Medical Reports最新文献_第10页

Homozygous DEAF1 mutation with developmental delay, microcephaly, and optic atrophy – A case report 纯合子DEAF1突变伴发育迟缓、小头畸形和视神经萎缩1例报告

Medical Reports

Pub Date : 2025-08-28 DOI: 10.1016/j.hmedic.2025.100349

Aisha Shahid , Umer Shahid , Reet Ramani , Zubaid Moazzam Sheikh , Ubaid Shahid , Saba Safdar

Background

Significant developmental difficulties are frequently caused by neurodevelopmental diseases, which are frequently brought on by environmental causes and genetic mutations. The DEAF1 gene is associated with serious neurological disorders and is essential for brain development. The purpose of this study is to investigate the potential effects of a homozygous mutation in the DEAF1 gene on developmental delays, specifically in consanguineous families, using the example of a 1.5-year-old boy.

Methods and results

A harmful mutation in the DEAF1 gene (c.1051C>T p.(Arg351Ter)) was discovered by genetic research. The child had generalized epileptic activity, optic atrophy, microcephaly, and global developmental delay. There was no discernible developmental improvement even after getting antiepileptic medication, occupational therapy, and physical therapy. Similar developmental difficulties were also shown by a first cousin, suggesting a close genetic connection. Genetic testing and thorough neurological examinations were among the evaluations.

Conclusions

The difficulties in treating neurodevelopmental abnormalities linked to the DEAF1 gene are highlighted by this example. The particular mutation emphasizes how important it is for developmental outcomes. The results highlight the value of preventive testing and genetic counseling in consanguineous relationships. Because of the severity of the mutation, the prognosis is still unknown even after intensive multidisciplinary care. All things considered, this instance highlights the need for more research in this field and offers insightful information on how DEAF1 mutations affect neurodevelopmental diseases.

背景：神经发育疾病通常是由环境因素和基因突变引起的重大发育困难。DEAF1基因与严重的神经系统疾病有关，对大脑发育至关重要。本研究的目的是研究DEAF1基因纯合突变对发育迟缓的潜在影响，特别是在近亲家庭中，以一名1.5岁男孩为例。方法与结果通过遗传学研究发现了DEAF1基因（c.1051 > p.(Arg351Ter)）的一个有害突变。儿童有广泛性癫痫活动，视神经萎缩，小头畸形和整体发育迟缓。即使在接受抗癫痫药物、职业治疗和物理治疗后，也没有明显的发育改善。类似的发育困难也表现在他的一位表兄身上，这表明他们有密切的遗传联系。基因测试和彻底的神经学检查都在评估之列。结论本例突出了治疗与DEAF1基因相关的神经发育异常的困难。这种特殊的突变强调了它对发育结果的重要性。这一结果突出了在近亲关系中预防性检测和遗传咨询的价值。由于突变的严重性，即使经过密集的多学科治疗，预后仍然未知。考虑到所有的事情，这个例子强调了在这个领域需要更多的研究，并提供了关于DEAF1突变如何影响神经发育疾病的有见地的信息。

{"title":"Homozygous DEAF1 mutation with developmental delay, microcephaly, and optic atrophy – A case report","authors":"Aisha Shahid , Umer Shahid , Reet Ramani , Zubaid Moazzam Sheikh , Ubaid Shahid , Saba Safdar","doi":"10.1016/j.hmedic.2025.100349","DOIUrl":"10.1016/j.hmedic.2025.100349","url":null,"abstract":"<div><h3>Background</h3><div>Significant developmental difficulties are frequently caused by neurodevelopmental diseases, which are frequently brought on by environmental causes and genetic mutations. The DEAF1 gene is associated with serious neurological disorders and is essential for brain development. The purpose of this study is to investigate the potential effects of a homozygous mutation in the DEAF1 gene on developmental delays, specifically in consanguineous families, using the example of a 1.5-year-old boy.</div></div><div><h3>Methods and results</h3><div>A harmful mutation in the DEAF1 gene (c.1051C>T p.(Arg351Ter)) was discovered by genetic research. The child had generalized epileptic activity, optic atrophy, microcephaly, and global developmental delay. There was no discernible developmental improvement even after getting antiepileptic medication, occupational therapy, and physical therapy. Similar developmental difficulties were also shown by a first cousin, suggesting a close genetic connection. Genetic testing and thorough neurological examinations were among the evaluations.</div></div><div><h3>Conclusions</h3><div>The difficulties in treating neurodevelopmental abnormalities linked to the DEAF1 gene are highlighted by this example. The particular mutation emphasizes how important it is for developmental outcomes. The results highlight the value of preventive testing and genetic counseling in consanguineous relationships. Because of the severity of the mutation, the prognosis is still unknown even after intensive multidisciplinary care. All things considered, this instance highlights the need for more research in this field and offers insightful information on how DEAF1 mutations affect neurodevelopmental diseases.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100349"},"PeriodicalIF":0.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144913139","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

