Clinical characteristic

临床特点
  • 文章类型: Journal Article
    人泡型包虫病(HAE),由多房棘球蚴的稳定期引起,在过去的二十年中,许多欧洲国家都出现了。这里,我们报告了克罗地亚中部发病率增加的新HAE重点的第一批数据,描述其在确诊患者中的临床表现和结果,并提供赤狐中多房棘球蚴的患病率和地理分布的最新信息。在2017年东部州边界的首例病例之后,从2019年到2022年,诊断出5例新的本土HAE病例,全部集中在Bjelovar-Bilogora县(2019年和2021年该县发病率:0.98/105,2022年:2.94/105/年;2019-2022年患病率:4.91/105).四名女性和两名男性患者的年龄范围为37-67岁。患者肝脏病变大小从3.1到15.5cm不等(分类范围:P2N0M0-P4N1M0),一名患者肺部播散。虽然没有死亡,1例患者术后并发症导致肝移植。2018年,红狐狸的总体患病率为11.24%(28/249)。克罗地亚中部大陆出现了对HAE的新关注,在欧洲地区发病率最高。有必要在居民中进行筛查项目,并按照“一个健康”方法实施兽医预防措施。
    Human alveolar echinococcosis (HAE), caused by the metacestode stage of Echinococcus multilocularis, has emerged in many European countries over the last two decades. Here, we report the first data on the new HAE focus with increasing incidence in central Croatia, describe its clinical presentation and outcomes in diagnosed patients, and provide an update on the prevalence and geographic distribution of Echinococcus multilocuaris in red foxes. After the initial case in 2017 from the eastern state border, from 2019 to 2022, five new autochthonous HAE cases were diagnosed, all concentrated in the Bjelovar-Bilogora County (the county incidence in 2019 and 2021: 0.98/105, in 2022: 2.94/105/year; prevalence for 2019-2022: 4.91/105). The age range among four female and two male patients was 37-67 years. The patients\' liver lesions varied in size from 3.1 to 15.5 cm (classification range: P2N0M0-P4N1M0), and one patient had dissemination to the lungs. While there were no fatalities, postoperative complications in one patient resulted in liver transplantation. In 2018, the overall prevalence of red foxes was 11.24% (28/249). A new focus on HAE has emerged in central continental Croatia, with the highest regional incidence in Europe. Screening projects among residents and the implementation of veterinary preventive measures following the One Health approach are warranted.
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  • 文章类型: Case Reports
    内脏利什曼病是免疫功能低下患者的机会性感染。在这里,我们报告了一例成年男性患者,患有不明原因的持续发烧,伴随慢性乙型肝炎患者接受了两次骨髓穿刺,显示了吞噬作用。腹部增强CT提示脾肿大,多发结节持续强化,血管瘤被诊断出来.随后的18-氟-脱氧葡萄糖(18F-FDG)PET/CT扫描,这是为了寻找发烧的原因,显示弥漫性脾疾病摄取,诊断为脾淋巴瘤。在接受噬血细胞性淋巴组织细胞增生症(HLH)化疗后,他的临床症状有所改善。然而,仅2个月后,患者再次因发烧入院。进行脾切除术以确认淋巴瘤的诊断和分类。最终在脾脏标本和第三次骨髓活检中诊断出内脏利什曼病。他接受脂质两性霉素B治疗,并保持1年无复发。在本文中,我们旨在提供详细的信息,以帮助我们进一步了解内脏利什曼病的临床症状和影像学表现。
    Visceral leishmaniasis is an opportunistic infection in immunocompromised patients. Herein, we report a case of an adult male patient with a persistent fever of unknown origin, along with chronic hepatitis B. The patient underwent bone marrow aspiration twice, which revealed hemophagocytosis. Abdomen enhanced CT revealed splenomegaly with a persistent strengthening of multiple nodules, and hemangiomas were diagnosed. A subsequent 18-fluoro-deoxyglucose (18F-FDG) PET/CT scan, which was implemented to search for the reason for the fever, showed diffuse splenic disease uptake, and splenic lymphoma was considered as the diagnosis. His clinical symptoms improved after receiving hemophagocytic lymphohistiocytosis (HLH) chemotherapy. However, the patient was readmitted for fever again only 2 months later. Splenectomy surgery is performed to confirm the diagnosis and classification of lymphoma. Visceral leishmaniasis was eventually diagnosed in a spleen specimen and the third bone marrow biopsy. He received treatment with lipid amphotericin B and remained recurrence-free for 1 year. In this paper, we aim to provide detailed information that will help further our understanding of the clinical symptoms and radiographic findings of visceral leishmaniasis.
