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...     

Supine body posture reduces cognitive conflict processing: Evidence from N450 Stroop interference

Previous research has revealed that a supine body posture, as compared to a sitting upright posture, decreases approach motivation and cognitive dissonance reduction. The present research was designed to test whether a supine body posture would decrease cognitive conflict processing, the process that occurs prior to cognitive dissonance reduction. Previous research using the Stroop task has found event‐related potentials (N450, error‐related negativity [ERN]) that are associated with cognitive conflict processing. In the current experiment, participants (N = 35) completed a color‐naming Stroop task while sitting upright or supine (within‐subjects, counterbalanced). Results revealed that as compared to the upright posture, the supine posture reduced the N450 Stroop interference effect but not the ERN.     

肺动脉高压患者服药依从性现状及其影响因素研究

目的了解肺动脉高压(PAH)患者服药依从性现状,探讨其服药依从性的影响因素。方法采用方便抽样法,对2019年4月8日—12月10日在北京市某三甲医院住院的226例PAH患者进行横断面调查,采用Morisky量表对PAH患者服药依从性进行评价,采用一般情况调查表、PAH知识问卷、社会支持评定量表、SAS、SDS对患者进行调查,纳入可能对PAH患者服药依从性产生影响的因素,进行单因素分析和多重逐步回归分析。结果PAH患者服药依从性评分为(5.26±0.11)分,PAH患者的疾病认知、居住地、文化程度及抑郁水平是其服药依从性的影响因素(P<0.05)。结论PAH患者服药依从性较差,在今后临床工作中要重视提高患者对疾病认知的水平,加强对患者抑郁的评估,以做到早发现、早干预,同时加强心理护理和健康宣教,提高患者服药依从性。     

造口袋局部剪裁技巧联合防漏贴环在肠造口旁瘘门诊患儿的应用效果

目的探讨造口袋剪裁技巧联合防漏贴环在肠造口术后并发造口旁瘘伴刺激性皮炎门诊患儿的应用效果。方法采用便利抽样法,选取2017年5月—2019年11月于深圳市儿童医院造口专科护理门诊就诊的肠造口术后并发造口旁瘘伴刺激性皮炎的家庭护理困难患儿21例为研究对象,使用造口袋剪裁技巧(旁瘘处局部微扩增宽1~2 mm剪裁)联合防漏贴环方法进行干预,比较干预前后肠造口周围皮肤状况评分(DET)、造口袋更换间隔时间、主要照护者SAS得分。结果21例患儿首次就诊时DET评分为(8.29±1.15)分,干预1周后复诊时DET评分为(5.14±1.80)分,差异有统计学意义(t=11.65,P<0.01)。干预前造口袋更换间隔时间为(0.45±0.10)d,干预后更换间隔时间为(1.06±0.29)d,差异有统计学意义(t=-10.67,P<0.01)。首次就诊时21例患儿的主要照护者SAS评分为(66.05±5.29)分,干预1周后SAS评分(49.10±3.35)分,差异有统计学意义(t=21.59,P<0.01)。结论肠造口术后并发造口旁瘘伴刺激性皮炎的家庭护理困难患儿使用造口袋局部剪裁技巧联合防漏贴环可缩小刺激性皮炎的范围,减轻刺激性皮炎的严重程度,延长造口袋更换间隔时间,有效改善主要照护者的焦虑症状。     

骨代谢标志物在老年骨质疏松症诊疗中的意义

背景:骨质疏松症并非一个简单的骨定量的问题。骨质疏松症的评估是年龄、性别、骨代谢、骨形成和骨生物力学动态结果。抗酒石酸酸性磷酸酶5b和骨碱性磷酸酶分别反映的是骨吸收和骨形成的两个重要指标。目的:分析骨代谢标志物在老年骨质疏松症诊疗中的临床意义以及其与骨密度的相关性。方法:选取老年骨质疏松症患者100例,年龄分布:65-70岁30例、71-75岁40例、76-80岁30例;排除合并糖尿病、肿瘤及其他影响骨质状况疾病。所有患者入院后检测骨生化4项,包括:抗酒石酸酸性磷酸酶5b、骨碱性磷酸酶、骨钙素N端中分子片段以及25-羟维生素D。据检测结果患者分成抗酒石酸酸性磷酸酶5b升高组和骨碱性磷酸酶升高组,分别行抗骨质疏松症治疗3个月。分析患者骨密度和骨生化4项检查结果与性别、年龄的相关性;进行两组治疗前后骨生化4项差异性比较及组间差异性比较。结果与结论:腰椎和髋关节骨密度随年龄增加而降低(P<0.05);男性组的腰椎和股骨颈Word三角区骨密度测量值较女性组高。抗酒石酸酸性磷酸酶5b、骨碱性磷酸酶、骨钙素N端中分子片段随年龄增加在人体内含量升高(P<0.05),而25-羟维生素D随年龄增加在人体内含量降低(P<0.05);女性骨质疏松症患者抗酒石酸酸性磷酸酶5b、骨碱性磷酸酶、骨钙素N端中分子片段在人体内含量较男性患者高,而25-羟维生素D在人体内含量较男性患者低。两组患者使用抗骨质疏松症药物治疗后骨生化4项指标均较治疗前有改善。结果提示,骨代谢标志物检测能明确患者体内是以成骨细胞功能为主和还是以破骨细胞功能为主,以便指导临床针对性使用抗骨质疏松症药物,为临床治疗骨质疏松症和监测疗效提供科学依据。     

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。     

238例支气管肺泡灌洗液细胞病理学结果分析与临床意义

目的通过对2012年3月至2014年11月贵阳市第五人民医院238例支气管肺泡灌洗液(bronchoalvelar lavage fluid,BALF)细胞病理学检查结果分析,探讨其在临床肺部疾病诊治中的意义。方法留取支气管肺泡灌洗液15~20m L,所有标本用Thin Prep液基细胞学技术涂片后行HE染色、过碘酸-雪夫(PAS)染色、六胺银(GMS)染色、抗酸染色。结果238例BALF标本中查见异常成分的80例(33.6%);其中卡氏肺囊虫47例,分枝杆菌15例,真菌8例,巨细胞病毒2例,复合感染3例,查见肿瘤细胞5例。结论本院送检支气管肺泡灌洗液标本异常检出率高,细胞病理学检查为肺部疾病诊断提供方便快捷的形态学依据,有重要临床应用价值。     

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.