Distinct Radiographic Features Research Articles

Radiographic Imaging for the Diagnosis and Treatment of Patients with Skeletal Class III Malocclusion.

Skeletal Class III malocclusion is one type of dentofacial deformity that significantly affects patients' facial aesthetics and oral health. The orthodontic treatment of skeletal Class III malocclusion presents challenges due to uncertainties surrounding mandibular growth patterns and treatment outcomes. In recent years, disease-specific radiographic features have garnered interest from researchers in various fields including orthodontics, for their exceptional performance in enhancing diagnostic precision and treatment effect predictability. The aim of this narrative review is to provide an overview of the valuable radiographic features in the diagnosis and management of skeletal Class III malocclusion. Based on the existing literature, a series of analyses on lateral cephalograms have been concluded to identify the significant variables related to facial type classification, growth prediction, and decision-making for tooth extractions and orthognathic surgery in patients with skeletal Class III malocclusion. Furthermore, we summarize the parameters regarding the inter-maxillary relationship, as well as different anatomical structures including the maxilla, mandible, craniofacial base, and soft tissues from conventional and machine learning statistical models. Several distinct radiographic features for Class III malocclusion have also been preliminarily observed using cone beam computed tomography (CBCT) and magnetic resonance imaging (MRI).

Phalangeal microgeodic syndrome: a paediatric case series.

We present the clinical and radiological characteristics of phalangeal microgeodic syndrome in a cluster of five children during the second peak of COVID-19 pandemic in the UK. Each child presented with phalangeal swelling and erythema, prompting a comprehensive multi-disciplinary team review to analyse the clinical presentation, blood test results and imaging. The cohort's average age was 14.1years, ranging from 10.4 to 16.6years, with two girls and three boys. Four children experienced phalangeal involvement in the hands, whilst one was affected solely in the feet. A rheumatological work-up was performed for all. Hand X-rays performed on three children revealed distinct radiographic features like microgeodes, subperiosteal bone resorption and rarefaction in two cases. However, further MRI showed extensive changes closely correlated with the clinical signs of cutaneous vasculopathic rashes. The MRI abnormalities were notable, encompassing marrow oedema primarily affecting metaphyses and epiphyses, displaying broad transition zones. Soft tissue swelling and cortical erosions were also observed. These MRI features proved more pathognomonic in the acute clinical context. The study concluded that phalangeal microgeodic syndrome, characterised by digital swelling and erythema, might not be adequately assessed by plain X-rays. The more comprehensive MRI features, including marrow oedema and soft tissue abnormalities, appeared to be more indicative in diagnosing the condition. Considering the rarity of this syndrome and its temporal association with the COVID-19 pandemic, the study hypothesised that COVID-related thrombophilia and immune-mediated vasculopathy might act as crucial triggers for the active bony manifestations seen in this syndrome. KEY POINTS: • PMS is a rare, predominantly paediatric condition, of unknown aetiology which affects the digits. • Laboratory investigations are generally negative; however, in the appropriate clinical context, the X-ray findings of microgeodes and pattern of bone marrow oedema seen on MRI are pathognomonic. • Considering the rarity of PMS and temporal association with the COVID-19 pandemic, COVID vasculopathy may represent a previously unrecognised aetiology for PMS.

Capillary telangiectasia

Brain capillary telangiectasia is usually a small collection of dilated capillary-like vessels. In most cases it is aharmless incidental finding with no clinical significance. They are most commonly located in the pons. In terms of image morphology, they show brush-like signal extinction in T2*/SWI (susceptibility-weighted imaging) sequences and contrast enhancement in T1-weighted images. Other sequences are usually unremarkable unless they involve unusually large capillary telangiectasias. Angiographically they usually remain silent. Sometimes they are associated with venous abnormalities and/or cavernomas. Their distinctive radiographic features usually allow for areliable diagnosis. Differential diagnostic considerations, such as differentiation from atumorous or inflammatory process, are sometimes necessary.

