Masoud Saman

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.

Platelet-rich fibrin matrix for facial plastic surgery.

Platelets are known primarily for their role in hemostasis, but there is increasing interest in the effect of platelets on wound healing. Platelet isolates such as platelet-rich plasma have been advocated to enhance and accelerate wound healing. This article describes the use of a novel preparation, platelet-rich fibrin matrix (PRFM), for facial plastic surgery applications such as volume augmentation, fat transfer supplementation, and as an adjunct to open surgical procedures.

Mandibular Osteotomies and Distraction Osteogenesis: Evolution and Current Advances

IMPORTANCE Although a number of mandibular and occlusal problems may be addressed by orthodontic treatment alone, dentofacial osteotomies are often needed to achieve desired functional or cosmetic results. With the increased popularity of mandibular distraction osteogenesis in recent years, the role of the facial plastic and reconstructive surgeon is crucial in the multidisciplinary care of patients with such problems. OBJECTIVE To review the history and evolution of mandibular osteotomies and distraction osteogenesis and to discuss indications, advantages, disadvantages, and recent advances of these techniques. EVIDENCE REVIEW Medline and PubMed searches without date limits, confined to publications in English, German, and French languages were used to search for terms mandibular advancement, mandibular osteotomy, orthognathic surgery, mandibular distraction osteogenesis, prognathism, and retrognathism in the respective languages. References not found on the sources noted were found in print form in the New York Medical College Library when needed. Particular techniques, as originally described or relating to mandibular osteotomies and mandibular distraction osteogenesis, were critically reviewed. FINDINGS The goal of surgical mandibular modification procedures is to correct a variety of craniofacial abnormalities for both functional and aesthetic purposes. Multiple techniques of both mandibular osteotomy and distraction osteogenesis have been shown to be effective. Their effectiveness and utility is primarily determined by the specific craniofacial defect and desired outcome, as well as surgeon preference and patient compliance. CONCLUSIONS While mandibular osteotomy has evolved tremendously, distraction osteogenesis continues to grow as a leading method of surgical correction for a variety of craniofacial defects. Current research shows significant strides in making distraction more effective and efficient to use for both the surgeon and the patient. With the growing popularity of these procedures, the up-to-date knowledge of the facial plastic and reconstructive surgeon in these advances is of utmost importance.

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.

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.

Cleft Lip and Palate in the Arts: A Critical Reflection

Background The aesthetics of facial structure are used by humans to measure ones beauty, character, and overall “goodness.” Individuals born with cleft lip and/or palate are often stigmatized and face much psychosocial adversity. Social attitudes and beliefs have a direct impact upon the psychological development of these individuals. Such social norms are in large part shaped by the physical representations of “good” and “attractive” in various art media including films, advertisements, and paintings. Objective Individuals born with a cleft have been portrayed in the artworks of different eras. The light in which they are portrayed stems from the prevalent beliefs of each period and sheds light on the social attitudes of each epoch toward clefts. Here we discuss the social and psychological ramifications of these works. We then review several artworks representing cleft lip and/or palate and propose an active role for the artist in shaping social attitudes regarding facial deformities. Methods Numerous articles and works of arts were examined and inspected for signs of facial deformity, with particular attention to cleft lip and/or palate. Conclusion Social media have an important role in defining the norms of society. Much of the art of the past has depicted negatively individuals born with cleft lip and/or palate deformity, thus excluding them from the norm. In order to decrease the negative social stigmas of cleft lip and/or palate, it is now the responsibility of society to widen its range of norms to include individuals born with these deformities through “normal” representations in the various media.

Carotid Artery Sacrifice and Reconstruction in the Setting of Advanced Head and Neck Cancer

Objective To determine oncological and neuromorbidity outcomes in patients with advanced head and neck cancer (stage IVB) requiring sacrifice and reconstruction of the carotid artery. Study Design Case series with chart review. Setting Tertiary care referral center. Subjects and Methods Overall, 51 patients underwent carotid artery sacrifice during surgical treatment of the neck, in both the primary and salvage setting. All patients underwent autogenous in-line carotid artery bypass grafting with either saphenous vein or the deep femoral vein in conjunction with vascular surgery. In all, the study included 39 males and 12 female subjects, with age ranging from 39 to 82 (mean, 62.7). Results Two patients (3.9%) had a cerebral vascular accident in the immediate postoperative period. The remaining 49 patients (96%) had no neurologic sequela. Serial ultrasonic evaluation revealed 4 patients with intra-luminal thrombus within the site of reconstruction. Perioperative mortality occurred in a single patient. Disease-related mortality occurred in 9.8% (5) of patients, with an overall 2-year survival of 82%. Conclusions We presently report the largest series of surgical treatment for advanced head and neck cancer with carotid artery involvement. We document an overall 2-year survival of 82% in the setting of low perioperative neuromorbidity and mortality rates. We therefore consider carotid artery sacrifice and autogenous vein graft reconstruction in the absence of distant metastatic disease as a viable treatment option for what was once thought to be a palliative procedure.

Management of the thyroid gland during total laryngectomy in patients with laryngeal squamous cell carcinoma

The goal of the study was to determine the role of routine total thyroidectomy and hemithyroidectomy in patients undergoing total laryngectomy for laryngeal squamous cell carcinoma.

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.

The Role of Parotidectomy in the Treatment of Auricular Squamous Cell Carcinoma

Objective We analyze parotid specimens in patients treated with prophylactic parotidectomy for squamous cell carcinoma of the auricle greater than or equal to 2 cm to determine rates of metastasis and the efficacy of elective resection. Study Design Case series with chart review. Setting Cancer treatment center in Fort Worth, Texas, from 1998 to 2013. Subjects and Methods The study included 104 patients between ages 36 and 97 years with primary auricular squamous cell carcinoma greater than or equal to 2 cm, with no evidence of adenopathy or parotid involvement on imaging. Patients underwent local excision and ipsilateral parotidectomy. The primary cancer was analyzed for vascular involvement, perineural invasion, and cartilage involvement, while the parotid specimen was analyzed for cancer positivity. Results Thirty-nine parotid (37.5%) samples were positive for carcinoma. Of these, 16 patients had primary auricular carcinomas with vascular involvement, 17 had perineural invasion, and 4 had cartilage involvement. Thirty-two of 77 affected men and 7 of 27 affected women had positive parotid specimen. Vascular involvement (P = .0006) and perineural invasion (P = .0027) of the primary lesion were significantly higher in patients with a positive parotid specimen. Cartilage involvement and sex were not statistically significant. Conclusions Elective parotidectomy is beneficial in patients with squamous cell carcinoma of the auricle at least 2 cm in size, especially in lesions having perineural invasion and vascular involvement. For patients with positive parotid specimens, we recommend postoperative external beam radiation therapy and close surveillance.