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Mitral Valve Endocarditis in Patient Awaiting TAVI: A Case Report. 等待TAVI的二尖瓣心内膜炎1例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231160045
Faith Michael, Jamie Farrow, Anthony Main

Background: The current literature focuses on the risk of infective endocarditis (IE) following transcatheter aortic valve implantation (TAVI). However, the risk of IE in patients waiting for TAVI is not well-studied. We present a unique case of a patient waiting for TAVI with decompensated heart failure who was found to have a large mitral vegetation, and consider risk factors for the development of IE in this population.

Case description: We report the case of an 85-year-old male with severe aortic stenosis and recurrent small bowel angiodysplasias, requiring frequent blood transfusions and intravenous iron. He presented to a peripheral hospital in decompensated heart failure. Transfer was arranged to our center to expedite TAVI, under the premise that worsening aortic stenosis precipitated his decompensated state. Prior to TAVI, an echocardiogram was done, and demonstrated a 30 × 18 mm mass on the mitral valve with anterior leaflet perforation and severe mitral regurgitation. The findings were consistent with IE, and the TAVI was cancelled. Despite antibiotic therapy, the patient unfortunately deteriorated and palliative care was provided.

Conclusions: This case highlights the need for further research regarding the risk of IE in patients waiting for TAVI. Current literature focuses on the development and management of IE following TAVI. Clinicians must understand that TAVI candidates have multiple risk factors for IE, including valvular disease, age, and comorbidities. IE should be considered as a possible cause for decompensated heart failure in patients awaiting TAVI.

背景:目前的文献主要关注经导管主动脉瓣植入术(TAVI)后感染性心内膜炎(IE)的风险。然而,等待TAVI的患者发生IE的风险还没有得到很好的研究。我们提出了一个独特的病例,患者等待TAVI与失代偿性心力衰竭谁被发现有一个大二尖瓣植被,并考虑IE在这一人群发展的危险因素。病例描述:我们报告一例85岁男性严重主动脉狭窄和复发性小肠血管发育不全,需要频繁输血和静脉注射铁。他因失代偿性心力衰竭到周边医院就诊。在主动脉瓣狭窄恶化导致患者失代偿状态的前提下,安排转至我中心加速TAVI。在TAVI之前,超声心动图显示二尖瓣30 × 18 mm肿块,前小叶穿孔和严重的二尖瓣反流。结果与IE一致,TAVI被取消。尽管进行了抗生素治疗,但不幸的是,患者病情恶化,并提供了姑息治疗。结论:该病例强调需要进一步研究等待TAVI患者发生IE的风险。目前的文献主要集中在TAVI后IE的发展和管理。临床医生必须了解TAVI候选人有多种IE风险因素,包括瓣膜疾病、年龄和合并症。IE应被认为是等待TAVI患者失代偿性心力衰竭的可能原因。
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引用次数: 0
Successful Treatment of Irinotecan-Induced Muscle Twitching: A Case Report. 伊立替康致肌肉抽搐的成功治疗一例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476221150354
Yu-Ting Shun, Hsien-Yung Lai, Yi-Ting Chuang, Hsuen-Fu Lin

Irinotecan, a topoisomerase I inhibitor, is commonly used in the treatment of advanced colorectal cancer. Its adverse effects include delay diarrhea, severe myelosuppression, and cholinergic-like symptoms. Though 2 cases of irinotecan-induced muscle twitching were reported but the successful treatment of this adverse event still not shown. We present a 24-year-old female patient with advanced colorectal cancer received bevacizumab and FOLFIRI (irinotecan + calcium leucovorin + 5-fluorouracil) treatment. Her right pectoralis major muscle presented with involuntary muscle twitching during the infusion of irinotecan at the sixth cycle of chemotherapy. The muscle twitching was slowly dissipated about 4 hours after the halted of irinotecan infusion. Then lorazepam 2 mg iv was injected before administration of irinotecan in an attempt to prevent the muscle twitching in the seventh cycle of chemotherapy. The patient did not report further muscle twitching. After that, lorazepam was routine administered before each cycle of FOLFIRI regiment. No any muscle twitching was observed after the use of lorazepam. This case provides valuable insight that muscle twitching can occur as rare irinotecan-related adverse effect. Benzodiazepine agonists, such as lorazepam, is the potential treatment of choice.

