A5041502618- Sarcoma Diagnosis and Treatment
- Bone Tumor Diagnosis and Treatments
- Orthopedic Infections and Treatments
- Infectious Diseases and Tuberculosis
- Streptococcal Infections and Treatments
- Muscle Physiology and Disorders
- Tumors and Oncological Cases
- Management of metastatic bone disease
- Musculoskeletal synovial abnormalities and treatments
- Hematological disorders and diagnostics
- Orthopaedic implants and arthroplasty
- Osteoarthritis Treatment and Mechanisms
- Bone fractures and treatments
- Reconstructive Surgery and Microvascular Techniques
- Nosocomial Infections in ICU
- Total Knee Arthroplasty Outcomes
- Cancer-related molecular mechanisms research
- Connective Tissue Growth Factor Research
- Neuroblastoma Research and Treatments
- Osteomyelitis and Bone Disorders Research
- Bone and Joint Diseases
- Sepsis Diagnosis and Treatment
- TGF-β signaling in diseases
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
Hospital Sant Joan de Déu Barcelona
2005-2023
Hospital Universitario Miguel Servet
2023
Universitat de Barcelona
2016-2023
Orthopedic One
2019
Hospital Universitari Sagrat Cor
2017
Centre for Biomedical Network Research on Rare Diseases
2013
Hospital Materno-Infantil
2013
Universitat Autònoma de Barcelona
2012
Abstract Background Mutations in the gene encoding thymidine kinase 2 (TK2) result myopathic form of mitochondrial DNA depletion syndrome which is a encephalomyopathy presenting children. In order to unveil some mechanisms involved this pathology and identify potential biomarkers therapeutic targets we have investigated expression profile human skeletal muscle deficient for TK2 using cDNA microarrays. Results We analysed whole transcriptome from patients with mutations compared it normal...
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% 30% cases, respectively. We undertaken a mutation analysis EXT2 in 39 unrelated Spanish patients, most them with moderate phenotype looked genotype-phenotype correlations. found mutant allele 37 29 8 EXT2. Five mutations were deletions identified MLPA. cases mosaicism documented....
Abstract The goals of this work were to identify factors favoring patient‐derived xenograft (PDX) engraftment and study the association between PDX prognosis in pediatric patients with Ewing sarcoma, osteosarcoma, rhabdomyosarcoma. We used immunodeficient mice establish 30 subcutaneous from patient tumor biopsies, a successful rate 44%. Age greater than 12 years relapsed disease associated higher rate. Tumor type biopsy location did not associate engraftment. models retained histology...
Ullrich congenital muscular dystrophy (UCMD), caused by collagen VI deficiency, is a common dystrophy. At present, the role of in muscle and mechanism disease are not fully understood. To address this we have applied microarrays to analyse transcriptome UCMD compare it healthy other dystrophies. We identified 389 genes which differentially regulated relative controls. In addition, there were 718 expressed between dystrophin deficient muscle. contrast, only 29 altered Changes gene expression...
Ullrich congenital muscular dystrophy (UCMD) is a common form of associated with defects in collagen VI. It characterized by loss individual muscle fibers and mass proliferation connective adipose tissues. We sought to investigate the mechanisms which VI regulates cell survival, size, regeneration and, particular, potential role ubiquitin-proteasome calpain-proteolytic systems. studied biopsies UCMD (n = 6), other myopathy 12), control patients 10) found reduced expression atrogin-1, MURF1,...
Purpose The purpose of this report is to evaluate the results extending vascularized fibular grafts (VFG) with periosteum (VPG) in bone defect reconstruction children. Methods Retrospective study 10 children, mean age at surgery was 9.8 years (range, 4–16 years). Origin one oncological ( n = 5), septical 2), traumatic or congenital 1). In five cases flap consisted a VFG and epiphyseal transfer (VFET) five. Mean 8.5 cm .Mean length periosteal extension 5.5 (range 3.5–8) for VFET, 4.8 3–8)....
Abstract Background Reported overall survival (OS) rates of patients with localized Ewing sarcoma family tumors (ESFT) are >80% when treated the MSKCC P6 protocol. However, it has been associated a 5.8% incidence secondary leukemias. A modified (mP6) protocol reduced exposure to chemotherapy is presented. Procedure Thirty‐one newly diagnosed ESFT were enrolled onto this phase II, single‐arm, non‐randomized Courses 1, 2 and 4 consisted cyclophosphamide 4.2 g/m , doxorubicin 75 mg/m...
Abstract Background To review the safety and efficacy of percutaneous cryoablation for treatment chondroblastoma osteoblastoma in pediatric adolescent population. Materials methods A retrospective from 2016 to 2020 was performed evaluate clinical imaging response 11 symptomatic patients with diagnosis treated two hospitals at least 12-month follow-up. Technical success (correct needle placement potential full coverage tumor planned ablation zone) (relief symptoms) were evaluated. The primary...
Background: Early joint decompression associated to antibiotic therapy is the most important procedure reduce damage in septic knee arthritis children. Several methods have been described such as arthrotomy with open debriding, arthroscopic drainage or needle aspiration. The aim of present study was determinate which patients acute could be safely treated Methods: Patients an diagnosed between September 2003 and December 2013 our children’s tertiary hospital were retrospective review. All...
Joint Diseases and Related Surgery (JDRS), the official journal of Turkish Foundation, is an international, peer-reviewed, immediate open access journal. All published articles in JDRS has been free for everyone, without embargo, since 1990.
Chondroblastomas are uncommon primary bone tumors localized in long epiphyses children and young adults. The risk of metastasis is rare, but they have a high capacity for local recurrence. Surgical curettage with grafting or substitute the preferred treatment.
In this article we intend to describe the epidemiological profile of nosocomial infection in pediatric patients with multiple trauma. We conducted a prospective study from July November 2003 teaching hospital Barcelona. used US Centers for Disease Control and Prevention standard criteria define infection. Of 121 included study, 33% had at least one episode infection, an incidence rate 9.9 infections per 100 admissions 1.1 patient-days. The most frequent was bacteremia. Coagulase-negative...
Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense lesions, which could be interpreted as metastasis. The symmetric distribution, lack of destruction, and location differentiate OPK from metastatic disease. It essential to aware this benign condition prevent diagnostic errors. We present the case 10-year-old female patient with concurrent diagnosis secreting mixed germ cell tumor Yolk Salk Tumor compound OPK. Physical examination disclosed an abdominal mass,...