Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course and possible differences between the causative genes remain unknown. In all, 247 individual records for patients with GACI (from birth to 58.3 years of age) across 19 countries were reviewed. Overall mortality was 54.7% (13.4% in utero or stillborn), with a 50.4% probability of death before the age of 6 months (critical period). Contrary to previous publications, we found that bisphosphonate treatment had no survival benefit based on a start-time matched analysis and inconclusive results when initiated within 2 weeks of birth. Despite a similar prevalence of GACI phenotypes between ENPP1 and ABCC6 deficiencies, including arterial calcification (77.2% and 89.5%, respectively), organ calcification (65.8% and 84.2%, respectively), and cardiovascular complications (58.4% and 78.9%, respectively), mortality was higher for ENPP1 versus ABCC6 variants (40.5% versus 10.5%, respectively; p = 0.0157). Higher prevalence of rickets was reported in 70.8% of surviving affected individuals with ENPP1 compared with that of ABCC6 (11.8%; p = 0.0001). Eleven affected individuals presenting with rickets and without a GACI diagnosis, termed autosomal recessive hypophosphatemic rickets type 2 (ARHR2), all had confirmed ENPP1 variants. Approximately 70% of these patients demonstrated evidence of ectopic calcification or complications similar to those seen in individuals with GACI, which shows that ARHR2 is not a distinct condition from GACI but represents part of the spectrum of ENPP1 deficiency. Overall, this study identified an early mortality risk in GACI patients despite attempts to treat with bisphosphonates, high prevalence of rickets almost exclusive to ENPP1 deficiency, and a spectrum of heterogenous calcification and multiple organ complications with both ENPP1 and ABCC6 variants, which suggests an overlapping pathology. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR). This article has been contributed to by US Government employees and their work is in the public domain in the USA.     

Dorsal Chopart’s fracture dislocation – A rare injury

A rare case of Dorsal Chopart’s fracture dislocation after a fall from height is presented. It combines the features of pure dorsal Chopart’s dislocation and the longitudinal swivel variant described by Main and Jowett presenting as dorsomedial fracture dislocation of the medial three fourths of the navicular, crushing the lateral one fourth. The possible mechanism of injury has been described. It has been successfully treated with closed reduction and percutaneous k-wire fixation. At two-year follow-up the patient was asymptomatic, back to his moderately active work.     

Contralateral prophylactic mastectomy: A narrative review of the evidence and acceptability

The uptake of contralateral prophylactic mastectomy (CPM) has increased steadily over the last twenty years in women of all age groups and breast cancer stages. Since contralateral breast cancer is relatively rare and the breast cancer guidelines only recommend CPM in a small subset of patients with breast cancer, the drivers of this trend are unknown. This review aims to evaluate the evidence for and acceptability of CPM, data on patient rationales for choosing CPM, and some of the factors that might impact patient preferences. Based on the evidence, future recommendations will be provided. First, data on contralateral breast cancer risk and CPM rates and trends are addressed. After that, the evidence is structured around four main patient rationales for CPM formulated as questions that patients might ask their surgeon: Will CPM reduce mortality risk? Will CPM reduce the risk of contralateral breast cancer? Can I avoid future screening with CPM? Will I have better breast symmetry after CPM? Also, three different guidelines regarding CPM will be reviewed. Studies indicate a large gap between patient preferences for radical risk reduction with CPM and the current approaches recommended by important guidelines. We suggest a strategy including shared decision-making to enhance surgeons’ communication with patients about contralateral breast cancer and treatment options, to empower patients in order to optimize the use of CPM incorporating accurate risk assessment and individual patient preferences.     

Neglected medial swivel dislocation of talonavicular joint with calcaneus,cuboid and 5th metatarsal fractures – A case report

Talonavicular dislocation is a rare injury. Isolated medial or lateral talonavicular dislocations without disruption of subtalar joint are known as medial or lateral swivel dislocations respectively, both being extremely rare. We describe a rare case of neglected medial swivel dislocation with concomitant calcaneus, cuboid and 5th metatarsal fracture, which was managed with open reduction and fixation of talonavicular joint with k-wires and an external distractor. At 1 year follow up the patient was mobilizing full weight bearing without any pain or deformity, the radiographs showing well located talonavicular joint and healed calcaneus, cuboid and 5th metatarsal fractures. This is the first reported case of medial swivel talonavicular dislocation with associated calcaneum, cuboid and 5th metatarsal fracture to the best of our knowledge. This case report highlights the importance of maintaining high level of suspicion for diagnosing midfoot injuries in a polytraumatized patient as well as need of accurate and timely reduction of dislocation for good functional outcome.Level of clinical evidenceLevel 4.     

Methods to address metal artifacts in post-processed CT images – A do-it-yourself guide for orthopedic surgeons

Computed tomography (CT) scans are often used for postoperative imaging in orthopedics. In the presence of metallic hardware, artifacts are generated, which can hamper visualization of the CT images, and also render the study ineffective for 3-D printing. Various solutions are available to minimize metal artifacts, and radiologists can employ these before or after processing the CT study. However, the orthopedic surgeon may be faced with situations where the metal artifacts were not addressed. To counter such problems, we present three do-it-yourself (DIY) techniques that can be used to manage metal artifacts.     

