Добірка наукової літератури з теми "Cranial vault remodelling"

The use of external orthoses following surgical cranial vault remodelling in infants with craniosynostosis was first described in the 1980s. While a few preliminary reports have been published on its use, there are no reports outlining specific orthotic considerations. The purpose of this paper is to present the orthotic community with an introduction to the various craniosynostoses, the resultant cranial morphologies, and specific orthotic considerations associated with these morphologies, including trigocephaly, frontal plagiocephly, brachycephaly, scapholocephaly, and occipital plagiocephaly. For each presentation, guidelines are presented as to where the cranial remoulding orthosis should maintain contact, thereby discouraging cranial growth, and where the voids should be established and maintained to allow for corrective cranial growth. Principles are supported by photographs of representative cases.

Object The objective of this study was to evaluate and analyze morphometric and volumetric changes of the skull due to acromegaly in areas relevant for neurosurgical practice, focusing on the surgical implications. Methods On preoperatively acquired CT scans, cephalometric and volumetric measurements were performed on 45 patients with acromegaly (Group A) and 45 control patients (Group B). The authors determined thickness of the cranial vault, inner and outer diameters of the skull, and the diameter of sphenoidal and maxillary sinus, as well as frontal and maxillary sinus volumetry. The morphometric and volumetric CT data of the patients with acromegaly were compared with the data of a control group and correlated with clinical parameters. Results Cranial vault thickness differed significantly (p < 0.0001) between the 2 groups. A correlation of the vault thickness with preoperative human growth hormone, insulin-like growth factor–I levels, and duration of clinical history in acromegaly could not be established. The outer anterior-posterior skull diameter of Group A (18.47 ± 0.94 cm) differed significantly (p = 0.0146) from Group B (17.98 ± 0.93 cm) and correlated significantly with preoperative human growth hormone (r = 0.3277; p = 0.0299) and insulin-like growth factor-–I serum levels (r = 0.3756; p = 0.0120). Measurements of the anterior-posterior diameter of the sphenoidal sinus differed significantly (p = 0.0074) between patients with acromegaly and controls. Volumetric analysis of the frontal sinus resulted in a statistically significant difference (p = 0.0382) between patients with acromegaly (14.89 ± 10.85 cm3) and controls (10.06 ± 6.93 cm3). Conclusions Significant craniometric changes and volumetric remodelling of the paranasal sinus occur in acromegaly. The bone alterations are of surgical importance for using the transsphenoidal approach. Detailed preoperative diagnostic examination and planning as well as selection of appropriate instruments are mandatory for safe and successful pituitary adenoma removal in patients with acromegaly.

Abstract Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleosome remodelling and deacetylation complex (NuRD) and polycomb-related complex 2 (PRC2) through the invariant proteins RBBP4 and RBBP7. The p.R3S substitution occurs within a conserved amino-terminal motif (RRKQxxP) of BCL11B and reduces interaction with both transcriptional complexes. Equilibrium binding studies and molecular dynamics simulations show that the p.R3S substitution disrupts ionic coordination between BCL11B and the RBBP4–MTA1 complex, a subassembly of the NuRD complex, and increases the conformational flexibility of Arg-4, Lys-5 and Gln-6 of BCL11B. These alterations collectively reduce the affinity of BCL11B p.R3S for the RBBP4–MTA1 complex by nearly an order of magnitude. We generated a mouse model of the BCL11B p.R3S substitution using a CRISPR-Cas9-based approach, and we report herein that these mice exhibit craniosynostosis of the coronal suture, as well as other cranial sutures. This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency.

Background: Premature fusion of cranial sutures affects skull development. Intracranial pressure increase and brain growth restriction can occur in untreated craniosynostosis. Operative treatment aims to restore skull function and aesthetics. This study was designed to evaluate the effect of a total calvarial reconstruction on skull development in patients with nonsyndromic sagittal synostosis. Material and Methods: The study population included 19 male and 5 female patients with isolated nonsyndromic sagittal suture synostosis. Preoperative and postoperative intracranial volumes were measured on CT data sets as criteria for the intended volume increase after surgery and in the follow-up. Cephalic indices were extracted from CT data to evaluate the length and width relation as aesthetic criteria. Results: The male population presented with a preoperative mean ICV of 863.3 cm³. A postoperative mean ICV increase of 243.5 cm³ (p < 0.001) and a further ICV enlargement (p < 0.001) was measured. The mean CI changed from 71.0 % preoperatively to 75.4 % postoperatively (p = 0.002) and decreased insignificantly in the follow-up (p = 0.546). The female population had a preoperative mean ICV of 804.9 cm³. Postoperatively, the mean ICV increased by 211.1 cm³ (p = 0.043) and also increased in the follow-up (p = 0.043). Their mean CI values increased from 66.5 % preoperatively to 72.8 % (p = 0.043) postoperatively and decreased insignificantly in the follow-up (p = 0.345). Conclusion: This method of total vault remodelling provides reliable intracranial volume increase and improvement in length and width skull proportions beyond the immediate postoperative period.

