Dentinogenesis imperfecta type 2: a case report.

Dentinogenesis imperfecta type 2, also referred to as Capdepont teeth and hereditary opalescent dentin, is a rare hereditary dysplasia affecting the dentin that occurs during the histodifferentiation stage of tooth development. The resulting brownish gray opalescent hue creates an unesthetic appearance. This form of dentin anomaly occurs in approximately 1 in 8000 individuals in the United States. Teeth affected by hereditary dentin dysplasia chip easily, even under normal masticatory forces; however, as a result of underlying sclerotic dentin formation and obliteration of pulp chambers in response to attrition, these teeth are not hypersensitive. This case report describes this rare anomaly in a 27-year-old woman, whose discolored teeth were restored with ceramic laminate veneers.

Recognizing the salivary panomics for the clinical application in oral potentially malignant disorders.

Oral cancer arises as a result of multistep carcinogenic progress from precursor lesion to oral squamous cell carcinoma through collective mutational process occur in the stem cells of mucosal epithelium. The detection of such oral potentially malignant disorders (OPMDs)/cancer in subclinical level will greatly improve the prognosis of a patient. The highly specific and sensitive salivary biomarkers have functioned in detection, prediction, surveillance and therapeutic monitoring of the diseases of interest. The aim of the review is to appraise various salivary biomarkers for the clinical utility in OPMDs. An electronic web-supported search was performed via PubMed, ScienceDirect and Google Scholar search engine since the year 2015-2019. A total of 28 research articles were selected for the review after screening and assessment. The various genomic, transcriptomic, proteomic, metabolomic and miscellaneous markers were analyzed and their characteristics and clinical application in OPMD patients were discussed. miR-21, miR-31, miR-84, H3F3A mRNA + IL-8P, matrix metalloproteinase-9, chemerin, tumor necrosis factor-alpha, cytokeratin-10, ornithine + O-hydroxybenzoate + R5F, 8-hydroxy-2-deoxyguanosine, malondialdehyde, Vitamin E and Vitamin C are identified as potential markers for OPMD patients. Scientifically validated, reliable and economical clinical biomarkers in OPMDs would serve as evidence-based treatment from patient point of view. Further longitudinal studies are needed to verify the accuracy and validate the applicability of these diagnostic/prognostic markers. Saliva has been reported as a valuable noninvasive valuable tool in biomarker identification. Recent advancements in salivary biomarker identification techniques lead to various potential biomarkers with precise outcome. The utilization of these biomarkers for the clinical application in OPMDs depends on the feasibility and personal choice of the clinician.

Evaluation of abnormal styloid anatomy as a cause of internal jugular vein compression using a 3D-printed model: a laboratory investigation.

This study used a 3-dimensional (3D) craniocervical junction model of styloidogenic jugular venous compression (SJVC) syndrome to simulate and evaluate intracranial pressure (ICP) after internal jugular vein (IJV) compression by an elongated styloid process during axial rotation. The 3D-printed model created using data from an SJVC-syndrome patient included an articulating occipital-cervical junction, simplified arteriovenous system, gauge to measure simulated ICP, fixed obstruction simulating left-sided venous occlusion, and right-sided vascular tubing to simulate IJV compression. The model was rotated axially to its extreme right and left; maximum degree of motion and pressure were recorded for 3 cycles. Measurements were repeated after styloid resection in 25% increments. The extreme right rotation (11°) of the intact styloid condition yielded a mean pressure of 15.34 ±â€¯2.85 mmHg. After 25% styloid resection, extreme rotation (11°) yielded 13.96 ±â€¯2.88 mmHg. After 50%, extreme rotation increased to 16° yielding 17.41 ±â€¯3.52 mmHg; 11° rotation was 2.76 ±â€¯1.96 mmHg. After 75%, extreme rotation increased to 19° yielding -0.86 ±â€¯1.08 mmHg; 16° and 11° rotation yielded -0.69 ±â€¯1.19 and -0.86 ±â€¯1.08 mmHg, respectively. After 100%, extreme rotation to 19° yielded -1.21 ±â€¯0.60 mmHg; 16° and 11° rotation yielded -0.34 ±â€¯0.30 and 0.00 ±â€¯0.00 mmHg, respectively. Extreme left rotations (11°) yielded mean pressures of -0.17 ±â€¯0.00 (intact), -0.17 ±â€¯0.30 (25%), 2.24 ±â€¯0.79 (50%), 0.34 ±â€¯0.30 (75%), and 0.17 ±â€¯0.30 mmHg (100%). Simulated ICP increased proportionally to maximum ipsilateral axial rotation, and was highest after 50% styloid resection. Contralateral axial rotation did not increase pressure. IJV compression was relieved at 75% resection, suggesting that partial (75%) or complete styloidectomy is a potentially efficacious treatment for SJVC syndrome.