Acute liver injury following a single dose of celecoxib: A rare case of rapid-onset hepatotoxicity 单剂量塞来昔布引起的急性肝损伤：一例罕见的快速肝毒性病例

Medical Reports

Pub Date : 2025-08-28 DOI: 10.1016/j.hmedic.2025.100353

Maria Emilia Adenike V. Adedoja , Lovell B. Gatchalian

Celecoxib is a widely prescribed drug for symptomatic pain control. Data regarding its potential to cause deleterious hepatotoxicity is limited. This case report presents a 42-year old man who developed jaundice within 24 h after intake of one tablet of celecoxib (200 mg) for a tooth extraction. He did not have signs of hepatic encephalopathy, fever or rash. There was no previous drug allergy, herbal medicine or alcohol intake. Laboratory workup showed ALT 699, AST 631 U/L, Total bilirubin 5.17 mg/dL, alkaline phosphatase was elevated at 195 U/L and INR 1.2 with an R factor of 9 indicating a hepatocellular pattern of injury. Serologic tests for Hepatitis A, B & C were non-reactive. Antinuclear Antibody (ANA), anti-smooth muscle antibody (anti-SMA), serum immunoglobulin G, anti-mitochondrial antibody (AMA), and perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) were all negative. Imaging tests of the liver such as triphasic CT scan and Magnetic Resonance Cholangiopancreatography (MRCP) showed no evidence of biliary obstruction and dilatation. His cholestasis and course of liver disease were prolonged, and ultimately he underwent liver biopsy which showed portal and lobular inflammation and hepatocanalicular cholestasis favoring drug-induced liver injury. Celecoxib was withdrawn, ursodeoxycholic acid 300 mg/tab twice times daily and cetirizine 10 mg/tab OD were started to address his persistent pruritus. His liver biochemical and function tests gradually normalized with symptom resolution after 4 months. Conventional non-steroidal anti-inflammatory drugs like celecoxib may still be associated with significant hepatotoxicity. Swift recognition and cessation of the drug's use are crucial. This case highlights the potential for severe hepatotoxicity even with minimal exposure to celecoxib, underscoring the importance of recognizing this rare but serious adverse reaction.

塞来昔布是一种广泛用于控制症状性疼痛的处方药。有关其可能引起有害肝毒性的数据有限。本病例报告介绍了一名42岁男性，在服用塞来昔布一片（200 mg）拔牙后24 小时内出现黄疸。他没有肝性脑病、发热或皮疹的症状。之前没有药物过敏，草药或酒精摄入。实验室检查显示ALT 699， AST 631 U/L，总胆红素5.17 mg/dL，碱性磷酸酶升高至195 U/L， INR为1.2，R因子为9，表明肝细胞损伤模式。A、B、C型肝炎血清学检测无反应。抗核抗体（ANA）、抗平滑肌抗体（anti-SMA）、血清免疫球蛋白G、抗线粒体抗体（AMA）、核周抗中性粒细胞胞浆抗体（p-ANCA）均为阴性。肝脏影像学检查如三相CT扫描和磁共振胆管胰胆管造影（MRCP）未显示胆道阻塞和扩张的证据。胆汁淤积和肝病病程延长，最终行肝活检，显示门静脉和小叶炎症及肝管胆汁淤积倾向于药物性肝损伤。停用塞来昔布，开始使用熊去氧胆酸300 mg/片，每日2次，西替利嗪10 mg/片OD治疗顽固性瘙痒。4个月后肝脏生化及功能指标逐渐恢复正常，症状逐渐缓解。传统的非甾体抗炎药，如塞来昔布，可能仍然与显著的肝毒性有关。迅速识别和停止使用药物是至关重要的。该病例强调了即使少量接触塞来昔布也可能发生严重肝毒性，强调了认识到这种罕见但严重的不良反应的重要性。

{"title":"Acute liver injury following a single dose of celecoxib: A rare case of rapid-onset hepatotoxicity","authors":"Maria Emilia Adenike V. Adedoja , Lovell B. Gatchalian","doi":"10.1016/j.hmedic.2025.100353","DOIUrl":"10.1016/j.hmedic.2025.100353","url":null,"abstract":"<div><div>Celecoxib is a widely prescribed drug for symptomatic pain control. Data regarding its potential to cause deleterious hepatotoxicity is limited. This case report presents a 42-year old man who developed jaundice within 24 h after intake of one tablet of celecoxib (200 mg) for a tooth extraction. He did not have signs of hepatic encephalopathy, fever or rash. There was no previous drug allergy, herbal medicine or alcohol intake. Laboratory workup showed ALT 699, AST 631 U/L, Total bilirubin 5.17 mg/dL, alkaline phosphatase was elevated at 195 U/L and INR 1.2 with an R factor of 9 indicating a hepatocellular pattern of injury. Serologic tests for Hepatitis A, B & C were non-reactive. Antinuclear Antibody (ANA), anti-smooth muscle antibody (anti-SMA), serum immunoglobulin G, anti-mitochondrial antibody (AMA), and perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) were all negative. Imaging tests of the liver such as triphasic CT scan and Magnetic Resonance Cholangiopancreatography (MRCP) showed no evidence of biliary obstruction and dilatation. His cholestasis and course of liver disease were prolonged, and ultimately he underwent liver biopsy which showed portal and lobular inflammation and hepatocanalicular cholestasis favoring drug-induced liver injury. Celecoxib was withdrawn, ursodeoxycholic acid 300 mg/tab twice times daily and cetirizine 10 mg/tab OD were started to address his persistent pruritus. His liver biochemical and function tests gradually normalized with symptom resolution after 4 months. Conventional non-steroidal anti-inflammatory drugs like celecoxib may still be associated with significant hepatotoxicity. Swift recognition and cessation of the drug's use are crucial. This case highlights the potential for severe hepatotoxicity even with minimal exposure to celecoxib, underscoring the importance of recognizing this rare but serious adverse reaction.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100353"},"PeriodicalIF":0.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988503","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

Empyema caused by Parvimonas micra: A case report 微小细小单胞菌致脓胸1例

Medical Reports

Pub Date : 2025-08-26 DOI: 10.1016/j.hmedic.2025.100354

Yali Qiu , Xiwei Zhang , Ying Feng , Lifei Wang

Parvimonas Micra, a Gram-positive anaerobic coccus, has been implicated in a range of infectious conditions affecting immunocompromised individuals, particularly those with diabetes or malignancies. It is considered a key pathogen associated with chronic apical periodontitis and has been identified in several non-oral infections, including purulent spondylitis, infective endocarditis, and discitis. However, there is a paucity of comprehensive and systematic research on the pathogenesis of Parvimonas micra-induced empyema. This case report aims to elucidate the mechanisms underlying empyema development in patients with type 2 diabetes mellitus, to enhance clinical diagnostic accuracy and therapeutic strategies for such cases.

微小单胞菌是一种革兰氏阳性厌氧球菌，与一系列影响免疫功能低下个体的传染病有关，特别是糖尿病或恶性肿瘤患者。它被认为是与慢性根尖牙周炎相关的关键病原体，并已在几种非口腔感染中被发现，包括化脓性脊柱炎、感染性心内膜炎和椎间盘炎。然而，对微细小单胞菌引起的脓胸的发病机制缺乏全面、系统的研究。本病例报告旨在阐明2型糖尿病患者发生脓胸的机制，以提高此类病例的临床诊断准确性和治疗策略。

引用次数: 0

Persistent crisis of fetal alcohol spectrum disorder in South Africa: Time for decisive action 南非胎儿酒精谱系障碍的持续危机：采取果断行动的时候了

Medical Reports

Pub Date : 2025-08-26 DOI: 10.1016/j.hmedic.2025.100352

Babatope O. Adebiyi , Ferdinand C. Mukumbang

Fetal Alcohol Spectrum Disorder (FASD) represents a critical public health challenge in South Africa (SA), where the prevalence is among the highest worldwide. This commentary highlights the urgent need for coordinated, multifaceted approaches to address FASD, with prevalence rates as high as 310 per 1000 individuals, particularly in rural communities. Factors contributing to this high prevalence include historical practices like the "dop system," pervasive poverty, limited healthcare access, and social norms around alcohol use. The consequences of FASD are profound, leading to lifelong impairments and significant economic impacts. Alcohol-related harms cost SA around 65–104 billion Rand annually. Despite the magnitude of the issue, SA lacks a comprehensive national strategy, resulting in fragmented services and care gaps. To mitigate this crisis, a combination of prevention, early diagnosis, and community-based interventions is essential. Suggested strategies include public awareness campaigns, integration of FASD prevention into primary healthcare, enhanced diagnostic services, and community empowerment initiatives. A national response involving government agencies, healthcare providers, educational institutions, community organizations, and private sector stakeholders is imperative. With sustained commitment, South Africa can substantially reduce the burden of FASD, ensuring a healthier future for its communities.

