儿童巴特综合征药物治疗一例分析暨文献复习

目的:加强对儿童巴特综合征药物治疗的认识,探讨医院药学部门的处方点评模式。方法:分析我院2015年12月的1张巴特综合征患者处方的合理性,并复习相关文献。结果:本张处方初评时被判定为不合理处方,经过临床药师与临床医师的沟通和查阅相关文献,复评时将此处方改判为合理处方,证明了我院三级处方点评模式可以提高药师审查处方的能力,确保处方点评合理、公平。结论:表面上看用药不合理的处方并不一定是真正的不合理,要深入分析处方的内涵,才能对处方进行准确的判定。三级处方点评模式能促进药师学习掌握专业知识技能,提高判断处方的能力。     

原发性子宫颈恶性黑色素瘤1例并文献复习

目的 探讨1例原发性子宫颈恶性黑色素瘤（primary malignant melanoma of the cervix, PMMC）的临床病理学特征、鉴别诊断、治疗及预后。方法 应用HE染色、免疫组织化学染色对武汉市中心医院收治的1例PMMC的临床病理特点及免疫表型进行分析,并进行相关的国内外文献复习。结果 大体标本呈乳头状,色暗红,局灶灰黑,大小4 cm×4 cm;镜下见不规则巢团样排列的肿瘤细胞弥漫浸润子宫颈壁,肿瘤细胞主呈上皮样,胞质较丰富,核多形较明显,少数细胞可见清晰核仁,未见明显色素颗粒;免疫组织化学表型：S-100、SOX-10、melan-A、MiTF弥漫强阳性,p16、vimentin阳性,CD34、D2-40示脉管,Ki-67增殖指数约50%,HMB-45、PCK、p40阴性。结论 PMMC是一种恶性程度极高、临床上罕见的肿瘤,术前诊断主要依赖临床表现、病理活检及免疫组织化学染色结果。手术治疗为主,术后结合辅助治疗,预后差。     

Alport 综合征1 例报道及文献复习

目的:探讨Alport综合征的临床表现,病理学特征及研究进展。方法:分析1例此病患者的临床资料。结果:本例患者临床表现为慢性视力下降。尿常规检查提示蛋白尿,血尿。肾肾穿刺活检的光镜、电镜检查均支持诊断。结论:Alport综合征患者中眼部异常的表现有独特性;了解眼部病变特征并结合全身病史,病理学检查有助于疾病的诊断和随诊。     

成人肾恶性横纹肌样瘤的研究:1例报告及文献复习

应用组织化学、免疫组织化学及电镜技术对我国首例成人肾恶性横纹肌样瘤（ｍ ａｌｉｎｇａｎｔｒｈａｂｄｏｉｄｔｕｍ ｏｒ, ＭＲＴ） 进行了研究, 与婴幼儿ＭＲＴ相比本例有以下临床病理特点： （１） 以血尿为早期和唯一症状,肿块缺乏特征性ＣＴ 改变; （２） 光镜下大量ＰＡＳ阳性嗜酸性球形小体多位于细胞外, 电镜下细胞外小体由微丝构成并有界膜包绕; （３） 免疫组化显示肿瘤细胞向神经外胚层、横纹肌和组织细胞多向性分化; （４） 肿瘤侵袭力较低, 高度表达ｎｍ ２３－Ｈ１ 蛋白, 随访１８个月术后化疗效果佳, 提示其恶性度较婴幼儿ＭＲＴ 低。     

原发性附睾恶性肿瘤1例报告并文献复习

目的：提高原发性附睾恶性肿瘤的诊治水平,探讨原发性附睾恶性肿瘤的组织化学特性、诊治方法及预后。方法：回顾性分析我院收治的1例原发性附睾胚胎性癌患者的发病诊治过程的临床资料并结合文献进行复习。结果：对患者行根治性右侧睾丸、附睾切除术。术后病理回报：附睾、睾丸胚胎性癌,精索未见明显侵犯。术后1年,随诊复查未见异常,至今无复发。结论：附睾恶性肿瘤无特异性,其诊断应综合病史、体检、影象学检查及术中、术后病理确定。手术是治疗附睾肿瘤的首选方法。     

急性冠脉综合征引发恶性室性心律失常6例

目的:进一步研究急性冠脉综合征引发恶性室性心律失常的临床治疗效果。方法:收集了2011年1月-2011年6月我院收治的6例急性冠脉综合征引发恶性室性心律失常患者临床资料进行详细研究,对上述患者进行胺碘酮治疗。结果:上述6例患者,8例成功治疗,5例患者均成功治疗,1例患者室颤反复性发作,死亡,胺碘酮治疗有效率为83.3%。结论:胺碘酮治疗急性冠脉综合征引发恶性室性心律失常的临床疗效确切,不良反应几率小。     

