彩超诊断胎儿唇裂的价值

目的:探讨彩超诊断胎儿唇裂的价值.方法:对1500例孕18周以上的孕妇进行常规彩超检查,并尽可能显示及观察胎儿颜面部.结果:检出胎儿唇裂11例,捡出率为100%.5例为唇裂合并腭裂,6例为单纯唇裂.结论:彩超对评价胎儿面部畸形具有重要作用,产前超声诊断胎儿唇裂切实可行,是诊断胎儿畸形的首选方法.     

超声在诊断胎儿颜面畸形中的应用价值及颜面部畸形与染色体异常的关系研究

目的:探究超声在诊断胎儿颜面畸形中的临床价值,进一步分析颜面部畸形与染色体异常的关系。方法:回顾性分析2018年12月-2019年7月在笔者医院超声科行产前筛查的1533例孕妇的资料,以超声筛查胎儿颜面部异常者(超声异常组,n=30)和超声筛查胎儿颜面部正常但具有高危因素者(超声正常高危组,n=66)作为研究对象。记录超声及染色体检查结果,分析颜面部畸形与染色体异常的关系。结果:30例超声筛查颜面部异常胎儿中,8例单纯颜面部异常,22例颜面部异常合并其他异常。超声异常合并其他异常组NT厚度显著高于超声单纯异常组和超声正常高危组,差异有统计学意义(P<0.05)。超声异常组胎儿染色体异变率为20.00%,显著高于超声正常高危组的4.55%,差异有统计学意义(P<0.05)。结论:产前筛查中应用超声诊断可以明显提高染色体异常胎儿的检出率,值得临床推广应用。     

轴型扩张额部皮瓣修复面部多部位缺损

目的探讨利用轴型扩张额部皮瓣修复颜面多处部位缺损畸形的方法及效果。方法根据颜面缺损的大小和形状,在发际线后将长方形100～350ml的扩张器,放置在帽状腱膜深面进行注水扩张,结合使用眶上、滑车上、颞浅血管轴形皮瓣转移修复颜面多处缺损。结果共13例,修复鼻唇缺损7例,均为烧伤后鼻唇畸形,其中以颞浅血管为蒂的2例,以眶上、滑车上神经血管皮瓣修复鼻上唇缺损5例;滑车上血管束皮瓣修复鼻部缺损,剩余的随意皮瓣修复额畸形6例,其中色素痣1例,神经纤维瘤1例,血管瘤1例,瘢痕3例。所有皮瓣均成活良好,无1例坏死,手术后皮瓣颜色质地和周围相近,供瓣区瘢痕轻,随访2周至3年,效果满意。结论扩张额部皮瓣结合额部多血管供应的轴型皮瓣转移是一种修复颜面多处部位畸形的有效手段。     

胎儿颜面部畸形高频超声尸体解剖学研究

目的研究胎儿尸体颜面部畸形产后高频超声检查的准确性。方法对产前超声检查诊断为严重畸形或染色体检查为异常而引产、且其父母同意尸体解剖的71例引产胎儿颜面部行产后高频超声检查，并将结果与尸体解剖对比。结果产后超声发现71例中共有24例胎儿存在颜面部畸形，共有颜面部畸形51处，经尸体解剖证实，PMFU灵敏度、准确率均达100％。从不破坏尸体完整性、操作的简便性、获得结果的快捷性方面进行评估，51处颜面部畸形中，PM—FU在22处优于尸体解剖。结论产后超声检查为胎儿尸体解剖学检查开辟了新领域，可以作为尸体检查的选择方法之一，在胎儿尸体解剖遇到障碍时代替运用，或在尸体解剖前运用作为尸体解剖思路、步骤、方法等的指导。     

