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Comparison of Single-Staged and Staged Repair of Proximal Hypospadias among Children Attending a Tertiary Care Center of Northern India: A Retro-prospective Analysis. 印度北部三级医疗中心儿童近端尿道下裂单期和分期修复的比较:回顾性前瞻性分析。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_301_24
Survesh Kumar Gupta, Sudhir Singh, Nitin Pant, Jiledar Rawat, Ashish Wakhlu

Introduction: Hypospadias is a common congenital malformation, with proximal hypospadias occurring in 20% of cases and having a higher incidence of complications than distal hypospadias. Surgical reconstruction varies between single-stage and multi-stage procedures, with no consensus on the optimal approach.

Objectives: This study aimed to compare the outcomes of single-stage and staged repairs for proximal hypospadias in a lower middle-income country, focusing on complications, operative time, patient satisfaction, and overall surgical success.

Materials and methods: An ambispective observational study was conducted at King George's Medical University, Lucknow, from May 2014 to February 2020. Sixty patients with proximal penile hypospadias and chordee were selected (29 from previous medical records and 31 were enrolled prospectively) and divided into two groups of 30 each: single-stage reconstruction and staged repair. Data on demographics, follow-up duration, complications, reoperations, and satisfaction were collected. The Hypospadias Objective Scoring Evaluation (HOSE) system as well as cosmesis was used to assess outcomes at 6-week follow-up.

Results: The mean age was 3.8 years for single-stage and 4.5 years for staged repair, with no significant age difference (P = 0.725). The mean operating time was 90 min for single-stage and 210 min for staged repair. Complication rates, including meatal stenosis and urethral stricture, showed no significant differences. However, graft rejection occurred in four staged repair cases (P = 0.112). The staged repair group had higher reoperation rates (26.67% vs. 13.33%, P = 0.062) and longer hospital stays (26.47 vs. 13.87 days, P = 0.0001). Staged repair achieved better slit-like meatus shapes (83.3% vs. 60%, P = 0.021) and higher satisfaction with residual skin (P = 0.004). HOSE scores showed significant advantages for staged repair in the urinary stream (P = 0.048) and erection outcomes (P = 0.001).

Conclusion: Staged repair showed better cosmetic outcomes and satisfaction in specific areas but required more operative time and hospital stay. Single-stage reconstruction was more cost-effective and had fewer reoperations. The choice of procedure should consider patient-specific factors and resource availability.

简介:尿道下裂是一种常见的先天性畸形,近端尿道下裂发生率为20%,并发症发生率高于远端尿道下裂。手术重建在单阶段和多阶段手术中有所不同,在最佳方法上没有共识。目的:本研究旨在比较中低收入国家近端尿道下裂单期和分期修复的结果,重点关注并发症、手术时间、患者满意度和总体手术成功率。材料和方法:2014年5月至2020年2月在勒克瑙乔治国王医科大学进行了一项双视角观察研究。选择60例阴茎近端尿道下裂和索痛患者(29例来自既往病历,31例来自前瞻性研究),分为两组,每组30例:一期重建和分期修复。收集了人口统计学、随访时间、并发症、再手术和满意度的数据。使用尿道下裂客观评分评估(HOSE)系统和美容来评估6周随访的结果。结果:单期修复的平均年龄为3.8岁,分期修复的平均年龄为4.5岁,年龄差异无统计学意义(P = 0.725)。单段修复的平均作业时间为90分钟,分段修复的平均作业时间为210分钟。并发症发生率,包括金属狭窄和尿道狭窄,没有显着差异。然而,在4例分期修复病例中出现了移植排斥反应(P = 0.112)。分期修复组的再手术率较高(26.67%比13.33%,P = 0.062),住院时间较长(26.47比13.87天,P = 0.0001)。分阶段修复获得了更好的切口状肉道形状(83.3% vs. 60%, P = 0.021)和更高的残留皮肤满意度(P = 0.004)。HOSE评分在尿流的分阶段修复(P = 0.048)和勃起结果(P = 0.001)方面显示出显著优势。结论:分阶段修复在特定部位有较好的美容效果和满意度,但需要较多的手术时间和住院时间。单阶段重建更具成本效益,并且较少再手术。手术的选择应考虑患者的具体因素和资源的可用性。
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引用次数: 0
Determination of Sex from Morphometry of Sternum Using Multidetector Computed Tomography in Central Indian Population. 用多探测器计算机断层扫描从胸骨形态测定法确定印度中部人口的性别。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_150_24
J S Sravan, Arneet Arora, Jayanthi Yadav, Raghvendra Kumar Vidua, B H Gayathri

Background: Autopsies often require determining the sex of unidentified corpses, particularly in cases of decomposition, mutilation, or mass disasters. Sternal bone measurements can be used in establishing the sex of unidentified corpses where the body is in advanced stages of putrefaction or in a mutilated condition.

