De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

BackgroundThe collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.Case reportWe report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge.ResultsTargeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy.ConclusionsThis case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.     

Severe lumbar spinal stenosis combined with Guillain-Barré syndrome: A case report

BACKGROUNDGuillain-Barré syndrome (GBS) is a rare disorder that typically presents with ascending weakness, pain, paraesthesias, and numbness, which mimic the findings in lumbar spinal stenosis. Here, we report a case of severe lumbar spinal stenosis combined with GBS.CASE SUMMARYA 70-year-old man with a history of lumbar spinal stenosis presented to our emergency department with severe lower back pain and lower extremity numbness. Magnetic resonance imaging confirmed the diagnosis of severe lumbar spinal stenosis. However, his symptoms did not improve postoperatively and he developed dysphagia and upper extremity numbness. An electromyogram was performed. Based on his symptoms, physical examination, and electromyogram, he was diagnosed with GBS. After 5 d of intravenous immunoglobulin (0.4 g/kg/d for 5 d) therapy, he gained 4/5 of strength in his upper and lower extremities and denied paraesthesias. He had regained 5/5 of strength in his extremities when he was discharged and had no symptoms during follow-up.CONCLUSIONGBS should be considered in the differential diagnosis of spinal disorder, even though magnetic resonance imaging shows severe lumbar spinal stenosis. This case highlights the importance of a careful diagnosis when a patient has a history of a disease and comes to the hospital with the same or similar symptoms.     

Prostatic Artery Embolization—Anatomic Predictors of Technical Outcomes

PurposeTo determine if cone-beam CT and digital subtraction angiography analysis of pelvic arterial anatomy has predictive value for radiation exposure and technical success of prostatic artery embolization (PAE).Materials and MethodsThis prospective, nonrandomized, single-center study included 104 consecutive patients with lower urinary tract symptoms secondary to benign prostatic hyperplasia. Cone-beam CT was performed in 160/208 (76.9%) hemipelves to determine prostatic artery (PA) origin. Classification of pelvic arterial tortuosity was possible in 73/104 (70.2%) patients. Learning curves of 2 interventionalists who performed 86.5% of PAEs were analyzed.ResultsTortuosity of pelvic arteries was classified as mild in 25 (34.2%) patients median age 64 years, moderate in 40 (54.8%) patients median age 69 years, and severe in 8 (11.0%) patients median age 70 years (mild vs moderate, P = .002; mild vs severe, P = .019); median fluoroscopy times were 24, 36, and 46 minutes (P = .008, P = .023); median contrast volumes were 105, 122.5, and 142 mL (P = .029, P = .064); and bilateral PAE rates were 84.0%, 77.5%, and 62.5% (P = .437), respectively. PA origin from superior vesical artery was most frequent (27.5%) and showed higher dose area product (median 402.4 vs 218 Gy ∙ cm², P = .033) and fluoroscopy time (median 42.5 vs 27 min, P = .01) compared with PA origin from obturator artery, which was least frequent. Interventionalist experience revealed significant impact on procedure times (median 159 vs 130 min, P = .006).ConclusionsTortuosity of pelvic arteries was more frequent in older patients and predicted worse technical outcomes of PAE. PA origin from obturator artery was associated with lower dose area product and fluoroscopy time, especially compared with PA origin from superior vesical artery. Interventionalist experience showed significant influence on technical outcome.     

不同手术方案对脊髓型颈椎病合并椎管狭窄症患者术后疗效及颈椎矢状位参数的影响

目的探讨前路椎体次全切除术和后路椎管扩大椎板成形术对脊髓型颈椎病(CSM)合并椎管狭窄症患者术后疗效及颈椎矢状位参数的影响。方法回顾性分析2010年3月—2015年8月收治的147例CSM合并椎管狭窄症患者的临床资料,其中80例行前路椎体次全切除术治疗(A组),67例行后路椎管扩大椎板成形术治疗(B组)。比较2种手术方法治疗前后日本骨科学会(JOA)评分、Cobb角及矢状位垂直距离(SVA)。将2组患者根据T_1倾斜角分别分为高T_1倾斜角(≥25°)亚组和低T_1倾斜角( 25°)亚组,对不同亚组之间的疗效及手术安全性进行比较。结果 2组术后JOA评分和Cobb角均高于术前,差异有统计学意义(P 0.05)。A组术后SVA低于术前,差异有统计学意义(P 0.05),B组术后SVA与术前相比差异无统计学意义(P 0.05)。A组术后JOA评分和Cobb角均高于B组,SVA低于B组,差异均有统计学意义(P 0.05)。A组中,高T_1倾斜角亚组和低T_1倾斜角亚组JOA评分改善效果和后凸畸形发生率比较差异无统计学意义(P 0.05);B组中,低T_1倾斜角亚组JOA评分改善效果和后凸畸形发生率优于高T_1倾斜角亚组,差异均有统计学意义(P 0.05)。结论相较于后路椎管扩大椎板成形术,前路椎体次全切除术治疗CSM合并椎管狭窄症临床疗效更佳,且有助于改善颈椎矢状位平衡;在高T_1倾斜角水平下,应尽可能选择前路椎体次全切除术。     

