.Sh.; Madaminova, A.Q.; Yaqubova, Z.O.
Journal of Medical Genetics and Clinical Biology Vol. 2 No. 1 (2025): 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.v2i1.1103

Abstract

Objective: This study aimed to investigate the impact of Covid-19 on the development of tubulointerstitial kidney damage in children, focusing on cytokine profiles, kidney function, and the role of neutrophil gelatinase-associated lipocalin (NGAL) as a marker for kidney injury. Methods: A cohort of 132 children who experienced tubulointerstitial kidney damage post-Covid-19 was studied. The patients were divided into two groups: one with acute pyelonephritis (AP) and the other with acute tubulointerstitial nephritis (ATIN). Diagnostic methods included blood and urine analysis, renal ultrasound, cytokine profiling (IL-6, IL-4, TNF-α, γ-INF), and NGAL measurement. Results: The study found significantly elevated NGAL levels in the urine of children with AP and Covid-19 compared to healthy controls (110.74±1.27 vs. 65.66±0.64 ng/mg creatinine; p<0.001). Cytokine analysis revealed substantial increases in IL-6, TNF-α, and γ-INF, particularly in children with Covid-19-related kidney damage, suggesting a severe inflammatory response contributing to kidney dysfunction. Novelty: This research highlights the crucial role of cytokines in kidney injury following Covid-19 in children and emphasizes NGAL as a reliable biomarker for early detection of renal damage, offering new insights for treatment and prognosis.

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