Medical Reports最新文献

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US medical education landscape: Now and beyond 美国医学教育格局：现在和未来

Medical Reports

Pub Date : 2024-10-30 DOI: 10.1016/j.hmedic.2024.100127

Farzana Hoque

引用次数: 0

Recurrent cerebral venous thrombosis in a child due to Factor V Leiden mutation leading to activated protein C resistance: A case report 因子 V Leiden 突变导致活化蛋白 C 抗性，导致一名儿童反复出现脑静脉血栓：病例报告

Medical Reports

Pub Date : 2024-10-28 DOI: 10.1016/j.hmedic.2024.100126

S. El Gazzane , G. Jaabouti , S. Aminou , N. El Hafidi , A. Masrar , H. Andour , L. Chat , C. Mahraoui , S. Benchekroun

Background

Because of the Factor V Leiden Mutation, activated protein C resistance is the most common hereditary condition predisposing individuals to venous thrombosis in infancy and childhood. The prevalence of this mutation varies among ethnic groups and geographical regions. Laboratory tests for thrombophilic markers, including Activated Protein C Resistance (APCR) and Factor V Leiden, are essential for diagnosis. While genetic tests are essential for confirming the diagnosis, determining homozygous or heterozygous status, and assessing recurrence risk, coagulation methods often use APCR detection as the primary screening approach.

Case presentation

We describe a 10-year-old North African male patient with recurrent thrombosis of the right internal jugular vein who was found to have protein C resistance. Further genetic testing revealed that the patient is heterozygous for the Factor V Leiden mutation.

Conclusions

This case highlights the importance of considering the Factor V Leiden mutation in pediatric patients presenting with recurrent venous thrombosis. Early detection and accurate diagnosis are critical for effective management and prevention of future thrombotic events.

背景由于因子 V Leiden 突变，活化蛋白 C 抗性是婴幼儿时期最常见的易患静脉血栓的遗传性疾病。这种突变的发生率因种族群体和地理区域而异。嗜血栓标记物的实验室检测，包括活化蛋白 C 抵抗（APCR）和因子 V 莱登（Factor V Leiden），对诊断至关重要。虽然基因检测对于确诊、确定同卵或异卵状态以及评估复发风险至关重要，但凝血方法通常将 APCR 检测作为主要筛查方法。病例介绍我们描述了一名右颈内静脉反复血栓形成的 10 岁北非男性患者，他被发现患有蛋白 C 抗性。进一步的基因检测发现，该患者是因子 V Leiden 突变的杂合子。结论本病例强调了考虑因子 V Leiden 突变对反复出现静脉血栓的儿童患者的重要性。早期发现和准确诊断对于有效治疗和预防未来的血栓事件至关重要。

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引用次数: 0

Intestinal lymphangiectasia secondary to chronic midgut volvulus: A rare childhood presentation case report 继发于慢性中肠下垂的肠淋巴管扩张症：罕见的儿童病例报告

Medical Reports

Pub Date : 2024-10-28 DOI: 10.1016/j.hmedic.2024.100125

Jasmin Martin , Narayanan Venkatasubramani , Nancy McGreal

Intestinal lymphangiectasia (IL) is a rare and unusual condition characterized by the abnormal dilation of lymphatic vessels within the intestines. IL can arise from an intrinsic defect in lymphatic development or as a secondary consequence of factors that obstruct the lymphatic system. In this case study, a 2-year-old child presenting with chronic diarrhea, vomiting, and inadequate weight gain was ultimately diagnosed with IL secondary to chronic volvulus, confirmed by CT abdomen/pelvis and MRI abdomen, with persistent manifestations of protein losing enteropathy requiring two exploratory laparotomies. The condition in this patient was attributed to lymphatic obstruction resulting from recurrent episodes of midgut volvulus, which led to impaired lymphatic drainage and subsequent development of IL. The main takeaway from this case reports is the importance of IL to the differential diagnosis because early abdominal imaging and surgical interventions are lifesaving.

