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91.
Julio C. Alcántara‐Montiel Tamara Staines‐Boone Gabriela López‐Herrera Laura Berrón‐Ruiz Carlos R. Borrego‐Montoya Leopoldo Santos‐Argumedo 《European journal of immunology》2016,46(10):2438-2443
Hyper IgE syndrome (HIES) is characterized by recurrent skin abscesses, eczema, pneumonia, and high levels of serum IgE. Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. Somatic mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. In this report, we describe one patient with classical HIES and another patient with a mild phenotype, both harboring the same genetic mutation. The patient with a mild phenotype did not present the characteristic face, had normal production of IL‐17A by T CD4+ cells, but had low phosphorylation of STAT‐3 in B cells. Interestingly, the mutation found in B cells was absent in other cell types analyzed, in agreement with the presence of a somatic mosaic genotype. The clinical and functional differences observed between these patients justify the use of complementary tools for a better definition of the cases. These approaches allow for a better understanding of complex phenotypes associated with somatic mosaicisms, and present the possibility to analyze the role of B lymphocytes in the pathophysiology of this disease. This knowledge has an impact on not only the treatment but also the provision of appropriate genetic counseling. 相似文献
92.
Congenital melanocytic nevi can be cosmetically disfiguring, give rise to melanoma, and suggest the presence of neurocutaneous melanocytosis. Management decisions must be tailored for each patient and each nevus, taking into consideration the risk for developing malignancy, risk for developing symptomatic neurocutaneous melanocytosis, cosmetic implications of having the nevus, cosmetic implications of any resultant surgical scars from their removal, adverse effects that the nevus may have on psycho-social development, and the adverse effects and long-term sequelae of any surgical intervention. The advantages and disadvantages of different modalities used in the treatment of congenital melanocytic nevi are discussed. Organizational flow diagrams are presented to help clinicians in managing patients with different sized congenital melanocytic nevi. 相似文献
93.
Marcos I Borrego S Urioste M García-Vallés C Antiñolo G 《The Journal of pediatrics》2006,148(6):837-839
Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC. 相似文献
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Noam Ponde Ian Bradbury Matteo Lambertini Michael Ewer Christine Campbell Helene Ameels Dimitrios Zardavas Serena Di Cosimo José Baselga Jens Huober Miguel Izquierdo Debora Fumagalli Ivana Bozovic-Spasojevic Marion Maetens Nadia Harbeck Lajos Pusztai Michael Berghorn Young-Hyuck Im Manuel Ruiz Borrego Dar-Ren Chen Richard Rodeheffer Martine Piccart Thomas Suter Evandro de Azambuja 《Breast cancer research and treatment》2018,168(3):631-638
Background
Biomarkers of cardiac damages, such as troponin T (TnT) and the amino-terminal fragment of brain natriuretic peptide (NT-proBNP), may be useful as early predictors of cardiac dysfunction. The role of these biomarkers in patients receiving lapatinib and/or trastuzumab before anthracyclines is unknown. This study explores TnT and NT-proBNP as predictors of early cardiac toxicity in neoadjuvant breast cancer patients.Methods
This sub-study of the NEOALTTO trial tested if changes in the levels of TnT and NT-proBNP occurred after 2 weeks of anti-HER2 therapy (lapatinib, trastuzumab or their combination) alone and/or after 18 weeks of anti-HER2 therapy plus weekly paclitaxel.Results
173 and 172 were tested at all three timepoints for NT-proBNP and TnT, respectively. The incidence of biomarker elevation was overall low at all timepoints for all the three treatment arms. A total of 13 CEs in 11 patients occurred. Biomarker elevations in patients with CEs were very rare; only one patient with subsequent CE had a NT-proBNP elevation at baseline and at week 2.Conclusion
These results suggest that TnT and proBNP may not be useful as early predictors of cardiac toxicity in anthracycline-naïve patients receiving trastuzumab and/or lapatinib.96.
Jose‐Alberto Fernandez‐Alvarez M.D. Fernando Barrera‐Pulido M.D. Araceli Lagares‐Borrego M.D. Rocio Narros‐Gimenez M.D. Purificación Gacto‐Sanchez M.D. Ph.D. Tomas Gomez‐Cia M.D. Ph.D. 《Microsurgery》2017,37(2):119-127
Abdominal wall defects are a challenge for reconstructive surgeons. Although the utility of anterolateral thigh perforator (ALT) flap has been well established for lower abdominal wall reconstruction, pedicled ALT flap is usually not considered for supraumbilical defects in the most recent algorithms. The purpose of this paper is to report the results of a tunneled pedicled ALT flap for reconstruction of supraumbilical defect from a series of patients. From July 2009 to September2014, six patients underwent delayed abdominal wall coverage using pedicled ALT flaps and reinforcement with polypropylene meshes. Defects occurred after surgical complications and abdominal trauma. Flaps were tunneled beneath the rectus femoris and sartorius muscles to increase the pedicle length. The size of the skin islands ranged from 22–29 × 10–14 cm. All flaps survived and the healing of the wounds was successful. Partial dehiscence of donor site occurred in one patient, and small wound dehiscence due to minimal distal necrosis was observed in another patient. No functional problems were reported in donor site, and no complications occurred in 6–68 months of follow‐up. The tunneled pedicled ALT flap may provide a reliable alternative method for abdominal wall reconstruction, including supraumbilical defects. © 2015 Wiley Periodicals, Inc. Microsurgery 37:119–127, 2017. 相似文献
97.
Estrella Borrego Paredes Pablo Barrena Sánchez David Serrano Toledano Andrés I. Puente González Salvador Fornell Pérez Gabriel Domecq Fernández de Bobadilla 《The Journal of arthroplasty》2017,32(1):193-196
Background
The loss of anatomic references and bone stock turns unicompartmental knee arthroplasty (UKA) revision surgery difficult, and according to some authors, it is technically as challenging as a total knee arthroplasty (TKA) revision surgery.Methods
A retrospective review of 559 Oxford medial UKA was performed between 2007 and 2013. Nineteen knees were revised to TKA for reasons other than infection, most commonly for osteoarthritis progression.Results
The most frequent cause of failure in our series was osteoarthritis progression (10 cases, 52.63%). In 15 patients (78.95%), tibial stems were needed, and in 10 (55.5%), metallic blocks for augmentation of tibial plateau were used. Postoperative radiographic studies showed a correct implant alignment, preserving adequate joint line (24.8 mm), and patellar (1.1 mm) height (according to Insall-Salvati). After a mean follow-up of 21 months (range 6-51) mean values of 78.8 (standard deviation [SD] = 16.8) and 62.3 (SD = 19.6) were obtained for the physical and mental scores of the Knee Society Score test. In the SF-36 tests mean values of 45.2 (SD = 7.6) and 53 (SD = 5.2) were obtained for the physical and mental scores respectively. In one case, a varus/valgus instability occurred intraoperatively and it required revision with a prosthesis with higher constriction. No thromboembolic or infectious events were observed during postoperative follow-up.Conclusion
Following a standardized technique, UKA revision surgery can be achieved with TKA in almost every case despite bone stock loss and lack of anatomic landmarks. 相似文献98.
Guedes Marta Catarina Esteves Arroz Maria Jorge Martins Catarina Angelo-Dias Miguel Proença Rui Daniel Borrego Luis Miguel 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2020,258(6):1269-1278
Graefe's Archive for Clinical and Experimental Ophthalmology - Regulatory T cells (Tregs) have been intensively studied in a myriad of autoimmune diseases. As for noninfectious uveitis (NIU),... 相似文献
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100.