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1.
J Craniofac Surg ; 34(3): e275-e277, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-36907922

RESUMO

Smaller operative exposures associated with suturectomy for craniosynostosis may result in difficulties visualizing the prematurely fused suture during surgery. The authors report cases of suturectomy for lambdoid and metopic craniosynostosis in which neuronavigation or frameless stereotaxy was used to assist with incision planning and intraoperative localization of the fused suture. In both cases, neuronavigation integrated easily and safely into established workflows and was associated with complete suture release. To our knowledge, this is the first report of applying this noninvasive technology, which does not require cranial pinning or rigid fixation, to suturectomy, and the authors demonstrate its use as an adjunct, especially for surgeons beginning in practice. Larger studies are needed to determine if neuronavigation in suturectomy is associated with a clinically significant reduction in blood loss or operative time or an increase in the rate of complete suturectomy.


Assuntos
Craniossinostoses , Neuronavegação , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Crânio/cirurgia , Suturas Cranianas/cirurgia
2.
Plast Reconstr Surg Glob Open ; 10(10): e4594, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36262679

RESUMO

Harlequin ichthyosis (HI) is a rare congenital skin disorder caused by irregular epidermal differentiation. Syndactyly in HI is associated with thick hyperkeratotic skin flexion and angulation deformity of the hand and fingers resulting in limited function of the upper extremity. Traditional syndactyly release is limited as full-thickness skin grafts typically used in reconstruction are composed of diseased skin and require donor sites in a patient predisposed for adverse wound healing. This case report is a follow-up to a previous viewpoint written about digital escharotomies in a newborn with HI and outlines a second and fourth webspace syndactyly release with a dermal substitute. Despite early evidence of adequate release and improved hand function, recurrence of syndactyly was observed within 4 months of surgical release. Our experience described within this case report may suggest the limitations and possible alternatives of surgical release of syndactyly in the HI population.

3.
Plast Reconstr Surg Glob Open ; 10(10): e4526, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36262683

RESUMO

This study aimed to compare operative time, blood loss, and transfusion requirement in patients receiving a high tranexamic acid (TXA) dose of greater than 10 mg/kg versus those receiving a low dose of 10 mg/kg or less. Methods: PubMed, Cochrane Central, and Embase were queried to perform a systematic review with meta-analysis. Studies reporting outcomes of TXA use in craniosynostosis surgery were included. TXA dosing, operative time, blood loss, and transfusion requirement were the primary outcomes studied. Other variables studied included age and types of craniosynostosis. Results: In total, 398 individuals in the included articles received TXA for craniosynostosis surgery. TXA loading doses ranged from 10 mg/kg to 50 mg/kg. Overall, administration of TXA was not associated with changes in operative time, but was associated with decreased blood loss and transfusion requirement on meta-analysis. Comparison of high dose TXA (>10 mg/kg) versus low dose (10 mg/kg or less) showed no statistical differences in changes in operative time, blood loss, or transfusion requirement. Conclusions: Overall, TXA reduced blood loss and transfusion requirement in patients undergoing surgery for craniosynostosis. There was no difference in outcomes between high dose and low dose regimens amongst those receiving TXA. Low dose TXA appears adequate to achieve clinical efficacy with a low adverse event rate.

4.
J Craniofac Surg ; 33(5): 1294-1298, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36041136

RESUMO

ABSTRACT: With the increase in the elderly population in the United States, the number of people seeking care for trauma injuries is expected to increase. However, nationwide studies on epidemiological profile of elderly facial fractures remain sparse. The authors present the epidemiological measures of elderly facial fractures on national scale. Characteristics of facial fractures among younger adults (18-64 years old) and the elderly population (65-74 years old, 75-84 years old and 85 years and above) have been examined using the 2016 American College of Surgeons-Trauma Quality Improvement Program databank. Variables studied included facial fracture patterns, mechanisms of injury, treatment variables, and demographic descriptive data. Of 104,183 elderly trauma patients, 3415 presented with facial fractures, making up 3.3% (versus 6.5% in younger adults). Majority of facial fractures in 85 and over group (60.7%) were experienced by females, compared to only 19.5% in the younger adult group. Most common mechanism of injury in the elderly was falls, versus motor vehicle trauma in younger adults. The most common type of facial fractures among both groups were nasal fractures. Elderly patients presented with fewer zygoma, mandibular and nasal fractures when compared to younger adults, whereas showing more maxillary/malar and orbital bone fractures. Elderly patients experienced less operative management (4.3%-8.2%) compared to younger adults (15.6%). Concurrently, mortality rates were higher in the elderly patients (9.9%-11.8%) when compared to the younger adults (8.0%). Elderly patients presented with different causes of injury, distribution of fractures, and rates of operative management compared to younger adults.


