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SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis

Wu, Robin T; Timberlake, Andrew T; Abraham, Paul F; Gabrick, Kyle S; Lu, Xiaona; Peck, Connor J; Sawh-Martinez, Rajendra F; Steinbacher, Derek M; Alperovich, Michael A; Persing, John A
BACKGROUND:De novo or rare transmitted mutations in the SMAD6 gene affect 7 percent of midline nonsyndromic synostosis patients. This study aimed to determine the neurocognitive sequelae of SMAD6 synostosis. METHODS:Nonsyndromic synostosis patients 6 years or older with SMAD6 mutations and non-SMAD6 nonsyndromic synostosis controls were recruited. All patients completed a double-blinded neurodevelopmental battery (i.e., Wechsler Fundamentals, Wechsler Abbreviated Scale of Intelligence, Beery-Buktenica Developmental test), and parents/guardians completed behavioral surveys (Behavior Rating Inventory of Executive Function and Behavior Rating System for Children). RESULTS:Twenty-eight patients participated: 10 known SMAD6 patients (average age, 10 years; 1 female; eight metopic and two sagittal; nine treated with cranial vault remodeling and one treated with strip craniectomy) and 18 non-SMAD6 controls (age, 9.5 years; three female; 12 metopic and six sagittal; 17 treated with cranial vault remodeling and one treated with strip craniectomy). There were no differences between any demographics. Testing age, surgical age, parental education, and household income correlated with cognition (p < 0.05). After controlling for these factors, SMAD6 patients performed worse on numerical operations (p = 0.046), performance intelligence quotient (p = 0.018), full-scale intelligence quotient (p = 0.010), and motor coordination (p = 0.043) compared to age/race/gender/synostosis/operation-matched controls. On behavioral surveys, SMAD6 patients scored worse on 14 assessments, including aggression, communication, and behavior. CONCLUSIONS:This prospective double-blinded study revealed that neuropsychiatric development of nonsyndromic synostosis may be under genetic control. SMAD6 mutations led to poorer mathematics, performance intelligence quotient, full-scale intelligence quotient, and motor coordination, even after controlling for exogenous factors. Genetic testing may be critical for advocating early adjunctive neurodevelopmental therapy. CLINICAL QUESTION/LEVEL OF EVIDENCE/METHODS:Risk, II.
PMID: 31592950
ISSN: 1529-4242
CID: 4336552

Evolution of the Surgical Technique for "Breast in a Day" Direct-to-Implant Breast Reconstruction: Transitioning from Dual-Plane to Prepectoral Implant Placement

Frey, Jordan D; Salibian, Ara A; Levine, Jamie P; Karp, Nolan S; Choi, Mihye
PMID: 32097340
ISSN: 1529-4242
CID: 4324282

Transversus Abdominis Plane Blocks in Microsurgical Breast Reconstruction: A Systematic Review and Meta-analysis

Abdou, Salma A; Daar, David A; Wilson, Stelios C; Thanik, Vishal
BACKGROUND: Transversus abdominis plane (TAP) blocks have been shown to significantly reduce pain and narcotic consumption following major abdominal surgeries. This study investigates the literature on their use in microsurgical breast reconstruction. PATIENTS AND METHODS/METHODS: A systematic review of TAP blocks in autologous breast reconstruction was performed. RESULTS: = 0.13). CONCLUSION/CONCLUSIONS: While the current data support the use of TAP blocks in autologous breast reconstruction, additional studies with more standardized protocols should be performed to determine the most optimal practice.
PMID: 32088916
ISSN: 1098-8947
CID: 4324112

A Review of Insurance Coverage of Gender-Affirming Genital Surgery

Ngaage, Ledibabari M; Knighton, Brooks J; Benzel, Caroline A; McGlone, Katie L; Rada, Erin M; Coon, Devin; Bluebond-Langner, Rachel; Rasko, Yvonne M
BACKGROUND:Despite the multiple benefits of gender-affirming surgery for treatment of gender dysphoria, research shows that barriers to care still exist. Third-party payers play a pivotal role in enabling access to transition-related care. The authors assessed insurance coverage of genital reconstructive ("bottom") surgery and evaluated the differences between policy criteria and international standards of care. METHODS:A cross-sectional analysis of insurance policies for coverage of bottom surgery was conducted. Insurance companies were selected based on their state enrollment data and market share. A Web-based search and telephone interviews were performed to identify the policies and coverage status. Medical necessity criteria were abstracted from publicly available policies. RESULTS:Fifty-seven insurers met inclusion criteria. Almost one in 10 providers did not hold a favorable policy for bottom surgery. Of the 52 insurers who provided coverage, 17 percent held criteria that matched international recommendations. No single criterion was universally required by insurers. Minimum age and definition of gender dysphoria were the requirements with most variation across policies. Almost one in five insurers used proof of legal name change as a coverage requirement. Ten percent would provide coverage for fertility preservation, while 17 percent would cover reversal of the procedure. CONCLUSIONS:Despite the medical necessity, legislative mandates, and economic benefits, global provision of gender-affirming genital surgery is not in place. Furthermore, there is variable adherence to international standards of care. Use of surplus criteria, such as legal name change, may act as an additional barrier to care even when insurance coverage is provided.
PMID: 32097329
ISSN: 1529-4242
CID: 4324272

