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Marcelo Miranda MD Claudia Castiglioni MD Beat M. Frey MD Martin Hergersberg PhD Adrian Danek MD Hans H. Jung MD 《Movement disorders》2007,22(9):1358-1361
The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society 相似文献
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Solish Nowell MD Benohanian Antranik MD Jonathan W. Kowalski PharmD MS on Behalf of the Canadian Dermatology Study Group on Health-Related Quality of Life in Primary Axillary Hyperhidrosis 《Dermatologic surgery》2005,31(4):405-413
BACKGROUND: Patients with primary axillary hyperhidrosis experience substantial functional impairment and reduced health-related quality of life (HRQOL). Few studies have comprehensively evaluated the effects of botulinum toxin type A (BoNT-A) on these symptoms. OBJECTIVE: To prospectively assess the effects of BoNT-A on functional impairment associated with primary axillary hyperhidrosis. METHODS: Patients treated with BoNT-A 50 U per axilla at baseline were assessed 4 and 12 weeks later. Outcome measures included functional impairment as assessed by the Hyperhidrosis Disease Severity Scale and the Hyperhidrosis Impact Questionnaire and dermatology-specific HRQOL as assessed by the Dermatology Life Quality Index. RESULTS: At weeks 4 and 12 after BoNT-A treatment, 85% and 90% of patients achieved the a priori definition of treatment responder. Patients reported less occupational and emotional impairment, spent less time managing their hyperhidrosis, and had fewer difficulties in social situations. Adverse events were uncommon (5.5%), were mild, and did not require treatment. At study end, 53% of patients reported no dermatology-specific HRQOL impairment and 90% were satisfied with treatment. CONCLUSIONS: Significant, meaningful, rapid, and durable reductions in disease severity and functional impairment, as well as improvements in HRQOL, were seen following BoNT-A treatment. BoNT-A was safe and well tolerated, producing high levels of patient satisfaction. 相似文献
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Background. Surgical defects following the extirpation of cutaneous neoplasia may present challenges to the dermatologic surgeon. There are many repair options for an individual defect, including second-intention healing, primary closure, skin graft, and skin flap closure. The island pedicle flap is a random pattern advancement flap well suited to reconstruct a variety of small- to intermediate-sized soft tissue wounds.
Objective. To review the utility of the island pedicle flap in reconstructive dermatologic surgery and to detail the operative technique to achieve reproducible functional and esthetic results.
Methods. The method of flap reconstruction is presented. A variety of defects repaired with this technique are reviewed.
Results. The subcutaneous island pedicle flap yielded excellent functional and cosmetic repair of the presented defects with minimal operative morbidity. Secondary to a well-preserved central vascular pedicle, complications are infrequent.
Conclusions. The random pattern island pedicle flap is a versatile and robust flap used to repair a variety of soft tissue wounds in a single-stage procedure with reproducible operative outcomes. 相似文献
Objective. To review the utility of the island pedicle flap in reconstructive dermatologic surgery and to detail the operative technique to achieve reproducible functional and esthetic results.
Methods. The method of flap reconstruction is presented. A variety of defects repaired with this technique are reviewed.
Results. The subcutaneous island pedicle flap yielded excellent functional and cosmetic repair of the presented defects with minimal operative morbidity. Secondary to a well-preserved central vascular pedicle, complications are infrequent.
Conclusions. The random pattern island pedicle flap is a versatile and robust flap used to repair a variety of soft tissue wounds in a single-stage procedure with reproducible operative outcomes. 相似文献
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Pomaranski Mark R. MD Krull Edward A. MD Balle Mark R. MD 《Dermatologic surgery》2005,31(12):1720-1723
BACKGROUND: Surgical defects of the forehead are commonplace for the Mohs surgeon. The relaxed skin tension lines (RSTLs) of this region allow for repairs ranging from direct linear closures to more complex advancement flaps. Defects in which the longitudinal axis orients perpendicular to the RSTLs, whether secondary to wound shape or ease of tissue movement, present a somewhat more challenging problem. OBJECTIVE: To describe the use of the Z-plasty in repairing forehead surgical defects. METHOD: We illustrate two Mohs surgical cases in which the size and location of the forehead defect did not allow for a straightforward and cosmetically acceptable closure. Tissue mobility and defect shape permitted design and implementation of a Z-plasty. RESULTS: Use of the Z-plasty technique allowed a portion of the vertical incision line to be reoriented within the forehead RSTLs, producing a favorable cosmetic outcome. CONCLUSION: Forehead defects that are shaped such that the long axis is perpendicular to the RSTLs or located in a region where tissue mobility more easily permits a vertical closure can present a challenge for the reconstructive surgeon. Knowledge of tissue mechanics and use of rotation and advancement make the Z-plasty a favorable option in many of these situations. 相似文献