Duchenne肌营养不良15例临床及基因分析并文献复习

目的探讨假肥大型肌营养不良(DMD)的临床特征及基因缺失检测方法,为进一步产前基因诊断提供可靠方法。方法选择2011²013年在南京儿童医院神经科就诊的15例临床诊断DMD患者(均为男性,就诊年龄22013年在南京儿童医院神经科就诊的15例临床诊断DMD患者(均为男性,就诊年龄2¹4岁,平均8.1岁),应用多重连接依赖式探针扩增(MLPA)对患儿进行基因诊断,对经基因确诊的患者的临床相关资料及基因缺失结果进行回顾性分析并复习相关文献。结果 DMD好发于儿童,男性为主,异常步态,以肌无力和肌肉萎缩尤其小腿腓肠肌为特点,可有假性肥大,Gower征阳性。患儿血清激酶异常增高往往伴有肝功能异常,心电图、超声心动图可有异常表现,肌电图显示肌源性损害。15例临床诊断患儿行MLPA检测,其中9例检测出外显子缺失,患儿基因缺失占66.7%,突变热点集中在外显子4314岁,平均8.1岁),应用多重连接依赖式探针扩增(MLPA)对患儿进行基因诊断,对经基因确诊的患者的临床相关资料及基因缺失结果进行回顾性分析并复习相关文献。结果 DMD好发于儿童,男性为主,异常步态,以肌无力和肌肉萎缩尤其小腿腓肠肌为特点,可有假性肥大,Gower征阳性。患儿血清激酶异常增高往往伴有肝功能异常,心电图、超声心动图可有异常表现,肌电图显示肌源性损害。15例临床诊断患儿行MLPA检测,其中9例检测出外显子缺失,患儿基因缺失占66.7%,突变热点集中在外显子43⁵5区域。结论认识DMD临床特征有助于提高对该病临床诊断水平,直接基因分析为临床确诊DMD提供了可靠依据,有较高产前诊断和遗传咨询价值。     

Real-time ultrasonography in neuromuscular problems in children

Ultrasound imaging of 20 cases of progressive muscular dystrophy and 10 cases of suspected infantile spinal muscular atrophy in children was performed by us, as a double-blind plot study matched against 25 controls. Open muscle biopsy was restricted to the muscular dystrophy group. The ultrasonographic findings were correlated with parameters such as functional disability of muscle and muscle biopsy features in the dystrophy group. It was interesting to observe that the muscle echogram was abnormal in both types of neuromuscular problems, the controls giving a normal muscle echogram. Ultrasonography was helpful in detection of unequivocal changes in our cases with mild clinical disability. It had a close correlation with changes in gross muscle architecture, as seen on muscle biopsy.     

Real‐time Ultrasound Elastography in the Differential Diagnosis of Benign and Malignant Thyroid Nodules

Objective. The purpose of this study was to evaluate the diagnostic utility of real‐time ultrasound elastography in differentiating benign from malignant thyroid nodules. Methods. A total of 90 consecutive patients with thyroid nodules who were referred for surgical treatment were examined in this prospective study. One hundred forty‐five nodules in these patients were examined by B‐mode ultrasound, color Doppler ultrasound, and ultrasound elastography. The final diagnosis was obtained from histologic findings. Tissue stiffness on ultrasound elastography was scored from 1 (low stiffness over the entire nodule) to 6 (high stiffness over the entire nodule and surrounding tissue). Results. On real‐time ultrasound elastography, 86 of 96 benign nodules (90%) had a score of 1 to 3, whereas 43 of 49 malignant nodules (88%) had a score of 4 to 6 (P <.001), with sensitivity of 88%, specificity of 90%, a positive predictive value of 81%, and a negative predictive value of 93%. The predictivity of ultrasound elastographic measurement was independent of the nodule size. High sensitivity (88%) and specificity (93%) were also observed in 68 nodules that had a greatest diameter of 1 cm or less. Conclusions. Real‐time ultrasound elastography is a promising imaging technique that is useful in the differential diagnosis of thyroid cancer.     