Aim: This study focuses on the sternum, a robust bone aiding in anthropological sex and age determination, trying to provide precise data for sex identification in decomposed or mutilated bodies, and using digital imaging to eliminate subjectivity in manual autopsy measurements.

Materials and methods: It was a cross-sectional discriminant study done by analyzing 250 adult computed tomography (CT) scans, excluding those under 25 or over 80 and with sternal trauma or deformities. The study visually assessed normal thoracic skeletal anatomy in the CT chest. DICOM viewers obtained three-dimensional sternum images for measurements, and statistical analysis was done with SPSS software.

Results: Mean measurements, except the sternal index, were significantly higher in males. Mesosternal length showed the highest predictive power (females [73.4%] and males [76.2%]). Combining multiple parameters increased accuracy (females [75%], males [82.5%]).

Conclusion: This study thus concludes that sternal bone imaging is a valuable tool for sex determination. The seven parameters analyzed exhibit sexual dimorphism, with mesosternal length being the most accurate. These findings aid future sex determination in mass fatality incidents, explosions, or advanced decomposition. Importantly, this research provides specific data for the Indian population, addressing the need for diverse reference values.

背景:尸检通常需要确定身份不明的尸体的性别,特别是在腐烂、残害或大规模灾难的情况下。胸骨测量可以用于确定身份不明的尸体的性别,如果尸体处于腐烂的晚期或残缺的状态。目的:本研究的重点是胸骨,这是一种有助于人类学性别和年龄测定的坚固骨骼,试图为腐烂或残废尸体的性别鉴定提供精确的数据,并使用数字成像来消除人工尸检测量中的主观性。材料和方法:这是一项横断面判别研究,通过分析250例成人计算机断层扫描(CT),排除25岁以下或80岁以上的胸骨创伤或畸形。该研究在CT胸片上对正常胸骨解剖结构进行了视觉评估。DICOM观察者获得三维胸骨图像进行测量,并使用SPSS软件进行统计分析。结果:除胸骨指数外,男性的平均测量值显著高于男性。胸骨中长度的预测能力最高(女性为73.4%,男性为76.2%)。结合多个参数可提高准确率(女性[75%],男性[82.5%])。结论:本研究认为胸骨成像是一种有价值的性别确定工具。所分析的七个参数表现出性别二态性,其中胸骨长度最为准确。这些发现有助于未来在大规模死亡事件、爆炸或深度分解中确定性别。重要的是,本研究为印度人口提供了具体的数据,解决了不同参考值的需求。
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引用次数: 0
Effect of Withania somnifera on Expression of Selected Genes in Hippocampus of Male Wistar Rats Subjected to Chronic Unpredictable Mild Stress. 苦参对慢性不可预测轻度应激雄性Wistar大鼠海马部分基因表达的影响。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_330_24
Jinay Paresh Mehta, Urmila Anil Kagal, Prakash R Biradar

Background: Depression affects millions globally, with existing treatments having many side effects. Withania somnifera (WS) shows potential as an antidepressant and neuroprotective agent, possibly by influencing brain-derived neurotrophic factor (BDNF)-related pathways.

Aim: This study evaluated the effect of WS alone and in combination with fluoxetine on neuritin, NARP, and BDNF Exon-III gene expression in the hippocampus of male Wistar rats subjected to chronic unpredictable mild stress (CUMS).

Materials and methods: Thirty male Wistar rats were divided into five groups (n = 6 each): normal group (NG), disease control (DC), standard treatment (ST), WS, and combination group of fluoxetine and WS (FW). Depression was induced using CUMS, except in the NG. The sucrose preference test confirmed depression at the end of 3rd week and assessed treatment effects at the end of 7th week. Gene expression in the hippocampus was analyzed through real-time PCR at the end of 7th week.

Results: After 7 weeks, the ST, WS, and FW groups showed a significant increase in sucrose preference compared to the DC group. The ST and FW groups showed significant upregulation of all three genes selected in the present study. Comparison between NG and FW groups showed no significant difference in gene expression.