单侧唇裂术后鼻唇畸形的修复技术

目的　探讨单侧唇裂术后鼻唇畸形的手术方法 ,探讨其病理解剖特点 ,以寻求治疗该病症状群的针对性技术。方法　通过鼻翼软骨外侧脚交叉转位、移位 ,结合硅胶假体或ePTFE的应用 ,成形鼻尖、鼻翼 ;将鼻小柱基部与裂侧鼻翼缝合建立联系 ,以矫正鼻小柱、裂侧鼻翼和鼻孔的变形 ;利用初次手术的瘢痕瓣 ,结合局部口轮匝肌 ,成形裂侧人中嵴 ;红唇口轮匝肌束状瓣重叠缝合 ,结合皮肤黏膜Z - plasty ,成形唇珠 ,矫正红唇畸形。 结果　本组 32例 ,2 8例具有通常临床表现者效果好 ,4例 (12 .5 % )效果差。该 4例存在白唇、红唇组织量严重不足。结论　应用此方法可以治疗具有通常临床表现的单侧唇裂术后鼻唇畸形 ,但对于组织量严重不足者不适用     

单侧唇裂术后鼻唇畸形的修复技术

目的探讨单侧唇裂术后鼻唇畸形的手术方法,探讨其病理解剖特点,以寻求治疗该病症状群的针对性技术.方法通过鼻翼软骨外侧脚交叉转位、移位,结合硅胶假体或ePTFE的应用,成形鼻尖、鼻翼;将鼻小柱基部与裂侧鼻翼缝合建立联系,以矫正鼻小柱、裂侧鼻翼和鼻孔的变形;利用初次手术的瘢痕瓣,结合局部口轮匝肌,成形裂侧人中嵴;红唇口轮匝肌束状瓣重叠缝合,结合皮肤黏膜Z-plasty,成形唇珠,矫正红唇畸形.结果本组32例,28例具有通常临床表现者效果好,4例(12.5%)效果差.该4例存在白唇、红唇组织量严重不足.结论应用此方法可以治疗具有通常临床表现的单侧唇裂术后鼻唇畸形,但对于组织量严重不足者不适用.     

牙槽嵴裂和唇裂继发唇鼻畸形的同期联合矫治

目的 探讨牙槽嵴裂和唇裂继发唇、鼻畸形矫治的方法. 方法 对唇、腭裂术后畸形患者同期行牙槽嵴裂和唇裂继发唇、鼻畸形联合矫正. 结果 2004年～2007年,于临床应用37例.33例牙槽受植床创口一期愈合,3例松质骨外露,经清除外露骨和冲洗换药后愈合.本组患者术后正面观唇部饱满,红唇两侧高度基本对称,干湿唇线连续;仰视位鼻翼基底部高度恢复良好,两侧基本对称,鼻孔方向一致,但患侧鼻孔仍稍小于健侧. 结论 同期联合矫治牙槽嵴裂和唇裂继发唇、鼻畸形效果良好.     

二维、三维超声联合应用在胎儿唇腭裂畸形中的诊断价值

目的探讨二维、实时三维超声成像相结合对胎儿唇腭裂的诊断价值。方法采用全数字彩色多普勒超声诊断仪,对3752例21～27周的胎儿鼻唇部进行二维探测及实时三维重建。结果发现唇（腭）裂14例,漏诊2例。二维、实时三维超声成像相结合率达100%,诊断率达99.95%。结论二维、实时三维超声成像相结合可明显提高诊断率。     

MRI评估胎儿神经系统畸形

目的探讨MRI诊断胎儿中枢神经系统畸形的价值及其应用指征。方法回顾性分析450例中枢神经系统畸形胎儿的超声和MRI资料,与产后诊断或尸体检查结果进行对照。结果 450例患者共检出神经系统病变594处,包括单纯侧脑室增宽99处、脑积水21处、小脑延髓池增宽59处、Dandy-Walker畸形/小脑发育不良45处、胼胝体发育不良/缺如67处、透明隔增宽6处、脑白质软化15处、室管膜下囊肿/出血30处、颅内出血26处、颅内实质性病变14处、蛛网膜囊肿60处、孔洞脑13处、脑裂14处、积水型无脑畸形3处、脑水肿1处、平滑脑4处、脑组织发育不良3处、全前脑20处、小头畸形8处、头形异常3处、开放性神经管缺陷68处、脑血管畸形5处、透明隔缺如2处、颅底凹陷症1处、枕骨大孔窄1处、囊性松果体1处、脉络丛病变5处。超声正确诊断487处,准确率81.99%(487/594),MRI正确诊断551处,准确率92.76%(551/594)。结论对于胎儿神经系统各种病变,超声和MRI各有优劣,明确MRI应用指征有助于指导合理地选择产前MRI,从而明确诊断。     

