Journal of Medicine and Life最新文献_第10页

Optical microscopy evaluation of root canal filling removal by beginner operators in posterior teeth. 光学显微镜评估初学者对后牙根管充填物的清除。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0283

Bogdan Dimitriu, Ioana Suciu, Oana Elena Amza, Mihai Ciocârdel, Dana Bodnar, Ana Maria Cristina Țâncu, Mihaela Tanase, Maria Sabina Branescu, Mihaela Chirilă

{"title":"Optical microscopy evaluation of root canal filling removal by beginner operators in posterior teeth.","authors":"Bogdan Dimitriu, Ioana Suciu, Oana Elena Amza, Mihai Ciocârdel, Dana Bodnar, Ana Maria Cristina Țâncu, Mihaela Tanase, Maria Sabina Branescu, Mihaela Chirilă","doi":"10.25122/jml-2024-0283","DOIUrl":"https://doi.org/10.25122/jml-2024-0283","url":null,"abstract":"This study analyzed the effectiveness of root canal filling removal in lower molars performed by beginner operators using optical microscopy. A total of 55 mandibular first and second molars with mesial roots exhibiting an average curvature of 10-20° were selected based on preoperative radiographs. Instrumentation was done with ProTaper Gold (Dentsply Sirona) up to F2 (25/.08), using 2ml of 2.5% NaOCl irrigation solution after each file. Root canal obturation was performed using gutta-percha points with cold lateral condensation and Sealapex (Kerr Dental). Coronal fillings were made with composite resin and stored in distilled water for two years. Removal of the root canal fillings was performed with AF Retreatment Rotary (AFRR) and AF Blue R3 (AFBR3) (Fanta Dental Materials) under reciprocating motion with 2.5% NaOCl irrigation. Cross-sections of the coronal, middle, and apical thirds were analyzed at 40x magnification using a STEINDORFF POL microscope with a digital camera. Image analysis was conducted using Image J software, version 1.54, to determine the efficiency of root canal filling removal by percentage. Statistical analysis via one-way ANOVA revealed significant differences between distal and mesial roots (P < 0.05). Specifically, for mesial roots, the removal efficiency was 70.65% in the coronal third, 54.66% in the middle third, and 21.32% in the apical third. Significant difficulties were noted due to fractured files, calcifications, and debris accumulation in the isthmuses. The study concluded that the protocol using Fanta files demonstrated significant differences in removal efficiency correlated with root curvature, compounded by the inexperience of beginner operators. The findings highlight the challenges faced by novice practitioners in achieving effective root canal filling removal.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"555-563"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Microscopic and statistical evaluation of the marginal defects of composite restorations: in vitro studies. 复合树脂修复体边缘缺陷的显微和统计评估：体外研究。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0282

Dana Bodnar, Anca Silvia Dumitriu, Ioana Suciu, Bogdan Dimitriu, Mihaela Chirilă, Ruxandra Bartok, Mihai Ciocârdel, Ana Maria Cristina Țâncu, Dan Straja

{"title":"Microscopic and statistical evaluation of the marginal defects of composite restorations: in vitro studies.","authors":"Dana Bodnar, Anca Silvia Dumitriu, Ioana Suciu, Bogdan Dimitriu, Mihaela Chirilă, Ruxandra Bartok, Mihai Ciocârdel, Ana Maria Cristina Țâncu, Dan Straja","doi":"10.25122/jml-2024-0282","DOIUrl":"https://doi.org/10.25122/jml-2024-0282","url":null,"abstract":"This study aimed to evaluate the quality of dental restorations using laboratory microscopic techniques, focusing on the positioning of restorations relative to cavity edges and identifying common errors, such as incomplete or excessive coronal restorations. A total of 41 extracted lateral teeth, previously treated in vivo with Class I or II composites, were analyzed. Thirty-three of these teeth were sectioned medio-distally or buccal-orally and examined under a research laboratory microscope. Marginal areas were measured using eyepieces with a graduated scale and calibration slide, and a frequency statistical analysis was conducted. The analysis revealed that the teeth had fractious edges, deficient marginal closure, excess composite, incorrectly restored occlusal cusps, and marginal adaptation errors, with approximately half of these errors involving excess material. It was observed that restoration procedures in distal areas are particularly challenging, and clinical errors with excess material occur more frequently than those with a deficit. These findings underscore the need for improved techniques and precision in dental restorations to minimize such errors.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"625-633"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Biochemical assessment in a cohort of pediatric patients with cystic fibrosis. 对一组儿科囊性纤维化患者进行生化评估。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0288