伊立替康是一种拓扑异构酶I抑制剂,常用于治疗晚期结直肠癌。其不良反应包括迟发性腹泻、严重骨髓抑制和胆碱能样症状。虽然报告了2例伊立替康引起的肌肉抽搐,但仍未显示这种不良事件的成功治疗。我们报告了一位24岁的晚期结直肠癌女性患者接受了贝伐单抗和FOLFIRI(伊立替康+亚叶酸钙+ 5-氟尿嘧啶)治疗。患者于化疗第六个周期输注伊立替康时右胸大肌出现不随意肌抽搐。停止伊立替康输注约4小时后肌肉抽搐逐渐消失。在伊立替康给药前注射劳拉西泮2 mg iv,以防止第7周期化疗时出现肌肉抽搐。病人没有报告进一步的肌肉抽搐。之后,在每个FOLFIRI周期前常规给予劳拉西泮。使用劳拉西泮后未见肌肉抽搐。本病例提供了有价值的见解,肌肉抽搐可以发生罕见的伊立替康相关的不良反应。苯二氮卓类激动剂,如劳拉西泮,是潜在的治疗选择。
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引用次数: 1
Concurrent Dengue-Malaria Infection: The Importance of Acute Febrile Illness in Endemic Zones. 登革热-疟疾并发感染:流行地区急性发热性疾病的重要性。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476221144585
Orlando González-Macea, María Cristina Martínez-Ávila, Marien Pérez, Ingrid Tibocha Gordon, Bárbara Arroyo Salgado

Context: Acute febrile disease (AFI) in endemic tropical areas is a frequent reason for consulting the emergency services. Infection by 2 or more etiological agents may modify clinical and laboratory parameters, making diagnosis and treatment a challenge.

Case report: We report the case of a patient who came from Africa and consults in Colombia, with AFI with thrombocytopenia that was eventually diagnosed to have concurrent infection with Plasmodium falciparum malaria and dengue.

Conclusions: Dengue-malaria coinfection infection reports are scarce; it should be suspected in patients living or returning from areas where both diseases are endemic or during dengue outbreaks. This case serves as a reminder of this important condition that causes high morbidity and mortality if it is not early diagnosed and treated.

背景:急性发热病(AFI)在热带地区是一个常见的原因咨询紧急服务。2种或更多病原感染可能改变临床和实验室参数,使诊断和治疗成为挑战。病例报告:我们报告了一例来自非洲并在哥伦比亚咨询的患者,患有AFI伴血小板减少症,最终被诊断为同时感染恶性疟原虫疟疾和登革热。结论:登革热-疟疾合并感染报告较少;在居住或从这两种疾病流行地区或登革热暴发期间返回的患者中,应怀疑存在该病。这个病例提醒我们,如果不及早诊断和治疗,这种重要的疾病会导致高发病率和死亡率。
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引用次数: 1
Secondary Mediastinal Bleeding Caused by Parathyroid Adenocarcinoma: A Case Report. 甲状旁腺癌致继发性纵隔出血1例。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231190538
Hiep Hoang Phan, Cong Thanh Do, Luong Ngoc Tran, Son Giang Nguyen, Diep Ngoc Tran, Son Tien Nguyen, Tuan Dinh Le

Introduction: The clinical picture of parathyroid tumors is mainly related to hypercalcemia such as kidney stones and bone and muscle pain. However, spontaneous cervical hemorrhage due to parathyroidoma bleeding is rare with clinical manifestations of the painful swelling and bruising of the neck accompanied by dysphagia and dyspnea.

Case presentation: We report a case of a 71-year-old female patient who presented with acute cervical swelling and extensive bleeding spreading from the neck to the abdomen and 2 flanks. Investigation of patients revealed increased parathyroid hormone levels and hypercalcemia. The neck ultrasound showed the thyroid nodules in 2 lobes, and goiter plongeant on the right. Computed tomography scan images showed a hematoma spreading from the right side of the neck to the mediastinum.

Result: The patient required emergency surgery due to dyspnea and hemodynamic instability. The preoperative diagnosis was cervical bleeding with the likely cause being thyroid nodule rupture. However, during the surgery, the bleeding source was determined to be the right parathyroid tumor located deeply below the superior mediastinum. The patient's histopathological result of the tumor is parathyroid adenocarcinoma.

