Skull Deformity Research Articles

Hyper‐IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters

<scp>Hyper‐IgE</scp> syndrome presenting with early life craniosynostosis in monozygotic twin sisters

Advanced injectable hydrogels for bone tissue regeneration.

Diseases or defects of the skeleton are hazardous because of their specificity and intricacy. Bone tissue engineering has become an important area of research that offers promising new tools for making biomimetic hydrogels that can be used to treat bone diseases. New hydrogels with a distinctive 3D network structure, high water content, and functional capabilities are ranked among the most promising candidates for bone tissue engineering. This makes them helpful in treating cartilage injury, skull deformity, and arthritis. This review will briefly introduce the variety of biocompatible functional hydrogels used in cell culture and bone tissue regeneration. Many gel design concepts, such as crosslinking procedures, controlled release properties, and alternative bionic methodology, were stressed regarding injectable hydrogels to form bone tissue. Hydrogels manufactured from biocompatible materials are a promising option for minimally invasive surgery because of their adaptable physicochemical qualities, ability to fill irregularly shaped defect sites, and ability to grow hormones or release drugs in response to external stimuli. Also included in this overview is a quick rundown of the more practical designs employed in treating bone disorders. Essential details on injectable hydrogel scaffolds for bone tissue regeneration are described in this article.

332 Estimation of Intracranial Pressure Using Non-Invasive Monitor and Machine Learning

INTRODUCTION: Several non-invasive technologies have attempted to utilize surrogate markers of cerebral hemodynamics to infer intracranial pressure (ICP). Successful clinical application of these methods have been limited by hesitancy to rely upon surrogate data and inferences about ICP, in lieu of directly measured ICP. One newer method utilizes a mechanical extensometer to detect subtle, dynamic skull deformations can yield a non-invasive ICP waveform. This data has been validated to provide important information about intracranial dynamics, including inferences on the cerebral compliance. This method does not provide an absolute intracranial pressure and thus questions about clinical application remain. METHODS: High frequency (326 Hz) arterial blood pressure, non-invasive and invasive ICP measurements were collected from 5 patients. Samples were collected over 30 minutes. The first 15 minutes were used for training and last 15 minutes were used for testing. Facebook Prophet was used to perform signal analysis and forecasting. Switch-point analysis tools were also used to identify shifts in ICP measurements. RESULTS: Model per patient was generated from the 5 patients. Trend and seasonality analysis were then performed using Facebook Prophet modeling. Arterial blood pressure and non-invasive measurement were used as regressor to invasive intracranial pressure measurement. Mean absolute error of the testing samples of all models ranged from 0.8–2.4 mmHg. CONCLUSIONS: More closely and reliably estimating invasive intracranial pressure measurement from non-invasive measurements and arterial blood pressure is feasible using sequence analysis and machine learning. This will aid the clinical applicability of non-invasive monitoring and perhaps provide the pathway to replacing invasive measurement altogether. Further study of the applications of this clinical tool is warranted with the goal of intervening early to improve neurologic outcomes following acute brain injuries.

Medical Malpractice Litigations Involving Infant Craniosynostosis and Deformational Plagiocephaly in the United States.

To identify characteristics of malpractice litigations involving skull deformity in infants (craniosynostosis and deformational plagiocephaly). Retrospective review of all lawsuits with jury verdicts or settlements involving infant skull deformity as the primary diagnosis using the Westlaw Legal Database. United States. Plaintiffs with skull deformity as the primary diagnosis. Litigation outcome and indemnity payment amount. From 1990 to 2019, 9 cases involving infant skull deformity met our inclusion/exclusion criteria. Among these cases, 8 (88.9%) cases resulted in indemnity payments to plaintiffs, totaling $30,430,000. Failure to diagnose (n = 4, 44.4%) and surgical negligence (n = 3, 33.3%) were the most common reasons for litigations. There were a small number of malpractice lawsuits involving infant skull deformity over three decades. When cases go to court, physicians and hospitals have a high likelihood of judgment against them, frequently resulting in high indemnity payments.

