1例异基因半相合非清髓外周血造血干细胞移植联合脐带间充质干细胞移植治疗假肥大型肌营养不良症的护理

患者,男,15岁,因行走缓慢,易摔跤,鸭步,双小腿腓肠肌假性肥大,四肢近端肌肉萎缩无力,Gower征阳性,血清肌酸激酶（CK）9606U／L,肌肉磁共振示双侧臀部及大腿肌肉对称性萎缩伴脂肪替代改变,肌电图为肌源性损害,PCR检测45基因外显子缺失,肌肉活检见骨骼肌抗肌萎缩蛋白阴性而诊断为DMD。     

杜氏肌营养不良与贝氏肌营养不良常规MRI的对比研究

目的 探讨常规MRI鉴别诊断杜氏肌营养不良（DMD）和贝氏肌营养不良（BMD）的价值。方法 回顾性分析经临床确诊为抗肌萎缩蛋白病697例患者的臀部及大腿肌肉影像学资料,比较DMD与BMD影像学征象的异同。结果 DMD与BMD患者肌肉脂肪浸润的分布规律一致,DMD总体脂肪浸润程度高于BMD（P=0.034）,且以臀大肌、股直肌、缝匠肌为著;肌肉总体水肿程度差异无统计学意义（P=0.065）,但DMD大腿后群肌肉及缝匠肌的水肿明显高于BMD。DMD与BMD患者肌肉萎缩及肥大的选择性受累规律一致,BMD股外侧肌、股中间肌、股内侧肌、半膜肌及股二头肌长头萎缩频率明显高于DMD（P<0.05）;DMD与BMD患者肌肉的肥大改变差异无统计学意义（P>0.05）。结论 常规MRI可鉴别诊断DMD与BMD。     

T2WI-Dixon序列在杜氏肌营养不良症患者肌肉脂肪浸润和水肿评价中的应用价值研究

目的 对比T2加权水脂分离成像（T2WI-Dixon）序列与常规序列[T1WI和T2WI-SPAIR(spectral attenuated inversion recovery)序列]的图像质量以及在评价杜氏肌营养不良症（Duchenne muscular dystrophy, DMD）患者臀腿肌肉脂肪浸润和水肿程度中的一致性,探讨T2WI-Dixon作为单个序列在DMD患者臀腿部肌肉评估中的应用价值。材料与方法 前瞻性纳入71例DMD患者进行3.0 T磁共振臀部及大腿轴位扫描,扫描序列包括T2WI-Dixon序列、T1WI序列和T2WI-SPAIR序列。采用主观（Likert 4分量表,内容包括图像伪影、脂肪抑制能力以及整体质量）与客观[定量测定图像信噪比（signal-noise ratio, SNR）与对比噪声比（contrast-to-noise ratio, CNR）]相结合的方法对各序列采集的图像质量进行综合评价。参考Mercuri分级量表和Kim分级量表对肌肉脂肪浸润和水肿程度进行评分,评估方法间的一致性。同时评估观察者间和观察者内主观评分一致性。结果 在图像质量主观评...     

杜氏肌营养不良症的细胞治疗进展

杜氏肌营养不良症(DMD)为X-连锁隐性遗传,患病率为3.3/10万。本病发生是编码抗肌萎缩蛋白(Dystrophin,Dys)的基因突变引起。DMD患者骨骼肌呈反复退化和再生,最终肌卫星细胞耗竭,骨骼肌被结缔组织和脂肪代替。患者往往在20岁左右因呼吸衰竭而死亡。目前DMD临床治疗效果仍不理想,本文就DMD细胞治疗实验及临床研究进行综述。     

水脂分离技术IDEAL-IQ在肌骨疾病中的应用进展

IDEAL-IQ水脂分离技术全称是非对称回波的最小二乘估算法迭代水脂分离方法,能精准量化脂肪分数及铁质含量.在肌骨疾病的骨折风险预测、肌骨炎性病变及外伤脂肪浸润评估、肿瘤鉴别及病情监测方面具有重要的临床价值.本文主要就IDEAL-IQ序列的成像方法及其在骨骼肌肉疾病的临床应用进行综述.     

磁共振IDEAL-IQ与mDixon Quant技术对腹部、椎体脂肪定量的对比分析

目的 探讨不同平台3.0 T MR设备上非对称回波最小二乘估算法迭代水脂分离序列(iterative decomposition of water and fat with echo asymmetry and least-squares estimation quantitation sequence, IDEAL-IQ)和魔镜成像(mDixon Quant)序列对肝脏、胰腺与腰椎椎体脂肪含量(fat fraction,FF)定量评估的差异。材料与方法 前瞻性纳入36名健康志愿者[男15名,女21名;年龄(24.39±2.28)岁],分别在两个不同平台3.0 T MR上对腹部与腰椎行IDEAL-IQ和mDixon Quant序列扫描。两名观察者测量所有志愿者肝脏、胰腺和腰椎(L1～L5)椎体的FF值并进行两序列间对比分析。结果 两名观察者所测数据一致性良好(组内相关系数>0.75)。IDEAL-IQ与mDixon Quant序列定量测量肝脏FF值为3.74±0.89、3.69±0.80;胰腺FF值为4.66±1.37、4.63±1.35;腰椎各节椎体FF值如下：L1为32.29...     

IDEAL-IQ定量评价兔糖尿病模型椎体骨髓脂肪含量的可行性研究

目的探索定量非对称回波的最小二乘估算法迭代水脂分离序列(iterative decomposition of water and fat with echo asymmetry and least-squares estimation quantitation sequence,IDEAL-IQ)定量评估兔糖尿病模型椎体骨髓脂肪含量的可行性。材料与方法12只3月龄新西兰雄性大白兔随机分为糖尿病组(n=6)和对照组(n=6)。用四氧嘧啶对糖尿病组造模,在造模成功后各时间点(0、4、8、12、16周),对糖尿病组及对照组行腰椎矢状位T1WI、T2WI、IDEAL-IQ检查。在IDEAL-IQ脂肪分数图像测量兴趣区内脂肪含量比值;在16周处死糖尿病组和对照组的大白兔,取腰3～7椎体做HE染色脂肪细胞计数;对实验组和对照组兔各时间点的脂肪含量比值采用重复测量的方差分析;对16周实验组和对照组IDEAL-IQ测量腰椎体脂肪比参数与HE切片镜下脂肪细胞计数行Pearson相关分析。结果16周实验组兔腰椎常规矢状位T1WI和T2WI显示诸腰椎椎体信号轻度增高。常规HE染色显示,16周糖尿病组兔椎体终板下骨髓腔脂肪含量较对照组明显增多,骨髓细胞明显减少。糖尿病组各时间节点椎体骨髓的脂肪含量比值差异存在统计学意义(F=50.387,P＜0.01),对照组各时间点脂肪含量比值差异不存在统计学意义(F=1.477,P＞0.05);16周实验组与对照组的椎体骨髓脂肪含量比值(FF%)差异有统计学意义(t=-10.726,P＜0.01);IDEAL-IQ测量椎体脂肪含量比与脂肪细胞计数高度正相关关系(r=0.925,P＜0.05)。结论 IDEAL-IQ定量评估兔糖尿病模型椎体骨髓脂肪含量是可行的。     

并发杜氏肌营养不良症的复合型甘油激酶缺乏症一例并文献复习

目的分析并发杜氏肌营养不良症(DMD)的复合型甘油激酶缺乏症(CGKD)的诊治要点。方法报道1例并发DMD的CGKD病例,并以"复合型甘油激酶缺乏症"和"杜氏肌营养不良"为关键词(包括中英文)在PubMed和中国期刊全文数据库(CNKI)进行检索,收集并分析相关患者的资料。结果该例患儿以双下肢乏力为主要表现,伴皮肤色素沉着,尿液有机酸综合分析示甘油显著升高,促肾上腺皮质激素升高而血皮质醇降低,经基因检测明确DMD及CGKD的诊断,予氢化可的松口服激素替代治疗与其他对症治疗,患儿病情好转且稳定。检索文献共收集到20篇相关的病例报道,小年龄CGKD伴DMD患儿的肌营养不良相关症状不明显,多表现为无原因肌酶升高,随着年龄增长患儿逐渐出现肌肉乏力症状,预后差。CGKD目前尚无有效根治方法,以氢化可的松替代治疗、低脂饮食以及康复治疗等对症治疗为主。结论伴发DMD的CGKD患儿预后差,因此产前诊断更为重要,临床医师需提高认识,及时行基因检测以提高临床确诊率。     