Conclusion: From our experience, the hemorrhage from parathyroid tumor should be considered as a cause of acute neck bleeding when no history of trauma or surgery is identified. Post-surgery histopathological analyses of the tumor are very important to detect parathyroid adenocarcinoma.

简介:甲状旁腺肿瘤的临床表现主要与肾结石、骨骼肌疼痛等高钙血症有关。然而,由甲状旁腺瘤出血引起的自发性宫颈出血是罕见的,临床表现为颈部疼痛的肿胀和瘀伤,并伴有吞咽困难和呼吸困难。病例介绍:我们报告了一例71岁的女性患者,她表现为急性颈部肿胀和广泛出血,从颈部扩散到腹部和两侧。患者的调查显示甲状旁腺激素水平升高和高钙血症。颈部超声示2叶甲状腺结节,右侧甲状腺肿大。计算机断层扫描图像显示血肿从颈部右侧扩散到纵隔。结果:患者因呼吸困难及血流动力学不稳定需紧急手术治疗。术前诊断为宫颈出血,可能原因为甲状腺结节破裂。然而,在手术中,出血源被确定为位于上纵隔下方深处的右侧甲状旁腺肿瘤。患者肿瘤的组织病理学结果为甲状旁腺癌。结论:根据我们的经验,在没有外伤或手术史的情况下,甲状旁腺瘤出血应被认为是急性颈部出血的原因。术后肿瘤的组织病理学分析对诊断甲状旁腺癌非常重要。
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引用次数: 0
Massive Right Chylothorax Secondary to a Severe Systemic Lupus Erythematosus Flare With Secondary Evans Syndrome: A Case Report and Literature Review. 严重系统性红斑狼疮伴继发Evans综合征继发大量右侧乳糜胸1例报告及文献复习。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231186735
David Corredor-Orlandelli, Andrés Arévalo-Romero, Carlos Reyes, Dylan Arango

This case report describes a 23-year-old male patient who presented with right chylothorax as the initial manifestation of a severe flare of systemic lupus erythematosus (SLE) and secondary Evans syndrome. Chylothorax and chylous ascites are rare features of SLE that can occur due to the accumulation of triglyceride-rich fluid in serous cavities. However, they have never been reported as the initial manifestation of a lupus flare. Evans syndrome is a rare disease characterized by autoimmune hemolytic anemia and immune thrombocytopenia, which can be secondary to SLE. The concomitant occurrence of both chylothorax and Evans syndrome in the setting of systemic lupus erythematosus has never been described, and the exact causative mechanisms of both entities are yet to be fully understood. In this report, we discuss our approach to this challenging case to broaden the understanding of the clinical manifestations of systemic lupus erythematosus. Our findings emphasize the importance of considering rare features of systemic lupus erythematosus and secondary diseases when evaluating patients with the disease.

本病例报告描述了一位23岁的男性患者,他以系统性红斑狼疮(SLE)和继发性埃文斯综合征的严重发作为初始表现,右侧乳糜胸。乳糜胸和乳糜腹水是SLE的罕见特征,可由于富含甘油三酯的液体在浆液腔内积聚而发生。然而,它们从未被报道为狼疮发作的最初表现。Evans综合征是一种罕见的疾病,其特征是自身免疫性溶血性贫血和免疫性血小板减少症,可继发于SLE。乳糜胸和Evans综合征在系统性红斑狼疮的背景下同时发生从未被描述过,这两种实体的确切致病机制尚未完全了解。在本报告中,我们讨论我们的方法,以esta具有挑战性的情况下,以扩大对系统性红斑狼疮的临床表现的理解。我们的研究结果强调了在评估系统性红斑狼疮患者时考虑罕见特征和继发疾病的重要性。
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引用次数: 0
Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature. 青少年发病原发性辅酶Q10缺乏伴罕见的辅酶q8a基因突变:1例报告及文献复习。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231188061
Mahsa Hojabri, Abolfazl Gilani, Rana Irilouzadian, Habibe Nejad Biglari, Roham Sarmadian

Background: Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.

Case report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ10D4. After supplementary treatment with CoQ10 50 mg/twice a day for 2 months the clinical symptoms improved.