Analysis of Trends in the Selection and Production of U.S. Academic Plastic Surgery Faculty

Daneshgaran, Giulia; Cooper, Michael N; Ni, Pauline; Zhou, Sarah; Weichman, Katie E; Wong, Alex K
In academic plastic surgery, there is a paucity of data examining the relationship between program rank, faculty training history, and production of academic program graduates. The purpose of this study is to determine objective faculty characteristics that are associated with a high program reputation.
PMCID:7015607
PMID: 32095411
ISSN: 2169-7574
CID: 4323252

Three-Dimensional Topographic Surface Changes in Response to Volumization of the Lateral Suborbicularis Oculi Fat Compartment

Schreiber, Jillian E; Stern, Carrie S; Jelks, Elizabeth B; Jelks, Glenn W; Tepper, Oren M
BACKGROUND:Autologous fat grafting is an increasingly preferred method for aesthetic facial rejuvenation. The authors' group previously described the concept of "lipotopography" as topographic surface changes that occur with fat grafting to discrete facial fat compartments. The purpose of this study was to define the "augmentation zone" of the lateral suborbicularis oculi fat compartment to understand the topographical surface changes following augmentation. METHODS:Nine cadaver hemifaces were injected with fat analogue at intervals from 1 to 4 cc. Three-dimensional photographs were taken at baseline and following each 1-cc incremental injection. The interval surface changes were calculated using three-dimensional software including perimeter, diameter, and projection. RESULTS:The augmentation zone of the lateral suborbicularis oculi fat compartment was characterized by a consistent shape and boundary. The shape was an elongated oval bound superiorly by the lid-cheek junction and inferiorly at the level of the zygomaticocutaneous ligament. Vertical and horizontal diameter and perimeter showed initial increases between 1 and 2 cc and then a plateau between 2 and 3 cc. Projection changes demonstrated an initial slow increase from 1 to 2 cc injection followed by nearly linear growth from 2 to 4 cc. CONCLUSIONS:Three-dimensional photography and computer analysis provide tools to understand the surface anatomy change in response to fat grafting specific facial fat compartments. Targeted volumization of the lateral suborbicularis oculi fat compartment also results in a unique surface change with consistent shape and anatomical boundaries. The lid-cheek junction and zygomaticocutaneous ligament were observed to restrict the expansion of fat analogue for all injection volumes. CLINICAL QUESTION/LEVEL OF EVIDENCE/METHODS:Therapeutic, V.
PMID: 32097301
ISSN: 1529-4242
CID: 4323332

Barriers to Bottom Surgery for Transgender Men

Nolan, Ian T; Daar, David A; Poudrier, Grace; Motosko, Catherine C; Cook, Tiffany E; Hazen, Alexes
PMID: 32097358
ISSN: 1529-4242
CID: 4323342

Evoked and spontaneous pain assessment during tooth pulp injury

Rossi, Heather Lynn; See, Lily Pachanin; Foster, William; Pitake, Saumitra; Gibbs, Jennifer; Schmidt, Brian; Mitchell, Claire H; Abdus-Saboor, Ishmail
Injury of the tooth pulp is excruciatingly painful and yet the receptors and neural circuit mechanisms that transmit this form of pain remain poorly defined in both the clinic and preclinical rodent models. Easily quantifiable behavioral assessment in the mouse orofacial area remains a major bottleneck in uncovering molecular mechanisms that govern inflammatory pain in the tooth. In this study we sought to address this problem using the Mouse Grimace Scale and a novel approach to the application of mechanical Von Frey hair stimuli. We use a dental pulp injury model that exposes the pulp to the outside environment, a procedure we have previously shown produces inflammation. Using RNAscope technology, we demonstrate an upregulation of genes that contribute to the pain state in the trigeminal ganglia of injured mice. We found that mice with dental pulp injury have greater Mouse Grimace Scores than sham within 24 hours of injury, suggestive of spontaneous pain. We developed a scoring system of mouse refusal to determine thresholds for mechanical stimulation of the face with Von Frey filaments. This method revealed that mice with a unilateral dental injury develop bilateral mechanical allodynia that is delayed relative to the onset of spontaneous pain. This work demonstrates that tooth pain can be quantified in freely behaving mice using approaches common for other types of pain assessment. Harnessing these assays in the orofacial area during gene manipulation should assist in uncovering mechanisms for tooth pulp inflammatory pain and other forms of trigeminal pain.
PMID: 32066827
ISSN: 2045-2322
CID: 4313012