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  • 文章类型: Case Reports
    BCL6协同抑制因子细胞周期蛋白B3(BCOR-CCNB3)融合肉瘤在2020年被归类为未分化小圆细胞肉瘤的新兴亚组。据报道,在未分化的未分类肉瘤中,BCOR-CCNB3融合肉瘤的发生率为1.5-14%。代表原发性恶性骨肿瘤中的罕见实体。本研究报告一例男孩胫骨近端BCOR-CCNB3融合肉瘤。一个12岁的男孩,有6个月的膝盖疼痛史,左胫骨近端前内侧肿块缓慢增长。膝关节的X线平片和计算机断层扫描显示出溶解性病变,胫骨近端皮质破坏。磁共振成像显示,骨肿瘤在T1加权成像上扩张成软组织,几乎均匀的低张力,而在T2加权成像上则略微高强度。关于组织病理学评估,肿瘤包括小的增殖,无类骨质形成的圆形至卵形间充质细胞。组织病理学,BCOR-CCNB3骨肉瘤最终根据免疫组织化学染色和其他分子分析诊断。患者接受了骨肿瘤切除术,然后根据尤文肉瘤方案进行了术前和术后化疗。患者在完成辅助化疗后12个月没有出现局部复发或远处转移的迹象。我们在此介绍另一例胫骨近端BCOR-CCNB3肉瘤,并对BCOR-CCNB3骨肉瘤的相关文献进行综述。
    BCL6 corepressor-cyclin B3 (BCOR-CCNB3) fusion sarcoma was classified as an emerging subgroup of undifferentiated small round cell sarcoma in 2020. The incidence of BCOR-CCNB3 fusion sarcoma is reportedly 1.5-14% among undifferentiated unclassified sarcomas, representing a rare entity among primary malignant bone tumors. The present study reports a case of BCOR-CCNB3 fusion sarcoma in the proximal tibia of a boy. A 12-year-old boy presented with a 6-month history of knee pain and a slowly growing mass in the anteromedial aspect of the left proximal tibia. Plain radiography and computed tomography of the knee demonstrated a lytic lesion with cortical destruction of the proximal tibia. Magnetic resonance imaging showed the bone tumor expanding into soft tissue with almost homogeneous hypointensity on T1-weighted imaging and slightly hyperintensity on T2-weighted imaging. On histopathological evaluation, the tumor comprised a proliferation of small, round to ovoid-shaped mesenchymal cells without osteoid formation. Histopathologically, BCOR-CCNB3 sarcoma of bone was finally diagnosed based on immunohistochemical staining and additional molecular analyses. The patient underwent bone tumor resection followed by pre- and post-operative chemotherapy according to a Ewing sarcoma protocol. The patient showed no evidence of local recurrence or distant metastasis at 12 months after completion of adjuvant chemotherapy. We present herein an additional case of BCOR-CCNB3 sarcoma of the proximal tibia, and review the relevant literature on BCOR-CCNB3 sarcoma of bone.
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  • 文章类型: Case Reports
    18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.
    Here, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype-phenotype relationship and their therapeutic response to rhGH.
