clinical case

临床病例
  • 文章类型: Case Reports
    免疫性血小板减少症(ITP)的特征是孤立性血小板减少症,表现为粘膜皮肤出血症状。一般是轻度到中度。严重症状或并发症的存在很少见,但可能危及生命,应及时诊断和治疗。我们介绍了一名14岁的女性,表现为腹部压痛和腹膜刺激的迹象,并发现颊粘膜出现斑疹,很少的瘀点,体格检查时胳膊和腿浅表瘀斑。实验室评估显示严重的血小板减少症和正常细胞性贫血。腹部超声显示有明显的腹腔积血。诊断为ITP合并自发性腹膜出血,她接受了静脉注射免疫球蛋白(IVIG)和抗生素治疗,以及在重新评估时由于贫血恶化而输注的红细胞。观察到血小板计数和血红蛋白逐渐升高,以及腹膜出血的逐渐消退,没有进一步的治疗。
    Immune thrombocytopenia (ITP) is characterized by isolated thrombocytopenia manifesting with mucocutaneous bleeding symptoms, generally mild to moderate. The presence of severe symptoms or complications is rare but can be life-threatening and should be promptly diagnosed and treated. We present the case of a 14-year-old female presenting with abdominal tenderness and signs of peritoneal irritation and found to exhibit petechial rash in the buccal mucosa, scant petechiae, and superficial ecchymosis in both arms and legs on physical examination. Laboratory evaluation revealed severe thrombocytopenia and normocytic anemia. Abdominal ultrasound showed a significant peritoneal hematic effusion. The diagnosis of ITP with spontaneous peritoneal hemorrhage was made, and she was treated with intravenous immunoglobulin (IVIG) and antibiotic therapy, as well as one packed red blood cell transfusion because of worsened anemia on re-evaluation. A gradual rise in platelet count and hemoglobin was observed, as well as a gradual resolution of the peritoneal hemorrhage, with no further therapy.
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  • 文章类型: Case Reports
    斑秃(AA)一直被认为是一个具有挑战性的临床条件,皮肤科医生传统上使用皮质类固醇和免疫抑制剂来寻找有效的解决方案。Janus激酶抑制剂(JAKI)的引入,特别是食品和药物管理局(FDA)批准的巴利替尼,标志着AA治疗的重大突破。临床试验显示了巴利替尼的有希望的结果,最初成功后复发的报告很少。我们介绍了一例30岁男性,患有严重的斑贴型AA,最初对baricitinib治疗反应良好,但尽管继续治疗,但后来复发。
    Alopecia areata (AA) has long been considered a challenging clinical condition, with dermatologists traditionally employing corticosteroids and immunosuppressants in search of effective solutions. The introduction of Janus kinase inhibitors (JAKi), specifically the Food and Drug Administration (FDA) approval of baricitinib, marked a significant breakthrough in the treatment of AA. Clinical trials have shown promising results with baricitinib, and reports of relapse after initial success are scarce. We present a unique case of a 30-year-old male with severe patch-type AA who initially responded well to baricitinib treatment but later experienced a relapse despite continued treatment.
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  • 文章类型: Case Reports
    面毛萎缩角化病(KPAF)和额叶纤维化脱发(FFA)由于其相似的临床特征而提出了诊断挑战。皮肤科医生经常采用重叠的治疗方案,这可能会阻碍准确的诊断和治疗预期。基因检测为精确诊断和量身定制的治疗策略提供了希望,然而,它在这些条件下的效用仍未得到充分开发。这份手稿提供了一个独特的案例研究,一个36岁的男性,有KPAF和FFA的症状,接受基因检测的人.尽管这种突变检测呈阴性,该病例强调了基因检测在提高诊断准确性和优化治疗结果方面的潜力.
    Keratosis pilaris atrophicans faciei (KPAF) and frontal fibrosing alopecia (FFA) present diagnostic challenges due to their similar clinical characteristics. Dermatologists often employ overlapping treatment regimens, which may hinder accurate diagnosis and treatment expectations. Genetic testing offers promise for precise diagnosis and tailored treatment strategies, yet its utility in these conditions remains underexplored. This manuscript presents a unique case study of a 36-year-old male with symptoms of both KPAF and FFA, who underwent genetic testing. Despite testing negative for this mutation, the case underscores the potential of genetic testing to enhance diagnostic accuracy and optimize treatment outcomes.
