Journal of Medicine and Life最新文献_第9页

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. 自闭症谱系障碍和癫痫患者的MACF1基因错义突变。

Journal of Medicine and Life Pub Date : 2024-11-01 DOI: 10.25122/jml-2024-0312

Alexandru Capisizu, Carmen Sandu, Roxana Maria Caragea, Adriana Sorina Capisizu

{"title":"A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy.","authors":"Alexandru Capisizu, Carmen Sandu, Roxana Maria Caragea, Adriana Sorina Capisizu","doi":"10.25122/jml-2024-0312","DOIUrl":"https://doi.org/10.25122/jml-2024-0312","url":null,"abstract":"The MACF1 gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the MACF1 gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with MACF1 mutations remains limited. We present the case of a 7-year-old girl, a long-term patient at the Pediatric Neurology Clinic of Dr. Alexandru Obregia Hospital in Bucharest, followed since the age of 3. She initially presented with epilepsy characterized by generalized seizures, clinically resembling both spasms and myoclonus. Over time, she exhibited features of a pervasive developmental disorder and moderate cognitive delay. Genetic testing identified a missense point mutation in the MACF1 gene, c.16223C > T, p.(Pro504Leu). Her final diagnosis was epilepsy with generalized seizures of non-lesional origin, moderate cognitive impairment, pervasive developmental disorder, and a confirmed point mutation in the MACF1 gene. This case underscores the importance of incorporating genetic testing into the diagnostic process for patients with autism spectrum disorder and epilepsy.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 11","pages":"1023-1029"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950162","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

Knowledge, attitudes, and practices of migraine management among primary health care physicians in Al-Madinah Al-Munawarah. 麦地那-穆纳瓦拉初级卫生保健医生偏头痛管理的知识、态度和实践。

Journal of Medicine and Life Pub Date : 2024-11-01 DOI: 10.25122/jml-2024-0350

Khalid Wasel Al-Quliti, Abdulelah Nawaf Alraddadi, Abdulmajeed Waleed Alnoaman, Mohammed Abdullah Alahmadi, Zakaria Yahya Khawaji, Waleed Khalid Alquliti, Sultan Abdulaziz Aljohani

{"title":"Knowledge, attitudes, and practices of migraine management among primary health care physicians in Al-Madinah Al-Munawarah.","authors":"Khalid Wasel Al-Quliti, Abdulelah Nawaf Alraddadi, Abdulmajeed Waleed Alnoaman, Mohammed Abdullah Alahmadi, Zakaria Yahya Khawaji, Waleed Khalid Alquliti, Sultan Abdulaziz Aljohani","doi":"10.25122/jml-2024-0350","DOIUrl":"https://doi.org/10.25122/jml-2024-0350","url":null,"abstract":"Migraine is a burdensome primary headache disorder with a global prevalence ranging from 15-18%. Our study aimed to assess the knowledge among primary healthcare physicians regarding migraine and evaluate whether their management practices align with current advances. This descriptive cross-sectional study included 212 primary healthcare physicians working in Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia. Data were collected using a self-administered, validated questionnaire distributed at clinics, with participant consent, to ensure privacy. A total of 212 responses were collected, the majority were from men (53.8%) and participants less than 30 years old (43.9%). Most participants held a Bachelor of Medicine, Bachelor of Surgery (MBBS) qualification (general practitioners), accounting for 56.1% of the sample. The results revealed that 83.5% had a high level of knowledge about the diagnostic criteria for migraine. Factors associated with a higher level of knowledge were female gender and age group less than 30 years. However, most participants (62.3%) were not familiar with the new acute and preventive migraine treatments. The findings of this study indicate good knowledge, attitude, and practicing habits among our participants. However, there were clear deficiencies in understanding the latest advancements in migraine treatment. We recommend implementing continuous education programs regarding the advances in migraine treatment among primary care physicians in Al-Madinah Al-Munawarah.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 11","pages":"1012-1019"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950166","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

Understanding the struggles of first-generation medical students and interns: a cross-sectional study in Saudi Arabia. 了解第一代医学生和实习生的挣扎：沙特阿拉伯的横断面研究。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0310

Zainab Alsuni, Asmah Alhubaishi, Ghaliah Othman, Fatemah Alghanem, Abeer Zakariyah, Jameel Bardesi, Hesham Rizk

