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Journal of Internal Medicine Nov 2022Graves' orbitopathy (GO) is an orbital autoimmune disorder and the main extrathyroidal manifestation of Graves' disease, the most common cause of hyperthyroidism. GO... (Review)
Review
Graves' orbitopathy (GO) is an orbital autoimmune disorder and the main extrathyroidal manifestation of Graves' disease, the most common cause of hyperthyroidism. GO affects about 30% of Graves' patients, although fewer than 10% have severe forms requiring immunosuppressive treatments. Management of GO requires a multidisciplinary approach. Medical therapies for active moderate-to-severe forms of GO (traditionally, high-dose glucocorticoids) often provide unsatisfactory results, and subsequently surgeries are often needed to cure residual manifestations. The aim of this review is to provide an updated overview of current concepts regarding the epidemiology, pathogenesis, assessment, and treatment of GO, and to present emerging targeted therapies and therapeutic perspectives. Original articles, clinical trials, systematic reviews, and meta-analyses from 1980 to 2021 were searched using the following terms: Graves' disease, Graves' orbitopathy, thyroid eye disease, glucocorticoids, orbital radiotherapy, rituximab, cyclosporine, azathioprine, teprotumumab, TSH-receptor antibody, smoking, hyperthyroidism, hypothyroidism, thyroidectomy, radioactive iodine, and antithyroid drugs. Recent studies suggest a secular trend toward a milder phenotype of GO. Standardized assessment at a thyroid eye clinic allows for a better general management plan. Treatment of active moderate-to-severe forms of GO still relies in most cases on high-dose systemic-mainly intravenous-glucocorticoids as monotherapy or in combination with other therapies-such as mycophenolate, cyclosporine, azathioprine, or orbital radiotherapy-but novel biological agents-including teprotumumab, rituximab, and tocilizumab-have achieved encouraging results.
Topics: Antithyroid Agents; Azathioprine; Biological Factors; Cyclosporine; Glucocorticoids; Graves Ophthalmopathy; Humans; Hyperthyroidism; Immunosuppressive Agents; Iodine Radioisotopes; Receptors, Thyrotropin; Rituximab; Thyroid Neoplasms
PubMed: 35604323
DOI: 10.1111/joim.13524 -
Journal of Neurological Surgery. Part... Aug 2020Orbital schwannomas are rare neoplasms of the orbit. The presenting symptoms are often nonspecific. Classic imaging characteristics seen on magnetic resonance imaging...
Orbital schwannomas are rare neoplasms of the orbit. The presenting symptoms are often nonspecific. Classic imaging characteristics seen on magnetic resonance imaging (MRI) and orbital ultrasound can be useful to help aid in the diagnosis of orbital schwannoma. When diagnosed, the goal of treatment is complete surgical excision. The location of the tumor within the orbit dictates which surgical approach would provide the best exposure. When complete excision is achieved, recurrence rates are very low. This article addresses the etiology, patient population, presentation, natural history, and differential diagnosis of orbital schwannomas. Imaging characteristics and histopathologic subtypes are reviewed. Treatment goals, approaches, and specialties involved in the management of these patients is discussed. Finally, a representative case is presented.
PubMed: 33072479
DOI: 10.1055/s-0040-1713935 -
Signal Transduction and Targeted Therapy Oct 2022Extrachromosomal circular DNA (eccDNA), ranging in size from tens to millions of base pairs, is independent of conventional chromosomes. Recently, eccDNAs have been... (Review)
Review
Extrachromosomal circular DNA (eccDNA), ranging in size from tens to millions of base pairs, is independent of conventional chromosomes. Recently, eccDNAs have been considered an unanticipated major source of somatic rearrangements, contributing to genomic remodeling through chimeric circularization and reintegration of circular DNA into the linear genome. In addition, the origin of eccDNA is considered to be associated with essential chromatin-related events, including the formation of super-enhancers and DNA repair machineries. Moreover, our understanding of the properties and functions of eccDNA has continuously and greatly expanded. Emerging investigations demonstrate that eccDNAs serve as multifunctional molecules in various organisms during diversified biological processes, such as epigenetic remodeling, telomere trimming, and the regulation of canonical signaling pathways. Importantly, its special distribution potentiates eccDNA as a measurable biomarker in many diseases, especially cancers. The loss of eccDNA homeostasis facilitates tumor initiation, malignant progression, and heterogeneous evolution in many cancers. An in-depth understanding of eccDNA provides novel insights for precision cancer treatment. In this review, we summarized the discovery history of eccDNA, discussed the biogenesis, characteristics, and functions of eccDNA. Moreover, we emphasized the role of eccDNA during tumor pathogenesis and malignant evolution. Therapeutically, we summarized potential clinical applications that target aberrant eccDNA in multiple diseases.