Corina-Elena Anghel Delia, Andreea-Mariana Negrescu, Iustina-Violeta Stan, Simona Raluca Iacoban, Elena-Simona Moiceanu, Geanina-Mirela Toma, Elena Ionica, Anisoara Cimpean

{"title":"Biochemical assessment in a cohort of pediatric patients with cystic fibrosis.","authors":"Corina-Elena Anghel Delia, Andreea-Mariana Negrescu, Iustina-Violeta Stan, Simona Raluca Iacoban, Elena-Simona Moiceanu, Geanina-Mirela Toma, Elena Ionica, Anisoara Cimpean","doi":"10.25122/jml-2024-0288","DOIUrl":"https://doi.org/10.25122/jml-2024-0288","url":null,"abstract":"Cystic fibrosis (CF) is a recessive inherited disorder caused by genetic mutations in the CF transmembrane conductance regulator (CFTR) gene. It is a multisystem condition that primarily induces abnormal mucus accumulation in the respiratory system and obstructs the intrapancreatic common bile duct, causing a reduction in the delivery of digestive enzymes to the small intestine. Thus, patients with CF are characterized by maldigestion, malabsorption, and recurrent airway bacterial infections. Clinical monitoring of the health status of patients with CF is mandatory for increasing the patients' lifespan. To assess the feasibility of monitoring life quality (LQ) in pediatric patients with cystic fibrosis (CF) and to explore the relationship between biochemical parameters and clinical symptoms, our study analyzed inflammatory responses related to CF, medication, and pulmonary bacterial infections in 52 patients diagnosed with CF. Blood, hypo-pharyngeal exudate, and fecal samples were analyzed using clinical biochemistry, hematology, and microbiology techniques at the Alessandrescu-Rusescu National Institute for Mother and Child Health central laboratory in Bucharest, Romania. All the participants adhered to their prescribed outpatient CF regimens and appeared clinically stable. The overall clinical status of patients with CF was observed and compared with that of a healthy control group, which consisted of individuals similar in number and age. The screened patients with CF presented an impaired lipid status and chronic infections with various bacteria, iron, and vitamin (A, D, and E) deficiencies. Our findings provide insights into the pathophysiological mechanisms of CF and suggest that tailored monitoring and personalized therapeutic strategies could improve patient management.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"610-619"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Caffeic acid phenethyl ester attenuates Enterococcus faecalis infection in vivo: antioxidants and NF-κB have a protective role against stomach damage. 咖啡酸苯乙酯可减轻体内粪肠球菌感染：抗氧化剂和 NF-κB 对胃损伤具有保护作用。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2023-0544

Abdulaziz Yahya Al-Ghamdi

{"title":"Caffeic acid phenethyl ester attenuates Enterococcus faecalis infection in vivo: antioxidants and NF-κB have a protective role against stomach damage.","authors":"Abdulaziz Yahya Al-Ghamdi","doi":"10.25122/jml-2023-0544","DOIUrl":"https://doi.org/10.25122/jml-2023-0544","url":null,"abstract":"The mammalian gastrointestinal tract hosts a significant microbial symbiont community, an intriguing feature of this complex organ system. This study aimed to investigate the anti-inflammatory, antioxidant, and protective effects of caffeic acid phenethyl ester (CAPE) against Enterococcus faecalis infection in the stomach at a dose of 106 CFU in Swiss mice. A total of 30 mice were randomly assigned to three groups of ten mice each. Group I was the negative control, Group II was infected orally with E. faecalis for 18 days, and Group III was infected with E. faecalis and treated with CAPE orally at a daily dose of 4 mg/kg for 18 days. We assessed the antioxidant activities of stomach homogenate and the immunohistochemical expressions of the transcription factor nuclear factor kappa B (NF-κB) and proliferating cell nuclear antigen (PCNA). Histopathological examination was performed on the stomachs of all mice. Group II had decreased levels of antioxidant activity and positive expressions of NF-κB and PCNA. Histological observations revealed an increase in mucosal and glandular thickness compared with Group I. Group III, treated with CAPE, showed a significant increase in antioxidant activities and a significant decrease in NF-κB and PCNA immunoreactivities compared with Group II. In addition, Group III showed restoration of the normal thickness of the non-glandular and glandular parts of the stomach. Our results revealed that E. faecalis infection has damaging effects on the stomach and proved that CAPE has promising protective, anti-inflammatory, and antioxidant effects against E. faecalis. Further studies may investigate the potential therapeutic effects of CAPE against E. faecalis infection.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"574-581"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of molecular marker expression in cutaneous lesions and cervical carcinoma associated with HPV infection. 与人乳头瘤病毒感染相关的皮肤病变和宫颈癌的分子标记表达分析。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2023-0329

