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Unveiling Rare Breast Neoplasms: Diagnostic Challenges and Insights.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.19
Rasheeda Mohamedali, Nilay Nishith, Rahul Raj, Nishtha Ahuja, Aishwarya Sharma, Puneet Kaur Somal, Ravikiran N Pawar, Sankalp Sancheti

Breast neoplasm encompasses a diversified range of different diseases characterized by unique biological and pathological features, clinical presentation, response to treatments, clinical behavior, and outcome. The histological variability has profound prognostic implications, thus playing a pivotal role in diagnosing breast neoplasm. Special histologies can occur rarely, and most information on outcomes and treatments is mainly derived from small series and case reports. Thus, reporting such unusual occurrences is of utmost importance. This is a retrospective study of four years in which 11 cases of breast neoplasm diagnosed on histopathology were assessed. The clinical details were acquired from an electronic search. The hematoxylin and eosin and immunohistochemistry slides were retrieved from the archives to review the histopathological features. The patient's age ranged from 32 to 72 years (median: 51 years).  Eleven unusual cases of breast neoplasms were diagnosed and categorized according to the latest World Health Organisation (WHO) classification. These cases include rare and salivary gland type tumors (2 cases), neuroendocrine neoplasms (1 case), hamartomas of the breast (2 cases), fibroblastic and myofibroblastic tumors of the breast (1 case), peripheral nerve sheath tumor (1 case) and hematolymphoid tumors of the breast (4 cases). The management of unusual breast cancer histotypes represents a real challenge in daily clinical practice. Our data suggest that these variants are distinct clinicopathological entities with unique hormonal receptor statuses. The occurrence of such entities is rare, and they demonstrate different clinical behaviors and responses to treatment, suggesting that a few genomic-specific events might also drive them. Therefore, it is important to indulge in future research on such rare breast neoplasms.

{"title":"Unveiling Rare Breast Neoplasms: Diagnostic Challenges and Insights.","authors":"Rasheeda Mohamedali, Nilay Nishith, Rahul Raj, Nishtha Ahuja, Aishwarya Sharma, Puneet Kaur Somal, Ravikiran N Pawar, Sankalp Sancheti","doi":"10.15190/d.2024.19","DOIUrl":"https://doi.org/10.15190/d.2024.19","url":null,"abstract":"<p><p>Breast neoplasm encompasses a diversified range of different diseases characterized by unique biological and pathological features, clinical presentation, response to treatments, clinical behavior, and outcome. The histological variability has profound prognostic implications, thus playing a pivotal role in diagnosing breast neoplasm. Special histologies can occur rarely, and most information on outcomes and treatments is mainly derived from small series and case reports. Thus, reporting such unusual occurrences is of utmost importance. This is a retrospective study of four years in which 11 cases of breast neoplasm diagnosed on histopathology were assessed. The clinical details were acquired from an electronic search. The hematoxylin and eosin and immunohistochemistry slides were retrieved from the archives to review the histopathological features. The patient's age ranged from 32 to 72 years (median: 51 years).  Eleven unusual cases of breast neoplasms were diagnosed and categorized according to the latest World Health Organisation (WHO) classification. These cases include rare and salivary gland type tumors (2 cases), neuroendocrine neoplasms (1 case), hamartomas of the breast (2 cases), fibroblastic and myofibroblastic tumors of the breast (1 case), peripheral nerve sheath tumor (1 case) and hematolymphoid tumors of the breast (4 cases). The management of unusual breast cancer histotypes represents a real challenge in daily clinical practice. Our data suggest that these variants are distinct clinicopathological entities with unique hormonal receptor statuses. The occurrence of such entities is rare, and they demonstrate different clinical behaviors and responses to treatment, suggesting that a few genomic-specific events might also drive them. Therefore, it is important to indulge in future research on such rare breast neoplasms.</p>","PeriodicalId":72829,"journal":{"name":"Discoveries (Craiova, Romania)","volume":"12 4","pages":"e200"},"PeriodicalIF":0.0,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652335","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
Genetic and Pathological Insights into the rs7216389 Polymorphism in Gasdermin B and Its Association with Childhood Asthma.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.15
Qudsia Umaira Khan, Afreen Banu, Ismail Mazhar, Aimen Binte Asif, Aan Waseem

