基于网络的颅面部计算机三维重建和虚拟解剖

目的:研究基于网络重建颅面部组织的三维图像,并进行虚拟解剖。方法:2例人头面部 Light-Speed CT扫描的原始数据,经对原始图像传输,读取后,兴趣区选择,利用Java编制基于网络运行的三维重建软件对其进行重建和解剖虚拟。结果:重建出的颅面部图像逼真,分层显示,能任意角度旋转,任意厚度多次切割和恢复。同时能三维显示切除的组织结构。结论:实现了颅面部组织在Interner网上的重建和解剖虚拟,为计算机辅助解剖提供一条新的软件系统。     

Congenital abnormalities in two sibs exposed to valproic acid in utero

Neural tube, craniofacial, and other congenital abnormalities have been described in infants born to mothers with epilepsy who were treated with valproic acid (VPA) during pregnancy. The pathogenetic relationship between the congenital abnormalities and exposure to VPA is not clear. We describe 3 sibs born to a mother with epilepsy. Only the 2 sibs who were exposed to VPA in utero had certain of the characteristic craniofacial changes described in previous reports of children with similar exposure. In addition, the 2 affected children had other craniofacial and skeletal abnormalities which have not been reported previously as teratogenic sequelae of VPA exposure. Many of the minor anomalies present in the 2 affected patients resemble those observed in rhesus monkeys exposed to VPA in utero. This suggests that the abnormalities observed in the 2 children may have been a consequence of intrauterine exposure to VPA.     

颅面立体结构三维可视化研究及其意义

目的：为实现颅面结构三维可视化并对其全面、准确的定性和定量分析。方法：应用visual C^ 语言设计开发出一个多功能应用软件包，其功能模块包括：三维重建、精确测量、电子解剖等。借助所开发的软件包，将面向多边形的表面绘制显示方法应用于颅面软组织、骨组织结构的三维重建研究。结果：由二维断层CT图像构建出颅面皮肤软组织和骨组织立体结构模型，其立体模型可旋转以利于不同角度的观察分析，可以任一剖面显示及操作其局部结构。结论：为颅面外科临床提供了定性和定量诊断分析的新技术，实现了颅面电子解剖。为解剖学、人类学和医学美学研究提供了立体分析模型和新方法。     

Alignment of CT images of skull dysmorphology using anatomy-based perpendicular axes

Rigid body registration of 3D CT scans, based on manual identification of homologous landmarks, is useful for the visual analysis of skull dysmorphology. In this paper, a robust and simple alignment method was proposed to allow for the comparison of skull morphologies, within and between individuals with craniofacial anomalies, based on 3D CT scans, and the minimum number of anatomical landmarks, under rigidity and uniqueness constraints. Three perpendicular axes, extracted from anatomical landmarks, define the absolute coordinate system, through a rigid body transformation, to align multiple CT images for different patients and acquisition times. The accuracy of the alignment method depends on the accuracy of the localized landmarks and target points. The numerical simulation generalizes the accuracy requirements of the alignment method. Experiments using a human dried skull specimen, and ten sets of skull CT images (the pre- and post-operative CT scans of four plagiocephaly, and one fibrous dysplasia patients), demonstrated the feasibility of the technique in clinical practice.     

Simulation of four-dimensional CT images from deformable registration between inhale and exhale breath-hold CT scans

PURPOSE: We propose to simulate an artificial four-dimensional (4-D) CT image of the thorax during breathing. It is performed by deformable registration of two CT scans acquired at inhale and exhale breath-hold. MATERIALS AND METHODS: Breath-hold images were acquired with the ABC (Active Breathing Coordinator) system. Dense deformable registrations were performed. The method was a minimization of the sum of squared differences (SSD) using an approximated second-order gradient. Gaussian and linear-elastic vector field regularizations were compared. A new preprocessing step, called a priori lung density modification (APLDM), was proposed to take into account lung density changes due to inspiration. It consisted of modulating the lung densities in one image according to the densities in the other, in order to make them comparable. Simulated 4-D images were then built by vector field interpolation and image resampling of the two initial CT images. A variation in the lung density was taken into account to generate intermediate artificial CT images. The Jacobian of the deformation was used to compute voxel values in Hounsfield units. The accuracy of the deformable registration was assessed by the spatial correspondence of anatomic landmarks located by experts. RESULTS: APLDM produced statistically significantly better results than the reference method (registration without APLDM preprocessing). The mean (and standard deviation) of distances between automatically found landmark positions and landmarks set by experts were 2.7(1.1) mm with APLDM, and 6.3(3.8) mm without. Interexpert variability was 2.3(1.2) mm. The differences between Gaussian and linear elastic regularizations were not statistically significant. In the second experiment using 4-D images, the mean difference between automatic and manual landmark positions for intermediate CT images was 2.6(2.0) mm. CONCLUSION: The generation of 4-D CT images by deformable registration of inhale and exhale CT images is feasible. This can lower the dose needed for 4-D CT acquisitions or can help to correct 4-D acquisition artifacts. The 4-D CT model can be used to propagate contours, to compute a 4-D dose map, or to simulate CT acquisitions with an irregular breathing signal. It could serve as a basis for 4-D radiation therapy planning. Further work is needed to make the simulation more realistic by taking into account hysteresis and more complex voxel trajectories.     

