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Cytogenetic spectrum and clinical presentation of Klinefelter syndrome: A comprehensive study from South India Klinefelter综合征的细胞遗传学谱和临床表现:一项来自南印度的综合研究
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2024.09.007
Madhu Balaji Sivakumar , Paresh Singhal , Gajanan Bhanudas Padmawar , Nitin Kapoor , Felix Kumaradoss Jebasingh , Hesaraghatta Shyamsundar Asha , Sumita Danda , Anna Simon , Nihal Thomas , Vivi M. Srivastava

Background

Klinefelter syndrome (KS) is a common sex chromosome abnormality that mostly presents as testicular failure and a myriad of other clinical features. The phenotypic features and their severity vary between individuals, age groups and cytogenetic subtypes. Karyotyping remains the method of choice for the diagnosis of KS despite advanced molecular testing in this modern era. The objective of this study was to determine the cytogenetic subtypes, clinical presentation and hormonal profile of patients with KS.

Methods

Retrospective observational study comprised patients with KS determined by cytogenetic analysis at the tertiary care centre in south India from 2001 to 2019. Clinical details including testicular size, hormone levels and semen analysis were obtained from the medical records.

Results

There were 147 KS (145 post-natal and 2 pre-natal) patients ranging in age from two days to 51 years, 116 (74.8%) patients being ≥18 years. Classic (cKS), mosaic (mKS) and variant KS (vKS) accounted for 126 (85.7%), 9 (6.1%) and 12 (8.2%) cases and their mean ages were 26.6, 29.6 and 12.8 years, respectively. cKS and mKS had diverse clinical presentations including several co-morbidities of which small testes were most common (94.8%). vKS presented with behavioural problems (58.3%) without any comorbidities. Testosterone (p < 0.05), FSH and LH levels were abnormal in >90% of patients.

