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Krempien RC Grehn C Haag C Straulino A Hensley FW Kotrikova B Hofele C Debus J Harms W 《Brachytherapy》2005,4(2):154-162
PURPOSE: Brachytherapy re-irradiation may offer an alternative re-treatment of recurrent head-and-neck cancer even after previous full dose radiation therapy. The purposes of this study were to determine the feasibility and accuracy of frameless image-guided interstitial needle implantation. METHODS AND MATERIALS: Between January 2000 and March 2003, 14 patients with biopsy-proven locally recurrent head-and-neck-cancer were retreated after previous full dose irradiation with combined external beam-brachytherapy with concomitant chemotherapy. Brachytherapy needle implantation was virtually planned taking into account the surrounding risk structures. Needles were implanted using an adapted frameless navigation system. Chemoradiotherapy was followed by 2-4 courses of chemotherapy every fourth week starting 4 weeks after the end of brachytherapy. RESULTS: The 1- and 2-year local control rates were 78% and 57%, respectively. Local control was obtained in 8/14 patients. The actuarial 1- and 2-year survival rates were 83% and 64%, respectively. The median survival was 28 months after a median follow-up of 21 months (range, 8-53). Six weeks after brachytherapy, 1 patient developed localized soft tissue necrosis which did not require surgical intervention. No additional grade III or IV late toxicity was seen after re-irradiation. Mean deviation of image-guided needle implantation was 3.4 mm for each needle (SD, 1.9 mm; range, 0.5-14 mm). The mean deviation of all needles of an implant was 4.3 mm (range, 2.3-8.6 mm). CONCLUSIONS: These data demonstrate that pulsed-dose-rate brachytherapy in combination with sequential chemotherapy is effective and safe in re-irradiation of locally recurrent oropharyngeal carcinomas and can be offered to patients with curative intent. Image guidance allows virtual planning and navigated implantation of brachytherapy needles with regard to optimized needle distribution and risk structures. 相似文献
73.
Grillo E Pérez-García B González-García C Vano-Galván S Jaén-Olasolo P 《Dermatology online journal》2012,18(6):8
Spiny keratoderma is an infrequent dermatosis consisting of multiple projections located on the palms and soles, with the distinct histopathology feature of a parakeratotic column above a hypogranular epidermis. This entity has been reported under several different names, such as punctate porokeratotic keratoderma, punctate keratoderma, palmar filiform hyperkeratosis, and spiny keratoderma of the palms and soles. Most of the cases described are acquired, although there are also familial cases. Since this disease has been under-diagnosed and under-reported, it is important for dermatologists to keep spiny keratoderma of the palms and soles in mind. We present a familial case of spiny keratoderma and review the literature. 相似文献
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Bibiana K. Y. Wong V. Reid Sutton 《American journal of medical genetics. Part C, Seminars in medical genetics》2018,178(4):423-431
Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. It is now recognized that individuals with Aicardi syndrome commonly exhibit a variety of other neuronal migration defects, eye anomalies, and other somatic features, including skin, skeletal, and craniofacial systems. The etiology of Aicardi syndrome remains unknown despite an international effort exploring different genetic mechanisms. Although various technologies examining candidate genes, copy number variation, skewing of X-chromosome inactivation, and whole-exome sequences have been explored, no strong genetic candidates have been identified to date. New technologies that can detect low-level mosaicism and balanced rearrangements, as well as platforms examining changes at the DNA and chromatin level affecting regulatory regions are all potential avenues for future studies that may one day solve the mystery of the etiology of Aicardi syndrome. 相似文献
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Uribe V Wong BK Graham RK Cusack CL Skotte NH Pouladi MA Xie Y Feinberg K Ou Y Ouyang Y Deng Y Franciosi S Bissada N Spreeuw A Zhang W Ehrnhoefer DE Vaid K Miller FD Deshmukh M Howland D Hayden MR 《Human molecular genetics》2012,21(9):1954-1967
Apoptosis, or programmed cell death, is a cellular pathway involved in normal cell turnover, developmental tissue remodeling, embryonic development, cellular homeostasis maintenance and chemical-induced cell death. Caspases are a family of intracellular proteases that play a key role in apoptosis. Aberrant activation of caspases has been implicated in human diseases. In particular, numerous findings implicate Caspase-6 (Casp6) in neurodegenerative diseases, including Alzheimer disease (AD) and Huntington disease (HD), highlighting the need for a deeper understanding of Casp6 biology and its role in brain development. The use of targeted caspase-deficient mice has been instrumental for studying the involvement of caspases in apoptosis. The goal of this study was to perform an in-depth neuroanatomical and behavioral characterization of constitutive Casp6-deficient (Casp6-/-) mice in order to understand the physiological function of Casp6 in brain development, structure and function. We demonstrate that Casp6-/- neurons are protected against excitotoxicity, nerve growth factor deprivation and myelin-induced axonal degeneration. Furthermore, Casp6-deficient mice show an age-dependent increase in cortical and striatal volume. In addition, these mice show a hypoactive phenotype and display learning deficits. The age-dependent behavioral and region-specific neuroanatomical changes observed in the Casp6-/- mice suggest that Casp6 deficiency has a more pronounced effect in brain regions that are involved in neurodegenerative diseases, such as the striatum in HD and the cortex in AD. 相似文献
80.
Oscar Pacheco Suzanne M. Newton Marcela Daza Jordan E. Cates Javier Alberto Madero Reales Veronica K. Burkel Marcela Mercado Shana Godfred‐Cato Maritza Gonzalez Kayla N. Anderson Kate R. Woodworth Diana Valencia Van T. Tong Suzanne M. Gilboa May Bibiana Osorio Dora Yurany Snchez Rodríguez Franklyn Edwin Prieto‐Alvarado Cynthia A. Moore Margaret A. Honein Martha L. Ospina Martínez 《Paediatric and perinatal epidemiology》2021,35(1):92-97