基于眼眶容积计算的单侧颅面畸形修复手术的术前设计系统

颅面骨畸形手术是一种相当复杂的外科手术,为了确保手术成功,通常需要进行细致而全面的术前设计。然而,多数临床医生很难根据简单的二维CT、X光图片设计出令病人信服满意的手术方案。在本研究中,针对单侧眼眶畸形情况提出了基于三维重建技术和眼眶容积测量方法的虚拟手术系统。此系统应用三维重建技术实现了骨骼位置的重置,而双眼眶容积测量结果将用来指导骨骼位置的重置。文中所给出的一名患者应用该系统进行术前手术设计的关键过程以及该患者术前、术后的对比图片用以表明该系统在辅助外科医生进行术前设计的有效性。     

Two-dimensional and three-dimensional imaging of the in vivo lung: Combining spiral computed tomogrpahy with multiplanar and volumetric rendering techniques

We applied multiplanar techniques and a modified version of our volumetric rendering program for three-dimensional imaging to single-breath hold spiral computed tomography (CT) datasets to generate two- and three-dimensional (2-D and 3-D) images of the in vivo lung. We report details of the combined 2-D/3-D spiral CT technique along with three representative cases from our initial experience.     

Size and shape changes during late fetal growth (137-157 gestational days) in the pigtailed macaque (Macaca nemestrina) craniofacial complex: an application using three-dimensional coordinate data and finite element scaling analysis

Form changes within the fetal pigtailed macaque (Macaca nemestrina) craniofacial complex was documented using finite element scaling analysis (FESA) and three-dimensional (3D) coordinate data for 35 craniofacial landmarks. Coordinate data were digitized from 3D reconstructions of computed tomography (CT) images and 2D axial slices. Twenty-two fetal pigtailed macaques ranging in age from 137 to 157 gestational days were included (in this species, birth is estimated at 170 gestational days). The null hypothesis that the craniofacial complex grows with isometry during late fetal growth of the craniofacial complex was tested (P < 0.05), and the prediction that morphological change along an anteroposterior axis dominates late fetal growth was also investigated. The null hypothesis was rejected, indicating that allometric growth is present during late fetal growth. Growth along an anteroposterior axis is localized in the palate and mandible. The neurocranium grows along a superoinferior axis, while the neurofacial junction displays growth along both the anteroposterior and superoinferior axes. Mediolateral changes are localized between asterions, the external auditory meati, and maxillary and mandibular alveolar points. Finally, a 3D model of craniofacial growth for this species was created, localizing size and shape changes that occur during late fetal growth for each of the 35 craniofacial landmarks defined in this study.     

MSCT增强扫描与三维重建技术对原发性肝癌合并肝动脉门静脉瘘的诊断价值分析

目的探讨MSCT肝脏增强扫描及肝动脉血管三维重建技术对原发性肝癌合并肝动脉门静脉瘘的诊断价。方法回顾分析32例诊断为原发性肝癌合并动脉门静脉瘘患者的MSCT双期扫描与血管三维重建技术的影像学表现。血管三维重建方法有2种：表面遮盖成像（SSD）和最大强度投影（MIP）。结果中央型肝动脉门静脉瘘5例，周围型肝动脉门静脉瘘27例。根据肝癌并动脉门静脉瘘患者的MSCT增强扫描表现，其程度分为3种：轻度13例，中度15例，重度4例。结论MSCT肝脏增强扫描与三维重建技术是诊断与评价肝癌动脉静脉瘘的有效手段．具有相当的优越性。     

彩超筛查法对产前胎儿颅脑畸形诊断价值

目的:探讨彩超筛查法对产前胎儿颅脑畸形的诊断价值,为临床处置提供决策信息.方法:对13760例妊娠18~40周孕妇常规超声产前检查,对其中145例疑诊有胎儿畸形者采用彩超筛查.回顾性分析确诊为胎儿颅脑畸形病例的声像图特征.结果:13760例胎儿中,产前采用彩超筛查法诊断颅脑畸形145例,均经引产或出生后证实,彩超筛查法诊断符合率为100%(145/145).其中87例合并其他系统畸形,产前诊断79例,漏诊8例,漏诊率5.52%.结论:彩超筛查法对产前胎儿颅脑畸形的诊断具有重要的临床价值.但合并其他系统畸形检出的准确性尚需进一步提高.     

