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When common diagnoses fail: The complexity of sarcoidosis in the elderly: Case report 常见诊断失败时:老年结节病的复杂性:病例报告
Pub Date : 2025-09-03 DOI: 10.1016/j.hmedic.2025.100361
Farah Ghanim , Sari Zraiq , Nizar Abu Hamdeh , Mohammed Sweilih , Haitham Abu Khadija , Mohammad Alnees
Sarcoidosis is a rare but complex multisystem granulomatous disease that can mimic common respiratory conditions, leading to delayed diagnosis. We present a 75-year-old female with type 2 diabetes and hypertension who experienced persistent cough, fatigue, and occasional unconsciousness for months. Initial workups, including chest X-rays and tuberculosis screening, were inconclusive, and empirical treatments for pneumonia failed to provide relief. Her condition progressed to significant weight loss, night sweats, and lymphadenopathy. High-resolution computed tomography (HRCT) later revealed mediastinal lymphadenopathy, bilateral infiltrates, and pulmonary nodules, strongly suggesting sarcoidosis. Due to biopsy refusal, histological confirmation was unavailable, yet her dramatic response to corticosteroids and methotrexate solidified the diagnosis. This case highlights the importance of early suspicion, serial imaging, and clinical response in diagnosing sarcoidosis, especially in elderly patients, where histopathological confirmation may not be feasible.
结节病是一种罕见但复杂的多系统肉芽肿性疾病,可模仿常见的呼吸系统疾病,导致诊断延误。我们报告一位75岁的女性2型糖尿病和高血压患者,持续咳嗽,疲劳,偶尔昏迷数月。最初的检查,包括胸部x光片和肺结核筛查,都没有定论,对肺炎的经验性治疗也没有起到缓解作用。她的病情发展为明显的体重减轻、盗汗和淋巴结病。高分辨率计算机断层扫描(HRCT)显示纵隔淋巴结病变,双侧浸润和肺结节,强烈提示结节病。由于活检拒绝,无法获得组织学证实,但她对皮质类固醇和甲氨蝶呤的显著反应巩固了诊断。该病例强调了结节病诊断的早期怀疑、连续影像和临床反应的重要性,特别是在老年患者中,组织病理证实可能是不可行的。
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引用次数: 0
Atypical adult-onset Henoch-Schönlein purpura in a female patient from Bangladesh: Post-streptococcal vasculitis without IgA deposition – A case report 孟加拉国女性患者的非典型成人发病Henoch-Schönlein紫癜:链球菌感染后血管炎无IgA沉积- 1例报告
Pub Date : 2025-09-02 DOI: 10.1016/j.hmedic.2025.100359
Zahin Shahriar, Sakib Abrar , Soumik Roy, Shaimul Reza, Fabiha Rahman, Tushar Kanti Bhadra
Adult-onset Henoch-Schönlein Purpura (HSP), although much less common than in children, tends to display a much more sinister clinical course. This case is about a 35-year-old female who presented with polyarthritis, abdominal pain, and purpuric rash- symptoms aligning with those of IgA vasculitis. Furthermore, she had a history of a recent sore throat, an elevated antistreptolysin O (ASO) titer, and her skin biopsy demonstrated leuko-cytoclastic vasculitis-all suggestive of post-streptococcal origin. However, the Direct Immunofluorescence (DIF) test results were negative for the expected IgA deposits. Adult-onset HSP exhibits rather diverse clinical manifestations that often defy the textbook descriptions; noticeable patient improvement after initiation of corticosteroid therapy underscores the importance of its early recognition. Adult HSP, therefore, warrants a high degree of diagnostic scrutiny and an eye for the culprit infectious agents.
成人发病Henoch-Schönlein紫癜(HSP),虽然比儿童少得多,但往往表现出更险恶的临床过程。这个病例是一个35岁的女性,她表现为多关节炎、腹痛和紫癜性皮疹,这些症状与IgA血管炎的症状一致。此外,她最近有喉咙痛史,抗溶血素O (ASO)滴度升高,皮肤活检显示白细胞分裂性血管炎,所有这些都提示链球菌感染后的起源。然而,直接免疫荧光(DIF)检测结果对预期的IgA沉积呈阴性。成人发病HSP表现出相当多样化的临床表现,往往无视教科书的描述;在皮质类固醇治疗开始后,明显的患者改善强调了早期识别的重要性。成人热休克,因此,保证了高度的诊断审查和眼睛的罪魁祸首的传染性病原体。
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引用次数: 0
Septo-optic dysplasia: A case report and systematic literature review 视隔发育不良1例报告及系统文献复习
Pub Date : 2025-08-30 DOI: 10.1016/j.hmedic.2025.100357
Y. Mouhcine , S. Beyyato , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , Y.Alaoui Lamrani , M. Maaroufi , M. Boubbou
Septo-optic dysplasia, also referred to as ‘De-Morsier syndrome’, is a rare congenital disorder characterized by a combination of midline brain abnormalities, optic nerve hypoplasia (ONH), and hypothalamic pituitary dysfunction. In this paper, we present typical magnetic resonance imaging (MRI) findings and clinical manifestations of septo-optic dysplasia in a 3-year-old male patient, followed up by a literature review to highlight the crucial role of imaging, especially MRI, in the early diagnosis of this condition. Early clinical suspicion, along with radiological imaging, is crucial for a prompt diagnosis and effective management of patients with this condition.