{"title":"Understanding the struggles of first-generation medical students and interns: a cross-sectional study in Saudi Arabia.","authors":"Zainab Alsuni, Asmah Alhubaishi, Ghaliah Othman, Fatemah Alghanem, Abeer Zakariyah, Jameel Bardesi, Hesham Rizk","doi":"10.25122/jml-2024-0310","DOIUrl":"10.25122/jml-2024-0310","url":null,"abstract":"This study explored the experiences of first-generation and non-first-generation medical students in Saudi Arabia regarding their education, career aspirations, attitudes toward medical school, and perceived stress. We aimed to provide insights into the struggles faced by first-generation medical students. This cross-sectional study was conducted with 485 participants, 77.9% of whom were first-generation students. Data were collected using a questionnaire adapted from the Association of American Medical Colleges (AAMC) and analyzed using chi-square and Mann-Whitney tests. First-generation students were less decisive about future specialties, showed greater interest in taking the United States Medical Licensing Examination and the Professional and Linguistic Assessments Board exams, and expressed less interest in teaching roles than their non-first-generation counterparts. No significant differences were found in attitude, career considerations, quality of life, or daily activities. This study aligns with global calls for robust support programs, mentorship initiatives, and systemic interventions to enhance diversity and inclusivity in medical education. The research highlighted the importance of recognizing the diverse career aspirations and challenges first-generation medical students face. Tailored support programs are essential for fostering inclusivity in medical education, addressing unique needs, and enhancing students' overall well-being. Future research should continue to explore the factors influencing the experiences of first-generation and non-first-generation medical students to contribute to ongoing efforts to improve medical education.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"934-939"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885902","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

Impact of type 2 diabetes mellitus on the prevalence of apical periodontitis in endodontically treated and untreated teeth. 2型糖尿病对根管治疗和未治疗牙齿根尖牙周炎患病率的影响。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0330

Andreea Marica, Razvan Chirla, Mihai Porumb, Lucian Roman Sipos, Raluca Ortensia Cristina Iurcov, Simona Cavalu

{"title":"Impact of type 2 diabetes mellitus on the prevalence of apical periodontitis in endodontically treated and untreated teeth.","authors":"Andreea Marica, Razvan Chirla, Mihai Porumb, Lucian Roman Sipos, Raluca Ortensia Cristina Iurcov, Simona Cavalu","doi":"10.25122/jml-2024-0330","DOIUrl":"10.25122/jml-2024-0330","url":null,"abstract":"Apical periodontitis (AP) is a common dental condition that can be influenced by diabetes mellitus. This study aimed to investigate the impact of type 2 diabetes mellitus (T2DM) on the prevalence and severity of AP, considering the adequacy of endodontic treatments. A total of 180 patients selected based on specific dental criteria from a private clinic in Oradea, Romania, were included in this study. Clinical data were collected through medical records and panoramic radiographs. Statistical analyses were conducted using SPSS software, employing the Fisher test, Mann-Whitney test, and binary logistic regression to determine correlations between T2DM and AP in both endodontically treated and non-treated teeth. Additionally, we examined the relationship between diabetes and AP in teeth that received adequate root canal treatment (RCT), as well as the correlation of AP with the adequacy of endodontic treatment. Non-treated teeth were significantly more likely to have AP in patients with T2DM than in non-diabetic patients (OR = 5.3, P < 0.001). No significant difference in AP prevalence was observed between treated teeth in diabetic and non-diabetic patients. Inadequate RCT was associated with a higher incidence of AP, regardless of diabetes status (OR = 26.9, P < 0.001). The study concludes that DM significantly increases the risk of AP in untreated teeth, with diabetic patients showing a higher prevalence of AP than non-diabetic patients. However, this increased risk is not observed in adequately treated teeth. The quality of RCT is critical, as inadequate RCT is linked to a higher incidence of AP, regardless of diabetes status.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"918-925"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885846","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

Surgical, orthodontic, and prosthetic management of amelogenesis imperfecta associated with severe open bite: a case report. 外科、正畸和修复治疗严重开咬后淀粉原性不全：1例报告。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0259

Amel Labidi, Sana Bekri, Yosra Mabrouk, Sameh Rzigui, Ines Dallel, Ramzi Moatemri, Lamia Mansour

引用次数: 0

The impact of patient support and health education on diabetes management and glycemic control. 患者支持和健康教育对糖尿病管理和血糖控制的影响。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0290