Conclusion: This study highlights the antidepressant effects of WS by demonstrating its effect on BDNF-associated gene expression. Fluoxetine combined with WS demonstrated additive effects which proves an adjuvant role of WS in the treatment of depression. Further studies involving human subjects are essential to validate the antidepressant effects of WS and its additive effects with fluoxetine.

背景:抑郁症影响着全球数百万人,现有的治疗方法有许多副作用。Withania somnifera (WS)显示出作为抗抑郁药和神经保护剂的潜力,可能通过影响脑源性神经营养因子(BDNF)相关通路。目的:本研究评估WS单独和联合氟西汀对慢性不可预测轻度应激(CUMS)雄性Wistar大鼠海马神经素、NARP和BDNF外显子- iii基因表达的影响。材料与方法:雄性Wistar大鼠30只,分为5组(n = 6):正常组(NG)、疾病控制组(DC)、标准治疗组(ST)、WS和氟西汀联合WS组(FW)。除大鼠外,其余小鼠均用CUMS诱导抑郁。第3周末蔗糖偏好试验证实抑郁,第7周末评估治疗效果。第7周末,采用real-time PCR分析海马基因表达情况。结果:7周后,与DC组相比,ST、WS和FW组对蔗糖的偏好显著增加。ST和FW组在本研究中选择的三个基因均显著上调。NG组与FW组比较,基因表达量无显著差异。结论:本研究通过对bdnf相关基因表达的影响,突出了WS的抗抑郁作用。氟西汀联合WS表现出累加效应,证明WS在抑郁症治疗中的辅助作用。为了验证WS的抗抑郁作用及其与氟西汀的加性作用,有必要开展涉及人类受试者的进一步研究。
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引用次数: 0
A Rare Supraorbital Ridge Mass: The Chondroid Syringoma with Adipocytic Metaplasia. 罕见的眶上脊状肿块:软骨样淋巴管瘤伴脂肪细胞化生。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_363_24
Anil Prasad, Binod Kumar, Sameer Kumar Mehta, Minakshi Mishra

Chondroid syringoma (CS) is a rare benign skin adnexal neoplasm. Its incidence is very low among all primary skin tumors. Diagnosing it clinically can be difficult as it closely resembles other benign salivary or adnexal neoplasms. Until now, only a few cases have been reported from the periorbital region. Clinically, it can be mistaken for epidermal cysts, but ectopic salivary glands are a close differential diagnosis. To diagnose it, a complete removal is usually required, followed by a histopathological examination. We present a unique case of a 45-year-old female patient with a CS in her right supraorbital ridge and review the pertinent literature.

软骨样注射器瘤是一种罕见的良性皮肤附件肿瘤。在所有原发性皮肤肿瘤中发病率很低。临床诊断可能很困难,因为它与其他良性唾液或附件肿瘤非常相似。到目前为止,只有少数病例报道来自眶周区域。临床上,它可能被误认为表皮囊肿,但异位唾液腺是一个密切的鉴别诊断。为了诊断它,通常需要完全切除,然后进行组织病理学检查。我们报告一位45岁女性患者,其右侧眶上脊有CS,并回顾相关文献。
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引用次数: 0
Confusion Surrounding the Mandatory Requirement of Thesis Submission: Review of the Postgraduate Medical Education Regulations of the National Medical Commission. 论文强制性要求的困惑——对《国家卫健委研究生医学教育条例》的反思。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_558_24
Rajiv Mahajan
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引用次数: 0
Kounis Syndrome after Oral Amoxicillin Clavulanate. 口服阿莫西林克拉维酸后的Kounis综合征。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_461_24
Sirsha Chatterjee, Saloni Paranjape, Gurbachan Singh

Kounis or allergic vasospastic angina has been described after exposure to several foods, drugs, and insect bites and stings. Mast cell degranulation during a hypersensitivity allergic or anaphylactic reaction leads to inflammatory mediators causing coronary spasm and thrombosis. A 44-year-old female with no comorbidities presented with sweating, dizziness, rashes, chest tightness, and epigastric discomfort 1 h after oral amoxicillin clavulanate. Electrocardiogram (ECG) showed ST segment changes along with elevated troponin I. Suspecting Kounis syndrome, she was administered pheniramine maleate, hydrocortisone, and oral antiplatelets along with intravenous fluids. Chest tightness was better, and ECG improved in 60 min. Since systemic adrenaline was to be avoided for fear of coronary vasospasm, for airway edema, nebulized adrenaline was administered. She recovered completely and was discharged after 48 h. This case highlights coronary vasospasm during an ongoing allergic reaction and its management with antihistamines, steroids, and antiplatelet drugs. Nebulized adrenaline was safely given with ECG monitoring for airway edema.

