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  • 文章类型: Case Reports
    淋巴浆细胞性淋巴瘤(LPL)是一种恶性增生的小淋巴细胞,淋巴细胞样细胞和影响骨髓的浆细胞,淋巴结和脾脏。其发病率为1/100,000,占所有淋巴瘤的8%。总共约5%的LPL患者可能分泌IgG的非IgM,IgA,κ或λ型或非分泌型。在本研究中,据报道,1例62岁女性患者被诊断为非IgM型LPL,其κ轻链单克隆副蛋白产生和血清免疫球蛋白水平正常.使用骨髓样品通过分子遗传分析检测MYD88L265P突变。患者接受了苯达莫司汀-利妥昔单抗联合治疗,后来,将依鲁替尼(布鲁顿激酶抑制剂)添加到治疗方案中。作者的目的是描述在大学医院“圣伊万·里尔斯基”研究和治愈的罕见类型的LPL病例,以及显示用于其诊断的方法及其适用性。解决了诊断此类罕见的LPL病例的困难,这些病例与明显的浆细胞分化和类似浆细胞瘤的IgA副蛋白分泌有关。从另一边,有利于LPL诊断的特征是浆细胞的免疫表型,以及MYD88L265P突变的存在。最后,报告了这种类型淋巴瘤的管理和治疗方法,强调布鲁顿TK抑制剂(依鲁替尼)治疗的有利效果。
    Lymphoplasmacytic lymphoma (LPL) is a malignant proliferation of small lymphocytes, lymphoplasmocytoid cells and plasmocytes affecting the bone marrow, lymph nodes and spleen. Its incidence is 1/100,000 and represents 8% of all lymphomas. A total of ~5% of patients with LPL may secrete non-IgM of IgG, IgA, kappa or lambda type or be non-secretory. In the present study, a case of a 62-year-old female patient who was diagnosed with non-IgM LPL with kappa light chain monoclonal paraprotein production and normal serum immunoglobulin levels was reported. The MYD88 L265P mutation was detected by molecular genetic analysis using a sample of the bone marrow. The patient underwent initial treatment with a combination of Bendamustine-Rituximab, and later on, Ibrutinib (a Bruton kinase inhibitor) was added to the treatment protocol. The authors\' aim was to describe a case of a rare type of LPL studied and cured at the University Hospital \'St. Ivan Rilski\', as well as to show the methods used for its diagnosis and their applicability. The difficulty in diagnosing such rare cases of LPL which are associated with marked plasmacytic differentiation and IgA paraprotein secretion resembling plasma cell neoplasia was addressed. From the other side, the characteristic features in favor of LPL diagnosis are the immunophenotype profile of plasmocytes, as well as the presence of MYD88 L265P mutation. Finally, the methods of management and treatment of this type of lymphoma were reported, highlighting the favorable effect of the treatment with Bruton TK inhibitor (Ibrutinib).
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  • 文章类型: Case Reports
    神经鞘瘤是一种良性神经鞘瘤,由周围神经鞘的雪旺细胞引起,病因不确定。它是包封良好且生长缓慢的肿瘤。大约25-48%的病例见于头颈部。口腔神经鞘瘤的发病率约为1%。舌基神经鞘瘤是一种罕见的实体。它可以影响所有年龄组,通常表现为无痛肿块。然而,当它长大超过3厘米时,它可能会产生吞咽困难,疼痛,或不适和声音质量的变化。因此,神经鞘瘤应被视为舌外生性肿块的鉴别诊断之一。我们报告了一例罕见的舌根神经鞘瘤,患有肿块的26岁男性,以及对过去64年发表的文献的回顾。
    Schwannoma is a benign nerve sheath tumor that arises from Schwann cells of the peripheral nerve sheath with uncertain etiology. It is well-encapsulated and a slow-growing tumor. Approximately 25-48% of cases are seen in the head and neck region. Schwannoma of the oral cavity has an approximate incidence of 1%. Tongue base Schwannoma is a rare entity. It can affect all age groups and typically presents as a painless lump. However, when it grows larger than 3 cm, it may produce dysphagia, pain, or discomfort and change in the quality of voice. Hence, Schwannoma should be considered as one of the differential diagnoses of exophytic mass of the tongue. We report a rare case of Schwannoma of the base of the tongue in a 26-year-old male who presented with a complaint of lump, along with a review of the literature published in the last 64 years.
