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Treatment-induced mania in a patient with narcolepsy with cataplexy case report 嗜睡症伴惊厥患者治疗诱发的躁狂症病例报告
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100101
Roberto Galea, Elsa Cassar, Anthony Zahra

Modafinil is a psychostimulant primarily used to manage sleep disorders, multiple sclerosis, and both unipolar and bipolar depression. Despite the risk of precipitating mania and psychosis, it is also employed as a non-antipsychotic augmentation therapy in schizophrenia. Only two case reports documented managing mania and narcolepsy with co-prescribed lithium carbonate. Below we discuss a case of treatment-induced mania in a gentleman diagnosed with Bipolar Affective Disorder (BPAD) comorbid with type I narcolepsy who was prescribed modafinil, venlafaxine and fluoxetine. The successful mood stabilisation with lithium carbonate suggests a potential role for mood stabilisers in such cases. This case report underscores the complexity of treating narcolepsy with comorbid psychiatric conditions and the importance of comprehensive evaluation and tailored management.

莫达非尼是一种精神兴奋剂,主要用于治疗睡眠障碍、多发性硬化症以及单相和双相抑郁症。尽管莫达非尼有诱发躁狂症和精神病的风险,但也被用作精神分裂症的非抗精神病增强疗法。仅有两份病例报告记录了使用联合处方碳酸锂治疗躁狂症和嗜睡症的情况。下面我们将讨论一例被诊断为双相情感障碍(BPAD)并发I型嗜睡症的患者,在接受莫达非尼、文拉法辛和氟西汀治疗后诱发躁狂症的病例。使用碳酸锂成功地稳定了患者的情绪,这表明情绪稳定剂在此类病例中具有潜在的作用。本病例报告强调了治疗合并精神疾病的嗜睡症的复杂性,以及综合评估和定制管理的重要性。
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引用次数: 0
Rare compound mutation of EGFR L858R and E709A identified in both solid tumor and liquid biopsy of a lung adenocarcinoma patient 在一名肺腺癌患者的实体瘤和液体活检中发现表皮生长因子受体 L858R 和 E709A 的罕见复合突变
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100100
Prerana Jha , Vaishakhi Trivedi , Minit Shah , Irene A. George , Pooja Mahesh Kulkarni , Neha Sharma , Venkataramanan Ramachandran , Vanita Noronha , Kumar Prabhash , Prashant Kumar

Non-small cell lung cancer (NSCLC) is the most common subtype of lung cancer. Among NSCLC, lung adenocarcinoma is majorly characterized by driver activating mutations in the EGFR (Epidermal growth factor receptor) gene, covering exons-18, 19, and 21. The most frequently observed mutations are the classical mutations Exon–19 E746_A750 deletion, and Exon - 21 L858R, EGFR exon-18 G719X than the rare variants of these genes. Besides classical mutations and other rare mutations, compound mutations are not very profound. Here, in this present case report, we identified the rare occurrence of EGFR E709A and L858R in tissue and liquid biopsy sample of the patient. The identified compound mutation had been validated in FFPE (formalin fixed paraffin embedded) tissue sample by Sanger sequencing. In addition, the concordance of the rare variants in tumor tissue as well as liquid biospy strongly suggests the clinical utility of liquid biopsy. The patient had been treated with single agent gefitinib which showed mixed response and later treatment had been upgraded to pemetrexed + carboplatin + gefitinib. The sensitivity and specificity of NGS technology provide an opportunity to identify uncommon variants, which opens up a wider avenue for targeted therapeutics.