A Large Intrathoracic Mass in A Patient With Neurofibromatosis Type 1

Background and Importance: Dural ectasia is circumferential extension or dilatation of the dural sac, it is commonly associated with Neurofibromatosis type 1 (NF1). Because NF1 is associated with a high likelihood of tumor formation, it is critical to distinguish it from other posterior mediastinal cancers such as neurofibroma, neuroblastoma, and ganglioneuroma. Scoliosis is the most frequently observed feature in NF1 patients with spinal deformities. Moreover, there are several distinctive radiographic features, including dural ectasia, defective pedicles, and spondylolisthesis, which are relatively less common in these patients. Surgery may be performed for stabilization of the spine. Case Presentation: The present study reports on a 62-year-old female with neurofibromatosis type 1 who was referred for an unusual chest X-ray and chest Computed Tomography (CT) revealing a thoracic mass while she was hospitalized and under observation for dyspnea. The chest X-ray film showed homogenous opacity with a well-defined margin in the right apex. The chest CT showed an enlarged intervertebral foramen and defected vertebral arch around the mass and scoliosis. Although the pre-operative diagnosis was dumbbell type neurinoma, the tumor was found to be a protrusion of dura mater with spinal fluid out of the spinal canal. Part of the wall was excised, the residual opening was repaired, and surgical stabilization was performed. Conclusion: Retrospectively, magnetic resonance imaging showed the characteristics of thoracic dural ectasia and anterior meningocele, which, in an asymptomatic case, require regular radiographic follow-ups. Surgical intervention is an alternative for patients with spinal deformities or symptomatic patients due to the adverse effects of spinal cord compression and mediastinal structures.

Osteomyelitis, osteoradionecrosis, or medication-related osteonecrosis of the jaws? Can CBCT enhance radiographic diagnosis?

To attempt defining differential radiographic diagnostic characteristics for osteonecrotic lesions using 2D as opposed to 3D images. This was a cross-sectional study. Subjects presenting mandibular osteonecrotic lesions (osteomyelitis, osteoradionecrosis, and medication-related osteonecrosis of the jaws) were selected and compared to a group of age- and gender-matched controls, all having both cone-beam computed tomographic images (CBCT) and panoramic radiographs (PANO). Both imaging modalities (predictor variables) were evaluated by two radiologists that scored lesion presence, eight additional radiological features, and a composite severity index (outcome variables). For each pathologic condition, characteristic features were assessed in PANO and CBCT by the Wilcoxon signed-rank test. Regression tree analysis revealed the predictive value of PANO and CBCT (α=5%). Overall, the predictive value of PANO reached 74%, while for CBCT it became 90%. Regarding the composite severity index, CBCT enabled to detect more subtle lesions. Also, CBCT imaging allowed showing more distinct radiographic diagnostic features as compared to PANO imaging, more specifically when distinguishing osteomyelitis from both other lesions. Cone-beam computed tomography enabled showing more differences in radiological features between distinct osteonecrosis disease entities. CBCT imaging might be a better contributor for the detection of early lesions and to monitor further pathological developments in the mandible.

Corrigendum to: “Multiplatform Molecular Profiling of Vestibular Schwannoma Reveals 2 Subgroups of Tumors With Distinct Radiographic Features and a Methylation-Based Predictor of Local Recurrence” by Breshears et al. Neurosurgery, 2019, nyz310_317, https://doi.org/10.1093/neuros/nyz310_317

Corrigendum to: “Multiplatform Molecular Profiling of Vestibular Schwannoma Reveals 2 Subgroups of Tumors With Distinct Radiographic Features and a Methylation-Based Predictor of Local Recurrence” by Breshears et al. Neurosurgery, 2019, nyz310_317, https://doi.org/10.1093/neuros/nyz310_317

Multiplatform Molecular Profiling of Vestibular Schwannoma Reveals 2 Subgroups of Tumors With Distinct Radiographic Features and a Methylation-Based Predictor of Local Recurrence