胎儿酒精谱系障碍（FASD）是南非（SA）面临的一项重大公共卫生挑战，南非是全球患病率最高的国家之一。本评论强调，迫切需要采取协调的、多方面的方法来应对FASD，其患病率高达每1000人中有310人，特别是在农村社区。造成这种高流行率的因素包括“兴奋剂制度”等历史习俗、普遍贫困、有限的医疗保健机会以及有关酒精使用的社会规范。FASD的后果是深远的，导致终身损伤和重大的经济影响。与酒精相关的危害每年给南非造成650亿至1040亿兰特的损失。尽管这一问题非常严重，但南非缺乏全面的国家战略，导致服务分散和护理差距。为缓解这一危机，预防、早期诊断和基于社区的干预措施相结合至关重要。建议的战略包括提高公众认识运动、将FASD预防纳入初级保健、加强诊断服务和社区赋权举措。涉及政府机构、医疗保健提供者、教育机构、社区组织和私营部门利益攸关方的国家应对措施势在必行。只要作出持续的承诺，南非就能大大减轻传染病和疾病管理局的负担，确保其社区有一个更健康的未来。

{"title":"Persistent crisis of fetal alcohol spectrum disorder in South Africa: Time for decisive action","authors":"Babatope O. Adebiyi , Ferdinand C. Mukumbang","doi":"10.1016/j.hmedic.2025.100352","DOIUrl":"10.1016/j.hmedic.2025.100352","url":null,"abstract":"<div><div>Fetal Alcohol Spectrum Disorder (FASD) represents a critical public health challenge in South Africa (SA), where the prevalence is among the highest worldwide. This commentary highlights the urgent need for coordinated, multifaceted approaches to address FASD, with prevalence rates as high as 310 per 1000 individuals, particularly in rural communities. Factors contributing to this high prevalence include historical practices like the \"dop system,\" pervasive poverty, limited healthcare access, and social norms around alcohol use. The consequences of FASD are profound, leading to lifelong impairments and significant economic impacts. Alcohol-related harms cost SA around 65–104 billion Rand annually. Despite the magnitude of the issue, SA lacks a comprehensive national strategy, resulting in fragmented services and care gaps. To mitigate this crisis, a combination of prevention, early diagnosis, and community-based interventions is essential. Suggested strategies include public awareness campaigns, integration of FASD prevention into primary healthcare, enhanced diagnostic services, and community empowerment initiatives. A national response involving government agencies, healthcare providers, educational institutions, community organizations, and private sector stakeholders is imperative. With sustained commitment, South Africa can substantially reduce the burden of FASD, ensuring a healthier future for its communities.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100352"},"PeriodicalIF":0.0,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144916311","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

Ictal whistling as the first clinical sign of amygdala onset seizure on sEEG, a review of the literature and case report 耳鸣作为sEEG中杏仁核发作的首个临床症状，文献回顾及病例报告

Medical Reports

Pub Date : 2025-08-25 DOI: 10.1016/j.hmedic.2025.100348

Ahmad Yusuf Solaiman , Mohammad Alkhoujah , Mo'men K. Kahhaleh

Ictal whistling (IW) is a rare type of mimic musical automatisms, which is usually reported in temporal lobe epilepsy. Accurate localization is crucial for the diagnosis and appropriate epilepsy treatment planning. In this report, we are describing a case of precise localization of ictal whistling seizures using intracranial stereo-EEG (sEEG). Clinically, symptoms were consistent with loss of awareness and mimic automatisms: whistling and blowing air, time-locked to an ictal pattern over the deep contacts of the left amygdala spreading promptly to the entire mesial hippocampal area. Although there was a structural abnormality (bilateral occipital horn heterotopia), it was not involved in the ictal pattern during the sEEG, which was crucial in determining our surgical options. We hypothesize that ictal whistling may be considered as an oroalimentary automatism, given that such symptoms are typically associated with seizure activity originating in the amygdala and peri-amygdaloid region.

口哨声（IW）是一种罕见的模仿音乐自动性，通常在颞叶癫痫中报道。准确定位是诊断和适当的癫痫治疗计划的关键。在本报告中，我们描述了一个使用颅内立体脑电图（sEEG）精确定位突发性口哨发作的病例。临床症状与意识丧失和模仿自动机一致：吹口哨和吹气，时间锁定在左杏仁核深部触点上，迅速蔓延到整个海马内侧区。虽然存在结构异常（双侧枕角异位），但在sEEG期间没有涉及到临界模式，这是决定我们手术选择的关键。考虑到这些症状通常与起源于杏仁核和杏仁核周围区域的癫痫发作活动相关，我们假设临界口哨声可能被认为是一种口腔消化自动性疾病。

引用次数: 0

Triple attack: Cytomegalovirus, mycobacterium avium complex and aspergillus co-infection presenting as a cavitary pulmonary lesion in a patient with human immunodeficiency virus 三重攻击：巨细胞病毒、鸟分枝杆菌复合体和曲霉菌共同感染，在人类免疫缺陷病毒患者中表现为肺空洞性病变

Medical Reports

Pub Date : 2025-08-24 DOI: 10.1016/j.hmedic.2025.100350

Ryan Njeim , Michel Al-Achkar , Wei Xue , Allison Glaser

Background

Opportunistic infections are a significant concern in immunocompromised patients, particularly those with human immunodeficiency virus (HIV). The diagnosis of these infections can be challenging due to overlapping clinical and radiological findings.