非小细胞肺癌(NSCLC)是最常见的肺癌亚型。在 NSCLC 中,肺腺癌的主要特征是表皮生长因子受体(EGFR)基因中的驱动激活突变,包括外显子-18、19 和 21。与这些基因的罕见变异相比,最常见的突变是经典突变 Exon-19 E746_A750 缺失、Exon-21 L858R、表皮生长因子受体外显子-18 G719X。除了经典突变和其他罕见突变外,复合突变并不常见。在本病例报告中,我们在患者的组织和液体活检样本中发现了罕见的表皮生长因子受体 E709A 和 L858R。通过 Sanger 测序,我们在 FFPE(福尔马林固定石蜡包埋)组织样本中验证了所发现的复合突变。此外,肿瘤组织和液体活检中罕见变异的一致性也有力地证明了液体活检的临床实用性。该患者曾接受单药吉非替尼治疗,但反应不一,后来治疗升级为培美曲塞+卡铂+吉非替尼。NGS 技术的灵敏度和特异性为确定不常见的变异提供了机会,从而为靶向治疗开辟了更广阔的途径。
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引用次数: 0
Encephalitis & hemophagocytic lymphohistiocytosis secondary to dengue hemorrhagic fever: A case report 登革出血热继发脑炎和嗜血细胞淋巴组织细胞增多症:病例报告
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100103
S.D.R. Rajapaksha , S.R.M.D. Ranabahu , W.M.Y.L Wijekoon , M. Caldera , P. Rubasinghe , S.G.T. Rathnasekara , C.N. Sarathchandra , SH Siribaddana

Hemophagocytic lymphohistiocytosis (HLH)1 is a fatal disease that may occur as a primary inherited or secondary due to several causes, including infections such as dengue. Encephalitis and encephalopathy are the most common neurological presentations of dengue. A 17-year-old female, after the critical period of dengue, developed tachycardia, rigidity, deteriorating consciousness level, seizures, and stereotyped movements. Fever did not remit and was subsequently diagnosed as HLH with ferritin more than 30,000 ng/mL and treated with steroids. This case report describes a patient who survived despite having an unusual combination of dengue hemorrhagic fever, encephalitis, and HLH.

嗜血细胞淋巴组织细胞增多症(HLH)1 是一种致命的疾病,可能是原发性遗传病,也可能是由登革热等感染引起的继发性疾病。脑炎和脑病是登革热最常见的神经系统表现。一名 17 岁女性在登革热危重期后出现心动过速、全身僵硬、意识水平下降、抽搐和刻板动作。高烧不退,随后被诊断为铁蛋白超过 30,000 纳克/毫升的 HLH,并接受了类固醇治疗。本病例报告描述了一名在登革出血热、脑炎和 HLH 罕见组合的情况下仍存活下来的患者。
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引用次数: 0
A case report of right foot eumycetoma caused by Corynespora cassiicola in Sudan with review of literature 苏丹一例由 Corynespora cassiicola 引起的右足umycetoma 病例报告及文献综述。
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100098
Najwa A. Mhmoud

Corynespora includes plant pathogenic species with a worldwide distribution and a wide host range, particularly cereals and grass.

We describe a case of black grains eumycetoma of the right foot of 33 years old Sudanese male caused by Corynespora cassiicola after 55 years from the first case reported by Mahgoub ES in 1969. The fungus was successfully identified based on the cultural and molecular techniques as a Corynespora cassiicola. The clinical strain showed low MIC to itraconazole (0.12 µg/ml). Therefore our patient received 200 mg itraconazole BID and folic acid 5 mg once per day. A good clinical response to medical treatment was seen as the sinuses started to heal and the lesions decreased in size. There was no recurrence at the time of the one-year follow up.

In conclusion, updated taxonomy is essential to identify the new causative agents to the species level and is fundamental to elucidate the eumycetoma associated with this unusual fungus and to determine the appropriate therapy.

我们描述了一例由 Corynespora cassiicola 引起的 33 岁苏丹男性右足黑粒肿病例,该病例距 1969 年 Mahgoub ES 报告的首例病例已有 55 年之久。根据培养和分子技术,该真菌被成功鉴定为 Corynespora cassiicola。临床菌株对伊曲康唑的 MIC 值很低(0.12 µg/ml)。因此,我们的患者接受了伊曲康唑 200 毫克,每天两次,叶酸 5 毫克,每天一次。随着鼻窦开始愈合,病灶缩小,患者对药物治疗产生了良好的临床反应。总之,更新分类法对于确定新的致病菌的种类至关重要,也是阐明与这种不常见真菌相关的真菌瘤并确定适当治疗方法的基础。
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引用次数: 0
Managing unpredictable challenge of a liver injury in ornidazole use: A case report 处理使用奥硝唑过程中不可预测的肝损伤挑战:病例报告
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100097
Ali Can Memiş , Sena Yazıcı Alcan , Sultan Gözde Temiz , Feyza Başar , Kadem Arslan

Ornidazole, a synthetic nitroimidazole derivative, is a commonly prescribed antiparasitic drug for parasitic infestations, including amebiasis, giardiasis, and Trichomonas vaginalis. While rare, ornidazole-related hepatotoxicity has been reported in a limited number of cases. In such cases, it can be challenging to identify whether elevated liver enzymes are a result of drug-induced hepatitis or autoimmune hepatitis. However, differentiating between these two conditions is crucial for determining the most appropriate treatment approach. Our observations indicate that nitroimidazole derivatives can cause hepatotoxic damage similar to autoimmune hepatitis and drug-induced hepatitis.

