Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis

Normophosphataemic familial tumoral calcinosis, charac-terized by ectopic mineralization of skin, is caused by mutations in the SAMD9 gene located in human chromosome 7q21, next to a paralogous gene, SAMD9-like (SAMD9L). The mouse does not have a SAMD9 orthologue, Samd9, because it has been deleted during evolution owing to genomic rearrangements. It has been suggested that the mouse Samd9l gene serves as a functional paralogue of human SAMD9. In this study, we examined Samd9l knockout mice with respect to ectopic mineralization. We also crossed these mice with Abcc6(tm1JfK) mice, a model system to study pseudoxanthoma elasticum, to see whether the absence of the Samd9l gene modifies the mineralization process. Necropsy analysis of Samd9l(tm1Homy) mice revealed no evidence of ectopic mineralization, and deletion of the Samd9l gene in mice failed to modify the mineralization process on the Abcc6(tm1JfK) background. Collectively, the results suggest that mouse Samd9l is not a functional paralogue of human SAMD9.     

Congenital calcinosis cutis of the foot

Calcinosis cutis is a rare disease characterized by deposition of insoluble calcium salts in the skin. Subepidermal calcified nodule is a form of idiopathic calcinosis cutis that commonly affects children but rarely presents at birth. Herein we describe a healthy 10-month-old boy who had a solitary hard nodule on the left foot since birth. Surgical excision of the nodule was done and histopathology confirmed the diagnosis of subepidermal calcified nodule.     

特发性阴囊钙沉着症五例并文献复习

目的探讨特发性阴囊钙沉着症的临床特点及诊断治疗方案。方法对5例4个月至20年病史的特发性阴囊钙沉着症患者临床资料进行分析,并结合相关文献复习。结果本组病例多发阴囊结节,进行性增大。钙磷代谢未见异常。行阴囊肿物切除并阴囊成形术,术后病理学检查：阴囊真皮下散在嗜碱性含钙结节,病灶周围未见上皮成分。结论特发性阴囊钙沉着症是阴囊罕见的良性肿瘤,一般无明显不适,诊断主要依靠病理,手术切除后预后良好。     

钙的异常骨内沉积与甲状旁腺激素

目的探讨甲状旁腺功能减退钙的异常骨内沉积的临床和影像学表现。方法报告甲状旁腺功能减退钙的异常骨内沉积11例,对其临床表现和骨关节CT、X线检查进行分析。结果11例患者有不同程度的骨内钙质沉积。临床主要症状为手足抽搐、惊厥、癫痫等。生化检查表现为血清甲状旁腺激素浓度降低、低钙血症和高磷血症。CT和放射学表现为广泛性或局限性骨质增生硬化、弥漫性骨肥厚、骨皮质和骨小梁的骨矿物质密度增高、颅骨增厚、长骨干骺端骨密度增高、骶髂关节和髋关节骨硬化、儿童骺软骨和骺板的早期骨化、生长障碍线再现、与椎骨终板平行的“骨中骨”致密线、关节韧带和肌腱的骨化及软组织钙化等。结论骨关节CT和X线检查对甲状旁腺功能减退骨内钙质沉积的诊断与鉴别诊断很有价值。     

改良处理猪主动脉瓣钙化的实验研究

目的 研究新鲜猪主动脉瓣在体外钙沉积和幼免的皮下种植实验中钙化的情况,初步探讨这几种瓣膜鞣制剂防钙化的作用机制。方法 将新鲜的猪主动脉瓣经戊二醛（GA）、环氧氯丙烷（EC）直接处理,GA和乙醇联合处理,采用体外钙沉积和幼免皮下种植两种钙化模型对新鲜猪主动脉瓣膜GA处理、EC处理、GA和乙醇联合处理进行体外钙沉积和体内钙化实验,通过光镜和等离子吸收光谱进行钙的定性和定量分析。结果各组瓣膜钙的含量较处理前增高,GA组钙的含量最高,EC组次之,其次是GA＋乙醇处理组,新鲜瓣膜组钙含量最低,GA＋乙醇处理组较单纯GA组钙的含量明显低（P〈0．05）。在幼免的皮下种植模型中,新鲜瓣膜组的钙含量最高,其次是GA组。结论 用环氧氯丙烷直接处理生物瓣或GA处理后的生物瓣再用乙醇改性处理可以提高其抗钙化的能力,延长其使用寿命。     

