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Anatomical Record (Hoboken, N.J. : 2007) Feb 2024Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180...
Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge. Variants of FGFR2 are highly associated with craniosynostosis and warrant further investigation. Using the missense mutation FGFR2 , an effective mouse model of Crouzon syndrome, craniofacial features were analyzed using geometric morphometrics across developmental time (E10.5-adulthood, n = 665 total). Given the interrelationship between the cranial vault and basicranium in craniosynostosis patients, the basicranium and synchondroses were analyzed in perinates. Embryonic time points showed minimal significant shape differences. However, hetero- and homozygous mutant perinates and adults showed significant differences in shape and size of the cranial vault, face, and basicranium, which were associated with cranial doming and shortening of the basicranium and skull. Although there were also significant shape and size differences associated with the basicranial bones and clear reductions in basicranial ossification in cleared whole-mount samples, there were no significant alterations in chondrocyte cell shape, size, or orientation along the spheno-occipital synchondrosis. Finally, shape differences in the cranial vault and basicranium were interrelated at perinatal stages. These results point toward the possibility that facial shape phenotypes in craniosynostosis may result in part from pleiotropic effects of the causative mutations rather than only from the secondary consequences of the sutural defects, indicating a novel direction of research that may shed light on the etiology of the broad changes in craniofacial morphology observed in craniosynostosis syndromes.
PubMed: 38409943
DOI: 10.1002/ar.25398 -
EJHaem Feb 2024Hairy cell leukemia (HCL) is a rare lymphoproliferative disorder classically presenting with cytopenia and recurrent infections but atypical manifestations such as bone...
Hairy cell leukemia (HCL) is a rare lymphoproliferative disorder classically presenting with cytopenia and recurrent infections but atypical manifestations such as bone lesions, skin lesions and effusion have been described. We report here an unusual meningeal localization in a 33 years old man who presented with headache, hand paresthesia and visual symptoms. Brain magnetic resonance imaging revealed an occipital meningeal lesion. Diagnostic explorations led to the diagnosis of classical HCL with meningeal localization. After treatment by cladribine and rituximab the patient rapidly improved and is still in complete remission 12 months after end of treatment. The literature review identified 9 other cases of HCL with central nervous system localization (CNS) presenting with brain parenchyma and/or meninges localization. Four out of 9 patients presented with hyperleukocytosis. Most patients experienced good responses with various treatments. Cladribine alone or with rituximab led to complete responses similar to our patient. In our patient, molecular biology revealed KLF2 mutations, which implication in the atypical localization could be suspected but would need dedicated studies. In conclusion, CNS localizations of HCL are rare but can be observed and treatment with cladribine alone or with rituximab appears as an effective strategy.
PubMed: 38406549
DOI: 10.1002/jha2.841 -
International Journal of Legal Medicine Jul 2024Post-mortem computed tomography (PMCT) enables the creation of subject-specific 3D head models suitable for quantitative analysis such as finite element analysis (FEA)....
Post-mortem computed tomography (PMCT) enables the creation of subject-specific 3D head models suitable for quantitative analysis such as finite element analysis (FEA). FEA of proposed traumatic events is an objective and repeatable numerical method for assessing whether an event could cause a skull fracture such as seen at autopsy. FEA of blunt force skull fracture in adults with subject-specific 3D models in forensic pathology remains uninvestigated. This study aimed to assess the feasibility of FEA for skull fracture analysis in routine forensic pathology. Five cases with blunt force skull fracture and sufficient information on the kinematics of the traumatic event to enable numerical reconstruction were chosen. Subject-specific finite element (FE) head models were constructed by mesh morphing based on PMCT 3D models and A Detailed and Personalizable Head Model with Axons for Injury Prediction (ADAPT) FE model. Morphing was successful in maintaining subject-specific 3D geometry and quality of the FE mesh in all cases. In three cases, the simulated fracture patterns were comparable in location and pattern to the fractures seen at autopsy/PMCT. In one case, the simulated fracture was in the parietal bone whereas the fracture seen at autopsy/PMCT was in the occipital bone. In another case, the simulated fracture was a spider-web fracture in the frontal bone, whereas a much smaller fracture was seen at autopsy/PMCT; however, the fracture in the early time steps of the simulation was comparable to autopsy/PMCT. FEA might be feasible in forensic pathology in cases with a single blunt force impact and well-described event circumstances.