Conclusion: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

背景:原发性辅酶Q10缺乏症-4 (CoQ10D4)是一种影响不同年龄组的异质性疾病。主要临床表现为小脑性共济失调、运动不耐受、肌张力障碍。病例报告:我们提供了一例青春期发病的共济失调、头震颤和近端肌肉无力,伴有精神特征和血清尿素(49.4 mg/dL)、乳酸(7.5 mmol/L)和辅酶q10水平(0.4 μ g/mL)异常。脑部mri显示小脑萎缩,胼胝体变薄,白质丢失。全外显子组测序显示纯合错义突变(c.911C>T;p.A304V)是CoQ8A基因的罕见突变和CoQ10D4的负责变异体。补充辅酶q10 50 mg/ 2次/天治疗2个月后,临床症状得到改善。结论:这些观察结果突出了早期诊断潜在可治疗的CoQ8A突变以及患者教育和随访的重要性。我们的发现扩大了CoQ8A表型特征的范围,使临床医生不仅熟悉严重的儿童期发作的共济失调,而且熟悉伴随精神问题的青春期的疾病。
{"title":"Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.","authors":"Mahsa Hojabri,&nbsp;Abolfazl Gilani,&nbsp;Rana Irilouzadian,&nbsp;Habibe Nejad Biglari,&nbsp;Roham Sarmadian","doi":"10.1177/11795476231188061","DOIUrl":"https://doi.org/10.1177/11795476231188061","url":null,"abstract":"<p><strong>Background: </strong>Primary deficiency of coenzyme Q<sub>10</sub> deficiency-4 (CoQ<sub>10</sub>D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.</p><p><strong>Case report: </strong>We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ<sub>10</sub>D4. After supplementary treatment with CoQ<sub>10</sub> 50 mg/twice a day for 2 months the clinical symptoms improved.</p><p><strong>Conclusion: </strong>These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231188061"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e0/0d/10.1177_11795476231188061.PMC10354825.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9904866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Granulomatosis With Polyangiitis Presenting as an Infratemporal Fossa Mass. 肉芽肿伴多血管炎表现为颞下窝肿块。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231161982
Sulgi Kim, Steven M Johnson, Erin Lopez, Taylor Stack, Meredith M Lamb, Abdullah L Zeatoun, Ibtisam Mohammad, Daniel Alicea Delgado, Meghan Norris, Christine Klatt-Cromwell, Brian Thorp, Charles S Ebert, Brent A Senior, Adam J Kimple

Granulomatosis with polyangiitis is a rare autoimmune disease that affects small to medium-sized blood vessels throughout the body. Here, we present a case of an infratemporal mass that was the result of granulomatosis with polyangiitis. A 51-year-old male presented to the emergency department due to right cheek and facial pain that he had been experiencing for 2 to 3 months. An MRI revealed a mass within the right infratemporal and pterygopalatine fossae extending into the inferior right orbital fissure along the maxillary division of the trigeminal nerve (V2) and the vidian nerve causing concern for malignancy. Histology from an endoscopic biopsy demonstrated multiple arteries with luminal obliteration with non-necrotizing granulomas. The patient was started on steroids and immunosuppressive therapy, which improved his symptoms and decreased the size of the residual mass. This case illustrates the need for laboratory testing, imaging, and biopsy of the involved tissue in cases where GPA is suspected to prevent treatment delays that could lead to the destruction of vital organs.

