Craniosynostoses

颅骨融合
  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    在ACPA(美国腭裂-颅面协会)批准的中心接受治疗对农村社区的个人来说是具有挑战性的。这项研究旨在评估密西西比州的儿科整形外科外展诊所如何影响口面裂和颅骨融合症患者的就诊。等时线图用于确定从密西西比州县到唯一的儿科医院和该州唯一的ACPA批准团队的平均旅行时间。这项分析是在建立两个外展诊所之前和之后进行的,以评估旅行时间和旅行费用的差异专业整形外科护理。使用两个样本t检验进行分析。北密西西比州和南密西西比州的外展诊所的增加导致该州各县的裂痕和颅面诊断患者的平均旅行时间显着减少(1.81小时vs1.46小时,P<0.001)。在引入外展诊所后,在考虑大流行天然气价格(15.27美元对9.80美元,P<0.001)和大流行后价格(36.52美元对23.43美元,P<0.001)时,观察到值得注意的旅行费用节省。密西西比州的外展诊所的增加扩大了对患有left裂和颅面差异的患者的专业医疗保健的访问,从而减少了这些患者的旅行时间并节省了成本。在美国其他农村州建立专业外展诊所可能会大大有助于减轻裂痕和颅面差异患者的护理负担。未来的研究可以进一步调查外展诊所的纳入是否可以改善这些患者的随访率和手术结果。
    UNASSIGNED: Accessing treatment at ACPA (American Cleft Palate-Craniofacial Association)-approved centers is challenging for individuals in rural communities. This study aims to assess how pediatric plastic surgery outreach clinics impact access for patients with orofacial cleft and craniosynostosis in Mississippi. An isochrone map was used to determine mean travel times from Mississippi counties to the sole pediatric hospital and the only ACPA-approved team in the state. This analysis was done before and after the establishment of two outreach clinics to assess differences in travel times and cost of travel to specialized plastic surgery care. Two sample t-tests were used for analysis.The addition of outreach clinics in North and South Mississippi led to a significant reduction in mean travel times for patients with cleft and craniofacial diagnoses across the state\'s counties (1.81 hours vs 1.46 hours, P < 0.001). Noteworthy travel cost savings were observed after the introduction of outreach clinics when considering both the pandemic gas prices ($15.27 vs $9.80, P < 0.001) and post-pandemic prices ($36.52 vs $23.43, P < 0.001).The addition of outreach clinics in Mississippi has expanded access to specialized healthcare for patients with cleft and craniofacial differences resulting in reduced travel time and cost savings for these patients. Establishing specialty outreach clinics in other rural states across the United States may contribute significantly to reducing burden of care for patients with clefts and craniofacial differences. Future studies can further investigate whether the inclusion of outreach clinics improves follow-up rates and surgical outcomes for these patients.
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  • 文章类型: Case Reports
    颅骨融合综合征是出生缺陷,其特征是在完成大脑生长和发育之前,一个或多个颅骨缝线过早融合。克鲁松综合征(CS)是最常见的颅骨融合疾病。CS表现是上颌骨沿眶壁的上、后缝线早期融合所致,并影响颅穹窿,基地,轨道,和上颌区域。本报告介绍了一例25岁男性CS患者的罕见病例,该患者被转诊为正畸治疗,主要主诉是牙齿排列严重不规则和面部外观异常。在这份报告中,临床,头影特征,并讨论了该患者的初始正畸治疗,作为多学科治疗的一部分。
    Craniosynostosis syndromes are birth defects characterized by the premature fusion of one or more cranial sutures before the completion of brain growth and development. Crouzon syndrome (CS) is the most common craniosynostosis condition. The CS manifestations result from the early fusion of superior and posterior sutures of the maxilla along the orbital wall and affect the cranial vault, base, orbital, and maxillary regions. This report presents a rare case of a 25-year-old male CS patient referred for orthodontic treatment with the chief complaint of severe irregularities in the arrangement of teeth and abnormal facial appearance. In this report, the clinical, cephalometric features, and initial orthodontic management of this patient are discussed as part of multidisciplinary management.