Conclusion

All three cytogenetic subtypes of KS were seen in our patients. cKS was seen in all ages, mKS was common in adults and vKS was seen predominantly in children. Early diagnosis of KS and timely medical intervention may alter the clinical outcomes and improve the quality of life.
klinefelter综合征(KS)是一种常见的性染色体异常,主要表现为睾丸功能衰竭和无数其他临床特征。表型特征及其严重程度因个体、年龄组和细胞遗传亚型而异。核型仍然是选择的方法诊断KS尽管先进的分子测试在这个现代时代。本研究的目的是确定KS患者的细胞遗传学亚型、临床表现和激素谱。方法回顾性观察研究纳入2001年至2019年在印度南部三级保健中心通过细胞遗传学分析确定的KS患者。临床细节包括睾丸大小、激素水平和精液分析都是从医疗记录中获得的。结果147例KS患者(产后145例,产前2例),年龄2 ~ 51岁,年龄≥18岁116例(74.8%)。典型型(ck) 126例(85.7%),嵌合型(mKS) 9例(6.1%),变异型(vKS) 12例(8.2%),平均年龄分别为26.6岁、29.6岁和12.8岁。ck和mKS有多种临床表现,包括几种合并症,其中睾丸小最常见(94.8%)。vKS表现为行为问题(58.3%),无任何合并症。90%的患者睾酮(p < 0.05)、FSH和LH水平异常。结论三种细胞遗传学亚型均见于本组患者。ck在所有年龄段均可见,mKS常见于成人,而vKS主要见于儿童。KS的早期诊断和及时的医疗干预可以改变临床结果和改善生活质量。
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引用次数: 0
Peripheral edema associated with the combination of mirtazapine and escitalopram 外周水肿与米氮平和艾司西酞普兰联合使用有关
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2025.02.006
MD Niyaz , SP Panda , Neha Sharma , Manisha Jindal
Escitalopram is a broadly used Food and Drug Administration-approved Selective Serotonin Reuptake Inhibitor (SSRI) for major depressive disorder and generalised anxiety disorder. Peripheral edema associated with this drug is documented in limited literature, with only seven studies identified, two originating from India.1,2 The primary proposed etiology for this side effect is increased vascular permeability, potentially due to an idiosyncratic reaction linked to the drug's serotonergic effects. Mechanisms thought to contribute include serotonergic 5HT2A antagonism and α1 antagonism. However, a definitive cause or mechanism remains unestablished, highlighting the need for further investigation into this side effect. This report discusses a rare case of peripheral edema in a young female patient, emphasizing the importance of recognizing rare adverse reactions in diverse populations. Enhanced awareness and continued research could lead to better understanding and management of this uncommon yet notable side effect of escitalopram.
艾司西酞普兰是一种广泛使用的食品和药物管理局批准的选择性血清素再摄取抑制剂(SSRI),用于治疗重度抑郁症和广泛性焦虑症。与该药相关的外周水肿在有限的文献中被记录,只有7项研究被确定,其中2项来自印度。1,2该副作用的主要原因是血管通透性增加,可能是由于与该药的血清素能作用相关的特殊反应。其机制包括5 -羟色胺能5HT2A拮抗剂和α1拮抗剂。然而,一个明确的原因或机制仍未确定,强调需要进一步调查这一副作用。本报告讨论了一例罕见的外周水肿的年轻女性患者,强调了在不同人群中认识罕见不良反应的重要性。提高认识和继续研究可以更好地理解和管理艾司西酞普兰这种不常见但显著的副作用。
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引用次数: 0
Unraveling the mystery of gastric nodular mass: A rare case highlighting the diagnostic challenge of metastatic amelanotic melanoma 解开胃结节肿块之谜:一个罕见的病例,突出了转移性无色素黑色素瘤的诊断挑战
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2024.12.007
Mangesh Londhe , Neil Abhay Shah , Sushama Gurwale , Charusheela Gore
Melanoma is a tumor generated by the malignant alteration of melanocytes. Metastatic melanoma has the potential to impact every organ in the human body, the site of metastasis in descending order being skin, lung, brain, liver, bone, and lastly the intestine, gastric metastases being extremely rare. Hence, we present a case of a 73 years male patient with gastric nodular lesion creating diagnostic dilemma. Clinical and immunohistochemical (IHC) evaluation cleared this mystery, revealing a definitive diagnosis of metastatic amelanotic melanoma. Amidst the prevalence of sophisticated diagnostic methods, the fundamental process of gathering medical history and conducting clinical assessments is frequently overlooked. This case emphasizes the importance of the fundamental process of gathering medical history and conducting clinical assessments, which, along with histopathology examination (HPE) and IHC, resulted in a definitive diagnosis. Due to the infrequent occurrence of gastric metastasis of amelanotic melanoma and its unfavorable prognosis, accurate detection is imperative for effective patient management.
黑色素瘤是一种由黑色素细胞恶性改变而产生的肿瘤。转移性黑色素瘤有可能影响人体的每一个器官,转移部位由高到低依次是皮肤、肺、脑、肝、骨,最后是肠,胃转移极为罕见。因此,我们提出一个73岁的男性病人胃结节病变造成诊断困境。临床和免疫组织化学(IHC)评估清除了这个谜团,揭示了转移性无色素黑色素瘤的明确诊断。在复杂的诊断方法盛行的同时,收集病史和进行临床评估的基本过程经常被忽视。本病例强调了收集病史和进行临床评估的基本过程的重要性,该过程与组织病理学检查(HPE)和免疫组化检查(IHC)一起产生了明确的诊断。由于无色素黑色素瘤胃转移少见且预后不良,准确的检测对于有效的患者管理至关重要。
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引用次数: 0
Intensive care unit handover: Are we doing it right? 重症监护病房交接:我们做得对吗?
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2025.01.013
Shaurya Kumar
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引用次数: 0
New minds, shared vision: Consolidating editorial expertise 新思想,共同愿景:巩固编辑专业知识
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2025.12.008
Atul Seth , Vivek Aggarwal
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引用次数: 0
Pattern of interstitial lung disease in Southern India: A retrospective study 印度南部间质性肺疾病的模式:一项回顾性研究
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2025.03.001
Supriya Adiody , Krishnanand K K , Vishnu Narayanan S

