Stephanie Pape, Kabiru Gulma, Siddharudha Shivalli, Laurent Cleenewerck de Kiev
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.
{"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}
Gheorghe Ungureanu, Alexandru Florian, Stefan Ioan Florian
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.
{"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}
Imad Mohammed Khojah, Noura Wagih Alazhary, Anas Saeed Alyazidi, Mohammed Abdullah Alsubaie, Maha Khider Alghamdi, Abdulkarim Abbas Jawhari
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.
{"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}
Mircea Bogdan Matei, Carmen Letitia Marinescu, Christien Oktaviani Matei, Alex-Sebastian Pînzariu, Leon Zăgrean, Mihaela Georgeta Moisescu
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.
{"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}
Viorel Țandea, Ionuț Daniel Răducan, Oana Neagu, Silviu Constantinoiu
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 17th 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.
{"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}
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 (P = 0.8). UPDRS item 4 scores correlated significantly with both latencies (P = 0.003 for the left eye and P <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.
{"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}
Robert Botea, Madalina Piron-Dumitrascu, Tiberiu Augustin Georgescu, Camil Laurentiu Bohiltea, Silviu Cristian Voinea, Valentin Nicolae Varlas, Simona Raluca Iacoban, Nicolae Suciu
Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, 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 PTEN, PIK3CA, TP53, MLH1, and MSH2. Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.
子宫内膜癌是一种受体细胞和种系突变影响的复杂疾病。虽然对 PTEN、PIK3CA 和 DNA 错配修复(MMR)系统成员等基因的单个突变进行了广泛研究,但对同一队列中的体细胞和种系突变进行比较的全面分析却很有限。本研究使用来自子宫内膜癌患者肿瘤和血液样本的全外显子测序(WES)数据对这些突变进行了比较。研究选取了 13 名经组织学确诊的子宫内膜癌女性患者。采集肿瘤组织和匹配的血液样本,在 CeGaT 实验室进行 WES 测序,然后使用 Geneyx 平台进行生物信息学分析和注释。WES 发现了重要的体细胞和种系 DNA 变异,并在 PTEN、PIK3CA、TP53、MLH1 和 MSH2 等基因中发现了关键的致病变异。比较分析表明,突变特征既有区别又有重叠,这凸显了在子宫内膜癌研究中整合体细胞和种系数据的重要性。
{"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}
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.
白内障手术是最成功的外科手术之一,这主要归功于近年来手术器械和眼内人工晶体(IOL)测量技术的发展。了解白内障患者的轴长(AL)和角膜度数(K)的性质对于术后准确选择人工晶体大小具有重要意义。本研究旨在测量沙特阿拉伯白内障手术患者的轴长和角膜厚度。这项回顾性研究包括在沙特阿拉伯麦地那接受白内障手术的患者。研究人员查阅了 2022 年 5 月至 2023 年 5 月期间成年患者的病历,排除了有视网膜脱离、屈光手术或外伤史的患者。AL和K读数来自患者的人工晶体主结果。共有 451 名患者的 691 只眼睛被纳入分析。平均年龄为 64.54 岁。大多数患者为女性(55%)。AL、K1 和 K2 的平均值分别为 23.27、43.42 和 44.69。我们使用线性回归分析来衡量 AL 和 K 之间的关系,结果显示两者之间存在反比关系。当 AL 增加一个单位时,平均 K 值估计会减少 0.548,置信区间为 95%。我们的研究结果表明,AL 和 K 之间存在反比关系,这意味着当 AL 增加时,K 会减小,或者说角膜曲率会变平。需要进一步研究这种关系的生物力学机制。
{"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}
{"title":"The 13<sup>th</sup> World Congress for Neurorehabilitation, 22 - 25 May, Vancouver, Canada - <i>Advancing Neurorehabilitation across Time(s) and Continents</i>.","authors":"Alexandra Gherman, Dafin Fior Muresanu","doi":"10.25122/jml-2024-1009","DOIUrl":"10.25122/jml-2024-1009","url":null,"abstract":"","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"543-548"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289320","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}
Andra Oltean, Andrei Manea, Aurel Nireştean, Raluca Niculescu, Mircea Gîrbovan, Elena Gabriela Strete
Individual personality refers to the Ego and the interpersonal sector. The Ego corresponds to consciousness and self-esteem, including the capacities for emotional self-regulation, self-control, self-evaluation, and self-direction in relation to personal goals. When neoplastic and psychiatric diseases coexist, a patient's quality of life is significantly impacted. While there are somatic differences in disease progression, how the illness is perceived and mainly experienced depends on personality traits. In this study, we administered the DECAS Personality Inventory (a Romanian-validated instrument based on the Five-Factor model of personality) to a group of 121 patients diagnosed with breast cancer to explore the relationships among their personality traits. Descriptive statistics revealed that the mean T scores for openness, extroversion, and emotional stability were low, while the scores for conscientiousness and agreeableness were at an average level. Our findings suggest that, in the studied group, low levels of emotional stability, extroversion, and openness were unfavorable personality dimensions that should be a primary focus of therapeutic strategies, as they significantly affect the quality of life in patients with breast cancer.
个人人格指的是 "自我 "和人际关系。自我与意识和自尊相对应,包括与个人目标相关的情绪自我调节、自我控制、自我评价和自我导向能力。当肿瘤性疾病和精神疾病并存时,患者的生活质量会受到严重影响。虽然疾病的发展存在躯体差异,但对疾病的感知和体验主要取决于人格特质。在这项研究中,我们对 121 名确诊为乳腺癌的患者进行了 DECAS 人格问卷调查(这是一个经过罗马尼亚验证的基于人格五因素模型的工具),以探讨他们的人格特质之间的关系。描述性统计显示,开放性、外向性和情绪稳定性的平均 T 分数较低,而自觉性和合意性的分数处于平均水平。我们的研究结果表明,在所研究的群体中,低水平的情绪稳定性、外向性和开放性是不利的人格维度,应该成为治疗策略的重点,因为它们会严重影响乳腺癌患者的生活质量。
{"title":"Personality interferences in the pathology of breast cancer: a cross-sectional single-center study.","authors":"Andra Oltean, Andrei Manea, Aurel Nireştean, Raluca Niculescu, Mircea Gîrbovan, Elena Gabriela Strete","doi":"10.25122/jml-2024-0302","DOIUrl":"https://doi.org/10.25122/jml-2024-0302","url":null,"abstract":"<p><p>Individual personality refers to the Ego and the interpersonal sector. The Ego corresponds to consciousness and self-esteem, including the capacities for emotional self-regulation, self-control, self-evaluation, and self-direction in relation to personal goals. When neoplastic and psychiatric diseases coexist, a patient's quality of life is significantly impacted. While there are somatic differences in disease progression, how the illness is perceived and mainly experienced depends on personality traits. In this study, we administered the DECAS Personality Inventory (a Romanian-validated instrument based on the Five-Factor model of personality) to a group of 121 patients diagnosed with breast cancer to explore the relationships among their personality traits. Descriptive statistics revealed that the mean T scores for openness, extroversion, and emotional stability were low, while the scores for conscientiousness and agreeableness were at an average level. Our findings suggest that, in the studied group, low levels of emotional stability, extroversion, and openness were unfavorable personality dimensions that should be a primary focus of therapeutic strategies, as they significantly affect the quality of life in patients with breast cancer.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"17 6","pages":"588-592"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289317","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}