磁共振IDEAL-IQ技术在非酒精性脂肪肝中脂肪定量检测的价值

目的:探讨磁共振IDEAL-IQ技术用于非酒精性脂肪肝中临床定量检测肝脏脂肪的应用价值。方法:选取2021年9月—2022年1月南京市溧水区人民医院收治的磁共振IDEAL-IQ技术定量检验的患者318例为研究对象,根据检测结果患者有无患脂肪肝疾病情况划分观察组(n=45)与对照组(n=273)。观察组确诊为脂肪肝,对照组为健康体检者。以临床综合诊断结果为金标准,计算磁共振IDEAL-IQ技术定量检测非酒精性脂肪肝的准确率、灵敏度与特异度,同时比较分析不同程度脂肪肝患者的肝脏脂肪分数(HFF),探讨不同程度脂肪肝患者影像学表现。结果:磁共振IDEAL-IQ技术定量检测非酒精性脂肪肝的准确率为99.37%、灵敏度为97.78%、特异度为99.63%。观察组非酒精性脂肪肝患者中,轻度脂肪肝患者HFF值明显低于中度及重度脂肪肝患者,差异有统计学意义(P<0.05)。结论:通过磁共振IDEAL-IQ技术定量检测非酒精性脂肪肝患者肝脏脂肪分数,以此作为鉴别诊断非酒精性脂肪肝疾病的数据参考,诊断准确性高,值得推广应用。     

运用3.0T磁共振IDEAL-IQ技术进行肝脏脂肪定量分析的可行性研究

目的探讨在3.0 T MRI上运用IDEAL-IQ序列进行肝脏脂肪定量分析的可行性。方法对31例经临床确诊的脂肪肝患者及20名健康志愿者行常规MRI扫描及IDEAL-IQ序列检查;同期空腹采静脉血检测血清甘油三酯(TG)、总胆固醇(TC)及高密度脂蛋白胆固醇(HDL-C)含量;扫描前后2 d内行上腹部CT扫描测量肝脾CT值并计算比值。比较经IDEAL-IQ直接测得肝脏脂肪分量值、肝脾CT值比值及血清学检查各项指标的一致性。结果健康对照组与脂肪肝组的TG、TC及HDL-C值差异有统计学意义(P<0.05);健康对照组与脂肪肝组的肝脾CT值比值差异有统计学意义(P<0.05);健康对照组与脂肪肝组的脂肪分量值差异有统计学意义(P<0.05);脂肪肝组的脂肪分量值与血清TG、TC值呈显著正相关(r=0.836、0.852,P<0.05),而与肝脾CT值比值、HDL-C值呈负相关(r=-0.992、-0.735,P<0.05)。结论 IDEAL-IQ成像技术定量评估肝脏的脂肪含量是可行的,并与肝脾CT值比值及临床血清学检测之间具有良好的相关性,对脂肪肝的定量诊断具有重要的临床应用价值。     

Validation of a DIXON-based fat quantification technique for the measurement of visceral fat using a CT-based reference standard

Purpose

The purpose of the study is to determine whether a novel semi-automated DIXON-based fat quantification algorithm can reliably quantify visceral fat using a CT-based reference standard.

Methods

This was an IRB-approved retrospective cohort study of 27 subjects who underwent abdominopelvic CT within 7 days of proton density fat fraction (PDFF) mapping on a 1.5T MRI. Cross-sectional visceral fat area per slice (cm²) was measured in blinded fashion in each modality at intervertebral disc levels from T12 to L4. CT estimates were obtained using a previously published semi-automated computational image processing system that sums pixels with attenuation − 205 to − 51 HU. MR estimates were obtained using two novel semi-automated DIXON-based fat quantification algorithms that measure visceral fat area by spatially regularizing non-uniform fat-only signal intensity or de-speckling PDFF 2D images and summing pixels with PDFF ≥ 50%. Pearson’s correlations and Bland–Altman analyses were performed.