Anatomic Basis for Minimally Invasive Resection of Intradural Extramedullary Lesions in Thoracic Spine.

OBJECTIVE: Since the first resections of intradural extramedullary neoplasms, neurosurgeons have tended to preserve as much of the integrity of the spine as possible while ensuring a safe corridor to resect these lesions. A dimensional analysis of intradural lesions superimposed on a dimensional analysis of the thoracic canal would provide the anatomic basis for a minimal access approach. The authors report the results of such an analysis on a series of patients with intradural extramedullary lesions. METHODS: A retrospective analysis was undertaken of 26 thoracic intradural extramedullary lesions managed with open or minimally invasive resection. The size of each lesion was measured in the rostrocaudal, lateral, and anteroposterior dimensions and then averaged and compared with reported dimensions of the thoracic spinal canal. RESULTS: The mean (range) dimensions of the surgically resected thoracic lesions were 18.6 mm (10-25 mm) for rostrocaudal, 13.0 mm (7-18 mm) for lateral, and 13.6 mm (9-17 mm) for anteroposterior. No patient had any evidence of thoracic canal remodeling. CONCLUSIONS: Thoracic intradural extramedullary lesions become symptomatic as they approach the limits of the thoracic canal, resulting in an inherent dimensional limitation in the rostrocaudal, lateral, and anteroposterior dimensions. Displacement of the spinal cord by the lesion to one side further favors a minimally invasive unilateral approach. A paraspinal unilateral hemilaminectomy approach with a 35 × 20 mm exposure centered over the lesion offers a safe surgical corridor for resection while preserving the posterior tension band, facet complexes, and paraspinal musculature.

Multimodality management of cerebral arteriovenous malformations.

Arteriovenous malformations (AVMs) of the brain are diverse lesions that vary widely in location, size, and complexity. Treatment options for AVMs are correspondingly complex. Complete elimination of an AVM is required to protect patients from future hemorrhage. Decisions about whether to treat and, if so, how to treat these lesions depend on the characteristics of the patient and the specific characteristics of the AVMs. The characteristics of AVMs are often summarized through grading systems. Some AVMs can be managed conservatively, whereas others can be managed with microsurgical resection, radiosurgical ablation, or endovascular embolization, either individually or in combination. Some AVMs may also be treated with partial therapy to reduce the risk of hemorrhage or to ameliorate symptoms. In this chapter, we review the key factors that influence whether and how to manage AVMs with multimodality treatment.

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome; OMIM #308300) is an X-linked dominant neurocutaneous disorder with presumed male lethality. It is usually diagnosed in female newborns based on skin features (erythematous, vesicular, or bullous eruption in linear streaks). The skin lesions evolve into a verrucous stage, followed by atrophy and scarring, leaving linear areas of hypopigmentation and hyperpigmented macules in bizarre patterns following Blaschko's lines. Systemic and neurologic complications include focal seizures and hemorrhagic cerebral infarction in infants, and retinal vasculopathy leading to blindness. Hypodontia, conical or pegged teeth, and linear areas of alopecia persist into adulthood. IP is caused by mutation of the IKBKG/NEMO gene on Xq28. Deletion of exons 4 to 10 (NEMOΔ4-10) accounts for about 80% of cases (familial and sporadic). NEMO mutation leads to loss of function of NF-κB, a critical protein that modulates cellular proliferation, apoptosis, and response to proinflammatory factors, leading to the characteristic features of IP. In female carriers, selective loss of cells expressing the mutant X-chromosome results in completely skewed X-inactivation in the majority of cases. Study of mouse models in which various components of the NF-κB pathway (including NEMO) have been knocked out has contributed significantly to our understanding of disease pathogenesis.

Primary cervical spine carcinoid tumor in a woman with arm paresthesias and weakness: a case report.

INTRODUCTION: Carcinoid tumors are neuroendocrine neoplasms derived from the enterochromaffin cells. Central nervous system involvement is rare and has been reported either as metastases to the brain and spine or primary tumors involving the sacrococcygeal spine. We report the first case of a primary carcinoid tumor of the cervical spine. CASE PRESENTATION: A 50-year-old African-American woman presented with a 4-month history of numbness, paresthesias, and mild left-hand weakness. Magnetic resonance imaging of her cervical spine revealed a homogenously enhancing extradural mass, indenting the cervical cord and expanding the left neural foramen at C7-T1. A C7 corpectomy, en bloc resection of the tumor, and anterior C6-T1 fusion were performed to decompress the spinal cord and nerves and provide stability. Postoperative histopathologic examination and immunohistochemical analysis were consistent with carcinoid tumor. There has been no recurrence at the 6-year follow-up visit. CONCLUSIONS: Primary cervical carcinoid tumor is extremely rare, but should be included in the differential diagnosis of enhancing expansile extradural masses compressing the spinal cord and nerves. Surgical resection may provide a definitive cure.