Annals of case reports最新文献

Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response. 伴有种系BLM和体细胞ATM突变的转移性胰腺腺癌：一个病例报告和DNA损伤反应的回顾。

Annals of case reports Pub Date : 2026-01-01 Epub Date: 2026-02-06 DOI: 10.29011/2574-7754.102521

Bhargavram Channagiri Srinivas, Sai Sri Hari Paruchuri, Wei Zhang, Prasad Dandawate, Subhrajit Saha, Ravi Paluri, Ashish Manne, Anup Kasi

{"title":"Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.","authors":"Bhargavram Channagiri Srinivas, Sai Sri Hari Paruchuri, Wei Zhang, Prasad Dandawate, Subhrajit Saha, Ravi Paluri, Ashish Manne, Anup Kasi","doi":"10.29011/2574-7754.102521","DOIUrl":"10.29011/2574-7754.102521","url":null,"abstract":"Introduction: Pancreatic adenocarcinoma (PDAC) is an aggressive malignancy with a poor prognosis. While germline mutations in BRCA1/2 are well-established risk factors, mutations in the BLM gene (associated with Bloom Syndrome) are rare in this context.Case presentation: We present a 73-year-old female with a recent history of small cell lung cancer (SCLC) who presented with metastatic pancreatic adenocarcinoma. Genetic profiling revealed a pathogenic germline BLM mutation and a somatic ATM mutation. The patient was treated with an oxaliplatin-based regimen (mFOLFOX6), modified due to comorbidities, achieving disease stabilization.Discussion: This case highlights the complexity of managing metachronous malignancies and the utility of comprehensive genomic profiling. The presence of pathogenic variants in DNA damage response (DDR) genes (BLM and ATM) suggests a defect in homologous recombination, providing a rationale for platinum-based therapy. We discuss the implications of BLM mutations on therapeutic selection, potential immune checkpoint interactions, and the role of synthetic lethality in management.","PeriodicalId":72213,"journal":{"name":"Annals of case reports","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12974267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147438078","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

First Applications of Purified and Sterile Human Amniotic Fluid for the Successful Healing of Abrasion and Acne Lesions of the Face. 纯化无菌人羊水首次应用于面部磨损和痤疮病变的成功愈合。

Annals of case reports Pub Date : 2025-01-01 Epub Date: 2025-06-09 DOI: 10.29011/2574-7754.102316

Pascal J Goldschmidt-Clermont, Robert Montenegro, Kate Rojas, Alexander J P Goldschmidt, Ian A White

{"title":"First Applications of Purified and Sterile Human Amniotic Fluid for the Successful Healing of Abrasion and Acne Lesions of the Face.","authors":"Pascal J Goldschmidt-Clermont, Robert Montenegro, Kate Rojas, Alexander J P Goldschmidt, Ian A White","doi":"10.29011/2574-7754.102316","DOIUrl":"10.29011/2574-7754.102316","url":null,"abstract":"The face and hands are among the most exposed areas of the human body. Maintaining healthy facial skin is particularly challenging due to its continuous exposure to environmental stressors. Factors such as ultraviolet (UV) radiation, air pollution, and adverse weather conditions, including humidity, wind, cold, and heat can all negatively impact the skin. UV radiation contributes to skin aging by inducing dermal thinning and hyperpigmentation, while pollution can lead to pore obstruction and the formation of comedones. Hormonal fluctuations, particularly in estrogen, testosterone, and cortisol play a significant role in modulating sebum production, comedogenesis, and cutaneous inflammation, all of which can contribute to the development of acne. Consequently, physiological stages such as puberty, menstruation, pregnancy, and menopause can markedly influence skin tone, texture, and overall clarity. Genetic predisposition plays a significant role in the susceptibility to dermatological conditions such as comedonal acne, inflammatory acne, rosacea, and hyperpigmentation. While topical and systemic acne therapies can be effective, their efficacy is often contingent upon appropriate selection based on individual skin type and acne phenotype. In some cases, treatments may be ineffective or associated with adverse effects, including irritation, scarring, or post-inflammatory hyperpigmentation. Additionally, mechanical trauma or incidental abrasions to the facial skin pose further challenges to maintaining cutaneous integrity and appearance. Here we provide evidence that a new therapeutic countermeasure, ViX001, can heal recalcitrant acne and sizeable abrasions.","PeriodicalId":72213,"journal":{"name":"Annals of case reports","volume":"10 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12290875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735811","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 Danger of Diagnostic Overshadowing in Primary Care: A Case Report of Delayed Diagnosis of Inflammatory Bowel Disease 初级医疗中诊断被忽视的危险：延误诊断炎症性肠病的病例报告