This review provides an overview of genetic and pathological mechanisms associated with childhood asthma, focusing on the Gasdermin B (GSDMB) gene variant rs7216389. Accordingly, asthma is outlined as the most common chronic disease in children, with increased incidence in the worldwide community, critically important complications, and mortality related to severe manifestations, primarily exacerbations. The review provides a clinical definition of asthma exacerbation, briefly goes into the cost aspects, and explains the features of pediatric asthma compared to adult-onset asthma. It recognizes the influence of genetic factors such as single nucleotide polymorphisms at the 17q21 locus concerning asthma and its severe attacks while stressing the need to understand those genetic factors that could be potential targets for treatment. The review also stresses the difficulties in implementing the discovery in the clinic, and the potential of additional research dedicated to unveiling the relationship between genetic risk factors, environmental exposures, and immune reactions in the pathological process of childhood asthma. To this end, the current work should be viewed as an attempt to provide a broad overview of asthma pathogenesis and contribute to the development of novel hypotheses and therapeutic approaches in future studies.

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引用次数: 0
Public Health Threats Posed by Biofilms and Innovative Strategies for their Control.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.16
Syed Hamza Abbas, Shahzar Khan, Majid Shah, Jawad Aslam, Humaira Nawaz, Nadia Ilyas, Asim Gamaryani, Saba Qadir Afridi, Izaz Khan, Brekhna Shah, Kashmala Shah, Abdul Rashid, Dilawaiz Khan, Samiullah Khan

Biofilms are communities of microorganisms that adhere to surfaces within a self-produced protective matrix. The structural complexity of biofilms and their inherent resistance to conventional antimicrobial treatments make them a significant public health challenge. These microbial communities, embedded within a self-produced extracellular matrix, are associated with numerous persistent infections, especially those occurring in healthcare settings where they colonize medical devices and chronic wounds. The effects of biofilms go beyond healthcare environments and persist in water treatment facilities, food processing plants, and nature, in which biofilms aid in pollution and transmission of disease.  This review article discusses multifaceted public health complications related to biofilms and the search for existing control strategies, the process of biofilm formation, mechanisms of persistence, and limitations of traditional antimicrobial approaches. Additionally, this article explores new innovative solutions, such as bacteriophage therapy, matrix-degrading enzymes, and quorum sensing inhibitors. The potential of a combination of antimicrobial agents with biofilm-disrupting compounds for the improvement of efficacy is also paid special attention.  This review seeks to contribute to these ongoing efforts by presenting an overview of biofilm biology and assessing the efficacy of a variety of possible control strategies. Subsequently, the insights derived from this study may be used to inform future research directions and aid in the development of more effective interventions for biofilm-associated infections and contamination in various settings.

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引用次数: 0
Diphenoxylate Toxicity in a Young Child with Acute Gastroenteritis: A Clinical Case Report.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.20
Muhammad Romail Manan, Iqra Nawaz, Ahmad Zulaid, Muhammad Usama Afzal, Muhammad Atif, Muhammad Huzaifa, Anosha Fayyaz

Lomotil (diphenoxylate-atropine) toxicity in the pediatric population remains a significant concern particularly in low and lower middle-income countries. This may result from accidental ingestion or inappropriate therapeutic administration which can lead to life threatening complications including respiratory and central nervous system depression.  A 2-year-old child presented to the pediatric emergency room in an altered state of consciousness. Clinical examination revealed dry mucous membranes, and a prolonged capillary refill time with weak radial pulses. Keeping in view the one-day history of 10-12 episodes of acute onset loose, watery stools, patient was initially treated as a case of hypovolemic shock. With rehydration therapy, his perfusion improved. However, the Glasgow Coma Scale score remained 8, as was observed on initial presentation. Upon further probing, it was revealed by the parents that the child had been given Lomotil by a local general practitioner for unresolved watery diarrhea. Pinpoint pupils and slow shallow vesicular breathing confirmed this diagnosis of Lomotil overdose. Administration of 0.1mg/kg/dose Naloxone repeated once, completely reversed the toxic effects. The child was able to make a full recovery and was discharged the following day.  This case highlights the importance of recognizing and managing diphenoxylate toxicity in children, emphasizing the need for increased clinical awareness. A lack of consensus regarding the toxic dose of this drug reveals a gap warranting further research and establishment of standardized guidelines to ensure accurate dosing and improved patient safety.