Meshari Nawar Alotaibi, Aminah Saeed Almutairi, Fahad Abdulmajeed Alkhayal, Sulaiman Mohammed Alqahtani, Fatimah Nasser Alshehri, Mostafa Kofi

{"title":"The impact of patient support and health education on diabetes management and glycemic control.","authors":"Meshari Nawar Alotaibi, Aminah Saeed Almutairi, Fahad Abdulmajeed Alkhayal, Sulaiman Mohammed Alqahtani, Fatimah Nasser Alshehri, Mostafa Kofi","doi":"10.25122/jml-2024-0290","DOIUrl":"10.25122/jml-2024-0290","url":null,"abstract":"Diabetes mellitus is a chronic and complex medical condition that can lead to significant morbidity and mortality. Maintaining an adequate blood glucose level is important for patients with diabetes, and to improve glycemic control, patients need proper support and health education, which are essential components of comprehensive diabetes care. We used a rigorous approach based on the PRISMA and Cochrane Handbook principles, specifically focusing on randomized controlled trials (RCTs) published in English from 2005 onwards. The statistical analysis was conducted using the RevMan software. Pooled risk ratios were calculated for dichotomous data, whereas mean differences were calculated for continuous data. Heterogeneity and publication bias were also evaluated. From an initial pool of 544 records, 368 studies were examined after eliminating duplicates. Ultimately, 24 studies were deemed suitable based on the inclusion criteria. These studies involved 2437 participants in the intervention group and 2305 people in the control group. The quality assessment indicated that 41.7% of the studies were categorized as low risk, 16.7% as high risk, and 41.7% had certain concerns regarding bias. The analyses revealed noteworthy decreases in HbA1c levels in the intervention group at several time points, particularly showing improvements after 3 months. Egger's regression indicated the presence of possible publication bias. The results emphasize the crucial impact of health education and mentorship interventions on enhancing glycemic control in individuals with type 2 diabetes. Interventions focused on empowering patients proved to be especially effective in enhancing diabetes management outcomes.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"908-917"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885898","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

Primary pleural schwannoma: a rare case report. 原发性胸膜神经鞘瘤1例报道。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0308

Moaaz Amir, Salwa Sheikh

引用次数: 0

The correlation between the European System for Cardiac Operative Risk Evaluation and the Model for End-Stage Liver Disease in patients with coronary artery bypass graft surgery. 欧洲心脏手术风险评估系统与冠状动脉搭桥术患者终末期肝病模型的相关性

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0311

Andreea Ludusanu, Bogdan-Mihnea Ciuntu, Adelina Tanevski, Valentin Bernic, Grigore Tinica

{"title":"The correlation between the European System for Cardiac Operative Risk Evaluation and the Model for End-Stage Liver Disease in patients with coronary artery bypass graft surgery.","authors":"Andreea Ludusanu, Bogdan-Mihnea Ciuntu, Adelina Tanevski, Valentin Bernic, Grigore Tinica","doi":"10.25122/jml-2024-0311","DOIUrl":"10.25122/jml-2024-0311","url":null,"abstract":"The Model for End-Stage Liver Disease (MELD) score is a widely used tool for quantifying hepatic dysfunction, providing greater accuracy and a wider range of values compared to the Child-Turcotte-Pugh (CTP) score, being also used in prioritizing patients who are eligible for liver transplantation. This study assessed the correlation between the MELD score and the European System for Cardiac Operative Risk Evaluation II (EuroSCORE II), a reliable system for categorizing risk levels in patients undergoing cardiovascular surgery. This retrospective study analyzed data from 589 patients who underwent coronary artery bypass grafting (CABG) at the Institute of Cardiovascular Diseases 'Prof. Dr. George I.M. Georgescu' in Iași between January 2011 and December 2020. Data collected included demographical, clinical, biochemical, and intraoperative parameters. The average MELD score was 6.09 ± 4.1 (median = 5.72), and the average EuroSCORE II was 6.28 ± 8 (median = 3.85). A significant but relatively modest positive relationship was found between the MELD score and EuroSCORE II, with a correlation coefficient of 0.23 and a corresponding significance level of 0.001. This study demonstrates a positive correlation between MELD and EuroSCORE II in patients who underwent CABG. Incorporating the MELD score into the preoperative risk assessment of cardiac surgery patients could help identify high-risk individuals and guide clinical decision-making.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"926-933"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885894","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

