Journal of Medicine and Life最新文献

筛选
英文 中文
Risk factors for 3-year mortality in selected patients with Parkinson's disease from a Romanian cohort. 罗马尼亚队列中部分帕金森病患者 3 年死亡率的风险因素。
Journal of Medicine and Life Pub Date : 2024-07-01 DOI: 10.25122/jml-2024-0332
Diana Sipos-Lascu, Ștefan Cristian Vesa, Ionel-Lucian Stan, Nicu-Catalin Draghici, Lacramioara Perju-Dumbravă
{"title":"Risk factors for 3-year mortality in selected patients with Parkinson's disease from a Romanian cohort.","authors":"Diana Sipos-Lascu, Ștefan Cristian Vesa, Ionel-Lucian Stan, Nicu-Catalin Draghici, Lacramioara Perju-Dumbravă","doi":"10.25122/jml-2024-0332","DOIUrl":"10.25122/jml-2024-0332","url":null,"abstract":"<p><p>This study aimed to identify and analyze factors associated with a higher risk of 3-year mortality in patients with Parkinson's disease (PD) within a Romanian cohort, focusing on individuals with more advanced disease stages as indicated by the Hoehn and Yahr scale. We conducted a cross-sectional observational study on 42 patients with PD treated at the Neurology Clinic I, Cluj-Napoca County Emergency Clinical Hospital, between October 2019 and January 2021. All participants were at stages 2.5 or 3 on the Hoehn and Yahr scale at baseline. Various clinical, neuropsychological, and neurophysiological assessments were performed, including evaluations for motor and non-motor symptoms such as anhedonia (via the Snaith-Hamilton Pleasure Scale - SHAPS) and cognitive impairment. The use of antiparkinsonian medications and antidepressants was also recorded. Factors associated with higher mortality risk included a higher anhedonia score (SHAPS > 34; <i>P</i> = 0.03), higher levodopa doses (cutoff = 937.5 mg; <i>P</i> = 0.001), and the administration of mirtazapine (<i>P</i> = 0.04). These findings indicate that non-motor symptoms like anhedonia, along with higher medication doses and specific treatments, play a significant role in influencing mortality risk in advanced PD. This study highlights the multifaceted nature of mortality risk in patients with PD, particularly emphasizing the role of non-motor symptoms and pharmacological treatment. Tailored therapeutic strategies, including closer monitoring of anhedonia and careful management of medication dosages, may be essential in reducing mortality and improving patient outcomes in advanced stages of PD.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 7","pages":"696-700"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142516481","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 breast tuberculosis mimicking breast cancer: an original study of imaging findings and differential diagnosis challenges. 模仿乳腺癌的原发性乳腺结核:影像学发现和鉴别诊断难题的原创性研究。
Journal of Medicine and Life Pub Date : 2024-07-01 DOI: 10.25122/jml-2024-0333
Ana-Maria Mihai, Laura Maria Ianculescu, Dragoș Crețoiu, Nicolae Suciu
{"title":"Primary breast tuberculosis mimicking breast cancer: an original study of imaging findings and differential diagnosis challenges.","authors":"Ana-Maria Mihai, Laura Maria Ianculescu, Dragoș Crețoiu, Nicolae Suciu","doi":"10.25122/jml-2024-0333","DOIUrl":"10.25122/jml-2024-0333","url":null,"abstract":"<p><p>Breast tuberculosis is a rare extrapulmonary manifestation of <i>Mycobacterium tuberculosis</i>, representing less than 0.1% of all breast pathologies in developed countries. However, in regions with high tuberculosis prevalence, such as India and Africa, its incidence is higher. The disease poses diagnostic challenges due to its ability to mimic breast carcinoma, leading to potential misdiagnosis and unnecessary surgical interventions. This study investigates the clinical and imaging characteristics of breast tuberculosis in a large cohort, with a specific focus on a rare case in a postmenopausal woman. A retrospective observational study was conducted on 1704 women who presented for mammography at the Alessandrescu-Rusescu National Institute for Mother and Child Health between 2019 and 2021. Clinical presentation, imaging results, and histopathological findings were analyzed to identify cases of breast tuberculosis. The study includes a comparative analysis with other granulomatous diseases and malignant breast conditions to highlight key diagnostic features. Among the 1704 patients, 714 (41.9%) presented with symptoms such as pain (35.4%), palpable lumps (13.2%), nipple discharge (4.3%), and breast appearance changes (2.1%). A rare case of primary breast tuberculosis was identified in a 69-year-old postmenopausal woman, presenting with a painless, palpable mass in the upper outer quadrant. Imaging demonstrated a hypoechoic mass with fine granular content and posterior acoustic enhancement, categorized as BIRADS 4A. The biopsy confirmed the diagnosis of breast tuberculosis. This study underscores the diagnostic complexity of breast tuberculosis, particularly in its ability to mimic malignancy. Through detailed imaging and clinical analysis, we emphasize the importance of biopsy in differentiating tuberculosis from breast cancer. Given the potential for misdiagnosis, clinicians should consider breast tuberculosis in differential diagnoses, especially in regions with high tuberculosis prevalence. Further research is needed to develop specific imaging criteria for earlier and more accurate diagnosis.