前唇皮下组织瓣修复双侧唇裂术后继发口哨畸形和鼻底凹陷

目的 探求一种新的修复口哨畸形和鼻底凹陷方法,提高双侧唇裂术后继发畸形治疗效果.方法 应用前唇上方皮下组织双侧C瓣修复鼻底凹陷畸形,两侧口轮匝肌向中线对合,重建口轮匝肌连续性,同时前唇下方皮下组织Λ瓣向内下翻转再造唇珠.结果 2010年6月至2012年1月,采用上述方法修复双侧唇裂继发口哨畸形和鼻底凹陷30例,所有病例术后全部一期愈合,经3 ～18个月随访,鼻底、唇部形态明显改善,唇珠明显,上唇形态自然,与下唇关系协调.结论 前唇上方皮下组织双侧C瓣及前唇下方皮下组织Λ瓣,可以改善鼻底凹陷,加强唇珠形态;两侧口轮匝肌在中线对位缝合可以重建口轮匝肌连续性.     

超声造影监测原发性肝癌射频消融术的疗效

目的 观察对比剂超声造影（contrast-enhanced ultrasound,CEUS）成像技术对原发性肝癌的诊断价值,以及对肝癌射频消融术治疗效果的评价.方法 适合行射频消融治疗的46例原发性肝癌患者,观察射频消融术前普通超声、CT与CEUS的差别;同时以CT作为标准,对比射频消融术后行CEUS的价值.结果 CEUS与CT检查对原发性肝癌术前诊断价值基本相同,两者的阳性似然比分别为1.26和1.31,敏感度、特异度分别为97%、91%和23%、31%,而灰阶超声检查诊断原发性肝癌的阳性似然比为0.99,敏感度、特异度分别为76%和23%与前两者相比较稍差.射频消融术后CEUS对残存病灶诊断的敏感度和特异度分别为60%和90%,阳性似然比6.18,阴性似然比为0.44,与CT相比差异有统计学意义（P=0.012）.所有患者随访1～9个月,平均5个月,目前均存活;术后1个月射频消融灶周围肿瘤残留3例（6.5%）;术后3、6、9个月复发率分别为8.7%（4/46）、11%（5/46）、11%（5/46）.结论 CEUS与CT结合对诊断原发性肝癌和射频消融术后的复查具有实际应用价值.     

Appendizitissonographie durch chirurgen — Erfahrungssache? Eine prospektive studie

A number of studies have shown that ultrasound has an advantage over physical examination in the diagnosis of acute appendicitis. Most of these studies were conducted by experts in the field of ultrasonography. In this study the influence of experience on the results of the sonography of actue appendicitis were evaluated. All 203 patients admitted to our unit between December 1990 and December 1992 were examined physically and sonographically by a team of surgeons consisting of one experienced sonographer and six inexperienced surgical trainees. Laparotomy was performed in 136 patients (46%). Appendicitis was demonstrated histologically in 119 cases (39.4%). Initial clinical findings were positive in 87 (28.8%). Sonography was positive in 119 patients (39.4%). The 163 patients not operated on demonstrated other pathology on ultrasound in 60 cases (19.9%). The rate of negative laparotomies amounted to 7.2% in our study. Sensitivity and specificity for the sonographic diagnosis were 92% and 95%, respectively. They were only 81% and 80% for physical examination. Overall accuracy was 92% for sonography. Sensitivity and specificity for the inexperienced surgeons were 87% and 93%, respectively, while the experienced surgeon reached values of 97% and 98%, respectively. The results of both groups are comparable with values in the literature, suggesting that ultrasound evaluation of appendicitis is not a diagnostic tool limited to a few experienced sonographers.     