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引用次数: 0
A Patient-Centered Perspectives and Future Directions in AI-powered Teledentistry.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.18
Richa Kaushik, Ravindra Rapaka

This scoping review investigates the integration of AI into teledentistry with a focus on patient-centered perspectives and future directions. Teledentistry has progressed rapidly in the COVID-19 pandemic period, providing remote dental care by means of digital communication technologies.The introduction of AI has made diagnosis more precise, treatment planning more personalized, and processes more efficient and have also made dental services better accessible to the underserved. AI algorithms help in early diagnosis of dental issues, provides customized treatment plans, and improve patient outcomes. Despite the advantages, still many challenges exist. These are ethical concerns, data privacy issues, and regulatory hurdles that prevent widespread adoption. Use of AI in dental settings results in patients having mixed sentiments surrounding trust and data security arising out of fear of having   reduced   personal interactions with providers. Additionally, AI driven teledentistry is not validated in large scale clinical setting and cost effectiveness assessment which undermines scalability. This review identifies gaps in existing research and provides guidance for how patient-centered applications further facilitate increased transparency, AI education, and cross-disciplinary collaboration among dentists, computer scientists, ethicists, and policymakers. The future research should include clinical validation, economics, and ethical standards to make AI teledentistry use responsible and inclusive. This scoping review equips clinicians and researchers with a roadmap for responsible, patient-centered implementation of AI-enabled teledentistry, offering practical strategies and insights to enhance the quality and accessibility of remote dental care.

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引用次数: 0
Primary Ovarian Angiosarcoma: Diagnostic Challenges and Conundrums.
Pub Date : 2024-12-31 eCollection Date: 2024-10-01 DOI: 10.15190/d.2024.17
Sujata Agrawal, Zachariah Chowdhury, Roma Jethani

Angiosarcoma is an extremely uncommon mesenchymal neoplasm overall and moreso in female genital organs such as the ovary. Diagnosing primary ovarian angiosarcoma remains challenging on clinical grounds due to the absence of specific clinical symptoms as well as on histopathological analysis especially in poorly differentiated subtypes due to non-specific and overlapping morphologic features. Misdiagnosis in such scenarios can be devastating as this tumor is clinically very aggressive. We describe a case of primary ovarian angiosarcoma in a 33-year-old multiparous female with bilateral ovarian masses and metastasis at diagnosis. Histopathologic appraisal revealed a poorly differentiated malignant tumor with varied differential diagnoses. The saviour in such a scenario was the immunohistochemistry findings, underlining the incredible utility of this technique in the precise diagnosis and evasion of misdiagnosis. This case accentuates the paramount importance of precise diagnostic modalities in shaping clinical practice and enriching the scientific understanding of rare and aggressive neoplasms. Against this backdrop, the potential pitfalls and pearls while dealing with this entity have been elucidated, along with a review of the recent literature.

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引用次数: 0
A Rare Case of Primary Chondrosarcoma of the Breast: A Case Report and Comprehensive Literature Review. 罕见的乳腺原发性软骨肉瘤1例报告及文献复习。
Pub Date : 2024-09-30 eCollection Date: 2024-07-01 DOI: 10.15190/d.2024.12
Sujata Agrawal, Zachariah Chowdhury, Paramita Paul, Tanima Mandal