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 7","pages":"710-715"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502170","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
Diagnostic accuracy of active pulmonary tuberculosis screening during detention admission: a systematic review. 拘留期间活动性肺结核筛查的诊断准确性:系统综述。
Journal of Medicine and Life Pub Date : 2024-07-01 DOI: 10.25122/jml-2024-0155
Stephanie Pape, Kabiru Gulma, Siddharudha Shivalli, Laurent Cleenewerck de Kiev
{"title":"Diagnostic accuracy of active pulmonary tuberculosis screening during detention admission: a systematic review.","authors":"Stephanie Pape, Kabiru Gulma, Siddharudha Shivalli, Laurent Cleenewerck de Kiev","doi":"10.25122/jml-2024-0155","DOIUrl":"10.25122/jml-2024-0155","url":null,"abstract":"<p><p>Individuals entering incarceration are at high risk for infectious diseases, other ill conditions, and risky behavior. Typically, the status of active pulmonary tuberculosis (PTB) is not known at the time of admission. Early detection and treatment are essential for effective TB control. So far, no study has compared the diagnostic accuracy of various TB screening tools in detention using a network meta-analysis (NMA). We aimed to investigate the diagnostic accuracy of active PTB screening tests upon detention admission. We searched PubMed, Global Index Medicus, the Cochrane Library electronic databases, and grey literature for publications reporting detention TB entry screening in March 2022 and January 2024. Inclusion was non-restrictive regarding time, language, location, reference standards, or screening tests. Eligible study designs comprised comparative, observational, and diagnostic studies. Publications had to report TB screening of individuals entering confinement and provide data for diagnostic accuracy calculations. The QUADAS-2 tool was designed to assess the quality of primary diagnostic accuracy studies. This systematic review was registered with PROSPERO (CRD42022307863) and conducted without external funding. We screened a total of 2,455 records. Despite extensive searching, no studies met our inclusion criteria. However, we identified evidence revealing key differences in screening algorithm application. In conclusion, more diagnostic accuracy data on TB screening algorithms for detention admission worldwide needs to be collected. We recommend that global TB initiatives set up multi-site studies to investigate the diagnostic accuracy of TB screening on admission in low- and high-prevalence criminal justice systems. Further network meta-analyses of these studies could inform policymakers and public health experts to establish or fine-tune TB control in detention settings.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 7","pages":"671-681"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502266","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
The impact of arachnoid structures on skull-base meningioma surgical management: a radiological analysis and narrative review. 蛛网膜结构对颅底脑膜瘤手术治疗的影响:放射学分析和综述。
Journal of Medicine and Life Pub Date : 2024-07-01 DOI: 10.25122/jml-2024-0349
Gheorghe Ungureanu, Alexandru Florian, Stefan Ioan Florian
{"title":"The impact of arachnoid structures on skull-base meningioma surgical management: a radiological analysis and narrative review.","authors":"Gheorghe Ungureanu, Alexandru Florian, Stefan Ioan Florian","doi":"10.25122/jml-2024-0349","DOIUrl":"https://doi.org/10.25122/jml-2024-0349","url":null,"abstract":"<p><p>The presence of intact arachnoid membranes between skull base meningiomas and critical neurovascular structures is crucial for predicting surgical outcomes, understanding tumor development and growth, and planning the feasibility of tumor resection or the need for adjuvant treatments. While neurosurgeons often utilize the subarachnoid cisterns to enhance access to these tumors and facilitate their removal, a comprehensive review aimed at health professionals involved in the diagnosis and treatment of this complex pathology, including radiologists, neurologists, oncologists, ophthalmologists, and