Case description

We report a rare case of triple co-infection by cytomegalovirus (CMV), Mycobacterium chimaera, and Aspergillus fumigatus causing pneumonia with a cavitary lesion in a 43-year-old HIV-infected female, non-adherent to antiretroviral therapy. Chest imaging revealed a left upper lobe cavitary lesion with ground-glass opacities. Serum CMV PCR was strongly positive. Bronchoscopic biopsy showed Aspergillus and focal CMV pneumonia, while post-discharge culture grew Aspergillus and Mycobacterium chimaera. The patient was treated with intravenous ganciclovir and voriconazole, then discharged on oral medications with plans for MAC treatment.

Conclusion

This case represents the first reported triple co-infection of its kind, particularly noteworthy given the patient's CD4 count above 50 cells/mm³ . It underscores the importance of comprehensive diagnostic workup and highlights the challenges in managing multiple opportunistic infections in severely immunocompromised individuals.

背景：机会性感染是免疫功能低下患者，特别是人类免疫缺陷病毒（HIV）患者的一个重要问题。由于临床和放射学发现重叠，这些感染的诊断可能具有挑战性。病例描述：我们报告一例罕见的巨细胞病毒（CMV）、嵌合分枝杆菌和烟曲霉三重合并感染的病例，该病例发生在一名43岁的hiv感染女性中，抗逆转录病毒治疗无效。胸部影像学显示左侧上肺叶空洞病变伴磨玻璃样混浊。血清CMV PCR阳性。支气管镜活检显示曲霉菌和局灶性巨细胞病毒肺炎，出院后培养显示曲霉菌和分枝杆菌嵌合体。患者静脉给予更昔洛韦和伏立康唑治疗，出院后口服药物治疗，并计划进行MAC治疗。结论该病例是首次报道的三重合并感染，特别是考虑到患者CD4细胞计数高于50细胞/mm³ 。它强调了全面诊断检查的重要性，并强调了在严重免疫功能低下个体中管理多重机会性感染的挑战。

{"title":"Triple attack: Cytomegalovirus, mycobacterium avium complex and aspergillus co-infection presenting as a cavitary pulmonary lesion in a patient with human immunodeficiency virus","authors":"Ryan Njeim , Michel Al-Achkar , Wei Xue , Allison Glaser","doi":"10.1016/j.hmedic.2025.100350","DOIUrl":"10.1016/j.hmedic.2025.100350","url":null,"abstract":"<div><h3>Background</h3><div>Opportunistic infections are a significant concern in immunocompromised patients, particularly those with human immunodeficiency virus (HIV). The diagnosis of these infections can be challenging due to overlapping clinical and radiological findings.</div></div><div><h3>Case description</h3><div>We report a rare case of triple co-infection by cytomegalovirus (CMV), Mycobacterium chimaera, and Aspergillus fumigatus causing pneumonia with a cavitary lesion in a 43-year-old HIV-infected female, non-adherent to antiretroviral therapy. Chest imaging revealed a left upper lobe cavitary lesion with ground-glass opacities. Serum CMV PCR was strongly positive. Bronchoscopic biopsy showed Aspergillus and focal CMV pneumonia, while post-discharge culture grew Aspergillus and Mycobacterium chimaera. The patient was treated with intravenous ganciclovir and voriconazole, then discharged on oral medications with plans for MAC treatment.</div></div><div><h3>Conclusion</h3><div>This case represents the first reported triple co-infection of its kind, particularly noteworthy given the patient's CD4 count above 50 cells/mm³ . It underscores the importance of comprehensive diagnostic workup and highlights the challenges in managing multiple opportunistic infections in severely immunocompromised individuals.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100350"},"PeriodicalIF":0.0,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144896264","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

Kawasaki disease as a rare cause of suppurative sterile lymphadenitis in pediatrics 川崎病是小儿化脓性无菌性淋巴结炎的罕见病因

Medical Reports

Pub Date : 2025-08-22 DOI: 10.1016/j.hmedic.2025.100351

Sarah Magdy Abdelmohsen , Walid Hussein , Marwa T. Hussien

Background

Pediatric surgeons frequently encounter pediatric patients with various differential diagnoses for neck lymph node swelling. Kawasaki disease is a rare cause of neck lymph node swelling in children.

Case reports

A nine-year-old boy presented with a right-sided neck lymph node mass and fever for two days. Inflammatory markers were elevated. An abscess or liquefactive necrosis developed within the enlarged lymph nodes. An intraoperative swab tested negative for pathogens, and the blood culture was unremarkable. The child was diagnosed with Kawasaki disease.

Discussion

The number of children diagnosed with Kawasaki disease has increased over the past two years, particularly during the COVID-19 pandemic. In this case, the sterile abscess resulted from the vascular necrosis of significantly enlarged lymph nodes and vasculitis affecting the supplying blood vessels.

