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1.
Ann Plast Surg ; 89(4): 431-436, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-36149983

RESUMO

BACKGROUND: Gender dysphoria is a condition that often leads to significant patient morbidity and mortality. Although gender-affirming surgery (GAS) has been offered for more than half a century with clear significant short-term improvement in patient well-being, few studies have evaluated the long-term durability of these outcomes. METHODS: Chart review identified 97 patients who were seen for gender dysphoria at a tertiary care center from 1970 to 1990 with comprehensive preoperative evaluations. These evaluations were used to generate a matched follow-up survey regarding their GAS, appearance, and mental/social health for standardized outcome measures. Of 97 patients, 15 agreed to participate in the phone interview and survey. Preoperative and postoperative body congruency score, mental health status, surgical outcomes, and patient satisfaction were compared. RESULTS: Both transmasculine and transfeminine groups were more satisfied with their body postoperatively with significantly less dysphoria. Body congruency score for chest, body hair, and voice improved significantly in 40 years' postoperative settings, with average scores ranging from 84.2 to 96.2. Body congruency scores for genitals ranged from 67.5 to 79 with free flap phalloplasty showing highest scores. Long-term overall body congruency score was 89.6. Improved mental health outcomes persisted following surgery with significantly reduced suicidal ideation and reported resolution of any mental health comorbidity secondary to gender dysphoria. CONCLUSION: Gender-affirming surgery is a durable treatment that improves overall patient well-being. High patient satisfaction, improved dysphoria, and reduced mental health comorbidities persist decades after GAS without any reported patient regret.


Assuntos
Disforia de Gênero , Cirurgia de Readequação Sexual , Pessoas Transgênero , Transexualidade , Seguimentos , Disforia de Gênero/cirurgia , Humanos , Pessoas Transgênero/psicologia , Transexualidade/psicologia
2.
Ann Plast Surg ; 82(6S Suppl 5): S433-S436, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30557188

RESUMO

BACKGROUND: Untreated or undertreated burns are commonly encountered by plastic surgeons on medical trips in India and represent a major cause of disability. We sought to utilize validated patient-reported outcomes instruments to identify the patient population with the greatest burn-related disability in order to appropriately allocate plastic surgery resources to those in greatest need. METHODS: The Quick Disability of the Arm, Shoulder, and Hand, RAND 36-Item Short Form Health Survey, and Burn-Specific Health Scale-Revised, Brief, and Adapted questionnaires were administered via an interpreter during a plastic surgery trip to Jharkhand, India, in January 2018. Demographics, comorbidities, and burn-specific history were recorded. RESULTS: Twenty-eight postburn patients were surveyed (mean age, 17.0 ± 9.2 years; male:female ratio, 1:2.5). Mean time from injury was 4.74 years. No patient had received formal, primary burn care. Mechanism of injury: flame (39%), oil (32%), scalding water (14%), and other (14%). Fifty-four percent were extremity burns; 25%, facial; and 18%, neck burns. The Burn-Specific Health Scale-Revised, Brief, and Adapted demonstrated that the most significantly impacted domains for all patients were body image and skin sensitivity, with more than 80% of patients complaining of issues with skin sensitivity. In addition, children (aged <18 years) had diminished body image domain scores. RAND SF-36 scores were lowest in the energy (73.1 ± 25.0) and general health (76.5 ± 13.8) domains, and females with extremity burns demonstrated statistically significant decreases in their physical limitation domain scores (85.9 ± 17.3, P < 0.05). Females with extremity burns also had statistically significant lower scores in the energy domain (64.09 ± 25.75) as compared with their male counterparts with extremity burns (100 ± 0, P = 0.045). In general, females scored lower than did males in multiple domains, and those results reached statistical significance in the energy (65.9 ± 24.6 vs 93.6 ± 10.9), emotional (77.2 ± 21.5 vs 95.4 ± 11.2), and general health domains (71.1 ± 11.9 vs 90.0 ± 7.5) with P < 0.05. Children demonstrated significantly diminished scores in the emotional (75.5 ± 24.6) and general health (79.1 ± 11.8) domains. CONCLUSION: These data demonstrate the significant impact on quality of life that untreated burns have in this population. Male and female children with extremity burns and adult women with extremity burns were most significantly affected in multiple domains. Consequently, children and adult women with extremity burns appear to be the patient cohort with the greatest opportunity to impact their quality of life. These data may be utilized to improve patient triage and resource allocation for future surgical trips but could also be of significant benefit to internal health agencies and ministries for the same purpose.