肠道淋巴管扩张症（IL）是一种罕见的异常病症，其特征是肠道内淋巴管异常扩张。肠淋巴管扩张症可能源于淋巴管发育的内在缺陷，也可能是淋巴系统受阻的继发性后果。在本病例研究中，一名 2 岁儿童因长期腹泻、呕吐和体重增加不足而最终被诊断为继发于慢性肠道裂孔的 IL，腹部 CT/骨盆和核磁共振腹部成像证实了这一诊断，该患儿持续表现为蛋白丢失性肠病，需要进行两次探查性开腹手术。该患者的病因是反复发作的中肠肠套叠导致淋巴管阻塞，淋巴管引流受阻，继而发展为IL。本病例报告的主要启示是IL在鉴别诊断中的重要性，因为早期腹部成像和手术干预可以挽救患者的生命。

引用次数: 0

A challenge to clinical management: A case of expanded dengue syndrome co-infection with dengue 1 and dengue 3 serotypes in Nepal 临床管理的挑战：尼泊尔一例登革1型和登革3型血清型合并感染的登革热综合征扩大病例

Medical Reports

Pub Date : 2024-10-24 DOI: 10.1016/j.hmedic.2024.100123

Sabin Shrestha , Milan Bajracharya , Sandesh Rimal , Rajshree Bhujel , Bimal Chalise , Yuba Nidhi Basaula , Prasanna Amatya , Shrijana Pandey , Pratik Joshi , Nabaraj Adhikari , Mya Myat Ngwe Tun , Kouichi Morita , Shyam Prakash Dumre , Basu Dev Pandey

Rapid progression to fatal expanded dengue syndrome is unusual, presenting a challenge for clinical management. We present a case of a 32-year-old female with atypical dengue manifestations who underwent extensive evaluation at a Kathmandu infectious disease hospital, including vital signs assessment, clinical scoring, and routine and advanced laboratory analyses. Severe abdominal pain, disorientation, and abnormal hemodynamics with multi-organ involvement were noted with a secondary dengue virus (DENV) infection. Co-infection of DENV-1 and DENV-3, exhibiting high viral loads, was observed, marking the first fatal case of its kind in Nepal. Despite intensive care management, the patient’s condition rapidly deteriorated, leading to fatal expanded dengue syndrome within four days of a hospital visit. This poses a serious challenge to clinicians. Heightened vigilance from the onset of DENV infection is imperative, regardless of serotypes or viral load levels. Predictive markers for early detection and management strategies are urgently needed to achieve the WHO's goal of zero dengue-related deaths by 2030.

登革热综合征迅速发展为致命的扩大型登革热综合征并不常见，这给临床治疗带来了挑战。我们报告了一例有非典型登革热表现的 32 岁女性病例，她在加德满都一家传染病医院接受了广泛的评估，包括生命体征评估、临床评分、常规和高级实验室分析。患者出现剧烈腹痛、神志不清、血流动力学异常并伴有多器官受累，继发登革热病毒（DENV）感染。患者合并感染了 DENV-1 和 DENV-3，病毒载量很高，这是尼泊尔首例此类致命病例。尽管进行了重症监护，但患者的病情迅速恶化，在医院就诊的四天内导致了致命的扩大型登革热综合征。这给临床医生带来了严峻的挑战。无论血清型或病毒载量水平如何，从登革热病毒感染开始就必须提高警惕。为了实现世界卫生组织提出的到 2030 年登革热相关死亡人数为零的目标，迫切需要用于早期检测和管理策略的预测性标记物。

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引用次数: 0

Invasive ductal carcinoma in a male patient: A case report 一名男性患者的浸润性导管癌：病例报告

Medical Reports

Pub Date : 2024-10-23 DOI: 10.1016/j.hmedic.2024.100122

Muhammad Usama Bin Shabbir , Muhammad Bilal , Sikandar Ajmal Abbasi , Afaq Ahmad , Ahmad Abubakr

Introduction and importance

Male breast cancer is a rare condition, representing less than one per cent of all breast cancer cases. It is characterized by late presentation and a higher incidence of metastatic disease due to diagnostic delays. In Pakistan, male breast cancer tends to appear at a younger age than in Western countries. Risk factors include advancing age, hormonal imbalances, and family history. Despite the proven effectiveness of neoadjuvant chemotherapy, its adoption in clinical practice is limited.

Case presentation

This case involves a fifty-six-year-old Pakistani man presenting with a lump in his right breast. The physical examination showed a lump with axillary lymphadenopathy and skin changes. Laboratory tests were within normal ranges, and imaging revealed a highly suspicious lesion in the right breast. After a modified radical mastectomy, the biopsy confirmed grade two invasive ductal carcinoma with lymph node metastasis.