Bone increment: A novel technique in correction of fronto-orbital deformity in patients with craniosynostosis

Background and objectiveCraniosynostosis is the premature closure of one or more of the cranial sutures, which leads to skull deformities and other complications. Non-syndromic craniosynostosis (NSCS) usually involves only one cranial suture. Unicoronal (UCS) and metopic craniosynostosis (MS) are two common types of NSCS. Correction of fronto-orbital deformity is the main aim of surgical intervention in patients of UCS and MS. In this article, we express our novel technique of bone increment to use a bone graft for reshaping of the orbital rim deformity in patients diagnosed with UCS and MS. Methods20 patients (10 UCS and 10 MS) were treated surgically at our institute, between 2020 and 2022. The degree of the needed fronto-orbital advancement was determined preoperatively using full history, preoperative examination, three-dimensional (3D) computed tomography (CT) and longitudinal orbital projection. ResultsThe mean hospital stay, operative time, anesthetic duration, intraoperative blood loss and transfusion showed significantly lower results than the literature. ConclusionThe bone increment technique for fronto-orbital reshaping of patients diagnosed with UCS and MS, is an innovative and efficient reconstructive technique and may provide a valuable and alternative technique and addition in selected cases in craniofacial surgery.

Frontal sinus carcinoma in forty-one dogs (2001-2022).

Reports on canine frontal sinus carcinomas (FSCs) are scarce. This retrospective review of 41 dogs with FSC (2001-2022) describes demographic and clinical characteristics of canine FSC and reports the clinical experience and overall survival following treatment with toceranib phosphate (TOC) and meloxicam in 10 cases. Median age at diagnosis was 10.6 years (range: 6.5-15.4 years). There was a male-to-female-ratio of 2.4:1. The most common breeds were Jack Russell Terriers (JRT) (n=7; 17.1%) and Rottweilers (n=3, 7.3%). Mesocephalic breeds (70.6%) were most commonly affected, brachycephalics accounted for 8.8%. The most frequent clinical signs included skull deformation dorsomedial to the eye (87.5%), pain/head-shyness (40.0%), ocular (22.5%)/nasal (17.5%) discharge, and exophthalmos (17.5%). Duration of symptoms prior to diagnosis varied from a few days to 9months. There were no neurological signs at initial presentation despite imaging evidence of osteolysis of the lamina interna of the frontal bone in most dogs (69.4%). In 11.5%, pulmonary changes suggestive of metastasis or concurrent primary pulmonary neoplasia were present. Tumour types included squamous cell carcinoma (58.5%), unspecified carcinoma (29.3%), and adenocarcinoma (9.8%). Ten dogs were treated with TOC (median 2.8mg/kg EOD or three times per week) and meloxicam (0.1mg/kg, EOD) (TOC-M), resulting in subjective regression of skull deformity in 8/10 (80.0%) patients. Overall median survival time with TOC-M was 183.5 days (range: 120-434 days). FSCs typically present with skull deformation, but no overt neurological signs. Male dogs and JRT may be overrepresented. The use of TOC-M in FSC appears promising and warrants further prospective evaluation.

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report

BackgroundCrouzon syndrome, a rare genetic disorder characterized by premature closure of coronal sutures, results in skull and facial deformities along with abnormal brain and ocular development.Case presentationHere, we report a case of a 27-year-old ethnic han male patient who presented with complex binocular strabismus secondary to Crouzon syndrome. At the time of surgery, extraocular muscles were found to be fibrotic and results of the pathological examination revealed degeneration of muscle fibers, which were replaced by adipose tissue. The entire exome sequencing DNA testing indicated that the patient and his father possessed the fibroblast growth factor receptor 2 (FGFR2) gene c.G812T:p.G271V heterozygous mutation. Binocular strabismus corrective surgery was performed in this patient with a satisfactory outcome.ConclusionsThis case demonstrates that Crouzon syndrome patients can show an FGFR2 gene c.G812T:p.G271V mutation and display clinical symptoms such as extraocular muscle fibrosis, exotropia, exophthalmos, and a pointed head deformity.

