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Mochamad Nashrullah
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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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HEMOGLOBINOPATHY IN BASRAH GOVERNORATE, CENTER STATISTICS AND NEW REGISTRY CHARACTERISTICS Batool Falah Hassan; Gadeer Ali Lazim; Montazer Mansour Jassim; Maysaa Basim Obaid; Milad Mohammed Faleeh; Basim Abdulkareem.Alhijaj
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.v1i10.991

Abstract

A retrospective study that had been conducted depending on the patients records and center data bases, concentration on the evidence of registering new cases of the disease categories, a total of 8721 patients had been registered most of them was of sickle cell diseases categories (sickle cell anemia, sickle/β+ and sickle/β0) of 5954 (68.26%), thalassemia syndromes (27.71%). 52.11% are males and 47.78% are females with a male: female ratio of 1.09, most of them are of below 18 years old 4741 (54.34%) with an adult group of 3972 (45.54%), one third of them were illiterates the rest were educated of different levels, only 6% reached higher education. 1817 different hemoglobinopathy patients was registered in Basrah during the last five years, 27.6% of them were registered during 2019 alone, 39.8% of them were homozygous sickle cell diseases while heterozygous (sickle/β+, sickle/β0) represented 33.0% of all registered cases, thalassemia syndromes (thalassemia major, thalassemia intermedia and α thalassemia) were only 27.0%. conclusions Basra governorate contain a large cohort of hemoglobinopathies patients on the national level and new case detection and registry is still significantly high for the last five years although premarital screening program did conducted recommendation a more correlational and comparable studies are to be conducted to highlight different variables of the disease-specific characteristics and an evaluation is to be conducted on evidence based way for the outcome of the currently conducted premarital screening program.
CLINICAL AND DIAGNOSTIC CRITERIALS OF LIVER FIBROSIS FORMATION IN PATIENTS WITH CHRONIC VIRAL HEPATITIS C WITH EXTRAHEPATIVE MANIFESTATIONS Narziyev I.I; Oblokulova O.A; Tohirov F.F
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.v1i10.1008

Abstract

Background: Chronic viral hepatitis C (CVHC) is often associated with various extrahepatic manifestations, which may complicate the disease's progression. Specific Background: Cryoglobulinemia, characterized by the presence of cryoglobulins in the blood, has been implicated in the exacerbation of liver conditions, yet its role in CVHC remains inadequately explored. Knowledge Gap: Despite existing knowledge of the relationship between cryoglobulinemia and liver disease, the specific impact of cryoglobulinemia on the severity of liver fibrosis and associated extrahepatic manifestations in CVHC patients requires further elucidation. Aims: This study aims to investigate the prevalence of extrahepatic manifestations and the extent of liver fibrosis in patients with CVHC who also present with cryoglobulinemia, thereby determining the clinical implications of cryoglobulin presence. Results: Our findings indicate that patients with cryoglobulinemia demonstrate a significantly higher prevalence of extrahepatic manifestations and advanced stages of liver fibrosis compared to those without cryoglobulinemia. Novelty: This research contributes novel insights into the aggravating role of cryoglobulins in the clinical course of CVHC, highlighting their potential as biomarkers for disease severity. Implications: These results underscore the need for enhanced clinical monitoring and tailored therapeutic approaches for CVHC patients with cryoglobulinemia, as their condition may predict a more severe disease trajectory and necessitate more aggressive management strategies.
LABORATORY CHARACTERISTICS OF PATIENTS WITH LIVER CIRRHOSIS OF VIRUS ETIOLOGY COMPLICATED WITH SPONTANEOUS BACTERIAL PERITONITIS Oblokulov A.R; Oblokulova O.A; Bahronov O. O
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.v1i10.1009

Abstract

Background: Systemic inflammation plays a crucial role in the pathophysiology of various diseases, particularly in patients with liver cirrhosis. Specific Background: The Neutrophil-to-Albumin Percentage Ratio (NPAR) has emerged as a novel biomarker for assessing systemic inflammation. Low serum albumin levels combined with elevated neutrophil counts have been associated with an increased risk of infections, including spontaneous bacterial peritonitis (SBP), a serious complication in cirrhotic patients. Knowledge Gap: Despite the recognized risks and mortality associated with SBP, the specific role of NPAR in predicting outcomes in patients with cirrhotic ascites remains underexplored. Aims: This study aims to evaluate the predictive value of NPAR in identifying patients at high risk for developing SBP and to assess its association with in-hospital mortality rates. Results: Our findings indicate that elevated NPAR is significantly correlated with the incidence of SBP and is associated with higher in-hospital mortality, reinforcing the potential of this biomarker in clinical practice. Novelty: This research provides new insights into the utility of NPAR as a predictive tool for SBP in cirrhotic patients, potentially guiding clinicians in early diagnosis and intervention. Implications: By highlighting the importance of NPAR, this study advocates for its incorporation into routine clinical assessments to improve patient outcomes, emphasizing that timely diagnosis and appropriate treatment of SBP can significantly reduce mortality rates.
ALTERATIONS IN HEMATOLOGICAL INDICES IN ANTENATAL AND POSTNATAL MOTHERS WITHIN KERKUK PROVINCE, IRAQ Azeez, Sarah T.; Bayatli, Feedan J.; Bazzaz, Ayoub A.; Chelebi, Noorhan A.
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1019