Assuntos
Queimaduras/reabilitação , Pessoas com Deficiência/psicologia , Qualidade de Vida/psicologia , Índice de Gravidade de Doença , Sobreviventes/psicologia , Adolescente , Adulto , Imagem Corporal , Queimaduras/complicações , Queimaduras/psicologia , Avaliação da Deficiência , Traumatismos Faciais/etiologia , Feminino , Humanos , Índia , Masculino , Medidas de Resultados Relatados pelo Paciente , Adulto Jovem
3.
Ann Plast Surg ; 76(3): 346-8, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25695459

RESUMO

INTRODUCTION: Abdominoplasty was the third most common cosmetic surgical procedure in 2012. The umbilicus is transposed within the abdominal skin flap during this procedure. Few studies address the size and location of the umbilicus with precise measurements as well as those that do report on a heterogeneous population. The goal of our study was to determine the average size and position of the ideal umbilicus by limiting the study to young men and women of normal body habitus. METHODS: Subjects were recruited in a University of Virginia Institutional Review Board-approved study. Demographics of the subjects were recorded. Each subject's umbilicus was assessed for height, width, and position relative to existing landmarks. RESULTS: Eighty subjects met the inclusion criteria: 43 women and 37 men. Most of the subjects were white (72.5%). The mean ± SD BMI was 22.4 ± 2.5 kg/m. The mean ± SD height and width of the umbilicus was 2.1 ± 0.6 cm and 2.3 ± 0.7 cm, respectively. The umbilicus was located at a mean ± SD of -0.7 ± 1.3 cm in relation to the iliac crest (crest at zero). There were differences seen in the position between men and women. There were no statistical differences in measurements between the races. CONCLUSION: Our study serves as a guide for umbilical positioning with mean measurements for men and women, and categorized by sex and race.


Assuntos
Umbigo/anatomia & histologia , Abdominoplastia , Adolescente , Adulto , Etnicidade , Feminino , Humanos , Masculino , Tamanho do Órgão , Valores de Referência , Fatores Sexuais , Umbigo/cirurgia , Virginia , Adulto Jovem
4.
Aesthet Surg J ; 36(1): NP6-13, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26590197

RESUMO

Cryolipolysis is a noninvasive technique for the reduction of subcutaneous adipose tissue by controlled, localized cooling, causing adipocyte apoptosis, reportedly without affecting surrounding tissue. Although cryolipolysis has a low incidence of adverse side effects 33 cases of paradoxical adipose hyperplasia (PAH) have been reported and the precise pathogenesis of PAH is poorly understood. This present case study of PAH aims to characterize the pathological changes in the adipose tissue of PAH on a cellular level by using multiple different assays [hematoxy lin and eosin staining, LIVE/DEAD staining, BODIPY(®) 558/568 C12 (4,4-Difluoro-5-(2-Thienyl)-4-Bora-3a,4a-Diaza-s-Indacene-3-dodecanoic acid) staining]. to identify the underlying mechanism of PAH and reduce the prevalence of PAH in the future. Tissue with PAH had fewer viable cells, significantly decreased quantities of interstitial cells (p = 0.04), and fewer vessels per adipose tissue area when compared to the control tissue. Adipocytes from the PAH tissue were on average slightly smaller than the control adipocytes. Adipocytes of PAH tissue had irregularly contoured edges when compared to the smooth, round edges of the control tissue. These findings from a neutral third party are contrary to prior reports from the inventors of this technique regarding effects of cryolipolysis on both the microvasculature and interstitial cells in adipose tissue. Our use of different assays to compare cryolipolysis-treated PAH tissue with untreated adipose tissue in the same patient showed adipose tissue that developed PAH was hypocellular and hypovascular. Contrary to prior reports from the inventors, cryolipolysis may cause vessel loss, which could lead to ischemia and/or hypoxia that further contributes to adipocyte death. LEVEL OF EVIDENCE 5: Risk.