Background

Interstitial lung diseases (ILDs) refer to a diverse group of acute and chronic lung conditions characterised by inflammation and fibrosis of the lung tissue. Limited information is available regarding the clinical patterns and profiles of ILDs in South India, and registry data in this region remain sparse. With advancements in the understanding of ILDs over time, establishing dedicated registries in India has become essential in improving the management and care of these conditions. The objective of our study was to understand the common ILD patterns in Southern India, appreciation of demographic characteristics of patients diagnosed with ILD and to demonstrate the feasibility of creating a large prospective registry for ILD.

Methods

This retrospective observational study was carried out in central Kerala over a duration of one year. A total of 100 patients were included in the study. Patients on treatment for tuberculosis (TB) and malignancy and patients with incomplete data were excluded. The data were analysed by Microsoft excel software and SPSS 19 version.

Results

Out of 100 patients enrolled in the study, 62 were females. Connective tissue disease–related ILD was the commonest ILD (36 percent) followed by idiopathic pulmonary fibrosis (IPF) (34 percent). High-resolution computed tomography (HRCT) pattern showed a preponderance of usual interstitial pneumonia (50 percent) followed by the nonspecific interstitial pneumonia.

Conclusion

The need for a wide, possibly pan Indian and global ILD registry needs to be advocated and this might represent a possible game-changing step in the management of this otherwise, underdiagnosed condition.
肺间质性疾病(ILDs)是指以肺组织炎症和纤维化为特征的多种急性和慢性肺部疾病。关于南印度ILDs的临床模式和概况的信息有限,该地区的登记数据仍然稀少。随着时间的推移,对ILDs的认识不断提高,在印度建立专门的登记处对于改善这些疾病的管理和护理至关重要。我们研究的目的是了解印度南部常见的ILD模式,了解被诊断为ILD的患者的人口统计学特征,并证明建立ILD大型前瞻性登记的可行性。方法在喀拉拉邦中部进行为期一年的回顾性观察研究。研究共纳入了100名患者。排除正在接受结核病和恶性肿瘤治疗的患者以及资料不完整的患者。采用Microsoft excel软件和SPSS 19版对数据进行分析。结果在100名参与研究的患者中,有62名女性。结缔组织病相关的ILD是最常见的ILD(36%),其次是特发性肺纤维化(IPF)(34%)。高分辨率计算机断层扫描(HRCT)显示以常规间质性肺炎为主(50%),其次是非特异性间质性肺炎。结论:需要一个广泛的,可能是泛印度和全球的ILD登记需要提倡,这可能代表了一个可能改变游戏规则的步骤,否则,诊断不足的疾病的管理。
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引用次数: 0
Health Technology Assessment: An evidence-informed decision making tool in healthcare 卫生技术评估:医疗保健中的循证决策工具
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2024.11.017
Seema Patrikar
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引用次数: 0
Comparative gross anatomic evaluation of fetal cadavers embalmed with modified saturated salt solution to that of traditional saturated salt solution and formaldehyde 用改性饱和盐溶液与传统饱和盐溶液加甲醛对胎儿尸体进行防腐处理的大体解剖比较
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2024.10.004
Joseph Abraham , Anne D. Souza , Anil K. Bhat , Sneha Guruprasad Kalthur , Akhilesh Kumar Pandey , Lydia S. Quadros , Vrinda Hari Ankolekar , Sushma Prabhath

Background

The study explores the degree of tissue preservation, the flexibility of joints, and anatomical alterations of fetal tissue embalmed with modified saturated-salt solution compared to the traditional saturated-salt solution and formaldehyde solutions.