Laura Maghiar, Liliana Sachelarie, Anca Carmen Huniadi

{"title":"Analysis of molecular marker expression in cutaneous lesions and cervical carcinoma associated with HPV infection.","authors":"Laura Maghiar, Liliana Sachelarie, Anca Carmen Huniadi","doi":"10.25122/jml-2023-0329","DOIUrl":"https://doi.org/10.25122/jml-2023-0329","url":null,"abstract":"The study sought to systematically compare the expression of molecular markers in benign cutaneous lesions and squamous cell cervical carcinoma associated with HPV infection to better understand the pathophysiological mechanisms involved in HPV-related lesions and their progression to malignancy. We included 200 patients recruited from a gynecological clinic divided into two groups: 100 patients with positive HPV tests presenting with cutaneous lesions and 100 patients diagnosed with squamous cell cervical carcinoma and testing positive for HPV. The participants were selected to ensure diverse ethnic and demographic representation. The study utilized different statistical analyses, including Chi-square tests to assess associations between categorical variables and logistic regression to evaluate factors influencing lesion progression and compare marker expressions across different lesion types. The results indicated significant differences in the expression of specific molecular markers between cutaneous lesions and cervical carcinomas, highlighting distinct molecular pathways involved in HPV-related lesion development. Notably, markers such as p16, p53, and E-cadherin showed varying expression, suggesting their potential role in distinguishing between benign and malignant lesions. The findings emphasize the significance of molecular marker profiling in improving diagnostic and therapeutic strategies for HPV-related lesions. The differential expression of molecular markers can offer valuable insights into the pathogenesis of HPV-induced lesions and help develop targeted interventions to prevent malignant transformation. Further research is necessary to validate these markers in larger cohorts and diverse populations.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"634-638"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MiRNAs as potential biomarkers in early breast cancer detection: a systematic review. 作为早期乳腺癌检测潜在生物标记物的 MiRNA：系统综述。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0322

Ana-Maria Mihai, Laura Maria Ianculescu, Nicolae Suciu

{"title":"MiRNAs as potential biomarkers in early breast cancer detection: a systematic review.","authors":"Ana-Maria Mihai, Laura Maria Ianculescu, Nicolae Suciu","doi":"10.25122/jml-2024-0322","DOIUrl":"10.25122/jml-2024-0322","url":null,"abstract":"Breast cancer remains a significant global health challenge, with high incidence and mortality rates. While mammography has contributed to declining mortality, its limitations in sensitivity and specificity for early detection, particularly in distinguishing between pure atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS), and invasive ductal carcinoma (IDC), highlight the need for more precise tools. Even with core needle biopsy (CNB), conclusive diagnoses often require surgical excision. This underscores the urgency for non-invasive biomarkers to improve early detection and differentiation, potentially reducing invasive procedures. Recent research has shifted focus from mRNA to microRNAs (miRNAs) as promising biomarkers for breast cancer screening. These small non-coding RNAs, which exhibit abnormal expression patterns in breast cancer patients' tissue and serum/plasma, play crucial roles in early breast cancer development by modulating proto-oncogenes or tumor suppressor genes at the post-transcriptional level. Notably, miRNAs such as miR-21, miR-155, and miR-200c are key regulators of cell proliferation and apoptosis, with the potential to distinguish between normal tissue and various stages of breast lesions, including ADH, DCIS, and IDC. Additionally, miRNAs in serum and plasma offer a non-invasive method to differentiate breast cancer stages. This review aims to consolidate current knowledge on early breast lesions and explore the potential of miRNAs as biomarkers for early breast cancer detection, which could enhance risk prediction and reduce reliance on invasive diagnostic procedures.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"549-554"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correlation between ultrasonographic and cytologic features of thyroid nodules: a single-center cross-sectional study. 甲状腺结节的超声和细胞学特征之间的相关性：一项单中心横断面研究。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0038

Imane Ziani, Anouar Jamal, Imane Assarrar, Ikram Karabila, Siham Rouf, Hanane Latrech