"Benign" imaging abnormalities in children and adolescents with headache

OBJECTIVE: To study the frequency of "benign" abnormalities on brain imaging in children with headache, compare it with the frequency of imaging findings that dictate a change in patient management, and determine the association of benign findings with headache. METHODS: A database of 681 headache patients from the pediatric outpatient neurology department over 2 years was reviewed. Patients with benign imaging abnormalities were compared to those with nonbenign findings. Benign abnormalities were defined as those that did not result in a change in patient management. Using literature review, we discuss the benign findings and their possible association with headache. RESULTS: Two-hundred and forty-one patients (35.4%) had imaging at our facility. Two-hundred and eighteen had brain magnetic resonance imaging and 23 had brain computed tomography (CT) only. Twenty-two patients had CT of the sinuses in addition to brain imaging. Forty-six (19.1%) were found to have 50 benign abnormalities including 13 sinus disease, 11 Chiari I malformations, 7 nonspecific white matter abnormalities, 5 venous angiomas, 5 arachnoid cysts, 4 enlarged Virchow-Robin spaces, 2 pineal cysts, 1 mega cisterna magna, 1 fenestration of the proximal basilar artery, and 1 periventricular leukomalacia. Twenty-three patients (9.5%) had findings requiring a change in management. These included 5 sinus disease, 4 tumors, 4 old infarcts, 3 Chiari I, 2 moyamoya, 1 intracranial vascular stenosis, 1 internal jugular vein occlusion, 1 arteriovenous malformation, 1 demyelinating disease, and 1 intracerebral hemorrhage. When excluding sinusitis, which was evident clinically prior to imaging, 3 patients had absence of abnormal neurologic symptoms and signs and imaging findings that resulted in a change in management. CONCLUSIONS: Approximately 20% of pediatric headache patients with brain imaging have benign abnormalities that do not result in a change in headache management. Imaging findings that require a change in management are rare in patients with an absence of abnormal neurologic symptoms and signs, occurring in 1.2% of patients imaged in this study.     

轮状病毒肠炎并发无热惊厥22例临床分析

目的：分析小儿轮状病毒肠炎并发无热惊厥的住院病人的临床特点，并评价其近期预后。方法：回顾分析上海儿童医学中心1998～2004年治疗的22例轮状病毒肠炎并发无热惊厥的住院病人的临床特点。所有病人既往无惊厥史。结果：确诊为轮状病毒肠炎的共306例，其中34例伴有惊厥发生，包括22例无热惊厥和12例高热惊厥。并发无热惊厥的22例中，男13例，女9例，年龄范围为4个月～5．4岁，平均年龄19个月。无热惊厥发生率最高的年龄段为1～2岁。有9例在1次病程中发生多次无热惊厥，占40．9％。无一例为惊厥持续状态。共12例接受脑脊液检查均正常。仅2例在急性期发现脑电图轻度异常，恢复期复查转为正常。除发现1例存在严重低血糖外，其余病例均无明显的电解质紊乱。1例头颅CT提示脑沟、脑池增宽，脑室扩大，其余病例无影像学异常发现。随访期中所有病人均未再发生惊厥。结论：在轮状病毒肠炎病程中并发无热惊厥的病例大多数为一个良性的过程，预后较好。     