Assuntos
Crioterapia/efeitos adversos , Gordura Subcutânea/patologia , Adipócitos/patologia , Adipócitos/ultraestrutura , Sobrevivência Celular , Feminino , Humanos , Hiperplasia/etiologia , Hiperplasia/patologia , Microscopia Confocal , Pessoa de Meia-Idade , Coloração e Rotulagem , Gordura Subcutânea/ultraestrutura
5.
Ann Plast Surg ; 72(6): S90-3, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24691322

RESUMO

INTRODUCTION: Cleft palate is a relatively common deformity with various techniques described for its repair. Most techniques address the hard palate portion of the cleft with bilateral mucoperiosteal flaps transposed to the midline. This results in superimposed, linear closure layers directly over the cleft and may predispose the repair to oronasal fistula formation. This report details an alternative technique of flap rotation with an outcome analysis. METHODS: A retrospective chart analysis was performed of all patients having undergone primary palatoplasty for cleft palate. Demographics and cleft Veau type were recorded. Postoperative speech outcomes were assessed by standardized speech evaluation performed by 2 speech language pathologists. The presence and location of oronasal fistulae was assessed and recorded by the surgeon and speech language pathologists in follow-up evaluations. RESULTS: The study revealed an overall incidence of velopharyngeal insufficiency of 5.7% using this surgical technique. It also revealed a fistula rate of 8.6%. Secondary surgery has been successful in those patients in which it was indicated. Eleven (31%) patients were diagnosed with Robin sequence. CONCLUSIONS: This technique demonstrates excellent early outcomes in a difficult subset of cleft patients including a high proportion of those with Pierre Robin sequence. The technique addresses the inherent disadvantages to a linear closure over the bony cleft. The variability in its design provides the surgeon another option for correction of this deformity.


Assuntos
Fissura Palatina/cirurgia , Procedimentos Cirúrgicos Bucais/métodos , Palato Duro/cirurgia , Retalhos Cirúrgicos , Adulto , Fissura Palatina/complicações , Humanos , Fístula Bucal/epidemiologia , Procedimentos Cirúrgicos Bucais/efeitos adversos , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/cirurgia , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Rotação , Insuficiência Velofaríngea/epidemiologia
7.
J Craniofac Surg ; 25(2): 563-7, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24514889

RESUMO

Temporal hollowing is most frequently an acquired defect and can be caused by a volumetric deficiency of bone, soft tissue, or both. Given high-density porous polyethylene's ease of use, customizability, long-term strength and resiliency, and successful application in other areas of the craniofacial skeleton, the authors have used it as the first-line material for reconstruction of temporal hollowing. Herein, we present 4 illustrative cases demonstrating this technique and further describe subtypes of the temporal defect with appropriate means of reconstruction. The cases were reviewed for comorbidities, intraoperative details, and the postoperative course. There were no complications, and all patients were pleased with their final result. High-density porous polyethylene is a safe, well-studied, and easily handled biomaterial that is useful for the treatment of temporal hollowing.


Assuntos
Materiais Biocompatíveis/química , Procedimentos de Cirurgia Plástica/instrumentação , Polietileno/química , Osso Temporal/cirurgia , Músculo Temporal/cirurgia , Adenocarcinoma/cirurgia , Doenças Ósseas/cirurgia , Desenho Assistido por Computador , Craniotomia/métodos , Craniotomia/reabilitação , Feminino , Osso Frontal/lesões , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Aneurisma Intracraniano/cirurgia , Masculino , Pessoa de Meia-Idade , Doenças Musculares/cirurgia , Planejamento de Assistência ao Paciente , Procedimentos de Cirurgia Plástica/métodos , Neoplasias da Base do Crânio/cirurgia , Fraturas Cranianas/cirurgia , Osso Temporal/lesões , Tomografia Computadorizada por Raios X/métodos
8.
J Craniofac Surg ; 24(4): 1314-6, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23851796

RESUMO

Cerebrospinal fluid (CSF) fistulae are problematic because of the high risk of meningitis and other infectious complications, as well as the potential for critically delaying chemotherapy in cases associated with malignancy. The plastic surgical literature suggests vascularized autologous tissue for the treatment of chronically draining CSF fistulae. Many of these patients, however, are debilitated, have multiple comorbidities, and may have a limited life expectancy, making the lengthy surgery and the associated donor-site morbidity of a regional or free tissue transfer procedure unattractive. There is a need for an alternative procedure that is a less morbid, yet equally effective solution for the obliteration of CSF fistulae. Herein we report the first use of acellular dermal matrix to successfully seal a persistent cranial CSF fistula.