The Rate of Incidental Atypical and Malignant Breast Lesions in Reduction Mammoplasty Specimens

Genco, Iskender Sinan; Steinberg, Jordan; Caraballo Bordon, Beatriz; Tugertimur, Bugra; Dec, Wojciech; Hajiyeva, Sabina
AIMS/OBJECTIVE:Reduction mammoplasty (RM) is one of the most common plastic surgeries in the US. We aimed to demonstrate the rate of incidental atypical and malignant breast lesions (AMBL) found in RM specimens and the impact of the number of submitted tissue sections on the rate of ABL. METHODS AND RESULTS/RESULTS:We analyzed our database for patients who underwent reduction mammoplasty between 2000 and 2018. Patients with a history of breast cancer were excluded from the study. All pathology reports were analyzed for AMBL (ALH, LCIS, FEA, ADH, DCIS, invasive carcinoma). The grossing protocol was to submit ten sections from each breast between 2000 and 2013, and six sections between 2014 and 2018. One hundred and sixty-nine of 5208 patients (3.3%) and 216 of 10,340 RM specimens (2.1%) showed at least one AMBL. Nineteen (0.36%) patients had incidental cancer. The median age of patients with AMBL was significantly higher than patients without ABL (59 vs. 45 years old). There was no cancer in patients < 30 years old. The age-controlled rate of overall AMBL as well as atypia and cancer only did not decrease by submitting fewer sections during the 2014-2018 period compared to the 2010-2013 period. CONCLUSION/CONCLUSIONS:Decreasing the number of tissue sections from ten to six did not lead to a significant decrease in the rate of overall AMBL or cancer. Our data suggest that submitting six tissue sections from each breast for patients >30 years old and two sections from each breast for patients < 30 years old would be sufficient.
PMID: 32043273
ISSN: 1365-2559
CID: 4311482

Cranial Fossa Development in Differing Subtypes of Crouzon Syndrome

Lu, Xiaona; Forte, Antonio Jorge; Steinbacher, Derek M; Alperovich, Michael; Alonso, Nivaldo; Persing, John A
BACKGROUND:Based on an established classification system of Crouzon syndrome subtypes, detailed regional morphology and volume analysis may be useful, to clarify Crouzon cranial structure characteristics, and the interaction between suture fusion and gene regulated overall growth of the calvarium and basicranium. METHODS:CT scans of 36 unoperated Crouzon syndrome patients and 56 controls were included and subgrouped as: type I. Bilateral coronal synostosis; type II. Sagittal synostosis; type III. Pansynostosis; type IV. Perpendicular combination synostosis. RESULTS:Type I of Crouzon syndrome patients developed a slightly smaller posterior fossa (22%), and increased superior cranial volume (13%), which is the only subtype that develops a greater superior cranial volume. The effect of competing increased and decreased segmental volume is associated with a 24% enlargement of overall cranial volume (P = 0.321). In class III, the anterior fossa volume was increased by 31% (P = 0.007), while the volume of posterior fossa was decreased by 19% (P < 0.001). These resulted in a 7% (P = 0.046) reduction in the overall intracranial volume. Type II and type IV patients developed a trend toward anterior, middle, and posterior fossae, and entire cranial volume reduction. CONCLUSIONS:Pansynostosis is the most often form of associated craniosynostoses of Crouzon syndrome, however bilateral coronal synostosis may not dominate this form of Crouzon syndrome. The anterior, middle and posterior cranial fossae may have simultaneously reduced volume if the midline suture synostosis is involved. Individualized treatment planning for Crouzon syndrome patient, theoretically should include the patient's age and temporal associated maldevelopment suture sequence.
PMID: 32049910
ISSN: 1536-3732
CID: 4306342