Sameep Kadakia

Treacher Collins Syndrome: The genetics of a craniofacial disease

OBJECTIVES The molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse. This article codifies the most recent findings in this complex area of research to further current understanding of the disease process. Elucidating the genetic causes of the disorder can be useful in earlier detection and better treatment planning. DESIGN Articles from 1991 to 2013 were selected and reviewed by five researchers utilizing the most recent literature of the genetics and pathophysiology of TCS. RESULTS Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS. The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis. However, recent data illustrating that P53 heterozygosity is protective against TCS, and that P53 and TCOF1 hemizygous embryos do not affect ribosomal function, implicates P53 or elements downstream of P53 as playing a role in TCS pathogenesis. CONCLUSION Our study codified nascent findings of the molecular determinants of TCS. These findings add to a burgeoning database of TCS-associated mutations, and as such, can be used to establish TCS diagnosis and further clarify TCS pathogenesis.

Rare Thyroid Malignancies: an Overview for the Oncologist

Anaplastic thyroid cancer, medullary thyroid cancer, primary thyroid lymphoma and primary thyroid sarcoma are rare thyroid cancers that comprise 5-10% of all thyroid malignancies. Unlike well-differentiated thyroid cancers, these malignancies have few treatment options and carry a worse prognosis. The literature surrounding these pathologies is limited, but remains an area of active research. Despite the rarity of these conditions, they remain an important part of the differential diagnosis for any thyroid nodule. Awareness of their presentation, work-up and management is critical for oncologists and head and neck surgeons. The purpose of this article is to provide a broad overview of these malignancies with an emphasis on emerging clinical research and therapies.

Squamous cell carcinoma in a thyroglossal duct cyst: A case report with review of the literature

Carcinoma arising within a thyroglossal duct cyst (TGDC) is exceedingly uncommon, occurring in about 1% of TGDC (Chrisoulidou et al., 2013 [1]). Since the first description of TGDC carcinoma in 1911 by Brentano, approximately 200 cases have been reported in the world literature, mostly as single case reports making its true incidence difficult to determine (Hanna, 1996 [2]). There are numerous reports in the literature of papillary and follicular TGDC carcinoma, but only limited reports of squamous cell carcinoma. In order for a lesion to qualify as squamous cell carcinoma of a TGDC, the lesion must arise from the epithelial lining. Recognition and understanding of this entity are important in staging and planning of treatment. Exclusion of primary squamous cell carcinoma arising from an adjacent structure or metastatic central compartment nodal disease is important in the evaluation for diagnosis to be confirmed. A thorough work up should be undertaken to exclude other primary malignancies that may have metastasized. We present a unique case of squamous cell carcinoma, along with supporting pathology and radiology imaging. We then review this rare entity and provide some insight into the diagnosis and management.

Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

ObjectivesThe molecular underpinnings of Moebius syndrome (MBS) are diverse. This article provides a comprehensive summation of the genetic and etiologic literature underlying this disorder. Elucidating the genetic causes of the disorder can aid in earlier detection and treatment planning.DesignArticles from 1880–2013 were selected and reviewed by six researchers to understand all of the molecular theories and chronicity of advancements in the literature.ResultsMutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain. These are among the numerous genes that have been linked to the development of MBS.ConclusionOur study codified nascent findings of the molecular determinants of MBS. These findings add to a growing database of MBS-associated mutations and can be used to diagnose MBS and clarify pathogenesis.

Eagle syndrome: A comprehensive review

The objective of this report is to summarize the symptoms, diagnostic workup, necessary imaging, and management of Eagle syndrome. A comprehensive literature review was conducted on peer-reviewed publications of Eagle syndrome across multiple disciplines in order to gain a thorough understanding of the presentation, diagnosis, and management of this disorder. Diagnoses of Eagle Syndrome have increased, in part due to the awareness of physicians to patient symptomatology. While cervical pain and dysphagia are among the typical symptoms, patients can present with a wide spectrum of benign and dangerous symptoms. CT scan is the gold standard for diagnosis and can be aided by both 3D reconstructive imaging and Angiography. Treatment strategies include medical management (analgesics, corticosteroids, antidepressants, and anticonvulsants) and varied surgical approaches (extraoral, transoral, endoscopic assisted). Increased understanding by providers treating patients with Eagle Syndrome allows for a more comprehensive treatment plan. With a variety of medical regimens and more definitive surgical approaches, Eagle Syndrome can be treated safely and effectively.

Concepts in Neural Coaptation: Using the Facial Nerve as a Paradigm in Understanding Principles Surrounding Nerve Injury and Repair.