Assuntos
Derme Acelular , Vazamento de Líquido Cefalorraquidiano/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Transplante de Pele/métodos , Abscesso Encefálico/etiologia , Neoplasias Encefálicas/cirurgia , Craniotomia/efeitos adversos , Cianoacrilatos/uso terapêutico , Drenagem/métodos , Fasciotomia , Glioblastoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Reoperação , Infecção da Ferida Cirúrgica/etiologia , Técnicas de Sutura , Adesivos Teciduais/uso terapêutico , Resultado do Tratamento
9.
Ann Plast Surg ; 60(5): 559-61, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18434831

RESUMO

The University of Virginia recently celebrated 50 years of plastic surgery history. Past and present chairmen were honored by the department and previous residents. Accomplishments by our department, faculty, and residents have come in areas of national leadership, education, research, and patient care. The tradition of excellence in plastic surgery continues by building upon the strong history of the department.


Assuntos
Centros Médicos Acadêmicos/história , Cirurgia Plástica/história , História do Século XX , História do Século XXI , Humanos , Cirurgia Plástica/organização & administração , Virginia
10.
J Craniofac Surg ; 19(4): 933-41, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18650715

RESUMO

Pediatric patients account for approximately one third of all burn patients in the United States, with upper extremity or hand involvement in most admitted burn patients. Specialized management and care of pediatric burn patients optimizes functional outcomes. Common mechanisms of injury are discussed. Acute and long-term care aspects of pediatric upper extremity and hand burns require unique considerations. Diagnosis, treatment, and management of upper extremity and hand burns are discussed in detail with respect to the pediatric population.


Assuntos
Traumatismos do Braço/terapia , Queimaduras/terapia , Contratura/terapia , Traumatismos da Mão/terapia , Adolescente , Traumatismos do Braço/etiologia , Traumatismos do Braço/reabilitação , Queimaduras/complicações , Queimaduras/reabilitação , Criança , Pré-Escolar , Contratura/etiologia , Contratura/reabilitação , Traumatismos da Mão/etiologia , Traumatismos da Mão/reabilitação , Humanos , Lactente , Pediatria , Triagem/métodos
11.
Arch Plast Surg ; 42(2): 159-63, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25798386

RESUMO

BACKGROUND: Interest in global health and international mission trips among medical student and resident trainees is growing rapidly. How these electives and international mission experiences affect future practice is still being elucidated. No study has identified if participation in international surgical missions during residency is a predictor of participation in international surgical missions in practice after training completion. METHODS: All trainees of our plastic surgery residency program from 1990 to 2011, during the implementation of optional annual international surgical missions, were surveyed to determine if the graduate had gone on a mission as a resident and as a plastic surgeon. Data were compared between graduates who participated in missions as residents and graduates who did not, from 1990 to 2011 and 1990 to 2007. RESULTS: Of Plastic Surgery graduates from 1990 to 2011 who participated in international missions as residents, 60% participated in missions when in practice, versus 5.9% of graduates participating in missions in practice but not residency (P<0.0001). When excluding last 5 years, graduates participating in international missions in practice after doing so as residents increases to 85.7%, versus 7.41% who participate in practice but not residency P<0.002. CONCLUSIONS: Results reveal plastic surgeons who participate in international surgical missions as residents participate in international surgical missions in practice at higher rates than graduates who did not participate in missions during residency. International missions have significant intrinsic value both to trainee and international communities served, and this opportunity should be readily and easily accessible to all plastic surgery residents nationwide.