Prognostic risk stratification of intracranial injuries fractures of the skull after a traumatic brain injury of mild severity

Craniocerebral trauma is a significant medical and social problem affecting all demographic groups of the population, leading to persistent or temporary disability and even mortality. Fractures in mild TBI can lead to severe damage to the structures of the brain, which is manifested by the corresponding symptoms. Prognostic analyses of fractures of the skull in head injury of mild severity is needed to identify patients with an increased risk of residual impacts and to use resources more risk averse subgroup. A large-scale retrospective study of 2228 patients of both sexes and different age groups was conducted. Risk stratification of prognostic clinical signs determining the probability of intracranial lesions in patients with mild and moderate TBI was performed. When detecting fractures and their combination, prognostic criteria are: headache, loss of consciousness, alcohol intoxication, GCS, skull deformity, bleeding from the nose or ear, liquorrhea, dangerous injury mechanisms such as an accident, a dangerous fall as a fall on the back of the head or a fall above one’s height, work injury, fracture of the bones of the cranial vault (by CT), fracture of the skull base (by CT), epidural hematoma, foci of brain contusion, foci of SAC and depressed fracture.

Comparison of Surgical Techniques for Intracranial Arachnoid Cysts: A Volumetric Analysis.

In the surgical treatment of intracranial arachnoid cysts (IACs), microsurgical fenestration (MF), endoscopic fenestration (EF), cystoperitoneal shunt (CPS), and combinations of these techniques can be used. This study aims to compare volumetric changes of IAC in different surgical techniques. Sixty-six patients who underwent IAC surgery in our department between 2010 and 2020 were studied retrospectively. Based on the surgical technique, clinical and volumetric changes, postoperative complications, recurrence rates, and length of hospital stay were statistically compared. MF was performed on 32 (48.5%) patients, EF on 17 patients, CPS on 11 patients, and EF + CPS in six patients. The mean IAC volume change rate was 68.54 mL, and the mean cyst volume change rate was 40.68%. The MF technique produces a significantly greater mean cyst volume change than the EF technique. The mean volume change in sylvian IAC is 4.8 times greater than in posterior fossa IAC, a significant difference. The mean cyst volume change is four times greater in patients with skull deformity than in patients with balance loss, and this difference is statistically significant. In patients with cranial deformity, the mean cyst volume change is 2.6 times greater than in patients with neurological dysfunction. This difference is also statistically significant. The volume of IAC decreased more in patients with postoperative complications, with a significant difference between the postoperative complication and the change in IAC volume. MF can achieve better volumetric reduction in IAC, particularly in patients with sylvian arachnoid cysts. However, more volumetric reduction increases the risk of postoperative complications.

Determination of severity of harm caused to health in depressed skull deformation by «ping-pong» type in an infant

Determination of severity of harm caused to health in depressed skull deformation by «ping-pong» type in an infant

Using a 3D asymmetry index as a novel form for capturing complex three-dimensionality in positional plagiocephaly

Positional plagiocephaly (PP) is the most common skull deformity in infants. Different classification systems exist for graduating the degree of PP, but all of these systems are based on two-dimensional (2D) parameters. This limitation leads to several problems stemming from the fact that 2D parameters are used to classify the three-dimensional (3D) shape of the head. We therefore evaluate existing measurement parameters and validate a newly developed 3D parameter for quantifying PP. Additionally, we present a new classification of PP based on a 3D parameter. 210 patients with PP and 50 patients without PP were included in this study. Existing parameters (2D and 3D) and newly developed volume parameters based on a 3D stereophotogrammetry scan were validated using ROC curves. Additionally, thresholds for the new 3D parameter of a 3D asymmetry index were assessed. The volume parameter 3D asymmetry index quantifies PP equally as well as the gold standard of 30° diagonal difference. Moreover, a 3D asymmetry index allows for a 3D-based classification of PP. The 3D asymmetry index can be used to define the degree of PP. It is easily applicable in stereophotogrammetric datasets and allows for comparability both intra- and inter-individually as well as for scientific analysis.

