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1.
Clough KB Thomas SS Fitoussi AD Couturaud B Reyal F Falcou MC 《Plastic and reconstructive surgery》2004,114(7):1743-1753
Patients with suboptimal results following breast conservative therapy are presenting more frequently to plastic surgeons as a difficult management problem. A three-type "cosmetic sequelae classification" is proposed to evaluate and manage these patients. From February of 1991 to November of 2001, 85 patients were treated for cosmetic sequelae of breast conservative therapy at the Institut Curie. The patients were followed up prospectively for 6 to 132 months (median, 33 months). They were assessed with regard to age, site and stage of tumor, type of initial breast conservative therapy undertaken, corrective operative procedures performed, complications, and cosmetic results. Forty-eight patients (56.5 percent) had type 1 cosmetic sequelae, 33 patients (38.8 percent) had type 2, and four patients (4.7 percent) had type 3. Type 1 was managed by contralateral symmetrizing procedures. Type 2 was the most difficult to manage by means of various procedures. Type 3 required mastectomy and immediate breast reconstruction. Type 1 had 97.6 percent good results compared with 82.7 percent for type 2. Three of the four type 3 patients had good results. This article reaffirms the validity of the cosmetic sequelae classification as a simple, practical guide for breast reconstructive surgeons. It discusses the various choices of reconstructive procedures available, the importance of preventing these cosmetic sequelae, and the role of the plastic surgeon in the planning of conservative treatment of breast cancers. 相似文献
2.
Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease 总被引:4,自引:0,他引:4
Mulefoot disease (MFD) is an autosomal recessive disorder of phenotypically variable expression that causes syndactyly in certain strains of cows. MFD maps to a narrow interval on bovine chromosome 15 that is syntenic to human chromosome 11p12-p11.2. This region contains MEGF7/LRP4 (approved gene symbol LRP4), a gene that encodes a member of the multifunctional low-density lipoprotein receptor gene family. Targeted and naturally occurring mutations in the murine Megf7/Lrp4 gene, a putative coreceptor in the Wnt signaling pathway, cause polysyndactyly in the rodent. Thus, Megf7/Lrp4 is a strong candidate for the MFD mutation. Using PCR analysis of tissue samples and sperm from confirmed homozygous MFD carriers, we have identified a functional single base pair mutation in the affected animals. We show that a G --> A transition at the first nucleotide in the splice donor site of intron 37 completely disables this splice site. The abnormal splicing that is caused by this mutation predicts the generation of a dysfunctional membrane-anchored receptor lacking the normal cytoplasmic domain. These findings confirm that autosomal recessive loss-of-function mutations in Megf7/Lrp4 result in phenotypically similar forms of syndactyly in different mammalian species and that such mutations are the cause of MFD in bovines. 相似文献
3.
Over 12 years, 1092 patients underwent 2019 craniomaxillofacial procedures in Toronto. Overall mortality was 0.64 percent, and that directly related to surgery was 0.18 percent. Major complications developed in 14.3 percent of patients, but not all had permanent sequelae. Infection was the greatest problem, occurring in 5.3 percent of the major operations. The annual incidence of complications dropped to 5.4 percent as our experience increased. Certain types of deformity, particularly those in patients with orbital hypertelorism, Treacher-Collins syndrome, or Crouzon's or Apert's syndrome, require more than one operation to achieve maximum correction. Our procedures have undergone many changes, the main one being a reduced operating time. 相似文献
4.