Breast sarcomas are a diverse group of malignant neoplasms originating from the mammary stroma. They are uncommon tumors, often occurring as a component of other tumors. Among malignant breast mesenchymal tumors, pure sarcomas lacking epithelial components are even rarer, comprising only 0.5% of breast tumors. The most common types include angiosarcomas, liposarcomas, and osteosarcomas. Pure, primary, and de novo chondrosarcomas are exceedingly rare within breast sarcomas, with very few cases reported. Distinguishing them from metaplastic carcinoma and phyllodes tumors with chondromatous areas entails extensive sampling to exclude proliferating ductal elements. Herein, we present a case of primary chondrosarcoma of the breast in a 72-year-old Indian woman. Initial core biopsy suggested a primary chondroid neoplasm or a heterologous component of a phyllodes tumor. The patient underwent modified radical mastectomy, and histological examination confirmed chondrosarcoma, grade 1, after thorough sampling.Clinical Relevance: This case emphasizes the necessity of incorporating rare sarcomatous breast tumors into the differential diagnosis for breast masses, especially those with chondroid differentiation. The report also reinforces the pivotal role of accurate histopathological evaluation in guiding appropriate surgical and adjunctive treatment, which can significantly impact prognosis in such rare malignancies.

乳腺肉瘤是一类起源于乳腺间质的恶性肿瘤。它们是罕见的肿瘤,通常作为其他肿瘤的组成部分出现。在乳腺恶性间充质肿瘤中,缺乏上皮成分的纯肉瘤更为罕见,仅占乳腺肿瘤的0.5%。最常见的类型包括血管肉瘤、脂肪肉瘤和骨肉瘤。单纯的、原发的和新生的软骨肉瘤在乳腺肉瘤中极为罕见,报道的病例很少。将其与化生癌和带软骨瘤区域的叶状肿瘤区分需要广泛的取样以排除增殖的导管元素。在这里,我们提出一个病例原发性软骨肉瘤的乳房在一个72岁的印度妇女。最初的核心活检提示原发性软骨样肿瘤或叶状肿瘤的异源成分。患者接受改良乳房根治术,组织学检查证实软骨肉瘤,1级,彻底取样后。临床意义:本病例强调了将罕见的乳腺肉瘤纳入乳腺肿块鉴别诊断的必要性,特别是那些有软骨样分化的肿块。该报告还强调了准确的组织病理学评估在指导适当的手术和辅助治疗方面的关键作用,这对这种罕见的恶性肿瘤的预后有重要影响。
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引用次数: 0
Herpes Simplex Virus Encephalitis in a Post-operative Case of Follicular Thyroid Carcinoma. 滤泡性甲状腺癌术后单纯疱疹病毒性脑炎1例。
Pub Date : 2024-09-30 eCollection Date: 2024-07-01 DOI: 10.15190/d.2024.13
Anuragani Verma, Shruti Radera, Amita Jain, Nandini Mishra, Sheetal Agarwal, Om Prakash

Herpes simplex virus (HSV) encephalitis is a life-threatening consequence of HSV infection of the central nervous system. Early antiviral therapy is most effective, necessitating prompt diagnosis. We report a case of atypical HSV encephalitis. The appearance of a strong headache followed by impairment of consciousness during the postoperative course in a 70-year-old patient who underwent surgical removal of a follicular thyroid carcinoma. Diffusion-weighted MRI detected brain abnormalities on the second day after the onset of symptoms, and polymerase chain reaction identification of HSV-1 DNA confirmed the diagnosis. A positive prognosis was achieved due to the decision to start specific, high-dose antiviral therapy based on clinical suspicion. A firm diagnosis was established by Tzanck smear and polymerase chain reaction.

单纯疱疹病毒(HSV)脑炎是HSV感染中枢神经系统的一种危及生命的后果。早期抗病毒治疗最有效,需要及时诊断。我们报告一例非典型HSV脑炎。一例70岁的甲状腺滤泡癌手术切除患者术后出现强烈头痛并伴有意识障碍。症状出现后第二天,弥散加权MRI检测到脑部异常,HSV-1 DNA聚合酶链反应鉴定证实了诊断。由于基于临床怀疑决定开始特异性高剂量抗病毒治疗,预后良好。经Tzanck涂片和聚合酶链反应确诊。
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引用次数: 0
Pregnancy challenges and outcomes among female physicians. 女医生的妊娠挑战和结局。
Pub Date : 2024-09-30 eCollection Date: 2024-07-01 DOI: 10.15190/d.2024.11
George Henning, Arjola Agolli, Susan Henning, Samantha Murphy