Using Magnetic Resonance Imaging During Childbirth to Demonstrate Fetal Head Moldability and Brain Compression: Prospective Cohort Study.

Childbirth is a physiological process with significant medical risk, given that neurological impairment due to the birthing process can occur at any time. Improvements in risk assessment and anticipatory interventions are constantly needed; however, the birthing process is difficult to assess using simple imaging technology because the maternal bony pelvis and fetal skeleton interfere with visualizing the soft tissues. Magnetic resonance imaging (MRI) is a noninvasive technique with no ionizing radiation that can monitor the biomechanics of the birthing process. However, the effective use of this modality requires teamwork and the implementation of the appropriate safeguards to achieve appropriate safety levels. This study describes a clinically effective and safe method to perform real-time MRI during the birthing process. We reported the experience of our team as part of the IMAGINAITRE study protocol (France), which aimed to better understand the biomechanics of childbirth. A total of 27 pregnant women were examined with 3D MRI sequences before going into labor using a 1-Tesla open-field MRI. Of these 27 patients, 7 (26%) subsequently had another set of 3D MRI sequences during the second stage of labor. Volumes of 2D images were transformed into finite element 3D reconstructions. Polygonal meshes for each part of the fetal body were used to study fetal head moldability and brain compression. All 7 observed babies showed a sugarloaf skull deformity and brain compression at the middle strait. The fetus showing the greatest degree of molding and brain shape deformation weighed 4525 g and was born spontaneously but also presented with a low Apgar score. In this case, observable brain shape deformation demonstrated that brain compression had occurred, and it was not necessarily well tolerated by the fetus. Depending on fetal head moldability, these observations suggest that cephalopelvic disproportion can result in either obstructed labor or major fetal head molding with brain compression. This study suggests the presence of skull moldability as a confounding factor explaining why MRI, even with the best precision to measure radiological landmarks, fails to accurately predict the modality of childbirth. This introduces the fetal head compliance criterion as a way to better understand cephalopelvic disproportion mechanisms in obstetrics. MRI might be the best imaging technology by which to explore all combined aspects of cephalopelvic disproportion and achieve a better understanding of the underlying mechanisms of fetal head molding and moldability.

A Systematic Review of Positional Plagiocephaly Prevention Methods for Patients in Development

Positional plagiocephaly is an asymmetrical skull deformation caused by various factors. Although it is not responsible for abnormal brain development in infants and is not related to the onset of neurophysiological problems, it is critical to prevent skull deformity to avoid aesthetic and functional consequences. The purpose of the study is to investigate the relevance of preventive procedures to the onset of positional plagiocephaly, such as the use of passive mattresses, which is primarily correlated with the need for newborns and infants to sleep and rest in proper posture. PubMed, Web of Science, Google Scholar, Scopus, Cochrane Library, and Embase were searched for papers that matched our topic, dating from January 2012 to 22 October 2022, with an English language restriction, using the following Boolean keywords: (“positional plagiocephaly” AND “prevention”). A total of 11 papers were included as relevant papers matching the purpose of our investigation. According to the research results, inadequate vitamin D and folic acid intake during pregnancy may increase the risk of skull deformation. Furthermore, babies should sleep on their backs and spend at least 30 min in tummy time. Using a passive sleep curve mattress has several advantages such as low cost, easy handling, no compliance system, and a marked improvement in head shape, allowing harmonious skull growth guided by normal brain expansion.