在暴露于几种食物、药物和昆虫叮咬和蜇伤后,会出现Kounis或过敏性血管痉挛心绞痛。肥大细胞脱颗粒在过敏或过敏反应导致炎症介质引起冠状动脉痉挛和血栓形成。44岁女性,无合并症,口服克拉维酸阿莫西林1小时后出现出汗、头晕、皮疹、胸闷、上腹不适。心电图显示ST段改变,肌钙蛋白i升高。怀疑为库尼斯综合征,给予马来酸苯那敏、氢化可的松、口服抗血小板药及静脉输液。胸闷较好,60min心电图改善。由于担心冠状血管痉挛,避免全身肾上腺素,对于气道水肿,给予肾上腺素雾化。患者完全恢复,48小时后出院。该病例突出了持续过敏反应期间的冠状血管痉挛,并使用抗组胺药、类固醇和抗血小板药物进行治疗。雾化肾上腺素是安全的,同时心电图监测气道水肿。
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引用次数: 0
Gene Expression of Cyp7a1 in Liver Tissue of Type 2 Diabetic Rats Treated with Fenugreek and/or Metformin. 胡芦巴和/或二甲双胍对2型糖尿病大鼠肝组织中Cyp7a1基因表达的影响
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_165_24
Saloni Garg, Urmila Kagal

Background and aim: In the liver, glucose appears to affect gene transcription. High blood sugar boosts bile acid (BA) synthesis and mRNA expression of the cholesterol-7α-hydroxylase (Cyp7a1) gene, a key BA regulator. Fenugreek, also known as Trigonella foenum-graecum (TFG), is one of the few recognized powerful herbs to have anti-diabetic properties. However, whether it has an interaction when given along with metformin (MET) is unclear.

Methodology: In the present study, we evaluated the effect of TFG alone and in combination with MET on random blood sugar (RBS) and Cyp7a1 gene expression in high fat diet and Streptozotocin (STZ; 30 mg/kg, i.p.)-induced diabetic male Wistar rats.

Results: The MET, TFG, and combination of MET + TFG (CBN) significantly lowered the RBS levels (P < 0.0001, P < 0.009, and P < 0.002) of diabetic rats. All groups upregulated Cyp7a1 expression. MET upregulated it by 4.8-fold, whereas the TFG and CBN groups upregulated it by a substantial amount of 50.2-fold and 50.4-fold, respectively.

Conclusion: This study has found that the administration of MET and TFG in combination may have an undesirable pharmacological interaction on blood glucose levels and BA synthesis. This information becomes critical for people who wish to take MET with TFG for ostensible better glucose management. It is advisable to avoid combining them. Moreover, the current investigation has proven Cyp7a1 to be an essential therapeutic target for both MET and TFG due to its involvement in both, BA synthesis and anti-diabetic effect.

背景与目的:在肝脏中,葡萄糖似乎影响基因转录。高血糖促进胆汁酸(BA)的合成和胆固醇-7α-羟化酶(Cyp7a1)基因mRNA的表达,这是一个关键的BA调节因子。胡芦巴,也被称为Trigonella foenum-graecum (TFG),是少数公认的具有抗糖尿病特性的强大草药之一。然而,当与二甲双胍(MET)一起使用时,是否有相互作用尚不清楚。方法:在本研究中,我们评估了TFG单独和联合MET对高脂饮食和链脲佐菌素(STZ;30 mg/kg, ig)诱导的糖尿病雄性Wistar大鼠。结果:MET、TFG及MET + TFG联合使用(CBN)可显著降低糖尿病大鼠的RBS水平(P < 0.0001, P < 0.009, P < 0.002)。各组均上调Cyp7a1表达。MET上调了4.8倍,而TFG和CBN组分别上调了50.2倍和50.4倍。结论:本研究发现MET和TFG联合使用可能对血糖水平和BA合成产生不良的药理相互作用。这一信息对于那些希望在TFG的同时服用MET以获得更好的血糖控制的人来说至关重要。建议避免将它们结合使用。此外,目前的研究已经证明Cyp7a1是MET和TFG的重要治疗靶点,因为它参与BA合成和抗糖尿病作用。
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引用次数: 0
Psychological Well-being and Quality of Life for Patients with Stable Spinal Cord Injury: A Cross-sectional Study. 稳定性脊髓损伤患者的心理健康和生活质量:一项横断面研究。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_428_24
Vidur Makkar, Aditya Pandurangi, Vidushi Makkar, Ume Hani, Mahesh Mahadevaiah, Swapna Pandurangi