三维显微定量超声在乙型肝炎肝硬化患者病情评价中的应用

目的初步评估三维显微定量超声对于乙型肝炎肝硬化及肝功能失代偿的诊断价值。 方法收集2016年1月至2017年12月青海省第四人民医院住院患者共270例，分为慢性乙型肝炎（CHB）组（102例）、代偿期肝硬化（LC）组（84例）和失代偿期LC组（84例）。入组患者均行三维显微定量超声检查、二维剪切波弹性成像检查及肝功能、血常规等检查。计算患者的天门冬氨酸氨基转移酶和血小板比率指数（APRI）评分。比较3组患者间三维显微定量超声、二维剪切波弹性成像（2D-SWE）和APRI评分差异。评价三维显微定量超声、2D-SWE和APRI评分指标对于LC以及LC相关肝功能失代偿的预测价值、灵敏度和特异度。 结果3组患者三维显微定量超声和肝脏硬度差异均有统计学意义（F = 313.52、173.36，P均< 0.001）。三维显微定量超声预测LC的受试者操作曲线下面积为0.925（95%CI：0.885～0.965，P < 0.001），取三维显微定量超声临界值为11.5分，其诊断LC的敏感度和特异度分别为85.7%和90.2%；三维显微定量超声预测LC相关肝功能失代偿的受试者操作曲线下面积为0.850（95%CI：0.795～0.905、P < 0.001），取三维显微定量超声临界值为16.5分，其诊断肝功能失代偿的敏感度和特异度分别为60.7%和89.3%。 结论本研究建立了基于三维显微超声技术的定量诊断标准，该标准可用于LC及失代偿LC的辅助诊断。     

早孕期颅脑超声诊断胎儿颅内畸形

目的探讨早孕期颅脑超声诊断胎儿颅内畸形的价值。方法回顾性分析3800胎早孕期胎儿的常规颅脑超声资料,与随访结果相对照。结果产前胎儿颅脑超声共发现颅脑畸形51胎。其中无脑儿13胎,未见圆形颅骨环、无大脑组织结构;露脑畸形6胎,见大部分颅盖骨缺失,脑组织外露;脊柱裂2胎,见"柠檬头"征;全前脑5胎,见单个扩张的脑室,无大脑镰;脑膜脑膨出13胎,见颅骨高回声环延续性中断,缺损处见局部向外突出囊性物;颈部水囊瘤12胎,见头颅颈后多房性囊肿。漏诊露脑畸形2胎、全前脑6胎、脊柱裂2胎,均于中孕期检出。所有畸形胎儿均经引产获证实,其中28胎合并染色体异常。结论早孕期胎儿颅脑超声在检出胎儿颅脑畸形中具有重要临床价值。     

Increased echogenicity as a predictor of poor renal function in children with grade 3 to 4 hydronephrosis

PURPOSE: Prenatally diagnosed hydronephrosis is a common finding that often requires further radiological evaluation to determine whether it is associated with compromised renal function. We hypothesize that findings on postnatal renal sonography may help determine which patients require more extensive evaluation of renal function in the assessment for prenatal hydronephrosis. We show that increased renal parenchymal echogenicity on postnatal US is a strong predictor of compromised renal function. MATERIALS AND METHODS: A total of 97 patients diagnosed with prenatal hydronephrosis presented to our institution for furosemide (99m)technetium MAG3 renogram evaluation of renal function between January 2000 and December 2001. All patients had SFU grade 3 to 4 hydronephrosis noted on postnatal US before age 6 months. For these 97 patients (178 renal units) we correlated the degree of renal parenchymal echogenicity and parenchymal thinning on the first postnatal sonogram with the differential renal function as determined by furosemide MAG3 renography. RESULTS: Among 97 patients diagnosed with prenatal hydronephrosis 10 of 20 renal units (50%) with markedly increased echogenicity had severely decreased relative renal function of less than 10%, while 136 of 151 (90%) with normal echogenicity exhibited normal relative renal function of 40% or greater. Increased echogenicity on US yielded a sensitivity of 100% and specificity of 99% for predicting relative renal function of 20% or greater. In predicting relative renal function of 40% or less sensitivity and specificity were 48% and 100%, respectively. CONCLUSIONS: Increased renal parenchymal echogenicity found on the first postnatal ultrasound can be used as a predictor of impaired relative renal function as measured on furosemide MAG3 renogram.     

