Journal of Medical Genetics and Clinical Biology
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MULTILEVEL OSTEOSYNTHESIS OF THE LOWER EXTREMITIES BY THE ILIZAROV METHOD TO ELIMINATE DEFORMITIES AND SHORTENINGS IN CHILDREN AND ADOLESCENTS
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EL PODER DE LA HIBRIDACIÓN GENÓMICA COMPARATIVA DE MATRICES (ACGH): REVOLUCIONANDO EL DIAGNÓSTICO DE LAS ENFERMEDADES DEL NEURODESARROLLO
Get PDFIntroducción: 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
SYNTHESIS, CHARACTERIZATION AND BIOLOGICAL ACTIVITY OF SOME SCHIFF BASE METAL COMPLEXES
Get PDFThis study presents the synthesis and characterization of five metal complexes (C1–C5) derived from the reaction of a newly synthesized ligand (HL) with various metal chlorides, specifically Zn, Co, Ni, Mn, and Fe. General Background: Transition metal complexes have garnered significant interest due to their diverse biological activities and potential therapeutic applications. Specific Background: The ligand (HL) was synthesized from equimolar amounts of p-anisidine and salicylaldehyde, yet the influence of different metal ions on the biological properties of such complexes remains underexplored. Knowledge Gap: While several metal complexes exhibit antimicrobial properties, there is limited research on the biological activities of complexes formed with this specific ligand. Aims: This work aims to synthesize and characterize the metal complexes and evaluate their antibacterial activity against various bacterial strains. Results: Characterization via FT-IR and ¹H NMR spectroscopy confirmed the successful formation of the complexes, indicating strong metal-ligand interactions. Preliminary biological testing revealed varying degrees of antibacterial activity among the complexes, with notable effectiveness against certain bacterial strains. Novelty: The study contributes to the understanding of how different metal ions influence the biological properties of metal-ligand complexes. Implications: These findings suggest that the synthesized metal complexes could serve as potential candidates for further development in antimicrobial therapies, prompting additional research into their mechanism of action and broader biological applications
GENETIC VARIATION OF HOUSEKEEPING GENES IN MULTIDRUG RESISTANT PSEUDOMONAS AERUGINOSA
Get PDFBackground: Pseudomonas aeruginosa is a prominent opportunistic pathogen responsible for nosocomial infections, particularly among immunocompromised individuals. Specific Background: Its ability to develop multiple antibiotic resistance poses a significant clinical challenge, highlighting the need for a deeper understanding of its genetic diversity and virulence factors. Knowledge Gap: While previous studies have explored antibiotic resistance mechanisms, there is limited research on the genetic diversity of Pseudomonas aeruginosa isolates in specific geographic regions, such as Kirkuk. Aims: This study aimed to investigate the genetic diversity of Pseudomonas aeruginosa isolates from clinical samples obtained from Kirkuk Civil Hospitals, utilizing Multi-Locus Sequence Typing (MLST) for genetic analysis. Results: Fourteen P. aeruginosa isolates were confirmed through biochemical tests and the VITEK-2 system, with an alarming 85.71% (12/14) exhibiting antibiotic resistance. Molecular analysis revealed the presence of several housekeeping genes, although some genes did not amplify. Notably, two new serotypes (PS3:id:9797 and PS4:id:9796) were identified and added to the MLST database, along with three new genes registered in NCBI. Phylogenetic analysis indicated a divergent cluster among three isolates. Novelty: This research contributes new insights into the genetic diversity of Pseudomonas aeruginosa, identifying novel serotypes and genes, which are critical for understanding its epidemiology and resistance mechanisms. Implications: The findings underscore the importance of ongoing surveillance of Pseudomonas aeruginosa in clinical settings to inform treatment strategies and public health policies aimed at managing antibiotic resistance and improving patient outcomes
BLOOD VISCOSITY AND GIT DISORDERS OF HCV PATIENTS
Get PDFBackground: Hepatitis C virus (HCV) infection is a blood-borne viral illness responsible for significant morbidity and mortality all over the world. The current study aims to determine the role of HCV in increasing blood viscosity that is accompanied by attacks and serious heart disorders, in addition to knowing the effect of this infection on irritations and disorders of the digestive system. Methods: The practical side included collecting blood samples from 50 HCV infected persons and 50 healthy persons as a control group. Laboratory and clinical tests were carried out at Al-Diwaniyah General Teaching Hospital, where HCV was determined by checking for antibodies using the ELISA test, while blood viscosity was determined by knowing the percentage of red blood cells (hemocrit) as part of the complete blood test. Gastrointestinal tract (GIT) diseases were diagnosed using gastroendoscopy and x-rays, in addition to investigations Helicobacter pylori (H. pylori). Result: ulcers and stomach acidity with colitis together (A,B,D) were in high rates in patients (58%) compared with healthy people (6%) and produced this is a clear statistical difference (p<0.05). Moreover, Blood viscosity increased (71.54%) with a rise titer of HCV in patients blood (18.38 logIU/mL) that associated with appearance of strong positive linear correlation (r= 0.965, p= 0.004). In conclusion: HCV leads to serious complications, especially the digestive system and circulation, and the risk of these disorders increases with the increased survival of the virus C in the patient's liver. Therefore, it is necessary to use appropriate treatments, especially effective modern treatments represented by Harvoni