neurosurgeons is still lacking. This study aims to summarize the interaction between skull base meningiomas, subarachnoid cisterns, and arachnoid membranes, emphasizing their significance in both the diagnosis and treatment of this pathology. By conducting a thorough radiological assessment of skull base meningiomas, correlating these findings with intraoperative observations, and reviewing relevant literature, we summarize the critical relationship between skull base meningiomas and the surrounding subarachnoid spaces. We concisely describe how arachnoid structures influence tumor growth and interaction with neurovascular elements. We advocate for the inclusion of tumor-arachnoid relationships in the medical literature concerning the treatment of these tumors. A better understanding and description of the interaction between tumors and neurovascular structures will aid in planning and attempting safer treatments, minimizing surgical risks, predicting potential tumor progression, and the need for adjuvant treatments.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 7","pages":"682-689"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502176","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
Pediatric respiratory infectious emergencies: clinical profiles and outcomes. 小儿呼吸道传染急症:临床概况和结果。
Journal of Medicine and Life Pub Date : 2024-07-01 DOI: 10.25122/jml-2024-0044
Imad Mohammed Khojah, Noura Wagih Alazhary, Anas Saeed Alyazidi, Mohammed Abdullah Alsubaie, Maha Khider Alghamdi, Abdulkarim Abbas Jawhari
{"title":"Pediatric respiratory infectious emergencies: clinical profiles and outcomes.","authors":"Imad Mohammed Khojah, Noura Wagih Alazhary, Anas Saeed Alyazidi, Mohammed Abdullah Alsubaie, Maha Khider Alghamdi, Abdulkarim Abbas Jawhari","doi":"10.25122/jml-2024-0044","DOIUrl":"https://doi.org/10.25122/jml-2024-0044","url":null,"abstract":"<p><p>Infectious diseases are among the most frequent causes of hospital admission and a substantial contributor to morbidity and mortality. These diseases pose a persistent concern, particularly within the pediatric population, where delays or inappropriate management can result in serious harm. Additionally, infectious diseases contribute to overcrowding in pediatric emergency departments (EDs). This study aimed to explore the epidemiology, clinical presentation, diagnostics, outcome, and social and behavioral impacts of infectious diseases on child health. We conducted a retrospective, single-hospital study at a tertiary care center that is publicly funded and owned to serve the entire community. Pediatric patients with at least one or more chief complaints related to the respiratory system or infectious etiology were included. Data analysis was performed using SPSS to assess relationships between variables. A total of 15,106 patients were included, with a mean age of 3.80 years. The largest age group was toddlers (42.8%). Most cases (71.9%) were classified as urgent (Priority 3). Regarding patient outcomes, 76.1% were discharged after receiving appropriate treatment in the ED, and 22.9% required admission for further management. Nearly 38% of patients presented with a single complaint. Fever was the most frequent complaint across all groups. In summary, this study provides insights into the presentation of pediatric respiratory infectious diseases in the emergency room. The study revealed that toddlers were the most affected age group, with fever and cough being the common symptoms.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 7","pages":"716-721"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502268","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
Cost-effective optimized method to process 3D tumoral spheroids in microwell arrays for immunohistochemistry analysis. 在微孔阵列中处理三维肿瘤球体以进行免疫组化分析的经济高效的优化方法。
Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0267
Mircea Bogdan Matei, Carmen Letitia Marinescu, Christien Oktaviani Matei, Alex-Sebastian Pînzariu, Leon Zăgrean, Mihaela Georgeta Moisescu