Conclusion

Kawasaki disease is a rare cause of suppurative sterile neck lymphadenitis in children. Early diagnosis and timely treatment with intravenous immunoglobulin (IVIG) significantly improve the prognosis of Kawasaki disease.

背景：儿科外科医生经常遇到小儿患者的各种鉴别诊断为颈部淋巴结肿大。川崎病是儿童颈部淋巴结肿大的罕见病因。病例报告：一名九岁男童因右侧颈部淋巴结肿物及发烧2天。炎症标志物升高。肿大的淋巴结内出现脓肿或液化性坏死。术中拭子的病原体检测呈阴性，血培养结果也很正常。这名儿童被诊断患有川崎病。在过去两年中，特别是在COVID-19大流行期间，被诊断患有川崎病的儿童人数有所增加。在这个病例中，无菌脓肿是由明显扩大的淋巴结的血管坏死和影响供血血管的血管炎引起的。结论川崎病是儿童化脓性无菌性颈部淋巴结炎的罕见病因。早期诊断和及时治疗静脉注射免疫球蛋白（IVIG）可显著改善川崎病的预后。

{"title":"Kawasaki disease as a rare cause of suppurative sterile lymphadenitis in pediatrics","authors":"Sarah Magdy Abdelmohsen , Walid Hussein , Marwa T. Hussien","doi":"10.1016/j.hmedic.2025.100351","DOIUrl":"10.1016/j.hmedic.2025.100351","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric surgeons frequently encounter pediatric patients with various differential diagnoses for neck lymph node swelling. Kawasaki disease is a rare cause of neck lymph node swelling in children.</div></div><div><h3>Case reports</h3><div>A nine-year-old boy presented with a right-sided neck lymph node mass and fever for two days. Inflammatory markers were elevated. An abscess or liquefactive necrosis developed within the enlarged lymph nodes. An intraoperative swab tested negative for pathogens, and the blood culture was unremarkable. The child was diagnosed with Kawasaki disease.</div></div><div><h3>Discussion</h3><div>The number of children diagnosed with Kawasaki disease has increased over the past two years, particularly during the COVID-19 pandemic. In this case, the sterile abscess resulted from the vascular necrosis of significantly enlarged lymph nodes and vasculitis affecting the supplying blood vessels.</div></div><div><h3>Conclusion</h3><div>Kawasaki disease is a rare cause of suppurative sterile neck lymphadenitis in children. Early diagnosis and timely treatment with intravenous immunoglobulin (IVIG) significantly improve the prognosis of Kawasaki disease.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100351"},"PeriodicalIF":0.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026608","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

A comprehensive analysis of aberrant immunophenotypes in T-ALL T-ALL异常免疫表型的综合分析

Medical Reports

Pub Date : 2025-08-21 DOI: 10.1016/j.hmedic.2025.100347

Chintamani Pathak, Neha Aggarwal, Smriti Sharan, Siddhartha Sankar Samanta

T cell Acute Lymphoblastic Leukemia (T-ALL) is an aggressive hematologic malignancy characterized by the clonal proliferation of immature T lymphocytes. It accounts for approximately 15 % of childhood ALL cases. Aberrant expression of immunophenotype markers is not uncommon in Acute leukemia, especially T-ALL. Aberrant phenotype in T ALL previously are CD10, CD19,CD79a, CD13, CD33, CD117, CD15 and CD11b. In this case series, we describe clinicopathological profile of 7 T ALL cases with aberrant immunophenotype. All cases diagnosed as T ALL on flow cytometry over a period of 2.5 years were included in this study with emphasis on cases expressing aberrant immunophenotype.Among 29 diagnosed cases T ALL, 8 cases exhibited expression of aberrant markers CD10 (6 cases, paediatric), CD33 (1 case, paediatric),CD117 (1 case, paediatric)co expression of CD10 and CD33 (1 case, paediatric), co expression of CD10, CD79a and CD13 (1 case, adult). The detection of aberrant immunophenotypic markers in T-ALL poses considerable diagnostic challenges. The study underscores the importance of comprehensive diagnostic workup including flowcytometry in managing atypical presentations of T-ALL. It highlights the diagnostic complexity of common & uncommon aberrant immunophenotypes in T-ALL, emphasizing the need for detailed molecular and immunophenotypic profiling to guide treatment planning.In our study, CD10 was found to be the most common aberrant immunophenotype as reported previously. The only adult patient with aberrant immunophenotype had coexpression of 3 CD markers and 1 paediatric case coexpressed 2 CD markers which is rare. None of our cases showed aberrant expression of CD19, CD15 and CD11b.