经阴道超声监测服用TAM的乳腺癌患者子宫内膜病变的价值分析

目的:探讨经阴道超声监测服用他莫昔芬TAM的乳腺癌患者子宫内膜病变的有效方法。材料和方法:回顾分析2010年1月-2019年1月首都医科大学附属北京妇产医院和北京市大兴区人民医院共94例乳腺癌术后服用TAM病人,对可疑子宫内膜病变者实行诊刮或手术获得组织病理学结果,进行病理与经阴道超声结果对照分析。结果:94例乳腺癌病人中,子宫内膜病理良性组78例(包括正常内膜8例、增生及复杂增生32例、息肉及息肉样增生28例及萎缩内膜10例),恶性组16例(包括非典型增生5例,高分化腺癌2例,中低分化腺癌5例,浆液性癌2例,恶性中胚叶混合瘤1例,透明细胞癌1例)。两组病人经阴道超声资料比较,在子宫内膜回声,内膜是否出现小囊性改变,内膜是否出现息肉样变,内膜与肌层界限情况及出现宫腔积液情况等指标上存在明显差异。而在子宫内膜厚度上差异不明显。结论:乳腺癌术后服用TAM病人经阴道超声检查如出现子宫内膜回声不均、子宫内膜出现息肉样变、内膜与肌层界限不清及宫腔积液者要高度警惕子宫内膜发生恶变可能,应提示临床尽早刮宫行组织病理学检查,而子宫内膜出现小囊变则良性内膜发生几率高。单纯依靠子宫内膜厚度测量尚不能做为超声判断子宫内膜良恶性的指标。     

Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy

ObjectiveWe investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression.MethodsWe examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age- and sex-matched control individuals using B-mode ultrasound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status.ResultsCompared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls.ConclusionUltrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm.     

Fracture risk assessment in children with benign bone lesions of long bones

BACKGROUNDFracture risk assessment in children with benign bone lesions of long bones remains poorly investigated. AIMTo investigate the risk factors for pathological fracture in children with benign bone lesions and to propose a modified scoring system for quantitative analysis of the pathologic fracture risk. METHODSWe retrospectively reviewed 96 pediatric patients with benign bone lesions. We compared radiographic and clinical features between 40 patients who had fractures through a benign bone lesion and 56 who had no fracture. Information including histological diagnosis, anatomical site, radiographic appearance, severity of pain, and lesion size was recorded for the patients. A modified scoring system was proposed to predict the risk of fracture. RESULTSThe univariate comparisons showed a significant difference between the fracture and non-fracture groups in terms of lesion type, pain, lesion-to-bone width, and axial cortical involvement of the patients (P < 0.05). Lesion type, pain, lesion-to-bone width, and axial cortical involvement were independently correlated with an increased risk of fracture. The mean score of the fracture group was 7.89, whereas the mean score of the non-fracture group was 6.01. The optimum cut-off value of the score to predict pathological fracture was 7. The scoring system had a sensitivity of 70% and a specificity of 80% for detecting patients with fractures. The Youden index was 0.5, which was the maximum value. The area under the receiver operator characteristic was 0.814.CONCLUSIONLesion type, pain, lesion-to-bone width, and axial cortical involvement are risk factors for pathological fracture. The modified scoring system can provide evidence for clinical decision-making in children with benign bone lesions. A bone lesion with a total score > 7 indicates a high risk of a pathologic fracture and is an indication for prophylactic internal fixation.     

超声引导下小儿肌间沟臂丛神经阻滞的应用研究

目的 探讨小儿肌间沟臂丛神经的超声解剖学特点及超声引导下小儿肌间沟臂丛神经阻滞的可行性和安全性.方法 36例拟行肱骨髁部骨折切开复位内固定术患儿,超声检查肌间沟内臂丛神经的分布,观察臂丛神经的声像图特点,测量神经干的直径与皮肤的距离,在超声引导下行肌间沟臂丛阻滞.结果 超声检查36例小儿肌间沟内臂丛神经均清晰显示,超声引导下以0.25%布比卡因行肌间沟臂丛阻滞麻醉有效率达100%.结论 臂丛神经超声解剖结构清晰,超声引导下小儿肌间沟臂丛神经阻滞安全可行.     