{"title":"Cost-effective optimized method to process 3D tumoral spheroids in microwell arrays for immunohistochemistry analysis.","authors":"Mircea Bogdan Matei, Carmen Letitia Marinescu, Christien Oktaviani Matei, Alex-Sebastian Pînzariu, Leon Zăgrean, Mihaela Georgeta Moisescu","doi":"10.25122/jml-2024-0267","DOIUrl":"https://doi.org/10.25122/jml-2024-0267","url":null,"abstract":"<p><p>This study presents an improved method for obtaining spheroids microwell arrays for histological processing and analysis, focusing on glioblastoma (U87 MG) and breast adenocarcinoma (MCF-7) tumor models. By transitioning from traditional 2D cell cultures to 3D systems, this approach overcomes the limitations of 2D cultures by more accurately replicating the tumor microenvironment. The method consists of producing homotypic and heterotypic spheroids using low-adherence agarose-coated wells, embedding these spheroids in agarose microwell arrays, and conducting immunohistochemistry (IHC) to analyze cellular and molecular profiles. Morphological analyses were performed using OrganoSeg software, and IHC staining confirmed marker expressions consistent with respective tumor types. The study details the workflow from 2D cell culture to IHC analysis, including agarose well coating, spheroid embedding, and IHC staining for markers such as EMA, p53, Ki-67, ER, PR, and HER2. Results demonstrated compact, round U87 MG spheroids and fibroblast-stabilized MCF-7 spheroids, with both types exhibiting specific marker expressions. This innovative approach significantly enhances the efficiency of producing and analyzing large volumes of spheroids, making it both quick and cost-effective. It offers a robust drug screening and cancer research platform, maintaining spheroid traceability even in bulk workflow conditions. Furthermore, this methodology supports advances in personalized medicine by providing a more physiologically relevant model than 2D cultures, which is crucial for investigating tumor behavior and therapeutic responses through IHC.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"601-609"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289312","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
Therapeutic approaches in Hirschsprung's disease: clinical cases. 赫氏胃肠病的治疗方法:临床病例。
Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0307
Viorel Țandea, Ionuț Daniel Răducan, Oana Neagu, Silviu Constantinoiu
{"title":"Therapeutic approaches in Hirschsprung's disease: clinical cases.","authors":"Viorel Țandea, Ionuț Daniel Răducan, Oana Neagu, Silviu Constantinoiu","doi":"10.25122/jml-2024-0307","DOIUrl":"10.25122/jml-2024-0307","url":null,"abstract":"<p><p>Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon, resulting in impaired peristalsis and functional intestinal obstruction. This condition affects approximately 1 in 5,000 newborns, with a higher prevalence in boys. Although first identified in the 17<sup>th</sup> century, its connection to chronic constipation was clearly established by Harald Hirschsprung in 1886. Contemporary treatment strategies emphasize early diagnosis, surgical excision of the aganglionic segment, and specialized postoperative care to restore normal colonic function and improve the quality of life for affected individuals. This article reviews current therapeutic strategies, highlighting advanced surgical techniques, diagnostic methods, and postoperative management. Two clinical cases illustrate the impact and treatment of the disease. The first case involves a 5-month-old male with severe malnutrition, dehydration, and acute enterocolitis, who underwent a right-side colostomy and later a Duhamel-type extramucosal sphincter-rectal-myotomy, showing favorable progress. The second case is a 1.5-year-old patient with a history of colostomy and ileostomy, requiring further surgery. Histopathological examinations in both cases revealed the absence of ganglion cells, confirming the diagnosis of Hirschsprung's disease.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"644-648"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289332","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
Decoding visual evoked potential latency: revealing neurological connections in Parkinson's disease. 解码视觉诱发电位潜伏期:揭示帕金森病的神经联系。
Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0319
Diana Sipos-Lascu, Ştefan Cristian Vesa, Nicu-Catalin Draghici, Livia Livint Popa, Lacramioara Perju-Dumbrava
{"title":"Decoding visual evoked potential latency: revealing neurological connections in Parkinson's disease.","authors":"Diana Sipos-Lascu, Ştefan Cristian Vesa, Nicu-Catalin Draghici, Livia Livint Popa, Lacramioara Perju-Dumbrava","doi":"10.25122/jml-2024-0319","DOIUrl":"10.25122/jml-2024-0319","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a complex neurodegenerative disorder characterized by diverse motor and non-motor symptoms. Visual evoked potentials (VEPs) provide valuable insights into the neurological changes in PD. This study examines VEP latency to explore potential connections between visual processing and PD progression, focusing on whether inter-eye latency differences are influenced by disease severity and symptomatology. A cross-sectional observational study was conducted with 59 PD patients at the Neurology I Clinic, Cluj-Napoca County Emergency Clinical Hospital, from October 2019 to