Radical correction of secondary nasal deformity in unilateral cleft lip patients presenting late 总被引:6,自引:0,他引:6
Ahuja RB 《Plastic and reconstructive surgery》2001,108(5):1127-1135
It is universally acknowledged that correction of a cleft lip nasal deformity continues to be a difficult problem. In developing countries, it is common for patients with cleft lip deformities to present in their early or late teens for correction of severe secondary lip and nasal deformities retained after the initial repairs were carried out in infancy or early childhood. Such patients have never had the benefit of primary nasal correction, orthodontic management, or alveolar bone grafting at an appropriate age. Along with a severe nasal deformity, they present with alveolar arch malalignments and anterior fistulae. In the study presented here, a strategy involving a complete single-stage correction of the nasal and secondary lip deformity was used.In this study, 26 patients (nine male and 17 female) ranging in age from 13 to 24 years presented for the first time between June of 1996 and December of 1999 with unilateral cleft lip nasal deformity. Eight patients had an anterior fistula (diameter, 2 to 4 mm) and 12 patients had a secondary lip deformity. An external rhinoplasty approach was used for all patients. The corrective procedures carried out in a single stage in these patients included lip revision; columellar lengthening; repair of anterior fistula; augmentation along the pyriform margin, nasal floor, and alveolus by bone grafts; submucous resection of the nasal septum; repositioning of lower lateral cartilages; fixation of the alar cartilage complex to the septum and the upper lateral cartilages; augmentation of nasal dorsum by bone graft; and alar base wedge resections. Medial and lateral nasal osteotomies were performed only if absolutely indicated. The median follow-up period was 11 months, although it ranged from 5 to 25 months. Overall results have been extremely pleasing, satisfactory, and stable.In this age group (13 years of age or older), it is not fruitful to use a technique for nasal correction that corrects only one facet of the deformity, because no result of nasal correction can be satisfactory until septal deviations and maxillary deficiencies are addressed along with any alar repositioning. The results of complete remodeling of the nasal pyramid are also stable in these patients because the patients' growth was nearly complete, and all the deformities could be corrected at the same time, leaving no active deforming vector. These results would indicate that aesthetically good results are achievable even if no primary nasal correction or orthodontic management had been previously attempted. 相似文献
5.
Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy. 相似文献
6.
Non-syndromic syndactyly is a heterogeneous group of limb malformations involving webbing of fingers and/or toes. There are at least nine non-syndromic types described in the literature. For the clinician and the genetic counsellor not having gathered experience with this malformation, it is rather tedious to identify the correct subtype for the patient's phenotype. We therefore present a protocol for clinical use, which visualises the malformation in a graphical way and thereby simplifies typing. In addition, this protocol provides a simple documentation system for reporting clinical data for new syndactyly families. It might encourage clinicians to report families that are still unclassifed and thus, helping to extend and improve the existing classification system. 相似文献
7.
The authors present their experience with a relatively uncomplicated, rapid technique for elevation of the lateral eyebrow and a simultaneous correction of eyelid hooding that is secondary to the descent of the eyebrow. The procedure is designed for all patients requiring lateral brow elevation, either separately or in combination with other procedures. The authors describe and illustrate their technique. 相似文献
8.
Breast deformities following conservative cancer surgery are seen with increasing frequency and often represent difficult reconstructive problems. Type II deformities are characterized by localized tissue insufficiency, which can be due to skin insufficiency (type IIa), subcutaneous tissue insufficiency (type IIb), or both (type IIab). Correction of a locally damaged breast is a surgical challenge that can result in a fully restored breast if selection of the surgical procedure is properly carried out. A series of 37 patients who underwent correction of type II deformities from 1980 to 1989 was reviewed. Results obtained with different surgical procedures, including simple submuscular placement of traditional or expandable implants, breast reshaping, transposition of a latissimus dorsi muscle or musculocutaneous flap, TRAM flap, and reverse abdominoplasty, were evaluated. Aesthetic outcome was judged to be good or excellent in 78 percent of patients. Guidelines for selection of the most appropriate surgical procedure according to the defect's etiology, morphology, and location and to the breast's size and shape are presented. 相似文献
9.
10.
Reconstruction for polysyndactyly of the toes aims at cosmetic improvement. A previous method that uses a skin graft has inherent disadvantages of mismatched pigmentation between the graft and the surrounding skin and scar formation at the donor site. The authors' new improved surgical technique for the treatment of polysyndactyly of the toes does not require a skin graft and therefore avoids these problems. The authors designed a subcutaneous flap from the distal portion of a rectangular flap of skin from the dorsal side of the interdigital webbing and moved the former flap to the sidewall of the base of a toe. Both flaps are the same size; therefore, an interdigital space had to be of sufficient size to accommodate both of them. To ensure an adequate blood supply to the flap, careful handling of the subcutaneous flap is essential for success. This procedure can apply to polysyndactyly of the fourth, fifth, and sixth toes when the fourth and fifth toes adhere over the distal side of the distal interphalangeal joint and when the skin on the dorsal side of the fifth toe, regarded as the excessive one, is at lease twice the size of the dorsal rectangular flap. Ten patients with polysyndactyly of the toe were treated with this method. Aesthetically good results were obtained. 相似文献
11.
