Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation

neurogenetics - Mutations in CSNK2B lead to Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), a rare neurodevelopmental disorder. Only 14 cases of POBINDS have been reported worldwide. The...     

30例甲状腺微小癌的外科治疗体会

【摘要】 目的 总结甲状腺微小癌的外科治疗经验。方法 回顾性分析2010年5月至2014年5月收治30例甲状腺微小癌患者的临床资料。结果〓30例病例均行手术切除,其中24例(80.00%)术中冰冻切片证实,6例(20.00%)术后病理确诊。24例中,单侧甲状腺腺叶加峡部切除术加中央区颈淋巴结(VI)清扫术14例;双侧甲状腺全切7例;单侧腺叶、峡部切除术加同侧颈淋巴结清扫术3例。术后病理确诊的6例均采用一侧腺体大部切除。全组30例无手术死亡和术后并发症,随访未见肿瘤复发。结论〓单侧甲状腺腺叶及峡部切除是甲状腺微小癌手术治疗较理想的术式;有淋巴结转移者同时行功能性颈部淋巴结清扫术。     

Diagnostic Utility of Diffusion-weighted Magnetic Resonance Imaging in Differentiating Small Solid Renal Tumors (≤4 cm) at 3.0T Magnetic Resonance Imaging

Background:

The aim of this study was to assess the performance of apparent diffusion coefficient (ADC) measurement obtained with diffusion-weighted magnetic resonance imaging (DW-MRI) to distinguish renal cell carcinomas (RCCs) from small benign solid renal tumors (≤4 cm).

Methods:

In this cross-sectional study, 49 consecutive patients with histopathologically confirmed small solid renal tumors, and seven healthy volunteers were imaged using nonenhanced MRI and DW-MRI. The ADC map was calculated using the b values of 0, 50, 400, and 600 s/mm² and values compared via the Kruskal–Wallis and Mann–Whitney tests. The utility of ADC for differentiating RCCs and benign lesions was assessed using a receiver operating characteristic curve. Multiple nonenhanced MRI features were analyzed by Logistic regression.

Results:

The tumors consisted of 33 cases of clear-cell RCCs (ccRCCs) and 16 cases of benign tumors, including 14 cases of minimal fat angiomyolipomas and 2 cases of oncocytomas. The ADCs showed significant differences among benign tumors ([0.90 ± 0.52] × 10⁻³ mm²/s), ccRCCs ([1.53 ± 0.31] × 10⁻³ mm²/s) and the normal renal parenchyma ([2.22 ± 0.12] × 10⁻³ mm²/s) (P < 0.001). Moreover, there was statistically significant difference between high and low-grade ccRCCs (P = 0.004). Using a cut-off ADC of 1.36 × 10⁻³ mm²/s, DW-MRI resulted in an area under the curve (AUC), sensitivity, and specificity equal to 0.839, 75.8%, and 87.5%, respectively. Nonenhanced MRI alone and the combination of imaging methods led to an AUC, sensitivity and specificity equal to 0.919, 93.9%, and 81.2%, 0.998, 97%, and 100%, respectively. The Logistic regression showed that the location of the center of the tumor (inside the contour of the kidney) and appearance of stiff blood vessel were significantly helpful for diagnosing ccRCCs.

Conclusions:

DW-MRI has potential in distinguishing ccRCCs from benign lesions in human small solid renal tumors (≤4 cm), and in increasing the accuracy for diagnosing ccRCCs when combined with nonenhanced MRI.     

颅内外血栓在系统性红斑狼疮患儿中的发生情况比较*

目的 通过回顾性比较儿童系统性红斑狼疮（SLE）患者发生颅内、外血栓的情况,旨在发现SLE合并不同部位血栓的危险因素。方法 选取2006年1月—2019年12月首都医科大学附属北京儿童医院收治的SLE患儿,收集患儿人口学资料、临床表现、活动度评估及治疗、病程及随访资料等,并收集实验室检查数据及血栓相关数据等,根据血栓部位将患儿分为颅内血栓组及颅外血栓组,对两组资料进行比较。结果 27例SLE合并血栓患儿中,6例（22.22%）发生颅内血栓,21例（77.78%）患儿发生颅外血栓。颅内血栓以颅内静脉窦血栓形成（CVST）更为多见,横窦是CVST最常见的受累部位。颅外血栓常见受累部位依次为股总静脉、髂外静脉及股深浅静脉。颅外血栓组合并肾脏受累比例较颅内血栓组高（P?<0.05）,颅内血栓组合并神经系统受累比例较颅外血栓组高（P?<0.05）。颅外血栓组的Hb、C3、C4水平较颅内血栓组低,尿蛋白水平较颅内血栓组高（P?<0.05）。治疗后两组血栓均有一定程度的好转,其中颅内血栓组1例（16.7%）患儿血栓消失再通,颅外血栓组11例（52.4%）患儿血栓消失再通。结论 SLE合并颅内、外血栓形成有不同的特点,神经系统症状是颅内血栓最常见的症状,肾脏受累的患儿更易发生颅外血栓。早期诊断,积极治疗可明显改善SLE合并血栓患儿的预后。     

奥美定隆乳注射患者术后取出的手术方式分析

探讨奥美定隆乳注射患者术后取出的手术方式。对我科收治的奥美定注射患者,根据其临床表现、B超和MRI检查分成包膜硬结型、散在团块型、液态游走型及混合型,对不同类型的患者采取不同的手术方式。比较其愈合时间、术后并发症及复发情况。乳腔镜手术在伤口愈合时间上显著短于乳晕切口包块取出术。液态游走型或混合型患者行乳腔镜下包块取出术,术后伤口感染、疾病复发率显著高于乳腺切除组。包膜硬结型、散在团块型可行乳腔镜包块取出术、乳晕切口包块取出术或乳腺部分切除术,以尽量保留乳腺的完整,液态游走型或混合型应行乳腺全切术以彻底根治。