Cohen综合征并文献复习

目的探讨VPS13B基因突变所致Cohen综合征患儿的临床特征及诊断特点，并进行相关文献复习，为Cohen综合征遗传咨询和诊断提供参考。 方法选择2019年1月，于中山大学孙逸仙纪念医院儿科确诊为Cohen综合征的2例患儿(患儿1、2)为研究对象。采用回顾性分析方法，收集2例患儿的临床病例资料，并对其病史采集、相关检查结果进行分析。以"Cohen综合征""Cohen syndrome"为关键词，检索在线人类孟德尔遗传数据库(OMIM)、PubMed数据库、中国生物医学文献服务系统(SinoMed)、中国知网(CNKI)、万方数据知识服务平台、维普中文科技期刊数据库中Cohen综合征相关文献，检索时间设定为1973年1月1日至2019年1月1日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求，并且征得受试儿家属(父亲、母亲及表叔)知情同意。 结果①患儿1病史采集：男性，4岁3个月，主要临床表现为精神运动发育落后、小头畸形和身材矮小。相关检查结果：血常规检查结果提示中性粒细胞计数减少；听性脑干反应(ABR)检查提示左侧听觉传导通路损伤，双侧听觉反应阈值可疑范围；双眼视觉诱发电位(VEP)检查未见异常；脑电图正常；头颅MRI平扫提示双侧额部脑外间隙稍增宽；全脊柱正侧位X射线摄片提示右侧轻度髋发育不良伴右髋关节半脱位可能；腰椎轻度左侧弯，疑为双髋关节不对称所致；心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。②患儿2病史采集结果：患儿1胞弟，男性，1岁4个月，亦表现为精神运动发育落后，小头畸形和身材矮小。相关检查结果：双耳ABR正常；VEP检查提示右眼F-VEP P2波潜伏期稍延迟，振幅正常；脑电图正常；头颅MRI平扫未见异常；全脊柱正侧位X射线摄片、心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。③患儿1、2遗传性疾病大家系全外显子组检测提示，2例患儿均携带VPS13B基因2个杂合病理性突变，即VPS13B[8q22 NM_017890.4 Intron50 c．9259-1G>C][8q22 NM_017890.4 Exon57 c．11104_11105de1]基因突变，这2个基因突变位点目前均尚未见文献报道。 结论Cohen综合征为一种罕见常染色体隐性遗传性疾病。临床上对于特殊面容、生长发育落后、高度近视、弱视和色素性视网膜病变伴中性粒细胞减少症的患儿，应考虑到Cohen综合征的可能性，并进行基因检测，以及时确诊Cohen综合征。     

Lipomatous meningioma: report of two cases and review of the literature

Lipomatous meningioma is a benign tumor characterized either by an admixture of mature adipocytes and meningioma or the production of triglycerides by neoplastic meningothelial cells assuming a lipoblast-like appearance. The authors report on two instances of this exceedingly rare lesion occurring in the left middle cranial fossa and over the right frontal convexity of two female patients aged 79 years and 60 years, respectively. In the former, the tumor was an incidental autopsy finding, while the latter underwent surgery for symptoms of intracranial space occupation. Light microscopy showed interwoven islands of fatty tissue and transitional meningioma in the first case; whereas a monomorphous signet-ring cell phenotype prevailed in the second. Oil-Red-O staining confirmed the presence of neutral fat in both specimens. Immunohistochemical coexpression of epithelial membrane antigen, vimentin, and S100 protein supported the meningothelial origin of tumor cells. On the other hand, the CD 68 macrophage antigen was not detected. Cytoplasmic lipid droplets along with hallmarks of meningothelial differentiation were visualized ultrastructurally in part of the meningioma component of the first case and throughout the second. These findings are consistent with a metaplastic origin of the adipocytic element. Whatever its histogenesis, lipomatous meningioma may, on occasion, represent a major challenge with therapeutic implications for both preoperative imaging and histological diagnosis.     

Phosphine toxicity: report of two cases and review of the literature

Aluminum phosphide is a commonly used fumigant in the agricultural community. This article reviews the toxic effects of phosphine on the lungs and central nervous system in two workers and reviews the available scientific literature. Education for prevention of exposure and more frequent monitoring for exposure are recommended.     

Intradiploic hematoma: report of two cases and review of literature

Diploic hematoma is an uncommon lesion which develops generally after minor head trauma. Only seven cases have been published so far and we are reporting two new cases of diploic hematoma in infancy. The diagnosis was made by computerized tomography and confirmed by histology. Diploic hematoma should be considered as part of the differential diagnosis in case of with a diploic lesion.     

Tubo-ovarian actinomycosis. A report of two cases and literature review

Actinomycosis is an infection due to an anaerobic Gram-positive bacilus bacteria: Actinomyces. Tubo-ovarian locallisation is rare. It more often appears clinically as a pseudo-tumoral and feverish syndrom, evoking wrongly a malignant tumoral pathology, and often leads to a mutilating surgical treatment. Intra-uterine device appears as the principal favorable factor of this pathology. Basing on two cases reported by the authors, and after literature review, physiopathology, clinical and paraclinical expression, and treatment of this affection are discussed. A set up is made.     

Solitary pleural fibroma: report of two cases and review of the literature]

The pleural fibroma is an uncommon tumor of pleura. Its Diagnosis is guided by chest imaging and confirmed by surgery and histological exam. We respectively report two observations of solitary pleural fibroma in 68 and 27 old years patients. The authors expose the circumstances of discovery and present clinical features, diagnosis explorations and therapeutical methods. Prognosis depends primary on histological findings and malignant recurrences are possible.     

Protothecosis: A report of two cases in Japan and a review of the literature

Protothecosis is an emerging opportunistic infection caused by species belonging to the genus Prototheca. Two Japanese cases of protothecosis are documented with a critical review of the literature. A current perspective concerning the microbiology and disease entity of protothecosis is described in detail.     

Sacral insufficiency fractures: a report of two cases and a review of the literature

Sacral insufficiency fractures (SIF) are a type of stress fracture that occur primarily in postmenopausal women. They were first described in 1982 by Lourie and have since been frequently overlooked as a cause of low back, buttock, or groin pain. We present two cases of SIF to demonstrate the clinical presentation, diagnosis, and treatment of patients with SIF. Both patients were elderly women with complaints of pelvic and low back pain in the absence of significant trauma. Physical examination was significant for marked sacral tenderness. Diagnostic imaging supported the diagnosis of SIF. Both patients underwent early rehabilitation, including early ambulation, and had good functional outcomes. These patients serve to illustrate how conservative treatment yields excellent clinical results in the majority of patients, with most reporting improvement within 1-2 weeks after fracture and complete resolution of symptoms after 6-12 months of treatment.     

原发性子宫颈恶性黑色素瘤2例临床分析及文献复习

目的 探讨原发性子宫颈恶性黑色素瘤的临床表现、病理特征、诊治方法及预后.方法 回顾性分析2例经手术及病理证实的原发性宫颈恶性黑色素瘤患者的临床诊治及病理资料.结果 2例患者均行根治性手术,免疫组化均提示HMB45及S-100阳性.术后分别给予Avastin抑制肿瘤新生血管生成治疗1次及3次,并分别随访9个月及10个月均无复发症状.结论 HMB45及S-100对诊断恶性黑色素瘤有意义,手术治疗联合辅助治疗可改善其预后.     

Renal amyloidosis complicating Crohn's disease: report of two cases and review of literature

Secondary amyloidosis is caused by the extracellular store of the fragment AA of the circulatory protein in serum amyloid-A. It can complicate diseases such as family mediterranean fever, rheumatoid arthritis or Crohn's disease. Renal amyloidosis is a rare but serious complication of Crohn's disease. We report two cases of Crohn's disease associated with a nephrotic syndrome due to renal amyloidosis. It is important to recognize this complication, especially since Colchicine has been proposed as a possible treatment. So, the search for proteinuria seems to be important for an early diagnosis of renal amyloidosis in Crohn's disease.     