Objectives:Individuals with nerve transection face unpredictable outcomes, and microsurgical interventions have variable success. The facial nerve in particular is prone to traumatic transection and leads to debilitating sequelae. Surgeons have used multiple modalities of enhancing nerve regeneration and restoring premorbid functionality. The success of nerve regeneration is predicated on multiple physiologic factors. This article sought to collate the literature on factors influencing nerve damage and repair, using the facial nerve as a paradigm. As such, facial reanimation will also be briefly discussed as it relates to the central theme. Design:A PubMed search was conducted to find articles published on nerve physiology and anatomy, as well as repair. Articles from 1947 to 2013 were studied; however, the preponderance of articles in the study was from the past 15 years to include recent advances. Results:The type and severity of nerve injury, as well as timing of intervention, influence the anatomical and functional outcomes of nerve repair. As there is no uniform solution for all reconstructive challenges, multiple factors must be considered when planning an intervention. Future advances suggest a potential role for engineered nerve conduits in providing a tool for nerve regrowth. Conclusion:Our review has detailed mechanisms of nerve injury, physiology, interventions in nerve repair, and future direction of this expanding field. This review provides a guide for the microsurgeon in factors involved in restorative success.

Transoral Robotic Surgery in Oropharyngeal Carcinoma

CONTEXT The incidence of oropharyngeal squamous cell carcinoma has increased during the past decade and is related primarily to the human papillomavirus. This change in etiology, from tobacco and alcohol to human papillomavirus, has resulted in improved survival for the disease. In the United States, open resection had largely been replaced by concurrent chemotherapy and/or radiotherapy by the early 2000s. The advent of transoral surgery has led to an increase in surgery as the primary treatment for both early- and advanced-stage oropharyngeal squamous cell carcinoma because it has potential advantages over open surgery and nonsurgical modalities. OBJECTIVE To provide an overview of transoral robotic surgery for oropharyngeal squamous cell carcinoma and contrast it with other surgical and nonsurgical modalities. DATA SOURCES Articles from 2000 to 2014 were accessioned on PubMed and reviewed for utility by the primary authors. CONCLUSIONS Transoral surgery has become more commonly used as a minimally invasive approach to treat oropharyngeal tumors. Other strategies, including radiation, chemotherapy with radiation, and open surgery, are still important treatment approaches. The treatment options for an individual patient rely on multiple factors, including the tumor location and size, features of the tumor, and patient comorbidities. The continued study of these techniques is important to match the patient with the most appropriate treatment.

Facial nerve paralysis after pre-operative embolization of a paraganglioma

Vascular tumors pose a challenging problem in treatment, as surgical planning can be extensive. Often times, pre-operative embolization is required to minimize blood loss during surgery. With the advent of new biochemical compounds, embolization modalities have evolved over the past decade. Although rare, side effects and complications of embolic materials have been cited sporadically in the literature. We present an interesting case of a patient afflicted with facial paralysis and other cranial neuropathies following embolization of a paraganglioma, along with the appropriate imaging that confirms the etiology of her paralysis.

Carpenter syndrome: a review for the craniofacial surgeon.

Importance As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome. Objectives The phenotypic characteristics of CS are diverse, and the molecular underpinnings are equally complex. To date, the surgical management of this syndrome has not been fully elucidated, with only a number of selected case studies illustrating proper approach to treatment. This article summarizes treatment approaches from selected CS literature, analyzes craniofacial reconstruction techniques used in related syndromes, and discusses their possible role in CS. Design Articles from 1901 to 2013 were selected and reviewed by 5 researchers using the most recent literature of the genetics, pathophysiology, phenotype, and management of CS. Results Mutations in RAB23 have been implicated in the pathogenesis of CS. The RAB23 is a small, 35.43-kb gene with 1 noncoding and 6 coding regions that encode a guanosine triphosphatase responsible for regulating intracellular vesicular trafficking. Given the scarcity of CS cases, an algorithm for CS management has not been established. However, early release of craniosynostoses with fronto-orbital advancement is clearly indicated in the CS literature, particularly in cases of elevated intracranial pressure. Management of other craniofacial malformations is less clear. Literature from other craniofacial syndromes, including Apert syndrome and craniofacial microsomia, was helpful in establishing a putative timeline for craniofacial intervention. Conclusions This study collates surgical management data from CS and other related syndromes as a means of establishing a cohesive approach to the surgical treatment of CS.

Topical oral cavity chemoprophylaxis using isotretinoin rinse: A 15-year experience: Chemoprophylaxis Using Isotretinoin Rinse

To determine the utility of isotretinoin oral rinses as a method of chemoprevention for recurrent oral cavity squamous cell carcinoma (SCC), carcinoma in situ, and dysplasia.