Abstract INTRODUCTION Vestibular schwannomas (VS) can cause significant morbidity from cranial neuropathies and mass effect. Broad molecular differences have been described for intracranial versus spinal axis schwannomas, but little is known about the molecular heterogeneity of VS or predictors of recurrence. METHODS A total of 66 sporadic VS from 59 consecutive patients with available tissue who underwent initial resection (44), resection for recurrence after prior surgery (5), resection for recurrence after prior stereotactic radiosurgery (SRS) (11), or resection after both prior surgery and prior SRS (6) at a single institution from 2003 to 2017 were profiled using 850 K DNA methylation arrays (median follow-up: 4.2 yr, median volumetric resection: 91%). A total of 24 VS were further characterized using RNA sequencing. Molecular subtyping was performed using differential-DNA methylation analysis and validated using transcriptomic data. Preoperative magnetic resonance imaging (MRI) studies were centrally reviewed by a board-certified neuro-radiologist. RESULTS NA methylation profiling revealed 2 novel subgroups of VS, delineated by enrichment of neural crest genes (31 tumors) or immune genes (35 tumors). Neural crest-enriched VS were more likely to show reduced diffusion on MRI (P < .01), while immune-enriched VS were more likely to show cystic changes (P < .05), mass effect (P < .01), and edema (P < .05). Immune-enriched VS were significantly more likely to be adherent to the brainstem and left as residual at the time of resection. A total of 15 immune-enriched VS (43%) had prior SRS, while only 2 neural crest-enriched VS (6%) had prior SRS (P < .001). Hypomethylation of G protein-coupled estrogen receptor 1 (GPER) promoter was prognostic for local failure in multivariate regression irrespective of primary treatment modality (P < .0001). CONCLUSION VS are comprised of 2 molecular subgroups characterized by differential enrichment of neural crest or immune genes. VS treated with prior SRS are associated with immune-enrichment. GPER promoter hypomethylation is prognostic for VS recurrence. These data illuminate the biology of VS and shed light on potential molecular therapies.

KNIEST SYNDROME: CASE REPORT AND REVIEW OF LITERATURE

Background Kniest syndrome (dysplasia) is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These abnormalities result from a mutation of the collagen type II gene (COL2A1) resulting in an abnormal type II collagen product. Craniofacial abnormalities seen in this syndrome include prominent eyes, flat nasal bridge, cleft palate, midface anomalies, tracheomalacia, and hearing loss. This report illustrates a case of Kniest syndrome with severe dentoskeletal malformation with cleft palate treated at Eastman Institute for Oral Health. In addition, the report also outlines clinical, histopathological and radiographic findings of the condition with a review of literature of Kniest syndrome. Method Case study of a 16 year old male with a history of Kniest syndrome presented to the Orthodontic clinic seeking treatment for misaligned teeth. The patient showed clinical features of this syndrome which included dwarfism, severe midface hypoplasia, flattened and rounded face with prominent eyes and nasal atresia. Patient had a history of cleft palate repair. Intraoral findings included severe gingival hyperplasia, high arched palate and abnormal dentoalveolar development. Conclusion Kniest syndrome (dysplasia) is a rare chondrodysplasia with differential diagnosis that can include Spondy-loepiphyseal dysplasia, Spondyloepimetaphyseal and Metatropic dwarfism. In addition to genetic testing, distinct radiographic features and histopathological studies are crucial in determining the proper diagnosis of the condition.

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HPP during growth often manifests with distinctive radiographic skeletal features, no validated method was available to quantify them, including changes over time. We created the Radiographic Global Impression of Change (RGI-C) scale to assess changes in the skeletal burden of pediatric HPP. Site-specific pairs of radiographs of newborns, infants, and children with HPP from three clinical studies of asfotase alfa, an enzyme replacement therapy for HPP, were obtained at baseline and during treatment. Each pair was scored by three pediatric radiologists ("raters"), with nine raters across the three studies. Intrarater and interrater agreement was determined by weighted Kappa coefficients. Interrater reliability was assessed using intraclass correlation coefficients (ICCs) and by two-way random effects analysis of variance (ANOVA) and a mixed-model repeated measures ANOVA. Pearson correlation coefficients evaluated relationships of the RGI-C to the Rickets Severity Scale (RSS), Pediatric Outcomes Data Collection Instrument Global Function Parent Normative Score, Childhood Health Assessment Questionnaire Disability Index, 6-Minute Walk Test percent predicted, and Z-score for height in patients aged 6 to 12 years at baseline. Eighty-nine percent (8/9) of raters showed substantial or almost perfect intrarater agreement of sequential RGI-C scores (weighted Kappa coefficients, 0.72 to 0.93) and moderate or substantial interrater agreement (weighted Kappa coefficients, 0.53 to 0.71) in patients aged 0 to 12 years at baseline. Moderate-to-good interrater reliability was observed (ICC, 0.57 to 0.65). RGI-C scores were significantly (p ≤ 0.0065) correlated with the RSS and with measures of global function, disability, endurance, and growth in the patients aged 6 to 12 years at baseline. Thus, the RGI-C is valid and reliable for detecting clinically important changes in skeletal manifestations of severe HPP in newborns, infants, and children, including during asfotase alfa treatment. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.