October 2021. Patients underwent neurological and psychological evaluations, including VEP testing with a reversal pattern technique. P100 wave latency was assessed for both eyes, and associations with clinical indicators like Hoehn and Yahr stages, UPDRS scores, and non-motor symptoms were analyzed. VEP latencies for the right and left eyes were 108.7 ± 10.6 ms and 108.4 ± 9.7 ms, respectively, with no significant inter-eye differences (<i>P</i> = 0.8). UPDRS item 4 scores correlated significantly with both latencies (<i>P</i> = 0.003 for the left eye and <i>P</i> <0.001 for the right). Latency differences between eyes were shorter in patients with symmetrical parkinsonism compared to those with unilateral predominance. Age correlated weakly with P100 latency, and a weak correlation was found between anhedonia scores and right-eye latency. VEP latency is sensitive to PD motor severity, with shorter inter-eye latency differences in symmetrical parkinsonism, suggesting balanced dopaminergic dysfunction. VEP latency differences offer insights into neurophysiological changes in PD, reflecting dopaminergic dysfunction and its impact on visual processing. These findings support the potential of VEPs as diagnostic and prognostic tools in PD assessment.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"639-643"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289313","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
Somatic and germline mutations in endometrial cancer. 子宫内膜癌中的体细胞和种系突变。
Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0313
Robert Botea, Madalina Piron-Dumitrascu, Tiberiu Augustin Georgescu, Camil Laurentiu Bohiltea, Silviu Cristian Voinea, Valentin Nicolae Varlas, Simona Raluca Iacoban, Nicolae Suciu
{"title":"Somatic and germline mutations in endometrial cancer.","authors":"Robert Botea, Madalina Piron-Dumitrascu, Tiberiu Augustin Georgescu, Camil Laurentiu Bohiltea, Silviu Cristian Voinea, Valentin Nicolae Varlas, Simona Raluca Iacoban, Nicolae Suciu","doi":"10.25122/jml-2024-0313","DOIUrl":"https://doi.org/10.25122/jml-2024-0313","url":null,"abstract":"<p><p>Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as <i>PTEN, PIK3CA</i>, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as <i>PTEN, PIK3CA, TP53, MLH1</i>, and <i>MSH2</i>. Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"564-573"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289318","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
Axial length and keratometry characteristics of patients undergoing cataract surgery in Saudi Arabia. 沙特阿拉伯白内障手术患者的轴向长度和角膜测量特征。
Journal of Medicine and Life Pub Date : 2024-06-01 DOI: 10.25122/jml-2024-0122
Ghada Aljuhani, Mona Alharbi, Rami Alsaidi, Abeer Alharbi
{"title":"Axial length and keratometry characteristics of patients undergoing cataract surgery in Saudi Arabia.","authors":"Ghada Aljuhani, Mona Alharbi, Rami Alsaidi, Abeer Alharbi","doi":"10.25122/jml-2024-0122","DOIUrl":"https://doi.org/10.25122/jml-2024-0122","url":null,"abstract":"<p><p>Cataract surgery is one of the most successful surgical procedures, mainly due to the recent developments in surgical instruments and intraocular lens (IOL) measurements. Understanding the nature of axial length (AL) and keratometry readings (K) in patients with cataracts has significant implications for accurate postoperative IOL size selection. This study aimed to measure AL and K in patients undergoing cataract surgery in Saudi Arabia. This retrospective study included patients who underwent cataract surgery in Madinah, Saudi Arabia. The medical records of adult patients between May 2022 and May 2023 were reviewed, and those with a history of retinal detachment, refractive surgery, or trauma were excluded. The AL and K readings were obtained from the patient's IOL master results. A total of 691 eyes from 451 patients were included in the analysis. The mean age was 64.54 years old. Most of the patients were women (55%). The mean AL, K1, and K2 values were 23.27, 43.42, and 44.69, respectively. Linear regression analysis was used to measure the relationship between AL and K, revealing an inverse relationship in our findings. As AL increased by one unit, the mean K was estimated to decrease by 0.548, with a 95% confidence interval. Our results demonstrated an inverse relationship between AL and K, implying that when AL increases, K decreases, or the corneal curvature becomes flat. Further studies are needed to investigate the biomechanical mechanisms underlying this relationship.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"620-624"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289395","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信