肉芽肿病合并多血管炎是一种罕见的自身免疫性疾病,影响全身的中小血管。在此,我们报告一例由肉芽肿病合并多血管炎引起的颞下肿块。51岁男性,因右脸颊和面部疼痛2 - 3个月就诊急诊科。MRI显示右侧颞下窝和翼腭窝内有肿块,沿三叉神经(V2)和视神经上颌分支延伸至右下眶裂,可能为恶性肿瘤。内镜活检组织学显示多动脉伴腔内闭塞伴非坏死性肉芽肿。患者开始接受类固醇和免疫抑制治疗,这改善了他的症状,减少了残余肿块的大小。本病例说明,在怀疑GPA的病例中,需要对相关组织进行实验室检查、成像和活检,以防止可能导致重要器官破坏的治疗延误。
{"title":"Granulomatosis With Polyangiitis Presenting as an Infratemporal Fossa Mass.","authors":"Sulgi Kim,&nbsp;Steven M Johnson,&nbsp;Erin Lopez,&nbsp;Taylor Stack,&nbsp;Meredith M Lamb,&nbsp;Abdullah L Zeatoun,&nbsp;Ibtisam Mohammad,&nbsp;Daniel Alicea Delgado,&nbsp;Meghan Norris,&nbsp;Christine Klatt-Cromwell,&nbsp;Brian Thorp,&nbsp;Charles S Ebert,&nbsp;Brent A Senior,&nbsp;Adam J Kimple","doi":"10.1177/11795476231161982","DOIUrl":"https://doi.org/10.1177/11795476231161982","url":null,"abstract":"<p><p>Granulomatosis with polyangiitis is a rare autoimmune disease that affects small to medium-sized blood vessels throughout the body. Here, we present a case of an infratemporal mass that was the result of granulomatosis with polyangiitis. A 51-year-old male presented to the emergency department due to right cheek and facial pain that he had been experiencing for 2 to 3 months. An MRI revealed a mass within the right infratemporal and pterygopalatine fossae extending into the inferior right orbital fissure along the maxillary division of the trigeminal nerve (V2) and the vidian nerve causing concern for malignancy. Histology from an endoscopic biopsy demonstrated multiple arteries with luminal obliteration with non-necrotizing granulomas. The patient was started on steroids and immunosuppressive therapy, which improved his symptoms and decreased the size of the residual mass. This case illustrates the need for laboratory testing, imaging, and biopsy of the involved tissue in cases where GPA is suspected to prevent treatment delays that could lead to the destruction of vital organs.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231161982"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6b/96/10.1177_11795476231161982.PMC10041614.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9226895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Diagnostic Dilemma of ANA-negative Pediatric Systemic Lupus Erythematosus in a South Asian Female. 南亚女性ana阴性儿童系统性红斑狼疮的诊断困境。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231174321
Qaisar Ali Khan, Tehmina Khan, Parsa Abdi, Christopher Farkouh, Michelle Anthony, Faiza Amatul Hadi, Sumaira Iram

Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs with different degrees of severity. SLE is typically diagnosed based on the presence of antinuclear antibodies (ANA) in the serum. However, seronegative SLE is rare and is diagnosed by clinicians when the patient's ANA is negative but fulfills other diagnostic criteria.

Case report: We report a case of a 15-year-old South Asian female with SLE who had negative antinuclear antibodies yet displayed the typical clinical presentations of photosensitive maculopapular rash, joint pain, alopecia, anemia, and thrombocytopenia. Clinical evaluations in conjunction with lab results were used to establish a diagnosis of ANA-negative SLE.

Conclusion: ANA positivity is an entry criterion for SLE; rarely, cases of ANA-negative SLE may present. A typical clinical presentation may help determine the diagnosis in such a scenario. However, still, the physician should rule out immunodeficiency and other systemic illnesses before reaching a diagnosis of ANA-negative pediatric SLE.

背景:系统性红斑狼疮(SLE)是一种影响多器官的自身免疫性疾病,其严重程度不同。SLE的诊断通常基于血清中抗核抗体(ANA)的存在。然而,血清阴性SLE是罕见的,当患者的ANA阴性但满足其他诊断标准时,临床医生才会诊断出SLE。病例报告:我们报告一例15岁南亚女性SLE患者,抗核抗体阴性,但典型临床表现为光敏性黄斑丘疹、关节疼痛、脱发、贫血和血小板减少。临床评估与实验室结果相结合用于建立ana阴性SLE的诊断。结论:ANA阳性是SLE的进入标准;很少会出现ana阴性的SLE病例。在这种情况下,典型的临床表现可能有助于确定诊断。然而,在得出ana阴性儿童SLE的诊断之前,医生仍然应该排除免疫缺陷和其他全身性疾病。
{"title":"Diagnostic Dilemma of ANA-negative Pediatric Systemic Lupus Erythematosus in a South Asian Female.","authors":"Qaisar Ali Khan,&nbsp;Tehmina Khan,&nbsp;Parsa Abdi,&nbsp;Christopher Farkouh,&nbsp;Michelle Anthony,&nbsp;Faiza Amatul Hadi,&nbsp;Sumaira Iram","doi":"10.1177/11795476231174321","DOIUrl":"https://doi.org/10.1177/11795476231174321","url":null,"abstract":"<p><strong>Background: </strong>Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs with different degrees of severity. SLE is typically diagnosed based on the presence of antinuclear antibodies (ANA) in the serum. However, seronegative SLE is rare and is diagnosed by clinicians when the patient's ANA is negative but fulfills other diagnostic criteria.</p><p><strong>Case report: </strong>We report a case of a 15-year-old South Asian female with SLE who had negative antinuclear antibodies yet displayed the typical clinical presentations of photosensitive maculopapular rash, joint pain, alopecia, anemia, and thrombocytopenia. Clinical evaluations in conjunction with lab results were used to establish a diagnosis of ANA-negative SLE.</p><p><strong>Conclusion: </strong>ANA positivity is an entry criterion for SLE; rarely, cases of ANA-negative SLE may present. A typical clinical presentation may help determine the diagnosis in such a scenario. However, still, the physician should rule out immunodeficiency and other systemic illnesses before reaching a diagnosis of ANA-negative pediatric SLE.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231174321"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/41/32/10.1177_11795476231174321.PMC10186573.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9501290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of a Young Multiple Myeloma Patient With Poor Prognostic Cytogenetics. 细胞遗传学预后不良的年轻多发性骨髓瘤患者一例。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231157245
Effat Iranijam, Somaieh Matin, Mohammad Negaresh

