Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6.
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Biomedical subjects
Publications and source records attributed to S Stal.
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Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using an anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds only. Homogeneity testing on the two-point data gave evidence of heterogeneity at APOC2 under the affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities > = 50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families.
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Cadaveric cartilage was cut into blocks with a newly devised cartilage cutter. Over one-hundred pieces of cartilage were used to define a kinetics curve of cartilage warping. Kinetics curves were developed for a control group of cartilage blocks placed in saline-soaked gauze (n = 46). In addition, kinetics curves were developed for cartilage placed in hypotonic saline (n = 14), hypertonic saline (n = 14), and cyanoacrylate glue (n = 6). Photographs of all groups were taken at timed intervals in order to plot the cartilage warping. It was found that pieces of cartilage which were cut peripherally (n = 6) warped twice as much as those cut centrally (n = 40). This was significant to p = 0.001. Within 15 minutes, centrally cut pieces of cartilage warped to approximately 90 percent of their end warpage; on the other hand, peripherally cut pieces of cartilage required 30 minutes to warp 90 percent of their destined warpage. The variables used did not significantly alter the kinetics curves as compared with control.
This article reviews the essential clinical and pathologic features of a number of tumors of the dermis and epidermal appendages to help improve the clinician's skill at formulating preoperative differential diagnoses, assessing the need for treatment, and determining appropriate follow-up. In addition, it attempts to alert the practitioner to a number of heritable and systemic conditions that may be signalled by the presence of cutaneous tumors.
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We subdivide the calvarium into three zones, each with its special reconstructive requirements. Based on our experience with calvarial defects in 13 patients, we favor use of autogenous material, especially in the face of previous infection or a scarred recipient bed. Alloplasts give excellent forehead contour but alloplastic reconstruction should be delayed for 1 year after injury. Vascularized bone grafts maintain contour well. They are best suited to large periorbital defects. At other locations we favor split calvarial free bone grafts. Occasionally, the defect may be so large as to warrant grafts from multiple donor sites. Use of vascularized muscle helps eradicate infection, provides a vascularized bed for free bone grafts, and fills dead space. The frontal sinus is managed either by cranialization (if the posterior wall is involved) or by mucosal stripping with obliteration of the nasofrontal duct. Additional technical considerations include rigid bone fixation, surgical exposure through a bicoronal incision, and meticulous handling of bone grafts.
The aims of calvarial reconstruction are to restore anesthetic contour and to provide protection for the underlying central nervous system structures. The authors present their algorithm of reconstructive options. Important considerations are the anatomic location of the defect and the duration since the original injury.
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Aesthetic surgery is the natural evolution of reconstructive surgery done to improve a patient's form in addition to function. This becomes especially critical in the pediatric age group in which patients are constantly evolving and their concepts of self-esteem and body image are so fragile.
Craniofacial surgery aims to allow proper expansion of the brain and the creation of an acceptable appearance. Early surgery represents an important means to attain these goals, with the choice of surgical technique being as critical as timing.
During a 2-year period, 15 lower and upper extremity amputees were treated by microsurgical free-tissue transfer in an effort to salvage their amputation stumps. Salvage of length and restoration of contour to aid in prosthetic rehabilitation were the two main indications for reconstruction. Included in the 15 transfers were 3 scapular free flaps, 11 latissimus dorsi musculocutaneous flaps, and 1 groin flap. Thirteen of the patients in this group were refitted with prostheses following reconstruction and did well with no pain or skin breakdown of the resurfaced stumps. The follow-up period on these patients averaged 16 months. One patient, in whom the flap succeeded, underwent stump soft-tissue revision and myodesis. One patient, in whom the flap failed, continued to develop recurrent ulceration in his stump. This clinical experience followed an extensive laboratory study of 12 above-knee amputation patients using noninvasive Doppler ultrasound measurements to determine weight-loading and interface-pressure distribution between the stump and the socket of the prostheses and their relation to stump length and circumference.
Dermatologists and their plastic surgical colleagues treating acne vulgaris and its sequelae have an effective arsenal of anti-acne preparations to inhibit and avoid many of the long-term, cosmetically deforming effects of severe inflammatory acne. It is incumbent upon the physician participating in the care of the early and late sequelae of acne vulgaris to provide timely surgical therapy for those lesions requiring surgical drainage, extraction, or scar revision, while maintaining appropriate medical therapy for those areas of the skin still at risk to develop active disease.
Proper understanding of the cause, nature, and treatment of diseases affecting the skin requires an intimate knowledge of the anatomy and physiology of normal as well as pathologic skin. This article thus lays the groundwork for the discussions of specific pathologic conditions that follow in this issue.
Benign skin lesions are commonly seen and treated in the physician's office using standard equipment. These simple techniques may be easily learned and can and should be effectively employed by plastic surgeons.
Keratoacanthoma is a benign epithelial tumor with a close resemblance to squamous-cell carcinoma both clinically and histologically. Both the pathologic status and treatment of keratoacanthoma are controversial.