Changes in Bone Marrow Adipose Tissue in Transgender and Gender Non-Conforming Youth Undergoing Pubertal Suppression: A Pilot Study

Pubertal suppression with gonadotropin-releasing hormone (GnRH) agonists in transgender and gender non-conforming (TGNC) youth may affect acquisition of peak bone mass. Bone marrow adipose tissue (BMAT) has an inverse relationship with bone mineral density (BMD). To evaluate the effect of pubertal suppression on BMAT, in this pilot study we prospectively studied TGNC youth undergoing pubertal suppression and cisgender control participants with similar pubertal status over a 12-month period. BMD was measured by dual-energy X-ray absorptiometry and peripheral quantitative computed tomography. Magnetic Resonance T1 relaxometry (T1-R) and spectroscopy (MRS) were performed to quantify BMAT at the distal femur. We compared the change in BMD, T1-R values, and MRS lipid indices between the two groups. Six TGNC (two assigned female and four assigned male at birth) and three female control participants (mean age 10.9 and 11.7 years, respectively) were enrolled. The mean lumbar spine BMD Z-score declined by 0.29 in the TGNC group, but increased by 0.48 in controls (between-group difference 0.77, 95% CI: 0.05, 1.45). Similar findings were observed with the change in trabecular volumetric BMD at the 3% tibia site (-4.1% in TGNC, +3.2% in controls, between-group difference 7.3%, 95% CI: 0.5%-14%). Distal femur T1 values declined (indicative of increased BMAT) by 7.9% in the TGNC group, but increased by 2.1% in controls (between-group difference 10%, 95% CI: -12.7%, 32.6%). Marrow lipid fraction by MRS increased by 8.4% in the TGNC group, but declined by 0.1% in controls (between-group difference 8.5%, 95% CI: -50.2%, 33.0%). In conclusion, we observed lower bone mass acquisition and greater increases in BMAT indices by MRI and MRS in TGNC youth after 12 months of GnRH agonists compared with control participants. Early changes in BMAT may underlie an alteration in bone mass acquisition with pubertal suppression, including alterations in mesenchymal stem cells within marrow.     

一腓骨肌萎缩症家系临床及基因分析

目的分析一腓骨肌萎缩症家系的临床表现及不同基因检测方法的特点。方法收集一CMT家系8名成员临床资料,并应用等位基因特异性PCR-双酶切方法及多重连接依赖的探针扩增技术(MLPA)检测PMP22基因突变情况,同时选择60名性别、年龄无明显差异的健康人做为对照组。结果该家系中患病者以行走不稳、跨阈步态,伴有弓形足为主要临床表现。该家系中5名成员经等位基因特异性PCR-双酶切及MLPA方法均检测出PMP22基因重复序列,其中出现临床症状的有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),未出现临床症状但基因检测结果示PMP22基因重复序列的为携带者有1名(Ⅲ5),家系中余3名成员及对照组60名均未见重复序列。结论基因检测在明确CMT诊断中起重要作用,且MLPA法筛查基因时操作更简便、灵敏度更高、特异性更好。     

肩关节上关节囊重建治疗肩袖损伤适应证和移植物处理方法研究进展

目的对肩关节上关节囊重建治疗肩袖损伤适应证和移植物处理方法的研究进展进行综述。方法广泛查阅近年来国内外有关肩关节上关节囊重建治疗肩袖损伤的文献，并进行总结分析。结果肩关节上关节囊重建可以有效恢复肩关节上方稳定性，其手术适应证包括不可修复巨大肩袖撕裂、巨大肩袖撕裂合并肩关节假性麻痹、肩袖分层撕裂以及中或大的肩袖撕裂合并肩袖严重退变。为了获得较好的腱骨愈合以及降低移植物远期再撕裂率，必须选择合适厚度的移植物，并以适当的强度固定移植物并恢复其连续性。结论肩关节上关节囊重建的手术应用已发展至上关节囊加强重建，手术适应证从肩袖实质性巨大缺损扩展至肩袖严重退变。移植物处理是上关节囊重建手术成功的关键。     

基于体表生理信号的呼吸功能监测仪研制

目的：研制一款基于体表心电、膈肌电和胸阻抗信号的呼吸功能监测仪原理样机,可在家庭、医疗急救等场合实现对呼吸功能的持续监测。方法：以STM32F411VET6单片机开发系统为平台,用一对Ag/AgCl电极作为高频激励信号的输出和心电、胸阻抗信号的检测电极,另一对Ag/AgCl电极作为膈肌电信号检测电极,两对电极同时检测心电、膈肌电和胸阻抗信号。系统硬件主要包括心电信号检测电路、胸阻抗信号检测电路、膈肌电信号检测电路、恒流源激励电路以及微控制器。系统采用12 V可充电锂电池供电,模拟信号通过单片机A/D转换成数字信号,通过SDIO接口存储于SD卡。在完成样机制作和性能测试之后,采集13例因呼吸功能障碍实施机械通气患者和13例健康成年人的信号,计算15个与呼吸功能相关的参数,比较机械通气患者与健康对照组参数之间的差异,验证了呼吸功能监测仪的可靠性。结果：样机采集信号的信噪比>10 dB、共模抑制比>80 dB,样机漏电流<30μA。机械通气患者的吸气时间、呼气时间、潮气量、胸阻抗峰峰值、胸阻抗1 s变化量、膈肌电低频功率、膈肌电高频功率、高频比低频、膈肌放电面积、膈肌放电时...     

双手背多发结节型环状肉芽肿一例

51岁女性患者,双手背结节逐渐增多伴压痛10年,否认关节痛病史。系统检查无异常。皮损组织病理学示真皮及皮下组织内组织细胞形成的栅栏状肉芽肿,中央可见胶原纤维变性。辅助检查:类风湿因子(RF)及抗溶血性链球菌O (ASO)阴性,血尿酸值正常,结核菌纯蛋白衍生物(PPD)试验阴性,胸部X线片示双肺纹理增多,自身抗体谱阴性。结合临床诊断:结节型环状肉芽肿。给予沙利度胺口服及皮损内曲安奈德注射治疗后皮损大部分消退。