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BACKGROUND: Adipofascial flaps (AFF) with acellular dermal matrix (ADM) have the potential to reconstruct neural tube defects without sacrificing muscle that may be critical for long-term function. Comparative studies between myocutaneous flap (MF) reconstruction, the accepted standard reconstructive technique, and AFF/ADM remain under-reported. The aim of this study was to evaluate the safety and efficacy of myelomeningocele reconstruction using muscle sparing AFF/ADM versus MF. METHODS: A retrospective comparison was conducted on consecutive myelomeningocele patients reconstructed with MF or AFF/ADM over an 84-month period. Data analyzed included: basic demographics, defect size, reconstructive technique, complications, and length of follow-up. A supplemental meta-analysis based on systematic review of literature was performed to compare alternative reconstructive options. RESULTS: Twelve patients were identified who met inclusion criteria. Median age, weight, and defect size at reconstruction in the AFF/ADM group (nâ=â6) was 37.5 weeks, 3.25âkg, and 20.0âcm, respectively, and in the MF group (nâ=â6) was 37 weeks, 3.6âkg, and 22.5âcm (Pâ>â0.5). For the AFF/ADM versus MF groups, median follow-up was 33.8 versus 22.6 months, reoperation rate was 0% versus 17% (Pâ=â1.0), and complex skin flap closure rate was 17% versus 100% (Pâ=â0.015). No cerebrospinal fluid leaks or surgical site infections occurred in either group. Meta-analysis of the literature revealed no statistically significant difference in complications rates between muscle and nonmuscle flap reconstruction (Pâ>â0.5); potential long-term sequelae of muscle flap harvest were not included. CONCLUSIONS: Muscle sparing AFF with ADM is a safe and effective surgical alternative to muscle flaps for lumbar myelomeningocele reconstruction.
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Dermis Acelular , Fascia/trasplante , Meningomielocele/cirugía , Colgajo Miocutáneo/trasplante , Procedimientos de Cirugía Plástica/métodos , Grasa Subcutánea/trasplante , Femenino , Estudios de Seguimiento , Humanos , Lactante , Vértebras Lumbares , Masculino , Músculo Esquelético/cirugía , Colgajo Miocutáneo/efectos adversos , Tratamientos Conservadores del Órgano , Procedimientos de Cirugía Plástica/efectos adversos , Reoperación , Estudios RetrospectivosRESUMEN
PURPOSE: Post-traumatic arthritis is common in long-term follow-up of patients undergoing hemi-hamate arthroplasty (HHA). We hypothesize that anatomic mismatch could play a role in the development of arthritis. The purpose of this study is to establish a novel, computed tomography (CT)-based imaging technique for pre-operative assessment in HHA. With this technique, our group aims to identify digits with a high likelihood for anatomical mismatch between the donor graft and recipient interphalangeal joint. Using this technique to eliminate cases with high-likelihood of incongruent anatomy, we hypothesize the rates of arthritis could be reduced. METHODS: We conducted a retrospective review of upper extremity CT scans from 2007 to 2014 at our institution. Those studies meeting our inclusion criteria were exported to a clinical radiology software suite. Subsequently, angular and linear measurements of the hamate and potential recipient proximal interphalangeal joints were collected. Angular and linear comparisons were then made between the donor hamate graft and the individual recipient sites. Using pre-established cutoff values, matches were deemed to be inconsistent or consistent. RESULTS: The study included 31 CT scans. The rate of anatomical consistency was low; the small finger was most often consistent (38.7 %) and the index finger was least often consistent (12.9 %). Linear inconsistency was common in all joints besides the small finger; angular inconsistency was most prevalent in the index and long fingers. CONCLUSIONS: This novel use of CT scans as a tool for pre-operative HHA planning is a crucial first step in trying to reduce the observed rates of arthritis after HHA.
