Posterior microphthalmos,retinitis pigmentosa,and foveoschisis caused by a mutation in the MFRP gene: a familial study

Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family.

Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing.

Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25).

Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.     

Dynamic correction for forefoot varus in stage II-A adult flatfoot: Technique tip

Posterior tibial tendon dysfunction (PTTD) is a progressive disorder and a common cause of adult acquired flatfoot deformity, and forefoot varus is a frequent component in advanced cases. The author proposes peroneus brevis-to-longus transfer as an additional step to correct the forefoot varus component of stage II-A posterior tibial tendon dysfunction. We have performed this dynamic correction of forefoot varus in 12 patients at our institution, and observed promising clinical and radiographic improvement. It is a soft tissue procedure that avoids additional incisions and represents a favorable alternative to more demanding techniques, such as osteotomy or arthrodesis.     

子宫下段后壁防波堤样缝合术对前置胎盘合并胎盘植入手术的止血效果分析

目的探讨子宫下段后壁防波堤样缝合术对前置胎盘合并胎盘植入手术的止血效果。方法100例前置胎盘合并胎盘植入手术患者,按治疗方法不同分为对照组和研究组,各50例。对照组行常规缝合联合宫颈环扎进行止血,研究组行子宫下段后壁防波堤样缝合术进行止血。比较两组术中出血量、手术时间、产后2及24 h出血量、住院时间,恶露持续时间、子宫复旧时间,新生儿体质量及1、5 min Apgar评分。结果研究组术中出血量及产后2、24 h出血量均少于对照组,手术时间及住院时间均短于对照组,差异具有统计学意义(P<0.05)。两组新生儿体质量及1、5 min Apgar评分比较差异均无统计学意义(P>0.05)。研究组恶露持续时间(40.50±12.50)d、子宫复旧时间(6.20±1.20)个月均短于对照组的(49.35±14.35)d、(7.50±2.30)个月,差异具有统计学意义(P<0.05)。结论前置胎盘合并胎盘植入手术中应用子宫下段后壁防波堤样缝合术的效果显著,能够缩短各项指标时间,减少手术出血量,且不影响新生儿体质量及Apgar评分,值得推广。     

Home particle repositioning maneuver to prevent the recurrence of posterior canal BPPV

Objective

To check the value of home particle repositioning maneuver in the prevention of the recurrence of posterior canal benign paroxysmal positional vertigo (pc-BPPV).

Bioglass reconstruction of posterior meatal wall after canal wall down mastoidectomy

Background

Canal wall down (CWD) mastoidectomy has many drawbacks including chronic otorrhea, granulations, dizziness on exposure to cold or hot water and tendency of debris accumulation in the mastoid cavity demanding periodic cleaning. Many of these problems can be solved by reconstruction of the posterior meatal wall (PMW).

Multidisciplinary management of posterior fossa dural arteriovenous fistula: A single-center experience

PurposeThe management of posterior fossa dural arteriovenous fistulas (pfDAVFs) is challenging. Here, we show how multidisciplinarity leads to their successful management, even in complex cases.MethodsAll pfDAVFs managed from 2010 to 2019 at our center were reviewed. The preoperative clinical and radiological characteristics, their management and the occlusion rate were retrieved. The radiological and functional outcomes were retrieved at discharge and last follow-up (FU).Resultsn = 27 patients were included (6 females, mean age: 61-years-old, mean FU: 22.5 months). n = 8 patients presented with cerebral hemorrhage. Among patients with ruptured pfDAVFs, n = 7 had headache, n = 4 had ataxia, and n = 2 had impaired level of consciousness. In the unruptured group N (n = 19), n = 7 patients had headache, n = 6 patients had focal neurological deficit, n = 4 patients had tinnitus, n = 3 (had ataxia, and one presented with seizure. n = 24 patients were treated by endovascular therapy (EVT), n = 2 patients were treated by microsurgery (MS) and n = 1 patient was managed with a combined approach. Re-treatment was necessary in n = 6 patients. n = 24 patients showed total exclusion at last FU. n = 2 patients died during the first 30 days; n = 1 patient died during FU.ConclusionsWhile EVT should be advocated as the first line therapy whenever possible, MS should not be banned from the treatment armamentarium. Neurosurgeons must be able to achieve direct surgical occlusion when the angioarchitecture speaks against EVT.     

顶椎区多棒矫形联合远端脊柱后柱截骨治疗重度特发性脊柱侧凸的疗效分析

目的 探讨顶椎区多棒矫形联合远端脊柱后柱截骨术（posterior column osteotomy,PCO）治疗重度特发性脊柱侧凸的临床疗效及安全性。方法 回顾性分析我院2014年2月至2020年2月行后路手术、随访时间超过2年的重度特发性脊柱侧凸（Cobb角≥90°）病人共48例,所有病人均行远端PCO截骨,依据矫形情况分为顶椎区多棒矫形组（21例）和传统双棒矫形组（27例）,在术前、术后和末次随访时进行影像学和脊柱侧凸研究学会-22简明量表调查问卷（Scoliosis Research Society questionnaires-22,SRS-22）评估,比较两组的影像学参数、手术时间、出血量和并发症等,分析其疗效和安全性。结果 双棒矫形组随访（37.2±8.8）个月,多棒矫形组随访（31.6±7.6）个月。传统双棒矫形组手术时间为（430.8±79.1） min,长于多棒矫形组的（331.2±97.3） min,差异有统计学意义（P=0.037）。两组病人术后冠状面和矢状面参数均较术前显著改善,差异有统计学意义（P＜0.05）。末次随访时,多棒矫形组的矢状面矫形丢失显著高于双棒矫形组（3.7°±0.9° vs. 2.3°±1.0°）,椎弓根螺钉拔出发生率显著低于双棒矫形组（4.8% vs. 29.6%）,差异有统计学意义（P＜0.05）。结论 与传统双棒比较,顶椎区多棒矫形技术联合远端PCO截骨具有相似的矫形效果,手术流程更简便,术中螺钉拔出率低,对于重度特发性脊柱侧凸,是一种安全有效的手术方法,但矢状面矫形丢失需要长期随访关注。