Background: Spinal cord injury (SCI) results in severe physical impairments and significant lifestyle disruptions, including paralysis, increased dependence on caregivers, and a tendency toward social isolation. These challenges deeply affect the psychological health and overall quality of life (QOL) of those impacted, especially in younger patients. Investigating the psychological and QOL outcomes in individuals with stable SCIs is crucial for developing tailored rehabilitation strategies.

Aim: The study aimed to investigate the psychological health and QOL in patients with stable SCIs.

Materials and methods: This observational cross-sectional study involved patients with stable traumatic SCIs recruited through WhatsApp support groups from two major centers in India. Eligible participants were adults who were at least 1-year postinjury. Those with severe head injuries or nontraumatic spinal injuries were excluded. Participants provided sociodemographic information and injury history and completed assessments evaluating psychological health and QOL. Data were analyzed using IBM SPSS software, and statistical significance was determined through Chi-square tests.

Results: Psychological distress was identified in 26.2% of the participants. Younger participants exhibited significantly poorer QOL in the psychological domain (P = 0.02). Employment status showed a significant association with the physical domain (P = 0.037) and overall QOL scores (P = 0.046). Socioeconomic status was significantly correlated with both the psychological (P = 0.004) and social domains (P = 0.009).

Conclusions: The study underscores the considerable impact of SCI on psychological health and overall QOL, with younger individuals disproportionately affected. Healthcare providers should prioritize the integration of psychological support and counseling in SCI rehabilitation programs.

背景:脊髓损伤(SCI)导致严重的身体损伤和明显的生活方式中断,包括瘫痪,对照顾者的依赖增加,以及社会孤立的倾向。这些挑战深刻地影响了受影响者的心理健康和整体生活质量(QOL),尤其是年轻患者。研究稳定SCIs患者的心理和生活质量结果对于制定量身定制的康复策略至关重要。目的:探讨稳定型SCIs患者的心理健康状况和生活质量。材料和方法:本观察性横断面研究涉及通过WhatsApp支持小组从印度两个主要中心招募的稳定创伤性SCIs患者。符合条件的参与者是受伤后至少1年的成年人。排除了严重头部损伤或非创伤性脊柱损伤的患者。参与者提供了社会人口学信息和伤害史,并完成了心理健康和生活质量评估。数据采用IBM SPSS软件进行分析,通过卡方检验确定统计学显著性。结果:26.2%的参与者存在心理困扰。年轻的被试在心理领域表现出较差的生活质量(P = 0.02)。就业状况与物理领域(P = 0.037)和总体生活质量得分(P = 0.046)呈显著相关。社会经济地位与心理(P = 0.004)和社会领域(P = 0.009)均显著相关。结论:本研究强调脊髓损伤对心理健康和总体生活质量有相当大的影响,尤其是年轻人受到的影响更大。在脊髓损伤康复项目中,医疗服务提供者应优先考虑心理支持和咨询的整合。
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引用次数: 0
Exploring the Profiles of ROS1 Tyrosine Kinase: A Structural Analysis of G2032R and D2033N Mutations. ROS1酪氨酸激酶基因的研究:G2032R和D2033N突变的结构分析
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_43_24
Syed Ikramul Hasan

Background: ROS1, a proto-oncogene, drives cancer through chromosomal fusions. The G2032R and D2033N mutations, common in ROS1-rearranged non-small cell lung cancer, hinder crizotinib treatment. We investigate these mutations' impact on ROS1 structure through molecular dynamics (MD) simulations, revealing destabilization. Our findings shed light on how these mutations contribute to cancer development.

Materials and methods: The crystal structure of human ROS1 (PDB ID: 7z5x) served as the template for homology modeling and further mutation insertion of G2032R and D2033N substitutions introduced using Swiss-PdbViewer. The MD simulations were conducted on the wild-type (WT) and mutant ROS1 kinase domains to explore the structural changes and interactions.

Results: The initial model of the human ROS1 crystal structure was constructed, incorporating missing loop residues and then utilized for the MD simulation studies. The examination of conformational changes in WT, G2032R, and D2033N mutant ROS1 proteins involved observing alterations in the C-alpha protein. We observed that the mutations resulted in deviations in the MD trajectory over the 500 ns period. Consequently, the MD simulations unveiled significant conformational changes induced by the G2032R and D2033N mutations, affecting protein stability and dynamics, particularly in regions such as the ATP binding and active sites.