Assuntos
Ossos Faciais , Fraturas Cranianas , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Ossos Faciais/lesões , Ossos Faciais/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Melhoria de Qualidade , Fraturas Cranianas/epidemiologia , Fraturas Cranianas/cirurgia , Estados Unidos/epidemiologia , Adulto Jovem
5.
J Craniofac Surg ; 32(2): 559-563, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33704980

RESUMO

BACKGROUND: Trauma involving the facial bones has been shown to be associated with high severity in previous studies. Characteristics of facial fractures in adults have been well described in the adult population, less so in the pediatric literature. Our investigation aims to define these epidemiological measures and risk factors for poor outcomes using the most recent data. METHODS: The 2016 Trauma Quality Improvement Program data bank was examined to study facial fracture pattern, mechanism of injury, and demographic descriptive data to characterize pediatric trauma patients. Multivariable regression analysis was performed to assess risk factors for morbidity and mortality in pediatric facial fracture patients. RESULTS: Of 51,168 total pediatric trauma patients, 2917 (5.7%) presented with facial fractures. Motor vehicle trauma was the most common mechanism of injury. Maxillary/malar fractures was the most common fracture type overall. Mandibular fractures were most common in the 0 to 1 age category while nasal bone fractures were more common in older patients. Patients with mandible fractures experienced the highest rate of operative management. Zygoma fracture was highly associated with concomitant traumatic brain injury. Multivariable regression analysis showed that fracture of the zygoma, concomitant traumatic brain injury, and cervical spine injury were risk factors for increased mortality. CONCLUSION: Facial fractures are a rare but significant form of trauma in the pediatric population. Our data suggests a slight change in fracture patterns compared to previous studies. Zygoma fractures, traumatic brain injury, and cervical spine injury are risk factors of increased mortality that clinicians should be aware of.


Assuntos
Fraturas Cranianas , Zigoma , Adulto , Idoso , Criança , Ossos Faciais , Humanos , Morbidade , Estudos Retrospectivos , Fraturas Cranianas/epidemiologia
6.
Ann Plast Surg ; 86(1): 82-88, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32187073

RESUMO

INTRODUCTION: Increased awareness for transgender and gender-nonconforming individuals may lead to increased demand for surgical interventions in gender-confirming care. However, limited literature exists regarding transgender and gender-nonconforming preferences and experiences with medical or surgical care. The authors aim to characterize the medical and surgical care sought by this population, as well as their surgical preferences, motivations, and barriers to care. METHODS: An online questionnaire about opinions and personal experiences with medical and surgical care during gender transition was publicized via regional online social networking forums in Connecticut and surrounding areas catering to transgender communities. RESULTS: Responses were received from 313 participants. Participants were 97% male gender at birth and 92% white with an average (SD) age of 51.6 (13.5) years. Fifty-nine percent identified as male-to-female transgender and 20% as gender nonconforming. Respondents were aware of their gender identity at a mean (SD) age of 9.6 (9.0) years, but did not begin transitioning until a mean (SD) age of 38.9 (20.8) years, with gender-nonconforming respondents choosing to transition at a significantly younger age as compared with transgender respondents (29.8 vs 41.4 years; P = 0.0061, unpaired t test). Only 42% of all respondents, with a significantly greater number of transgender as opposed to gender-nonconforming individuals, had previously met with a physician to discuss transitioning (49% vs 21%, P = 0.002, χ test). Eight percent of the study population had undergone gender confirmation surgery (GCS), 52% were interested in GCS, and 40% were not interested in GCS. Primary motivation for GCS included discomfort in one's current body (28%), and barriers to GCS included cost (40%) and reactions of family (40%), partners (32%), and friends (25%). CONCLUSIONS: Transgender and gender-nonconforming individuals lack medical support for gender transition, with fewer than half of survey respondents reporting a prior meeting with a physician to discuss transitioning. The reported perspectives offer important insight into transgender preferences that should act as the basis of future efforts to improve the efficacy of gender-confirming care.