Amyloidosis of the thyroid gland: Role of ultrasonography

We studied the role of ultrasound assessment of the thyroid gland in detecting amyloid deposition in 9 patients confirmed to have renal amyloidosis because the thyroid gland is a readily accessible organ. Ultrasound examination of the thyroid gland showed a distinctive abnormal appearance in 7 patients. There was enlargement of one or both lobes of the thyroid, a high echogenicity approaching that of the surrounding connective tissue, and a very fine homogeneous echotexture similar to ground glass appearance. Four patients showed dilated follicles in the thyroid gland. The other two patients had normal ultrasound findings. Open wedge biopsy of the thyroid gland in 4 patients, (3 with abnormal ultrasound findings and 1 with normal ultrasound findings) showed amyloid deposits in the 3 patients with abnormal echo findings and no amyloid deposits in the 1 patient with normal findings. In 10 healthy individuals, 10 patients who were just initiated on maintenance hemodialysis and another 10 patients on dialysis for more than 1 year, the thyroid gland was of normal size and appearance in the ultrasound examination. We conclude that ultrasound examination by an experienced radiologist is a useful tool in the diagnosis of thyroid amyloidosis. © 1994 John Wiley & Sons, Inc.     

常规超声结合弹性成像对乳腺肿块良恶性的鉴别诊断价值

目的探讨常规超声结合弹性成像对乳腺肿块良恶性的鉴别诊断价值。方法 98例乳腺肿块患者共106个肿块,其中良性60个,恶性46个;术前行常规超声和弹性成像检查,并与术后病理结果对照。结果乳腺良性肿块弹性评分1~3分53例,占88.33%,平均(1.95±1.06)分;恶性肿块弹性评分4~5分35例,占76.09%,平均(4.02±0.95)分,两者差异有统计学意义(P0.05)。以弹性评分≥4分为界点,常规超声联合弹性成像诊断乳腺恶性肿块的敏感性、特异性、准确性分别为93.48%、88.33%、90.57%;联合应用诊断乳腺肿块良恶性的敏感性、准确性高于单独应用常规超声和弹性评分法(均P0.05),三者诊断特异性差异无统计学意义。结论乳腺良恶性肿块弹性评分分布情况各有特点,超声弹性成像联合常规超声能提高对乳腺肿块良恶性的鉴别诊断能力。     

彩色超声结合钼靶X线摄片标记定位对无体征乳腺肿块的定位价值

目的总结彩色多普勒超声(彩超)结合钼靶X线摄片标记定位对无临床体征乳腺肿块的定位诊断价值。方法 2010年3月-2011年10月对48例彩超和钼靶X线检查发现可疑病灶而无任何临床体征的患者,在彩超引导下穿刺病灶金属导丝标记定位,并结合钼靶X线检查切除病灶,同时快速冰冻活检明确诊断。结果 48倒中有11例确诊为乳腺癌(浸润性导管癌7例,导管内癌4例),37例为良性病变(纤维瘤5例,导管内乳头状瘤4例,乳腺腺病28例)。冰冻切片病理检查与术后石蜡病检结果一致。结论彩超引导下穿刺钢丝标记定位活检结合钼靶X线摄片,有效地解决了乳腺细小钙化和微小病灶活检术中精确定位和完整切除的难题,对无临床体征的微小乳腺肿块的诊断准确、可靠、实用。     

常规超声、超声造影及肿瘤标志物联合评分在肺周围型病变良恶性诊断中的价值

目的探讨常规超声、超声造影及肿瘤标志物联合评分在肺周围型病变良恶性鉴别诊断中的应用价值。方法选取我院经穿刺活检或术后病理检查确诊的肺周围型病变患者76例,其中良性30例,恶性46例,比较良、恶性病变常规超声、超声造影及肿瘤标记物单一检查方法评分及三种检查方法联合评分;绘制受试者工作特征(ROC)曲线,计算各评分对应的曲线下面积、截断值、诊断敏感性及特异性,并对其进行比较。结果肺周围型良、恶性病变常规超声、超声造影及肿瘤标记物联合评分分别为(6.90±2.27)分、(11.93±2.29)分,二者比较差异有统计学意义(P<0.05);ROC曲线显示常规超声、超声造影、肿瘤标记物单一检查方法评分及三种检查方法联合评分的截断值分别为1.5分、6.5分、1.5分及8.5分时,诊断肺周围型恶性病变的曲线下面积分别为0.801、0.887、0.754及0.921,对应的敏感性和特异性分别为89.1%、65.6%,71.7%、93.1%和76.1%、65.5%,95.7%、76.7%,其中三种检查方法联合评分的ROC曲线下面积、诊断敏感性均高于常规超声、超声造影、肿瘤标记物单一检查方法评分。结论常规超声、超声造影及肿瘤标志物联合评分对肺周围型病变良恶性鉴别诊断有较高价值。     