Female physicians constitute an increasing proportion of the total physician workforce. Lengthy training often causes delays in family planning. When they feel ready and plan to have children, they might face demanding work hours, limited options for parental leave and child support, and potential stigmatization by peers and superiors. The impact of these factors on female physicians' fertility, pregnancy complications, professional growth, and perceptions of a career in medicine as a barrier to motherhood is not well-established. The goal of this study was to identify the main challenges and risk factors for pregnancy complications among U.S. female physicians.  Age, stress, adverse working conditions, occupational hazards, and insomnia were some of the main factors that can affect female physicians' fertility. A higher rate of infertility and older age at delivery were observed among female physicians working in surgical specialties. Being a physician is often associated with higher rates of infertility and pregnancy complications than the general population.   Although female physicians are increasing in number, they continue to encounter challenges in family planning and personal and professional life balance.  More research is needed to assess policy gaps, stigma, stereotypes, and risk factors, especially among different specialties. It becomes essential to develop effective strategies to adequately address these concerns and to offer equal and accessible reproductive care for female physicians.

女医生在整个医生队伍中所占的比例越来越大。长时间的培训常常导致计划生育的延误。当她们准备好并计划要孩子时,她们可能会面临繁重的工作时间、有限的育儿假和子女抚养费选择,以及同事和上级可能给她们带来的耻辱。这些因素对女医生的生育能力、妊娠并发症、专业成长以及将医学职业视为生育障碍的看法的影响尚未得到证实。本研究的目的是确定美国女医生妊娠并发症的主要挑战和危险因素。年龄、压力、不良工作条件、职业危害和失眠是影响女医师生育能力的主要因素。在外科专业工作的女医生中,不孕症和分娩年龄较高。医生的不孕症和妊娠并发症的发生率通常高于一般人群。虽然女医生的数量正在增加,但她们在计划生育和个人与职业生活的平衡方面仍然面临挑战。需要更多的研究来评估政策差距、污名、刻板印象和风险因素,特别是在不同专业之间。必须制定有效的战略,充分解决这些问题,并为女医生提供平等和可获得的生殖保健。
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引用次数: 0
Unrecognized Inter-Coronary Communication in a Case of Hypertrophic Cardiomyopathy. 一例肥厚型心肌病患者未被发现的冠状动脉间交通。
Pub Date : 2024-09-30 eCollection Date: 2024-07-01 DOI: 10.15190/d.2024.10
Khalid W Al-Kaissi, Arpita Meher, Ayeza Majid, Yamen Hussein

Inter-coronary communication is a rare congenital anomaly, defined as a connection between two patent coronary arteries, and was first described in 1972. We report the case of a 61-year-old Emirati female who presented to the emergency department with chest pain and palpitations, along with a strong family history of cardiac disease. She was initially diagnosed with indolent hypertrophic obstructive cardiomyopathy and accordingly managed; however, the patient remained symptomatic. Further investigations revealed inter-coronary communication between her left circumflex (LCX) and left anterior descending (LAD) coronary arteries. This case highlights the importance of recognizing inter-coronary communications for better outcomes in patients with HOCM, as well as their potential clinical significance with the need for further studies to be done to pinpoint the true significance.

冠状动脉间通讯是一种罕见的先天性异常,定义为两条未闭冠状动脉之间的连接,于1972年首次被描述。我们报告的情况下,61岁的阿联酋女性谁提出了胸痛和心悸的急诊科,并与心脏疾病的强烈家族史。她最初被诊断为惰性肥厚性梗阻性心肌病并进行相应的治疗;然而,患者仍有症状。进一步的检查显示她的左旋冠状动脉(LCX)和左前降支冠状动脉(LAD)之间有冠状动脉间的通信。本病例强调了认识冠状动脉间通信对于HOCM患者更好预后的重要性,以及其潜在的临床意义,需要进一步研究以确定其真正意义。
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引用次数: 0
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Discoveries (Craiova, Romania)
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