儿童X连锁血小板减少症3例及文献复习

目的分析3例X连锁血小板计数减少症(XLT)患儿的临床和分子遗传学特征,提高该病的临床诊断水平。 方法选择2012年1月至2014年5月于四川大学华西第二医院确诊为XLT的3例患儿为研究对象。本研究遵循的程序符合四川大学华西第二医院人体试验委员会所制定的伦理学标准,得到该委员会批准,分组征得受试对象监护人的知情同意,并与之签署临床研究知情同意书。结合国内外文献复习,对本组经WAS基因突变分析确诊的3例XLT患儿的临床特征和基因型进行回顾性分析。 结果3例(100.0%)XLT患儿均为男性,反复血小板计数减少为最突出临床表现,无阳性家族史,其确诊前均被误诊为原发性免疫性血小板减少症(ITP),使用糖皮质激素和静脉注射用免疫球蛋白(IVIG)治疗效果不佳,血小板计数持续减少。WAS基因分析证实患儿1和患儿3存在c.1378C>T错义突变,患儿2为c.256C>T错义突变,3例患者母亲均为相应突变基因携带者(100.0%)。 结论XLT为WAS的临床类型之一,以慢性或间歇性小血小板性血小板计数减少为显著临床特征,易于误诊为ITP。儿科医师对婴幼儿期起病的血小板计数减少的男性患儿应警惕XLT可能,并通过详尽病史采集、血小板计数和平均血小板体积(MPV)的动态监测,以及WAS基因突变检测,尽早明确诊断,指导临床治疗和预后评估。     

Malignant mesothelioma in Lynch syndrome: A report of two cases and a review of the literature

Malignant mesothelioma is a rare and aggressive cancer most typically associated with prior asbestos exposure. The nature of the relationship between asbestos exposure and hereditary familial syndromes predisposing to malignancy has not been determined. We report two Lynch syndrome patients with paraoccupational asbestos exposure who developed diffuse malignant mesothelioma of the pleura or peritoneum. Interestingly, one showed a separate focus of pleural well-differentiated papillary mesothelioma. It is likely that Lynch syndrome patients are at increased risk for the development of mesothelioma in the setting of exposure to asbestos, even at what is generally considered to be low levels. In the presence of a documented history of low-level asbestos exposure, patients with genetic predisposition disorders (including Lynch syndrome) should be considered to have an independent risk factor modifying the effects of asbestos exposure.     

陈旧性子宫穿孔合并输卵管嵌顿2例并文献复习

目的:探讨陈旧性子宫穿孔合并输卵管嵌顿发病原因及总结输卵管嵌顿患者临床表现、鉴别诊断及辅助检查征象。方法:回顾性分析2例陈旧性子宫穿孔合并输卵管嵌顿的病例并进行文献回顾。结果:术中见输卵管嵌顿,术后病理检查证实嵌顿组织为输卵管。结论:陈旧性子宫穿孔合并输卵管异位临床表现无特异性,对于宫腔操作的患者要行全面检查,争取早发...     

肺奴卡菌病合并曲霉感染2例并文献复习

 总结肺奴卡菌病合并曲霉感染的临床特点,提高对该疾病的诊治水平。报告2例肺奴卡菌病合并曲霉感染病例。以奴卡、曲霉组合为检索词,在万方数据库和中国知网检索到6篇中文文献;以nocardiosis、aspergillosis在PubMed、Web of Science数据库检索到17篇国外文献,进行文献复习。综合既往文献报道的病例及本组2例患者,共计27,其中男性15例,女性12例。除1例溺水者外,23例存在免疫受损,3例合并结构性肺病基础,临床特征和影像学表现均缺乏特异性;初始抗感染失败后,及时获取病原学证据,针对肺奴卡菌病和曲霉进行治疗后,大多数患者预后良好。肺奴卡菌病可能合并曲霉感染,易发生于免疫受损或结构性肺病患者,尤其是糖皮质激素使用者中,及早获取病原学结果,以获得早期诊断和治疗,对改善预后意义重大。     

Breast-milk composition in women with cystic fibrosis: report of two cases and a review of the literature

Breast milk was collected from two women with cystic fibrosis (CF) and data from the literature was reviewed. The sodium concentration was within normal limits, 11-24 mmol/L in colostrum and 7-8 mmol/L in mature milk. Normal physiologic changes in milk composition after parturition (decreases in Na and increases in lactose) and during individual feeding periods (increases in fat and decreases in protein) were observed. Concentrations of milk protein, fat, and sugars were normal when the pulmonary disease of these patients was mild. During exacerbations of pulmonary disease, the concentrations of milk macronutrients were reduced. Milk secreted by women with CF appears to be physiologically normal, safe for the infant, and breast-feeding by mothers with CF should no longer be discouraged. Variations in the macronutrient content of CF milk warrants routine monitoring of the mother with CF and the breast-fed infant, especially during exacerbations in the pulmonary aspects of this disease.