类风湿性关节炎与系统性红斑狼疮重叠综合征一例报告及文献复习

目的:探讨类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠综合征(Rhupus综合征)的临床表现及治疗方法,以期提高对本病的认识。方法:对1例类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠的Rhupus综合征患者的病例资料进行分析。结果:本例患者为中年女性,以RA为首发表现,8年后出现SLE特征性表现。就诊时关节症状较严重,出现多关节变形。本例患者肾脏损害重,糖皮质激素联合甲氨喋呤治疗有效。结论:Rhupus综合征在临床上罕见,加强特异性抗体检查,可减少误诊漏诊,早期正确诊断,积极治疗,对于改善患者预后具有重要意义。     

以中枢神经系统受累为首发表现的干燥综合征1例并文献复习

目的:提高对干燥综合征中枢神经系统损害的认识,了解其特点及治疗。方法:报告1例以中枢神经系统受累为首发表现的干燥综合征病例,并对相关文献进行复习。结果:此例患者以脊髓病变为首发症状,长期口干、眼干,查体及实验室等相关检查诊断干燥综合征明确。结论:干燥综合征可存在中枢神经系统损害,其中脊髓病变较常见,应注意完善影像学及脑脊液检查,并与系统性红斑狼疮等结缔组织病相鉴别。     

局限性膈肌膨升症1例报告暨文献复习

膈肌膨升症是一种少见病,而其中的局限性膈肌膨升症就更加的罕见。近年来,随着广大医务人员的临床病例报道,它已逐渐被人们所认识和了解。但对膈肌膨升症的概括性的文章还相对较少。本文就是要首先通过报告一例局限性膈肌膨升症,使大家初步认识它。然后再通过回顾有关膈肌膨升症的文献,对膈肌膨升症的病因、发病率、症状、分类及其诊断与治疗做出全面的讲述。从而使大家对其有更加深入、全面的了解。     

DiGeorge综合征1例报告

DiGeorge综合征（先天性胸腺发育不全）是由于第3、4咽腭弓发育异常出现胸腺、甲状旁腺发育障碍,部分伴有心脏大血管和面部畸形。胸腺不发育或发育不良而造成T细胞功能缺陷的疾病。可分为完全型和部分型2种免疫缺陷程度。     

骨髓增生异常综合征合并非霍奇金淋巴瘤一例病例报道并文献复习

目的:探讨骨髓增生异常综合征合并非霍奇金淋巴瘤的发病机制、诊断及治疗,并判断其预后情况。方法:回顾我院收治的一例骨髓增生异常综合征(MDS)患者同时诊断间变大细胞淋巴瘤(ALCL)患者的临床资料,总结其诊断及治疗经过,对其预后进行评价。结果:该患者诊断间变大细胞淋巴瘤后,经化疗对症治疗病情无显著改善,且患者ALK阳性,考虑预后较差,建议造血干细胞移植。结论:骨髓增生异常综合征合并非霍奇金淋巴瘤的病例在国内外十分罕见,治疗方法目前尚需进一步研究。     

The Wilson-Mikity Syndrome—Case Report and Review of Literature

The Wilson-Mikity Syndrome is a newly described respiratory ailment of very premature infants. It is typified by its characteristic clinical course, with onset after a period of well-being, and radiologic findings of coarse infiltrates alternating with cystic changes. At least four cases have occurred in the last two years at the University of California Medical Center, San Francisco. An exemplary case is given. The pathophysiology of the syndrome appears to relate primarily to abnormal ventilation perfusion relationships resulting from uneven lung compliance. It is suggested that the syndrome results from a distortion of the normal development of the fetal lung.     

以疲乏为主诉的肿瘤内分泌副综合征一例并文献复习

目的:肿瘤内分泌副综合症是肿瘤病人需警惕的并发症,抗利尿激素分泌异常综合症是其较常见的一种,常无明显临床表现,容易忽视和漏诊,其与肿瘤发病率,死亡率相关.本文旨在探讨肿瘤内分泌副综合症的早期诊治以便有助于改善患者的生存质量及预后.方法:通过报道一例以疲乏为主诉的肿瘤副综合症并进行相关文献的回顾性复习与分析.结果:准确诊断内分泌副肿瘤综合症是临床医生必须高度重视的,对部分肿瘤内分泌副综合症为排除性诊断,需要完善的临床资料,不可轻易诊断.治疗以控制肿瘤为主结合控制引起综合症的内分泌原因.结论:肿瘤内分泌综合症需要受到临床医师重视,尽量减少漏诊误诊,完善资料准确诊断,积极治疗可改善预后.     