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Artritis/prevención & control , Traumatismos de los Dedos/cirugía , Articulaciones de los Dedos/anatomía & histología , Hueso Ganchoso/anatomía & histología , Hemiartroplastia , Adolescente , Adulto , Anciano , Artritis/etiología , Femenino , Articulaciones de los Dedos/diagnóstico por imagen , Articulaciones de los Dedos/cirugía , Hueso Ganchoso/diagnóstico por imagen , Hemiartroplastia/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Técnicas de Planificación , Cuidados Preoperatorios , Periodo Preoperatorio , Estudios Retrospectivos , Donantes de Tejidos , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
BACKGROUND: Knowledge of topographic skin thickness is important to plastic surgery of the face as it may guide resection and restoration in oncologic, aesthetic, and reconstructive procedures. OBJECTIVE: The purpose of this study is to report the relative thickness of the face throughout 39 distinct subunits. METHODS: Full-thickness punch biopsy samples were obtained at 39 predetermined anatomic locations of the face from 10 human cadaveric heads. Tissue was fixed in paraffin-embedded slides and analyzed using triplicate measurement of dermis and epidermis using computerized measurements. Data were analyzed using univariate statistical analysis and expressed as mean thickness values and relative thickness (RT) values based on the thinnest portion of the face. RESULTS: The area of the face with the thickest dermis was the lower nasal sidewall (1969.2 µm, dRT: 2.59), and the thinnest was the upper medial eyelid (758.9 µm, dRT: 1.00). The area with the thickest epidermis was the upper lip (62.6 µm, eRT: 2.12), and the thinnest was the posterior auricular skin (29.6 µm, eRT: 1.00). Our results confirm that eyelid skin is the thinnest in the face. The thickest portions of the skin appeared to be in the lower nasal sidewall, but the measurements are comparable to those in the ala and posterior auricular skin, which are novel findings. CONCLUSIONS: The greatest epidermal, dermal and total skin thickness are found in the upper lip, right lower nasal sidewall, and left lower nasal sidewall respectively. The least epidermal skin thickness is in the posterior auricular skin. The least dermal skin thickness, and the least total skin thickness, are both in the upper medial eyelid.
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Epidermis/anatomía & histología , Cara/anatomía & histología , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Biopsia con Aguja , Cadáver , Femenino , Humanos , Masculino , Sensibilidad y Especificidad , Piel/anatomía & histologíaRESUMEN
Inactivation of SMAD4 has been linked to several cancers and germline mutations cause juvenile polyposis (JP). We set out to identify the promoter(s) of SMAD4, evaluate their activity in cell lines and define possible transcription factor binding sites (TFBS). 5'-rapid amplification of cDNA ends (5'-RACE) and computational analyses were used to identify candidate promoters and corresponding TFBS and the activity of each was assessed by luciferase vectors in different cell lines. TFBS were disrupted by site-directed mutagenesis (SDM) to evaluate the effect on promoter activity. Four promoters were identified, two of which had significant activity in several cell lines, while two others had minimal activity. In silico analysis revealed multiple potentially important TFBS for each promoter. One promoter was deleted in the germline of two JP patients and SDM of several sites led to significant reduction in promoter activity. No mutations were found by sequencing this promoter in 65 JP probands. The predicted TFBS profiles for each of the four promoters shared few transcription factors in common, but were conserved across several species. The elucidation of these promoters and identification of TFBS has important implications for future studies in sporadic tumors from multiple sites, and in JP patients.
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Poliposis Intestinal/genética , Regiones Promotoras Genéticas , Proteína Smad4/genética , Factores de Transcripción/metabolismo , Secuencia de Bases , Sitios de Unión , Línea Celular , Línea Celular Tumoral , Inmunoprecipitación de Cromatina , Desoxirribonucleasa I , Humanos , Datos de Secuencia Molecular , Mutagénesis Sitio-Dirigida , ARN/análisis , Empalme del ARN , Eliminación de SecuenciaRESUMEN
BACKGROUND: BMPR1A is a cell surface receptor in the bone morphogenetic protein (BMP) pathway. Mutations in BMPR1A predispose to juvenile polyposis (JP). Sp1 and related proteins are widely expressed regulators of gene transcription, including members of the BMP pathway. We set out to identify important transcription factor binding sites (TFBS) in the recently identified BMPR1A promoter and to assess for the role of Sp1 and associated proteins in its regulation. MATERIALS AND METHODS: The BMPR1A promoter was cloned into a luciferase reporter vector. Deletion fragments of this promoter insert were then constructed, of varying lengths and opposing directions, and were used to transfect HEK-293 and CRL-1459 cells. In silico analysis was performed to screen for relevant TFBS. Site-directed mutagenesis (SDM) was then employed to individually disrupt these TFBS in the wild-type (WT) vector. SDM constructs were then assessed for activity. RESULTS: Light activity from the deletion constructs ranged between 3% and 129% of the WT promoter. ModelInspector identified eight potential binding sites for Sp1- and Sp1-associated proteins that mapped to areas of marked loss or gain of activity from the deletion constructs. SDM of these TFBS led to a drop in activity in five mutants, which included 3 Sp1 sites, an ETSF site, and NFκB site. CONCLUSIONS: By combining in silico analysis and experimental data, Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A. This study potentially provides further insight toward the molecular basis of JP, and suggests that Sp1 plays a role in BMP signaling.