奥硝唑是一种合成的硝基咪唑衍生物,是治疗阿米巴病、贾第虫病和阴道毛滴虫等寄生虫感染的常用抗寄生虫药物。奥硝唑相关肝毒性虽然罕见,但也有少量病例报道。在此类病例中,鉴别肝酶升高是药物性肝炎还是自身免疫性肝炎的结果可能具有挑战性。然而,区分这两种情况对于确定最合适的治疗方法至关重要。我们的观察结果表明,硝基咪唑衍生物可导致类似于自身免疫性肝炎和药物性肝炎的肝毒性损害。
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引用次数: 0
Bortezomib-induced hepatotoxicity in a patient with multiple myeloma: A case report "多发性骨髓瘤患者的硼替佐米肝毒性:病例报告"
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100099
Karam Karam , Houssein Chebbo , Sarah Saleh , Emanuel Youssef Dib , Elias Fiani , Maroun Sadek

We describe a case of 72-year-old female patient diagnosed with multiple myeloma (MM) in 2023, who presented with generalized fatigue. Patient was found to have elevated liver enzymes on biochemical workup. Her hepatotoxicity was attributed to Bortezomib therapy after ruling out other etiologies. Initially, patient’s liver enzymes were normal prior to Bortezomib initiation. However, her liver enzymes started trending up at day 3 during her second session of Bortezomib. Liver function tests normalized 2 weeks after discontinuing Bortezomib. This fact points to a drug-induced liver injury (DILI) whereby Bortezomib is the likely culprit. Patient was started on thalidomide-containing regimen thereafter. Her liver enzymes remained within normal range following thalidomide-based regimen.

我们描述了一例于 2023 年被诊断为多发性骨髓瘤(MM)的 72 岁女性患者的病例。生化检查发现患者肝酶升高。在排除其他病因后,她的肝毒性归因于硼替佐米治疗。开始使用硼替佐米前,患者的肝酶最初是正常的。然而,在第二个硼替佐米疗程的第 3 天,她的肝酶开始呈上升趋势。停用硼替佐米两周后,肝功能检测结果恢复正常。这一事实表明,硼替佐米可能是药物性肝损伤(DILI)的罪魁祸首。此后,患者开始接受含沙利度胺的治疗方案。在使用沙利度胺治疗方案后,她的肝酶仍在正常范围内。
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引用次数: 0
Unusual presentation of sarcoidosis of the breast mimicking metastatic breast cancer analyzed with digital breast tomosynthesis vacuum assisted biopsy (DBT-VAB): A rare case report 通过数字乳腺断层扫描真空辅助活检(DBT-VAB)分析模仿转移性乳腺癌的乳腺肉样瘤病的不寻常表现:罕见病例报告。
Pub Date : 2024-08-01 DOI: 10.1016/j.hmedic.2024.100104
Valentina Picariello , Giorgia Rossi , Clarissa Alfieri , Flavio Pironi , Luca Saragoni , Dolores Santini

We present a case of breast sarcoidosis with a distinctive radiological presentation. The patient, a 47-year-old asymptomatic woman, underwent a routine screening mammogram that identified a small, slightly denser mass in the right upper quadrants of the breast, not seen in previous exams. Ultrasonography did not detect a breast mass; however, suspicious lymph nodes were noted in the ipsilateral axillary cavity. A fine-needle aspiration (US-FNA) was performed on one of these lymph nodes. Subsequently, digital breast tomosynthesis-guided vacuum-assisted biopsy (DBT-VAB) was conducted on the mammographic finding, confirming the diagnosis of sarcoidosis.

我们介绍了一例具有独特放射学表现的乳腺肉样瘤病。患者是一名 47 岁的无症状女性,在接受常规乳房 X 光筛查时,发现乳房右上象限有一个小的、稍致密的肿块,这在以前的检查中没有发现过。超声波检查未发现乳房肿块,但在同侧腋窝发现可疑淋巴结。对其中一个淋巴结进行了细针穿刺(US-FNA)。随后,在数字乳腺断层扫描引导下进行了真空辅助活检(DBT-VAB),确诊为肉样瘤病。
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引用次数: 0
Challenges in diagnosing leukocyte adhesion deficiency in Syria: A case report 诊断叙利亚白细胞粘附缺陷症的挑战:病例报告
Pub Date : 2024-07-30 DOI: 10.1016/j.hmedic.2024.100105
Leen Sumakie , Mohamad Amir Balloura , Mohammad AL Smadi , Rama Alsaqqa , Rami Sabouni , Groob Alkhayer

Introduction

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by improper primary immune response due to absent or decreased adhesion molecules, leading to impaired neutrophil migration into surrounding tissues. LAD is divided into four subtypes: LAD-I, LAD-II, LAD-III, and LAD-IV, based on the underlying mutations. Clinical presentation typically includes recurrent infections and neutrophilia, and it is confirmed through flow cytometry and genetic testing. However, these diagnostic methods may not be available during wartime. Here, we present a case of LAD in a Syrian infant.

Case presentation

A 2-month-old infant born to consanguineous parents presented with recurrent skin lesions in the groin and axillary region, accompanied by fever, night sweats, anorexia, and milky vomits twice a day. Clinical examination revealed a 3×4 cm umbilical hernia, multiple ulcerated skin lesions with a base of yellow necrotic tissue in the groin, and a 2.5 cm ulcer in the axilla. The laboratory tests confirm the presence of neutrophilia (WBC: 64.07 ×109/L; Neutrophils: 79 %), raising suspicion for LAD. However, confirmation through flow cytometry and genetic testing was not possible due to unavailability. Antibiotics were administered, but the patient was discharged against medical advice.

Conclusion

The scarcity of documented LAD cases from Syria, coupled with the lack of resources to confirm the diagnoses of LAD using flow cytometry, highlights the need for a structured approach to such cases based on clinical presentation and available laboratory findings. This approach is crucial for ensuring timely diagnosis and appropriate management, especially in resource-constrained settings affected by conflict.

导言白细胞粘附缺陷症(LAD)是一种罕见的常染色体隐性遗传疾病,其特征是由于粘附分子缺失或减少导致中性粒细胞向周围组织迁移受损,从而引起不正常的原发性免疫反应。LAD 可分为四个亚型:LAD-I、LAD-II、LAD-III 和 LAD-IV。临床表现通常包括反复感染和中性粒细胞增多,可通过流式细胞术和基因检测确诊。然而,这些诊断方法在战时可能无法使用。病例介绍一名 2 个月大的婴儿,其父母为近亲结婚,出生时腹股沟和腋窝部位反复出现皮损,伴有发热、盗汗、厌食和每天两次的乳白色呕吐物。临床检查发现脐疝 3×4 厘米,腹股沟多处皮肤溃疡,基底为黄色坏死组织,腋窝有一个 2.5 厘米的溃疡。实验室检查证实存在中性粒细胞增多现象(白细胞:64.07 ×109/L;中性粒细胞:79%),这引起了对 LAD 的怀疑。然而,由于无法进行流式细胞术和基因检测,因此无法通过流式细胞术和基因检测进行确诊。结论 叙利亚记录在案的 LAD 病例很少,加上缺乏使用流式细胞术确诊 LAD 的资源,这突出表明有必要根据临床表现和现有实验室结果对此类病例采取结构化方法。这种方法对于确保及时诊断和适当管理至关重要,尤其是在受冲突影响、资源有限的环境中。
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引用次数: 0
Efficacy of concentrated growth factor on soft and hard tissues around dental implants a case report 浓缩生长因子对植牙周围软组织和硬组织的疗效病例报告
Pub Date : 2024-07-14 DOI: 10.1016/j.hmedic.2024.100096
Sitamahalakshmi K , Sai Krishna Bingi , Bhuvanesh Yanamala , Oshin Mary

Dental implants are long-term successful when the osteointegration is maintained with little yearly loss of crestal bone. The current study assesses the crestal bone loss surrounding Osseo integrated implants by adding a concentrated growth factor as an extra factor to maintain the crestal bone levels. The research comprised single patient with a single edentulous location. Along with the implant, concentrated growth factor is inserted. Three and nine months after the implant was implanted, assessments of soft tissue characteristics such as the sulcus bleeding index and plaque index were conducted. Hard tissue metrics, such as volume and bone density, were measured using cone-beam computed tomography both nine months after implant implantation and immediately following implant placement. baseline and nine-month markers were compared, several hard and soft tissue parameters indicated a significant change at nine months. By elevating the density and volume of bone surrounding dental implants, concentrated growth factor can be used as a breakthrough in customized medicine to promote quicker healing and osseous regeneration.

如果骨整合得以维持,而骨嵴每年损失很少,那么种植牙就能长期成功。本研究通过添加浓缩生长因子作为维持骨嵴水平的额外因子,对 Osseo 一体化种植体周围的骨嵴损失进行了评估。研究对象为单个缺牙部位的患者。在植入种植体的同时,还植入了浓缩生长因子。种植体植入 3 个月和 9 个月后,对软组织特征(如沟出血指数和斑块指数)进行评估。种植体植入九个月后和植入后立即使用锥形束计算机断层扫描测量了骨量和骨密度等硬组织指标。对基线和九个月的指标进行比较后发现,九个月时一些硬组织和软组织指标发生了显著变化。通过提高牙科植入物周围骨质的密度和体积,浓缩生长因子可作为定制医学的一个突破口,促进快速愈合和骨质再生。
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引用次数: 0
The relentless right ear pain: A case report 难以忍受的右耳疼痛病例报告
Pub Date : 2024-07-10 DOI: 10.1016/j.hmedic.2024.100095
Amy Davis, Gabriel Autry

Background

Fusobacterium necrophorum is an anaerobic gram-negative rod commonly found in humans' gastrointestinal and respiratory tracts. While classically associated with Lemierre's syndrome, F. necrophorum can cause pharyngitis, sinusitis, and otitis, especially in young adults. On rare occasions, it can progress to lifethreatening complications including meningitis, intracranial abscess, and sinus thrombosis.

Case Report

Case Report-An adolescent presented multiple times in one week for persistent right ear pain. Despite treatment, the patient continued to worsen and presented to the emergency department after developing fever, lethargy, and vomiting. Lumbar puncture confirmed meningitis with over 250 white blood cells x10∼3/UL. The patient was transferred to a children's hospital, where cavernous sinus thrombosis was also identified. The patient underwent mastoidectomy and started on heparin intravenously. Upon discharge, he transitioned to enoxaparin and later rivaroxaban for three months. Why should an emergency physician be aware of this? Fusobacterium necrophorum is a rare cause of otitis and meningitis but can be deadly if not treated appropriately. As a gram-negative anaerobe, standard meningitis treatment does not adequately treat this organism. Significant morbidity and mortality are associated with this disease.

背景坏死杆菌是一种厌氧革兰阴性杆菌,常见于人类的胃肠道和呼吸道。虽然该病通常与莱米埃尔综合征有关,但它也可引起咽炎、鼻窦炎和中耳炎,尤其是在青壮年中。在极少数情况下,它会发展成脑膜炎、颅内脓肿和鼻窦血栓等危及生命的并发症。病例报告病例报告--一名青少年在一周内多次因持续性右耳疼痛就诊。尽管接受了治疗,但患者的病情持续恶化,并在出现发热、嗜睡和呕吐后到急诊科就诊。腰椎穿刺确诊为脑膜炎,白细胞超过 250 x10∼3/UL。患者被转到一家儿童医院,在那里还发现了海绵窦血栓。患者接受了乳突切除术,并开始静脉注射肝素。出院后,他转而使用依诺肝素,后来又使用利伐沙班三个月。急诊医生为什么要注意这一点?坏死杆菌是引起中耳炎和脑膜炎的一种罕见病原体,但如果治疗不当也可能致命。作为一种革兰氏阴性厌氧菌,标准的脑膜炎治疗方法并不能充分治疗这种病菌。这种疾病的发病率和死亡率都很高。
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引用次数: 0
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