Conclusion: Our study constructed an initial model of the human ROS1 and used it for MD simulation studies to examine the conformational changes in ROS1 mutants. Notably, our observations revealed that the mutations caused deviations in the MD trajectory. The G2032R and D2033N mutations significantly alter ROS1 structure, affecting its stability and dynamics, offering key insights into their role in cancer disease development.

背景:ROS1是一种原癌基因,通过染色体融合驱动癌症。在ros1重排的非小细胞肺癌中常见的G2032R和D2033N突变阻碍了克唑替尼的治疗。我们通过分子动力学(MD)模拟研究了这些突变对ROS1结构的影响,揭示了不稳定性。我们的发现揭示了这些突变是如何导致癌症发展的。材料与方法:以人类ROS1 (PDB ID: 7z5x)的晶体结构为模板,利用Swiss-PdbViewer对引入的G2032R和D2033N替换进行同源性建模和进一步的突变插入。对野生型(WT)和突变型ROS1激酶结构域进行了MD模拟,以探索结构变化和相互作用。结果:构建了包含缺失环残基的人ROS1晶体结构的初始模型,并将其用于MD模拟研究。检测WT、G2032R和D2033N突变体ROS1蛋白的构象变化包括观察c - α蛋白的变化。我们观察到,突变导致了500 ns周期内MD轨迹的偏差。因此,MD模拟揭示了G2032R和D2033N突变引起的显著构象变化,影响了蛋白质的稳定性和动力学,特别是在ATP结合和活性位点等区域。结论:本研究构建了人类ROS1基因的初始模型,并将其用于MD模拟研究,以检测ROS1基因突变体的构象变化。值得注意的是,我们的观察显示突变导致MD轨迹的偏差。G2032R和D2033N突变显著改变ROS1结构,影响其稳定性和动力学,为了解其在癌症疾病发展中的作用提供了关键见解。
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引用次数: 0
ARL15 Gene Variant rs255758 Provides Susceptibility to Rheumatoid Arthritis in Northwest Indian Population. ARL15基因变异rs255758提供了西北印度人群对类风湿关节炎的易感性
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 Epub Date: 2025-01-09 DOI: 10.4103/ijabmr.ijabmr_156_24
Inder Mohan Singh Sandhu, Hemender Singh, Simranpreet Kaur, Ekta Rai, Anupama Mahajan, Gurinder Mohan, Swarkar Sharma

Introduction: Rheumatoid arthritis (RA) is a systemic, chronic, and inflammatory autoimmune disease with a strong genetic component. ARL15 gene variant rs255758 has been reported as a candidate for RA susceptibility. A replication study was performed on this variant by taking 188 RA cases and 310 healthy non-RA controls from northwest India in a case-control association study design.

Materials and methods: DNA isolated from collected blood samples was analyzed by genotyping of the variant on real-time polymerase chain reaction using TaqMan Allele Discrimination Assay and statistically analyzed.

Results: The variant was found to follow Hardy-Weinberg Equilibrium (P = 0.079) in the control group. The variant was significantly associated with RA susceptibility in the present studied population cohort (P = 0.024) with C as a risk allele and increased risk in the recessive model (CC vs. CA + AA; P = 0.004).

Conclusion: The present study corroborates the earlier findings on the role of ARL15 gene variant rs255758 in RA and further contributes to its genetic etiology.

类风湿关节炎(RA)是一种系统性、慢性、炎症性自身免疫性疾病,具有很强的遗传成分。ARL15基因变异rs255758已被报道为RA易感性的候选基因。采用病例-对照关联研究设计,从印度西北部选取188例RA病例和310例健康非RA对照,对该变异进行了重复研究。材料与方法:采集血样分离DNA,采用TaqMan等位基因鉴别法实时聚合酶链反应对变异进行基因分型,并进行统计学分析。结果:对照组变异符合Hardy-Weinberg平衡(P = 0.079)。在本研究的人群队列中,该变异与RA易感性显著相关(P = 0.024), C为风险等位基因,在隐性模型中风险增加(CC vs. CA + AA;P = 0.004)。结论:本研究证实了ARL15基因变异rs255758在RA中的作用,并进一步为RA的遗传病因提供了依据。
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International Journal of Applied and Basic Medical Research
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