Assuntos
Cirurgia de Readequação Sexual , Pessoas Transgênero , Adulto , Criança , Estudos Transversais , Feminino , Identidade de Gênero , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
8.
Plast Surg (Oakv) ; 27(2): 125-129, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31106169

RESUMO

PURPOSE: In syndromic craniosynostosis, the Le Fort III osteotomy is used to correct dental/skeletal imbalance, improve exorbitism, and increase the airway. The purpose of this study is to perform a cost comparison between the standard technique of single-stage rigid internal fixation and distraction osteogenesis (DO) in the Le Fort III osteotomy in this patient population. METHOD: Hospital cost accounting databases were queried for patients undergoing single-stage advancement (SS) or DO from 2007 to 2016. Nominal cost data were adjusted using the Bank of Canada Consumer Price Index. Reported costs represented the full length of stay for all utilization per patient. Demographic information and cost data for single-stage osteotomy and DO were compared. RESULTS: Total costs for single-stage (n = 8) were higher than distraction (n = 6; mean $CAD57 825 vs $38 268, P < .05). Intensive care unit (ICU) costs for single-stage were significantly higher than distraction (mean, $17 746 vs $5585, P < .005). Distraction cases had higher operating room (OR) costs than single stage, but the difference was not significant (mean, $12 540 vs $9696). Length of stay was significantly longer for SS patients (mean, 11 days vs 7 days, P < .05). CONCLUSIONS: This single-institution retrospective cost analysis indicates standard SS rigid internal fixation Le Fort III is more costly than DO. Despite higher OR costs, prolonged ICU and hospital stay was the primary reason behind this difference. This information may be of benefit when advocating for new technology perceived as high cost.


OBJECTIFS: En cas de craniosynostose syndromique, l'ostéotomie de Le Fort III permet de corriger un déséquilibre dentaire et squelettique, d'améliorer l'exophtalmie et de mieux ouvrir les voies respiratoires. La présente étude vise à comparer les coûts de la technique standard de fixation interne rigide en une étape à la distraction osseuse (DO) au sein de la population de patients en cas d'ostéotomie de Le Fort III. MÉTHODOLOGIE: Les chercheurs ont fouillé les bases de données comptables des coûts hospitaliers pour les patients qui avaient subi un avancement en une étape (AUÉ) ou une DO entre 2007 et 2016. Ils ont rajusté les données sur les coûts nominaux à l'aide de l'indice des prix à la consommation de la Banque du Canada. Les coûts déclarés représentaient la durée totale de tous les séjours hospitaliers par patient. Ils ont comparé l'information démographique et les données sur les coûts de l'ostéotomie en une étape à la DO. RÉSULTATS: Les coûts totaux de l'AUÉ (n = 8) étaient plus élevés que ceux de la DO (n = 6) (moyenne de 57 825 $ CA par rapport à 38 268 $, P < 0,05). Les coûts de l'unité de soins intensifs (USI) pour les AUÉ étaient considérablement plus élevés que la ceux de la DO (moyenne de 17 746 $ par rapport à 5 585 $, P < 0,005). Les cas de DO s'associent à un rapport de cotes des coûts plus élevé que l'AUÉ, mais la différence n'était pas significative (moyenne de 12 540 $ par rapport à 9 696 $). Le séjour hospitalier était considérablement plus long pour les patients subissant un AUÉ (moyenne de 11 jours par rapport à sept jours, P < 0,05). CONCLUSIONS: D'après la présente analyse rétrospective des coûts dans un seul établissement, la fixation interne rigide de l'AUÉ standard de Le Fort III est plus coûteuse que la DO. Malgré des coûts plus élevés en salle opératoire, un séjour prolongé à l'USI et à l'hôpital est la principale raison de cette différence. Cette information peut être utile pour défendre les nouvelles technologies qui sont perçues comme coûteuses.