钙化型腰椎间盘突出症的手术治疗

目的探讨钙化型腰椎间盘突出症的临床特点及手术疗效。方法2004年6月—2007年6月,对33例钙化型腰椎间盘突出症患者进行了手术治疗。结果经1～4年随访,根据1994年中华骨科学会脊柱学组腰背痛手术评定标准,优25例,良6例,差2例。总优良率93.9%。结论钙化型腰椎间盘突出症既有腰椎间盘突出症的普遍性,又有其特殊性,对非手术治疗无效的钙化型腰椎间盘突出症,采取手术治疗疗效满意。     

线状盘状红斑狼疮伴皮肤钙沉着症1例

报告1例线状盘状红斑狼疮伴皮肤钙沉着症。患者女,36岁。因左侧头皮,额部,颧部和颊部带状萎缩性红斑20余年,局部起白色小结节2年就诊。皮肤科检查见左侧头皮额部,颧部和颊部有一纵行的带状萎缩性红斑,表面和毛细血管扩张和粘着性鳞屑,在额部萎缩性红斑上可见一半粒绿豆大的白色小结节,质硬,实验室检查示血钙和血磷均正常。分别取萎缩性红斑和白色小结节行组织病理检查,符合盘状红斑狼疮和皮肤钙沉着症组织病理学改变。     

Fine-needle aspiration cytology of soft-tissue calcinosis presenting as an enlarging mass in the chest wall

Calcinosis cutis is an uncommon condition, and calcific deposits in patients with end-stage renal disease are now somewhat rare, due to improvement in management. Since calcific deposits may clinically resemble a tumor, it is feasible to investigate them by fine-needle aspiration cytology (FNAC). A 52-yr-old male with a history of end-stage renal failure presented with a 2-cm mass in the left chest wall. Within 6 mo the mass enlarged to nearly four times its original size. In view of clinical suspicion of malignancy, FNAC was performed. Cytopreparations showed abundant calcium, indicative of soft-tissue calcinosis. The case is interesting, since the known history of end-stage renal failure enabled the FNAC diagnosis of soft-tissue calcinosis. Diagn. Cytopathol. 1998;19:465–467. © 1998 Wiley-Liss, Inc.     

钙的冠状动脉沉着与CT

目的探讨CT检测冠状动脉钙量的技术和价值。方法对436例被检者进行胸部螺旋CT检查,心脏重建层厚3.8 mm,冠状动脉钙质沉着定义为CT值≥90 Hu,面积≥1mm2。结果436例中,冠状动脉钙质沉着109例(占25.00%),无钙质沉着327例(占75.00%)。冠状动脉钙质沉着的出现率随着年龄的增长而逐渐增加。40~49岁年龄段冠状动脉钙质沉着率为5.03%,50~59岁年龄段冠状动脉钙质沉着率为10.26%,60~69岁年龄段冠状动脉钙质沉着率为20.21%,70~79岁年龄段冠状动脉钙质沉着率为31.82%,80~89岁年龄段冠状动脉钙质沉着率为51.29%。结论CT对冠状动脉钙质沉着的诊断很有价值。     

Calcinosis cutis dermatologic toxicity associated with fibroblast growth factor receptor inhibitor for the treatment of Wilms tumor

Small‐molecule inhibitors (nibs) have revolutionized cancer therapy with the emergence of clinically efficacious treatment for advanced‐stage malignancies. Fibroblast growth factor receptor (FGFR) inhibitors have shown therapeutic efficacy in malignancies with molecular‐genetic alterations in the FGFR/fibroblast growth factor pathway. In a phase 1 clinical trial, erdafitinib, a pan FGFR inhibitor, was well tolerated with a manageable toxicity profile. Hyperphosphatemia was a frequent adverse event in patients treated with erdafitinib; however, no serious complications were observed with this therapy. Here, we report the development of calcinosis cutis dermatologic toxicity in a patient with hyperphosphatemia while treated with a novel selective FGFR inhibitor, INCB 54828‐101. Awareness of this form of dermatologic toxicity from an FGFR inhibitor will be important for close monitoring of serum levels of phosphate, FGF23, vitamin D, and calcitriol, the management of adverse serum chemistry with chelators, and treatment decisions to either reduce dose or withhold FGFR inhibitor.