Topics: Humans; Finite Element Analysis; Skull Fractures; Male; Imaging, Three-Dimensional; Tomography, X-Ray Computed; Forensic Pathology; Adult; Female; Middle Aged; Autopsy; Aged
PubMed: 38386034
DOI: 10.1007/s00414-024-03186-3 -
Anatomia, Histologia, Embryologia Mar 2024As technology has developed in recent years, the use of three-dimensional (3D) scanners and printers has become widespread in the medical field. However, since this...
Comparison of craniometric measurements of New Zealand rabbit (Oryctolagus cuniculus L.) using three-dimensional scanner with digital calliper measurements: A methodological study.
As technology has developed in recent years, the use of three-dimensional (3D) scanners and printers has become widespread in the medical field. However, since this field is new, all kinds of methodological and experimental related studies gain importance. This study aimed to identify the differences between the calliper measurements by determining the craniometric data on the models constructed by scanning the crania of New Zealand Rabbits (Oryctolagus cuniculus L.), preferred as experimental animals, with a three-dimensional scanner. Therefore, a total of 12 New Zealand rabbits including 6 females and 6 males were used. After the crania that comprised the study material were macerated, they were subjected to 3D scanning. After the scanning process was completed, they were craniometrically measured both on the scanned models and by using a digital calliper. Analysis of the craniometric data of the 3D scanner showed that there was a difference between sexes at the level of p < 0.05 in widest length between the external acoustic meatus (WLBEAM), skull width and Foramen magnum height (FMH) parameters and cranial index data, and at the level of p < 0.001 in the largest nasal width (LNW) parameter. A statistical difference was found between sexes in frontal length, WLBEAM, LNW and FMH parameters and cranial index values in craniometric data collected with the digital calliper (p < 0.05). Consequently, the data collected in this study were found to be close to each other in both methods, suggesting that the 3D scanner may be used in morphometric studies.
Topics: Male; Female; Rabbits; Animals; Skull; Cephalometry; Foramen Magnum; Head; Imaging, Three-Dimensional
PubMed: 38372086
DOI: 10.1111/ahe.13023 -
Journal of Cranio-maxillo-facial... Mar 2024This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome....
This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome. This retrospective cohort study enrolled patients who were diagnosed with Crouzon syndrome between May 2007 and April 2022. We categorized the patients into three groups: A, B, and C, according to the severity of increased ICP and the number of cranial vault remodeling procedures for corrective operation. The preoperative fusion states of the cranial base sutures/synchondroses were examined using facial bone computed tomography and compared between groups. Overall, 22 patients were included in Groups A, B, and C, including 8, 7, and 7 patients, respectively. The preoperative average grades of the total cranial base suture/synchondrosis fusion appeared to significantly increase with severity, except for the frontoethmoidal suture, which showed the opposite tendency. In the subgroup analysis, frontosphenoidal, sphenoparietal, sphenosquamosal, parietomastoid, and occipitomastoid suture and petro-occipital synchondrosis were associated with earlier fusion in the more severe group. Premature closure of the cranial base sutures/synchodroses seems to be associated with increased ICP severity in patients with Crouzon syndrome. Precise evaluation of minor sutures/synchondroses at the first visit might help build subsequent operative plans and predict disease prognosis.
Topics: Humans; Retrospective Studies; Intracranial Pressure; Cranial Sutures; Craniofacial Dysostosis; Skull Base; Sutures; Craniosynostoses
PubMed: 38369396
DOI: 10.1016/j.jcms.2024.02.011 -
Medicine Feb 2024Complications of rod migration into the occipital bone after upper cervical fusion are very rare. No other cases have been reported, especially when associated with...
RATIONALE
Complications of rod migration into the occipital bone after upper cervical fusion are very rare. No other cases have been reported, especially when associated with destructive spondyloarthropathy (DSA). The purpose of this case report is to remind clinicians of the risk of rod migration in cervical spine surgery in patients with DSA and to provide information on its causes, countermeasures, and treatment.
PATIENT CONCERN
This case report presents the clinical course of a 61-year-old female patient with chronic kidney disease that required hemodialysis.
DIAGNOSIS, INTERVENTION, OUTCOMES
The patient was diagnosed DSA involving the cervical spine. Initial treatment involved a halo vest, followed by anterior cervical corpectomy and fusion spanning from C5 to Th1. However, subsequent complications, including C5 fractures, kyphotic cervical alignment, and rod migration into the occipital bone, lead to multistage surgical interventions. This case highlights the challenges in managing DSA, the significance of optimal fixation strategies, and the importance of accounting for potential alignment changes.
CONCLUSION
The effective management of occipital bone erosion after posterior cervical spine surgery for destructive spondyloarthropathy necessitates meticulous fixation planning, proactive rod length adjustment, preoperative assessment of the occipital position, and consideration of the compensatory upper cervical range of motion to prevent migration-related issues.
Topics: Female; Humans; Middle Aged; Cervical Vertebrae; Fractures, Bone; Occipital Bone; Renal Dialysis; Spinal Fusion; Spondylarthropathies
PubMed: 38363929
DOI: 10.1097/MD.0000000000037143 -
Pediatric extra-axial glioblastoma with bone invasion leading to a subcutaneous mass: A case report.Surgical Neurology International 2024Pediatric glioblastoma multiforme (p-GBM) is an exceptionally rare and aggressive brain tumor, with even fewer reported cases with radiographic and intraoperative...
BACKGROUND
Pediatric glioblastoma multiforme (p-GBM) is an exceptionally rare and aggressive brain tumor, with even fewer reported cases with radiographic and intraoperative characteristics that mimic those of extra-axial lesions, often posing a diagnostic challenge. Despite advancements in imaging technologies, the diagnosis of GBM can still be intricate, relying primarily on histopathological confirmation.
CASE DESCRIPTION
We present a unique case of a 15-year-old female who presented to our hospital with a new-onset focal-to-bilateral tonic-clonic seizure described as clonic movements of her left hemicorps; on clinical examination, a subcutaneous mass was evident in the right parietal region. Magnetic resonance imaging of the brain revealed a sizable extra-axial enhancing mass measuring 9 cm, located in the right parieto-occipital region with notable bone invasion. Moreover, the intraoperative findings revealed an extra-axial mass attached to the dura. Total resection was achieved. The histopathological analysis confirmed the diagnosis of glioblastoma multiforme. Subsequently, the patient underwent adjuvant radiotherapy in conjunction with temozolomide chemotherapy. Postoperatively, she exhibited clinical improvement and remained stable throughout the 6-month follow-up period.
CONCLUSION
We present the first case of extra-axial p-GBM in a young patient, which remarkably led to the destruction of the bone and finally resulted in a sizable parietal subcutaneous lesion in the absence of prior surgery or radiation.
PubMed: 38344102
DOI: 10.25259/SNI_809_2023 -
Surgical Neurology International 2024Chiari (type I) malformations are typically congenital. Occasionally, however, tonsillar herniation can arise secondary to cerebrospinal fluid leakage, posterior fossa...
BACKGROUND
Chiari (type I) malformations are typically congenital. Occasionally, however, tonsillar herniation can arise secondary to cerebrospinal fluid leakage, posterior fossa or intraventricular mass lesions, or other etiologies. We present the first-ever case of an intramedullary subependymoma at the cervicomedullary junction associated with vertebral bone abnormalities and an acquired secondary Chiari malformation.
CASE DESCRIPTION
A 60-year-old woman presented with a 3-year history of occipital, tussive headaches. Preoperative imaging was negative for mass lesions but demonstrated a Chiari malformation. She was recommended posterior fossa decompression with tonsillar shrinkage. During surgery, an intramedullary mass was incidentally observed, obstructing the obex at the cervicomedullary junction. Histopathological analysis of the resected lesion revealed a diagnosis of subependymoma.
CONCLUSION
Subependymomas can sometimes present a diagnostic challenge due to their subtle appearance in neuroimaging. Only rarely are such masses associated with an acquired Chiari malformation. No such case has previously been reported. We present a literature review on acquired Chiari malformations and discuss their management.
PubMed: 38344093
DOI: 10.25259/SNI_683_2023 -
Cureus Jan 2024Background and objective The occipital spur (OS) can be described as an abnormal elongation of the external occipital protuberance (EOP); its etiology is...
Background and objective The occipital spur (OS) can be described as an abnormal elongation of the external occipital protuberance (EOP); its etiology is multifactorial and may involve biomechanical, immunological, and/or genetic factors. This study aimed to determine the frequency and characteristics of elongated EOP or OS as well as the relationship of OS with occlusion in a group of Turkish dental patients. Materials and methods Lateral cephalometric radiographs of 1925 patients taken in 2022 were retrospectively analyzed. The frequency, types, and dimensions of OS were determined based on gender and age groups. Molar occlusion and incisal bite were also evaluated. Results Of the 1925 patients, 679 were males and 1246 were females. The mean age of the cohort was 18.17 ±5.03 years (range: 4-61). OS was detected in 483 (25.1%) patients and was more common in males (p<0.001); 133 (27.5%) of the OSs were flat, 247 (51.1%) crest, and 103 (21.3%) spin type. The incidence of OS increased depending on age groups (p<0.001). There was no statistically significant association between OS presence and molar occlusion (p>0.05). However, a statistically significant association was observed between anterior incisal bite (p=0.001) and OS presence. There was a statistically significant difference in terms of OS sizes in males and females; the sizes of OS were larger in males than in females (length: p<0.05, base and thickness: p<0.001). Conclusions The frequency of OS was quite high in our cohort; it was more common and of larger size in males and older age groups. The most common type was the crest type. While there was no statistically significant association between OS frequency and molar occlusion, there was a significant relationship with incisal bite. The frequency of OS was highest in people with anterior crossbite.
PubMed: 38327918
DOI: 10.7759/cureus.51827 -
Journal of Stomatology, Oral and... Feb 2024To investigate the relationship between upper airway dimension and craniocervical posture in adult patients with bilateral anterior disc displacement and to provide some...
OBJECTIVE
To investigate the relationship between upper airway dimension and craniocervical posture in adult patients with bilateral anterior disc displacement and to provide some references for clinical diagnosis and plan formulation in orthodontics.
METHODS
Based on RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorder), 98 Patients were divided into three groups by two experienced TMJ (Temporomandibular Joint) specialists: bilateral disc normal position group (BN), bilateral anterior disc displacement with reduction group (ADDWR) and bilateral anterior disc displacement without reduction group (ADDWoR). Inter-group comparison and correlation analysis were performed after 11 craniocervical posture and 15 upper airway dimension measurements finished with Dolphin and Uceph software in Two or Three-dimensional.
RESULTS
Anterior disc displacement often accompanied with extension of craniocervical posture, as ADDWR and ADDWoR groups have significantly higher cervical curvature and inclination than BN group (P < 0.05). Simultaneously anterior disc displacement often associated with constrained upper airway dimension for the total and each segment upper airway volume were significantly smaller in ADDWR and ADDWoR than BN group (P < 0.05). Correlation analysis revealed that C0-C1 (the distance from the base of the occipital bone (C0) to the posterior arch of the atlas (C1)) is significantly related to the total and each segment upper airway volume reduction (P < 0.05).
CONCLUSION
There exists markedly close correlation between anterior disc displacement and craniocervical posture forward extension, which may be physiologically adaptive cervical extension to keep oropharyngeal airway unobstructed as upper airway dimension constrained by anterior disc displacement.
CLINICAL RELEVANCE
These findings allow us to infer the potential consequences if the treatment of anterior disc displacement would result in an improvement of intervertebral relationships and upper airway constraint.
PubMed: 38316212
DOI: 10.1016/j.jormas.2024.101785