Pediatric cardiac computed tomography angiography: Expert consensus from the Filiale de Cardiologie Pédiatrique et Congénitale (FCPC) and the Société Française d’Imagerie Cardiaque et Vasculaire diagnostique et interventionnelle (SFICV)

This article was designed to provide a pediatric cardiac computed tomography angiography (CCTA) expert panel consensus based on opinions of experts of the Société Française d’Imagerie Cardiaque et Vasculaire diagnostique et interventionnelle (SFICV) and of the Filiale de Cardiologie Pédiatrique Congénitale (FCPC). This expert panel consensus includes recommendations for indications, patient preparation, CTA radiation dose reduction techniques, and post-processing techniques. The consensus was based on data from available literature (original papers, reviews and guidelines) and on opinions of a group of specialists with extensive experience in the use of CT imaging in congenital heart disease. In order to reach high potential and avoid pitfalls, CCTA in children with congenital heart disease requires training and experience. Moreover, pediatric cardiac CCTA protocols should be standardized to acquire optimal images in this population with the lowest radiation dose possible to prevent unnecessary radiation exposure. We also provided a suggested structured report and a list of acquisition protocols and technical parameters in relation to specific vendors.     

腹腔镜下子宫双侧动脉阻断术联合清宫术治疗剖宫产瘢痕妊娠疗效分析

目的 探讨腹腔镜下子宫双侧动脉阻断术联合清宫术治疗剖宫产瘢痕妊娠疗效及对内分泌的影响.方法 选择2011年1月至2015年12月剖宫产瘢痕妊娠患者57例,其中A组32例患者给予超声引导下清宫术治疗,B组25例患者给予腹腔镜下子宫双侧动脉阻断术联合清宫术治疗,比较两组患者出血量、住院时间、月经复潮时间、术后人绒毛膜促性腺激素(hCG)降至正常时间,并发症情况及术前(T0)、术后第1d(T1)、第3d(T2)神经内分泌激素水平.结果 ①B组患者出血量低于A组,住院时间、月经复潮时间短于A组,比较差异有统计学意义(t出血量=31.85,k院时间=9.36,t月经复t潮时间=16.37,均P＜0.05);②B组患者并发症发生率为8.00％,低于A组的15.63％,比较差异有统计学意义(x2=9.35,P＜0.05);③B组T1、T2血清COR、β-EP、GLU水平低于A组(CORF交互=17.67,β-EPF交互=132.36,6LUF交互=155.38,均P＜0.05).结论 腹腔镜下子宫双侧动脉阻断术联合清宫术治疗剖宫产瘢痕妊娠微创优势明显,安全性高,对内分泌影响较轻.     

高渗盐水和甘露醇在动脉瘤性蛛网膜下腔出血患者降低颅内压中的应用

目的比较3%高渗盐水和20%甘露醇治疗重症动脉瘤性蛛网膜下腔出血所致颅内压增高的疗效.方法25例动脉瘤性蛛网膜下腔出血患者出现颅内压增高事件时, 随机交替接受等渗透剂量的160 mL 3%高渗盐水与150 mL 20%甘露醇进行降低颅内压治疗, 连续监测患者颅内压、平均动脉压、脑灌注压及中心静脉压.记录有效降低颅内压持续时间、颅内压最大降幅及其时间, 用药前及用药后1 h、3 h血钠水平及血浆渗透压.结果3%高渗盐水和20%甘露醇均可降低颅内压(均 P < 0.01), 两者的降低颅内压作用持续时间及颅内压降幅差异均无统计学意义(均 P >0.05).患者脑灌注压较用药前均上升(均 P < 0.01), 平均动脉压先上升后下降, 但差异无统计学意义( P >0.05).患者中心静脉压稍有波动, 但差异均无统计学意义(均 P >0.05).20%甘露醇治疗后患者血钠下降, 3%高渗盐水治疗后患者血钠值上升, 变化均有统计学意义(均 P < 0.05).20%甘露醇及3%高渗盐水治疗后患者血浆渗透压均先上升后下降, 变化均有统计学意义(均 P < 0.01). 结论3%高渗盐水可作为治疗动脉瘤性蛛网膜下腔出血所致颅内压增高患者的一线治疗药物.