Identification of the distinguishing features of Crohn's disease and ischemic colitis using computed tomographic enterography.

Background and aims: The differential diagnosis between Crohn’s disease (CD) and ischemic colitis (ISC) is important as their clinical management is different. ISC can easily be misdiagnosed as CD, especially in elderly populations. The distinctive radiographic features of the two disease entities have not been investigated. The aim of this study is to assess the utility of computed tomographic enterography (CTE) in the differential diagnosis between CD and ISC. Methods: Patients with confirmed CD and ISC were identified through an electronic medical record search of the Cleveland Clinic Foundation. Patients who had undergone CTE, with or without concurrent colonoscopy and histopathological specimens, were included in this study. CTE images were blindly re-reviewed by an expert gastrointestinal radiologist. The sensitivities, specificities, accuracies and positive and negative predictive values for each of the CTE findings in differentiating CD from ISC were estimated. Kappa coefficients (κ) were calculated to measure diagnosis agreement between CTE and the reference standard. Results: A total of 34 eligible patients were included in this study with 17 having CD and 17 having ISC. In differentiating CD from ISC, the presence of mucosal hyperenhancement and absence of the “target sign” on CTE showed a sensitivity of 100% each for CD, while the two radiographic features yielded a low specificity of 35.3% and 76.5%, respectively. The presence of stricture had a lower sensitivity of 64.7% for the detection of CD but had a high specificity of 100%. In distinguishing CD from ISC, the accuracy of presence of mucosal hyperenhancement, stricture and absence of target sign were 67.7%, 82.4% and 88.2%, respectively. The combination of the presence of mucosal hyperenhancement and the absence of the target sign achieved an accuracy of 100% for distinguishing CD from ISC. There was a good correlation between CTE and the reference standard for distinguishing CD from ISC (κ = 0.882). Conclusions: CTE appeared to be clinically useful in distinguishing CD from ISC.

Pediatric cervical spine in emergency: radiographic features of normal anatomy, variants and pitfalls.

Injuries of the cervical spine are uncommon in children. The distribution of injuries, when they do occur, differs according to age. Young children aged less than 8years usually have upper cervical injuries because of the anatomic and biomechanical properties of their immature spine, whereas older children, whose biomechanics more closely resemble those of adults, are prone to lower cervical injuries. In all cases, the pediatric cervical spine has distinct radiographic features, making the emergency radiological analysis of it difficult. Such features as hypermobility between C2 and C3, pseudospread of the atlas on the axis, pseudosubluxation, the absence of lordosis, anterior wedging of vertebral bodies, pseudowidening of prevertebral soft tissue and incomplete ossification of synchondrosis can be mistaken for traumatic injuries. The interpretation of a plain radiograph of the pediatric cervical spine following trauma must take into account the age of the child, the location of the injury and the mechanism of trauma. Comprehensive knowledge of the specific anatomy and biomechanics of the childhood spine is essential for the diagnosis of suspected cervical spine injury. With it, the physician can, on one hand, differentiate normal physes or synchondroses from pathological fractures or ligamentous disruptions and, on the other, identify any possible congenital anomalies that may also be mistaken for injury. Thus, in the present work, we discuss normal radiological features of the pediatric cervical spine, variants that may be encountered and pitfalls that must be avoided when interpreting plain radiographs taken in an emergency setting following trauma.

Computed tomography angiography of aorta subjected to external wrapping.

BackgroundExternal wrapping is a surgical technique used in patients with dilated ascending aorta. To date, there is no available data describing the radiographic features of the aorta subjected to external wrapping using a straight corrugated Dacron vascular prosthesis. The aim of this study was to find distinctive radiographic features of an externally constricted aorta.MethodsPreoperative and early postoperative (7th postoperative day) CT angiography images of ten patients who underwent wrapping procedures were assessed and compared. The images were analyzed in order to find characteristic features of CT angiography images of the ascending aorta subjected to external wrapping.ResultsThe CT-angiography images showed that the aortic wall deformed significantly (the wall plicated) after the wrapping procedure in one patient, whose aortic diameter was decreased by 47 %. The remaining nine patients did not have significant aortic wall deformations. All patients presented with a periaortic mass. This was a collection of blood clots and pericardial fluid that filled the empty space in the pericardium following a decrease in the diameter of the ascending aorta. A very thin (<1 mm) crescent-shaped uncontrasted layer was noticed between the aorta and the periaortic area in all patients. This, in turn, was an empty space between the aorta and the corrugated vascular prosthesis.ConclusionsThe CT-angiography images of the aorta subjected to external wrapping may have unique features that are not observed after other operations on the ascending aorta. The knowledge about the details of this surgical procedure helps to correctly assess these images.

