Effect of Osteopathic Manipulation in an Autism Spectrum Child With Speech Impairment and Attention Deficit: A Case Report.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in communication, social interaction, and repetitive behaviors. Children with ASD often experience comorbidities such as speech impairment and attention deficit, which can significantly impact their quality of life and ability to engage in daily activities. This case report aims to investigate the potential benefits of osteopathic manipulation in addressing speech impairment and attention deficit in a child diagnosed with ASD. A four-year-old male child diagnosed with ASD, presenting with speech impairment and attention deficit, received a series of osteopathic manipulation sessions over a period of 12 weeks. The treatment protocol was tailored to address musculoskeletal dysfunctions, cranial restrictions, somatic dysfunctions, and digestive system dysfunctions identified through osteopathic assessment. Following the osteopathic manipulation sessions, improvements were observed in the child's speech fluency and attention span. The child demonstrated increased engagement in communication activities and showed enhanced focus during therapy sessions. Additionally, improvements were noted in the child's overall behavior and social interaction skills. This case report suggests that osteopathic manipulation may be a beneficial adjunctive therapy for children with ASD experiencing speech impairment and attention deficit. Further research with larger sample sizes and controlled study designs is warranted to validate these findings and elucidate the mechanisms underlying the observed improvements. Osteopathic manipulation holds promise as a non-invasive, holistic approach to addressing various aspects of ASD, contributing to the multidisciplinary management of this complex condition.

Optimization of the clinical diagnostic examination algorithm of patients with a cross bite complicated by cranio-mandibular dysfunction and postural disorder.

OBJECTIVE: Aim: Optimization of the clinical and diagnostic examination algorithm of patients with cross bite, aggravated by cranio-mandibular dysfunction and postural disorders. PATIENTS AND METHODS: Materials and Methods: 22 patients aged 13-16 years with cross bite with displacement of the lower jaw were examined. The first group consisted of 15 people with a right-sided displacement of the lower jaw, the second - 7 patients with a left-sided one. The condition of the musculoskeletal system was assessed by the position of the head, shoulders, shoulder blades, back (curvature of the spine), legs, chest shape, and abdomen. To determine the state of stability of the body in space, posturological and kinesiological tests were performed. The location of TMJ elements was evaluated on orthopantomograms. Statistical processing of the material was carried out with the help of the "Excel" license package. RESULTS: Results: 63.64% of patients with a cross bite have disorders of the musculoskeletal system: scoliotic posture - 40.91% and scoliosis - 22.73%. TMJ dysfunction was detected in all examined patients. It was established that the anatomical and topographic features of the joint elements depend on the side of the lower jaw displacement. CONCLUSION: Conclusions: The functional imbalance of all structural elements of the musculoskeletal system and the cranio-mandibular complex determined during the research proved the need to optimize the clinical-diagnostic algorithm: consultation of a traumatologist-orthopedic doctor, X-ray examination of TMJ, conducting posturological tests.

360° around the orbit: key surgical anatomy of the microsurgical and endoscopic cranio-orbital and orbitocranial approaches.

OBJECTIVE: Several pathologies either invade or arise within the orbit. These include meningiomas, schwannomas, and cavernous hemangiomas among others. Although several studies describing various approaches to the orbit are available, no study describes all cranio-orbital and orbitocranial approaches with clear, surgically oriented anatomical descriptions. As such, this study aimed to provide a comprehensive guide to the microsurgical and endoscopic approaches to and through the orbit. METHODS: Six formalin-fixed, latex-injected cadaveric head specimens were dissected in the surgical anatomy laboratory at the authors' institution. In each specimen, the following approaches were modularly performed: endoscopic transorbital approaches (ETOAs), including a lateral transorbital approach and a superior eyelid crease approach; endoscopic endonasal approaches (EEAs), including those to the medial orbit and optic canal; and transcranial approaches, including a supraorbital approach, a fronto-orbital approach, and a 3-piece orbito-zygomatic approach. Each pertinent step was 3D photograph-documented with macroscopic and endoscopic techniques as previously described. RESULTS: Endoscopic endonasal approaches to the orbit afforded excellent access to the medial orbit and medial optic canal. Regarding ETOAs, the lateral transorbital approach afforded excellent access to the floor of the middle fossa and, once the lateral orbital rim was removed, the cavernous sinus could be dissected and the petrous apex drilled. The superior eyelid approach provides excellent access to the anterior cranial fossa just superior to the orbit, as well as the dura of the lesser wing of the sphenoid. Craniotomy-based approaches provided excellent access to the anterior and middle cranial fossa and the cavernous sinus, except the supraorbital approach had limited access to the middle fossa. CONCLUSIONS: This study outlines the essential surgical steps for major cranio-orbital and orbitocranial approaches. Endoscopic endonasal approaches offer direct medial access, potentially providing bilateral exposure to optic canals. ETOAs serve as both orbital access and as a corridor to surrounding regions. Cranio-orbital approaches follow a lateral-to-medial, superior-to-inferior trajectory, progressively allowing removal of protective bony structures for proportional orbit access.

Primary Extranodal Diffuse Large B-cell Lymphoma Presenting in the Lips: A Case Report and Literature Review.

Approximately 30-40% of malignant lymphomas are classified as diffuse large B-cell lymphoma (DLBCL), with 30% of DLBCL cases manifesting as extranodal lymphomas. Among these extranodal DLBCLs, primary DLBCL in oral lesions, particularly in the lips, is rare. While the treatment methods, chemotherapy assessment, and prognosis for nodal and extranodal DLBCLs are generally similar, diagnostic challenges can lead to delayed therapeutic intervention. We herein present a recent case of primary extranodal DLBCL in the lips that was swiftly diagnosed and managed using rituximab-containing chemotherapies. Our experience underscores the important role that hematologists play in identifying the possibility of oral hematological tumors, thereby allowing for a rapid diagnosis and timely intervention.

Differences in musculoskeletal dysfunctions and in postural alterations between chronic migraine and chronic tension type headache: A cross-sectional study.

OBJECTIVE: The aim of present study is to assess postural alterations and musculoskeletal dysfunctions over all spine in patients with chronic migraine and chronic tension type headache, moreover to highlight the differences between these two forms of primary headache. METHODS: A Cross sectional study was adopted to evaluate the musculoskeletal profile in patients with chronic migraine and with chronic tension type headache. The Bio photogrammetric evaluation was performed using the postural assessment software PAS/SAPO, while unilateral passive accessory intervertebral motion (PAIMs) were applied for manual examinations of spine segments from C0 to L5 vertebra. The One-way Analysis of Variance (ANOVA) test was used to compare the three groups with the software GraphPad InStat 3.06. RESULTS: A total of 60 patients were recruited, 20 for chronic tension type group, 20 for chronic migraine group and 20 healthy controls. The most interesting findings was that patients with chronic primary headaches presented postural alterations in all parameters (cranio-vertebral angle and lumbar-pelvic angle) and musculoskeletal dysfunctions in all spine with respect to healthy controls. Finally, the most clinically relevant finding was that no differences were found between chronic migraine and chronic tension type headache concerning the postural alterations nor the musculoskeletal dysfunctions. CONCLUSION: The sensitization acts as a substrate or consequence of these musculoskeletal dysfunctions in chronic primary headache. Therefore, non-pharmacological treatments targeted in the musculoskeletal system may be a good option in the management of chronic primary headache, especially when these therapies integrate various techniques that involve all spine.

One-Piece versus Two-Piece Fronto-Temporo-Orbito-Zygomatic Craniotomy: A Narrative Overview of Evolution.

The fronto-temporo-orbito-zygomatic (FTOZ) craniotomy is a commonly utilized surgical approach for many complex skull base lesions, especially lesions traversing skull base compartments. This craniotomy has evolved over multiple stages, originating from the classic pterional craniotomy and has undergone many variations over time. The FTOZ craniotomy provides access to the orbit as well as to multiple compartments in the cranium (anterior, middle and upper third posterior cranial fossae). The one-piece and two-piece fronto-temporo-orbito-zygomatic craniotomies are two particularly notable variations that have stood the test of time. Selection between the two variations is mostly surgeon preference and comfort with the technique; however, there are few clinical and anatomic studies that have both shaped these craniotomies as well as provided immense information about instances in which they are most useful. The authors review the origin and history of the one-piece and two-piece fronto-temporo-orbito-zygomatic craniotomy and deliberate their advantages and disadvantages. Additionally, a pictorial review has been crafted to clearly illustrate the osteotomies to be made in the FTOZ craniotomy.

Titanium mesh cranioplasty for cosmetically disfiguring cranio-facial tumours in a resource limited setting.

Background: The aesthetic reconstruction of disfiguring cranio-facial defects after tumour excision can be quite challenging to the neurosurgeon with limited resources. The choice of cranioplasty implant, intraoperative technicalities and the patients' postoperative appearance are critical considerations in management. There are a number of synthetic materials available for cranioplasty, however, the customised implants are not readily available in our practice setup. They are also mostly constructed and contoured after the bony defect has been created or require sophisticated software construction pre-operatively. Methods: Eight patients with cranio-facial tumour pathologies who presented to our neurosurgical service, and had titanium mesh cranioplasty for the correction of cosmetically disfiguring cranio-facial tumours. Results: There were 6 females, and 2 male patients respectively, with an age range between 28 and 74years. The histological diagnoses were meningioma, frontal squamous cell carcinoma, fibrous dysplasia, frontal mucocoele, cemeto-ossifying fibroma, osteoma, and naso-ethmoidal squamous cell carcinoma. The patient with naso-ethmoidal squamous cell carcinoma had post-operative subgaleal empyema which was amenable to incision and drainage procedure. The patient with a frontal cemento-ossifyng fibroma had a transient immediate post-operative mechanical ptosis, which resolved completely in 3months. All of the total eight patients (100%) had satisfactory cosmetic outlook at a minimum follow up period of 1month post-operatively (Numeric Rating Scale of at least 7/10). One of the patients required a revision surgery on account of implant displacement. Conclusion: Cranioplasty is a common reconstructive neurosurgical procedure. It is important to the neurosurgeon for its neuro-protective function, and in the restoration of intra-cranial CSF dynamics. However, the cosmetic outlook appears to be more important to patients in the absence of pain and/or neurological deficits. Titanium mesh reconstruction is commonly used globally, and is becoming the preferred choice in low resource settings.

A case of percutaneous deep pelvic abscess drainage using CT fluoroscopic guided cranio-caudal puncture technique.

A 52-year-old male patient presented with complaints of abdominal and back pain. CT revealed a deep pelvic abscess extending into the anterior sacral space. Since puncture via the conventional transgluteal approach cannot reach a deep abscess, percutaneous pelvic abscess drainage was performed under CT fluoroscopy using the cranio-caudal puncture technique. The cranio-caudal puncture requires needle insertion perpendicular to the CT cross-section. This method advances the CT gantry deeper than the needle tip and follows the CT cross-section with the needle tip. This series of images and movements continues until the needle reaches the target. The procedure was successful without complications, the abscess was reduced in size, and blood test data improved. The cranio-caudal puncture technique provides an alternative for the drainage of deep pelvic abscesses that avoids the complications associated with gluteal muscle puncture. Percutaneous drainage of pelvic abscesses under CT fluoroscopy-guided cranio-caudal puncture offers a safe option as a puncture route for deep pelvic abscesses.

Comprehensive and integrated management of basilar impression, platybasia and cranio-vertebral junction abnormality- a case report.

AIM: To report a case of anomalous development of base of skull (platybasia, Basilar invagination and C1-C2 vertebral fusion); and emphasize nonsurgical management in inoperable cases that can improve quality of life of the patient. MATERIALS AND METHODS: The case is reported as a descriptive study of a 17-year-old female who presented to a rural teaching tertiary care hospital in Wardha, Maharashtra, India; with chief complaints of weakness in all four limbs since 10 years of age. RESULT AND CONCLUSION: Platybasia is a developmental defect of the occipital bone and upper cervical spine resulting from anomalous development. The mechanism of such anomalies is not known; however, the most accepted theory includes abnormal basi-occiput development. The pressure effects may present signs similar to progressive spastic paralysis, cerebellar symptoms, or cranial nerve palsy, in addition to musculoskeletal symptoms. It is, therefore, crucial for physicians and radiologists to be familiar with clinical manifestations and radiological findings. In the following case of a patient with base of skull anomalies, surgical intervention in view of progressive worsening of motor symptoms was advised, however, the guardians declined the same due to high risk involved. Due to financial constraints, genetic studies were unaffordable, and a lack of awareness regarding the disease hampered the guardians from making a decision on the definite management of the disease. Besides radical neurosurgery, intensive physiotherapy can prove vital in significantly improving the quality of life for the patient.

Custom CAD/CAM Peek Implants for Complex Orbitocranial Reconstruction: Our Experience with 15 Patients.

Bone defects within the cranio-orbital complex present unique challenges in terms of surgical planning and reconstruction. This article presents a novel approach using PEEK material and advanced surgical technologies to address these challenges. A retrospective analysis of 15 patients who underwent craniofacial reconstruction using patient-specific polyetheretherketone (PEEK) implants between 2016 and 2021 was carried out. Comprehensive preoperative planning was performed, utilizing advanced imaging techniques and specialized software for virtual surgical planning. Patient-specific PEEK PSIs were designed and manufactured based on the preoperative plan. Intraoperative navigation was used to guide the surgical procedure, enabling precise osteotomy and optimal implant placement. This article describes the step-by-step process and the tools utilized in each phase. The etiologies were as follows: meningioma in seven cases, benign lesions in five cases, malignant tumors in two cases, and trauma sequelae in one case. In all cases, 3D-printed PEEK implants were utilized to achieve precise reconstruction. No major complications were described. In one case, an implant replacement was needed with successful outcomes. Our study demonstrates the feasibility and effectiveness of using PEEK patient-specific implants for personalized craniofacial reconstruction. The combination of advanced imaging, virtual planning, and CAD-CAM technology contributes to improved surgical outcomes in terms of oncologic margin control, functional restoration, and aesthetic results.

Cranio-Facial Characteristics in Autism Spectrum Disorder: A Scoping Review.

Autism spectrum disorders (ASD) consist of a complex group of neurodevelopmental disorders characterised by qualitative impairments of social interactions, communication abilities, and a limited, stereotyped, and repetitive selection of interests and activities. In light of the imperative to identify a possible biomarker for ASD, it has been determined that craniofacial anomalies serve as significant risk factors for neurodevelopmental disorders. The aim of this scoping review is to deepen the knowledge of the scientific literature related to cranio-facial characteristics in individuals with ASD, with a particular focus on recent research advancements. The review was performed by employing the search strings (("Autism Spectrum Disorder" OR autism OR ASD OR "Autism Spectrum") AND ("facial morphology" OR "facial phenotype")) on the databases PubMed/MEDLINE, Scopus, and ERIC as of March 9, 2023. The review comprised seven studies whose findings were obtained through quantitative analysis of Euclidean distances between anatomical landmarks. The examination of facial abnormalities represents a possible reliable diagnostic biomarker that could aid in the timely identification of ASD. Phenotypic characteristics that may serve as predictive indicators of the severity of autistic symptoms can be observed in certain individuals with ASD by applying anthropometric and instrumental measurements. The presence of a phenotype characterised by an increased intercanthal distance and a reduced facial midline height appears to be associated with a higher degree of severity in autistic symptoms. In addition, it is worth noting that facial asymmetry and facial masculinity can be considered reliable indicators for predicting a more severe manifestation of symptoms.

A novel classification for guiding the surgical approach for cranio-orbital lesions: a single institution case series of 45 cases and a literature review.

We aim to share our experience of the removal of cranio-orbital lesions (COLs) and propose a novel classification to guide the tailored approach selection. We retrospectively reviewed 45 consecutive patients with COLs who underwent surgery performed by the same neurosurgeon between November 2010 and November 2022. The surgical approach was selected according to the anatomical region classification of the COLs. For lesions limited to space A (lateral superior orbital fissure, SOF), the pterion or extended pterion approach (PA or EPA) was used. For lesions limited to space B (extraconal compartment medial SOF, and cavernous sinus CS) and C (intraconal compartment, medial SOF, and CS), the pretemporal transcavernous approach (PTCA) was used. For lesions limited to space D (intraconal compartment and optic canals), the subfrontal approach (SA) was used. For lesions extending into the infratemporal fossa (ITF), the cranio-orbito-zygomatic approach (COZA) was used. For lesions involving pterygopalatine fossa (PPF), the endoscopic transnasal approach (ETNA) was used. We analyzed the clinical manifestations, imaging data, surgical approaches, surgical outcomes, neurological outcomes, and follow-up data. Gross total resection was performed in 35 patients (35/45, 77.8%). SA, PA, EPA, PTCA, COZA, and ETNA were performed in 9, 9, 10, 10, 6, and 1 case(s), respectively. Progression of the residual tumor was observed in 6 cases (1 adenoid cystic carcinoma and 5 meningiomas). Surgical approach selection plays a vital role in patient prognosis. This novel classification based on the involvement of anatomic space could help surgeons select an appropriate approach to remove the COLs.

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.

Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the SEC23A gene. Autosomal recessive inheritance (AR-CLSD) has been extensively documented in several cases with homozygous or compound heterozygous variants in SEC23A, whereas autosomal dominant inheritance (AD-CLSD) involving heterozygous inherited variants has been reported just in three patients. The SEC23A gene encodes for one of the main components of a protein coat complex known as coat-protein-complex II (COPII), responsible for the generation of the envelope of the vesicles exported from the endoplasmic reticulum (ER) toward the Golgi complex (GC). AR-CLSD and AD-CLSD exhibit common features, although each form also presents distinctive and peculiar characteristics. Herein, we describe a rare case of a 10-year-old boy with a history of an anterior fontanel that closed only at the age of 9. The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global developmental delay, abnormal coordination, dystonia, and motor tics, along with dysmorphisms such as a wide anterior fontanel, hypertelorism, frontal bossing, broad nose, high-arched palate, and micrognathia. Trio clinical exome was performed, and a de novo heterozygous missense variant in SEC23A (p.Arg716Cys) was identified. This is the first reported case of CLSD caused by a de novo heterozygous missense variant in SEC23A presenting specific neurological manifestations never described before. For the first time, we have conducted a comprehensive phenotype-genotype correlation using data from our patient and the eight most well-documented cases in the literature. Our work has allowed us to identify the main specific and characteristic signs of both forms of CLSD (AR-CLSD, AD CLSD), offering valuable insights that can guide physicians in the diagnostic process. Notably, detailed descriptions of neurological features such as intellectual disability, global developmental delay, and motor impairment have not been documented before. Furthermore, our literature overview is crucial in the current landscape of CLSD due to the absence of guidelines for the clinical diagnosis and proper follow-up of these patients, especially during childhood.

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.

INTRODUCTION: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes. OBJECTIVE: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. METHODS: Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10-37 years; 32 females) and 40 healthy controls (age 10-32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri-Kansas City (UMKC). RESULTS: OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P = .001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z-score (P = .01), presence of DI (P = .04) and being male (P = .04) were strong predictors of platybasia, whereas height z-score (P = .049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement. CONCLUSION: The severity of the phenotype in OI, as expressed by the height z-score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate-to-severe OI. Screening for cranial base anomalies is advisable in individuals with moderate-to-severe OI, with special regards to the individuals with a shorter stature and DI.

Craniofacial Fibrous Dysplasia in Fronto-Orbital Region: A Single-Center Retrospective Study of 38 Cases.

OBJECTIVE: This study presents the clinical characteristics, imaging manifestations, and surgical experience in 38 patients diagnosed with craniofacial fibrous dysplasia in fronto-orbital region (foFD). METHODS: We retrospectively analyzed the clinical data from 38 patients who had surgery for foFD. The surgical procedure typically involved extensive tumor removal, followed by immediate reconstruction of the frontal bone and orbit using synthetic materials. Additionally, 9 patients underwent simultaneous microscopic decompression of the optic canal. RESULTS: Common clinical manifestations included progressive fronto-orbital bone deformity (35), proptosis (28), orbital dystopia (21), and visual impairment (9). The disease primarily affecting the frontal bone (38), the sphenoid bone (28), and the ethmoid bone (24). The optic canal was involved in 9 patients with functional impairment. Computed tomography scans in all 38 cases revealed satisfactory repair material positioning and complete resolution of frontal deformities. Among the 9 patients who underwent optic canal decompression, 7 experienced partial recovery of visual acuity after surgery. CONCLUSIONS: In the surgical treatment of foFD, it is crucial to achieve maximal bone resection and repair skull defects, while decompressing the optic canal can provide significant benefits for patients with decreased visual function preoperatively. The use of preformed artificial materials offers advantages in aesthetic restoration after lesion excision.

Neuro-cranio-vertebral syndrome related to coccygeal dislocation: A preliminary study.

Background: Neuro-cranio-vertebral syndrome (NCVS) includes a set of idiopathic diseases: Arnold-Chiari syndrome type 0,1 and 1.5, idiopathic scoliosis, and idiopathic syringomyelia. It is caused by the pathological traction transmitted by the filum terminale on the neuraxis. Considering that the filum terminale is inserted at sacrococcygeal level, it is logical to think that an alteration of this segment's anatomy, such as an anterior coccyx dislocation, can increase the tension exerted by the filum terminale on the neuraxis, which in turn triggers NCVS. Methods: We collected data from 372 patients with NCVS and 15 patients with coccygeal dislocation and NCVS from our database. We analyzed the relationship between the sacrococcygeal and intercoccygeal angles with signs, symptoms and associated diagnoses. T-tests for independent samples and linear regression were used for analysis (p <0.05). We describe the MRI findings and clinical features of NCVS caused by coccygeal dislocation and compare its prevalence with that of a sample without coccygeal dislocation. Results: 65% of the signs, symptoms, and imaging features were present in similar proportions in both samples. There was a similar prevalence of cerebellar tonsillar descent and scoliosis in both groups, whereas the incidence of syringomyelia differed. A sacrococcygeal angle between 89-110° prevails in cases of syringomyelia while an intercoccygeal angle between 90-140° prevails in cases with cerebellar tonsillar descent. Conclusions: The high clinical and radiological prevalence of coccygeal dislocation in patients with Neuro-cranio-vertebral syndrome suggests an association between them. The mechanism involved in coccygeal dislocation can directly influence the development of Neuro-cranio-vertebral syndrome.

[Quantitative analysis of orbit volume and eyeball position after resection of hyperostotic sphenoid wing meningioma and simultaneous orbital wall reconstruction using individual technologies]. / Kolichestvennyi analiz ob"emov glaznits i pozitsii glaznykh yablok posle udaleniya giperostoticheskikh meningiom kryl'ev osnovnoi kosti i odnomomentnoi rekonstruktsii stenok glaznitsy s ispol'zovaniem individual'nykh tekhnologii.

OBJECTIVE: To conduct a quantitative analysis of orbit volume at different stages of preparation and surgical treatment of patients with cranio-orbital meningiomas undergoing resection with simultaneous orbital wall reconstruction using 3D modeling and 3D printing technologies. MATERIAL AND METHODS: A prospective cohort non-randomized study included 24 patients with cranio-orbital meningiomas. The volumes were measured by segmenting the orbital structures using the planimetric method in the Inobitec PRO software package. Three expert neurosurgeons independently performed these measurements. The implants were modeled in Blender software. We used the intraclass correlation coefficient (ICC) and global similarity index (GSI) to analyze interrater agreement and ensure reproducibility of analysis. RESULTS: Interrater agreement on orbital markings was very high for both metrics (ICC and GSI). The ICC (A,3) for intact orbit volume was 0.99 (95% CI 0.981; 0.996, p=1.9962018^{-33}), 0.99 (95% CI 0.983; 0.996, p=1.903203^{-34}) for damaged orbit volume at the preoperative stage, 0.99 (95% CI 0.979; 0.995, p=3.5939828^{-32}) for damaged orbit volume at the stage of modeling of resection and reconstruction, 0.99 (95% CI 0.978; 0.995, p=1.1048941^{-30}) for damaged orbit volume in postoperative period. The ICC for measurements related to EI was 0.94-0.97 (very high). This analysis revealed a strong inverse relationship between EI and volume index at the preoperative stage (rho= -0.55, p=0.004987), as well as between dynamics of EI and volume indexes in perioperative period (rho= -0.59, p=0.003). We found significant relationship (p=0.006757) between implant displacement in the area of lateral orbital wall and differences of actual and theoretical volumes. CONCLUSION: The proposed method of planimetric contouring and segmentation of orbital volumes is highly accurate and reproducible. Significant patterns allow us to develop predictive models for preliminary calculation of target volume of the damaged orbit.

Human genetics and molecular genomics of Chiari malformation type 1.

Chiari malformation type 1 (CM1) is the most common structural brain disorder involving the craniocervical junction, characterized by caudal displacement of the cerebellar tonsils below the foramen magnum into the spinal canal. Despite the heterogeneity of CM1, its poorly understood patho-etiology has led to a 'one-size-fits-all' surgical approach, with predictably high rates of morbidity and treatment failure. In this review we present multiplex CM1 families, associated Mendelian syndromes, and candidate genes from recent whole exome sequencing (WES) and other genetic studies that suggest a significant genetic contribution from inherited and de novo germline variants impacting transcription regulation, craniovertebral osteogenesis, and embryonic developmental signaling. We suggest that more extensive WES may identify clinically relevant, genetically defined CM1 subtypes distinguished by unique neuroradiographic and neurophysiological endophenotypes.

Interplay between carotid artery dissection and thrombophilia leading to ischaemic stroke after minor head trauma in an adolescent: a case report.

Stroke in children is more common than is often realised; there are numerous potential causes, including carotid artery injury resulting from minor head or neck trauma, as well as genetic conditions associated with thrombophilia. A 13-year-old boy suffered an arterial ischaemic stroke (AIS) secondary to dissection of the left internal carotid artery (ICA) after he headed the ball during a game of football. He presented with generalised tonic-clonic seizure, loss of consciousness, right-sided hemiplegia and aphasia. Neuroradiological imaging showed left caudate, putaminal and posterior insular ischaemic infarct secondary to complete occlusion of the left ICA and accompanying partial left middle cerebral artery occlusion. He was treated with anticoagulant and anti-aggregant agents. Rarely, minor head trauma can result in internal carotid artery dissection, thrombus formation and arterial occlusion, leading to arterial ischaemic stroke. Prompt diagnosis and management are crucial to achieve a good neurological outcome.Abbreviations: AIS: arterial ischaemic stroke; ANA: anti-nuclear antibody; APA: anti-phospholipid antibody; APTT: activated partial thromboplastin time; CAD: carotid artery dissection; CCAD: cranio-cervical artery dissection; CRP: C-reactive protein; CT: computed tomography; CTA: computed tomography angiography; dsDNA: double-stranded DNA; ESR: erythrocyte sedimentation rate; ICA: internal carotid artery; LA: lupus anticoagulant; MCA: middle cerebral artery; MRA: magnetic resonance angiography; MRI: magnetic resonance imaging; MTHFR: methylenetetrahydrofolate reductase; PT INR: prothrombin time international normalised ratio.

Vertebral Artery Dissection: A Case Report and Review of the Literature.

Arterial dissection is the result of blood entering along the intima-media plane through a breach produced either spontaneously or traumatically. Cervical arterial dissections are an important cause of acute ischemic stroke in children, young adults, and patients with cranio-cervical traumatic injuries. Arterial dissections occur either spontaneously, in genetic diseases, the most important association being with fibromuscular dysplasia. In most of the cases dissection involve the extracranial portions of the internal carotid and vertebral arteries. Magnetic resonance with T1 fat-saturation (T1 FS) sequence of the cervical region or computed tomography (CT) with computed tomography angiography (CTA) shows a very high sensitivity and specificity in the diagnosis of cervical artery dissections. Therapeutic options are still debatable in patients with acute ischemic stroke and vertebral or carotid artery dissection.