12.
Am Surg ; 69(9): 733-42; discussion 742-3, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14509319

RESUMO

The reconstruction of massive midline abdominal wall defects as a result of intra-abdominal catastrophes has long challenged the reconstructive surgeon. Previously, the lack of autogenous tissue often forced the surgeon to resort to synthetic materials, which may be complicated by adhesions, enterocutaneous fistulas, and infection. The introduction of the "components of anatomic separation" technique by Ramirez et al. in 1990 allowed for autogenous reconstruction using bipedicle rectus flaps. This technique was far superior to any previous option, but it had its limitations. The authors report a modification to the component separation technique which may allow larger defects to be closed as well as diminish the weakness left below the arcuate line found in some of the previously reported techniques. Ten patients are discussed for which this modified technique of component separation was employed. The follow-up ranges from 5 weeks to 53 months.


Assuntos
Celulite (Flegmão)/etiologia , Hérnia Ventral/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Adulto , Seguimentos , Humanos , Complicações Pós-Operatórias , Técnicas de Sutura , Resultado do Tratamento
13.
Plast Reconstr Surg ; 110(2): 572-85; quiz 586; discussion 587-8, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12142679

RESUMO

Mulliken and Glowacki categorized vascular anomalies as either hemangiomas or malformations, with the former being the most common tumor of infancy. Despite distinct clinical, radiologic, and histologic findings, the two major types of vascular lesions are often confused. This complicates both patient care and interpretation of the medical literature. A thorough understanding of the presentation, natural history, treatment, and complications of vascular tumors (hemangiomas) and vascular malformations is essential to their proper management. A comprehensive review outlining the diagnosis and treatment of hemangiomas in presented.


Assuntos
Malformações Arteriovenosas/terapia , Hemangioma/terapia , Neoplasias Cutâneas/terapia , Pele/irrigação sanguínea , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Hemangioma/complicações , Hemangioma/diagnóstico , Humanos , Lactente , Masculino , Remissão Espontânea , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico
14.
J Long Term Eff Med Implants ; 14(3): 177-84, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15301662

RESUMO

Successful surgical management of obstructive sleep apnea (OSAS) requires a thorough understanding of the pathophysiology and anatomical contributions to this widely variable disease. Early efforts to surgically correct OSAS involved bypassing the upper airway; thus, indirectly improving the symptoms without directly addressing the pathophysiology. Surgical procedures to treat OSAS have evolved over the past several decades as further understanding of the disease continues to be elicited. The surgical techniques employed in the treatment of OSAS are quite varied. Many surgical subspecialties have contributed to the understanding of the complexities of OSAS. Recent surgical management involves site-specific alterations of the upper airway to more directly address the disease process. In addition, current literature suggests an algorithmic and phased approach to the treatment of OSAS. Future technology offers the hope of better diagnostic and therapeutic options for the surgical management of OSAS.


Assuntos
Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/cirurgia , Úvula/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Bucais , Palato Mole/cirurgia , Polissonografia , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
15.
Aesthet Surg J ; 24(4): 307-11, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-19336170

RESUMO

A thorough understanding of the pathophysiology of lidocaine metabolism is an important prerequisite to minimizing the risk of morbidity and mortality associated with lipoplasty. Although the tumescent technique has greatly improved the safety of large-volume lipoplasty through decreased blood loss and reduced anesthetic needs, it has introduced the possibility for lidocaine toxicity. Because lidocaine is metabolized by the cytochrome P450 system, the potential for drug interactions is heightened. These drug interactions are implicated as a cause of lidocaine toxicity. A comprehensive review of the patient's preoperative, intraoperative, and postoperative medication profile is critical to perioperative patient safety.

16.
Burns ; 40(1): 157-63, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23850364

RESUMO

BACKGROUND: In low- and middle-income countries burn injuries remain responsible for a large burden of death and disability. Given an annual worldwide incidence of almost 11 million new individuals affected per year, major burn injuries have a higher annual incidence than HIV and tuberculosis combined. METHODS: A survey instrument was adapted for use as an international assessment tool and then used to measure the availability of personnel, materials, equipment, medicines, and facility resources in nine Rwandan hospitals, including three referral centers. RESULTS: Forty-four percent of surveyed hospitals had a dedicated acute-care burn ward, while two-thirds had intensive care options. Relevant wound-care supplies were widely available, but gaps in the availability of critical pieces of equipment such as monitors, ventilators, infusion pumps, electrocautery, and dermatomes were discovered in many of the surveyed institutions, including referral hospitals. Early excision and grafting were not performed in any of the hospitals and there were no physicians with specialty training in burn care. CONCLUSIONS: Whereas all surveyed hospitals were theoretically equipped to handle the initial resuscitation of burn patients, none of the hospitals were capable of delivering comprehensive care due to gaps in equipment, personnel, protocols, and training. Accordingly, steps to improve capacity to care for those with thermal injury should include training of physicians specialized in critical care and trauma surgery, as well as plastic and reconstructive surgery. Consideration should be given to creation of national referral centers specializing in burn care.