T细胞急性淋巴细胞白血病（T- all）是一种侵袭性血液系统恶性肿瘤，其特征是未成熟T淋巴细胞的克隆性增殖。它约占儿童ALL病例的15% %。免疫表型标志物的异常表达在急性白血病中并不罕见，尤其是T-ALL。以前，T ALL的异常表型是CD10、CD19、CD79a、CD13、CD33、CD117、CD15和CD11b。在这个病例系列中，我们描述了7例具有异常免疫表型的 T ALL病例的临床病理特征。所有在2.5年内流式细胞术诊断为T淋巴细胞白血病的病例被纳入本研究，重点是表达异常免疫表型的病例。29例确诊的T ALL患者中，CD10（6例，儿童）、CD33（1例，儿童）、CD117（1例，儿童）、CD10和CD33（1例，儿童）共同表达、CD10、CD79a和CD13（1例，成人）共同表达异常标志物8例。异常免疫表型标记在T-ALL的检测提出了相当大的诊断挑战。该研究强调了包括流式细胞术在内的综合诊断检查在治疗非典型T-ALL中的重要性。它强调了T-ALL中常见的异常免疫表型诊断的复杂性，强调了详细的分子和免疫表型分析来指导治疗计划的必要性。在我们的研究中，发现CD10是最常见的异常免疫表型，正如之前报道的那样。唯一一例免疫表型异常的成人患者共表达3个CD标记物，1例儿科患者共表达2个CD标记物，这是罕见的。我们的病例均未出现CD19、CD15和CD11b的异常表达。

{"title":"A comprehensive analysis of aberrant immunophenotypes in T-ALL","authors":"Chintamani Pathak, Neha Aggarwal, Smriti Sharan, Siddhartha Sankar Samanta","doi":"10.1016/j.hmedic.2025.100347","DOIUrl":"10.1016/j.hmedic.2025.100347","url":null,"abstract":"<div><div>T cell Acute Lymphoblastic Leukemia (T-ALL) is an aggressive hematologic malignancy characterized by the clonal proliferation of immature T lymphocytes. It accounts for approximately 15 % of childhood ALL cases. Aberrant expression of immunophenotype markers is not uncommon in Acute leukemia, especially T-ALL. Aberrant phenotype in T ALL previously are CD10, CD19,CD79a, CD13, CD33, CD117, CD15 and CD11b. In this case series, we describe clinicopathological profile of 7 T ALL cases with aberrant immunophenotype. All cases diagnosed as T ALL on flow cytometry over a period of 2.5 years were included in this study with emphasis on cases expressing aberrant immunophenotype.Among 29 diagnosed cases T ALL, 8 cases exhibited expression of aberrant markers CD10 (6 cases, paediatric), CD33 (1 case, paediatric),CD117 (1 case, paediatric)co expression of CD10 and CD33 (1 case, paediatric), co expression of CD10, CD79a and CD13 (1 case, adult). The detection of aberrant immunophenotypic markers in T-ALL poses considerable diagnostic challenges. The study underscores the importance of comprehensive diagnostic workup including flowcytometry in managing atypical presentations of T-ALL. It highlights the diagnostic complexity of common & uncommon aberrant immunophenotypes in T-ALL, emphasizing the need for detailed molecular and immunophenotypic profiling to guide treatment planning.In our study, CD10 was found to be the most common aberrant immunophenotype as reported previously. The only adult patient with aberrant immunophenotype had coexpression of 3 CD markers and 1 paediatric case coexpressed 2 CD markers which is rare. None of our cases showed aberrant expression of CD19, CD15 and CD11b.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100347"},"PeriodicalIF":0.0,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144896288","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

Mucinous carcinoma of the breast: A case report and comprehensive literature review 乳腺黏液性癌1例报告及文献复习

Medical Reports

Pub Date : 2025-08-19 DOI: 10.1016/j.hmedic.2025.100346

A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou

Background

Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.

Case summary

We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.

Conclusion

This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.

背景：黏液癌是一种罕见的乳腺癌组织学亚型，占所有病例的1-4 %。它主要影响老年妇女，与其他浸润性乳腺癌相比，通常预后良好。我们报告一例54岁的女性，表现为右乳房缓慢增大的肿块。临床及影像学检查显示右乳房下外侧有分叶状病变。核心穿刺活检证实II级粘液癌的诊断。患者行乳房切除术并前哨淋巴结活检，未发现转移。组织病理学检查证实为纯粹黏液性癌。术后患者行辅助放疗。结论本病例强调了将影像学和组织学特征相结合以确保及时诊断黏液癌的重要性，并强调了在适当处理下其通常良好的预后。

{"title":"Mucinous carcinoma of the breast: A case report and comprehensive literature review","authors":"A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou","doi":"10.1016/j.hmedic.2025.100346","DOIUrl":"10.1016/j.hmedic.2025.100346","url":null,"abstract":"<div><h3>Background</h3><div>Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.</div></div><div><h3>Case summary</h3><div>We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100346"},"PeriodicalIF":0.0,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144865319","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

Recurrent ischemic strokes in a patient with ITP: A case report ITP患者复发性缺血性卒中1例报告

Medical Reports

Pub Date : 2025-08-16 DOI: 10.1016/j.hmedic.2025.100343

Ahmad S. Ali , Yaqian Xu , Walter Husar

Background

Primary Immune Thrombocytopenia (ITP) is typically associated with bleeding risks due to thrombocytopenia. However, paradoxical thrombotic events such as stroke may occur in rare cases, posing a clinical dilemma in management.