{"title":"Correlation between ultrasonographic and cytologic features of thyroid nodules: a single-center cross-sectional study.","authors":"Imane Ziani, Anouar Jamal, Imane Assarrar, Ikram Karabila, Siham Rouf, Hanane Latrech","doi":"10.25122/jml-2024-0038","DOIUrl":"https://doi.org/10.25122/jml-2024-0038","url":null,"abstract":"A thyroid nodule is managed according to the clinical context, ultrasound (US) findings, and fine needle aspiration (FNA) results. Most thyroid nodules are benign; however, nodule classification is crucial to avoid unnecessary thyroid surgery. We conducted this study to compare the findings of fine-needle aspiration cytology (FNAC) expressed using the Bethesda system with the features of thyroid US classified using the EU-TIRADS classification to assess the risk of malignancy. A descriptive and analytical study involving 99 patients with thyroid nodules followed up in the Department of Endocrinology-Diabetology and Nutrition. Data were collected from medical records and analyzed using SPSS software V21. FNA was performed on 121 nodules using the BETHESDA system. These nodules were classified as malignant, suspicious for follicular neoplasm, and suspicious for malignancy in 5.8%, 5%, and 1.7% of cases, respectively. As for the EU-TIRADS 2017 classification, 59.5% of benign nodules were classified as EU-TIRADS III, whereas 66.7% of malignant nodules were classified as EU-TIRADS V and significantly related to malignant prediction (P = 0.000). The size of nodules was significantly correlated to the risk of malignancy (P = 0.013). Seventy-five percent of nodules with central vascularity were malignant (P = 0.012). Irregularity of nodule contours was significantly associated with the risk of malignancy, as 30% of nodules with irregular contours were Bethesda VI (P = 0.003). Hypoechogenicity was found in 77.8% of malignant nodules (P = 0.004). Additionally, only 9.2% of the nodules were taller than wide, of which 37.5% were malignant (P = 0.012). For a safe management strategy, US-guided FNAC should be performed on each suspicious thyroid nodule, given the correlation between EU-TIRADS classification features and the risk of malignancy.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"593-600"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Stem cell therapy prior to follicular unit hair transplantation on scarred tissue: a novel approach to a successful procedure. 在瘢痕组织上进行毛囊单位毛发移植前的干细胞疗法：成功手术的新方法。

Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0303

Felix Mircea Popescu, Lidia Filip, Matei Popescu, Ioan Petre Florescu

{"title":"Stem cell therapy prior to follicular unit hair transplantation on scarred tissue: a novel approach to a successful procedure.","authors":"Felix Mircea Popescu, Lidia Filip, Matei Popescu, Ioan Petre Florescu","doi":"10.25122/jml-2024-0303","DOIUrl":"https://doi.org/10.25122/jml-2024-0303","url":null,"abstract":"Follicular unit hair extraction (FUE) is effective for hair restoration but is less successful on scarred tissue due to reduced vascularity and altered tissue architecture. Stem cell therapy can enhance tissue regeneration, possibly improving FUE outcomes on scarred tissue. This study investigated the impact of stem cell therapy prior to FUE on scarred tissue. Sixty patients with scalp scars from trauma or previous surgeries were divided into two groups. Group A (n = 30) received autologous stem cell therapy followed by FUE, while Group B (n = 30) underwent FUE without prior stem cell treatment. Autologous stem cells were harvested from patients' adipose tissue and injected into the scarred area four weeks before FUE. Outcomes were assessed at 3-, 6-, and 12-months post-transplantation, focusing on hair density, graft survival rate, and patient satisfaction. Histological examinations evaluated tissue regeneration. Group A showed significantly higher hair density (mean increase of 45%) and graft survival rates (87%) compared to Group B (mean increase of 25%, graft survival rate of 60%) at all follow-up points (P < 0.05). Histological analysis revealed enhanced neovascularization and reduced fibrosis in the stem cell-treated group, with 70% more new blood vessels and 50% less fibrotic tissue compared to the control group. Patient satisfaction scores were higher in Group A (average score of 8.5 out of 10) versus Group B (6.0), indicating better aesthetic outcomes and reduced scar visibility. Pre-treatment with autologous stem cell therapy significantly improved FUE effectiveness on scarred tissue, enhancing graft survival, hair density, and patient satisfaction. Further research is recommended to optimize this therapeutic strategy.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"582-587"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MED23 pathogenic variant: genomic-phenotypic analysis. MED23 致病变体：基因组表型分析。