The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically. A familial type of this syndrome has also been reported. There have been many classifications of symbrachydactyly. Of these, Blauth classification is the most favored one. Yet these classifications have been inadequate to include many recently discovered other forms of symbrachydactyly. A three month old child was brought to the Istanbul University Genetic Research Center because of his abnormal hands and feet. He was the second child of a couple who had no kinship ties to each other. In the history of the family, there was no mention of any anomaly as such. There was a complete syndactyly involving the 3rd through the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thumb was normal in the right hand. There was only one finger in the left hand. There was total syndactyly in four toes of the right foot with oligodactyly and absence of the big toe. The left foot had five toes with a complete syndactyly between the 2nd and the 3rd. Radiological observation indicated that the middle phalanges of both extremities were rudimentary or never developed. There was no osseous syndactyly. As observed in this case, oligodactylous type that is bilateral and involves both hands and feet together is very unusual. The purpose of this study is to present a rare case of this anomaly that requires a reassessment of symbrachydactyly and its traditional classifications. 相似文献
12.
The experience of the Children''s Hospital of Winnipeg from 1957 to 1971 with abused infants and children is presented with statistical data on 132 children. Details as to incidence, source and types of abuse are presented along with a discussion of the management of the problem. A follow-up study on a group of the abused children is also presented with comments directed towards some preventive measures. 相似文献
13.
Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the more severe presenting types and subtypes may show autosomal recessive or X-linked
pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant on genetic background and subsequent signaling pathways involved in limb formation. So far, the principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying pathogenesis of this complicated disorder and have implication on genetic counseling. 相似文献
14.
McDonnell SM 《Animal reproduction science》2008,107(3-4):219-228
Self-mutilation in horses includes biting, stomping and kicking, rubbing, and lunging into objects. Based on the author's clinical experience, three distinct types of self-mutilation are proposed and described. Type I represents normal behavioral response to continuous or intermittent physical discomfort. Type II, seen in stallions and geldings, can be recognized as self-directed intermale aggression. The behavior includes the elements and order of the natural interactive sequence typical of encounters between two stallions, except that the stallion himself is the target of his intermale behavior. Type III involves a more quiet, often rhythmically repetitive or methodical behavioral sequence of a stereotypy, for example nipping at various areas of the body in a relatively invariant pattern, stomping, or kicking rhythmically against an object. The prevalence of the various types of self-mutilation in horses is not known. In one survey, results suggested that self-mutilation of one form or another has been observed in as many as 2% of domestic stallions. Among and between stallions, self-mutilation varies in frequency and intensity, and can reach levels that are fertility and/or life threatening. Careful evaluation of the horse's behavior is often necessary to distinguish the specific type. Type I self-mutilation, where physical discomfort is the root cause, can be eliminated by relieving the discomfort. For Types II and III, understanding of intermale interactive behavior of horses and the environmental factors that may trigger or exacerbate the self-mutilative form, can be useful in guiding humane management or behavior modification. Pharmacologic interventions may be a useful adjunct to management and nutritional changes. 相似文献
15.
Daniel A. Peterson 《Methods (San Diego, Calif.)》1999,18(4):493-507
Direct, two-dimensional counting or measuring of cells as they appear in histological sections is subject to a number of artifacts that can lead to erroneous conclusions about changes in cellular populations. Numerous correction procedures devised to compensate for these artifacts are collectively termed model-based stereology due to their reliance on a model of cell geometry for correction formulas. These corrections are valid only to the degree that the geometric model reflects cellular morphology. In addition, there are requirements for population homogeneity that are often not met in biological material. The development of design-based stereology provides a way to directly count or measure cells in three dimensions, avoiding errors (biases) and the need for assumptions regarding cell size, shape, and orientation to be validated. On this basis, these procedures are described as unbiased stereology. The recent commercial availability of semiautomated stereology systems has substantially reduced the effort and experimenter error (bias) associated with the use of design-based stereology. The optical resolution of confocal microscopy and the ability to collect registered series of focal planes is ideally suited for the three-dimensional sampling of design-based stereology. Unfortunately, stereological procedures are not available in any confocal microscope software and it is up to the user to implement these procedures. Strategies and illustrations of approaches to implementing stereological procedures on a confocal microscope are presented. Where possible, particular design issues are discussed and solutions suggested. With user requests, future generations of confocal software may integrate collection of confocal images with the implementation of design-based stereology. 相似文献
16.
Although we and others have developed equations to analyze for some indefinite self-associations that might be encountered, it is felt in some cases that these models, known as the sequential, equal equilibrium constant (SEK) models, might overestimate the size of aggregates encountered at higher solute concentrations. Thus, Garland and Christian proposed two attenuated equilibrium constant (AK) models that might overcome this problem. Their methods were restricted to ideal solutions and to osmometric procedures. We have removed these restrictions, and we have developed equations for analyzing four AK models that might be encountered. Various tests to aid in distinguishing these models are presented. These procedures have been tested with two simulated examples of a Type III AK indefinite self-association. 相似文献
17.
Postquadrantectomy breast deformities: classification and techniques of surgical correction 总被引:9,自引:0,他引:9
The deformity which is encountered following quadrantectomy (or similar procedures such as segmentectomy or partial mastectomy) and radiation therapy is difficult to evaluate objectively, and subjective assessment of the cosmetic outcome is extremely variable. In a group of 54 patients who underwent the procedure between 1979 and 1983, the types of cosmetic changes were evaluated and classified according to morphologic criteria. Four types of deformities and their related etiopathologic factors were identified. Type I is characterized by malposition and distortion of the nipple-areola complex and is mainly due to postoperative fibrosis and scar contracture. In type II deformity, localized tissue insufficiency is observed, which may be due to skin deficiency (type IIa), subcutaneous tissue deficiency (type IIb), or both (type IIab). Type III deformity is characterized by breast retraction and shrinkage and is mainly due to the effects of radiotherapy on residual breast parenchyma. In type IV deformity, severe radiation-induced damage to the skin, nipple-areola complex, and subcutaneous and glandular tissues is present. Surgical correction of each type of deformity is discussed, and examples are reported. 相似文献
18.
The proportion ratio (PR) of responses between an experimental treatment and a control treatment is one of the most commonly used indices to measure the relative treatment effect in a randomized clinical trial. We develop asymptotic and permutation‐based procedures for testing equality of treatment effects as well as derive confidence intervals of PRs for multivariate binary matched‐pair data under a mixed‐effects exponential risk model. To evaluate and compare the performance of these test procedures and interval estimators, we employ Monte Carlo simulation. When the number of matched pairs is large, we find that all test procedures presented here can perform well with respect to Type I error. When the number of matched pairs is small, the permutation‐based test procedures developed in this paper is of use. Furthermore, using test procedures (or interval estimators) based on a weighted linear average estimator of treatment effects can improve power (or gain precision) when the treatment effects on all response variables of interest are known to fall in the same direction. Finally, we apply the data taken from a crossover clinical trial that monitored several adverse events of an antidepressive drug to illustrate the practical use of test procedures and interval estimators considered here. 相似文献
19.
ABSTRACT: BACKGROUND: A recent large-scale analysis of Gene Expression Omnibus (GEO) data found frequent evidence for spatial defects in a substantial fraction of Affymetrix microarrays in the GEO. Nevertheless, in contrast to quality assessment, artefact detection is not widely used in standard gene expression analysis pipelines. Furthermore, although approaches have been proposed to detect diverse types of spatial noise on arrays, the correction of these artefacts is mostly left to either summarization methods or the corresponding arrays are completely discarded. RESULTS: We show that state-of-the-art robust summarization procedures are vulnerable to artefacts on arrays and cannot appropriately correct for these. To address this problem, we present a simple approach to detect artefacts with high recall and precision, which we further improve by taking into account the spatial layout of arrays. Finally, we propose two correction methods for these artefacts that either substitute values of defective probes using probeset information or filter corrupted probes. We show that our approach can identify and correct defective probe measurements appropriately and outperforms existing tools. CONCLUSIONS: While summarization is insufficient to correct for defective probes, this problem can be addressed in a straightforward way by the methods we present for identification and correction of defective probes. As these methods output CEL files with corrected probe values that serve as input to standard normalization and summarization procedures, they can be easily integrated into existing microarray analysis pipelines as an additional pre-processing step. An R package is freely available from http://www.bio.ifi.lmu.de/artefact-correction. 相似文献
20.
Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not. 相似文献