Liposclerosing Myxofibrous Tumor: A Review.

Liposclerosing myxofibrous tumor is a benign fibro-osseous lesion, with distinct radiographic and clinical features and diverse histologic patterns. This lesion occurs in the fourth decade of life, with equal male and female incidence. Most lesions are discovered incidentally, but patients can present with bone pain or fracture. Liposclerosing myxofibrous tumor exhibits a very strong predilection for the proximal femur with characteristic radiographic findings, often providing an initial clue to diagnosis. Microscopically, this tumor is characterized by a variety of patterns, including myxofibrous tissue, fibrous dysplasia-like features, and ischemic ossification. It can be mistaken for many other fibro-osseous lesions; therefore, this unique lesion should be included in the differential diagnosis of fibro-osseous lesions, particularly in this location. Patients with this lesion are generally successfully treated by curettage and bone graft and have a favorable prognosis. A small risk of malignant transformation has been suggested to be associated with these lesions. This necessitates the need for follow-up monitoring of this entity. In this review, we discuss current knowledge of this lesion and its clinical relevance.

Nasopharyngeal carcinoma: Imaging features of unusual cancer in children

BackgroundNasopharyngeal carcinoma (NPC) is a disease of elderly population while the benign adenoidal hypertrophy is the most common cause of a mass in the nasopharynx in pediatrics. NPC is rare in this age group, unfortunately, these tumors tend to be locally advanced by the time they are diagnosed. Our objective is to emphasize that, although rare, NPC does occur in children and can be diagnosed reliably when certain key radiographic features are recognized. Material and methodsFrom January 2008 to May 2014, 50 pediatric patients presented to our hospital with pathologically proven NPC. The initial radiological studies (CT of 35 patients and MRI of all 50 patients) are retrospectively assessed regarding the nasopharyngeal masses and cervical lymph nodes. ResultsAll 50 patients had a nasopharyngeal mass. Intracranial extension was detected in 38 cases, 15 of them invaded the central skull base, the other 23 extending along the nerves. The perineural spread along V3 was the commonest in 16 cases followed by V2 in the other 7 cases. Almost all the nasopharyngeal masses showed restricted diffusion with average ADC: 0.7×10−3mm2/sec. Enlarged lymph nodes presented in 47/50 of the cases. ConclusionPediatric NPC is generally not suspected clinically until late into the disease process. Awareness that NPC can occur in children should prompt careful evaluation for distinctive radiographic features. Earlier diagnosis may then direct the patient to timely appropriate therapy when these key radiographic features are present and recognized.

Use of Advanced Magnetic Resonance Imaging Techniques in Neuromyelitis Optica Spectrum Disorder.

Brain parenchymal lesions are frequently observed on conventional magnetic resonance imaging (MRI) scans of patients with neuromyelitis optica (NMO) spectrum disorder, but the specific morphological and temporal patterns distinguishing them unequivocally from lesions caused by other disorders have not been identified. This literature review summarizes the literature on advanced quantitative imaging measures reported for patients with NMO spectrum disorder, including proton MR spectroscopy, diffusion tensor imaging, magnetization transfer imaging, quantitative MR volumetry, and ultrahigh-field strength MRI. It was undertaken to consider the advanced MRI techniques used for patients with NMO by different specialists in the field. Although quantitative measures such as proton MR spectroscopy or magnetization transfer imaging have not reproducibly revealed diffuse brain injury, preliminary data from diffusion-weighted imaging and brain tissue volumetry indicate greater white matter than gray matter degradation. These findings could be confirmed by ultrahigh-field MRI. The use of nonconventional MRI techniques may further our understanding of the pathogenic processes in NMO spectrum disorders and may help us identify the distinct radiographic features corresponding to specific phenotypic manifestations of this disease.