Abstract Purpose Children affected by premature fusion of the cranial sutures due to craniosynostosis can present with raised intracranial pressure and (turri)brachycephalic head shapes that require surgical treatment. Spring-assisted posterior vault expansion (SA-PVE) is the surgical technique of choice at Great Ormond Street Hospital for Children (GOSH), London, UK. This study aims to report the SA-PVE clinical experience of GOSH to date. Methods A retrospective review was carried out including all SA-PVE cases performed at GOSH between 2008 and 2020. Demographic and clinical data were recorded including genetic diagnosis, craniofacial surgical history, surgical indication and assessment, age at time of surgery (spring insertion and removal), operative time, in-patient stay, blood transfusion requirements, additional/secondary (cranio)facial procedures, and complications. Results Between 2008 and 2020, 200 SA-PVEs were undertaken in 184 patients (61% male). The study population consisted of patients affected by syndromic (65%) and non-syndromic disorders. Concerns regarding raised intracranial pressure were the surgical driver in 75% of the cases, with the remainder operated for shape correction. Median age for SA-PVE was 19 months (range, 2–131). Average operative time for first SA-PVE was 150 min and 87 for spring removal. Median in-patient stay was 3 nights, and 88 patients received a mean of 204.4 ml of blood transfusion at time of spring insertion. A single SA-PVE sufficed in 156 patients (85%) to date (26 springs still in situ at time of this analysis); 16 patients underwent repeat SA-PVE, whilst 12 underwent rigid redo. A second SA-PVE was needed in significantly more cases when the first SA-PVE was performed before age 1 year. Complications occurred in 26 patients with a total of 32 events, including one death. Forty-one patients underwent fronto-orbital remodelling at spring removal and 22 required additional cranio(maxillo)facial procedures. Conclusions Spring-assisted posterior vault expansion is a safe, efficient, and effective procedure based on our 12-year experience. Those that are treated early in life might require a repeat SA-PVE. Long-term follow-up is recommended as some would require additional craniomaxillofacial correction later in life.

BACKGROUND Craniosynostosis is a congenital condition characterised by the premature closure of one or more cranial sutures. The sagittal suture is the most common site, comprising 40-60% of cases. Premature fusion of this suture can cause scaphocephaly, seen morphologically as a narrow elongated skull with a decreased cephalic index. Diagnosis is made clinically and/or radiologically. The goals of surgical correction and the techniques used have evolved over time. Whilst there has been a general move from limited craniectomy to calvarial remodelling, in recent times there has been a return towards less invasive methods. OBJECTIVES The objectives were to identify and synthesize the best available evidence on the morphological, functional and neurological outcomes of craniectomy compared to cranial vault remodelling and compare this to existing results. METHODS A systematic review of the literature was conducted using the Joanna Briggs Institute methodology. The review considered studies of infants with primary isolated sagittal synostosis operated on before a mean of two years of age. The intervention of interest was sagittal craniectomy; this was compared to cranial vault remodelling. Morphological, functional and neurological outcomes were included. Mortality, complications and aesthetic outcome were included as tertiary outcomes. A comprehensive search was undertaken across major databases. Retrieved studies were assessed by two independent reviewers for methodological validity. Data was extracted and where possible, pooled in statistical meta-analysis. Where this was not possible, findings were presented in narrative form. RESULTS Based on critical appraisal 27 studies, all descriptive in nature, were of suitable quality for inclusion. Meta-analysis was only possible for the primary morphological outcome (mean change in cephalic index post-operatively) based on two studies. This showed that at one year post-operative follow-up remodelling offers an advantage over craniectomy (Z = 4.16, P<0.0001). Narrative synthesis suggests that improvements of cephalic index to varying degrees were seen in patients receiving either procedure; whilst the mean change appears to peak early in patients who have undergone remodelling procedures, the trend suggests it may improve in the longer term after craniectomy. Whilst global IQ scores may be comparable to an age-matched population, narrative review suggests that patients with sagittal synostosis who have undergone a surgical correction of any type may have discrepancies in specific domains and may be at risk of developing learning disorders. There is insufficient primary research with inter-procedure comparison of pre-operative and post-operative cognitive or neurological outcome. CONCLUSIONS At one year follow-up, remodelling is superior to craniectomy in terms of mean change in cephalic index. However both procedures were seen to give improvements in the short, medium and long term. Neither procedure offers a distinct sustained advantage; longer follow-up is required to assess the comparative improvement over time. There is insufficient evidence whether craniectomy or remodelling procedures offer superior functional or neurological outcome. Patients who have had surgical repair (any type) may have deficiencies in different subdomains and be at risk of learning disorders, whilst maintaining an age-appropriate global IQ and school performance. It is unknown if either surgery impart any restorative or protective benefit.
Thesis (M.Clin.Sc.) -- University of Adelaide, School of Translational Health Science, 2015