Journal of Medicine and Life Pub Date : 2024-05-01 DOI: 10.25122/jml-2024-0065

Ahmed Bamaga, Osama Muthaffar, Anas Alyazidi, Sarah Bahowarth, Mohammed Shawli, Fahad Alotibi, Matar Alsehemi, Mohammad Almohammal, Adel Alawwadh, Njood Alghamdi

{"title":"MED23 pathogenic variant: genomic-phenotypic analysis.","authors":"Ahmed Bamaga, Osama Muthaffar, Anas Alyazidi, Sarah Bahowarth, Mohammed Shawli, Fahad Alotibi, Matar Alsehemi, Mohammad Almohammal, Adel Alawwadh, Njood Alghamdi","doi":"10.25122/jml-2024-0065","DOIUrl":"10.25122/jml-2024-0065","url":null,"abstract":"The mediator complex subunit 23 (MED23) gene encodes a protein that acts as a tail module mediator complex, a multi-subunit co-activator involved in several cellular activities. MED23 has been shown to have substantial roles in myogenesis and other molecular mechanisms. The functions of MED23 in the neurological system remain unclear and the clinical phenotype is not thoroughly described. Whole exome sequencing was used to identify a novel mutation in the MED23 gene. DNA capture probes using next-generation sequencing-based copy number variation analysis with Illumina array were performed. The clinical, demographic, neuroimaging, and electrophysiological data of the patients were collected, and similarly, the data of all reported cases in the literature were extracted to compare findings. Screening a total of 9,662 articles, we identified 22 main regulatory processes for the MED23 gene, including suppressive activity for carcinogenic processes. MED23 is also involved in the brain's neurogenesis and functions. The identified cases mainly presented with intellectual disability (87.5%) and developmental delay (50%). Seizures were present in only 18.75% of the patients. Slow backgrounds and spike and sharp-wave complexes were reported on the electroencephalogram (EEG) of a few patients and delayed myelination, thin corpus callosum, and pontine hypoplasia on magnetic resonance imaging (MRI). The MED23 gene regulates several processes in which its understanding promotes considerable therapeutic potential for patients. It is crucial to consider genetic and laboratory testing, particularly when encountering potential carriers. Intellectual disability and developmental delay are the most notable clinical signs with heterogeneous features on EEG and MRI.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 5","pages":"500-507"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Balloon compression-induced spinal cord injury in canines: a large animal model for spinal cord injury research. 气球压迫诱发犬脊髓损伤：脊髓损伤研究的大型动物模型。

Journal of Medicine and Life Pub Date : 2024-05-01 DOI: 10.25122/jml-2023-0531

Yudha Mathan Sakti, Emir Riandika Samyudia, Deas Makalingga Emiri, Teguh Aryandono, Rahadyan Magetsari, Rusdy Ghazali Malueka, Ery Kus Dwianingsih

{"title":"Balloon compression-induced spinal cord injury in canines: a large animal model for spinal cord injury research.","authors":"Yudha Mathan Sakti, Emir Riandika Samyudia, Deas Makalingga Emiri, Teguh Aryandono, Rahadyan Magetsari, Rusdy Ghazali Malueka, Ery Kus Dwianingsih","doi":"10.25122/jml-2023-0531","DOIUrl":"10.25122/jml-2023-0531","url":null,"abstract":"Spinal cord injury (SCI) is a life-altering condition that severely impacts an individual's functional capabilities and has significant implications for both the individual and society. Large animal models are crucial for understanding the pathology and biomechanics of SCI. Dogs (Canis lupus familiaris) are promising models for SCI research due to their anatomical and histopathological similarities to humans. Balloon compression is an established method for inducing controlled SCI in canines. In this study, we optimized a balloon compression procedure for inducing SCI in dogs, aiming to develop a reliable model for future in vivo studies. Our methodology successfully induced total motoric loss in canines, observed for seven days, a critical period for therapeutic interventions. Histopathological examinations using Luxol fast blue (LFB) staining revealed total demyelination in intralesional samples, confirming the structural damage caused by balloon compression. We concluded that a balloon compression model at the T10-T11 vertebral level, with an inflated balloon volume of 1.0 ml, induced SCI while minimizing the risk of balloon rupture. Longer duration of compression ensures total paralysis in this model, providing a platform for testing therapeutic interventions during the acute phase of SCI. The canine model generated consistent data and facilitated straightforward observational findings.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 5","pages":"508-522"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0