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  • 文章类型: Case Reports
    脑膜瘤是一种由蛛网膜细胞引起的轴外肿瘤,通常是良性和缓慢生长的。原发性硬膜外脑膜瘤是指在硬膜下室之外出现的脑膜瘤,极为罕见(占脑膜瘤的0.3%)。
    方法:一名42岁的女性出现在她的初级卫生保健提供者面前,她有2年的左额头疼痛性肿块病史,并有11个月大的机动车事故导致的创伤性脑损伤和颅内血肿病史。超声报告皮脂腺囊肿可能。切除病灶送病理检查。诊断摘要报告了WHO1级异位左额脑膜瘤。
    颅外脑膜瘤分为两类:原发性颅外脑膜瘤和继发性颅外脑膜瘤。在女性人群中,头皮/皮肤上发现的颅外脑膜瘤中有88%是1级脑膜瘤。大多数颅外脑膜瘤是在组织学检查后诊断的,由于稀有。它们可以通过胚胎发育过程中蛛网膜细胞的截留以及由取代蛛网膜细胞的创伤性事件而产生。
    结论:作者认为患者PEM的病因是由于婴儿期创伤性脑损伤继发的蛛网膜胰岛细胞的截留。有趣的是,患者的症状开始于创伤后40年。这种罕见肿瘤的其他病例研究表明,创伤和诊断之间的时间较短。我们建议所有患者都应进行头皮肿块的影像学和组织学检查。
    UNASSIGNED: Meningiomas are an extra-axial tumour arising from arachnoid cells and are typically benign and slow growing. Primary extradural meningiomas refer to meningiomas that arise outside the subdural compartment and are extremely rare (0.3 % of meningiomas).
    METHODS: A 42-year-old female presented to her primary health care provider with a 2-year history of a painful mass on her left forehead with a past medical history of a traumatic brain injury and intracranial hematoma from a motor vehicle accident when she was 11 months old. An ultrasound reported as likely sebaceous cyst. The lesion was resected and sent for pathological examination. The diagnostic summary reported an ectopic subgaleal left frontal meningioma WHO Grade 1.
    UNASSIGNED: Extracranial meningiomas have been divided into two classifications; primary extracranial meningiomas and secondary extracranial meningiomas. In the female population group 88 % of extracranial meningiomas found on the scalp/skin are grade 1 meningiomas. Most extracranial meningiomas are diagnosed after histology examination, due to the rarity. They can arise via entrapment of arachnoid cells during embryologic development and from traumatic events displacing arachnoid cells.
    CONCLUSIONS: The authors suggest that the patient\'s aetiology of her PEM is from the entrapment of arachnoid islet cells secondary to her traumatic brain injury during infancy. Interestingly, the patients\' symptoms began 40 years post trauma. Other case studies of this rare tumour have correlated a shorter time period between the trauma and the diagnosis. We suggest that all patients should have radiographic and histologic investigations of scalp masses.
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  • 文章类型: Case Reports
    局限性硬皮病是一种结缔组织疾病,可导致过多的胶原蛋白沉积和皮肤纤维化。它可以细分为硬皮病和线性硬皮病。Encoupdesabre(ECDS)是一种罕见的线性硬皮病,通常在儿童中发现。除了叶酸补充剂外,通常还使用甲氨蝶呤和皮质疗法进行治疗。迄今为止,据报道,很少有口腔受累的ECDS病例.此病例报告讨论了一名患有线性硬皮病ECDS的7岁女孩,她被转诊到牙科诊所评估口腔底部的肌肉肥大。在临床和影像学检查中,病人的舌骨肌萎缩,患侧牙槽骨高度降低,以及受影响一侧的中线偏离。此外,患者被归类为患龋风险高.在与主治医生就治疗方式和选择进行协商后,患者在利雅得费萨尔国王专科医院和研究中心的牙科部门完成了全面的牙科治疗,沙特阿拉伯。
    Localized scleroderma is a connective tissue disorder that causes excessive collagen deposition and skin fibrosis. It can be subdivided into morphea and linear scleroderma. En coup de sabre (ECDS) is a rare variant of linear scleroderma typically found among children. It is usually treated with methotrexate and corticotherapy in addition to folic acid supplements. To date, few cases of ECDS have been reported with oral involvement. This case report discusses a seven-year-old girl with linear scleroderma ECDS who was referred to the dental clinic to evaluate muscular hypotrophy on the floor of the mouth. Upon clinical and radiographic examination, the patient had hypotrophied mylohyoid muscle, reduced alveolar bone height on the affected side, and a deviated midline to the affected side as well. Furthermore, the patient was classified as having a high caries risk. After consultation with the primary physician regarding treatment modalities and options, the patient completed her comprehensive dental treatment at the Dental Department at King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia.