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Receptores de Proteínas Morfogenéticas Óseas de Tipo 1/genética , Factor de Transcripción Sp1/metabolismo , Transcripción Genética/fisiología , Secuencia de Bases , Colon/citología , Fibroblastos/citología , Regulación de la Expresión Génica/fisiología , Células HEK293 , Humanos , Luciferasas/genética , Datos de Secuencia Molecular , Mutagénesis Sitio-Dirigida , Regiones Promotoras Genéticas/fisiologíaRESUMEN
Reduction ascending aortoplasty has been advocated as a possible alternative to traditional graft replacement for treatment of aneurysms of the ascending aorta and root. We report a case of a 58-year-old Jehovah's Witness female, with a 5.5-cm ascending aortic aneurysm and critical aortic stenosis. She underwent aortic valve replacement and reduction aortoplasty buttressed with a Dacron graft. We reviewed the history and contemporary applications of this technique and concluded that aortic reduction with externally supported aortoplasty may represent a viable option to treat Jehovah's Witness patients with ascending aorta and root aneurysm.
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Aneurisma de la Aorta Torácica/cirugía , Prótesis Vascular/ética , Testigos de Jehová , Procedimientos de Cirugía Plástica/ética , Aneurisma de la Aorta Torácica/diagnóstico , Aneurisma de la Aorta Torácica/psicología , Transfusión de Sangre Autóloga/ética , Puente Cardiopulmonar/ética , Puente Cardiopulmonar/métodos , Ecocardiografía , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Tereftalatos Polietilenos , Diseño de Prótesis , Procedimientos de Cirugía Plástica/métodos , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Mutations in the RET proto-oncogene cause multiple endocrine neoplasia type 2A (MEN2A), and prophylactic thyroidectomy has generally been recommended before the age of 5 years. Patients with codon 609 mutations develop MTC at a later age and therefore the timing of prophylactic thyroidectomy is less clear. We report a three-generation family with C609Y RET mutation where members having prophylactic or therapeutic thyroidectomy call the current recommendations for age at thyroidectomy into question. METHODS: Sixteen family members underwent thyroidectomy, for which clinical, laboratory, and pathological data were analyzed. A literature review of RET codon 609 mutations was carried out. RESULTS: Data were collected from 16 patients from this 38-member kindred. None of these affected members had pheochromocytoma, and one had a parathyroid adenoma. Nine of 16 patients had MTC (mean age 44.7 years, range 29-59 years) and elevated basal calcitonin levels; 6 of these 9 had lymph node metastases. Two patients had C-cell hyperplasia (CCH) at ages 18 and 37 years, and five patients had normal thyroid pathology (mean age 16 years, range 5-37 years). In the literature, a family with C609Y mutation was reported, with 15 members having MTC (mean age 42 years, range 21-59 years), and 6 with CCH (mean age 24 years, range 15-37 years). CONCLUSION: The youngest patient with C609Y RET mutation and MTC was 21 years old, and the youngest patient with CCH was 15 years old at diagnosis. These data suggest that patients with RET C609Y mutations can delay thyroidectomy until 10-15 years of age, with annual calcitonin screening prior to thyroidectomy.
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Codón/genética , Neoplasia Endocrina Múltiple Tipo 2a/genética , Mutación/genética , Proteínas Proto-Oncogénicas c-ret/genética , Neoplasias de la Tiroides/genética , Tiroidectomía , Adenoma/genética , Adenoma/cirugía , Adolescente , Adulto , Biomarcadores/metabolismo , Calcitonina/metabolismo , Carcinoma Medular/genética , Carcinoma Medular/cirugía , Carcinoma Papilar/genética , Carcinoma Papilar/cirugía , Niño , Preescolar , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2a/cirugía , Linaje , Feocromocitoma/genética , Feocromocitoma/cirugía , Proto-Oncogenes Mas , Estudios Retrospectivos , Neoplasias de la Tiroides/cirugíaRESUMEN
We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease.
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Receptores de Proteínas Morfogenéticas Óseas de Tipo 1/genética , Codón sin Sentido , Neoplasias del Colon/genética , Poliposis Intestinal/genética , Preescolar , Cartilla de ADN , Familia , Femenino , Estudios de Seguimiento , Mutación de Línea Germinal , Humanos , Masculino , Linaje , Lesiones Precancerosas/genética , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
Since the histologic description of the hamartomatous polyp in 1957 by Horrilleno and colleagues, descriptions have appeared of several different syndromes with the propensity to develop these polyps in the upper and lower gastrointestinal tracts. These syndromes include juvenile polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the phosphatase and tensin homolog gene (PTEN) hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. This article reviews the clinical aspects, the molecular pathogenesis, the affected organ systems, the risks of cancer, and the management of these hamartomatous polyposis syndromes. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk.