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  • 文章类型: Journal Article
    Bronchial asthma and chronic polypous rhinosinusitis are diseases associated with a T2-inflammatory immune response. These nosologies can be combined, creating the preconditions for a more severe course of multimorbidity, requiring the use of genetic engineering biological therapy. Dupilumab is a monoclonal antibody that can specifically bind to the alpha subunit of the interleukin-4 receptor and block the action of interleukins 4 and 13, which play a key role in the development of T2 inflammation. Numerous studies have demonstrated the high effectiveness of this medicament. The use of dupilumab in some cases may be accompanied by an increase in eosinophils in the blood. This article presents scientific base and our own experience in treating patients with dupilumab-associated eosinophilia, in addition we describe an algorithm for examining this group of patients for the purpose of timely diagnosis of diseases such as eosinophilic granulomatosis with polyangiitis, eosinophilic pneumonia, etc. It should be noted that in the most cases eosinophilia during targeted therapy with dupilumab is temporary and does not cause clinical manifestations.
    Бронхиальная астма и хронический полипозный риносинусит являются заболеваниями, ассоциированными с Т2-воспалительным иммунным ответом. Данные нозологии могут носить сочетанный характер, создавая предпосылки для более тяжелого течения мультиморбидности, требующей применения генно-инженерной биологической терапии. Дупилумаб представляет собой моноклональное антитело, которое способно специфически связываться с a-субъединицей рецептора интерлейкина(ИЛ)-4 и блокировать действие ИЛ-4 и ИЛ-13, играющих ключевую роль в развитии Т2-воспаления. Многочисленные исследования продемонстрировали высокую эффективность данного лекарственного препарата. Иногда применение дупилумаба может сопровождаться повышением эозинофилов в крови. В статье представлены научный обзор и собственный опыт ведения пациентов с дупилумаб-ассоциированной эозинофилией, а также алгоритм обследования данной группы больных с целью своевременной диагностики таких заболеваний, как эозинофильный гранулематоз с полиангиитом, эозинофильная пневмония и др. Необходимо отметить, что чаще всего эозинофилия во время таргетной терапии дупилумабом носит временный характер и не вызывает клинических проявлений.
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  • 文章类型: Journal Article
    炭疽病仍然是个威胁,特别是在吉尔吉斯斯坦等畜牧业发达的国家。尽管采取了预防措施,每年都有零星爆发,从受感染的动物传播给人类。这里,我们报告了一个8个月大的孩子的严重炭疽病例,已知是在没有适当协议的情况下在附近屠宰一只生病的小牛时造成的,导致家庭内感染。这强调了快速诊断的重要性,治疗,预防措施,和对人畜共患感染的认识,动物疫苗接种和遵守卫生和兽医协议。
    Anthrax remains a threat, especially in countries like Kyrgyzstan with developed livestock farming. Despite preventive efforts, sporadic outbreaks endure on an annual basis, transmitted from infected animals to humans. Here, we report a severe anthrax case in an 8-month-old child known to be caused when a sick calf was slaughtered in the neighborhood without proper protocols, resulting in intra-family infection. This underscores the importance of swift diagnosis, treatment, preventive measures, and awareness of zoonotic infections, animal vaccination and adherence to sanitary and veterinary protocols.
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  • 文章类型: Journal Article
    The most common cause of severe cognitive impairment in adults is Alzheimer\'s disease (AD). Depending on the age of onset, AD is divided into early (<65 years) and late (≥65 years) forms. Early-onset AD (EOAD) is significantly less common than later-onset AD (LOAD) and accounts for only about 5-10% of cases. However, its medical and social significance, as a disease leading to loss of ability to work and legal capacity, as well as premature death in patients aged 40-64 years, is extremely high. Patients with EOAD compared with LOAD have a greater number of atypical clinical variants - 25% and 6-12.5%, respectively, which complicates the differential diagnosis of EOAD with other neurodegenerative diseases. However, the typical classical amnestic variant predominates in both EOAD and LOAD. Also, patients with EOAD have peculiarities according to neuroimaging data: when performing MRI of the brain, patients with EOAD often have more pronounced parietal atrophy and less pronounced hippocampal atrophy compared to patients with LOAD. The article pays attention to the features of the clinical and neuroimaging data in patients with EOAD; a case of a patient with EOAD is presented.