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  • 文章类型: Journal Article
    背景:患者通常在颅内手术后监测低钠血症,然而,颅部重建(CVR)后低钠血症的发生率尚不清楚.这项研究的目的是定义患病率,危险因素,CVR后低钠血症的并发症,以优化术后钠监测方案。
    方法:非综合征患者,纳入2009年至2020年在密歇根医学院接受原发性CVR的单缝线颅骨融合(n=231).人口统计,术中,与术后特点比较,术后低钠血症状态P<0.05有显著性意义。低钠血症定义为轻度(<135mEq/L),中等(<130mEq/L),或严重(<125mEq/L),基于最低的术后实验室抽取。
    结果:23例患者(10.0%)术后出现轻度低钠血症。术后无患者出现中度或重度低钠血症。在多元回归中,术前钠水平降低(P=0.03)和术前体重降低(P=0.02)与轻度术后低钠血症显著相关.没有患者因低钠血症而出现并发症或需要再次住院。
    结论:这项针对非综合征性单缝颅骨融合症患者的大型回顾性队列研究表明,轻度,临床上无关紧要的低钠血症和0%的中度或重度患病率,原发性CVR后临床显着低钠血症。术前钠水平或体重较低的患者发生轻度低钠血症的风险增加。结果表明,术前钠大于140mEq/L或体重大于10kg的患者可能是术后钠监测有限的候选人;然而,未来的前瞻性研究在实施之前是有必要的.
    方法:风险,III.
    BACKGROUND: Patients are commonly monitored for hyponatremia after intracranial procedures, yet the prevalence of hyponatremia after cranial vault reconstruction (CVR) remains unclear. The purpose of this study is to define the prevalence, risk factors, and complications of hyponatremia after CVR to optimize postoperative sodium surveillance protocols.
    METHODS: Patients with nonsyndromic, single-suture craniosynostosis who underwent primary CVR between 2009 and 2020 at Michigan Medicine were included (n = 231). Demographic, intraoperative, and postoperative characteristics were compared by postoperative hyponatremia status at P < 0.05 significance. Hyponatremia was defined as mild (<135 mEq/L), moderate (<130 mEq/L), or severe (<125 mEq/L) based on the lowest postoperative laboratory draw.
    RESULTS: Twenty-three patients (10.0%) developed mild postoperative hyponatremia. No patient developed moderate or severe postoperative hyponatremia. On multivariable regression, decreased preoperative sodium level (P = 0.03) and decreased preoperative weight (P = 0.02) were significantly associated with mild postoperative hyponatremia. No patient developed complications or required hospital readmission because of hyponatremia.
    CONCLUSIONS: This large retrospective cohort study of patients with nonsyndromic single-suture craniosynostosis demonstrated a 10% prevalence of mild, clinically inconsequential hyponatremia and 0% prevalence of moderate or severe, clinically significant hyponatremia after primary CVR. Patients with low preoperative sodium level or weight were at increased risk for developing mild postoperative hyponatremia. The results suggest that patients with preoperative sodium greater than 140 mEq/L or preoperative weight greater than 10 kg may be candidates for limited postoperative sodium surveillance; however, future prospective studies are warranted before implementation.
    METHODS: Risk, III.
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  • 文章类型: Journal Article
    背景:内镜下带状颅骨切除术后再进行头盔治疗(ESCH)是一种用于矫正矢状位颅骨融合的微创方法。治疗涉及患者特异性头盔,旨在促进横向生长,同时限制矢状扩张。在这项研究中,有限元模型用于预测治疗后的头部重塑,提高我们对必要的头盔治疗持续时间的理解。
    方法:在康涅狄格州儿童医院接受ESCH治疗的6名患者(年龄11周至9个月)被纳入本研究。术后第一天3D扫描用于创建皮肤,头骨,和颅内容量模型。针对患者的头盔模型,纳入增长领域,是基于术后影像学设计的。通过热膨胀模拟大脑生长,根据现有的术后影像学对治疗进行建模。机械测试和有限元建模相结合,以确定从手术收集的骨骼样本中患者特定的机械性能。验证在形状匹配和颅骨指数估计方面将模拟的治疗结束皮肤表面与光学扫描进行了比较。
    结果:模拟的后处理头部形状和光学扫描之间的比较表明,平均97.3±2.1%的表面数据点在-3至3mm的距离范围内。颅骨指数也被准确预测(r=0.91)。
    结论:结论:有限元模型可有效预测术后8个月ESCH颅骨重塑结果。这个计算工具提供了有价值的见解,以指导和完善头盔治疗的持续时间。这项研究还纳入了患者特定的材料特性,提高建模方法的准确性。
    BACKGROUND: Endoscopic strip craniectomy followed by helmet therapy (ESCH) is a minimally invasive approach for correcting sagittal craniosynostosis. The treatment involves a patient-specific helmet designed to facilitate lateral growth while constraining sagittal expansion. In this study, finite element modelling was used to predict post-treatment head reshaping, improving our comprehension of the necessary helmet therapy duration.