Methods

Study involved four groups of fetuses. The first group was embalmed with 37% formaldehyde, the second group was embalmed with the modified saturated-salt solution followed by immersion, the third group was embalmed with a modified saturated-salt solution and placed in a refrigerated chamber, and the fourth group was embalmed with a saturated-salt solution and immersed in the same solution. Anatomists compared the gross anatomic appearances across four embalming methods using a checklist.

Results

The immersion group of modified saturated-salt solution had life-like quality, tactile fidelity, and organ consistency, especially in the first six months. After six months, gross-anatomic features of saturated-salt solution, cold storage, and immersion groups of modified saturated-salt solution were not significantly different. General appearance of the immersion group of modified saturated-salt solution remained superior even at the end of one year. The cold storage group of modified saturated-salt solution maintained a more natural smell and softer organs at the end of the first year than other groups. Immersion group of modified saturated-salt solution joint range of movements was greater than that of the other group throughout the preservation time.

Conclusion

Modified saturated-salt solution immersion can be considered an ideal fetal cadaveric preservation method, and even modified saturated salt solution embalming with cold storage is also not inferior, while long-term storage is considered.
本研究探讨了与传统的饱和盐溶液和甲醛溶液相比,改性饱和盐溶液防腐处理胎儿组织的组织保存程度、关节柔韧性和解剖变化。方法对四组胎儿进行研究。第一组用37%甲醛防腐,第二组用改性的饱和盐溶液防腐,然后浸泡,第三组用改性的饱和盐溶液防腐,放入冷冻室,第四组用饱和盐溶液防腐,浸泡在同样的溶液中。解剖学家使用检查表比较了四种防腐方法的大体解剖外观。结果改良饱和盐溶液浸泡组具有较好的逼真度、触觉保真度和器官一致性,尤其是在前6个月。6个月后,改良的饱和盐溶液、冷藏组和浸泡组的大体解剖特征无显著差异。改性饱和盐溶液浸泡组的总体外观即使在一年后仍保持优越。改性饱和盐溶液冷藏组在一年末比其他组保持更自然的气味和更柔软的器官。改良饱和盐溶液浸泡组在整个保存时间内关节活动范围大于另一组。结论改良饱和盐溶液浸泡法是一种理想的胎儿尸体保存方法,即使改良饱和盐溶液冷藏防腐也不逊色,同时考虑长期保存。
{"title":"Comparative gross anatomic evaluation of fetal cadavers embalmed with modified saturated salt solution to that of traditional saturated salt solution and formaldehyde","authors":"Joseph Abraham ,&nbsp;Anne D. Souza ,&nbsp;Anil K. Bhat ,&nbsp;Sneha Guruprasad Kalthur ,&nbsp;Akhilesh Kumar Pandey ,&nbsp;Lydia S. Quadros ,&nbsp;Vrinda Hari Ankolekar ,&nbsp;Sushma Prabhath","doi":"10.1016/j.mjafi.2024.10.004","DOIUrl":"10.1016/j.mjafi.2024.10.004","url":null,"abstract":"<div><h3>Background</h3><div>The study explores the degree of tissue preservation, the flexibility of joints, and anatomical alterations of fetal tissue embalmed with modified saturated-salt solution compared to the traditional saturated-salt solution and formaldehyde solutions.</div></div><div><h3>Methods</h3><div>Study involved four groups of fetuses. The first group was embalmed with 37% formaldehyde, the second group was embalmed with the modified saturated-salt solution followed by immersion, the third group was embalmed with a modified saturated-salt solution and placed in a refrigerated chamber, and the fourth group was embalmed with a saturated-salt solution and immersed in the same solution. Anatomists compared the gross anatomic appearances across four embalming methods using a checklist.</div></div><div><h3>Results</h3><div>The immersion group of modified saturated-salt solution had life-like quality, tactile fidelity, and organ consistency, especially in the first six months. After six months, gross-anatomic features of saturated-salt solution, cold storage, and immersion groups of modified saturated-salt solution were not significantly different. General appearance of the immersion group of modified saturated-salt solution remained superior even at the end of one year. The cold storage group of modified saturated-salt solution maintained a more natural smell and softer organs at the end of the first year than other groups. Immersion group of modified saturated-salt solution joint range of movements was greater than that of the other group throughout the preservation time.</div></div><div><h3>Conclusion</h3><div>Modified saturated-salt solution immersion can be considered an ideal fetal cadaveric preservation method, and even modified saturated salt solution embalming with cold storage is also not inferior, while long-term storage is considered.</div></div>","PeriodicalId":39387,"journal":{"name":"Medical Journal Armed Forces India","volume":"82 1","pages":"Pages 65-73"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146006648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimising medical equipment utilisation and serviceability: A data-driven approach through insights from five healthcare institutions 优化医疗设备的利用率和可维护性:通过五家医疗机构的见解,采用数据驱动的方法
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2024.12.001
Saroj Kumar Patnaik , Patel Kushagra D , Deepti Sahran , Bhaskar J. Kalita , Bharath Kumar , Himanshu Prusty , Prasant Pandit