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mild cases. In the extremely mild case presented here, specific mitotic abnormalities were detected and proved to be very helpful, since Roberts syndrome/SC phocomelia could be diagnosed after finding premature centromere separation and somatic aneuploidy at routine karyotyping. We discuss these and other mitotic cytogenetic abnormalities that can be of significant diagnostic importance, but which will be missed if only array studies are performed. We also discuss the difference between premature centromere separation and premature (sister) chromatid separation.     

颅面骨三维定量测量及其临床意义

目的：研究当下颌骨处于正常牙尖交错位时,正常成人颅面骨三维空间的相对位置关系。方法：选择６０名正常范围的志愿者,在正常牙尖交错位状态下行螺旋ＣＴ扫描,三维影像重建。在ＥＡＳＹＶＩＳＩＯＮ工作站上对重建的颅面骨影像进行三维测量。在三维骨结构上定点３７个,对有意义的两点间直线距离三点所形成的角度,计算机自动测量,并显示数据。结果：颅面骨ＣＴ三维测量较为客观和精确地反映出在正常牙尖交错位时颅面骨三维空间的相对位置关系,数据比值的标准差远小于数据范围的标准差。结论：计算机三维定量测量精确性高。本研究提供正常数据,为颅骨骨畸形患者提供参考,颅面骨三维重建有助于正颌外科诊断和确定手术方案术前后对比。     

Two algorithms for the three-dimensional reconstruction of tomograms

Three-dimensional (3-D) surface reconstructions provide a method to view complex anatomy contained in a set of computed tomography (CT), magnetic resonance imaging (MRI), or single photon emission computed tomography tomograms. Existing methods of 3-D display generate images based on the distance from an imaginary observation point to a patch on the surface and on the surface normal of the patch. We believe that the normalized gradient of the original values in the CT or MRI tomograms provides a better estimate for the surface normal and hence results in higher quality 3-D images. Then two algorithms that generate 3-D surface models are presented. The new methods use polygon and point primitives to interface with computer-aided design equipment. Finally, several 3-D images of both bony and soft tissue show the skull, spine, internal air cavities of the head and abdomen, and the abdominal aorta in detail.     

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion. We showed that the deletions occurred de novo in all patients for whom both parents' DNA was available (10/11). All patients presented with moderate to severe ID, seizures and non-specific craniofacial anomalies. By oligoarray-based comparative genomic hybridization (aCGH) covering the 1q44 region at a high resolution, we obtained a critical deleted region containing two coding genes-HNRNPU and FAM36A-and one non-coding gene-NCRNA00201. All three genes were expressed in different normal human tissues, including in human brain, with highest expression levels in the cerebellum. Mutational screening of the HNRNPU and FAM36A genes in 191 patients with unexplained isolated ID did not reveal any deleterious mutations while the NCRNA00201 non-coding gene was not analyzed. Nine of the 11 patients did not present with microcephaly or corpus callosum abnormalities and carried a small deletion containing HNRNPU, FAM36A, and NCRNA00201 but not AKT3 and ZNF238, two centromeric genes. These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures.     

计算机辅助三维CT重建椎动脉横突段的走行及解剖变异

背景：目前不同影像学方法对椎动脉的检查仍然存在差异和争论,计算机断层扫描血管造影技术的发展,为血管及骨关节结构的解剖观察及疾病诊断提供了新的手段。 目的：评价三维CT血管造影显示椎动脉横突段的效果,明确其走行及变异。 方法：从2009-12-01/2010-05-31头颈部联合CT血管造影检查的三维影像资料中,去除椎动脉不显影或显影不清楚的资料,选出无明显异常病变者250例,在三维图像上观察椎动脉在横突段的走行及血管管径的变异。获得原始断层图像后,通过容积重建、多层面重建、表面遮盖成像来显示椎动脉。 结果与结论：椎动脉经C6横突孔进入占所有样本的92.6%,经异常横突孔进入占所有样本的7.4%(37条),经C₄,C₅,C₇横突孔进入的发生率分别为2.2%(n=11,占不正常的29.7%),4.6%(n=23,占不正常的62.2%),0.6%(n=3,占不正常的8.1%)。20例为右侧异常(54.1%),17例为左侧异常(45.9%)。所有患者中27例为单侧异常(10.8%),5例为双侧异常(2%)。比较椎动脉管腔直径,左侧直径明显大于右侧53例,右侧直径明显大于左侧30例,左右侧差异具有显著性意义(P < 0.01)。提示椎动脉在横突段的解剖变异发生率较高,三维CT血管造影能客观地反映椎动脉的病理改变,并清晰显示椎动脉与骨性结构的关系。     