The Cervical Trauma in Children: Difficulties in Diagnosis and Treatment Choice

Cervical traumas in children are often misunderstood and treated incorrectly. Injuries of the cervical spine are relatively rare in children but are a distinct clinical entity compared with those found in adults. The unique biomechanics of the pediatric cervical spine leads to a different distribution of injuries and distinct radiographic features. The treatment of cervical spine injuries in children must be founded on an understanding of spine development. Differences in injury patterns, interpretation of radiographic studies, and management of injuries are a direct result of the unique anthropometrics and biomechanics of a child. The literature specifically addressing cervical spine injuries in children is scarce most studies have been focused on adults. In more recent years, as distinct aspects of the pediatric spine have been better appreciated, more attention has been given exclusively to injuries of the cervical spine in younger patients. We describe two cases of cervical trauma of different entity for which the incorrect evaluation of the trauma led to a difficult diagnostic-therapeutic path.

Phenotype variations affect genetic association studies of degenerative disc disease: conclusions of analysis of genetic association of 58 single nucleotide polymorphisms with highly specific phenotypes for disc degeneration in 332 subjects

Background contextAlthough the influence of genetics on the process of disc degeneration is well recognized, in recently published studies, there is a wide variation in the race and selection criteria for such study populations. More importantly, the radiographic features of disc degeneration that are selected to represent the disc degeneration phenotype are variable in these studies. The study presented here evaluates the association between single nucleotide polymorphisms (SNPs) of candidate genes and three distinct radiographic features that can be defined as the degenerative disc disease (DDD) phenotype. PurposeThe study objectives were to examine the allelic diversity of 58 SNPs related to 35 candidate genes related to lumbar DDD, to evaluate the association in a hitherto unevaluated ethnic Indian population that represents more than one-sixth of the world population, and to analyze how genetic associations can vary in the same study subjects with the choice of phenotype. Study designA cross-sectional, case-control study of an ethnic Indian population was carried out. MethodsFifty-eight SNPs in 35 potential candidate genes were evaluated in 342 subjects and the associations were analyzed against three highly specific markers for DDD, namely disc degeneration by Pfirrmann grading, end-plate damage evaluated by total end-plate damage score, and annular tears evaluated by disc herniations and hyperintense zones. Genotyping of cases and controls was performed on a genome-wide SNP array to identify potential associated disease loci. The results from the genome-wide SNP array were then used to facilitate SNP selection and genotype validation was conducted using Sequenom-based genotyping. ResultsEleven of the 58 SNPs provided evidence of association with one of the phenotypes. For annular tears, rs1042631 SNP of AGC1 and rs467691 SNP of ADAMTS5 were highly significantly associated (p<.01) and SNPs in NGFB, IL1B, IL18RAP, and MMP10 were also significantly associated (p<.05). The rs4076018 SNP of NGFB was highly significant (p<.01) and rs2292657 SNP of GLI1 was significantly (p<.05) correlated to disc degeneration. For end-plate damage, the rs2252070 SNP of MMP 13 showed a significant association (p<.05). Previously associated genes such as COL 9, SKT, CHST 3, CILP, IGFR, SOXp, BMP, MMP 2-12, ADH2, IL1RN, and COX2 were not significantly associated and new associations (NGFB and GLI1) were identified. The validity of all the associations was found to be phenotype dependent. ConclusionsFor the first time, genetic associations with DDD have been performed in an Indian population. Apart from identifying new associations, the highlight of the study was that in the same study population with DDD, SNP associations completely changed when different radiographic features were used to define the DDD phenotype. Our study results therefore indicate that standardization of the phenotypes chosen to study the genetics of disc degeneration is essential and should be strongly considered before planning genetic association studies.

