肥厚型梗阻性心肌病合并心肌桥的外科治疗策略和临床结果

目的：总结肥厚型梗阻性心肌病（HOCM）合并心肌桥的患者行改良扩大Morrow术时同期心肌桥松解术的处理策略及早期结果。 方法：回顾性分析 2015年6月至2018年6月阜外医院第二住院部实施手术治疗的HOCM合并心肌桥的患者36例，男性30例（30/36，83.3%），女性6例（6/36，16.7%），年龄12-57（37.4±13.2）岁。手术前后及随访期常规行心脏超声心动图、心电图及胸部 X 线片、核磁共振检查，评价心功能、左室流出道及二尖瓣的结构和功能变化。 结果：术前出现胸闷症状者27例，胸痛症状者5例，晕厥史13例。术前左室流出道峰值压差（LVOTG）为51-120（73.1±18.6）mmHg（1mmHg=0.133kPa）。全部患者均接受改良扩大 Morrow术联合肌桥松解术，同期行冠脉旁路移植术2例，二尖瓣置换术1例，二尖瓣成形术3例，房间隔缺损修补术1例，改良迷宫手术1例。全组无术中死亡及术后30天内死亡。心肌桥的位置为前降支的患者共34例，心肌桥的位置为后降支的患者为2例，心肌桥的长度范围7-50mm，平均长度为21.8±15.5mm。术后ICU时间1-5（2.6±1.4）天，术后住院时间7-13（7.9±2.6）天，术后未见严重并发症，术后完全性左束支传导阻滞9例，术后完全性右束支传导阻滞1例。术后左室流出道峰值压差（73.1±18.6 mmHg vs 11.2±5.5 mmHg，P=0.00），室间隔厚度（19.2±4.2 mm vs 14.8±4.3mm，P=0.00）与术前比较均明显降低。术后二尖瓣反流程度较术前明显减轻（P<0.001），二尖瓣前向运动（SAM征）基本消失。本组术后随访3-52个月，平均(24.6±12.5)个月，随访患者症状均消失，心动能NYHA分级级别较术前降低I～II级，无远期死亡、并发症或再次手术。 结论 对于肥厚型梗阻性心肌病合并严重心肌桥的患者行改良扩大Morrow术时同时行心肌桥松解术是安全的。可明显改善患者的生存率及症状，起到协同作用，不增加患者的手术并发症。     

Improved pairwise kinship analysis using massively parallel sequencing

In the present study, 67 individuals from two families were analyzed to explore the efficacy of the ForenSeq^™ DNA Signature Prep Kit for pairwise kinship analysis. Six types of pairwise relationships including 81 parent-offspring, 60 full siblings, 48 grandparent-grandchildren, 147 uncle/aunt-nephew/nieces, 97 first cousins and 190 non-relatives were generated from these two families and the corresponding likelihood ratio (LR) was calculated using either sequence-based or length-based STR genotype data (i.e., LR_sequence and LR_length). In addition, 10,000 pairs of different relationships were simulated to estimate the system powers of the STRs and SNPs in this panel. The results showed that 54, 9 and 5 additional alleles were observed based on sequence for 27 autosomal STRs, 24 Y-STRs and 7 X-STRs, respectively, compared to those based on length information and 11 novel alleles were identified. Five mutations were found for 58 STRs in 81 parent-offspring but no mutations were observed for SNPs. For 27 autosomal STR loci, the LRs were increased from 9.20, 7.87, 2.01, 2.07, 0.42 for log₁₀LR_length to 11.52, 10.12, 2.61, 2.60, 0.52 for log₁₀LR_sequence for paternity index (PI), full siblings index (FSI), grandparent-grandchild index (GI), uncle/aunt-nephew/niece index (UNI) and first cousins index (FCI), respectively. PI values for 94 SNPs separated more than those of 27 STRs if two individuals were non parent-offspring relatives. For the simulation study, the effectiveness was 1 for the parent-offspring relationship at the thresholds of t₁ = − 4 and t₂ = 4 and was 0.9998 for full siblings (t₁ = − 2, t₂ = 2). With an error rate of 0.42%, 93.02% of second degree relatives could be identified at the thresholds of t₁ = − 1 and t₂ = 1. However, the effectiveness was only 0.4300 for first cousins with a relatively high error rate of 2.68% (t₁ = − 1, t₂ = 1). In conclusion, STR typing according to the sequence information is more polymorphic, which increases the discrimination power for kinship testing. Compared to these 27 STR markers, 94 SNP markers in this panel have advantages in paternity testing especially when mutated STRs are involved or when a relative is an alleged parent. This panel is powerful enough to resolve paternity and full sibling testing. Most of the second degree relationships could be identified with low error rate while more markers are still needed for first cousins testing.     

Outcome of sentinel lymph node biopsy in early-stage squamous cell carcinoma of the oral cavity with methylene blue dye alone: a prospective validation study

Our aim was to evaluate the feasibility and role of sentinel lymph node (SLN) biopsy using methylene blue dye alone in identifying occult lymph node metastases in early oral cancer (cT1, T2, and cN0). The study was done from 2013–15 in 94 patients in a large cancer centre. The blue nodes were dissected and sent for frozen section, routine histopathological examination, and immunohistochemical testing for cytokeratin, and was followed by elective neck dissection in all patients. The identification rate was 93.61%. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy for frozen section and haematoxylin and eosin (H&E) staining were 84.6%, 100%, 100%, 93.9% and 95.5%, respectively. Occult lymph node metastasis was seen in 27.6% cases. Biopsy of SLN with blue dye alone might be used successfully with good sensitivity and negative predictive value in countries with limited resources in the developing world. Immunohistochemistry contributes to it by increasing the sensitivity and NPV, and thereby improves the diagnostic value.     

Fístulas posquirúrgicas de líquido cefalorraquídeo tras cirugía transesfenoidal de adenomas hipofisarios: análisis de una serie de 302 intervenciones

IntroductionTranssphenoidal surgical removal is the preferred treatment of most pituitary adenomas. Postoperative cerebrospinal fluid (CSF) leakage is the leading cause of morbidity after this procedure, with an incidence rate that varies from 0,5-15% in the main published series.ObjectivesThe primary objective of this study was to establish the incidence of postoperative CSF leakage in a sample of surgeries performed at the University Hospital of La Ribera by the same surgical team. The secondary objectives were to: ascertain the distinctive features between patients with and without postoperative CSF leakage, identify risk factors for their development, evaluate the relationship between the surgical technique for closing the sella turcica and the onset of postoperative CSF leakage and evaluate different treatment regimens for this complication.MethodsThe data of 302 consecutive transsphenoidal surgical procedures for pituitary adenoma removal which were performed between 1999 and 2017 were retrospectively reviewed.Results and conclusionsThe incidence of postoperative CSF leakage in our series was 2,3% (in accordance with similar published studies). It was possible to correlate intraoperative CSF leakage with two variables: pituitary macroadenoma and tumors with suprasellar extension (P < .005). This correlation did not exist for postoperative CSF leakage. We found a statistically significant correlation between intraoperative and postoperative CSF leakage (P < .005). Due to the low incidence of postoperative CSF leakage in our series, it was not possible to identify risk factors for its development.