Annals of case reports Pub Date : 2024-07-26 DOI: 10.29011/2574-7754.101904

引用次数: 0

Retrospective Review of Patients Presenting for Daytime, Evening, Weekday, and Weekend Breast Cancer Screening and Diagnostic Imaging Appointments 对白天、晚上、工作日和周末乳腺癌筛查和诊断成像预约患者的回顾性审查

Annals of case reports Pub Date : 2024-07-24 DOI: 10.29011/2574-7754.101900

引用次数: 0

Outcome of Patients with Delayed Brain Metastases Following Initial Ipilimumab plus Nivolumab Treatment of Disseminated Melanoma 伊匹单抗联合尼妥珠单抗治疗播散性黑色素瘤的初始疗程后出现迟发性脑转移患者的疗效

Annals of case reports Pub Date : 2024-07-15 DOI: 10.29011/2574-7754.101891

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Intubation of a Patient in Prone Position with the Videolaryngoscope in a Street Trauma 在街头创伤中使用视频喉镜为俯卧位患者插管

Annals of case reports Pub Date : 2024-07-15 DOI: 10.29011/2574-7754.101893

Daniele Speciale, Alberto Pagnamenta, Filippo Tami, Paolo Maino, Sabrina Bettoni

引用次数: 0

Case Report: Pulmonary Aplasia in Pregnant Women 病例报告：孕妇肺部再生障碍

Annals of case reports Pub Date : 2024-07-11 DOI: 10.29011/2574-7754.101882

引用次数: 0

Acute War Stress in Ukrainian Refugees: Neurobiological and Psychological Impact 乌克兰难民的急性战争应激反应：神经生物学和心理学影响

Annals of case reports Pub Date : 2024-07-11 DOI: 10.29011/2574-7754.101881

Ivan Rektor, M. Fňašková, Sofia Berezka, M. Gajdoš, Pavel Říha, Tetyana Evmenova, Marek Preiss

{"title":"Acute War Stress in Ukrainian Refugees: Neurobiological and Psychological Impact","authors":"Ivan Rektor, M. Fňašková, Sofia Berezka, M. Gajdoš, Pavel Říha, Tetyana Evmenova, Marek Preiss","doi":"10.29011/2574-7754.101881","DOIUrl":"https://doi.org/10.29011/2574-7754.101881","url":null,"abstract":"Purpose: We raised the question whether the neurobiological and psychological impact of war stress could be observed in Ukrainian refugees during an ongoing war. Ukrainian refugee women (UG, n=43) from the war-torn regions were investigated and were compared to Czech women control group without stress (CG, n=21). Men were not allowed to leave Ukraine due to the war conditions. Method: Psychological testing was performed using tests available in Ukrainian language: Posttraumatic stress disorder Check List; Zung Self-Rating Depression Scale; The State-Trait Anxiety Inventory; Test of Intellectual Potential and Digit Span - WAIS III. Magnetic Resonance Imaging included voxel-based morphometry, functional MR, seed-based connectivity. Finding: UG scored significantly higher than CG in stress (p<0.001), depression (p=0.019) and anxiety (p=0.001) and lower than CG in an abstract reasoning task (p<0.030). The groups did not differ significantly in memory and intellectual tasks. MRI showed an enlargement of the posterior and central parts of the thalamus that were related to the frontal orbital gyrus and insula indicating a connectivity with limbic system regions. Conclusion: The data show the impact of acute and ongoing war-related stress on psychological features as well as on the thalamus and connectivity of stress-related cortical areas. Acute and ongoing war stress had a significant neurobiological impact on refugees from war-torn Ukraine.","PeriodicalId":72213,"journal":{"name":"Annals of case reports","volume":"138 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141655888","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}

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An Emerging Problem: Multidisciplinary Treatment of Liver Transplant-Associated Biliary Complica- tions in Patients with Roux-En-Y Gastric Bypass 新出现的问题：Roux-En-Y 胃旁路术患者肝移植相关胆道并发症的多学科治疗

Annals of case reports Pub Date : 2024-07-08 DOI: 10.29011/2574-7754.101875

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Effectiveness of Monthly Low Dose Emicizumab, and Sequential Monthly Low Dose Emicizumab and Factor VIII Concentrate Prophylaxis among Patients with Hemophilia A: A Case Series Report of 3-Year Follow-Up 每月一次小剂量埃米珠单抗以及每月一次小剂量埃米珠单抗和因子 VIII 浓缩物预防性治疗对 A 型血友病患者的疗效：3 年随访病例系列报告

Annals of case reports Pub Date : 2024-07-08 DOI: 10.29011/2574-7754.101872

A. Chuansumrit, S. Jaovisidha, N. Sirachainan, Tachit Jiravichitchai, P. Kadegasem, Ketsuda Kempka, Monratta Pitakcharoen, Wannaphorn Rotchanpanya

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