9.
Cleft Palate Craniofac J ; 56(7): 944-952, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30537860

RESUMO

INTRODUCTION: Assessment of cranial dysmorphism in sagittal synostosis is often subjective but objective measures can be applied. These include cephalic index (CI) and midsagittal vector analysis (MSVA). OBJECTIVE: To assess discriminant validity, construct validity, and responsiveness of CI and MSVA measured from computed tomography (CT) in patients with sagittal synostosis. METHODS: Patients with nonsyndromic isolated sagittal synostosis with complete preoperative (n = 30) and postoperative (n = 13) CT data were included. Age-matched control group (n = 24) comprised of normocephalic patients who underwent CT for reasons related to trauma. OUTCOME MEASURES: Retrospective CT evaluation of CI and MSVA was conducted and correlated with a dysmorphism numeric rating scale (D-NRS) that measured surgeon-rated severity of sagittal synostosis. Responsiveness of CI and MSVA was evaluated using dysmorphism global rating of change (D-GRC). RESULTS: Thirty patients with sagittal synostosis were demographically similar to 24 normocephalic patients. The difference in CI and MSVA was statistically significant between normocephalic and scaphocephalic patients. Cephalic index had a good correlation with D-NRS (r = -0.665, ρ = -0.667), but not with MSVA (r = 0.250, ρ = 0.203). Change in CI (r = 0.738, ρ = 0.657) was well correlated with D-GRC, but not with MSVA (r = -0.409, ρ = -0.301). CONCLUSION: Cephalic index appears to quantify the severity of sagittal synostosis better than MSVA. Cephalic index also has better responsiveness than MSVA to measure a reduction in severity of disease; however, MSVA is a better descriptive craniometric measurement. Midsagittal vector analysis was able to quantify the shift in morphology in sagittal synostosis following surgical treatment.


Assuntos
Cefalometria , Craniossinostoses , Procedimentos de Cirurgia Plástica , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Ossos Faciais , Humanos , Lactente , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
10.
Wounds ; 30(7): E68-E70, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30059340

RESUMO

INTRODUCTION: Squamous cell carcinoma (SCC) is most commonly found on sun-damaged skin and less often occurs on the toes and feet. CASE REPORT: A 41-year-old man with a history of human immunodeficiency virus and asthma, who had received highly active antiretroviral therapy for 7 years while incarcerated, presented to the emergency department with a primary SCC of the left foot with inguinal lymph node metastasis. The patient underwent a left foot transmetatarsal amputation; due to noncompliance, he underwent a below-the-knee amputation 17 days later as a result of surgical findings and extent of infection. The surgical site fully healed without further complications. The patient now has phantom limb pain of the left leg, sees oncology for palliative marijuana use, and refuses the recommended positron-emission tomography/computed tomography scan for completion of cancer staging. CONCLUSIONS: This case shows the importance of patient compliance and timely treatment of SCC and surgical wounds in an immunosuppressed individual.


Assuntos
Amputação Cirúrgica , Carcinoma de Células Escamosas/patologia , Pé/patologia , Infecções por HIV/tratamento farmacológico , Metástase Linfática/patologia , Neoplasias Cutâneas/patologia , Adulto , Terapia Antirretroviral de Alta Atividade , Carcinoma de Células Escamosas/imunologia , Carcinoma de Células Escamosas/terapia , Infecções por HIV/imunologia , Humanos , Masculino , Cooperação do Paciente , Prisioneiros , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/terapia , Resultado do Tratamento
11.
J Craniofac Surg ; 29(4): 852-855, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29461367

RESUMO

BACKGROUND: Children with craniosynostosis have abnormal head shapes. Parents frequently ask whether the abnormal head shape will get worse with time. However, there is no information in the literature to indicate whether the deformity gets worse. OBJECTIVE: To assess the progression of cranial morphology in children with unoperated craniosynostosis. METHODS: A retrospective review of all children with unoperated sagittal craniosynostosis who were referred to the Craniofacial Clinic at the Hospital for Sick Children (SickKids) was conducted. Serial 3D photographs of patients with sagittal craniosynostosis who have not undergone surgical correction were included in the study. There were 14 cases included, with 9 males and 5 females. Ages at time of scans ranged from 3 months to 5 years of age (mean = 28.3 months, SD = 28.2 months). Nine patients had the first scan at age of <12 months. Multiple scans for each patient were sized for volume over time and compared with a normative skull database. RESULTS: The results of measuring skull volume changes over time revealed no significant difference from infants without craniosynostosis. Furthermore, there cranial index was stable over time in patients with craniosynostosis. CONCLUSION: The severity of craniosynostosis does not worsen or improve with time. Parents having difficulty in deciding to proceed with surgical correction of craniosynostosis can be reassured that the skull deformity will remain stable with the growth of their child if they decide not to proceed with surgical correction.