Results

Visceral fat area per slice ranged from 9.2 to 429.8 cm² for MR and from 1.6 to 405.5 cm² for CT. There was a strong correlation between CT and MR methods in measured visceral fat area across all studied vertebral body levels (r = 0.97; n = 101 observations); the least (r = 0.93) correlation was at T12. Bland–Altman analysis revealed a bias of 31.7 cm² (95% CI [− 27.1]–90.4 cm²), indicating modestly higher visceral fat assessed by MR.

Conclusion

MR- and CT-based visceral fat quantification are highly correlated and have good cross-modality reliability, indicating that visceral fat quantification by either method can yield a stable and reliable biomarker.

     

Surface electromyographic activity of five residual limb muscles recorded during isometric contraction in transfemoral amputees with osseointegrated prostheses

Background

Femoral osseointegrated implants represent a new development in amputee rehabilitation, eliminating socket pressure discomfort, improving hip range of movement and facilitating prosthetic limb attachment. A clinical aspect that has not previously been reported on is the function of muscles in the residuum with implications concerning energy expenditure, hip-hiking and viability of the electrogram as a myoprocessor. Typically, amputees fitted with osseointegrated fixation have shorter residuums and weaker attachment of cleaved muscles. Function of muscle can be assessed by surface electromyography through changes in amplitude and median frequency of the signal.

Methods

Five male transfemoral amputees with osseointegrated fixations participated together with a control group comprised of ten adult males. Electrodes recorded surface electromyographic activity of five residual limb muscles or left lower limb muscles of control subjects. Isometric contractions were performed against resistance. The increase in mean rectified amplitude from resting to maximally contracting was calculated and median frequencies estimated.

Findings

The amputees were unable to maintain a maximum voluntary contraction of constant amplitude. Amplitude increase was lowest for rectus femoris and adductor magnus. The median frequency of adductor magnus was significantly greater (P = 0.02) for the amputees than intact subjects and there was a significant difference (P < 0.01) between gluteus maximus and adductor magnus for amputee subjects.

Interpretation

High electromyographic amplitude variability suggests that using residuum muscles singly as a myoprocessor might be challenging. Adductor magnus displayed a different sEMG profile compared to intact subjects indicating decreased function and neuromuscular changes. Further work into optimal muscle anchorage is required to ensure maximal mechanical performance.     

Intramuscular fat in children with unilateral cerebral palsy

BackgroundMany children with cerebral palsy develop muscle contractures. The mechanisms of contracture are not well understood. We investigated the possibility that, because fat is stiffer than passive muscle, elevated intramuscular fat contributes to contracture. In this cross-sectional study, we compared the quantity and distribution of intramuscular fat in muscles from typically developing children and children with cerebral palsy who have contractures.MethodsmDixon magnetic resonance images were obtained from the legs of 20 ambulant children with unilateral spastic cerebral palsy who had ankle contractures (mean age 11 SD 3 years, 13 male, mean moderate level contracture) and 20 typically developing children (mean age 11 SD 4 years, 13 male). The images were analyzed to quantify the intramuscular fat fraction of the medial gastrocnemius muscles. The amount and distribution of intramuscular fat were compared between muscles of children with cerebral palsy and typically developing children.FindingsIn typically developing children, the medial gastrocnemius muscles had a mean intramuscular fat fraction of 4.7% (SD 1.6%). In children with cerebral palsy, the mean intramuscular fat fractions in the more- and less-affected medial gastrocnemius muscle were 11.4% (8.1%) and 6.9% (3.4%) respectively. There were small but statistically significant regional differences in the distribution of intramuscular fat. There was no evidence of a relationship between intramuscular fat fraction and severity of contracture.InterpretationChildren with cerebral palsy have higher proportions of intramuscular fat than typically developing children. There is no clear relationship between intramuscular fat fraction and dorsiflexion range of motion in children with cerebral palsy.     

常规MRI及功能MRI诊断抗肌萎缩蛋白病

目的 探讨常规MRI、DWI、T2-mapping和¹H-MRS诊断抗肌萎缩蛋白病的价值。方法 收集经病理和（或）基因检测确诊的抗肌萎缩蛋白病患者39例（病例组）,另纳入12名健康志愿者作为对照组。对研究对象双侧大腿行常规MR、DWI、T2-mapping和¹H-MRS检查,常规MRI时进行肌肉脂肪浸润程度评分,于右股外侧肌选择ROI,测量ADC值、R2值、脂肪分数（FF）,比较两组间上述各指标差异;绘制诊断抗肌萎缩蛋白病的ROC曲线,评价诊断效能。结果 常规MRI中92.31%（36/39）肌肉呈不同程度脂肪浸润;臀大肌（36/36,100%）最常受累,脂肪浸润评分最高[(2.79±1.38)分];长收肌(12/36,33.33%)最少受累,脂肪浸润评分[(0.56±1.07)分]。病例组ADC值和R2值均低于对照组低,FF值高于对照组(P均<0.05)。以脂肪浸润评分0.50分、ADC值1.72×10^-3 mm²/s、R2值6.77 Hz、FF值35.20诊断抗肌萎缩蛋白病,其敏感度和特异度分别为94.10%和100%、82.40%和83.30%、100%和83.30%、35.20%和64.60%,其曲线下面积分别为0.97、0.84、0.95、0.82。结论 常规MRI中脂肪浸润评分及不同功能MRI中ADC值、R2值和FF值诊断抗肌萎缩蛋白病效能高,具有重要临床应用价值。     

定量CT在2型糖尿病胰腺脂肪沉积诊断中的应用价值

目的:分析定量CT(QCT)与MRI非对称回波的最小二乘估算法迭代水脂分离序列(IDEAL-IQ)在2型糖尿病患者胰腺脂肪含量测定中的相关性及一致性。方法:纳入67例2型糖尿病志愿者,男性33例、女性34例,平均年龄(66.55±6.23)岁。用MRI IDEAL-IQ技术及QCT对患者的胰腺头、体及尾部区域的脂肪含量进行定量测量,获得患者的MRI胰腺脂肪分数(MR-PFF)及CT胰腺脂肪分数(CT-PFF)。对MR-PFF与CT-PFF进行相关性分析,并进行Bland-Altman一致性分析。同时分析MR-PFF与肝脏脂肪含量、腹围、体质量指数(BMI)等的相关性。结果:67例受试者平均腹围(83.34±10.1)cm、平均BMI(24.02±2.96)kg/m~2,平均肝脏脂肪含量(5.28±2.76)%。腹围及肝脏脂肪含量与MR-PFF相关(P0.05)。MR-PFF和CT-PFF分别为(12.21±10.71)%、(19.9±10.61)%,两者呈显著线性相关(r=0.842,P0.001),MR-PFF=-4.169+0.818×CT-PFF;Bland-Altman分析示两者一致性较好(95%CI-4.15%～19.75%,P=0.044),3例样本在该区间外。结论:QCT与MRI测量的胰腺脂肪含量有明显的相关性和很好的一致性,可用于胰腺脂肪含量的定量测量。     

非对称回波的最小二乘估算法迭代水脂分离序列和弥散加权成像评估肝细胞癌Ki-67表达北大核心CSCD

目的观察非对称回波的最小二乘估算法迭代水脂分离序列(IDEAL-IQ)和弥散加权成像(DWI)评估肝细胞癌(HCC)Ki-67表达情况的价值。方法回顾性收集40例病理确诊为原发性HCC的患者,按照Ki-67表达指数将患者分为高表达(Ki-67表达指数>10%)组(n=23)和低表达(Ki-67表达指数≤10%)组(n=17),测量并比较2组病灶R2^(*)值、脂肪分数(FF)及表观弥散系数(ADC)。绘制受试者工作特征(ROC)曲线,观察R2^(*)值、FF及ADC评估HCC的Ki-67表达情况的效能。结果高表达组HCC的R2^(*)值高于低表达组(P<0.001),ADC低于低表达组(P=0.006),而组间FF差异无统计学意义(P=0.125)。以25.88 s^(-1)为R2^(*)值的截断值,其鉴别HCC Ki-67高、低表达的敏感度、特异度及AUC分别为60.90%、94.10%及0.867;以0.83×10^(-3) mm^(2)/s为ADC的截断值,其敏感度、特异度及AUC分别为94.10%、39.10%及0.703;以0.33为R2^(*)值联合ADC的截断值,其敏感度、特异度及AUC分别为94.10%、69.60%及0.870,且其AUC高于单一ADC的AUC(Z=1.988,P=0.047)。HCC患者Ki-67表达与病灶R2^(*)值呈高度正相关(r=0.84,P<0.001),与ADC呈中度负相关(r=-0.62,P<0.001)。结论MR IDEAL-IQ和DWI可有效评估HCC Ki-67表达;R2^(*)值联合ADC诊断价值最高。     

