Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort.

Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase the risk of developing dental caries. Based on previous studies, certain dental anomalies tend to co-occur in patients, suggesting that these traits may share common genetic and etiological components. The main goal of this study was to implement a multivariate genome-wide association study approach to identify genetic variants shared between correlated structural dental anomalies and dental caries.

Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.

Genome-wide scans have shown that common risk alleles for orofacial clefts (OFC) tend to be located in noncoding regulatory elements and cumulatively explain only part of the heritability of OFCs. Low-frequency variants may account for some of the "missing" heritability. Therefore, we scanned low-frequency variants located within putative craniofacial enhancers to identify novel OFC risk variants and implicate new regulatory elements in OFC pathogenesis.

Utility of an Anterior Tibial Perforator for Skin Paddle Viability in Through-and-Through Defects of the Mandible.

The present report describes an alternative technique of using a flow- through, double-paddle, fibular, osteocutaneous free flap based on one perforator from the peroneal system and one perforator from the anterior tibial system for a through-and-through mandibular defect. The patient was a 65-year-old man who underwent a composite resection of the floor of the mouth, mandible, and chin pad due to recurrent oral cavity squamous cell carcinoma. The fibula was harvested with one posterior-lateral septal perforator from the peroneal system and with a second skin perforator from the anterior tibial system to perfuse a 15 × 14 cm skin island.

Indications and Outcomes of Single-Pedicle vs 2-Pedicle Thigh Free Flaps in Head and Neck Reconstruction.

Importance: Flap choice and design are crucial to the success of free flap reconstruction of the head and neck. These are dependent on donor and recipient site characteristics.

Objective: To demonstrate indications and outcomes of a single-pedicle anterolateral thigh flap (standard ALT flap) vs a thigh free flap with 2 pedicles in head and neck reconstruction.

GWAS reveals loci associated with velopharyngeal dysfunction.

Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors.

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.

The biological relatives of offspring with nonsyndromic orofacial clefts have been shown to exhibit distinctive facial features, including excess asymmetry, which are hypothesized to indicate the presence of genetic risk factors. The significance of excess soft tissue nasal asymmetry in at-risk relatives is unclear and was examined in the present study. Our sample included 164 unaffected parents from families with a history of orofacial clefting and 243 adult controls.

Surgical management of a nasal AVM in a pediatric patient: A case report.

Arteriovenous malformations (AVMs) are a type of high-flow vascular malformation that are characterized by abnormal capillary communications between the arterial and venous systems. While they are most commonly located in the head and neck region, their appearance in the nose is considerably rare, resulting in a paucity of literature regarding the surgical management of these lesions. We present the case of a 13-year-old male with a 6.

Designing a Fibular Flow-Through Flap with a Proximal Peroneal Perforator-Free Flap for Maxillary Reconstruction.

Reconstruction of a composite maxillary defect is frequently performed with a fibular osteocutaneous free flap to address both the bony and mucosal defect. If during the harvest of the fibula a distal skin perforator is not present due to vascular variations, reconstruction can potentially be done using the soleus muscle for filling of the palatal mucosal defect. An additional challenge arises when the accompanying skin paddle that has been harvested is not perfused, but the fibula remains viable.

Reconstructing Discontinuous Facial Defects with Simultaneous Ulnar Perforator Free Flaps.

Multiple, simultaneous skin cancers of the face are common. This is the first description of reconstructing discontinuous facial defects (i.e.

Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions.

Utility of Indocyanine Green Angiography in Arterial Selection during Free Flap Harvest in Patients with Severe Peripheral Vascular Disease.

Indocyanine green angiography (SPY) was used to guide arterial selection for an anterolateral thigh free flap in the setting of severe peripheral vascular disease. SPY technology serves as a novel and sensitive intraoperative tool to predict decreased tissue perfusion from vessel sacrifice for flap harvest. Change in SPY time parameters measuring superficial blood flow distal to the donor site while temporarily intraoperatively clamping different possible arterial pedicles can optimize free flap design to avoid iatrogenic critical limb ischemia.

Neurosurgical sequelae of domestic dog attacks in children.

OBJECTIVE The authors' goals in this study were to describe a series of dog attacks on children that required neurosurgical consultation and to better understand the pattern of injuries inflicted, the circumstances that place children at risk for attack, and the dog breeds involved. In addition, the authors review the surgical and medical management of these patients. METHODS The authors performed a retrospective review of all children requiring neurosurgical consultation for dog bite at a regional Level 1 pediatric trauma center over a 15-year period.

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation.

Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using three-dimensional (3D) surface imaging, we tested whether different forms of clefting showed evidence of increased interorbital distance.

Evidence for Extending the Duration of Chemoprophylaxis following Free Flap Harvest from the Lower Extremity: Prospective Screening for Deep Venous Thrombosis.

Background: The purpose of this study was to investigate the incidence of symptomatic and asymptomatic deep venous thrombosis in patients undergoing harvest of a free flap from the lower extremity who were receiving standard chemoprophylaxis while hospitalized.

Methods: A retrospective review of 65 consecutive patients undergoing surgery between 2011 and 2013 was performed to determine the incidence of symptomatic deep venous thrombosis. These patients were screened for deep venous thrombosis based on development of symptoms.

A Triple Pedicle, Near-Total Thigh Flap Supercharged With the Flow-Through Technique.

This is the first instance where the technique of supercharging a flap with a second pedicle, combined with a third pedicle using the flow-through technique, is described in literature. We present the case of a 66-year-old man with multiple recurrent squamous and basal cell carcinomas of the face. He underwent a wide local excision resulting in a 20 × 26-cm defect.

A technique for pediatric chest wall reconstruction using custom-designed titanium implants: description of technique and report of two cases.

Purpose: We present a surgical technique for chest wall reconstruction using custom-designed titanium implants developed for two female patients to provide both chest wall symmetry and adequate stability for staged breast reconstruction.

Methods: A retrospective review was performed for two adolescent female patients with large chest wall defects who underwent the described technique. The etiology of the chest wall deficiency was secondary to Poland's syndrome in one patient, and secondary to surgical resection of osteosarcoma in the other patient.

Head Loss As an Explanation of the Steal Phenomenon in Microvascular Surgery.

Vascular steal has been cited to help explain end-organ ischemia after microvascular reconstruction. Attempts to clarify a mechanism of vascular steal have been made by modeling blood circulation after a simple electrical circuit, suggesting that the free flap provides a path of least resistance for blood flow and thereby compromises end-organ perfusion. We present a case of a posterior medial thigh perforator flap for the reconstruction of a diabetic foot ulcer in a patient with a single vessel providing inflow to the foot.

Ear Infection in Isolated Cleft Lip: Etiological Implications.

Background And Hypothesis: Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n = 94) compared with controls (n = 183).

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity.