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Factor VII Deficiency in Systemic Primary Amyloidosis: A Rare Case 系统性原发性淀粉样变性缺乏因子7:一例罕见病例
Pub Date : 2018-12-09 DOI: 10.5430/CRIM.V5N4P28
F. Dursun, Erdal Akyar, G. Uygun, Z. Başlar, B. Çobanoğlu
Introduction: Isolated and combined factor deficiencies are known to occur in systemic primary amyloidosis. The most common factor deficiency known in these cases is isolated factor X deficiency. Other factor deficiencies are relatively less frequent. Isolated factor VII deficiency occurs very rarely in cases of systemic primary amyloidosis.Case report: A 58-year-old male patient previously presenting to another health center with complaints of generalized edema, fatigue, and itching had proteinuria and then he was diagnosed with systemic primary amyloidosis after the renal biopsy for proteinuria etiology. The patient’s laboratory tests showed prolongation of prothrombin time and factor VII deficiency. The patient responded well to the treatment for primary amyloidosis and factor VII deficiency.Discussion: In cases of systemic primary amyloidosis, if the etiology of prolonged prothrombin time involves no liver disease, warfarin use, or malabsorption, physicians should always keep in mind rare factor deficiencies such as factor VII deficiency, along with common factor deficiencies.
简介:已知在全身性原发性淀粉样变性中存在单独的和联合的因子缺乏。在这些病例中,已知最常见的因子缺乏是孤立的因子X缺乏。其他因素缺乏相对较少。在全身性原发性淀粉样变性病例中,很少发生孤立性因子VII缺乏。病例报告:一名58岁男性患者,先前以全身性水肿、疲劳、瘙痒为主诉到另一个卫生中心就诊,有蛋白尿,然后在蛋白尿病因肾活检后诊断为全身性原发性淀粉样变性。患者实验室检查显示凝血酶原时间延长和因子VII缺乏。患者对原发性淀粉样变性和因子VII缺乏症的治疗反应良好。讨论:在全身性原发性淀粉样变性病例中,如果凝血酶原时间延长的病因不涉及肝脏疾病、使用华法林或吸收不良,医生应始终牢记罕见的因子缺乏,如因子7缺乏,以及常见的因子缺乏。
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引用次数: 1
A case of normoprolactinemic galactorrhea following aneurysmal subarachnoid hemorrhage 动脉瘤性蛛网膜下腔出血并发正常泌乳素溢乳1例
Pub Date : 2018-12-06 DOI: 10.5430/CRIM.V6N1P8
E. Uy, K. Asadipooya
Galactorrhea is most commonly associated with elevated levels of prolactin; however, it does happen in individuals whose prolactin level is within normal range. Galactorrhea has been reported after neurosurgical procedures, cranial trauma or cerebral hemorrhage affecting the hypothalamus, pituitary or pituitary stalk, but these were associated with elevated levels of prolactin. In our knowledge, there has not been a case reported wherein a patient developed normoprolactinemic galactorrhea after an aneurysmal subarachnoid hemorrhage. The etiology and pathophysiology of normoprolactinemic galactorrhea have not been distinctly defined making this entity a diagnostic and therapeutic challenge for physicians.
乳漏最常与催乳素水平升高有关;然而,它确实发生在催乳素水平在正常范围内的个体。据报道,在神经外科手术、颅脑外伤或脑出血影响下丘脑、垂体或垂体柄后会发生乳漏,但这些都与催乳素水平升高有关。据我们所知,还没有一个病例报告,其中一个病人发展正常催乳素乳漏后动脉瘤性蛛网膜下腔出血。正常泌乳素泌乳症的病因和病理生理尚未明确定义,这对医生来说是一个诊断和治疗的挑战。
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引用次数: 0
Biopsy utility in the workup of ANCA-associated vasculitis 活检在anca相关血管炎检查中的应用
Pub Date : 2018-12-04 DOI: 10.5430/CRIM.V6N1P5
C. Anjo, H. Campos, Sofia Narciso, G. Silva, F. Duarte
ANCA - associated Vasculitis (AAV) positive biopsy is supportive of vasculitis diagnosis, the aim of this manuscript is that renal biopsy is not always compulsory in the diagnosis and management of AAV. 79 years old, Caucasian women, admitted with AAV suspicion, MPO positive. A Microscopic polyangiitis with a pulmonary – renal syndrome was diagnosed after other AAV were excluded. Remission induction and maintenance therapy was made. In 6 months the patient presented a considerable improvement with lower MPO value, ESR and a stabilization of kidney function. Renal biopsy has to be performed in the majority of patients with the suspicion or renal AAV, although in this case it was not performed considering that the patient was on chronic anticoagulation and renal biopsy was not essential for the diagnosis. We suggest that renal biopsy is a valuable method in establishes the aetiology of kidney disease and that it could be dismissed in AAV with suggestive clinical presentation and low suspicion for secondary vasculitis.
ANCA相关性血管炎(AAV)阳性活检支持血管炎的诊断,这篇文章的目的是肾活检并不总是在AAV的诊断和管理的强制性。79岁,白人女性,承认有AAV嫌疑,MPO阳性。排除其他AAV后,诊断为镜下多血管炎伴肺肾综合征。进行缓解诱导和维持治疗。6个月后,患者表现出明显的改善,MPO值、ESR降低,肾功能稳定。大多数怀疑肾AAV的患者必须进行肾活检,尽管考虑到患者正在进行慢性抗凝治疗,肾活检对于诊断不是必需的,因此没有进行肾活检。我们认为,肾活检是确定肾脏疾病病因的一种有价值的方法,在临床表现可疑、继发性血管炎的AAV中可以排除肾活检。
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引用次数: 1
Swyer-James-MacLeod Syndrome: A case report in an adult and review of the literature Swyer-James MacLeod综合征:一例成人病例报告及文献复习
Pub Date : 2018-10-29 DOI: 10.5430/CRIM.V5N4P23
E. Trejo, C. Le, G. Weinstein, Patrick Barr, M. Feldman
Swyer-James-MacLeod Syndrome (SJMS) is a rare, unilateral lung disease represented by radiographic translucency of the lung parenchyma secondary to the diminution of the pulmonary vasculature and to the overdistention of the alveoli. It is an uncommon sequela of post-infectious bronchiolitis obliterans (BO) in childhood. Patients with SJMS are often diagnosed in childhood and typically present with recurrent respiratory tract infections. Symptoms during childhood can be mild or absent, leading to a delayed diagnosis in adulthood. SJMS is characterized by the destruction of the small bronchioles and agenesis or hypoplasia of the pulmonary arteries leading to hypoperfusion of the pulmonary parenchyma, resulting in characteristic chest imaging findings of unilateral hyperlucency or translucence.Swyer and James first described this syndrome in 1953. It is a rare disease that can be can be caused by an infection with adenoviruses (types 3, 7, or 21) or Bordetella pertussis, a foreign body in the airway and hydrocarbon inhalation. We present a case of SJMS in whom the adult patient had been misdiagnosed with chronic obstructive pulmonary disease (COPD). She was eventually diagnosed with SJMS based on chest x-ray and chest CT findings of unilateral lung hyperlucency, as well as with scintigraphic findings showing virtually absent perfusion to the left lower lobe of the lung.
Swyer-James-MacLeod综合征(SJMS)是一种罕见的单侧肺部疾病,表现为继发于肺血管缩小和肺泡过度扩张的肺实质x线片半透明。它是儿童感染后闭塞性细支气管炎(BO)的罕见后遗症。SJMS患者通常在儿童时期被诊断出来,通常表现为反复呼吸道感染。儿童时期的症状可能很轻微或没有症状,导致成年后诊断延迟。SJMS的特点是小细支气管被破坏,肺动脉发育不全或发育不全,导致肺实质灌注不足,导致单侧高透明或半透明的胸部影像学表现。斯威尔和詹姆斯在1953年首次描述了这种综合症。这是一种罕见的疾病,可由腺病毒(3型、7型或21型)或百日咳博德泰拉感染、气道异物和吸入碳氢化合物引起。我们报告一例SJMS,其中成人患者被误诊为慢性阻塞性肺疾病(COPD)。根据胸部x线和胸部CT单侧肺透光,以及扫描显示肺左下叶几乎没有灌注,最终诊断为SJMS。
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引用次数: 0
“Heartbeat in the head”–An atypical presentation of Dural Arteriovenous Malformation “头部心跳”-硬脑膜动静脉畸形的非典型表现
Pub Date : 2018-10-24 DOI: 10.5430/CRIM.V5N4P19
Shekhawat Ravindra Singh, Lim Winston Eng Hoe, Yong Kok Pin, D. Silva, Sonu Kumar Sumit
Pulsatile tinnitus is an uncommon presenting symptom and is perceived to be repetitively synchronous with the patient’s heartbeat. Prompt recognition of this rare symptom and subsequent early identification of the underlying etiology is essential for timely management to prevent potentially major complications. Here we highlight a case of a middle-aged female who presented with symptom of ‘heartbeat in the head’ and was later found to have left dural arteriovenous fistula.