Large Adrenal Oncocytoma with Uncertain Malignant Potential: Case Report and Review of Literature

ObjectiveTo report a case of oncocytoma, a relatively rare adrenal tumor, which most commonly is detected as an adrenal incidentaloma.MethodsWe present a case report, including laboratory, imaging, and pathologic findings, of a 47-year-old obese woman who had hypertension and an incidentally found large, left adrenal mass.ResultsOn the basis of the hormonal evaluation, this mass was a nonsecreting adrenal tumor, which histologically proved to be an oncocytoma with borderline malignant characteristics. A collective analysis of the few cases of adrenal oncocytoma published in the medical literature showed that our case corresponded to the previously published cases in preponderant location (left side) as well as the general size (11.4 cm in the largest dimension) and weight (372 g).ConclusionAdrenal oncocytoma should be included in the differential diagnosis of adrenal incidentalomas, especially if large tumors are detected. In addition, a longterm follow-up is suggested because there are no certain clues about the true potential of this tumor. (Endocr Pract. 2010;16:641-645)     

Malignant Pheochromocytoma Secreting Vasoactive Intestinal Peptide and Response to Sunitinib: A Case Report and Literature Review

ObjectiveMalignant pheochromocytoma is rare and may be sporadic or have a genetic basis. Vasoactive intestinal peptide (VIP)-secreting pheochromocytoma has rarely been described in the literature, and treatment remains challenging in the absence of well-controlled randomized trials. The hypoxia-inducible factor – vascular endothelial growth factor axis has been implicated in pheochromocytoma when associated with germline Von-Hippel-Lindau (VHL) or succinate dehydrogenase (SDH) mutations, suggesting potential clinical activity of sunitinib in this setting.MethodsWe present a case report of a patient with a VIP-secreting malignant pheochromocytoma manifested as severe watery diarrhea, with an exquisite clinical response to sunitinib. We review this rare clinical entity and the potential role of sunitinib in this context.ResultsA 51-year-old male initially presented with a pheochromocytoma causing symptoms related to norepinephrine excess. He underwent adrenalectomy, which resulted in complete resolution of his symptoms. Three years later, he developed multifocal metastatic disease from his primary tumor, showing immunohistochemical evidence of VIP production accompanied by severe watery diarrhea and hypokalemia. The patient had a rapid, complete, and durable clinical response to sunitinib, but with only a minor radiological response and without significant toxicity. Genetic testing was negative for germline mutations in VHL, SDHB, SDHC, SDHD, transmembrane protein 127 (TMEM127) and for neurofibromatosis type 1 (NF-1).ConclusionTo the best of our knowledge, this is the first report of a case of malignant VIP-producing pheochromocytoma that was responsive to sunitinib.     

以急性心肌梗死为首发表现的肾病综合征1例及文献复习

目的:肾病综合征患者,较少出现并发动脉血栓,尤其少以动脉栓塞作为首发表现,结合汇报我院1例以急性心肌梗死为首发表现的肾病综合征患者的诊疗过程,探讨此类病人的诊治方法及预防措施.方法:报告中国人民解放军北京军区总医院1例以急性心肌梗死为首发表现的肾病综合征病例,汇报其临床资料、诊疗过程等并复习相关文献,对其临床表现、诊断、治疗及预后进行分析,并总结治疗经验,提出防治措施.结果:1例以急性心肌梗死为首发表现的肾病综合征患者经治疗病情好转后出院,出院后继续肾病综合征治疗,目前患者恢复良好.结论:肾病综合征患者,因为自身存在高凝状态,其引起静脉血栓较为常见,而引发动脉栓塞并不多见,以冠脉栓塞并为首发表现尤为少见,极易误诊或漏诊,在临床工作中应该引起足够重视.     

Cola-Induced Hypokalemia-a Case Report and Review of the Literature

ObjectiveWe aim to describe an unusual and underappreciated cause for hypokalemia.MethodsWe describe a patient diagnosed with cola-induced hypokalemia and review the literature.ResultsIngestion of massive amounts of cola can lead to severe hypokalemia through several pathophysiologic mechanisms. These perturbations include osmotic diarrhea, osmotic diuresis, and hyperinsulinemia secondary to hyperglycemia with resultant intracellular to cellular shifts in potassium. These effects are magnified by concomitant high levels of caffeine.ConclusionIngestion of large quantities of cola should be added to differential diagnosis for severe hypokalemia. (Endocr Pract. 2013;19:e21-e23)     

Aspergillus tubingensis Endocarditis: A Case Report and Review of the Literature

Mycopathologia - Aspergillus endocarditis is a rare infection that may affect immunocompetent patients following heart valve replacement or heart surgery. We report the case of a 39 year...     

Mycetoma in China: A Case Report and Review of the Literature

Mycopathologia - Mycetoma is a chronic granulomatous infectious disease that can affect the skin, subcutaneous tissue, fascia and bone. It can be caused by filamentous bacteria or fungi and usually...