Background

Underutilisation, inadequate maintenance, and poor communication often lead to inefficiencies in effectively utilising medical equipment. This study uses a data-driven approach to explore the factors influencing equipment utilisation and serviceability in healthcare settings, offering insights to enhance operational efficiency.

Methods

The study was conducted across five specialised healthcare institutions. A comprehensive list of medical equipments was created, and data was collected using a yes/no checklist to assess various factors affecting equipment utilisation and serviceability. The Utilisation Coefficient (UC) was calculated for each piece of equipment. Descriptive statistics, correlation analysis, and decision tree model were used to evaluate the relationships between equipment serviceability and factors such as maintenance practices, procurement policies, and communication.

Results

The study found that the UC was the most significant factor affecting equipment serviceability, contributing over 76% to decision-making in the model. Maintenance practices, such as regular calibration and preventive maintenance, positively correlated with serviceability. In contrast, factors like equipment age and miscommunication between staff and engineers negatively impacted serviceability. With its high accuracy of 98.79%, the decision tree model demonstrated its reliability in predicting serviceability, instilling confidence in the study's methodology.

Conclusion

This study highlights critical factors influencing medical equipment utilisation and serviceability, providing actionable insights for healthcare management. Hospitals can improve operational efficiency, reduce costs, and enhance patient care by focusing on regular maintenance, better communication, and strategic procurement.
背景利用不足、维护不足和沟通不畅往往导致医疗设备的有效利用效率低下。本研究使用数据驱动的方法来探索影响医疗保健环境中设备利用率和可维护性的因素,为提高运营效率提供见解。方法本研究在五家专业医疗机构进行。建立了一份全面的医疗设备清单,并使用是/否清单收集数据,以评估影响设备利用率和可用性的各种因素。计算了每台设备的利用系数(UC)。使用描述性统计、相关性分析和决策树模型来评估设备可服务性与维护实践、采购政策和沟通等因素之间的关系。结果研究发现,UC是影响设备可用性的最重要因素,在模型中对决策的贡献超过76%。维护实践,如定期校准和预防性维护,与可服务性正相关。相比之下,设备年龄和工作人员与工程师之间的沟通不畅等因素对可维护性产生了负面影响。决策树模型的准确率高达98.79%,证明了其在预测服务能力方面的可靠性,为研究方法注入了信心。结论本研究突出了影响医疗设备利用率和可维护性的关键因素,为医疗管理提供了可操作的见解。医院可以通过注重定期维护、更好的沟通和战略性采购来提高运营效率、降低成本并加强患者护理。
{"title":"Optimising medical equipment utilisation and serviceability: A data-driven approach through insights from five healthcare institutions","authors":"Saroj Kumar Patnaik ,&nbsp;Patel Kushagra D ,&nbsp;Deepti Sahran ,&nbsp;Bhaskar J. Kalita ,&nbsp;Bharath Kumar ,&nbsp;Himanshu Prusty ,&nbsp;Prasant Pandit","doi":"10.1016/j.mjafi.2024.12.001","DOIUrl":"10.1016/j.mjafi.2024.12.001","url":null,"abstract":"<div><h3>Background</h3><div>Underutilisation, inadequate maintenance, and poor communication often lead to inefficiencies in effectively utilising medical equipment. This study uses a data-driven approach to explore the factors influencing equipment utilisation and serviceability in healthcare settings, offering insights to enhance operational efficiency.</div></div><div><h3>Methods</h3><div>The study was conducted across five specialised healthcare institutions. A comprehensive list of medical equipments was created, and data was collected using a yes/no checklist to assess various factors affecting equipment utilisation and serviceability. The Utilisation Coefficient (UC) was calculated for each piece of equipment. Descriptive statistics, correlation analysis, and decision tree model were used to evaluate the relationships between equipment serviceability and factors such as maintenance practices, procurement policies, and communication.