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991.
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Carmen Martinez Peinado M.D. Cristina Díaz de Heredia M.D. Jordi To‐Figueras M.D. Salvador Arias‐Santiago M.D. Paloma Nogueras M.D. Izaskun Elorza M.D. Teresa Olivé M.D. Célia Bádenas M.D. Mª José Moreno M.D. Jesús Tercedor M.D. Carmen Herrero M.D. Ph.D. 《Pediatric dermatology》2013,30(4):484-489
Congenital erythropoietic porphyria (CEP), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthesis pathway. This enzymatic defect induces the accumulation of isomer I porphyrins in erythrocytes, skin, and tissues, producing various clinical manifestations. Severe cases are characterized by extreme photosensitivity, causing scarring and mutilations, and by hemolytic anemia, reducing life expectancy. CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein (C73R). CEP has been successfully treated only by the transplantation of hematopoietic precursors. We report the case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation. He underwent successful allogeneic bone marrow transplantation from a matched unrelated donor at 7 months of age. The hemolytic anemia was corrected and the porphyrin overproduction was significantly reduced. The patient remained asymptomatic after 1 year. This new case confirms that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation. 相似文献
993.
P. López Cubillana A. Prieto González J.I. Tornero Ruiz A.I. López López E. Cao Avellaneda G. Server Pastor J.F. Escudero P.A. López González G. Doñate J.C. Ruiz Morcillo G. Gómez Gómez M. Pérez Albacete 《Actas urologicas espa?olas》2010,34(2):186-188
ObjectiveTo assess the outcome of hand-assisted laparoscopic nephrectomy in patients with significant complicating clinical factors.MethodsA retrospective assessment was made of 100 laparoscopic nephrectomies performed at a single hospital from 2001 to 2005. Patients with a history of prior abdominal surgery, prior procedures on the involved kidney, evidence of perirenal inflammation, renal lesions 10 cm or more in diameter, or level I renal vein thrombosis were enrolled.ResultsTwelve patients were enrolled. Of these, 5 had a lesion at least 10 cm in diameter, 2 had renal vein thrombosis, and 5 reported major abdominal surgery. Most patients had more than one of these findings. Three patients showed inflammatory conditions (staghorn calculi) and a T4 renal tumor was successfully treated without conversion to open surgery. Mean operating time and blood loss were 210 minutes and 310 ml respectively, while mean length of hospital stay was 3 days. No patient required conversion to open surgery.ConclusionsHand-assisted laparoscopic nephrectomy is an attractive minimally invasive option for technically challenging tumors and has reasonable operating times, blood losses, and complication rates. 相似文献
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Epidermal growth factor receptor (EGFR) expression in periocular and extraocular sebaceous carcinoma
Doina Ivan Victor G. Prieto Bita Esmaeli Ignacio I. Wistuba Ximing Tang Alexander J. F. Lazar 《Journal of cutaneous pathology》2010,37(2):231-238
Sebaceous carcinoma has a predominant periocular origin but can also be extraocular. These two groups have distinct clinical courses. Insight into the molecular determinants of tumorigenesis and metastasis is limited. There is no effective treatment for metastatic sebaceous carcinoma. Epidermal growth factor receptor (EGFR) is implicated in tumorigenesis and can be a therapeutic target in certain settings. We evaluated EGFR levels by immunohistochemistry (IHC), comparing its expression between periocular and extraocular tumors and assessed EGFR mutation status. IHC was performed in 36 cases: 19 periocular and 17 extraocular (10 associated with Muir‐Torre syndrome—MTS). EGFR IHC was scored for percentage of positive cells (< 5%, 5–25%, 26–50%, > 50%) and intensity (+1 = low , +2 = moderate , +3 = high ). Extraocular carcinomas showed markedly increased levels of EGFR when compared to periocular carcinoma cases, both in terms of distribution (88% were > 25% of tumor cells vs. 16%) and intensity (77% were 2+ or 3+ vs. 21%) (p < 0.001). Among extraocular cases, there was significantly lower EGFR expression in MTS‐related cases (p < 0.05). No EGFR mutations were identified. Our results underscore the divergent mechanisms underlying the tumorigenesis of periocular and extraocular sebaceous carcinoma and suggest an association between aggressive behavior and increased EGFR expression in extraocular sebaceous carcinoma. Ivan D, Prieto VG, Esmaeli B, Wistuba II, Tang X, Lazar AJF. Epidermal growth factor receptor (EGFR) expression in periocular and extraocular sebaceous carcinomas. 相似文献
997.
Milaid Granadillo Aileen Batte Aracelys Blanco Alain B. Alfonso José Suárez Nelson Merino Rosalina Carballo Bárbara O. González Yayrí C. Prieto Laura Varas Dayana Soler Miladys Limonta Maelys Miyares Lizet Aldana Isis Torrens 《Clinical & experimental metastasis》2017,34(3-4):241-249
One important goal of cancer immunotherapy is to prevent and treat tumor metastasis. We have previously reported the significant antitumor effect induced by the immunization with our human papillomavirus therapeutic protein-based vaccine (LALF32-51-E7) without adjuvant and admixed with clinically relevant adjuvants in the subcutaneous TC-1 tumor challenge model. In the present study, we evaluated the efficacy of the above mentioned vaccine formulations in controlling the hematogenous spread of TC-1 tumor cells using a more tumourigenic clone named TC-1* and other intravenous injection site less stressful than the tail vein. We generated a lung metastasis model by injecting TC-1* cells into the retro-orbital venous sinus and this is the first study describing it. Also, this is the first study that demonstrates the efficacy of the immunization with LALF32-51-E7 without adjuvant and admixed with VSSP or Al(OH)3 in controlling metastatic tumors increasing the survival of the mice. Our TC-1 lung metastasis model can be used to test the efficacy of other immunotherapeutic strategies based on E6/E7 antigens. 相似文献
998.
Eduardo Redondo-Cerezo Antonio Damián Sánchez-Capilla Paloma De La Torre-Rubio Javier De Teresa 《World journal of gastroenterology : WJG》2014,20(42):15664-15673
Wireless capsule endoscopy (CE) is a technology developed for the endoscopic exploration of the small bowel. The first capsule model was approved by the Food and Drug Administration in 2001, and its first and essential indication was occult gastrointestinal (GI) bleeding. Over subsequent years, this technology has been refined to provide superior resolution, increased battery life, and capabilities to view different parts of the GI tract. Indeed, cases for which CE proved useful have increased significantly over the last few years, with new indications for the small bowel and technical improvements that have expanded its use to other parts of the GI tract, including the esophagus and colon. The main challenges in the development of CE are new devices with the ability to provide therapy, air inflation for a better vision of the small bowel, biopsy sampling systems attached to the capsule and the possibility to guide and move the capsule with an external motion control. In this article we review the current and new indications of CE, and the evolving technological changes shaping this technology, which has a promising potential in the coming future of gastroenterology. 相似文献
999.
1000.
The clinical and immunological effects of Pru p 3 sublingual immunotherapy on peach and peanut allergy in patients with systemic reactions
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