Age-related changes of water and fat content in muscles estimated by magnetic resonance (MR) imagine

The pixel values in fat/water suppression magnetic resonance (MR) images were measured for the thigh muscles of 18 healthy volunteers to investigate age-related changes in muscle water and fat content. Prior to the human studies the reproducibility of the data was confirmed using phantoms. The standard deviations (SDs) of the pixel values for one of the phantoms examined five times were found to be within a relatively narrow range. Both the pixel values in the fat suppression images (PV1) and the pixel values in the water suppression images (PV2) of all muscles tended to be higher in the oldest group. The results indicate that the water and fat content of skeletal muscles is higher in aged persons. Moreover, the PV1 in the non-dominant limbs was found to be increased in the extensor muscles of the knee joints, while the PV2 in the non-dominant limbs did not show a significant difference, except for the rectus femoris.     

Threshold‐automated CT measurements of muscle size and radiological attenuation in multiple lower‐extremity muscles of older individuals

Muscle atrophy and fat infiltration, two indicators of deconditioning and weakness in elderly frail patients, are typically assessed by means of manual image analysis from computed tomography (CT) scans. As this time‐consuming image analysis limits its wider use in clinical studies, the use of tissue thresholds to semi‐automatically assess muscle composition has been suggested. Here, we aimed to investigate the relationship between manual and semi‐automated analysis of both cross‐sectional area (CSA) and radiological attenuation (RA), in multiple muscles of the lower extremities in aged (77 ± 6 years) sedentary individuals (n = 40). The participants underwent CT scans of their lower limbs, including hip, thigh and calf muscles. The subsequent analysis of CSA and RA was conducted using both manual segmentation and semi‐automatic thresholds (?30 to +150 Hounsfield units). Automated measurements were generally strongly correlated with manually encircled CSA in all muscle groups (R = 0.79–0.99, p < .05) and shortened the analysis time by 70% (p < .05). In m. iliopsoas, however, the CSA became overestimated (15%, p < .05) with thresholded measurements, while the assessment of both CSA and RA was underestimated in muscles with high‐fat content (i.e., the gluteal muscles) and in individuals with high‐fat infiltration. In conclusion, using the semi‐automated technique with conventional thresholds is a time‐saving method that delivers accurate gross size of the muscle groups, particularly in the thigh. However, caution should be exercised when using semi‐automated techniques for assessing CSA and fat infiltration in muscles with high‐fat content.     

胸部CT评估慢性阻塞性肺疾病患者竖脊肌萎缩及脂肪浸润程度北大核心CSCD

目的观察胸部CT评估慢性阻塞性肺疾病(COPD)患者竖脊肌(ESM)萎缩及脂肪浸润程度的价值。方法纳入113例接受胸部CT平扫及肺功能检查的稳定期COPD男性患者(COPD组)及40名健康男性(对照组);比较组间及COPD组内不同慢性阻塞性肺疾病全球倡议(GOLD)分级患者一般资料、肺功能检查结果及ESM CT参数,并行相关性分析,观察COPD患者ESM萎缩及脂肪浸润特征。结果组间肺活量(VC)、用力VC(FVC)、第1秒用力呼气容积(FEV_(1))、FEV_(1)/FVC、残气量(RV)、RV/肺总量(TLC)、一氧化碳弥散量(DLco)、ESM总横截面积(CSA)、肌肉密度、放射性密度比(RDR)、CSA指数、ESM局部体积、面积密度乘积及肺气肿区域占总肺容积百分比(LAA%)差异均有统计学意义(P均<0.05)。COPD组内各GOLD分级COPD患者体质量、体质量指数(BMI)、深吸气量(IC)、VC、FVC、FEV_(1)、FEV_(1)/FVC、TLC、RV/TLC、DLco、ESM总CSA、CSA指数、ESM局部体积、面积密度乘积及LAA%差异均有统计学意义(P均<0.05)。COPD患者ESM局部体积与FEV_(1)呈中度相关(r=0.52,P<0.001)。结论胸部CT可定量评估COPD患者ESM萎缩及脂肪浸润程度;ESM局部体积为最佳评估指标。