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Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Predisposición Genética a la Enfermedad , Síndrome de Peutz-Jeghers , Diagnóstico Diferencial , Endoscopía Gastrointestinal , Humanos , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genética , Síndrome de Peutz-Jeghers/cirugía , PronósticoRESUMEN
Cutaneous burns associated with microscope-use are perceived to be uncommon adverse events in microsurgery. Currently, it is unknown what factors are associated with these iatrogenic events. In this report, we describe the case of a 1-year-old patient who suffered a full thickness skin burn from a surgical microscope after a L4-S1 laminectomy. Additionally, we present a systematic review of the literature that assessed the preoperative risk, outcome, and management of iatrogenic microscope skin burns. Lastly, a summary of the Food and Drug Administration's (FDA) Manufacturer and User Facility Device Experience (MAUDE) database of voluntary adverse events was reviewed and analyzed for clinical cases of microscope thermal injuries. The systematic literature review identified only seven articles related to microsurgery-related cutaneous burns. From these seven studies, 15 clinical cases of iatrogenic skin burns were extracted for analysis. The systematic review of the FDA MAUDE database revealed only 60 cases of cutaneous burns associated with surgical microscopes since 2004. Few cases of microscope burns have been described in the literature; this report is, to our knowledge, one of the first comprehensive reports of this iatrogenic event in the literature.
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Quemaduras/etiología , Enfermedad Iatrogénica , Lipoma/cirugía , Meningomielocele/cirugía , Microscopía/instrumentación , Equipo Quirúrgico/efectos adversos , Procedimientos Quirúrgicos de Citorreducción , Femenino , Humanos , Lactante , Laminectomía , Lipoma/diagnóstico por imagen , Región Lumbosacra , Imagen por Resonancia Magnética , Meningomielocele/diagnóstico por imagen , Canal MedularRESUMEN
INTRODUCTION: The anatomy of the facial artery, its tortuosity, and branch patterns are well documented. To date, a reliable method of identifying the facial artery, based on surface landmarks, has not been described. The purpose of this study is to characterize the relationship of the facial artery with several facial topographic landmarks, and to identify a location where the facial artery could predictably be identified. METHODS: Following institutional review board approval, 20 hemifacial dissections on 10 cadaveric heads were performed. Distances from the facial artery to the oral commissure, mandibular angle, lateral canthus, and Manson's point were measured. Distances were measured and confirmed clinically using Doppler examination in 20 hemifaces of 10 healthy volunteers. RESULTS: Manson's point identifies the facial artery with 100% accuracy and precision, within a 3 mm radius in both cadaveric specimens and living human subjects. Cadaveric measurements demonstrated that the facial artery is located 19 mm ± 5.5 from the oral commissure, 31 mm ± 6.8 from the mandibular angle, 92 mm ± 8.0 from the lateral canthus. Doppler examination on healthy volunteers (5 male, 5 female) demonstrated measurements of 18 mm ± 4.0, 50 mm ± 6.4, and 79 mm ± 8.2, respectively. CONCLUSIONS: The identification of the facial artery is critical for the craniofacial surgeon in order to avoid inadvertent injury, plan for local flaps, and in preparation of a recipient vessel for free tissue microvascular reconstruction. Manson's point can aid the surgeon in consistently indentifying the facial artery.
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Puntos Anatómicos de Referencia , Arterias/anatomía & histología , Cara/irrigación sanguínea , Músculos Faciales/irrigación sanguínea , Anciano , Anciano de 80 o más Años , Cadáver , Disección/métodos , Cara/cirugía , Femenino , Humanos , Masculino , Procedimientos de Cirugía Plástica/métodosRESUMEN
BACKGROUND: Between 10% and 20% of patients with neuroendocrine tumors (NETs) present with metastases of unknown primary site. Because knowledge of the primary site has important implications for treatment, we set out to define gene-expression profiles to differentiate between small-bowel NETs (SBNETs) and pancreatic NETs (PNETs). METHODS: RNA was extracted from tumor and normal tissues in 11 patients with SBNETs and 15 patients with PNETs, and qPCR was performed for 367 GPCR genes. Differentially expressed genes were identified using the RT2 Profiler. Whole genome expression analysis was performed on 11 SBNETs, 5 PNETS, and corresponding normal tissues. Statistical significance was evaluated by the Student t test and ANOVA. RESULTS: Whole-genome analysis revealed 173 significantly differentially expressed genes in SBNETs and normal tissues and in 52 in PNETs. GPCR arrays identified 28 genes in SBNETs and 18 in PNETs, with significant expression differences from normal tissues. In all SBNETs, 2 genes were significantly upregulated by more than fivefold: OXTR and GPR113. No PNETs shared this profile, whereas 73% had a greater than fivefold downregulation of ADORA1 and SCTR. These genes also allowed for determination of the primary site in 8 of 10 liver metastases. CONCLUSION: Differential expression patterns using as few as 2 to 4 GPCR genes successfully discriminated primary sites in small bowel and pancreatic NETs.