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  • 文章类型: Case Reports
    Takayasu动脉炎(TAK)是一种病因不明的罕见大血管血管炎,可导致动脉壁增厚,狭窄,和遮挡,这可能使脑血管缺血事件复杂化。缺血性卒中是TAK年轻时的潜在毁灭性并发症,但这种情况在埃塞俄比亚仍然很少报道。虽然它发生在病情的后期,这可能是最初的表现,提示预后不良.在这里,我们处理了一个25岁的妇女,她在中风2年后随访期间到大学医院就诊,临床症状恶化,肱动脉搏动缺失,和双臂无法记录的血压。在2021年入院时,对比脑计算机断层扫描显示右侧大脑中动脉区域缺血性梗塞。然而,由于临床表现的模糊性和临床医生无法将TAK纳入鉴别诊断,当时无法确定中风的病因,导致病例的早期诊断延迟。两年后,2023年,她接受了计算机断层扫描血管造影,并根据美国风湿病学会的标准被诊断出患有TAK,NumanoIIb型血管造影疾病范围,缺血性卒中,和II期全身性高血压。该患者由专家治疗。该病例强调,在没有传统危险因素的情况下,年轻患者中风的鉴别诊断需要考虑TAK;应进行适当的检查以确认或排除这种诊断。和管理应该相应地修改。
    Takayasu arteritis (TAK) is a rare large-vessel vasculitis of unknown etiology that leads to arterial wall thickening, stenosis, and occlusion, which may complicate cerebrovascular ischemic events. Ischemic stroke is a potentially devastating complication of TAK at a young age, but the occurrence is still rarely reported in Ethiopia. Although it occurs late in the course of the condition, it may be the initial presentation and suggest an unfavorable prognosis. Herein, we address the case of a 25-year-old woman who presented to a university hospital while on follow-up after 2 years of stroke with deterioration in clinical symptoms, absent brachial artery pulses, and unrecordable blood pressure in both arms. At the time of admission in 2021, the contrast brain computed tomography scan revealed an ischemic infarction in the right middle cerebral artery territory. However, the etiology of the stroke could not be defined at that time due to ambiguity in the clinical picture and the inability of clinicians to incorporate TAK into the differential diagnosis, resulting in a delay in the early diagnosis of the case. Two years later, in 2023, she underwent computed tomography angiography and was diagnosed to have TAK based on American College of Rheumatology criteria, with Numano type IIb angiographic extent of disease, ischemic stroke, and stage II systemic hypertension. The patient was treated by a field of experts. This case highlights the need to consider TAK in the differential diagnosis of stroke in young patients in the absence of traditional risk factors; appropriate tests should be performed to confirm or rule out this diagnosis, and management should be modified accordingly.
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  • 文章类型: Journal Article
    一名23岁女性患者出现神经根性背痛,会阴麻木,和尿潴留。该患者被诊断为马尾神经综合征,脊柱磁共振成像(MRI)显示骨腰椎病变增强,导致严重的中央性狭窄。腰椎的芯针活检显示出与小的圆形蓝色细胞肿瘤相容的微观特征。CD99和FLI1在肿瘤细胞中呈阳性。下一代测序证明了EWSR1::FLI1融合。鉴于这些发现,脊柱病变被诊断为尤文肉瘤。患者接受L2手术减压。在进一步的工作中,MRI显示右股骨远端增强肿块不明确.这个区域做了活检,显示纤维骨病变,成骨细胞增殖包含核异型,低有丝分裂活性,和SATB2阳性,诊断为低级别中央骨肉瘤(LGCOS)。病人接受了切除手术,通过组织形态学显示了经典的LGCOS。尽管MDM2基因扩增的荧光原位杂交研究为阴性,总体结果与LGCOS最为一致.由于每个实体在6个月内出现,这些肿瘤被认为是同步的。考虑到尤因肉瘤(每年约1例/750000)和LGCOS(每年约1例/1000万)的年总发病率,在单个个体中发展这两种遗传无关肿瘤的总每年概率为1/7.5万亿,这样的事件很可能在过去从未发生过。
    A 23-year-old female patient presented with radicular back pain, perineal numbness, and urinary retention. The patient was diagnosed with cauda equina syndrome and magnetic resonance imaging (MRI) of the spine revealed an enhancing osseous lumbar lesion causing severe central stenosis. A core needle biopsy of the lumbar spine showed microscopic features compatible with a small round blue cell tumor. CD99 and FLI1 were positive in the tumor cells. Next-generation sequencing demonstrated a EWSR1::FLI1 fusion. Given these findings, the spine lesion was diagnosed as Ewing sarcoma. The patient underwent surgical decompression of L2. On further workup, an MRI revealed an ill-defined enhancing mass of the right distal femur. This area was biopsied, demonstrating a fibro-osseous lesion with osteoblast proliferation containing nuclear atypia, low mitotic activity, and SATB2 positivity, diagnosed