脉动性耳鸣是一种不常见的症状,被认为与患者的心跳重复同步。及时识别这种罕见症状并随后早期识别潜在病因对于及时治疗以预防潜在的重大并发症至关重要。在这里,我们重点介绍一名中年女性的病例,她出现了“头部心跳”的症状,后来被发现患有左侧硬脑膜动静脉瘘。
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引用次数: 0
Case reports of unexplained weight loss in autoimmune central neurological syndromes with anti-GAD antibodies 应用抗GAD抗体治疗自身免疫性中枢神经系统综合征的不明原因体重减轻病例报告
Pub Date : 2018-09-28 DOI: 10.5430/CRIM.V6N2P5
J. Broadley, M. Monif
Glutamic acid decarboxylase (GAD) is becoming increasingly recognised as an antigenic target in autoimmune disorders of the central nervous system. There are currently no reports of weight loss being a manifestation in such disorders. We describe two cases of anti-GAD associated neurological disorders with profound and otherwise unexplained weight loss. Both patients had incomplete response to immunotherapy, as is becoming typical of these disorders. The variable disease associations of anti-GAD antibodies is incompletely understood, and leads us to question whether weight loss in these patients could possibly be immune-mediated.
谷氨酸脱羧酶(GAD)越来越被认为是中枢神经系统自身免疫性疾病的抗原靶点。目前还没有关于这种疾病表现为体重减轻的报告。我们描述了两例抗GAD相关的神经系统疾病,伴有严重的和其他无法解释的体重减轻。这两名患者对免疫疗法都有不完全的反应,这正成为这些疾病的典型表现。抗GAD抗体的可变疾病相关性尚不完全清楚,这让我们怀疑这些患者的体重减轻是否可能是免疫介导的。
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引用次数: 0
Giant renal oncocytoma presenting with right flank pain and hematoma 巨大肾癌细胞瘤表现为右侧疼痛和血肿
Pub Date : 2018-09-27 DOI: 10.5430/CRIM.V5N4P13
Robert Zakhia El Doueihi, M. Bulbul
Renal oncocytomas are benign tumors representing 3% to 7% of primary renal neoplasms. Oncocytomas are often asymptomatic, discovered incidentally on routine radiological imaging. We report a giant renal oncocytoma in a 68-year-old male with chronic kidney disease. Patient had right upper quadrant pain and hematoma. The mass was palpable on physical exam. CT scan showed a 16 cm × 14 cm right renal mass, consistent with renal cell carcinoma, no major adenopathy, no renal vein invasion. Right radical nephrectomy was performed and histological examination was consisted with oncocytoma.
肾嗜瘤细胞瘤为良性肿瘤,占原发性肾肿瘤的3% ~ 7%。嗜瘤细胞瘤通常无症状,是在常规影像学检查中偶然发现的。我们报告一例68岁男性慢性肾脏疾病的巨大肾嗜瘤细胞瘤。患者有右上腹疼痛和血肿。体格检查时可摸到肿块。CT示右肾16 cm × 14 cm肿块,符合肾细胞癌,无重大腺病,无肾静脉浸润。行右侧根治性肾切除术,组织学检查为癌细胞瘤。
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引用次数: 0
Nonspecific interstitial pneumonia: A rare adverse reaction of atorvastatin 非特异性间质性肺炎:阿托伐他汀罕见的不良反应
Pub Date : 2018-09-27 DOI: 10.5430/CRIM.V5N4P16
Jack Xu, S. Verga, J. Stoll, Lauren Pioppo, E. Shanahan, W. Khan
Introduction: Statins have been shown to effectively prevent both cardiovascular morbidity and mortality by inhibiting the hydroxymethylglutaryl coenzyme A (HMG-CoA) reductase enzyme. Pulmonary complications are very rare, and can include pneumonitis, pleural effusion, and nonspecific interstitial pneumonia (NSIP). There have been very few previously documented cases of statin-induced fibrotic NSIP.Case report: We present a female with a history of hyperlipidemia on atorvastatin who presented with shortness of breath. Computed tomography scan of the chest revealed interstitial infiltrates with bilateral ground-glass opacities. She underwent a surgical lung biopsy which showed uniform fibrous alveolar septal thickening, scattered collections of alveolar macrophages and inflammation, along with areas of fibrosis. The findings were most suggestive of fibrotic NSIP. Atorvastatin was stopped and she was started on mycophenolic acid with improvement of her symptoms.Discussion: Although rare, the clinician should be aware of possible pulmonary complications of statin therapy. The exact mechanism of injury is unclear, however immunological or toxicological mechanisms are implicated. One case series of statin induced interstitial lung disease showed some improvement of dyspnea with systemic glucocorticoids and termination of statin therapy. Statins, specifically pravastatin, lovastatin, and simvastatin have been associated with drug induced pneumonitis and interstitial lung disease.
他汀类药物已被证明通过抑制羟甲基戊二酰辅酶A (HMG-CoA)还原酶有效地预防心血管疾病和死亡率。肺部并发症非常罕见,可包括肺炎、胸腔积液和非特异性间质性肺炎(NSIP)。以前很少有他汀类药物引起的纤维化NSIP病例。病例报告:我们提出了一个女性高脂血症史阿托伐他汀谁提出呼吸短促。胸部电脑断层扫描显示间质浸润伴双侧磨玻璃影。患者行外科肺活检,发现均匀的纤维肺泡间隔增厚,肺泡巨噬细胞分散聚集,炎症伴纤维化。这些发现最能提示纤维化性NSIP。停用阿托伐他汀后,她开始服用霉酚酸,症状有所改善。讨论:虽然罕见,但临床医生应注意他汀类药物治疗可能出现的肺部并发症。损伤的确切机制尚不清楚,但涉及免疫或毒理学机制。1例他汀类药物引起的间质性肺疾病患者在接受全身糖皮质激素治疗和终止他汀类药物治疗后,呼吸困难有所改善。他汀类药物,特别是普伐他汀、洛伐他汀和辛伐他汀与药物性肺炎和间质性肺疾病有关。
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引用次数: 0
Severe folate deficiency anemia associated with the use of a PARP inhibitor (olaparib) in a patient with fallopian tube cancer 输卵管癌患者使用PARP抑制剂(奥拉帕尼)相关的严重叶酸缺乏性贫血
Pub Date : 2018-09-27 DOI: 10.5430/CRIM.V6N1P1
B. Yohannan, K. McIntyre, M. Feldman
Treatment of cancer patients with olaparib (PARP inhibitor) is associated with an increased risk of anemia, which is seen in a majority of treated patients. However, symptomatic anemia requiring transfusion is rare. Olaparib-induced anemia can be secondary to bone marrow suppression, hemolysis or folate deficiency. We report a case of new onset severe folic acid deficiency anemia in a patient with breast and relapsed fallopian tube cancer being treated with olaparib. Complete blood count on admission showed a hemoglobin of 4.2 g/dl and serum folate was undetectable (< 1.6 ng/ml; reference range 7-31.4 ng/ml). This is the second report of olaparib-induced folate deficiency anemia. She received three units packed red cell transfusion and parenteral folic acid supplementation and improved symptomatically. This case highlights the importance of recognizing folate deficiency as a reversible cause of anemia with PARP inhibitor therapy.
用奥拉帕尼(PARP抑制剂)治疗癌症患者与贫血风险增加相关,这在大多数接受治疗的患者中可见。然而,需要输血的症状性贫血是罕见的。奥拉帕尼诱发的贫血可继发于骨髓抑制、溶血或叶酸缺乏。我们报告一例新发严重叶酸缺乏性贫血患者与乳腺癌和复发输卵管癌正在接受奥拉帕尼治疗。入院时全血细胞计数显示血红蛋白为4.2 g/dl,血清叶酸未检出(< 1.6 ng/ml;参考范围7-31.4 ng/ml)。这是奥拉帕尼引起的叶酸缺乏性贫血的第二篇报道。她接受了3个单位的红细胞输血和静脉注射补充叶酸,症状得到改善。本病例强调了认识叶酸缺乏作为PARP抑制剂治疗贫血的可逆原因的重要性。
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引用次数: 2
Apical ballooning (Takotsubo) syndrome in the setting of chronic alcohol-induced hyponatremia 慢性酒精性低钠血症患者的根尖球囊(Takotsubo)综合征
Pub Date : 2018-09-26 DOI: 10.5430/CRIM.V5N4P10
Y. Hailemariam, Olufolahan Carrena, D. Eshun, Henry E. Okafor
 Takotsubo cardiomyopathy is also known as stress induced cardiomyopathy and transient left ventricular apical ballooning syndrome. There have been few case reports where hyponatremia was implicated as a trigger for stress-induced cardiomyopathy. We report the unusual case of a 79-year-old African American woman without any discernible recent stressors who presented atypically with generalized fatigue and was found to have severe hyponatremia (from chronic alcohol use and thiazide diuretics) and significantly elevated Troponin. Her echocardiogram and cardiac catheterization revealed typical features of apical ballooning syndrome.
Takotsubo心肌病也被称为应激性心肌病和一过性左室心尖球囊综合征。很少有低钠血症被认为是诱发应激性心肌病的病例报告。我们报告一个不寻常的病例,一位79岁的非裔美国妇女,最近没有任何可识别的压力源,她表现出非典型的全身疲劳,被发现有严重的低钠血症(来自慢性酒精使用和噻嗪类利尿剂)和显著升高的肌钙蛋白。她的超声心动图和心导管检查显示了典型的根尖球囊综合征的特征。
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引用次数: 0
期刊
Case reports in internal medicine
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