    Наиболее распространенной причиной выраженных когнитивных нарушений у взрослых является болезнь Альцгеймера (БА). В зависимости от возраста начала БА подразделяют на раннюю (<65 лет) и позднюю (≥65 лет) формы. БА с ранним началом (БАсРН) по частоте встречаемости значительно уступает более позднему дебюту заболевания и составляет всего около 5—10% случаев. Однако ее медико-социальная значимость как заболевания, приводящего к утрате трудоспособности и дееспособности, а также преждевременной смерти у пациентов в возрасте 40—64 лет, крайне высока. У пациентов с БАсРН по сравнению с БА с поздним началом (БАсПН) отмечается большее количество атипичных клинических вариантов — 25 и 6—12,5% соответственно, что усложняет дифференциальную диагностику БАсРН с другими нейродегенеративными заболеваниями. Тем не менее типичный амнестический вариант преобладает как при БАсПН, так и БАсРН. Также у пациентов с БАсРН наблюдаются особенности по данным нейровизуализации: при выполнении МРТ головного мозга у пациентов с БАсРН чаще отмечается более выраженная теменная атрофия и менее выраженная атрофия гиппокампа по сравнению с пациентами с БАсПН. В статье уделено внимание особенностям клинической и нейровизуализационной картины у пациентов с БАсРН; представлен клинический случай пациента с БАсРН.
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  • 文章类型: Journal Article
    从未报道过罕见的假丝酵母与人类感染有关。我们报告了C.saopaulonensis的第一个临床分离株的基因组序列草案,从患有败血症的早产儿中分离出来。这是该物种的第一个基因组组装达到接近完整的染色体水平,具有结构注释,为探索发病机制的进化模式和遗传机制开辟了途径。
    The rare fungus Candida saopaulonensis has never been reported to be associated with human infection. We report the draft genome sequence of the first clinical isolate of C. saopaulonensis, which was isolated from a very premature infant with sepsis. This is the first genome assembly reaching the near-complete chromosomal level with structural annotation for this species, opening up avenues for exploring evolutionary patterns and genetic mechanisms of pathogenesis.
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  • 文章类型: Journal Article
    棘阿米巴感染与人类角膜炎有关;然而,其与犬角膜炎的关系尚不清楚.为了调查这种可能性,我们在忠北国立大学兽医教学医院从患有与眼睛有关的疾病(65例角膜炎和106例无角膜炎)的狗中收集了171个结膜拭子样本,韩国,从2021年8月到2022年9月。聚合酶链反应鉴定9个样本(5.3%)为棘阿米巴阳性;其中,3来自患有角膜炎的狗(4.6%),6来自没有角膜炎的狗(5.7%)。我们的结果表明棘阿米巴感染与角膜炎之间没有显着关联,季节,性别,或年龄。根据18S核糖体RNA分析,本研究中发现的所有棘阿米巴生物均具有T4基因型。犬的棘阿米巴感染可能与角膜炎仅有有限的关联。
    Acanthamoeba infection is associated with keratitis in humans; however, its association with keratitis in dogs remains unclear. To investigate this possibility, we collected 171 conjunctival swab samples from dogs with eye-related diseases (65 with keratitis and 106 without keratitis) at Chungbuk National University Veterinary Teaching Hospital, Korea, from August 2021 to September 2022. Polymerase chain reaction identified 9 samples (5.3%) as Acanthamoeba positive; of these, 3 were from dogs with keratitis (4.6%) and 6 were from dogs without keratitis (5.7%). Our results indicated no significant association between Acanthamoeba infection and keratitis, season, sex, or age. All Acanthamoeba organisms found in this study had the genotype T4, according to 18S ribosomal RNA analysis. Acanthamoeba infection in dogs might have only a limited association with keratitis.
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  • 文章类型: Case Reports
    我们介绍了一例50岁女性的临床病例,最初怀疑患有脂溢性角化病,但后来通过活检诊断为黑色素瘤。这个案例突出了区分这两种情况的挑战,并强调了准确诊断的重要性。讨论了脂溢性角化病中恶性肿瘤的过度诊断以及通过皮肤镜检查对黑色素瘤的准确识别。需要进一步的研究来探索脂溢性角化病和黑色素瘤之间的潜在机制联系。
    We present a clinical case of a 50-year-old female initially suspected of seborrheic keratosis but later diagnosed with melanoma through biopsy. This case highlights the challenges in distinguishing between these two conditions and emphasizes the importance of accurate diagnosis. Overdiagnosis of malignancy in seborrheic keratosis cases and the accurate identification of melanoma through dermoscopy are discussed. Further research is needed to explore potential mechanistic connections between seborrheic keratosis and melanoma.
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  • 文章类型: Journal Article
    蜱传脑炎仅限于意大利东北部。我们在伦巴第报道,西北部一个人口众多的地区,一种表现出有多个病毒阳性蜱的蜱传脑炎病毒临床症状的羚羊,以及一个有症状的人。Further,我们显示了该地区病毒循环的血清学证据。
    Tick-borne encephalitis was limited to northeast portions of Italy. We report in Lombardy, a populous region in the northwest, a chamois displaying clinical signs of tickborne encephalitis virus that had multiple virus-positive ticks attached, as well as a symptomatic man. Further, we show serologic evidence of viral circulation in the area.
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