Case presentation

We present the case of a 65-year-old male with a history of ITP and recurrent venous thromboembolism who experienced multiple ischemic strokes despite therapeutic anticoagulation. The initial presentation revealed subacute bilateral frontal infarcts while on Rivaroxaban, with extensive workup suggesting a cryptogenic stroke etiology. The patient was subsequently switched to Warfarin and treated for ITP with steroids and Rituximab, resulting in improved platelet counts. Eight months later, he suffered a pontine infarct despite therapeutic INR. His anticoagulation goal was adjusted, and he remained stroke-free on close follow-up.

Discussion:

This case highlights the underrecognized thrombotic risk in ITP patients and the challenges in balancing anticoagulation with bleeding risk. Mechanisms may include increased platelet microparticles and immune-mediated endothelial injury. The individualized INR target and ITP treatment strategy led to improved clinical outcomes.

Conclusion

ITP can predispose patients to thrombotic complications such as stroke, even in the setting of thrombocytopenia. Personalized anticoagulation goals and multidisciplinary care are critical for optimal management. Further studies are needed to establish standardized treatment guidelines for this unique patient population.

原发性免疫性血小板减少症（ITP）通常与血小板减少引起的出血风险相关。然而，矛盾的血栓事件，如中风可能发生在罕见的情况下，提出了一个临床困境的管理。病例介绍：我们报告一位65岁男性，有ITP和静脉血栓栓塞复发史，尽管有抗凝治疗，但仍经历了多次缺血性中风。最初的表现是服用利伐沙班时出现亚急性双侧额叶梗死，广泛的检查提示隐源性卒中病因。患者随后改用华法林，并用类固醇和利妥昔单抗治疗ITP，导致血小板计数改善。8个月后，尽管进行了治疗性INR，他还是患上了脑桥梗死。他的抗凝目标被调整，在密切随访中他仍然没有中风。讨论：本病例强调了ITP患者未被充分认识的血栓形成风险，以及平衡抗凝与出血风险的挑战。其机制可能包括血小板微粒增加和免疫介导的内皮损伤。个体化的INR靶点和ITP治疗策略改善了临床结果。结论即使在血小板减少的情况下，itp也可使患者易发生血栓性并发症，如卒中。个性化抗凝目标和多学科护理是最佳管理的关键。需要进一步的研究来为这一独特的患者群体建立标准化的治疗指南。

{"title":"Recurrent ischemic strokes in a patient with ITP: A case report","authors":"Ahmad S. Ali , Yaqian Xu , Walter Husar","doi":"10.1016/j.hmedic.2025.100343","DOIUrl":"10.1016/j.hmedic.2025.100343","url":null,"abstract":"<div><h3>Background</h3><div>Primary Immune Thrombocytopenia (ITP) is typically associated with bleeding risks due to thrombocytopenia. However, paradoxical thrombotic events such as stroke may occur in rare cases, posing a clinical dilemma in management.</div></div><div><h3>Case presentation</h3><div>We present the case of a 65-year-old male with a history of ITP and recurrent venous thromboembolism who experienced multiple ischemic strokes despite therapeutic anticoagulation. The initial presentation revealed subacute bilateral frontal infarcts while on Rivaroxaban, with extensive workup suggesting a cryptogenic stroke etiology. The patient was subsequently switched to Warfarin and treated for ITP with steroids and Rituximab, resulting in improved platelet counts. Eight months later, he suffered a pontine infarct despite therapeutic INR. His anticoagulation goal was adjusted, and he remained stroke-free on close follow-up.</div></div><div><h3>Discussion:</h3><div>This case highlights the underrecognized thrombotic risk in ITP patients and the challenges in balancing anticoagulation with bleeding risk. Mechanisms may include increased platelet microparticles and immune-mediated endothelial injury. The individualized INR target and ITP treatment strategy led to improved clinical outcomes.</div></div><div><h3>Conclusion</h3><div>ITP can predispose patients to thrombotic complications such as stroke, even in the setting of thrombocytopenia. Personalized anticoagulation goals and multidisciplinary care are critical for optimal management. Further studies are needed to establish standardized treatment guidelines for this unique patient population.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100343"},"PeriodicalIF":0.0,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157642","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