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Keywords = cranial fracture analysis

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13 pages, 643 KB  
Article
3D-CT-Based Assessment of Total Cranial Fracture Length in Relation to Fall Height and Manner of Death in Fatal Free Falls
by Filip Woliński, Jolanta Sado, Kacper Kraśnik, Justyna Sagan, Dominika Skarbek, Jacek Baj, Tomasz Cywka, Biagio Solarino, Alicja Forma and Grzegorz Teresiński
Appl. Sci. 2026, 16(11), 5218; https://doi.org/10.3390/app16115218 - 22 May 2026
Abstract
Fatal free falls (FFF) represent a distinct form of blunt force trauma and pose a significant challenge in forensic investigations, particularly in estimating fall height and differentiating between accidental and suicidal events. Postmortem computed tomography (PMCT) enables detailed assessment of skeletal injuries, including [...] Read more.
Fatal free falls (FFF) represent a distinct form of blunt force trauma and pose a significant challenge in forensic investigations, particularly in estimating fall height and differentiating between accidental and suicidal events. Postmortem computed tomography (PMCT) enables detailed assessment of skeletal injuries, including quantitative evaluation of skull fracture patterns. Total Cranial Fracture Length (TCFL), derived from three-dimensional CT skull fracture scoring (3D-CT-SF), has been proposed as an objective indicator of impact severity; however, available evidence remains limited. This study aimed to assess the relationship between TCFL and fall height in fatal free falls and to evaluate the influence of selected anthropometric and biomechanical variables on cranial fracture severity. A retrospective analysis of 76 fatal free-fall cases examined between 2016 and 2024 was conducted using PMCT and autopsy data. TCFL was measured on three-dimensional volume-rendered CT reconstructions of calvarial fractures. Statistical analyses were performed for the entire cohort and separately for accidental and suicidal falls. No significant correlation between TCFL and fall height was observed in the overall cohort or among suicide cases. In contrast, a significant negative correlation between TCFL and fall height category was identified in accidental falls. TCFL showed significant positive correlations with body mass, body mass index (BMI), and kinetic energy, particularly in the suicide subgroup. TCFL is a promising objective parameter for assessing the severity of cranial injury in fatal free-fall cases. While its utility in estimating fall height appears limited in suicidal falls, TCFL may support forensic interpretation of fall dynamics and contribute to distinguishing the manner of death, especially in accidental cases. Further studies in larger, more diverse populations are warranted. Full article
(This article belongs to the Section Biomedical Engineering)
15 pages, 2862 KB  
Article
Deep Learning-Based Prediction Model of Surgical Indication of Nasal Bone Fracture Using Waters’ View
by Dong Yun Lee, Soo A Lim and Su Rak Eo
Diagnostics 2025, 15(18), 2386; https://doi.org/10.3390/diagnostics15182386 - 19 Sep 2025
Cited by 1 | Viewed by 2064
Abstract
Background/Objectives: The nasal bone is critical to both the functional integrity and esthetic contour of the facial skeleton. Nasal bone fractures constitute the most prevalent facial fracture presentation in emergency departments. The identification of these fractures and the determination of immediate intervention requirements [...] Read more.
Background/Objectives: The nasal bone is critical to both the functional integrity and esthetic contour of the facial skeleton. Nasal bone fractures constitute the most prevalent facial fracture presentation in emergency departments. The identification of these fractures and the determination of immediate intervention requirements pose significant challenges for inexperienced residents, potentially leading to oversight. Methods: A retrospective analysis was conducted on facial trauma patients undergoing cranial radiography (Waters’ view) during initial emergency department assessment between March 2008 and July 2022. This study incorporated 2099 radiographic images. Surgical indications comprised the displacement angle, interosseous gap size, soft tissue swelling thickness, and subcutaneous emphysema. A deep learning-based artificial intelligence (AI) algorithm was designed, trained, and validated for fracture detection on radiographic images. Model performance was quantified through accuracy, precision, recall, and F1 score. Hyperparameters included the batch size (20), epochs (70), 50-layer network architecture, Adam optimizer, and initial learning rate (0.001). Results: The deep learning AI model employing segmentation labeling demonstrated 97.68% accuracy, 82.2% precision, 88.9% recall, and an 85.4% F1 score in nasal bone fracture identification. These outcomes informed the development of a predictive algorithm for guiding conservative versus surgical management decisions. Conclusions: The proposed AI-driven algorithm and criteria exhibit high diagnostic accuracy and operational efficiency in both detecting nasal bone fractures and predicting surgical indications, establishing its utility as a clinical decision-support tool in emergency settings. Full article
(This article belongs to the Special Issue Advances in Plastic Surgery: Diagnosis, Management and Prognosis)
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23 pages, 5370 KB  
Article
Evidence of Chronic Tusk Trauma and Compensatory Scoliosis in Mammuthus meridionalis from Madonna della Strada (Scoppito, L’Aquila, Italy)
by Leonardo Della Salda, Amedeo Cuomo, Franco Antonucci, Silvano Agostini and Maria Adelaide Rossi
Quaternary 2025, 8(3), 46; https://doi.org/10.3390/quat8030046 - 7 Aug 2025
Viewed by 1898
Abstract
A remarkably well-preserved skeleton of a male Mammuthus meridionalis, approximately 60 years old, from the Early Pleistocene that is housed at the Castle of L’Aquila (Italy) exhibits a fractured left tusk with severe bone erosion of the alveolus and premaxillary bone, as [...] Read more.
A remarkably well-preserved skeleton of a male Mammuthus meridionalis, approximately 60 years old, from the Early Pleistocene that is housed at the Castle of L’Aquila (Italy) exhibits a fractured left tusk with severe bone erosion of the alveolus and premaxillary bone, as well as marked spinal deformities. The cranial region underwent ultrasonographic, radiological, and histological examinations, while morphological and biomechanical analyses were conducted on the vertebral column. Microscopic analysis revealed intra vitam lesions, including woven bone fibers indicative of early bone remodeling and lamellar bone with expanded and remodeled Haversian systems. These findings are consistent with osteomyelitis and bone sequestration, likely resulting from chronic pulpitis following the tusk fracture, possibly due to an accident or interspecific combat. The vertebral column shows cervical scoliosis, compensatory curves, fusion between the first cervical vertebrae, and asymmetric articular facets, suggesting postural adaptations. Evidence of altered molar wear and masticatory function also support long-term survival post-trauma. Additionally, lesions compatible with spondyloarthropathy, an inflammatory spinal condition not previously documented in Mammuthus meridionalis, were identified. These findings provide new insights into the pathology and adaptive responses of extinct proboscideans, demonstrating the critical role of (paleo)histological methods in reconstructing trauma, disease, and aspects of life history in fossil vertebrates. Full article
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10 pages, 232 KB  
Article
Electric Scooter Trauma in Rome: A Three-Year Analysis from a Tertiary Care Hospital
by Bruno Cirillo, Mariarita Tarallo, Giulia Duranti, Paolo Sapienza, Pierfranco Maria Cicerchia, Luigi Simonelli, Roberto Cirocchi, Matteo Matteucci, Andrea Mingoli and Gioia Brachini
J. Clin. Med. 2025, 14(10), 3615; https://doi.org/10.3390/jcm14103615 - 21 May 2025
Cited by 3 | Viewed by 2764
Abstract
Background: Electric motorized rental scooters (ES) were introduced in Italy in 2019 as an alternative form of urban transportation, aiming to reduce traffic congestion and air pollution. As their popularity has grown, a parallel increase in ES-related injuries has been observed. This study [...] Read more.
Background: Electric motorized rental scooters (ES) were introduced in Italy in 2019 as an alternative form of urban transportation, aiming to reduce traffic congestion and air pollution. As their popularity has grown, a parallel increase in ES-related injuries has been observed. This study aims to investigate the types and patterns of ES-related injuries and to identify potentially modifiable risk factors. Methods: We conducted a retrospective analysis of all consecutive patients admitted to the Emergency Department of Policlinico Umberto I in Rome between January 2020 and December 2022 following ES-related trauma. Collected data included demographics, injury mechanisms and types, helmet use, Injury Severity Score (ISS), blood alcohol levels, and patient outcomes. Results: A total of 411 individuals presented to the Emergency Department due to ES-related injuries, either as riders or pedestrians. The mean age was 31 years (range: 2–93); 38 patients (9%) were under 18 years of age. Fifty-six accidents (14%) occurred during work-related commutes. Only three riders (0.7%) wore helmets, and nine patients (2%) had blood alcohol levels > 0.50 g/L. Cranial injuries (134 cases, 32%) and upper limb fractures (93 cases, 23%) were the most frequently reported serious injuries. The mean ISS was 4.5; 17 patients (4%) had an ISS ≥ 16. A total of 270 orthopedic injuries and 118 (29%) maxillofacial injuries were documented. Head trauma was reported in 115 patients (28%), with 19 cases classified as severe traumatic brain injuries. Twenty-three patients (5.5%) were hospitalized, three (0.7%) required intensive care, and one patient (0.2%) died. Conclusions: ES-related injuries are becoming increasingly common and present a significant public health concern. A nationwide effort is warranted to improve rider safety through mandatory helmet use, protective equipment, alcohol consumption control, and stricter enforcement of speed regulations. Full article
(This article belongs to the Section General Surgery)
11 pages, 408 KB  
Article
Munich cCT Rule for Patients with Recreational Drug and Ethanol Poisoning
by Tobias Zellner, Felix Wegscheider, Michael Dommasch, Florian Eyer, Rebecca Dieminger and Sabrina Schmoll
J. Clin. Med. 2024, 13(23), 7096; https://doi.org/10.3390/jcm13237096 - 24 Nov 2024
Viewed by 1324
Abstract
Background: Patients with recreational drug and ethanol poisoning often present with reduced consciousness, coma, or disorientation. It is often unclear if there was recent head trauma. Algorithms to perform cranial computed tomography (cCT) like the Canadian CT Head Rule (CCHR), the National Emergency [...] Read more.
Background: Patients with recreational drug and ethanol poisoning often present with reduced consciousness, coma, or disorientation. It is often unclear if there was recent head trauma. Algorithms to perform cranial computed tomography (cCT) like the Canadian CT Head Rule (CCHR), the National Emergency X-Radiography Utilization Study Head CT Decision Instrument (NEXUS DI), or the New Orleans Criteria (NOC) exist for patients with head trauma. It is unclear whether these algorithms can be applied to this patient collective. Methods: This is a retrospective data analysis of patients admitted to our emergency department with drug or ethanol poisoning in 2019. Minors < 16 years were excluded. The primary outcome was fracture/bleeding in cCT, the secondary outcome was neurosurgical intervention. These results were calculated: 1. Sensitivity and negative predictive value (NPV) of the CCHR, NEXUS DI, and NOC. 2. Uni- and multivariate analysis of risk factors for critical findings. 3. The Munich cCT Rule sensitivity and NPV. Results: A total of 420 patients were included. cCT was performed in 120 patients. Eight patients had fracture/bleeding in cCT, two required neurosurgical intervention. The number of patients at risk, sensitivity, and NPV for critical cCT findings were as follows: CCHR 57/25%/98.3%, NEXUS DI 239/100%/100%, NOC 420/100%/100%. The sensitivity and NPV for neurosurgical intervention were as follows: CCHR 50%/99.7%, NEXUS DI 100%/100%, NOC 100%/100%. In univariate analysis, these findings correlated significantly with the following critical findings: accident, injury, injury above clavicle, head wound, anisocoria, ethanol in serum > 2 g/L, hypotension, drug ingestion, GCS < 8, focal neurological deficit, age > 60, and cerebellar symptoms. Via chi-square recursive partitioning analysis, we created the Munich cCT Rule which is positive for intoxicated patients if both an accident and an ethanol level > 2 g/L are present. This identified 70 patients at risk. It excluded fracture/bleeding and neurosurgical intervention with a sensitivity and NPV of 100%. Conclusions: Fracture/bleeding in cCT in intoxicated patients is rare. Performing unnecessary cCTs should be avoided. The Munich cCT Rule for patients with recreational drug and ethanol poisoning may help rule out critical findings and is superior to the NEXUS DI and NOC. It also has a 100% sensitivity which the CCHR (25%) is lacking. Full article
(This article belongs to the Special Issue Clinical Advances in Trauma and Emergency Medicine)
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11 pages, 1499 KB  
Article
Temporal Bone Fractures and Related Complications in Pediatric and Adult Cranio-Facial Trauma: A Comparison of MDCT Findings in the Acute Emergency Setting
by Romain Kohler, Marcella Pucci, Basile Landis, Pascal Senn, Pierre-Alexandre Poletti, Paolo Scolozzi, Seema Toso, Minerva Becker and Alexandra Platon
Tomography 2024, 10(5), 727-737; https://doi.org/10.3390/tomography10050056 - 10 May 2024
Cited by 4 | Viewed by 7045
Abstract
Purpose: The purpose of this study was to analyze the prevalence of and complications resulting from temporal bone fractures in adult and pediatric patients evaluated for cranio-facial trauma in an emergency setting. Methods: A retrospective blinded analysis of CT scans of a series [...] Read more.
Purpose: The purpose of this study was to analyze the prevalence of and complications resulting from temporal bone fractures in adult and pediatric patients evaluated for cranio-facial trauma in an emergency setting. Methods: A retrospective blinded analysis of CT scans of a series of 294 consecutive adult and pediatric patients with cranio-facial trauma investigated in the emergency setting was conducted. Findings were compared between the two populations. Preliminary reports made by on-call residents were compared with the retrospective analysis, which was performed in consensus by two experienced readers and served as reference standard. Results: CT revealed 126 fractures in 116/294 (39.5%) patients, although fractures were clinically suspected only in 70/294 (23.8%); p < 0.05. Fractures were longitudinal, transverse and mixed in 69.5%, 10.3% and 19.8% of cases, respectively. Most fractures were otic-sparing fractures (95.2%). Involvement of the external auditory canal, ossicular chain and the osseous structures surrounding the facial nerve was present in 72.2%, 8.7% and 6.3% of cases, respectively. Temporal bone fractures extended into the venous sinuses/jugular foramen and carotid canal in 18.3% and 17.5% of cases, respectively. Vascular injuries (carotid dissection and venous thrombosis) were more common in children than in adults (13.6% versus 5.3%); however, the observed difference did not reach statistical significance. 79.5% of patients with temporal bone fractures had both brain injuries and fractures of the facial bones and cranial vault. Brain injuries were more common in adults (90.4%) than in children (63.6%), p = 0.001. Although on-call residents reliably detected temporal bone fractures (sensitivity = 92.8%), they often missed trauma-associated ossicular dislocation (sensitivity = 27.3%). Conclusions: Temporal bone fractures and related complications are common in patients with cranio-facial trauma and need to be thoroughly looked for; the pattern of associated injuries is slightly different in children and in adults. Full article
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15 pages, 4348 KB  
Article
Prevalence and Characterization of Dental and Skull-Bone Pathologies of the Raccoon Dog (Nyctereutes procyonoides) in Lithuania
by Eugenijus Jurgelėnas, Indrė Jasinevičiūtė and Linas Daugnora
Animals 2023, 13(15), 2437; https://doi.org/10.3390/ani13152437 - 27 Jul 2023
Cited by 3 | Viewed by 3086
Abstract
The present investigation endeavours to discern dental and non-dental pathologies affecting cranial structures of raccoon dogs, while focusing on cases of periodontitis. Furthermore, the study aims to conduct a comparative analysis based on sex and the nature of the pathologies encountered. The number [...] Read more.
The present investigation endeavours to discern dental and non-dental pathologies affecting cranial structures of raccoon dogs, while focusing on cases of periodontitis. Furthermore, the study aims to conduct a comparative analysis based on sex and the nature of the pathologies encountered. The number of investigated skulls amounted to 126, including 76 males and 50 females. The predominant pathology identified was hypodontia, which accounted for 26.7% of males and 20% of females. Notably, the majority of hypodontia cases involved the absence of the mandibular third molar. Another noteworthy pathology was various stages of periodontitis, with rates ranging from 21.3% in males to 8% in females. Other pathologies, like tooth fractures and abrasion, were significantly less encountered. Excessive bone formation was relatively abundant and localized in specific areas—the parietal bone and the occipital regions. This tendency was observed in 8% of male cases and 6% of females. We found that the total number of dental and skull-bone pathologies is significantly more common in males than in females (p = 0.003). Additionally, the total number of various cases of periodontitis is more common in males too (p = 0.04). Full article
(This article belongs to the Special Issue Wildlife Diseases: Pathology and Diagnostic Investigation)
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16 pages, 809 KB  
Article
Justification of Indication for Cranial CT Imaging after Mild Traumatic Brain Injury According to the Current National Guidelines
by Andreas Sakkas, Christel Weiß, Frank Wilde, Marcel Ebeling, Mario Scheurer, Oliver Christian Thiele, Robert Andreas Mischkowski and Sebastian Pietzka
Diagnostics 2023, 13(11), 1826; https://doi.org/10.3390/diagnostics13111826 - 23 May 2023
Cited by 9 | Viewed by 5423
Abstract
The primary aim was to evaluate the compliance of cranial CT indication with the national guideline-based decision rules in patients after mTBI. The secondary aim was to determine the incidence of CT pathologies among justified and unjustified CT scans and to investigate the [...] Read more.
The primary aim was to evaluate the compliance of cranial CT indication with the national guideline-based decision rules in patients after mTBI. The secondary aim was to determine the incidence of CT pathologies among justified and unjustified CT scans and to investigate the diagnostic value of these decision rules. This is a retrospective, single-center study on 1837 patients (mean age = 70.7 years) referred to a clinic of oral and maxillofacial surgery following mTBI over a five-year period. The current national clinical decision rules and recommendations for mTBI were retrospectively applied to calculate the incidence of unjustified CT imaging. The intracranial pathologies among the justified and unjustified CT scans were presented using descriptive statistical analysis. The performance of the decision rules was ascertained by calculating the sensitivity, specificity, and predictive values. A total of 123 intracerebral lesions were radiologically detected in 102 (5.5%) of the study patients. Most (62.1%) of the CT scans strictly complied with the guideline recommendations, and 37.8% were not justified and likely avoidable. A significantly higher incidence of intracranial pathology was observed in patients with justified CT scans compared with patients with unjustified CT scans (7.9% vs. 2.5%, p < 0.0001). Patients with loss of consciousness, amnesia, seizures, cephalgia, somnolence, dizziness, nausea, and clinical signs of cranial fractures presented pathologic CT findings more frequently (p < 0.05). The decision rules identified CT pathologies with 92.28% sensitivity and 39.08% specificity. To conclude, compliance with the national decision rules for mTBI was low, and more than a third of the CT scans performed were identified as “likely avoidable”. A higher incidence of pathologic CT findings was detected in patients with justified cranial CT imaging. The investigated decision rules showed a high sensitivity but low specificity for predicting CT pathologies. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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15 pages, 1169 KB  
Article
Clinical Indicators for Primary Cranial CT Imaging after Mild Traumatic Brain Injury—A Retrospective Analysis
by Andreas Sakkas, Christel Weiß, Marcel Ebeling, Frank Wilde, Sebastian Pietzka, Qasim Mohammad, Oliver Christian Thiele and Robert Andreas Mischkowski
J. Clin. Med. 2023, 12(10), 3563; https://doi.org/10.3390/jcm12103563 - 19 May 2023
Cited by 3 | Viewed by 3708
Abstract
The primary aim was to determine the clinical indicators for primary cranial CT imaging in patients after mild traumatic brain injury (mTBI). The secondary aim was to evaluate the need for post-traumatic short-term hospitalization based on primary clinical and CT findings. This was [...] Read more.
The primary aim was to determine the clinical indicators for primary cranial CT imaging in patients after mild traumatic brain injury (mTBI). The secondary aim was to evaluate the need for post-traumatic short-term hospitalization based on primary clinical and CT findings. This was an observational retrospective single-centre study of all the patients who were admitted with mTBI over a five-year period. Demographic and anamnesis data, the clinical and radiological findings, and the outcome were analyzed. An initial cranial CT (CT0) was performed at admission. Repeat CT scans (CT1) were performed after positive CT0 findings and in cases with in-hospital secondary neurological deterioration. Intracranial hemorrhage (ICH) and the patient’s outcome were evaluated using descriptive statistical analysis. A multivariable analysis was performed to find associations between the clinical variables and the pathologic CT findings. A total of 1837 patients (mean age: 70.7 years) with mTBI were included. Acute ICH was detected in 102 patients (5.5%), with a total of 123 intracerebral lesions. In total, 707 (38.4%) patients were admitted for 48 h for in-hospital observation and six patients underwent an immediate neurosurgical intervention. The prevalence of delayed ICH was 0.05%. A Glasgow Coma Scale (GCS) of <15, loss of consciousness, amnesia, seizures, cephalgia, somnolence, dizziness, nausea, and clinical signs of fracture were identified as clinical factors with significantly higher risk of acute ICH. None of the 110 CT1 presented clinical relevance. A GCS of <15, loss of consciousness, amnesia, seizures, cephalgia, somnolence, dizziness, nausea, and clinical signs of cranial fractures should be considered absolute indicators for primary cranial CT imaging. The reported incidence of immediate and delayed traumatic ICH was very low and hospitalization should be decided individually considering both the clinical and CT findings. Full article
(This article belongs to the Section Brain Injury)
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8 pages, 1273 KB  
Brief Report
Quantifying the Differences between 3D Virtual Planning and Attained Postoperative Reduction on CT for Patients with Tibial Plateau Fractures; a Clinical Feasibility Study
by Nynke van der Gaast, Jellina M. Huitema, Britt H. J. Edwards, Joy Verbakel, Dagmar S. Alderlieste, Job N. Doornberg, Michael J. R. Edwards, Ruurd L. Jaarsma, Erik Hermans and on behalf of the Traumaplatform 3D Consortium
J. Pers. Med. 2023, 13(5), 788; https://doi.org/10.3390/jpm13050788 - 1 May 2023
Viewed by 2029
Abstract
Background: Three-Dimensional Virtual Planning (3DVP) has been proven to be effective for limiting intra-articular screw penetration and improving the quality of reduction for numerous fractures. However, the value of 3DVP for patients with tibial plateau fractures has yet to be determined. Purposes [...] Read more.
Background: Three-Dimensional Virtual Planning (3DVP) has been proven to be effective for limiting intra-articular screw penetration and improving the quality of reduction for numerous fractures. However, the value of 3DVP for patients with tibial plateau fractures has yet to be determined. Purposes: The research question of this study is: Can Computed Tomography Micromotion Analysis (CTMA) provide a reliable quantification of the difference between 3DVP and the postoperative reduction on CT for tibial plateau fractures? Methods: Nine consecutive adult patients who received surgical treatment for a tibial plateau fracture and received pre- and postoperative CT scans were included from a level I trauma center in the Netherlands. The preoperative CT scans of the patients were uploaded in a 3DVP software. In this software, fracture fragments were reduced and the reduction was saved as a 3D file (STL). The quality of the reduction from the 3DVP software was compared with the postoperative results using CT Micromotion Analysis (CTMA). In this analysis, the translation of the largest intra-articular fragment was calculated by aligning the postoperative CT with the 3DVP. Coordinates and measurement points were defined in the X, Y, and Z axes. The combined values of X and Y were used to define the intra-articular gap. The Z-axis was defined as the line from cranial to caudal and was used to define intra-articular step-off. Results: The intra-articular step-off was 2.4 mm (Range 0.5–4.6). Moreover, the mean translation of the X-axis and Y-axis, which was defined as the intra-articular gap, was 4.2 mm (Range 0.6–10.7). Conclusions: 3DVP provides excellent insight into the fracture and its fragments. Utilizing the largest intra-articular fragment, it is feasible to quantify the difference between 3DVP and a postoperative CT using CTMA. A prospective study to further analyze the use of 3DVP in terms of intra-articular reduction and surgical and patient-related outcomes has been started by our team. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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12 pages, 2250 KB  
Article
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant
by Elena Merkuryeva, Tatiana Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga Shchagina, Mikhail Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali and Sergey Kutsev
Int. J. Mol. Sci. 2023, 24(9), 8021; https://doi.org/10.3390/ijms24098021 - 28 Apr 2023
Cited by 9 | Viewed by 3325
Abstract
Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low bone mineral density, spinal and peripheral fractures, and specific sclerotic lesions of the cranial bones. In the current classification [...] Read more.
Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low bone mineral density, spinal and peripheral fractures, and specific sclerotic lesions of the cranial bones. In the current classification of skeletal disorders, the disease is included in the group of bone fragility disorders along with osteogenesis imperfecta. The disease is caused by pathogenic variants in the SGMS2 gene, the protein product of which is sphingomyelin synthase 2, which primarily contributes to sphingomyelin (SM) synthesis—the main lipid component of the plasma membrane essential for bone mineralization. To date, 15 patients from eight families with CDL with bone fragility have been described in the literature, and a recurrent variant c.148C>T (p.Arg50Ter) in the SGMS2 gene has been identified, which was found in patients from six families. We diagnosed the disease in 11 more patients from three unrelated families, caused by the same heterozygous nonsense variant c.148C>T (p.Arg50Ter) in the SGMS2 gene. Our results show wide interfamilial and intrafamilial phenotypic variability in patients with a detected recurrent variant in the SGMS2 gene, the presence of which must be taken into consideration in the diagnosis of the disease. The primary analysis of this variant will contribute to optimal molecular genetic diagnostics, which can reduce diagnostic costs and time. Full article
(This article belongs to the Special Issue Advances in Human Hereditary Diseases: Genetics and Genomics Research)
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8 pages, 402 KB  
Article
Affection of Surgical Decompressive Scale of Optic Canal to Traumatic Optic Neuropathy
by Xinyu Li and Zhilin Guo
Brain Sci. 2022, 12(11), 1442; https://doi.org/10.3390/brainsci12111442 - 26 Oct 2022
Cited by 4 | Viewed by 1955
Abstract
Traumatic optic neuropathy (TON) is damage to the optic nerve that is caused by external violence to the optic nerve during cranial and facial trauma. This kind of injury may result in impaired vision, has a high risk of blindness, and significantly impairs [...] Read more.
Traumatic optic neuropathy (TON) is damage to the optic nerve that is caused by external violence to the optic nerve during cranial and facial trauma. This kind of injury may result in impaired vision, has a high risk of blindness, and significantly impairs the neurological function of the patient. The treatment of TON is controversial, and many different approaches have been suggested. No one is considered best because the traumatic mechanism is not clear. Methods: In this retrospective study, the clinical features of 37 patients diagnosed with TON without light perception who were treated at the Ninth People’s Hospital of Shanghai Jiao Tong University School of Medicine were investigated. A comparison was made between the patient’s visual results before and after therapy. In addition, using a multifactorial linear regression model, the independent risk variables for the degree of improvement in visual acuity (IDVA) following surgery were determined. Results: After the operation, 17 people’s visual acuity (VA) was lightless, 20 people’s visual acuity was improved, and 13 people’s visual acuity reached the standard of decerebrate. The efficiency of total optic nerve decompression was 54.1%, and the unblinded rate was 35.1%. Multiple linear regression analysis revealed that fractures of the optic canal and orbit were independent predictors of postoperative VA and IDVA. Conclusions: Total optic canal decompression may efficiently and safely enhance the vision of patients who have TON. Patients with TON who do not have fractures of the optic canal and orbit prior to decompression had a more favorable surgical prognosis. Full article
(This article belongs to the Section Neurosurgery and Neuroanatomy)
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14 pages, 374 KB  
Article
Incidence and Characteristics of Cranial Nerve Injuries: A Nationwide Observational Study in Japan
by Tomoya Hirose, Tetsuhisa Kitamura, Yusuke Katayama, Kenta Tanaka, Jotaro Tachino, Shunichiro Nakao, Kenichiro Ishida, Masahiro Ojima, Takeyuki Kiguchi, Yutaka Umemura, Kosuke Kiyohara and Jun Oda
J. Clin. Med. 2022, 11(16), 4852; https://doi.org/10.3390/jcm11164852 - 18 Aug 2022
Cited by 3 | Viewed by 3201
Abstract
Background: Large-scale data on cranial nerve injuries are scarce. Methods: This study enrolled 361,706 patients registered in the Japanese Trauma Data Bank from 2004 to 2018. We selected patients with cranial nerve injury using the corresponding Abbreviated Injury Scale codes and examined [...] Read more.
Background: Large-scale data on cranial nerve injuries are scarce. Methods: This study enrolled 361,706 patients registered in the Japanese Trauma Data Bank from 2004 to 2018. We selected patients with cranial nerve injury using the corresponding Abbreviated Injury Scale codes and examined the incidence and characteristics. Results: In total, 347,101 patients were eligible for inclusion in our analysis. By mechanism of trauma, all cranial nerve injuries occurred in <1% of registered cases. The highest incidence was 0.2190% (55/25,117) for facial nerve injury in bicycle crash. By cause of trauma, all cranial nerve injuries occurred in <1% of registered cases. The highest incidence was 0.1943% (37/19,044) for facial nerve injury in occupational injury. No patients with spinal accessory nerve injury were observed. The most common cranial nerve injury was to the facial nerve (n = 278). Most cranial nerve injury patients are in the 30s to 50s age range, and there was a male predominance. Multiple cranial nerve injuries were observed in 81 patients. Many cranial nerve injury cases are complicated by skull base fractures. Conclusions: We revealed the incidence and characteristics of cranial nerve injury. Our findings may help physicians detect these injuries at an early stage in patients at risk. Full article
(This article belongs to the Section Emergency Medicine)
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15 pages, 1278 KB  
Article
A Comparative Study of Intravital CT and Autopsy Findings in Fatal Traumatic Injuries
by Roman Kuruc, Andrea Szórádová, Ján Šikuta, Ľubomír Mikuláš and Jozef Šidlo
Healthcare 2022, 10(8), 1465; https://doi.org/10.3390/healthcare10081465 - 4 Aug 2022
Cited by 11 | Viewed by 3909
Abstract
Objectives: Traumatic injuries are one of the severe health problems of our time. In the 21st Century, approximately 4.5 million people worldwide die each year due to trauma. Computed tomography (CT) is widely used to diagnose injuries and offers information on the specific [...] Read more.
Objectives: Traumatic injuries are one of the severe health problems of our time. In the 21st Century, approximately 4.5 million people worldwide die each year due to trauma. Computed tomography (CT) is widely used to diagnose injuries and offers information on the specific location and extent of organ and tissue damage. In cases of severe trauma, whole-body CT is increasingly used as a standard diagnostic technique. An autopsy is the final diagnostic examination and is still considered the gold standard in diagnostic methods in medicine. The aim of the study was to assess the reliability and accuracy of CT scan results, as well as limits in detecting trauma for forensic purposes. It aims to compare traumatic findings in the antemortem CT results to those observed at autopsy. Materials and Methods: We conducted a retrospective–prospective study involving 510 deaths due to trauma. We compared selected traumatic changes in the antemortem CT scan results with the autopsy findings. We obtained data with a detailed analysis of autopsy protocols, photographic documentation from the autopsies, and the interpretation of CT scans from medical documentation. In cases of discrepancies in the findings, we borrowed CT scans, which were repeatedly reviewed by clinical radiologists. Results: By comparing the findings of selected injuries detected by antemortem CT and autopsy, we found a correlation of findings in 75.3% and a discrepancy of findings in 24.7% in a set of 510 cases. After repeated targeted assessment of CT images by clinical radiologists in cases of discrepancies in the findings, which were detected by autopsy and undescribed by CT, the discrepancy decreased to 17%. Conclusions: The results of the study are comparable with data from many studies and professional publications. They show that CT compared to autopsy is a good method for diagnosing gunshot wounds to the head and bone fractures, with a limited diagnosis of cranial base fractures, while an autopsy is better for detecting minor injuries to organs and soft tissues. Full article
(This article belongs to the Section Forensic Medicine)
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14 pages, 6072 KB  
Article
Mechanical Strength Study of a Cranial Implant Using Computational Tools
by Pedro O. Santos, Gustavo P. Carmo, Ricardo J. Alves de Sousa, Fábio A. O. Fernandes and Mariusz Ptak
Appl. Sci. 2022, 12(2), 878; https://doi.org/10.3390/app12020878 - 15 Jan 2022
Cited by 11 | Viewed by 5108
Abstract
The human head is sometimes subjected to impact loads that lead to skull fracture or other injuries that require the removal of part of the skull, which is called craniectomy. Consequently, the removed portion is replaced using autologous bone or alloplastic material. The [...] Read more.
The human head is sometimes subjected to impact loads that lead to skull fracture or other injuries that require the removal of part of the skull, which is called craniectomy. Consequently, the removed portion is replaced using autologous bone or alloplastic material. The aim of this work is to develop a cranial implant to fulfil a defect created on the skull and then study its mechanical performance by integrating it on a human head finite element model. The material chosen for the implant was PEEK, a thermoplastic polymer that has been recently used in cranioplasty. A6 numerical model head coupled with an implant was subjected to analysis to evaluate two parameters: the number of fixation screws that enhance the performance and ensure the structural integrity of the implant, and the implant’s capacity to protect the brain compared to the integral skull. The main findings point to the fact that, among all tested configurations of screws, the model with eight screws presents better performance when considering the von Mises stress field and the displacement field on the interface between the implant and the skull. Additionally, under the specific analyzed conditions, it is observable that the model with the implant offers more efficient brain protection when compared with the model with the integral skull. Full article
(This article belongs to the Special Issue Biomechanics Research on Biological Soft Tissues)
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