    METHODS: Six patients (aged 11 weeks to 9 months) who underwent ESCH at Connecticut Children\'s Hospital were enrolled in this study. Day-1 post-operative 3D scans were used to create skin, skull, and intracranial volume models. Patient-specific helmet models, incorporating areas for growth, were designed based on post-operative imaging. Brain growth was simulated through thermal expansion, and treatments were modelled according to post-operative Imaging available. Mechanical testing and finite element modelling were combined to determine patient-specific mechanical properties from bone samples collected from surgery. Validation compared simulated end-of-treatment skin surfaces with optical scans in terms of shape matching and cranial index estimation.
    RESULTS: Comparison between the simulated post-treatment head shape and optical scans showed that on average 97.3 ± 2.1 % of surface data points were within a distance range of -3 to 3 mm. The cranial index was also accurately predicted (r = 0.91).
    CONCLUSIONS: In conclusion, finite element models effectively predicted the ESCH cranial remodeling outcomes up to 8 months postoperatively. This computational tool offers valuable insights to guide and refine helmet treatment duration. This study also incorporated patient-specific material properties, enhancing the accuracy of the modeling approach.
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  • 文章类型: Case Reports
    目的:我们介绍了Pfeiffer综合征和杂合子c.1019A>G胎儿的围产期影像学发现,FGFR2中的p.Tyr340Cys(Y340C)突变呈现三叶草头骨,产前超声模拟II型(TD2)的颅骨融合和短肢。
    方法:37岁,gravida2,para1,女性在妊娠17周时接受了羊膜穿刺术,因为母亲年龄高。羊膜穿刺术显示核型为46,XY。然而,在妊娠21周时,产前超声发现颅面异常,显示三叶草头骨,严重的颅骨融合和相对较短的直骨。妊娠22周时的胎儿磁共振成像(MRI)分析显示苜蓿叶头骨,裂隙的突出和相对变浅。妊娠24周时的产前超声检查显示胎儿的三叶草头盖骨双顶直径(BPD)为6.16厘米(相当于24周),腹围(AC)为18.89cm(相当于24周),股骨长度(FL)为3.65cm(相当于21周)。对TD2进行了初步诊断。随后终止了妊娠,一名928克畸形胎儿因严重颅骨融合而分娩,突增,中表面收缩,苜蓿叶头骨,宽阔的拇指和宽阔的大脚趾。宽大的拇指向里偏离。全身X光显示三叶草头骨和直长骨。然而,胎儿FGFR3的分子分析显示靶区域无突变.随后对从脐带中提取的DNA进行全外显子组测序(WES)显示杂合c.1019A>G,FGFR2基因中的p.Tyr340Cys(Y340C)突变。
    结论:在FGFR2中具有Y340C突变的胎儿在产前超声检查中可能呈现三叶草头骨,在这种情况下,WES可用于Pfeiffer综合征与TD2的快速鉴别诊断。
    OBJECTIVE: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2).
    METHODS: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. However, craniofacial anomaly was found on prenatal ultrasound at 21 weeks of gestation, which showed a cloverleaf skull with severe craniosynostosis and relatively short straight long bones. Fetal magnetic resonance imaging (MRI) analysis at 22 weeks of gestation showed a cloverleaf skull, proptosis and relatively shallowing of the sylvian fissures. Prenatal ultrasound at 24 weeks of gestation showed a fetus with a cloverleaf skull with a biparietal diameter (BPD) of 6.16 cm (equivalent to 24 weeks), an abdominal circumference (AC) of 18.89 cm (equivalent to 24 weeks) and a femur length (FL) of 3.65 cm (equivalent to 21 weeks). A tentative diagnosis of TD2 was made. The pregnancy was subsequently terminated, and a 928-g malformed fetus was delivered with severe craniosynostosis, proptosis, midface retrusion, a cloverleaf skull, broad thumbs and broad big toes. The broad thumbs were medially deviated. Whole body X-ray showed a cloverleaf skull and straight long bones. However, molecular analysis of FGFR3 on the fetus revealed no mutation in the target regions. Subsequent whole exome sequencing (WES) on the DNA extracted from umbilical cord revealed a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in the FGFR2 gene.
    CONCLUSIONS: Fetuses with a Y340C mutation in FGFR2 may present a cloverleaf skull on prenatal ultrasound, and WES is useful for a rapid differential diagnosis of Pfeiffer syndrome from TD2 under such a circumstance.