彩色及频谱多普勒超声在原位肝移植术后早期评价肝动脉血栓形成中的价值

目的：探讨肝移植术后早期的常规彩色及频谱多普勒超声检查在检出肝动脉血栓形成中的价值。方法：对38例原位肝移植的患者于术后2周内常规每日行彩色及频谱多普勒超声检查，根据彩色和频谱的异常情况判定有无肝动脉血栓形成，其中有8例行动脉造影，1例死亡病例行尸体解剖，所有存活病例均行随诊观察。结果：共6例患者经造影或尸体解剖证实有肝动脉血栓形成，其中5例多普勒超声表现为肝门及肝内均未探及肝动脉血流信号，1例表现为频谱圆钝且流速减低，其余病例均无肝动脉血栓形成。结论：肝移植术后常规行彩色及频谱多普勒超声检查在早期诊断肝动脉血栓形成中起着重要作用。     

乳腺超声随访生长型BI-RADS3类病变与恶性肿瘤相关的特征

目的：分析乳腺超声随访生长型乳腺影像报告和数据系统(BI-RADS)类病变与恶性肿瘤相关的特征。方法：选择2018年11月~2021年11月医院随访115例生长型BI-RADS3类病变患者作为研究对象,患者诊断与随访均行乳腺超声检查,分析患者随访期间生长型BI-RADS3类病变变化,生长型BI-RADS3类病变变化与超声检查表现相关性,生长型BI-RADS3类病变恶性化影响因素,超声检查表现对患者病情变化预测价值。结果：115例患者随访结束证实良性91例,恶性24例;良性与恶性患者最大径增长率、前后径增长率、边界及内部回声等超声表现比较存在统计学意义(P＜0.05);多因素Logistic回归分析,结果显示内部回声不是生长型BI-RADS3类病变恶性化影响因素(P＞0.05),最大径增长率、前后径增长率以及边界是生长型BI-RADS3类病变恶性化影响因素(P＜0.05);受试者工作特征曲线显示,最大径增长率、前后径增长率以及边界用于预测生长型BI-RADS3类病变良恶性曲线下面积(AUC)分别为0.635、0.820、0.598,三指标联合AUC为0.868。结论：生长型BI-RADS3类病变病情变化与随访超声表现关系密切,而部分超声表现用于预测BI-RADS3类病变变化有一定价值。     

Detection of liver involvement in inflammatory bowel disease by abdominal ultrasound scan

Summary Fifty patients with ulcerative colitis, 24 with Crohn's disease, and 50 controls were studied by liver function tests and abdominal ultrasound scan. Twentytwo percent of ulcerative colitis patients, 29% of Crohn's disease patients, and none of the controls showed abnormal liver function tests. All subjects with abnormal liver function tests also had changes in ultrasound liver scan, consisting of hepatomegaly and/or a dysechoic liver echo pattern. Furthermore, the same ultrasound changes were observed, in the absence of any liver function test abnormalities, in 58% of ulcerative colitis patients, 50% of Crohn's disease patients and 6% of controls (P<0.0005, inflammatory bowel disease versus controls). Overall, some evidence of liver involvement, as judged by abnormal liver tests and/or abnormal ultrasound liver scan, was detected in about 80% of inflammatory bowel disease patients. Six patients with minor abnormalities of liver function tests underwent liver biopsy and 5 of them had pericholangitis. Ultrasound liver scan may provide a useful tool to evaluate the occurrence of liver involvement in inflammatory bowel disease patients.     