COMPARISON OF THE ANTITUMOR EFFECT OF KOLHIPRIT-NEO WITH THE EFFECT OF COMMERCIAL DRUGS
Get PDFObjective: In this study, mice with transplanted Sarcoma 180 and Solid Ehrlich tumors (SET) were used to test the antitumor activity of oral K-20 (colchiprit-neo) against different cytostatics. Methods: Antitumor activity was tested in outbred mice with transplanted tumors, treated orally with K-20 and XELODA, and intraperitoneally with doxorubicin, taxol, etoposide, or other cytostatics. Treatment was began on the 4th-5th day post-transplantation, delivered daily for 10 days. Tumor growth inhibition (TGI), animal body and spleen weight, and hematopoietic indices were measured, with statistical significance set at p < 0.05. Results: While other treatments showed significant reductions in hematopoietic parameters, K-20 treatment did not significantly affect body or spleen weight or leukocyte levels. K-20 showed superior antitumor activity, inhibiting tumor growth by 92-94% in Sarcoma 180 and SET models, outperforming doxorubicin (90%) and taxol (84-88%), and demonstrating 27% greater efficacy than XELODA. Novelty: In contrast to conventional cytostatics, K-20's oral administration demonstrated strong anticancer effects along with a good safety record and little influence on hematopoiesis or organ weights
MOLECULAR IDENTIFICATION OF SOME SPECIFIC VIRULENCE GENES IN ESCHERICHIA COLI RESPONSIBLE FOR UTIS
Get PDFObjective: This study aimed to determine the phylogroups and specific virulence genes of uropathogenic Escherichia coli (UPEC) in patients suspected of urinary tract infections (UTIs) at Al-Hawija General Hospital in Kirkuk. Methods: A total of 120 urine samples were collected from patients exhibiting clinical signs of UTIs. The presence of bacteria was confirmed using light microscopy and bacterial cell identification techniques. Positive samples underwent bacterial cultivation and DNA extraction using a specialized kit. Polymerase chain reaction (PCR) analysis was performed to identify virulence factor genes (chuA, fimH, uidA, and arpA) associated with pathogenicity. Results: Of the 120 analyzed samples, 90 (75%) showed bacterial growth, with 25 (27.78%) from males and 65 (72.22%) from females. PCR analysis confirmed the presence of virulence genes in E. coli isolates, linking these genes to the bacteria's role in causing UTIs. Novelty: This study provides a comprehensive analysis of UPEC phylogroups and virulence genes in UTI patients, highlighting gender-based prevalence. The use of PCR to identify pathogenic genes offers valuable insights into the molecular mechanisms of UPEC, which could inform future diagnostic and treatment strategies
THE EFFECT OF PSIDIUM GUAJAVA LEAVES EXTRACTS AND THEIR EFFECTIVE COMPOUND AGAINST LEISHMANIA INFANTUM
Get PDFObjective: This study aims to evaluate the anti-leishmanial activity of aqueous and alcoholic extracts of Psidium guajava L. against Leishmania infantum. Additionally, it involves screening the phenolic and flavonoid compounds in the extracts using High-Performance Liquid Chromatography (HPLC). Methods: Standardized methods were employed to prepare aqueous and alcoholic extracts of Psidium guajava L. In vitro assays tested the inhibitory effect of these extracts on the growth of Leishmania infantum promastigotes, with the IC50 values determined. HPLC analysis identified flavonoids and phenolic compounds in the alcoholic extract. Data analysis explored the correlation between compound concentration and anti-leishmanial activity. Results: : The aqueous and alcoholic extracts exhibited significant inhibitory effects on Leishmania infantum promastigote growth. The IC50 value for the aqueous extract was 0.25 mg/mL, while the alcoholic extract showed a slightly higher potency with an IC50 of 0.23 mg/mL. HPLC analysis confirmed the presence of phenolic and flavonoid compounds in the alcoholic extract, which are likely responsible for the observed anti-leishmanial activity. Novelty: This study demonstrates the anti-leishmanial potential of Psidium guajava L., highlighting its aqueous and alcoholic extracts as promising candidates for further investigation. The identification of specific phenolic and flavonoid compounds provides insights into the bioactive components contributing to the inhibitory effects
Applications of Physics in Diagnostic Imaging
Get PDFThis article will explore the various ways in which physics is applied in diagnostic imaging, with a focus on X-ray, computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound. Diagnostic imaging has become a cornerstone of modern medicine, since the advent of radiography. Over the years, various diagnostic imaging techniques have been developed, each with its indications and contraindications. However, all diagnostic imaging techniques have one underlying commonality: they rely on the fundamental principles of physics. Consequentially, it becomes of further importance to know and understand the concepts of applied physics, to produce better healthcare professionals