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  • 文章类型: Systematic Review
    目前尚不清楚,在多大程度上,颅骨融合影响注意力缺陷/多动障碍(ADHD)的发展。此PRISMA兼容和PROSPERO预注册(ID:CRD42023458640)系统评价和荟萃分析检查了单缝线的关联,伴有ADHD和注意力不集中/多动症状的非综合征性颅骨融合。分析了来自17项独立研究(Nparticipators=2,389;Mage=7.3年)的数据,考虑到缝合位置,手术状态,年龄,和管理的措施,在可行的地方。病例和对照之间几乎没有差异,但是一些研究报告称症状水平很高。需要使用更大的样本量和更全面的ADHD评估进行其他研究。
    It is not yet understood whether, and to what extent, craniosynostosis impacts the development of Attention Deficit/Hyperactivity Disorder (ADHD). This PRISMA compliant and PROSPERO pre-registered (ID: CRD42023458640) systematic review and meta-analysis examines the association of single-suture, non-syndromic craniosynostosis with ADHD and inattention/hyperactivity symptoms. Data from 17 independent studies (Nparticipants = 2,389; Mage = 7.3 years) were analyzed, taking into consideration suture location, surgical status, age, and measures administered, where feasible. Few differences were found between cases and controls, but some studies reported high symptom levels. Additional research is required utilizing larger sample sizes and more comprehensive assessment of ADHD.
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  • 文章类型: Journal Article
    背景:由于异位缝合线的过早融合而发生三头畸形,导致三角形的前额和下等。这种情况通常需要针对形态和功能适应症进行手术矫正。异位脊也起源于过早的异位闭合,但仅与中额叶隆起有关;很少需要手术矫正。这两种情况之间的鉴别诊断可能具有挑战性,尤其是在小三角头。
    方法:对三头畸形患者进行了27次扫描(90),变位rigdes(27),和对照组(90)被收集。几何形态计量学用于量化颅骨和眼眶形态以及额间角和头部指数。开发了一种创新的方法来自动计算沿着异位缝合线的正面曲率。测试了不同的机器学习算法,以评估形态数据在分类方面的预测能力。
    结果:我们显示对照组患者,三角头颅和异位脊具有独特的头骨和眼眶形状。3D额叶曲率能够在组间进行清晰的区分(灵敏度和特异性>92%)。此外,当组合6项单变量测量时,我们在组辨别中的准确率达到100%.
    结论:提出了两种诊断工具,并证明其在帮助患有三角头脊或异位脊的患者的鉴别诊断方面是成功的。需要进一步的临床评估来验证这些工具的实际临床相关性。
    BACKGROUND: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly.
    METHODS: Two hundred seven scans of patients with trigonocephaly (90), metopic rigdes (27), and controls (90) were collected. Geometric morphometrics were used to quantify skull and orbital morphology as well as the interfrontal angle and the cephalic index. An innovative method was developed to automatically compute the frontal curvature along the metopic suture. Different machine-learning algorithms were tested to assess the predictive power of morphological data in terms of classification.
    RESULTS: We showed that control patients, trigonocephaly and metopic rigdes have distinctive skull and orbital shapes. The 3D frontal curvature enabled a clear discrimination between groups (sensitivity and specificity > 92%). Furthermore, we reached an accuracy of 100% in group discrimination when combining 6 univariate measures.
    CONCLUSIONS: Two diagnostic tools were proposed and demonstrated to be successful in assisting differential diagnosis for patients with trigonocephaly or metopic ridges. Further clinical assessments are required to validate the practical clinical relevance of these tools.
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  • 文章类型: Journal Article
    背景:颅骨融合症,颅面发育异常,由于一个或多个颅骨缝合线的过早闭合,会损害大脑发育并导致颅骨形状异常。传统的手术治疗已经从开放手术发展到微创内窥镜技术。本系统评价和荟萃分析旨在评估内窥镜方法在颅骨融合矫正中的有效性和安全性。
    方法:坚持CochraneGroup标准和PRISMA框架,这篇评论利用了像PubMed这样的数据库,Embase,和WebofScience,重点关注截至2023年12月的内窥镜颅骨融合手术的临床和手术结果。纳入标准强调至少5例患者接受内镜手术的研究,虽然排除标准涉及非英语论文,不完整的文本,和重叠的数据。统计分析使用R软件和各种软件包,方法偏差使用ROBINS-I框架进行评估。
    结果:该综述包括30项研究(4项前瞻性,26例回顾性)与2561例患者。手术年龄中位数为3.20个月。结果显示平均手术时间为68.06分钟,中位住院时间为1.28天,平均失血量为29.89ml。9.97%的病例需要输血。手术后头盔治疗很常见,中位持续时间为9个月。术后并发症发生率为1.86%,再次手术率为3.07%。没有观察到手术相关的死亡率。该研究指出,颅骨融合的处理存在很大差异,并且在最佳时机和手术方法上缺乏共识。
    结论:用于颅骨融合修复的内窥镜技术证明了安全性和有效性,其特点是并发症风险低,手术效果良好。然而,由于观察性研究的局限性和固有的异质性,需要进一步的综合和对照试验来验证这些发现,并了解内镜方法的长期结局.
    Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial sutures. Traditional surgical treatments have evolved from open operations to minimally invasive endoscopic techniques. This systematic review and meta-analysis aim to evaluate the effectiveness and safety of the endoscopic approach in craniosynostosis correction.
    Adhering to Cochrane Group standards and the PRISMA framework, this review utilized databases like PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes of endoscopic craniosynostosis operations up to December 2023. Inclusion criteria emphasized studies with at least five patients undergoing endoscopic procedures, while exclusion criteria involved non-English papers, incomplete texts, and overlapping data. Statistical analysis used R software with various packages, and methodological bias was assessed using the ROBINS-I framework.
    The review included 30 studies (4 prospective, 26 retrospective) with 2561 patients. The median age at operation was 3.20 months. Findings showed a mean operative time of 68.06 min, median hospital stay of 1.28 days, and mean blood loss of 29.89 ml. Blood transfusion was required in 9.97% of cases. Helmet therapy post-operation was common, with a median duration of 9 months. The rate of postoperative complications was 1.86%, and the reoperation rate was 3.07%. No procedure-related mortality was observed. The study noted substantial variations in the handling of craniosynostosis and a lack of consensus on the optimal timing and surgical approach.
    Endoscopic techniques for craniosynostosis repair demonstrate safety and effectiveness, characterized by low complication risks and favorable surgical outcomes. However, due to the limitations of observational studies and inherent heterogeneity, further comprehensive and controlled trials are needed to validate these findings and understand the long-term outcomes of the endoscopic approach.
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  • 文章类型: Journal Article
    短头犬种,其中大多数显示短脑综合征的迹象可能比其他品种有更大的副交感神经刺激,导致更高的心率变异性和迷走神经张力指数。这项研究的目的是建立计算机心电图研究,并通过与头颅犬相比的五个短头犬的心率变异性和迷走神经张力指数来评估迷走神经交感神经平衡。使用了60只狗,分成由拳击手组成的小组,英国斗牛犬,法国斗牛犬,哈巴狗,Shih-Tzu和没有定义的品种中头犬。使用Shapiro-Wilk检验进行统计分析,Kruskal-Wallis和Dunn's检验或ANOVA和Bonferroni(p<0.05)。在评估所有狗的迷走神经交感神经平衡时,心率与HRV10RR呈负相关(r=-0.7678;p<0.0001),HRV20RR(r=-0.8548,p<0.0001)和VVTI(r=-0.2770;p=0.0321)。因此,可以得出结论,狗的品种和形态没有改变其心电图参数或心率变异性。迷走神经张力指数,在其他研究中,短头犬不同,在短脑品种中单独比较时没有差异。
    Brachycephalic breeds of dogs, most of which show signs of the brachycephalic syndrome may have greater parasympathetic stimulation than other breeds, leading to higher values of heart rate variability and vagal tone index. The aim of this study was to establish a computerized electrocardiographic study and an assessment of the vagus sympathetic balance through heart rate variability and vagal tone index of five brachycephalic breeds compared to mesocephalic dogs. Sixty dogs were used, divided into groups made up of Boxers, English Bulldogs, French Bulldogs, Pugs, Shih-Tzu and no defined breed mesocephalic dogs. Statistical analysis was carried out using the Shapiro-Wilk test, Kruskal-Wallis and Dunn\'s test or ANOVA and Bonferroni (p<0.05). In the evaluation of vagal sympathetic balance among all the dogs, there was a negative correlation between heart rate and HRV 10RR (r = - 0.7678; p < 0.0001), HRV 20RR (r = - 0.8548, p < 0.0001) and VVTI (r = - 0.2770; p = 0.0321). It can therefore be concluded that the dog\'s breed and morphology did not alter its electrocardiographic parameters or heart rate variability. The vagal tone index, which in other studies differed in brachycephalic dogs, showed no difference when compared separately in brachycephalic breeds.
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