Clinical discussion

The case highlights the need to consider male breast cancer in diagnoses. Male breast cancer differs from female breast cancer in its pathology, with a higher expression of the estrogen receptor-beta. The patient, who tested negative for BRCA1 and BRCA2 mutations, received chemotherapy followed by surgery, underscoring the importance of personalized treatment.

Conclusion

Male breast cancer is among the rarest cancers globally, requiring more research and awareness to improve management and outcomes. Dispelling the myth that breast cancer is a female-only disease is vital for early detection and treatment, which could enhance survival rates.

导言和重要性男性乳腺癌是一种罕见疾病，在所有乳腺癌病例中所占比例不到 1%。其特点是发病较晚，由于诊断延误，转移性疾病的发病率较高。在巴基斯坦，男性乳腺癌的发病年龄往往低于西方国家。风险因素包括年龄增长、内分泌失调和家族史。尽管新辅助化疗的有效性已得到证实，但其在临床实践中的应用却很有限。本病例涉及一名 56 岁的巴基斯坦男子，他的右侧乳房出现肿块。体格检查显示肿块伴有腋窝淋巴结病和皮肤改变。实验室检查在正常范围内，影像学检查发现右侧乳房有一个高度可疑的病变。改良根治性乳房切除术后，活检证实为二级浸润性导管癌，并伴有淋巴结转移。男性乳腺癌在病理上与女性乳腺癌不同，雌激素受体-β的表达更高。该患者的 BRCA1 和 BRCA2 基因突变检测呈阴性，在接受化疗后又进行了手术，这凸显了个性化治疗的重要性。结论男性乳腺癌是全球最罕见的癌症之一，需要更多的研究和认识来改善管理和预后。打破 "乳腺癌是女性专属疾病 "的神话对于早期发现和治疗至关重要，这将提高生存率。

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引用次数: 0

Intestinal type of sinonasal adenocarcinoma with condylar metastases: A case report 伴有髁状突转移的肠型鼻窦腺癌：病例报告

Medical Reports

Pub Date : 2024-10-23 DOI: 10.1016/j.hmedic.2024.100124

Karpagaselvi Sanjai , Sumana Bukanakere Sangappa , Divya Shivalingaiah , Anjum Baker , Roopa Rao

Intestinal type sinonasal adenocarcinoma (ITAC) is a locally aggressive, rare malignancy occurring mostly in elderly males. It is the second most common sinonasal adenocarcinoma, with characteristic microscopic features in their marked resemblance to intestinal mucosa. It also has a well-documented association with prolonged occupational exposure to wood dust. Here we report a case of papillary variant of ITAC originating in the ethmoid sinus with metastasis to the mandibular condyle. A 53 year old male, bookseller by profession reported to outpatient department with difficulty in mouth opening since five months. On examination, he had swelling with pain and tenderness on the right side of face and the right temporomandibular joint (TMJ) area. The radiographs revealed a destructive mass in the right ethmoid sinus, encroaching into the maxillary antrum, orbit and nasal cavity along with beak like erosion of anteromedial aspect of the right condyle. The hematoxylin and eosin stained sections showed presence of glandular structures, recapitulating intestinal mucosal morphology and papillary arrangement of stratified tall columnar cells with dysplastic features. Immunohistochemical stain with CK20, CD-X2, CK7 and villin was positive. The patient was referred to oncology department for further treatment. This case reiterates the importance of proper clinical evaluation of the patient to consider profession related lesions. Metastases from Sinonasal adenocarcinomas can be considered for differential diagnosis for inability to open mouth.

肠型鼻窦腺癌（ITAC）是一种局部侵袭性的罕见恶性肿瘤，多发于老年男性。它是第二种最常见的鼻窦腺癌，显微镜下的特征与肠粘膜非常相似。有充分证据表明，它与长期职业性接触木屑有关。我们在此报告一例原发于乙状窦并转移至下颌骨髁状突的乳头状变异 ITAC。一名 53 岁的男性，职业是书商，因五个月以来张口困难到门诊部就诊。经检查，他的右侧面部和右侧颞下颌关节（TMJ）区域肿胀、疼痛和压痛。X光片显示，右侧乙状窦内有一破坏性肿块，侵及上颌窦、眼眶和鼻腔，右侧髁状突的前内侧有喙状侵蚀。苏木精和伊红染色的切片显示存在腺体结构，再现了肠粘膜形态，乳头状排列的分层高柱状细胞具有发育不良的特征。CK20、CD-X2、CK7和绒毛蛋白免疫组化染色呈阳性。患者被转到肿瘤科接受进一步治疗。本病例再次强调了对患者进行适当临床评估以考虑与专业相关病变的重要性。在无法张口的鉴别诊断中，可以考虑鼻窦腺癌的转移。

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引用次数: 0

Evans syndrome: An uncommon hematological conundrum in a young adult: A case report 埃文斯综合征：一名年轻成人的罕见血液学难题：病例报告

Medical Reports

Pub Date : 2024-10-17 DOI: 10.1016/j.hmedic.2024.100121

Faryal Afridi , Tooba Fida , Muhammad Usama Bin Shabbir , Hasban Ahmad Halim , Ishwa Ghouri , Muhammad Fawad Ashraf

Evans syndrome is a rare autoimmune-mediated cytopenic disorder. We described the case of a male 27-year-old who had a 15-day history of fever, cough, and myalgia. Although the clinical examination other than a fever is unremarkable, blood workup and cytochemistry showed an autoimmune hemolytic reaction and peripheral destruction of platelets consistent with Evans syndrome. The patient was given multiple transfusions of RBC and platelets in addition to oral corticosteroids, parenteral folic acid, and vitamin B12. This case highlights the importance of considering Evans Syndrome in the differential diagnosis and timely management for a better patient outcome. The following prescriptions were given to the patient upon discharge: injectable deltacortil, tab folic acid, and Cap Opt-D. The patient was instructed to come see the outpatient department at the hospital. This case report highlights the uncharted region of Evans Syndrome in Pakistan.

埃文斯综合征是一种罕见的自身免疫介导的细胞减少性疾病。我们描述了一例 27 岁男性患者的病例，他有 15 天的发热、咳嗽和肌痛病史。虽然除发热外，其他临床检查均无异常，但血液检查和细胞化学检查显示，其自身免疫性溶血反应和外周血小板破坏与埃文斯综合征一致。除了口服皮质类固醇、肠外叶酸和维生素 B12 外，患者还多次输注红细胞和血小板。本病例强调了在鉴别诊断中考虑埃文斯综合征的重要性，及时治疗可使患者获得更好的预后。患者出院时获得了以下处方：注射用溴氢可的松、叶酸片和 Cap Opt-D。并嘱咐患者到医院门诊部就诊。本病例报告突显了埃文斯综合征在巴基斯坦的未知领域。

引用次数: 0

Colon cancer disguised as intussusception in a young adult: A case report 伪装成肠套叠的年轻成人结肠癌：病例报告

Medical Reports

Pub Date : 2024-10-15 DOI: 10.1016/j.hmedic.2024.100119

Anthony El Dada , Yara El Ratel , Mandy El Khoury , Karam Karam , Mahmoud Othman

Background

Intussusception is exceedingly rare in adults and is often unthought off as a differential diagnosis for abdominal pain. Here, we describe the case of intussusception in a young female unveiling colon adenocarcinoma.

Case presentation

A 36-year-old female, previously healthy, presented for abdominal pain and bloody diarrhea of 2 days duration. The patient was initially treated for Amebiasis. She sought medical care the next day with tenesmus and lancinating abdominal pain, leading to hospitalization for further work-up. Computed tomography (CT) scan revealed an obstruction of the large bowel with dilation of the transverse colon reaching 6 cm. The obstruction was caused by a collapsed, intussuscepted descending colon, with mesenteric fat and vessels telescoped into its lumen along with a 3.7 cm wall thickening. She was scheduled for surgical repair.

Conclusion

A well-timed CT scan is necessary for favorable patient outcomes. Due to their rare occurrence in young adults, intussusception and colon cancer, could potentially go undiagnosed.