Assuntos
Craniossinostoses , Crânio , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Bases de Dados Factuais , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/patologia
12.
J Craniofac Surg ; 28(8): 1946-1949, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28938321

RESUMO

BACKGROUND: For Pierre Robin sequence (PRS) patients, there is incomplete characterization of 3D differences and effects of mandibular distraction osteogenesis (MDO) on the mandible compared to normal controls. METHODS: PRS infants who underwent MDO at 2 craniofacial referral centerals with pre- and postoperative computed tomography (CT) scans were identified. A group of age-matched control patients with CTs were identified in the PACS database. Demographic and perioperative data were recorded. Mandibular lengths, angles, and volumes were measured. Morphologic and outcomes data were analyzed in a case-control comparison. RESULTS: Sixty-three CT scans were analyzed. Fifteen pre-op PRS patient and 15 control CTs were well matched in terms of age and sex. Mandibular volume (78%), ramus length (87%), and body length (95%) were all decreased in the PRS patients. Anterior symphyseal angle (84%) was significantly reduced in PRS patients while mandibular angle (102%) was maintained. Eighteen post-op PRS patient and 15 control CTs were well matched in terms of age and gender. Mandibular volumes (106%) were normalized following distraction with shorter mandibular rami (88%) and longer mandibular bodies (109%). Postoperatively, mandibular angle (100%) and anterior symphyseal angle (99%) were ultimately indistinguishable from controls. CONCLUSIONS: The mandible in PRS is dysmorphic compared to age-matched controls. Overall, they have a smaller volume, shorter ramus, and an obtuse symphyseal angle. MDO improves mandibular volume and normalizes the symphyseal angle, but results in a longer mandibular body and shorter mandibular ramus.


Assuntos
Mandíbula , Micrognatismo/diagnóstico , Osteogênese por Distração/métodos , Síndrome de Pierre Robin , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/etiologia , Estudos de Casos e Controles , Cefalometria/métodos , Feminino , Humanos , Lactente , Masculino , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Mandíbula/cirurgia , Micrognatismo/etiologia , Avaliação de Processos e Resultados em Cuidados de Saúde , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/cirurgia , Polissonografia/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
13.
J Oral Maxillofac Surg ; 75(1): 167-177, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27718360

RESUMO

PURPOSE: The goal of mandibular distraction in the Pierre-Robin sequence is to maximally expand the oropharyngeal airway. It has been hypothesized that a steep oblique distraction vector might allow greater airway enlargement compared with horizontal distraction. This study compared vector orientation in relation to airway volume and overall clinical outcome. MATERIALS AND METHODS: Micrognathic infants who underwent mandibular distraction with sufficient computed tomographic data were retrospectively reviewed. Demographic, diagnostic, perioperative, and distraction data were recorded. Groups were separated based on distraction vector (group 1, horizontal; group 2, oblique). Airway and mandibular volumes were measured using Mimics (Materialise, Leuven, Belgium). Morphologic and outcomes data were analyzed. Statistics involved 2-tailed t test, Pearson correlation, and analysis of covariance (ANCOVA). RESULTS: Mean age at distraction was 40 days, with devices maintained for 82 days on average. Fifty percent of patients were girls and 65% had cleft palate. Forty computed tomograms were analyzed. Airway (1,234 vs 3,501 mm3; P < .01) and mandibular (5,457 vs 11,827 mm3; P < .01) volumes, minimal airway area (12.5 vs 63.7 mm2; P < .01), and posterior airway space distance (2.3 vs 9.8 mm; P = .04) were significantly increased after distraction. Patients also had clinically improved sleep studies after distraction (apnea hypopnea index, 51.3 vs 5.5; P < .01). Vector analysis showed an average of 5.3° and 14.0° in groups 1 and 2, respectively (n = 10 each). Intergroup analysis showed a trend toward increased airway volume in horizontal vectors (548 vs 255% of preoperative volume; P = .058), with slightly longer distraction length (20.3 vs 16.6 mm; P = .17). However, ANCOVA regression analysis showed no difference in the relation between vector and length. Other morphologic data and sleep study outcomes (apnea hypopnea index, 7.0 vs 3.9; P = .09) also were not statistically different between groups. Longer lengths of distraction correlated with narrower anterior mandibular angle and longer mandibular body length. CONCLUSIONS: Substantial airway enlargement occurs after mandibular distraction. Final airway volumes were similar between groups regardless of vector, which was confirmed by multivariate ANCOVA regression. The 2 methods achieved airway stabilization, with clinical outcomes similar between the 2 groups.