Abstract

Objective: The purpose of this study is to examine changes in hemoglobin, packed cell volume, white blood cells, and platelet counts in Iraqi women from Kirkuk Province during the prenatal and postnatal phases. Methods: During the course of a year, 600 women attended Azadi Hospital in Kirkuk, including 300 pregnant women in the third trimester and 300 postpartum women. An automated analyzer was used to collect and analyze blood samples, and the outcomes were contrasted with those of a control group of 60 university students who were not pregnant. Results Hematological parameters showed notable alterations. During pregnancy, hemoglobin and packed cell volume dropped, but after delivery, they rose (p < 0.022). During pregnancy, the white blood cell count was significantly greater (p < 0.001), and it continued to rise after delivery. There was no discernible change in the platelet count. Instead of clinical situations, these deviations were ascribed to normal physiological processes. Novelty: This study contributes to better health monitoring and risk assessment for maternal care by shedding light on the typical hematological alterations that occur in Iraqi women throughout pregnancy and the postpartum phase.
INTESTINAL MICROBIOTA AS A BIOMARKER OF HEALTH: AGE-SPECIFIC PROFILES AND FUNCTIONAL IMPACTS Yorkinoy Mirzahamdamovna, Niyazova
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.v1i12.1021

Abstract

Objective: The purpose of this research is to investigate the age-specific makeup, functional functions, and impact of the human intestinal microbiota on health outcomes over the life course. Method: Microbiota profiles at various life stages, from infancy to old age, were analyzed in a thorough assessment of recent research, with an emphasis on their effects on immune function, metabolism, and disease susceptibility.  Results: The results show that each life stage has unique microbial populations that help control important physiological functions. Age-related changes in immunological responses, metabolic regulation, and heightened vulnerability to chronic illnesses are specifically correlated with changes in microbial composition. Novelty: The diagnostic potential of microbiota profiling is highlighted in this review, which also provides fresh perspectives on individualized healthcare strategies. By improving the management of chronic diseases and encouraging healthier aging, the incorporation of microbiota-based approaches into clinical practice may offer more accurate diagnoses and therapeutic interventions for age-related health concerns.
CARBOHYDRATE METABOLISM IN BLOOD DONORS Iroda Nozimjon Qizi, Sokhibova
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1022

Abstract

Objective: This study investigates the effects of blood donation on carbohydrate metabolism and examines dietary strategies to support donor health. Blood donation is vital for healthcare but can temporarily disrupt glucose levels, potentially causing symptoms like fatigue and dizziness, particularly in donors susceptible to blood sugar fluctuations. Method: The research integrates a review of WHO guidelines, an analysis of recent studies on carbohydrate metabolism in blood donors, and the development of specific nutritional recommendations to support recovery. The WHO guidelines offer foundational insights into safe donation practices, while scientific research provides data on glucose regulation and recovery needs. Results: Findings reveal that complex carbohydrates before donation stabilize glucose levels, while fast-absorbing carbohydrates after donation rapidly restore energy, reducing symptoms associated with blood sugar dips. Regular donation may also benefit individuals with high carbohydrate intake by regulating glucose levels and reducing disease risks. Novelty: This study uniquely combines WHO recommendations with recent scientific insights to provide a practical, evidence-based dietary framework specifically tailored for blood donors, addressing both donor safety and physiological recovery. This approach emphasizes the importance of carbohydrate type and timing, offering a nuanced perspective for dietary management in donation contexts, and underscores the need for future research on personalized nutrition strategies for optimal donor health.
MORPHOFUNCTIONAL STATE OF THE WALL OF BRONCHI AND LUNG TISSUE STRUCTURES OF DIFFERENT CALIBER IN EXPERIMENTAL BRONCHOECTASIS Farida Muinovna, Khamidova; Mavlyuda Baxtiyor qizi, Zhovliyeva; Kuvandik Nematovich, Urakov
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1023