背景肠套叠在成人中极为罕见，通常不被认为是腹痛的鉴别诊断之一。在此，我们描述了一例年轻女性肠套叠病例，揭开了结肠腺癌的神秘面纱。病例介绍一名 36 岁女性，之前身体健康，因腹痛和持续两天的血性腹泻就诊。患者最初因阿米巴病接受治疗。第二天，她因排便困难和腹痛而就医，住院接受进一步检查。计算机断层扫描（CT）显示大肠梗阻，横结肠扩张达 6 厘米。梗阻的原因是降结肠塌陷、肠套叠，肠系膜脂肪和血管伸入肠腔，肠壁增厚 3.7 厘米。她被安排进行手术修补。由于肠套叠和结肠癌罕见于青壮年，因此有可能得不到诊断。

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引用次数: 0

Diffuse alveolar haemorrhage as an initial presenting manifestation of juvenile systemic lupus erythematosus 弥漫性肺泡出血是幼年系统性红斑狼疮的初始表现

Medical Reports

Pub Date : 2024-10-15 DOI: 10.1016/j.hmedic.2024.100120

Ishwarya Ramadoss , Arul Rajamurugan Ponniah Subramanian, Ramesh R

A fifteen year old female child presented with three weeks history of fever and joint pains. On evaluation, infections were ruled out and a diagnosis of systemic lupus erythematosus with involvement of domains of musculoskeletal, constitutional, haematological and probable lupus nephritis was made. During period of evaluation, she developed diffuse alveolar haemorrhage(DAH) and was managed with methylprednisolone pulse therapy, intravenous immunoglobulin and plasma exchange along with cyclophosphamide. The case report discusses the challenges faced in suspecting, diagnosing and treating DAH, with a propitious outcome.

一名 15 岁的女婴因发烧和关节疼痛就诊三周。经检查，排除了感染的可能，诊断为系统性红斑狼疮，累及肌肉骨骼、体质、血液学等多个领域，可能还伴有狼疮性肾炎。在评估期间，她出现了弥漫性肺泡出血（DAH），并接受了甲基强的松龙脉冲疗法、静脉注射免疫球蛋白和血浆置换以及环磷酰胺治疗。该病例报告讨论了在怀疑、诊断和治疗 DAH 时所面临的挑战，并取得了良好的疗效。

引用次数: 0

Seeding of glioblastoma multiforme in the fourth ventricle leading to bilateral internuclear ophthalmoplegia: A case report 第四脑室多形性胶质母细胞瘤播种导致双侧核内性眼瘫：病例报告

Medical Reports

Pub Date : 2024-10-11 DOI: 10.1016/j.hmedic.2024.100118

Mahzareen, Saba Zaidi, Muhammad Mubashir

Internuclear ophthalmoplegia (INO) is an infrequent disorder impacting conjugate lateral gaze. It is typically observed in neurological conditions like multiple sclerosis and stroke, but it is rarely linked to brain tumors. This report describes a case where INO developed in a patient with a high grade astrocytoma. A 42-year-old man presented with a one-week history of worsening horizontal double vision. Examination revealed impaired adduction and horizontal nystagmus without additional focal neurological deficits or papilledema. MRI imaging of the brain with contrast revealed a large, heterogeneous mass in the left frontal lobe along with ring-enhancing lesions in the fourth ventricle, suggesting tumor progression. The patient had previously undergone a gross total resection of a Grade-4 astrocytoma, followed by radiation therapy and Temozolomide treatment. In response to the new onset of INO, his treatment regimen was adjusted to continue Temozolomide and include steroids. This case underscores the importance of recognizing new ophthalmologic findings as a potential indicator of tumor progression in high-grade astrocytomas, highlighting the need for careful monitoring and treatment modification.

核内眼球震颤（INO）是一种影响共轭侧视的罕见疾病。它通常出现在多发性硬化症和中风等神经系统疾病中，但很少与脑肿瘤有关。本报告描述了一个患有高级别星形细胞瘤的患者出现 INO 的病例。一名 42 岁的男子因水平复视恶化一周前来就诊。检查发现他的内收和水平眼球震颤受损，但没有其他局灶性神经功能缺损或乳头水肿。脑部核磁共振成像造影显示，左侧额叶有一个巨大的异质肿块，第四脑室有环形强化病变，提示肿瘤进展。患者曾接受过 4 级星形细胞瘤的全切除术，随后接受了放疗和替莫唑胺治疗。针对新出现的 INO，他调整了治疗方案，继续使用替莫唑胺，并加入了类固醇。本病例强调了将新的眼科检查结果作为高级别星形细胞瘤肿瘤进展的潜在指标的重要性，突出了仔细监测和调整治疗方案的必要性。

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