Multiple myeloma is a hematologic malignancy and a subtype of plasma cell dyscrasias, which accounts for 13% of all hematologic malignancies. It mainly affects older adults and is diagnosed in only 2% of the young population under the age of 40 years. This report presents a 33-year-old man diagnosed with Multiple myeloma with 4 poor prognostic specifications consisting of amplification of the 1q21, Translocation of t(4;14), deletion of the 6q21 and 13q14, along with decreased chromosome count to 44, X,-Y. Even though the combination of 4 poor prognostic cytogenetics in young patients is rare, he responded significantly to the Bortezomib regimen. He was selected as a candidate for bone marrow transplantation. The treatments get interrupted 2 days after the first session of the fifth cycle due to an undesirable COVID-19 infection. After 20 days, the symptoms return, and paraclinical findings show signs of MM relapse.

多发性骨髓瘤是一种血液恶性肿瘤,是浆细胞异常的一种亚型,占所有血液恶性肿瘤的13%。它主要影响老年人,只有2%的40岁以下年轻人被诊断出患有此病。本文报告一例33岁男性多发性骨髓瘤患者,伴有4个不良预后指标,包括1q21扩增、t易位(4;14)、6q21和13q14缺失以及染色体数量减少至44、X、-Y。尽管4种预后不良的细胞遗传学组合在年轻患者中很少见,但他对硼替佐米方案有显著反应。他被选为骨髓移植的候选人。由于不希望的COVID-19感染,治疗在第五个周期的第一次疗程2天后中断。20天后,症状恢复,临床表现显示MM复发的迹象。
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引用次数: 1
Monotherapy With a Non-Hormonal Centella Asiatica, Hyaluronic Acid, and Prebiotic-Based Vaginal Gel in Women With Bacterial Vaginosis: Case Series. 非激素积雪草、透明质酸和益生元阴道凝胶单药治疗细菌性阴道病:病例系列。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 10.1177/11795476231157244
Aaron Jodar, Luis Soto, Eva Turell, Javier Cortés

Bacterial vaginosis (BV) affects nearly one-third of women worldwide and may predispose patients to sexually transmitted infections or pelvic inflammatory disease. Currently recommended treatment is based on antibiotic use, which poses problems such as antibiotic resistance and the development of secondary vaginal candidiasis. Palomacare® is a non-hormonal vaginal gel containing hyaluronic acid, Centella asiatica and prebiotics, with repairing and moisturizing properties used for dysbiosis healing as an adjuvant treatment. A series of 3 cases using the vaginal gel as a monotherapy showed that symptoms improved and even disappeared in women with initial or recurrent BV, suggesting that this vaginal gel is effective for BV monotherapy in women of reproductive age.

细菌性阴道病(BV)影响全球近三分之一的女性,并可能使患者易患性传播感染或盆腔炎。目前推荐的治疗是基于抗生素的使用,这带来了诸如抗生素耐药性和继发性阴道念珠菌病的发展等问题。Palomacare®是一种非激素阴道凝胶,含有透明质酸、积雪草和益生元,具有修复和保湿特性,用于生态失调愈合作为辅助治疗。连续3例使用阴道凝胶单药治疗BV的病例表明,首发或复发性BV的女性症状改善甚至消失,提示该阴道凝胶对育龄女性BV单药治疗有效。
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引用次数: 1
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Clinical Medicine Insights. Case Reports
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