Assuntos
Unidades de Queimados/estatística & dados numéricos , Queimaduras/terapia , Competência Clínica/estatística & dados numéricos , Mão de Obra em Saúde/estatística & dados numéricos , Hospitais/estatística & dados numéricos , África Subsaariana , Necessidades e Demandas de Serviços de Saúde , Hospitais/provisão & distribuição , Humanos , Unidades de Terapia Intensiva/estatística & dados numéricos , Ruanda , Centros de Atenção Terciária/estatística & dados numéricos
19.
Ann Plast Surg ; 59(5): 581-90, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17992156

RESUMO

Silicone gel implants have been widely used for breast augmentation and reconstruction since the 1960s. Several alterations to both elastomer shell and filler gel have been made over the years to improve their ability to replicate the natural breast and to decrease the incidence of capsular contracture. The latter is a pathologic process involving the periprosthetic tissues formed in response to the presence of the implant. When severe, capsular contracture may cause firmness, distortion, and pain. In response to many claims of implant-related connective tissue disease, the US Food and Drug Administration placed a moratorium in 1992 on silicone gel breast implants for cosmetic purposes. Despite a preponderance of scientific data to their safety, silicone gel implants are presently available in the United States only as part of limited clinical trials. They continue to be used in Europe and other parts of the world.


Assuntos
Implante Mamário/métodos , Implantes de Mama/efeitos adversos , Mamoplastia/métodos , Procedimentos de Cirurgia Plástica/métodos , Géis de Silicone/efeitos adversos , Silicones/efeitos adversos , Silicones/química , Doenças Autoimunes/terapia , Mama/patologia , Feminino , Humanos , Próteses e Implantes , Falha de Prótese , Resultado do Tratamento
20.
J Craniofac Surg ; 15(3): 431-5; discussion 436-8, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15111803

RESUMO

Fibroblast growth factor receptor mutations are associated with and, in fact, cause most syndromes presenting with craniosynostosis. This knowledge has resulted in a shift in the paradigm of suture fusion causation; it was thought previously that abnormal tensional forces arising in the cranial base caused fusion of the vault sutures, but it is now understood that aberrant intercellular signaling in the developing skull leads to abnormal suture morphogenesis. Although the mutations associated with these syndromes are known and the phenotypic consequences are well documented, the pathway from mutation to phenotype has yet to be elucidated. Surgical reconstruction is the primary treatment of craniofacial abnormalities associated with craniosynostotic syndromes such as Crouzon syndrome. In many cases, calvarial vault reshaping is dependent on the quality of the autologous bone available; however, the bone of patients with craniosynostosis syndrome is often more brittle, thinner, and less robust than cranial bone from nonaffected donors. The relation between syndromic craniosynostoses and this bone has not been previously described. In this study, the osteon and blood vessel diameters of calvarial bone from patients with Crouzon syndrome and age- and sex-matched normal calvarial bone are measured. Statistical analysis demonstrates a quantitative and significant difference in the blood vessel diameter but not in the osteon diameter. This finding could be a result of abnormal blood vessel development caused by the fibroblast growth factor receptor mutation occurring before and coincident with bone formation and leading to weakened and fragile bone tissue.


Assuntos
Disostose Craniofacial/genética , Mutação/genética , Receptores de Fatores de Crescimento de Fibroblastos/genética , Crânio/irrigação sanguínea , Vasos Sanguíneos/patologia , Estudos de Casos e Controles , Suturas Cranianas/anormalidades , Suturas Cranianas/patologia , Disostose Craniofacial/patologia , Craniossinostoses/genética , Craniossinostoses/patologia , Ósteon/irrigação sanguínea , Ósteon/patologia , Humanos , Fenótipo , Transdução de Sinais/genética , Crânio/patologia
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