Assuntos
Obstrução das Vias Respiratórias/etiologia , Mandíbula/cirurgia , Micrognatismo/cirurgia , Osteogênese por Distração/efeitos adversos , Síndrome de Pierre Robin/cirurgia , Obstrução das Vias Respiratórias/diagnóstico por imagem , Fissura Palatina/cirurgia , Feminino , Humanos , Lactente , Masculino , Mandíbula/diagnóstico por imagem , Micrognatismo/diagnóstico por imagem , Osteogênese por Distração/métodos , Síndrome de Pierre Robin/diagnóstico por imagem , Polissonografia , Sistema Respiratório/diagnóstico por imagem , Sistema Respiratório/fisiopatologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
14.
Elife ; 52016 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-27606499

RESUMO

Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare transmitted mutations in SMAD6, an inhibitor of BMP - induced osteoblast differentiation (p<10-20). SMAD6 mutations nonetheless showed striking incomplete penetrance (<60%). Genotypes of a common variant near BMP2 that is strongly associated with midline craniosynostosis explained nearly all the phenotypic variation in these kindreds, with highly significant evidence of genetic interaction between these loci via both association and analysis of linkage. This epistatic interaction of rare and common variants defines the most frequent cause of midline craniosynostosis and has implications for the genetic basis of other diseases.


Assuntos
Alelos , Proteína Morfogenética Óssea 2/genética , Craniossinostoses/genética , Mutação , Proteína Smad6/genética , Exoma , Estudos de Associação Genética , Humanos , Lactente , Penetrância , Análise de Sequência de DNA
15.
J Neurosurg Pediatr ; 17(4): 460-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26684766

RESUMO

OBJECT Nonsyndromic craniosynostosis (NSC) is associated with significant learning disability later in life. Surgical reconstruction is typically performed before 1 year of age to correct the cranial vault morphology and to allow for normalized brain growth with the goal of improving cognitive function. Yet, no studies have assessed to what extent normalized brain growth is actually achieved. Recent advances in MRI have allowed for automated methods of objectively assessing subtle and pronounced brain morphological differences. The authors used one such technique, deformation-based morphometry (DBM) Jacobian mapping, to determine how previously treated adolescents with sagittal NSC (sNSC) significantly differ in brain anatomy compared with healthy matched controls up to 11.5 years after surgery. METHODS Eight adolescent patients with sNSC, previously treated via whole-vault cranioplasty at a mean age of 7 months, and 8 age- and IQ-matched control subjects without craniosynostosis (mean age for both groups = 12.3 years), underwent functional 3-T MRI. Statistically significant group tissue-volume differences were assessed using DBM, a whole-brain technique that estimates morphological differences between 2 groups at each voxel (p < 0.01). Group-wise Jacobian volume maps were generated using a spacing of 1.5 mm and a resolution of 1.05 × 1.05 × 1.05 mm(3). RESULTS There were no significant areas of volume reduction or expansion in any brain areas in adolescents with sNSC compared with controls at a significance level of p < 0.01. At the more liberal threshold of p < 0.05, two areas of brain expansion extending anteroposteriorly in the right temporooccipital and left frontoparietal regions appeared in patients with sNSC compared with controls. CONCLUSIONS Compared with previous reports on untreated infants with sNSC, adolescents with sNSC in this cohort had few areas of brain dysmorphology many years after surgery. This result suggests that comprehensive cranioplasty performed at an early age offers substantial brain normalization by adolescence, but also that some effects of vault constriction may still persist after treatment. Specifically, few areas of expansion in frontoparietal and temporooccipital regions may persist. Overall, data from this small cohort support the primary goal of surgery in allowing for more normalized brain growth. Larger samples, and correlating degree of normalization with cognitive performance in NSC, are warranted.