    A 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57-316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from -3.02 SDS to -0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from -3.12 ± 0.94 SDS to -1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).
    The main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.
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  • 文章类型: Journal Article
    BACKGROUND: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited.
    METHODS: One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized.
    RESULTS: One 11.5-year-old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. Her height was 126.9 cm (-3.45 SDS). Karyotype analysis showed 46, XX, r (15). WES revealed a 4.5 Mb heterozygous deletion in the chromosome 15q26.2-q26.3 region, encompassing genes from ARRDC4 to OR4F15. Gonadotrophin-releasing hormone analogue (triptorelin) and rhGH were administered for 6 months. The height has increased 3.8 cm (+0.2SDS) and the calculated growth rate has improved from 4.7 to 7.6 cm/y. The literature review indicated the main clinical manifestations of r (15) syndrome with prenatal and postnatal growth retardation, characteristic craniofacial features, and multisystem abnormalities, and rhGH treatment is beneficial for r (15) syndrome patients with short stature.
    CONCLUSIONS: We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is beneficial for r (15) syndrome patients with short stature.
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  • 文章类型: Case Reports
    睾丸和睾丸的原发性粘液性肿瘤非常罕见,在PubMed搜索中只检测到29例报告病例。原发性睾丸黏液性肿瘤的组织病理学特征与卵巢相似,诊断和命名标准参考女性卵巢粘液性肿瘤的标准。然而,原发性睾丸粘液性肿瘤的临床和影像学特征知之甚少,因此,他们经常得不到诊断或误诊。我们介绍了一名原发性睾丸粘液性肿瘤患者的病例。一名52岁的男子,有1年的左阴囊无痛肿大史。超声检查发现左侧睾丸有囊性肿块,有粘稠的液体区域和钙化点,囊肿壁上有不规则的实体凸起,和少量的血液供应。血清甲胎蛋白,β-人绒毛膜促性腺激素,乳酸脱氢酶,肾功能,炎症标志物,尿常规、血常规检查均正常。患者接受左睾丸根治性切除术。术后病理显示为多房性囊性肿块,囊的内壁衬有粘液柱状上皮细胞,一些患有轻度核非典型性,没有间质浸润.病理诊断为睾丸黏液性肿瘤。术后腹部和盆腔计算机断层扫描,结肠镜检查,胃镜检查未见可疑病变。最终诊断为原发性睾丸交界性粘液性肿瘤。患者每年接受一次术后随访检查,为期4年。血清肿瘤标志物,阴囊超声,腹部和盆腔计算机断层扫描,结肠镜和胃镜检查未发现转移或其他原发性腺癌的证据。此病例突出了原发性睾丸黏液性肿瘤的临床和影像学特点,这可能有助于他们的鉴别诊断。
    Primary mucinous tumors of the testis and paratestis are very rare, with only 29 reported cases detected in a PubMed search. The histopathological characteristics of primary testicular mucinous tumors are similar to their ovarian counterparts, and the diagnosis and naming criteria refer to the criteria for female ovarian mucinous tumors. However, the clinical and imaging features of primary testicular mucinous tumors are poorly understood, and they are thus frequently undiagnosed or misdiagnosed. We present the case of a patient with a primary testicular mucinous tumor. A 52-year-old man presented with a 1-year history of painless enlargement of the left scrotum. Ultrasound examination revealed a cystic mass in the left testis, with viscous fluid areas and calcified spots, irregular solid bulges on the cyst wall, and a small blood supply. Serum alpha-fetoprotein, β-human chorionic gonadotropin, lactate dehydrogenase, renal function, inflammatory markers, and routine urine and blood examinations were all normal. The patient underwent radical resection of the left testis. Postoperative pathology showed a multilocular cystic mass, with the inner wall of the sac lined with mucous columnar epithelial cells, some with mild nuclear atypia, and no interstitial infiltration. The pathological diagnosis was testicular mucinous tumor. Postoperative abdominal and pelvic computed tomography, colonoscopy, and gastroscopy showed no suspicious lesions. The final diagnosis was primary testicular borderline mucinous tumor. The patient underwent postoperative follow-up examinations once a year for 4 years. Serum tumor markers, scrotal ultrasound, abdominal and pelvic computed tomography scans, and colonoscopy and gastroscopy revealed no evidence of metastases or other primary adenocarcinoma. This case highlights the clinical and imaging characteristics of primary testicular mucinous tumors, which might aid their differential diagnosis.