视中隔发育不良,也被称为“De-Morsier综合征”,是一种罕见的先天性疾病,其特征是脑中线异常、视神经发育不全(ONH)和下丘脑垂体功能障碍的结合。在本文中,我们报告了一名3岁男性患者的典型磁共振成像(MRI)表现和临床表现,并通过文献综述来强调影像学,特别是MRI在早期诊断这种疾病中的重要作用。早期临床怀疑以及放射成像对于及时诊断和有效治疗此病患者至关重要。
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引用次数: 0
Late-onset afebrile neonatal bacteremia due to nontypeable Haemophilus influenzae: A case report 不可分型流感嗜血杆菌引起的迟发性发热新生儿菌血症:1例报告
Pub Date : 2025-08-29 DOI: 10.1016/j.hmedic.2025.100356
Wataru Anzai, Yoshitaka Watanabe, Naomi Yagi, Masaki Yamaguchi, Nobuhiro Kawai, Hirokazu Ikeda
Haemophilus influenzae type b (Hib) vaccine has significantly reduced invasive Haemophilus influenzae disease (IHD) in Japan, but it has no effect on nontypeable Haemophilus influenzae (NTHi). IHD caused by NTHi remains a common issue among neonates. This report presents a case of neonatal late-onset bacteremia caused by NTHi without typical symptoms such as fever and elevated serum C-reactive protein (CRP) levels. A Japanese girl, born prematurely as the first twin, was hospitalized for lip cyanosis and a cough. Initial hematological and radiological investigations revealed no significant abnormalities except for hypocomplementemia. However, she experienced frequent apneic attacks with bradycardia and cyanosis on the first night. NTHi bacteremia, diagnosed by blood culture was identified in subsequent diagnostic procedures. Clinical improvement was observed with antibiotic treatment, despite afebrile and no elevated CRP levels during hospitalization. Previous reports indicate that late-onset IHD at > 48 h of age is rare with unclear clinical course. This case underscores the importance of considering NTHi as a potential pathogen in neonatal bacteremia, even without typical symptoms like fever and elevated CRP levels. blood samples for culture remain crucial for diagnosing bacteremia, particularly in atypical presentations.
b型流感嗜血杆菌(Hib)疫苗在日本显著减少了侵袭性流感嗜血杆菌病(IHD),但对不可分型流感嗜血杆菌(NTHi)没有效果。NTHi引起的IHD在新生儿中仍然是一个常见问题。本报告报告一例新生儿迟发性菌血症,由NTHi引起,无典型症状,如发烧和血清c反应蛋白(CRP)水平升高。一个早产的日本女孩,作为双胞胎中的第一个,因为嘴唇发绀和咳嗽而住院。最初的血液学和放射学检查显示,除了补体不足外,没有明显的异常。然而,在第一个晚上,她经历了频繁的呼吸暂停发作,心动过缓和发绀。通过血培养诊断的NTHi菌血症在随后的诊断程序中被确定。临床改善观察抗生素治疗,尽管发热和住院期间CRP水平未升高。先前的报告表明,年龄在>; 48 h的迟发性IHD是罕见的,临床病程不明确。该病例强调了将NTHi视为新生儿菌血症潜在病原体的重要性,即使没有发烧和CRP水平升高等典型症状。用于培养的血液样本对于诊断菌血症仍然至关重要,特别是在非典型表现下。
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引用次数: 0
Management of glyphosate poisoning with continuous renal replacement therapy (CRRT): A case report 持续肾替代治疗(CRRT)治疗草甘膦中毒1例报告
Pub Date : 2025-08-28 DOI: 10.1016/j.hmedic.2025.100355
Ramesh Yelanati , Dharanindra Moturu , Ramesh Babu Potineni , Supriya Rayana , Kondaveeti Devaki , Mohammad Noor Shaik
Glyphosate is a commonly used herbicide, and its toxicity is primarily due to the uncoupling of oxidative phosphorylation and polyoxymethylene amine (POEA) mediated cardiotoxicity. A 64-year-old was brought to the hospital with an alleged history of consumption of glyphosate. The patient has a known history of ischemic heart disease with a ejection fraction. ECG showed QT prolongation. Given the risk of metabolic acidosis and hyperkalemia, in the background of low cardiac output, continuous renal replacement therapy (CRRT) was initiated. The patient was hemodynamically stable after CRRT sessions and was discharged from the ICU. This case highlights the potential role of CRRT in managing glyphosate poisoning, particularly in patients with significant cardiac comorbidities.
草甘膦是一种常用的除草剂,其毒性主要是由于氧化磷酸化解偶联和聚甲醛胺(POEA)介导的心脏毒性。一名64岁男子被送往医院,据称有食用草甘膦的历史。患者有已知的缺血性心脏病史并有射血分数。心电图显示QT延长。考虑到代谢性酸中毒和高钾血症的风险,在低心输出量的背景下,开始了持续肾替代治疗(CRRT)。CRRT疗程后患者血流动力学稳定,出院。该病例强调了CRRT在处理草甘膦中毒中的潜在作用,特别是在有严重心脏合并症的患者中。
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引用次数: 0
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
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。
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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
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。
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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
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。
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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
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。
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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
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。
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引用次数: 0
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