</div></div><div><h3>Results</h3><div>The study found that the UC was the most significant factor affecting equipment serviceability, contributing over 76% to decision-making in the model. Maintenance practices, such as regular calibration and preventive maintenance, positively correlated with serviceability. In contrast, factors like equipment age and miscommunication between staff and engineers negatively impacted serviceability. With its high accuracy of 98.79%, the decision tree model demonstrated its reliability in predicting serviceability, instilling confidence in the study's methodology.</div></div><div><h3>Conclusion</h3><div>This study highlights critical factors influencing medical equipment utilisation and serviceability, providing actionable insights for healthcare management. Hospitals can improve operational efficiency, reduce costs, and enhance patient care by focusing on regular maintenance, better communication, and strategic procurement.</div></div>","PeriodicalId":39387,"journal":{"name":"Medical Journal Armed Forces India","volume":"82 1","pages":"Pages 55-64"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146006647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precision beyond perfection: Navigating prosthodontics with the finite element method 超越完美的精度:用有限元方法导航修复学
Q2 Medicine Pub Date : 2026-01-01 DOI: 10.1016/j.mjafi.2025.08.008
Parvinder Sharma , Aishwarya Pandey , Ratandeep Singh Ahuja
Finite element method (FEM) is not only a powerful computational technique with multifarious applications in physical and medical sciences but it has also emerged as a critical tool in dentistry, particularly in prosthodontic research and clinical practice, enabling the simulation of complex mechanical behaviors that are inherent in the oro-dental landscape. Through a critical probing and elucidation of pertinent literature, this paper elucidates how FEM functions and upgrades treatment outcomes by predicting stress distribution, assessing material behaviors and enhancing the understanding of biomechanics of the stomatognathic system, prosthesis, frameworks, and implants. With the advent of FEM, it has become easier to comprehend various elements of oral biomechanics. Drawing insights from latest advancements, this review explores various applications of FEM in different subcategories of prosthodontics. This article will be of valuable resource for researchers, clinicians, and educators offering a comprehensive overview of how FEM continues to revolutionize prosthodontics, boosting precision, predictability, and improved treatment outcomes.
有限元方法(FEM)不仅是一种强大的计算技术,在物理和医学科学中有着广泛的应用,而且在牙科,特别是在修复研究和临床实践中也成为一种重要的工具,能够模拟口腔-牙齿环境中固有的复杂力学行为。通过对相关文献的批判性探索和阐明,本文阐明了FEM如何通过预测应力分布、评估材料行为和增强对口颌系统、假体、框架和种植体生物力学的理解来发挥作用并提高治疗效果。随着有限元法的出现,理解口腔生物力学的各种要素变得更加容易。从最新进展的见解,这篇综述探讨了有限元在不同亚类别的修复中的各种应用。本文将为研究人员、临床医生和教育工作者提供有价值的资源,全面概述FEM如何继续革新修复学,提高精度、可预测性和改善治疗结果。
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引用次数: 0
期刊
Medical Journal Armed Forces India
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