Assuntos
Encéfalo/patologia , Craniossinostoses/cirurgia , Imageamento por Ressonância Magnética/métodos , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Criança , Feminino , Seguimentos , Humanos , Lactente , Masculino
16.
Plast Reconstr Surg ; 135(5): 1449-1453, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25919258

RESUMO

UNLABELLED: The goal of primary cleft lip repair is to unify the lip elements and achieve a nearly normal appearance. Many techniques can confer satisfactory results; however, scarring and contour irregularities may persist. Lipofilling can modulate scar formation and enable soft-tissue augmentation. The authors hypothesize that fat grafting during immediate cleft lip repair may be of benefit. Patients who underwent primary cleft lip repair with and without immediate fat grafting were compared. Postoperative photographs were analyzed by three blinded reviewers. Cronbach statistics and a two-tailed t-test were used. Scar analysis revealed statistically significant (p < 0.05) improvement in scar appearance and contour of the fat-grafted cleft lip repair. Immediate fat grafting may be a promising strategy to improve lip appearance, contour, and scarring during primary cleft lip repair. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Assuntos
Fenda Labial/cirurgia , Procedimentos Cirúrgicos Bucais/métodos , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
17.
Aesthetic Plast Surg ; 38(1): 224-229, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24399146

RESUMO

BACKGROUND: Autologous fat grafting is a highly used technique in plastic and reconstructive surgery. Several fat-processing techniques have been described, with centrifugation frequently touted as the optimal method. Processing is one factor important for maximizing cell viability and adipose-derived mesenchymal stem cell (ADSC) concentrations. This study compared two methods of fat preparation (centrifugation vs Telfa-rolling) to determine which technique results in the greatest degree of cell viability and ADSC concentration. METHODS: Abdominal fat was harvested from five patients. Equal aliquots were divided and processed by both centrifugation and Telfa-rolling. Samples were analyzed for ADSC proportions via flow cytometry and cell viability using methylene blue-based cell counting. Paired t tests were performed on all samples, and a P value lower than 0.05 was considered statistically significant. RESULTS: Telfa-rolling processing resulted in a higher percentage of isolated ADSCs (P < 0.5 for 3 of 4 parameters) and a significantly higher number of viable cells (P < 0.05). CONCLUSION: Telfa-rolling results in a higher proportion of ADSCs and greater cell viability than centrifugation for donor adipose graft preparation. Further studies are necessary to confirm whether optimal preparation translates to improved augmentation and cell take at the recipient site. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Assuntos
Adipócitos , Células-Tronco , Contagem de Células , Sobrevivência Celular , Centrifugação , Humanos , Lipectomia
18.
Ann Plast Surg ; 64(5): 512-5, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20354427

RESUMO

Current guidelines used to predict appropriate resection weight for patients undergoing reduction mammaplasty are typically based on relatively nondescript patient characteristics and are most often inaccurate. The determination of patient measurements that correlate with resection weight could enable appropriate resection weight to be predicted more precisely and on an individualized basis. To better elucidate this, data from 348 patients undergoing bilateral reduction mammaplasty (696 breasts) between October 2001 and March 2009 were reviewed retrospectively. The association between resection weight and sternal notch to nipple distance (SNN), inframammary fold to nipple distance (IMFN), and body mass index (BMI) was assessed. Regression analysis demonstrated a strong correlation between resection weight and SNN distance (r = 0.672, P < 0.001), IMFN distance (r = 0.467, P < 0.001), and BMI (r = 0.510, P < 0.001). The strongest correlation was observed after incorporating all 3 parameters (r = 0.740, P < 0.001). This enabled the calculation of a formula to predict resection weight: Predicted weight = 40.0(SNN) + 24.7(IMFN) + 17.7(BMI) - 1443 In conclusion, resection weight correlates strongly with SNN, IMFN, and BMI in patients undergoing reduction mammaplasty. When considered together, resection weight can be predicted with a strong degree of accuracy.


Assuntos
Mama/anatomia & histologia , Mama/cirurgia , Mamoplastia/métodos , Adolescente , Adulto , Idoso , Índice de Massa Corporal , Criança , Feminino , Humanos , Hipertrofia , Modelos Lineares , Pessoa de Meia-Idade , Tamanho do Órgão , Valor Preditivo dos Testes , Estudos Retrospectivos , Resultado do Tratamento
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