as low-grade central osteosarcoma (LGCOS). The patient underwent resection, which showed a classic LGCOS by histomorphology. Although fluorescence in-situ hybridization study for MDM2 gene amplification was negative, the overall findings are most consistent with LGCOS. These neoplasms are considered to be synchronous due to the presentation of each entity within 6 months. Considering the aggregate yearly incidence of Ewing sarcoma (approximately 1 case per 750 000 per year) and LGCOS (approximately 1 case per 10 million per year), the aggregate yearly probability of developing both of these genetically unrelated tumors in a single individual is 1 per 7.5 trillion per year, and it is likely such an event has never happened in the past.
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  • 文章类型: Case Reports
    鞘膜积液,以阴道膜中的液体积聚为特征,是一种常见的良性阴囊疾病。虽然不寻常,鞘膜积液可导致罕见的并发症,如感染或结石。一名60岁的男子有2个月的左侧阴囊肿胀和不适的病史。体格检查和超声波显示,具有高回声图像的非瞬态肿胀。对伴有继发性结石的阴囊积液进行了临时诊断,并进行了手术探查。术中,一个小的流体集合,发现了坚硬的石头。在结石中鉴定出胆固醇晶体。鞘膜积液中的阴囊结石很少见,据信是由于停滞的液体为胆固醇晶体形成创造了理想的环境。超声对诊断至关重要,在液体集合中发现高回声结石。手术探查,液体抽吸,取石是标准的治疗方法,通常通过阴囊小切口进行,成功率很高。
    Hydrocele, characterized by fluid accumulation in the tunica vaginalis, is a common benign scrotal condition. While unusual, hydrocele can lead to rare complications such as infection or lithiasis. A 60-year-old man presented with a 2-month history of left-sided scrotal swelling and discomfort. Physical examination and ultrasound revealed a large, nontransilluminant swelling with hyperechoic images. A provisional diagnosis of scrotal hydrocele with secondary lithiasis was made, and surgical exploration was performed. Intraoperatively, a fluid collection with small, hard stones was found. Cholesterol crystals were identified in the stone. Scrotal lithiasis in hydrocele is rare and is believed to result from stagnant fluid creating an ideal environment for cholesterol crystal formation. Ultrasound is crucial for diagnosis, revealing hyperechoic stones within the fluid collection. Surgical exploration, aspiration of fluid, and stone removal are standard treatments, usually conducted through a small scrotal incision, with a high success rate.
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  • 文章类型: Case Reports
    Adamantinomatic颅咽管瘤是1级肿瘤,出现在鞍区/鞍上位置。尽管是1级肿瘤,有高复发和内分泌功能不全。颅咽管瘤中出现的恶性肿瘤极为罕见,预后不佳,目前在世界卫生组织第5版中枢神经系统分类中没有作为一个单独的实体。在这里,我们描述了一例金刚烷酸颅咽管瘤及其恶性对应物。恶性部分具有独特的组织形态学和基底细胞,具有假性腺结构和粘液样背景。它与腺样囊性癌极为相似。良性和恶性对应物均为β-连环蛋白和SOX-2阳性,提供由良性部分引起的恶性部分的证据。在颅咽管瘤中已经描述了诸如鳞状细胞癌和牙源性鬼细胞癌的肿瘤。该病例研究首次描述了腺样囊性癌样特征的这种独特形态。免疫组织化学排除了腺样囊性癌的可能性。
    Adamantinomatous craniopharyngioma is a grade 1 tumor that arises in a sellar/suprasellar location. Despite being a grade 1 tumor, there is high recurrence and endocrinal insufficiency. Malignancy arising in craniopharyngioma is extremely rare, has a dismal prognosis, and is currently not included as a separate entity in the World Health Organization Classification of Central Nervous System 5th edition. Here we describe a case of adamantinomatous craniopharyngioma and its malignant counterpart. The malignant part had unique histomorphology and basaloid cells with pseudoglandular architecture and a myxoid background. It bore a striking resemblance to adenoid cystic carcinoma. Both the benign and malignant counterparts were beta-catenin and SOX-2 positive, providing proof of the malignant part arising from the benign part. Tumors like squamous cell carcinoma and odontogenic ghost cell carcinoma have been described in cranipharyngioma. This case study is the first to describe this unique morphology of adenoid cystic carcinoma-like features. The possibility of adenoid cystic carcinoma was excluded by immunohistochemistry.
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  • 文章类型: Case Reports
    在人类中很少见感染流感链球菌,目前对感染的临床表现和药敏试验的研究还很有限。这里,我们从湖南省人民医院膀胱癌患者的尿液中分离出了流球菌,这是从尿液中分离出的第一例河豚。全自动微生物鉴定系统和基质辅助激光解吸/电离飞行时间质谱(MALDI-TOFMS)将该细菌鉴定为流感阴道球菌,置信水平为99.9%。VITEK-2Compact全自动微生物药敏分析系统表明,它对替加环素最敏感,万古霉素,quinupristin/dalfopristin,利奈唑胺,对红霉素有中度敏感性,左氧氟沙星,环丙沙星,氨苄西林/舒巴坦,还有四环素.此外,当与高水平庆大霉素和万古霉素联合使用时,它表现出协同作用,显示敏感性。然而,它对青霉素和呋喃的活性较差。据我们所知,这是第一个从膀胱癌患者的尿液中分离和鉴定流球菌的研究,并且系统回顾了其他报道的人的阴道球菌感染,为指导临床治疗和诊断感染的临床合理用药及相关致病机制研究提供了实验依据。同时,我们已经系统地审查了其他报告。
    Vagococcus fluvialis infection is rare in humans, and there is limited research on the clinical manifestations and antimicrobial susceptibility testing of Vagococcus fluvialis infection. Here, We isolated Vagococcus fluvialis from the urine samples of bladder cancer patients at Hunan Provincial People\'s Hospital, and it is the first reported case of Vagococcus fluvialis isolated from the urine. The fully automated microbial identification system and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) identified the bacterium as Vagococcus fluvialis with a confidence level of 99.9%. The VITEK-2Compact fully automated microbial susceptibility analysis system indicated that it was most sensitive to tigecycline, vancomycin, quinupristin/dalfopristin, linezolid, and showed moderate sensitivity to erythromycin, levofloxacin, ciprofloxacin, ampicillin/sulbactam, and tetracycline. Additionally, it exhibited synergy when combined with high-level gentamicin and vancomycin, showing sensitivity. However, it displayed poor activity against penicillin and furanth. According to our knowledge, this is the first study to isolate and identify Vagococcus fluvialis from the urine of bladder cancer patients and the systematically reviewed other reported Vagococcus infections on human, which provide an experimental basis for guiding the rational use of drugs in the clinical treatment and diagnose of Vagococcus fluvialis infection and related pathogenic mechanism research. Meanwhile, we have systematically reviewed other reported.
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  • 文章类型: Case Reports
    牙源性角化囊肿是牙源性起源的良性骨内病变,其特征在于其侵袭性。它通常存在于下颌后部区域,虽然它也可以在上颌骨找到,特别是在犬科地区。我们讨论了上颌窦中涉及27和28区域的OKC的独特示例。由于类似的临床症状,这种病变更容易被误认为是上颌窦的其他病变,如鼻窦炎或息肉。在另一边,这种良性疾病有可能发展为成釉细胞瘤或鳞状细胞癌。因此,良好的预后取决于早期识别,精确诊断,适当的治疗,和后续行动。
    Odontogenic keratocyst is a benign intraosseous lesion of odontogenic origin which is characterized by its aggressive nature. It is usually present in the mandibular posterior area, although it can also be found in the maxilla, particularly in the canine region. We discuss a unique example of OKC in the maxillary sinus involving the 27&28 region. Due to comparable clinical signs, this lesion is more prone to be mistaken for other lesions of the maxillary sinus, such as sinusitis or polyps. On the other side, this benign disease has the potential to develop into Ameloblastoma or squamous cell carcinoma. A favorable prognosis thus depends on early identification, precise diagnosis, appropriate treatment, and follow-ups.
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