Abstract

Objective: This study aims to investigate the structural and functional changes in the bronchial wall and lung tissue induced by experimental bronchiectasis in a rabbit model. Method: A total of 34 adult rabbits weighing 2-2.5 kg were subjected to bronchiectasis induction using a modified method involving the insertion of a sterile Capron thread into the tracheal cavity. The rabbits were examined at intervals of 3 to 6 months post-induction, with histological and morphometric analyses conducted on their respiratory tissues. Results: Significant findings included the presence of purulent-mucous exudate, thickening of the bronchial mucosa, and inflammatory infiltrates comprising lymphocytes, neutrophils, and histiocytes. The thickness of the bronchial walls and changes in lung tissue, including emphysema and atelectasis, were also observed, indicating progressive disease over the study period. Morphometric analysis showed a marked increase in the number of cells in the bronchi and lung tissues at 3, 4, and 5 months. Novelty: This study contributes new insights into the pathological progression of bronchiectasis in an animal model, demonstrating the dynamic changes in bronchial structure and inflammatory responses over time, which may have implications for understanding the disease in human populations.
LIPID PEROXIDATION PRODUCTS AND FREE FATTY ACIDS IN BLOOD PLASMA AND CEREBRAL SPINAL FLUID IN CHILDREN WITH CONVULSIVE SYNDROME Rasuljon Mamasiddikovich, Shermatov
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1024

Abstract

Objective: This study aims to investigate the levels of lipid peroxidation (LP) products and free fatty acids (FFA) in children with convulsive syndrome (CS) to understand the oxidative stress associated with seizures. Method: A total of 45 children aged from several months to 1.5 years with various forms of CS were analyzed, alongside a control group of 13 healthy adults. Blood plasma and cerebrospinal fluid (CSF) were collected, and the concentrations of LP products (diene conjugates and Schiff bases) and FFA were quantified using spectrophotometric and fluorometric methods. Results: The findings revealed that children with CS exhibited significantly elevated levels of diene conjugates (810 ± 150 nmol per 1 mg lipids) and Schiff bases (42.6 ± 5.5% per 1 mg lipids) in blood plasma compared to the control group. Additionally, FFA levels in the blood plasma (2.1 ± 0.4 µg per 1 mg protein) were found to be markedly higher than those in healthy adults. These results indicate a profound increase in oxidative stress in children with CS, correlating with the duration and type of seizures. Novelty: This study highlights the critical role of oxidative stress in pediatric convulsive disorders and suggests that incorporating antioxidant therapies, such as α-tocopherol, may improve treatment efficacy in these patients. The findings provide a foundation for further research into therapeutic strategies targeting oxidative stress in pediatric neurology.
NATURAL PRODUCT MELON PULP AND ITS USE AS A NUTRIENT qizi, Barno Norboyeva Bahodir
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1036

Abstract

Objective: This study explores the nutritional composition, health benefits, and traditional and modern uses of melon pulp, known as qovun qoqi, a culturally significant food in Central Asia. Methods: A descriptive analytical approach was utilized, examining existing literature on melon varieties (Cucumis melo L.) to assess their vitamin, mineral, and antioxidant content, alongside bioactive properties. Qualitative data analysis further contextualizes the historical significance and evolving applications of melon pulp, especially in the context of traditional preparation methods and contemporary uses in nutraceutical and cosmetic products. Results: Findings reveal melon pulp as a nutrient-dense, hydrating ingredient rich in vitamins, minerals, and antioxidants, beneficial for bodily functions, skin health, and chronic disease prevention. Notably, the study addresses challenges in its usage, such as seasonality and handling. Novelty: By synthesizing both nutritional data and cultural perspectives, this research underscores the relevance of melon pulp in modern health-focused diets and as a versatile component in natural product industries. This work contributes to the growing recognition of traditional foods in sustainable health practices, emphasizing the potential of melon pulp as a valuable, natural ingredient for diet and wellness products.
FRENULECTOMY OF SHORT FRENULUMS OF THE UPPER LIP IN THE TREATMENT OF DIASTEMAS IN CHILDREN Sh.Y, Zokirova; Sh.I, Аnvarovа; Sh.F., Shoabdullayeva
Journal of Medical Genetics and Clinical Biology Vol. 1 No. 11 (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.v1i11.1037

Abstract

Objective: This study examines the relevance and necessity of addressing upper lip frenulum abnormalities in pediatric patients, given the increasing incidence due to environmental factors, dietary additives, and structural predispositions affecting periodontal health. Methods: Clinical studies and literature systematizations were reviewed to classify frenulum abnormalities and evaluate frenuloplasty techniques. Notable classifications include the morphological and attachment-based categorization by Nenashev and Kulikov and the density differentiation by Obraztsov and Larionov. Methods from Khoroshilkina, particularly the Limberg and Popovich techniques, are discussed for their effectiveness in managing frenulum-related diastemas. Results: The study highlights the efficacy of these frenuloplasty techniques, which involve either triangular flap repositioning (Limberg) or frenulum edge relocation to the transitional fold (Popovich). These methods have been demonstrated to effectively prevent and manage dentoalveolar deformities in outpatient settings. Novelty: This research underscores the need for an algorithm to guide treatment selection and optimize surgical outcomes based on individual frenulum morphology and attachment. Implications: The findings inform pediatric surgical dentistry, suggesting a structured approach to frenulum treatment to prevent progressive periodontal issues, speech impediments, and developmental irregularities in the dentofacial system. Further research should explore standardized protocols for surgical intervention selection in pediatric patients.

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