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  • 文章类型: Journal Article
    Since its outbreak in Wuhan, Hubei Province China, 2019-coronavirus infected disease (COVID-19) had been widely spread all over the world, the control of which calls for a better understanding of its epidemiology and clinical characteristics. We included 12 confirmed cases of COVID-19 in First Affiliated Hospital of Jilin University from 23 January 2020 to 11 February 2020, which were retrospectively analyzed for epidemiological, demographic, clinical, laboratory, and radiological features. All the patients were confirmed by nucleic acid detection, the average age of whom was 45.25 years (range, 23-79 years). Most patients had a history of Wuhan traveling or had contact with Wuhan travelers or infected cases. Obvious family cluster was observed. Clinical manifestations included fever (12/12), fatigue (10/12), cough (6/12), sore throat (4/12), headache (3/12), and diarrhea (2/12). Only three out of eight patients had pneumonia manifestation on radiography. Most patients had a normal white blood cell (WBC) count and normal or reduced lymphocyte (LY) count. Pneumonia changes were observed in all the four patients who underwent a chest CT scan. Only one elderly patient developed severe pneumonia, while all the rest were mild disease and had a self-limiting course.
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  • 文章类型: Case Reports
    A lipoblastoma is an infrequent benign tumor derived from embryonal adipose tissue. There are few reports on kidney lipoblastomas; there are fewer than three cases, including our case. An 80-year-old female was detected to have a left renal mass during a routine medical examination. Computed tomography (CT) and magnetic resonance imaging (MRI) indicated a heterogeneous mass before surgery, and histopathological tests subsequently revealed that the mass was a rare lipoblastoma. We present this case as a reminder to consider lipoblastomas in the differential diagnoses of kidney masses.
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    文章类型: Case Reports
    Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon extranodal non-Hodgkin lymphoma, with an aggressive course with no well-defined treatment. This article describes a 56-year-old man, treated surgically 7 months earlier for a subcutaneous nodosity near the left axilla, presenting with a progressive inflamed wound, pain, and high fever (39 °C). Treatment with systemic antibiotics and topical anti-inflammatory dressings failed. After 7 months, the patient was diagnosed with SPTCL based on biopsy results and a multidisciplinary consultation. While undergoing systemic chemotherapy with corticosteroid therapy, his wound become more painful, larger, and covered with necrotic tissue. Fifty days after chemotherapy with corticosteroid therapy, his wound became seriously painful and increasingly necrotic. He developed a serious stomachache and abdominal distension, rapidly became comatose, and died. The aim of this case report is to present our experience of the different clinical signs of SPTCL to expedite its early diagnosis in future. We summarize the main clinical characteristics of SPTCL as a rapidly progressing and increasingly painful wound with necrotic tissue, involving a multisystem disorder, which is easily misdiagnosed, responds poorly to corticosteroid and chemotherapy treatments, and has a high mortality rate. The pathological characteristics are early inflammation, advancing to profuse infiltration of the subcutaneous adipose tissues by CD3(+) and/or CD8(+) T-cell lymphoma cells. Clinicians must cooperate with pathologists and oncologists to diagnose this disease as soon as possible and to avoid a misdiagnosis. The use of antibiotic and painkillers should minimize the patient\'s discomfort and control rapid wound development. Future studies are required to investigate the optimal wound treatment and whether the necrotic tissue should be removed.
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