杜氏进行性肌营养不良患儿常速行走的步态特征

背景：对杜氏进行性肌营养不良患儿异常步态的生物力学研究目前尚不多见,且缺乏步态的足底压力特征结果报道.目的：分析杜氏进行性肌营养不良患儿常速行走的步态运动学及足底压力分布特征.方法：利用VICON红外光点捕获系统,采集10名杜氏进行性肌营养不良患儿及10名正常儿童裸足常速行走的三维运动学数据,并利用Medilogic足底压力测试系统记录支撑足的足底压力分布数据.结果与结论：杜氏型肌营养不良组行走时的步长明显小于正常对照组,而步宽和重心摇晃幅度则大于正常对照组;杜氏型肌营养不良组步态的双支撑期所占的周期比例大于正常对照组,摆动末期所占的周期比例则小于正常对照组;杜氏型肌营养不良组髋关节最大伸角小于正常对照组,髋关节最大屈角大于正常对照组,摆动相最大膝屈角小于正常对照组,着地时踝关节跖屈角大于正常对照组;杜氏型肌营养不良组在行走过程中最大足底压力小于正常对照组,最大压力的分布向足前区外侧偏移.结果表明,步态周期时间百分比可作为杜氏型肌营养不良患儿行走能力的评价指标,杜氏型肌营养不良患儿在常速行走过程中所表现出的各种非正常的步态特征可能归因于下肢各关节伸肌群力量不足,部分患儿踝关节呈明显的马蹄足内翻也是造成步态异常的重要原因之一.     

Detection of liver involvement in inflammatory bowel disease by abdominal ultrasound scan.

Fifty patients with ulcerative colitis, 24 with Crohn's disease, and 50 controls were studied by liver function tests and abdominal ultrasound scan. Twenty-two percent of ulcerative colitis patients, 29% of Crohn's disease patients, and none of the controls showed abnormal liver function tests. All subjects with abnormal liver function tests also had changes in ultrasound liver scan, consisting of hepatomegaly and/or a dysechoic liver echo pattern. Furthermore, the same ultrasound changes were observed, in the absence of any liver function test abnormalities, in 58% of ulcerative colitis patients, 50% of Crohn's disease patients and 6% of controls (P less than 0.0005, inflammatory bowel disease versus controls). Overall, some evidence of liver involvement, as judged by abnormal liver tests and/or abnormal ultrasound liver scan, was detected in about 80% of inflammatory bowel disease patients. Six patients with minor abnormalities of liver function tests underwent liver biopsy and 5 of them had pericholangitis. Ultrasound liver scan may provide a useful tool to evaluate the occurrence of liver involvement in inflammatory bowel disease patients.     

Assessment of quadriceps femoris muscle atrophy and hypertrophy in neuromuscular disease in children

Midthigh muscle and subcutaneous tissue thickness were measured using a real-time linear array ultrasound scanner in 50 patients attending our Muscle Clinic; 28 had muscular dystrophy and 21 spinal muscular atrophy. In muscular dystrophy the muscle thickness was found to be normal or increased, whereas in spinal muscular atrophy it was reduced, with an associated increase in subcutaneous tissue thickness that did not relate to obesity. Measurement of muscle and subcutaneous tissue thickness provides a more accurate way of assessing muscle atrophy and hypertrophy than clinical assessment, and is a useful guide in the discrimination between muscular dystrophy and spinal muscular atrophy.     

经直肠超声引导下经会阴前列腺10点穿刺活检术对前列腺癌的临床应用

目的探讨经直肠超声（TRUS）引导下经会阴前列腺10点穿刺活检术对前列腺癌的诊断价值。方法对105例前列腺特异性抗原（PSA）〉4 ng/mL、直肠指检异常或TRUS检查发现异常回声的患者行经会阴前列腺10点穿刺活检术,并与病理结果对照分析。结果穿刺活检病理结果证实为前列腺癌42例,阳性率40.0%;前列腺增生50例,占51.4%;不典型增生9例,占8.6%。结论 TRUS引导下经会阴前列腺10点穿刺准确率高,并发症少而轻,是诊断前列腺癌的重要方法之一。