Cranial deformation in the northwestern Caspian Sea region in the Bronze Age: Siberian parallels

AbstractThis research examined the occipitoparietal deformations of the Early Bronze Age skulls from the southern European part of Russia and the similarities between those deformations and head modifications among the population of the Okunev culture in Southern Siberia. The study objects used were 3D models of neurocrania from 41 individuals retrieved from Early Bronze Age graves in the northwestern Caspian Sea region and 64 individuals from the Okunev graves. Analyses, of the skull shape variations, included geometric morphometrics, generalized Procrustes analysis, and principal component analysis with visualization of morphological changes as heat maps. Statistically significant differences between the subgroups were tested by performing dispersion analysis (ANOVA) using the Geomorph package. The samples of Early Bronze Age skulls from the southern European part of Russia showed differences between deformed and non‐deformed skulls, as well as differences in the location of the deformed regions in both males and females. The differences between chronological groups turned out to be stronger than the difference between undeformed and deformed skulls in the Okunev samples. The next analysis focused only on the Okunev deformed skulls involving a study and assessment of the differences in the types of deformation between the early and late subgroups. The final analysis demonstrated similarities between the Bronze Age male deformed neurocrania from the northwestern Caspian Sea region and those from the early Okunev culture. The study confirmed the occipitoparietal flattening on the Bronze Age skulls from the southern European part of Russia using geometric morphometrics. This skull deformation finds analogies among deformed male neurocrania from the early chronological horizons of the Okunev culture. The similarity of head modifications in populations from different geographical regions indicates contact between these populations. This is confirmed by archaeological data and nonmetric cranial traits.

Multidirectional Cranial Distraction Osteogenesis for Craniosynostosis

In this article we explain in detail the Multidirectional Cranial Distraction Osteogenesis(MCDO)procedure for treating craniosynostosis, in which the multiple cranial bone flaps are pulled up in different directions by the external distractor with the helmet-type frame. MCDO has several advantages over conventional procedures such as unilateral cranial distraction osteogenesis(UCDO). First, the design of the osteotomy in MCDO is flexible depending on the deformities. Each bone flap can be moved to the desired direction in MCDO, while being moved only in one direction along the axis of the distractor in UCDO. This enables remodeling of the deformed cranium to the desired shape. Second, compared with UCDO, the distance between each bone flap after distraction is narrower in MCDO, allowing earlier bone formation and fusion, and thus a shorter consolidation period. Third, the expansion efficacy of MCDO is greater than that of UCDO. The maximum defects of MCDO were the large amount of osteotomy and the resulting heavy bleeding. Therefore, we have recently attempted to improve the design and procedure of osteotomy. The MCDO method allows all phenotypes of skull deformity to be reshaped by distraction osteogenesis.

Bruno Schulz's 1933 Monograph: On the Hereditary Etiology of Schizophrenia.

In his 1933 article, Bruno Schulz reported a follow-up and reanalysis of the schizophrenic probands and their relatives first studied by Rüdin 20 years earlier that sought to clarify whether schizophrenia was a valid "unit-character" for Mendelian genetic analysis. He proposed a range of subgroupings of probands, particularly traditional subtyping, presence or absence of identifiable causal influences, and outcome. He then compared those subgroupings in several ways, most commonly by the risk for schizophrenia in their siblings and by the level of resemblance among proband-sibling affected pairs. Of his many findings, those of greatest interest included (1) probands with possible and probable physical causes, particularly those with head trauma, had substantially lower risk of illness in siblings, (2) probands with a hebephrenic subtype had a striking elevation of risk for schizophrenia in siblings, (3) probands with psychological causes had higher rates of good outcome, (4) proband-sibling pairs resembled one another for the classical schizophrenic subtypes, and (5) an absence of any cases of schizophrenia in siblings of a small group of schizophrenic probands with birth complications, convulsions, and skull deformities. Schulz used this sample in a fundamentally different way than Rüdin. Rather than seeking for Mendelian transmission patterns, Schulz used family data to evaluate hypothesis about clinical/etiological heterogeneity, thereby presaging many subsequent family studies of psychiatric disorders. While Schulz did not claim to have proved the etiologic heterogeneity of schizophrenia, he raised important questions, still unanswered, about whether schizophrenia is a legitimate "unit-character" appropriate for genetic analysis.

Commentary on "Reliability of Using a Smartphone Application to Objectify Skull Deformation".

Commentary on "Reliability of Using a Smartphone Application to Objectify Skull Deformation".

Análisis en clave de género de contextos mortuorios en una capital incaica del Collasuyu (Tilcara, Argentina)

From a gender perspective and through contextual and bioarchaeological studies of women found in the Pucará de Tilcara, Quebrada de Humahuaca, we propose to analyze and determine differences in social status and funerary practices. The Pucará de Tilcara has a vast collection of human skeletal remains, so far consisting of 227, mostly male, individuals. We analyzed the archaeological contexts of recent systematic excavations and established the sets of remains found in collections, by examining the entry numbers of the museum catalogs. We also estimated sex, age, and signs of the presence of artificial skull deformation. In relation to mortuary practices that can provide information on social divisions between women and men, as we deepened the bioanthropological and archaeological studies of the samples, we understood that there are no marked differences in terms of biological sex or exclusivity in the demarcation of gender. The differences detected in the various types of mortuary treatment occur in both female and male contexts. This first characterization of the type of mortuary treatment once again reflects on the manifestations of gender identity in pre-Hispanic Andean societies. In conclusion, the evidence shows that there was a wide range of forms of positioning within society, both in life and during death, in which pre-Hispanic gender expressions did not occur as it was considered for centuries, that is, as a consequence of a Western imposition.

Smartphone based Monitoring of Pediatric Craniofacial Deformities

Abstract Craniofacial deformities such as positional skull deformities are widespread in infants. The early detection of these deformities is crucial for the effective treatment and the associated minimization or prevention of visual and pathological abnormalities. This paper presents a solution for the early detection of craniofacial deformities using easy available materials in both the domestic and clinical environments. For this purpose, suitable web technologies as well as webserver systems are used in the context of app and server development. Users can use the app to take a bird's eye view of the child's head and use a 50ct coin as scale to then automatically obtain calculated clinical parameters which they can compare with clinical standard values to rule in or out a skull deformity. The concept represents a way to compensate for the lack of specialists in craniofacial surgery as well as knowledge gaps and to digitize care concepts in the healthcare system.

Classification of Skull Shape Deformities Related to Craniosynostosis on 3D Photogrammetry.

Implementation of the Utrecht Cranial Shape Quantificator (UCSQ) classification method on 3D photogrammetry in patients with different types of craniosynostosis is the aim of the present study. Five children (age <1 year) of every group of the common craniosynostoses (scaphocephaly, brachycephaly, trigonocephaly, right-sided and left-sided anterior plagiocephaly) were randomly included. The program 3-Matic (v13.0) was used to import and analyze the included 3dMD photos. Three external landmarks were placed. Using the landmarks, a base plane was created, as well as a plane 4cm superior to the base plane. Using UCSQ, we created sinusoid curves of the patients, the resulting curves were analyzed and values were extracted for calculations. Results per patient were run through a diagnostic flowchart in order to determine correctness of the flowchart when using 3D photogrammetry. Each of the patients (n=25) of the different craniosynostosis subgroups is diagnosed correctly based on the different steps in the flowchart. This study proposes and implements a diagnostic approach of craniosynostosis based on 3D photogrammetry. By using a diagnostic flowchart based on specific characteristics for every type of craniosynostosis related to specific skull deformities, diagnosis can be established. All variables are expressed in number and are therefore objective.