Anxiety and stress among Vietnamese health workers during the emergence of the SARS-CoV-2 Omicron variant: a cross-sectional study. SARS-CoV-2染色体变异出现期间越南卫生工作者的焦虑和压力：一项横断面研究

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0275

Nguyen Van Hoat, Hoang Quynh Lien, Tran Quang Duc, Nguyen Bich Luu, Hoang Van Minh

{"title":"Anxiety and stress among Vietnamese health workers during the emergence of the SARS-CoV-2 Omicron variant: a cross-sectional study.","authors":"Nguyen Van Hoat, Hoang Quynh Lien, Tran Quang Duc, Nguyen Bich Luu, Hoang Van Minh","doi":"10.25122/jml-2024-0275","DOIUrl":"10.25122/jml-2024-0275","url":null,"abstract":"The prevalence and contributing factors of mental health issues among health workers in Vietnam during the early 2022 Omicron wave remain underexplored. This study investigated the prevalence and factors associated with anxiety and stress among health workers in a Vietnamese hospital during this period. A cross-sectional study, conducted from February 28 to April 14, 2022, at Hanoi Medical University Hospital, assessed anxiety and stress among 754 frontline health workers using the DASS-21 questionnaire via a Google survey. Logistic regression models were used to identify factors linked to anxiety and stress. Among healthcare workers, 22% experienced stress, and 33% anxiety. Multivariable logistic regression analysis revealed that direct contact with COVID-19 patients significantly increased the likelihood of experiencing stress (OR = 2.12, P < 0.01). Additionally, discrimination from relatives and friends was associated with higher odds of having anxiety (OR = 2.45, P < 0.001). Furthermore, a heavy workload significantly increased the odds of having anxiety (OR = 1.95, P < 0.001). Lastly, a lack of support from colleagues was linked to higher odds of experiencing stress (OR = 2.77, P < 0.05). The prevalence of mental health issues among Vietnamese health workers remained significant during the initial Omicron wave. Identified factors associated with these problems hold important policy implications for enhancing pandemic preparedness in Vietnam and worldwide.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"940-947"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885805","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

Gut microbiota profile and atopic dermatitis in the first year of life. 生命第一年肠道微生物群与特应性皮炎的关系。

Journal of Medicine and Life Pub Date : 2024-10-01 DOI: 10.25122/jml-2024-0287

Alexandru Cosmin Pantazi, Wassan Nori, Mustafa Ali Kassim Kassim, Adriana Luminita Balasa, Cristina Maria Mihai, Tatiana Chisnoiu, Larisia Mihai, Adina Ungureanu, Corina Elena Frecus, Sergiu Ioachim Chirila, Simona Claudia Cambrea

{"title":"Gut microbiota profile and atopic dermatitis in the first year of life.","authors":"Alexandru Cosmin Pantazi, Wassan Nori, Mustafa Ali Kassim Kassim, Adriana Luminita Balasa, Cristina Maria Mihai, Tatiana Chisnoiu, Larisia Mihai, Adina Ungureanu, Corina Elena Frecus, Sergiu Ioachim Chirila, Simona Claudia Cambrea","doi":"10.25122/jml-2024-0287","DOIUrl":"10.25122/jml-2024-0287","url":null,"abstract":"The connection between the immune response and the composition of gut microbiota has been associated with an increased prevalence of atopic dermatitis in the first year of life. The study aimed to investigate gut microbiota characteristics in infants with atopic dermatitis compared to healthy infants to better understand the link between early-life microbiota composition and the development of atopic dermatitis. The study analyzed the intestinal microbiota of 121 infants with clinical signs of atopic dermatitis, divided into Group I (infants with atopic dermatitis) and Group II (healthy controls). The study showed that infants with atopic dermatitis presented increased values of proteolytic bacteria mainly represented by Enterobacter species (P = 0.041), Klebsiella species (P = 0.038), and Escherichia coli (P = 0.013), with significantly decreased levels of acidifying bacteria represented by Enterococcus species, Lactobacillus and Bifidobacterium (P < 0.05) and normal levels of Clostridium species, Candida albicans, Mould fungi and Geotrichum species. This study highlights distinct differences in the gut microbiota of infants with atopic dermatitis, providing insights into the dynamic intestinal ecosystem during early life for future personalized therapeutic strategies.","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 10","pages":"948-952"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11665751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885808","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