Topics: Chromatin; DNA, Circular; Humans; Neoplasms
PubMed: 36184613
DOI: 10.1038/s41392-022-01176-8 -
Indian Journal of Ophthalmology Feb 2022Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion...
BACKGROUND
Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion of mesodermal processes, lined by keratinized stratified squamous epithelium and expanding slowly due to constant desquamation and dermal glandular elements. Approximately 80% are found in the head and neck region and comprise 3-9% all orbital masses.
PURPOSE
It is mandatory to know about the variable presentations of orbital dermoids and the surgical techniques that can be adopted based on the site, extent, age and aesthetic needs, presence of inflammation and possibility of intraoperative rupture.
SYNOPSIS
Orbital dermoids can be classified as juxta-sutural, sutural or soft tissue cysts; superficial or deep; intraosseous or extraosseous, and intraorbital or extraorbital. These smooth, painless, mobile or partially mobile lesions mostly present at the fronto-zygomatic suture with proptosis, displacement, ptosis or diplopia, depending on depth and extent. Therefore, it is important to understand the various presentations and the appropriate surgical techniques.
HIGHLIGHTS
We describe the embryological origin, types and clinical features of dermoids in this video and demonstrate the surgical and minimally invasive techniques for their management.
VIDEO LINK
https://youtu.be/-q3xD2igjcQ.
Topics: Blepharoptosis; Choristoma; Dermoid Cyst; Humans; Orbital Diseases; Orbital Neoplasms
PubMed: 35086291
DOI: 10.4103/ijo.IJO_145_22 -
International Journal of Oncology Feb 2020Orbital and ocular anatomy is quite complex, consisting of several tissues, which can give rise to both benign and malignant tumors, while several primary neoplasms can... (Review)
Review
Orbital and ocular anatomy is quite complex, consisting of several tissues, which can give rise to both benign and malignant tumors, while several primary neoplasms can metastasize to the orbital and ocular space. Early detection, accurate staging and re‑staging, efficient monitoring of treatment response, non‑invasive differentiation between benign and malignant lesions, and accurate planning of external radiation treatment, are of utmost importance for the optimal and individualized management of ophthalmic oncology patients. Addressing these challenges requires the employment of several diagnostic imaging techniques, such as high‑definition digital fundus photography, ultrasound imaging, optical coherence tomography, optical coherence tomography (OCT)‑angiography, computed tomography (CT) and magnetic resonance imaging (MRI). In recent years, technological advances have enabled the development of hybrid positron emission tomography (PET)/CT and PET/MRI systems, setting new standards in cancer diagnosis and treatment. The capability of simultaneously targeting several cancer‑related biochemical procedures using positron emitting‑radiopharmaceuticals, while morphologically characterizing lesions by CT or MRI, together with the intrinsic quantitative capabilities of PET‑imaging, provide incremental diagnostic information, enabling accurate, highly efficient and personalized treatment strategies. Aim of the current review is to discuss the current applications of hybrid PET/CT and PET/MRI imaging in the management of patients presenting with the most commonly encountered orbital and ocular tumors.
Topics: Eye Neoplasms; Humans; Magnetic Resonance Imaging; Multimodal Imaging; Orbital Neoplasms; Positron-Emission Tomography; Radiopharmaceuticals; Tomography, X-Ray Computed
PubMed: 31939615
DOI: 10.3892/ijo.2020.4955 -
Journal of Neurological Surgery. Part... Feb 2021Orbital hemangiomas are the most common primary neoplasm of the orbit and manifest as two distinct pathologic entities: infantile hemangiomas and cavernous hemangiomas....
Orbital hemangiomas are the most common primary neoplasm of the orbit and manifest as two distinct pathologic entities: infantile hemangiomas and cavernous hemangiomas. In this article, both infantile and cavernous hemangiomas are reviewed, with special attention paid to the natural history, clinical presentation, and management teams and approaches involved. An example case of each type of hemangioma is presented along with pearls and tips a reader can take away after reading this article.
PubMed: 33777617
DOI: 10.1055/s-0040-1722633 -
Laryngo- Rhino- Otologie Apr 2021This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it... (Review)
Review
This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are available, the prognosis are described. The authors tried to highlight the most characteristic aspects of the different diseases to describe their relevant aspects in spite of the brevity of the subsections.
Topics: Humans; Orbit; Orbital Diseases; Orbital Neoplasms; Rare Diseases
PubMed: 34352903
DOI: 10.1055/a-1384-4641