3种抗肿瘤有毒蒙药的研究进展

随着社会发展和生活水平的提高,恶性肿瘤已经成为影响人类健康的重大疾病之一。有毒蒙药在治疗疾病及救治疑难杂症中具有重要作用。多种有毒蒙药有一定的抗肿瘤作用,且有着良好的治疗效果,但由于其本身的毒性,使其在临床上的应用受到很大的限制。蒙医在实践中不断摸索出有毒蒙药的多种减毒方法,如采用配伍、炮制等减毒手段进行处理,以达到降低毒性、提高疗效的作用。通过对3种代表性有毒蒙药斑蝥Mylabris、草乌Aconiti Kusnezoffii Radix、瑞香狼毒Stellerae Chamaejasmes Radix的抗肿瘤作用、毒性机制及减毒策略进行综述,为其临床用药及新药开发提供依据。     

人工骨和自体骨在复杂跟骨骨折异形钢板内固定术中的病例对照研究

目的 :比较人工骨与自体骨在复杂跟骨骨折异形钢板内固定术中的临床疗效。方法:自2015年4月至2019年4月收治60例复杂跟骨骨折患者行切开复位异形钢板内固定术治疗,按照植骨材料不同分为试验组和对照组,每组30例。试验组男21例,女9例;年龄18～71(36.85±7.42)岁;SandersⅢ型19例,SandersⅣ型11例;采用人工骨植入。对照组男23例,女7例,年龄20～69(37.26±7.38)岁;SandersⅢ型18例,SandersⅣ型12例;采用自体骨植入。比较两组患者手术时间、术中出血量、术后切口干燥时间、愈合时间及并发症情况,比较术前及术后3个月B?hler角及Gissane角变化情况,采用Maryland评分评价患足功能恢复情况。结果:两组患者术后均获得随访,时间3～15(10.15±2.67)个月。试验组手术时间、术中出血量分别为(89.32±12.43) min、(101.64±5.13) ml,对照组分别为(112.45±13.82) min、(119.01±5.26) ml,两组比较差异有统计学意义(P0.05);两组术后切口干燥时间、愈合时间、并发症比较差异无统计学意义(P0.05)。试验组术前、术后3个月B?hler角分别为(14.19±2.47)°、(34.52±4.41)°,对照组分别为(14.08±2.35)°、(33.67±4.36)°;试验组术前及术后3个月Gissane角分别为(90.16±6.43)°、(131.45±9.83)°,对照组分别为(90.11±6.37)°、(130.87±9.24)°;两组术后3个月B?hler角、Gissane角与术前比较差异有统计学意义(P0.05);但两组术后3个月B?hler角、Gissane角比较差异无统计学意义(P0.05)。末次随访时,两组Maryland评分各项目评分、总分及优良率比较差异无统计学意义(P0.05)。结论:在复杂跟骨骨折异形钢板内固定术中,采用人工骨和自体骨在促进骨折恢复方面效果相当,且术后切口干燥时间、愈合时间及并发症发生情况相近,但使用人工骨可减少术中出血量,缩短手术时间。     

补肾活血汤联合手法复位小夹板固定治疗老年肱骨近端骨折患者的临床效果

目的:探讨补肾活血汤联合手法复位小夹板固定治疗老年肱骨近端骨折患者的疗效及对肢体功能的影响。方法:选择2018年5月—2020年1月我院收治的老年肱骨近端骨折患者84例,随机分为对照组和观察组,各42例。对照组采用手法复位小夹板固定治疗,观察组在对照组基础上联合补肾活血汤治疗,治疗4周后对患者效果进行评估,比较两组骨折愈合效果、肢体功能、骨折愈合时间、视觉模拟疼痛(VAS)评分、肩关节评分系统Constant-Murley(C-M)评分及治疗预后。结果:治疗4周后,观察组的优良率为92.86%,高于对照组71.43%;观察组的旋前度(88.68±7.56)°、背伸度(89.41±2.43)°、桡偏角度(15.39±2.15)°、掌屈度(42.35±4.61)°及旋后度(80.45±5.98)°均大于对照组[旋前度(81.32±6.42)°、背伸度(68.98±2.35)°、桡偏角度(12.19±2.05)°、掌屈度(45.72±5.32)°及旋后度(84.36±6.01)°],差异有统计学意义(P<0.05);观察组治疗2周、4周后的VAS评分分别为(3.11±0.38)分、(1.09±0.21)分,骨折愈合时间为(6.49±0.63)周,均低(短)于对照组2周、4周的VAS评分[(4.59±0.43)分、(3.21±0.33)分]及骨折愈合时间[(9.64±0.81)],差异有统计学意义(P<0.05);观察组治疗4周后的畸形愈合、骨折不愈、股骨头坏死、感染及跛行发生率均低于对照组(P<0.05)。结论:补肾活血汤联合手法复位小夹板固定用于老年肱骨近端骨折患者中能提高骨折愈合率,改善患者肢体功能,缩短骨折愈合时间,减轻患者疼痛,改善预后,值得推广应用。