Size and shape changes during late fetal growth (137–157 gestational days) in the pigtailed macaque (Macaca nemestrina) craniofacial complex: An application using three‐dimensional coordinate data and finite element scaling analysis

Form changes within the fetal pigtailed macaque (Macaca nemestrina) craniofacial complex was documented using finite element scaling analysis (FESA) and three‐dimensional (3D) coordinate data for 35 craniofacial landmarks. Coordinate data were digitized from 3D reconstructions of computed tomography (CT) images and 2D axial slices. Twenty‐two fetal pigtailed macaques ranging in age from 137 to 157 gestational days were included (in this species, birth is estimated at 170 gestational days). The null hypothesis that the craniofacial complex grows with isometry during late fetal growth of the craniofacial complex was tested (P < 0.05), and the prediction that morphological change along an anteroposterior axis dominates late fetal growth was also investigated. The null hypothesis was rejected, indicating that allometric growth is present during late fetal growth. Growth along an anteroposterior axis is localized in the palate and mandible. The neurocranium grows along a superoinferior axis, while the neurofacial junction displays growth along both the anteroposterior and superoinferior axes. Mediolateral changes are localized between asterions, the external auditory meati, and maxillary and mandibular alveolar points. Finally, a 3D model of craniofacial growth for this species was created, localizing size and shape changes that occur during late fetal growth for each of the 35 craniofacial landmarks defined in this study. Anat Rec 267:307–320, 2002. © 2002 Wiley‐Liss, Inc.     

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development

Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of abnormalities, including conotruncal heart defects, velopharyngeal insufficiency, craniofacial anomalies and learning disabilities. In addition, numerous other clinical features have been described, including frequent psychiatric illness. Hemizygosity for a 1.5-3 Mb region of chromosome 22q11 has been detected in >80% of VCFS/DGS patients. It is thought that a developmental field defect is responsible for many of the abnormalities seen in these patients and that the defect occurs due to reduced levels of a gene product active in early embryonic development. Goosecoid-like ( GSCL ) is a homeobox gene which is present in the VCFS/DGS commonly deleted region. The mouse homolog, Gscl, is expressed in mouse embryos as early as E8.5. Gscl is related to Goosecoid ( Gsc ), a gene required for proper craniofacial development in mice. GSCL has been considered an excellent candidate for contributing to the developmental defects in VCFS/DGS patients. To investigate the role of Goosecoid-like in VCFS/DGS etiology, we disrupted the Gscl gene in mouse embryonic stem cells and produced mice that transmit the disrupted allele. Mice that are homozygous for the disrupted allele appear to be normal and they do not exhibit any of the anatomical abnormalities seen in VCFS/DGS patients. RNA in situ hybridization to mouse embryo sections revealed that Gscl is expressed at E8.5 in the rostral region of the foregut and at E11.5 and E12.5 in the developing brain, in the pons region and in the choroid plexus of the fourth ventricle. Although the gene inactivation experiments indicate that haploinsufficiency for GSCL is unlikely to be the sole cause of the developmental field defect thought to be responsible for many of the abnormalities in VCFS/DGS patients, its localized expression during development could suggest that hemizygosity for GSCL, in combination with hemizygosity for other genes in 22q11, contributes to some of the developmental defects as well as the behavioral anomalies seen in these patients. The mice generated in this study should help in evaluating these possibilities.      

Amniotic band sequence and its neurocutaneous manifestations

Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 and 6 had only limb defects. Craniofacial and neurologic manifestations of our longer-survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro- or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema. pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.     

脊柱侧凸三维有限元模型的建立及其意义

目的建立胸腰段脊柱侧凸的三维有限元模型。方法螺旋CT扫描脊柱侧凸患者T6椎体上缘至L1椎体下缘,所得图片经Photoshop处理后导入Simpleware软件,采用实体建模方法构建出每一椎体及椎间盘的实体模型,经过逆向工程软件Geomagic光滑、组装后导入有限元分析软件ABAQUS,进行网格划分建成脊柱侧凸的有限元模型。结果所建模型共划分了232315个单元,356830个节点,模型结构完整,单元划分精细,外观逼真,几何相似性好,能精确测量一定载荷下的应力和位移分布。结论本研究所建有限元模型有助于脊柱侧凸的生物力学研究,对于脊柱侧凸的治疗及个性化矫形支具的设计具有指导意义。     

Anatomic study of complex anomalies of the digastric muscle and review of the literature

The digastric muscles of 99 cadavers were examined bilaterally. In 5 of them, the digastric muscles showed different types of complex abnormalities. These complex anomalies should be kept in mind in functional studies involving the floor of mouth and evaluating the same structures with CT and MR imaging. Secondly, the embryological basis of the isolated anomalies of the anterior digastric muscle with respect to its occurrence together with the mylohyoid muscle stressed in this article needs further studies of their development from the first branchial arch.