Cerebral capillary telangiectasias: a meta-analysis and review of the literature

As a result of their presumed benign natural history, cerebral capillary telangiectasias (CCTs) are infrequently addressed in the neurosurgical literature. We performed a comprehensive review of CCTs via the PubMed database to synthesize overall epidemiological, radiographic, natural history, and treatment results. Across ten series with 203 patients, mean age was 47, and 45% were male [95% confidence interval (CI), 0.30-0.65]. Notably, 78% of CCTs were in the pons (95% CI, 0.58-1.0). Six percent of CCTs were symptomatic. Across five radiographic series, all lesions enhanced after gadolinium, and all were hypointense on gradient echo sequences. Thirty-three percent were hypointense on T1-weighted pre-contrast imaging (95% CI, 0.2-0.51), 49% were hyperintense on T2-weighted imaging (95% CI, 0.31-0.72), and 74% were hypointense on diffusion-weighted imaging (95% CI, 0.5-1.0). Notably, 37% were associated with a prominent draining vein (95% CI, 0.21-0.6), and 11% with a developmental venous anomaly (95% CI, 0.04-0.25). Across four observational studies with 47 patients, there was no observed change in lesion morphology or hemorrhage in 65.7 patient-years of follow-up. Although the vast majority of CCTs are managed conservatively, we found ten cases of patients treated with surgical excision. We confirm that CCTs are a benevolent entity with a predilection for the pons. They have distinctive radiographic features including their lack of mass effect, consistent enhancement on T1-weighted sequences and hypointensity on gradient echo sequences, and common isointensity on pre-contrast T1-weighted and T2-weighted images. Management for these lesions has been nonoperative in almost all cases.

You Just Can't Call it Lung Cancer Anymore

The optimal treatment of lung cancer relies on accurate histopathologic diagnosis. This is usually accomplished with a limited amount of tissue, on which multiple tests must be performed to enable the histologic, immunohistochemical, and molecular characterization of tumors. In this issue of the journal, Travis1 has succeeded in his attempt to “think like the clinician” by better pathologically classifying adenocarcinoma. His success will facilitate the most appropriate treatment for patients with non-small cell lung cancer (NSCLC). Although interest in this subject must have been present for some time, several events accelerated the need for such a document. The first was the increased availability and use of chest computed tomography, which led to the identification of early-stage tumors with distinct radiographic features, some of which could not have been identified in the era of chest radiographs. A proportion of these lesions (e.g., ground glass opacities) could not be adequately defined by the previously available pathologic definitions. Further, the clinical behavior of these tumors was distinctly different when compared with the more commonly seen invasive cancers. Second, molecular aberrations with prognostic and predictive significance were identified and needed to be considered to optimize histopathological diagnoses.2,3 Third, the recent findings that commonly used therapeutic agents can selectively benefit patients with specific histologic phenotype, and molecular characteristics created the need for better definitions of NSCLC, particularly adenocarcinoma, which was addressed in this document.4–6 NSCLCs are clinically, pathologically, and molecularly heterogeneous entities. This diverse group, often with overlapping features, makes the demarcation of NSCLCs into histopathologically distinct subentities challenging. Nevertheless, successfully accomplishing this has never been so important because treatment selection is now integrally dependent on the histologic phenotype and the molecular genotype. The authors have attempted to accomplish this by tackling potential “areas of confusion” for practicing pathologists, radiologists, and clinicians. It is critically important to emphasize that obtaining adequate amounts of tissue at the time of diagnosis is essential, so that second interventional biopsies can be eliminated. Clinicians can no longer be satisfied with a diagnosis of NSCLC when making treatment decisions. Nevertheless, there are opposing forces at work as it relates to tissue acquisition and processing. On the one hand, minimally invasive access to tumor using technologies such as endobronchial ultrasound guided or transthoracic needle biopsy is increasing at a time when more tests need to be performed with each specimen. Reverting back to more invasive techniques for obtaining a larger volume of tissue for comprehensive testing is unrealistic. Therefore, the onus is on us to develop instruments that provide minimally invasive access while enabling pathologists to receive adequate tissue for analysis. The optimal utilization of tissue is also paramount. In most patients, histomorphological and molecular features can be appropriately characterized. The team must decide how to optimally use the available tissue. Travis tackled this problem by suggesting that pathologists minimize the use of immunohistochemical stains, so that more tissue is available for molecular diagnosis. We concur with this recommendation because treatment

Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature

IntroductionDesbuquois dysplasia is a rare, but well described syndrome with remarkable clinical and radiographic variability ranging from mild skeletal involvement with normal intelligence to those with early fatal outcome.Case presentationDistinctive radiographic features of Desbuquois dysplasia-typical hand type have been documented in a 3-year-old girl. Synophyrs, curly eyelashes and ptyrigium colli were additional findings.ConclusionThe phenotypic variability of Desbuquois syndrome might be an element of diagnostic confusion. However, distinctive radiographic features should urgently requiring attention and are virtually diagnostic. We report what might be the first clinical report of Desbuquois dysplasia from a consanguineous family in Austria. Unusual facial dysmorphism resembling Cornelia-De Lange syndrome and early patellar ossification were additional unreported features in connection with Desbuquois dysplasia.