产前超声发现胎儿透明隔腔异常的临床意义

目的分析产前超声发现胎儿透明隔腔(CSP)异常的临床意义。方法回顾性对比分析53胎产前超声发现CSP异常胎儿的超声及头部MRI。结果产前超声检出53胎CSP异常,包括26胎CSP未显示、18胎CSP狭小、6胎CSP增宽及3胎CSP形态异常,其中12胎产前超声及头部MRI均提示神经系统发育异常。产前超声未能显示CSP的26胎中,8胎存在神经系统异常,包括单纯性完全型胼胝体缺如3胎,完全型胼胝体缺如合并脑膨出和四肢长骨短小1胎,完全型胼胝体缺如伴脑裂畸形或叶状前脑无裂畸形各1胎,脑积水或额叶多小脑回致CSP受压未显示各1胎。产前超声显示CSP狭小的18胎中,1胎为单纯性部分型胼胝体缺如并经MRI证实。产前超声发现CSP增宽的6胎中,MRI均未检出其他神经系统异常。3胎超声显示CSP形态异常胎儿中,MRI示2胎孤立性透明隔部分发育不良及1胎部分型胼胝体缺如。结论产前超声发现胎儿CSP异常是诊断神经系统发育异常的重要线索。     

上尿路腔内导管超声的临床应用评价

目的 评价腔内导管超声诊断上尿路疾病的可行性和有效性. 方法上尿路疾病患者68例.男30例,女38例.年龄17～81岁,平均58岁.采用频率10 MHz、外径8 F微探头腔内导管超声探测显示肾盂及周围病变48例,输尿管及周围病变20例;其中双侧检测2例,随访检测3例,共73例次.根据患者病变病理或临床随访结果评价腔内导管超声诊断的有效性.结果 68例患者中,成功检测62例(91%),其中肾盂及周围病变46例(96%)、输尿管及周围病变16例(80%).导管超声检出肾盂及周围病变异常41例(89%),其中经手术病理诊断28例、经临床随访和根据其他检查确诊7例、未被证实6例;检出输尿管及周围病变异常者12例(75%).20例输尿管及周围病变者中经手术病理诊断或临床随访和根据其他检查确诊18例,14例行输尿管手术,输尿管微结石4例采用保守治疗.结论 上尿路腔内微探头导管超声探测能清晰显示腔内病灶的形态、大小、回声和部位,而且能精细、准确、实时地显示腔外结构,为上尿路疾病诊断提供了一种新方法.     

Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases

We are beginning to understand the molecular biology of hydrocephalus and its related diseases. X-linked hydrocephalus (XLH), holoprosencephaly (HPE), Dandy–Walker malformation (DWM), and neural tube defect (NTD) can all be discussed with respect to their available molecular genetics knowledge base and its clinical applications. XLH is single gene disorder caused by mutations in the neural cell adhesion molecule-encoding L1CAM (L1) gene. Our knowledge of the molecular basis of XLH is already being applied clinically in disease diagnosis, disease classification, and prenatal diagnosis. However, the molecular mechanism underlying XLH-related hydrocephalus still needs to be clarified. Sixteen causative genes for HPE have been identified, of which mutations are most often found in SHH, ZIC2, SIX3, and TGIF. Genetic interactions, gene complexity, and the wide variety of HPE phenotypes and genotypes are topics for future study. For DWM, two important loci, 3q24, which includes the FOXC1 gene, and 6q25.3, which includes the ZIC1 and ZIC4 genes, were recently identified as causative areas. The planar cell polarity (PCP) genes CELSR1, CELSR2, VANGL1, and VANGL2 have been implicated in NTD; these genes have roles in neural tube closure and ependymal ciliary movement.     

Sonographic evaluation of the rotator cuff. Accuracy in patients without prior surgery

Since 1982 a sonographic technique has been devised to evaluate the integrity of the rotator cuff. In a series of 139 shoulders in 134 consecutive patients without prior surgery, sonographic results were correlated with surgical findings and/or arthrography. When sonography was compared with surgical findings (n = 90 shoulders), the overall accuracy was 95%. The sonographic diagnosis was the same as the arthrographic diagnosis in 91% of the cases (n = 50). Cuff lesions were also created in two cadavers, and images were made to confirm sonographic appearances. Because in the authors' experience sonography is accurate, safe, painless, rapid, and inexpensive, it has now been adopted as the primary study for the examination of the rotator cuff at the authors' institution. Arthrography is recommended in cases in which sonography is negative but there is significant clinical evidence of rotator cuff tear.     

Prenatal ultrasound detection of cleft lip, or cleft palate, or both, in southern Sweden, 2006-2010

It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential.