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1.
Artigo em Inglês | MEDLINE | ID: mdl-30951020

RESUMO

Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.

2.
J Pediatr Orthop ; 39(3): 130-135, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30730417

RESUMO

BACKGROUND: Early joint decompression associated to antibiotic therapy is the most important procedure to reduce joint damage in septic knee arthritis in children. Several joint decompression methods have been described such as arthrotomy with open debriding, arthroscopic drainage or needle joint aspiration. The aim of the present study was to determinate which patients with acute septic knee arthritis could be safely treated with needle joint aspiration. METHODS: Patients with an acute knee arthritis diagnosed between September 2003 and December 2013 in our children's tertiary hospital were retrospective review. All cases were initially treated with needle joint aspiration. Primary end-point was failure of joint aspiration. RESULTS: A total of 74 patients were included in the study. Forty-two (56.8%) were male and median age was 1.49 years. Mean delay between onset of symptoms and diagnosis was 3.6 days and in 25 (33.8%) cases patients needed more than 1 visit to the emergency room. Median C-reactive protein (CRP) value was 36.3 mg/L and was >20 mg/L in 59 (79.7%) cases. A total of 11 (14.9%) patients showed failure of the joint aspiration treatment between 3 and 21 days after initial joint aspiration. The stepwise forward logistic regression model only identified as independent predictor of joint aspiration failure an age older than 3 years old (odds ratio, 5.64; 95% confidence interval, 1.38-29.61; P=0.018). Joint aspiration did not fail in any patient younger than 12 months and neither in any patient younger than 3 years old with CRP value <20 mg/L. Otherwise, treatment failed in 38% of patients older than 3 years and in 16% of patients between 1 and 3 years with a CRP>20 mg/L. CONCLUSIONS: Septic knee arthritis treated with needle joint aspiration succeed in all patients younger than 1 year and in all patients between 1 and 3 years with a CRP<20 mg/L. Alternative treatment such as arthroscopy debridement should be early considered in patients older than 3 years and patients between 1 and 3 years with CRP>20 mg/L. LEVEL OF EVIDENCE: Level III.


Assuntos
Artrite Infecciosa/cirurgia , Articulação do Joelho , Paracentese/métodos , Tempo para o Tratamento , Fatores Etários , Antibacterianos/uso terapêutico , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/tratamento farmacológico , Proteína C-Reativa/análise , Pré-Escolar , Descompressão Cirúrgica/métodos , Intervenção Médica Precoce/métodos , Feminino , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Articulação do Joelho/patologia , Articulação do Joelho/cirurgia , Masculino , Estudos Retrospectivos , Resultado do Tratamento
3.
J Clin Orthop Trauma ; 8(Suppl 1): S1-S2, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28878530

RESUMO

Benign bone tumours are pathologies frequently encountered in archaeological human remains, with the most common being osteoma and osteochondroma. We present the case of a juvenile individual recovered from the Necropolis of Sharuna, Middle Egypt and dated to the end of Old Kingdom and First Intermediate Period of Ancient Egypt (circa 2150 BC), showing an osteochondroma arising from the proximal epiphysis of the right tibia which, in all likelihood, affected the patellar tendon in life. Osteochondromas are usually discovered during childhood and adolescence. These lesions are commonly located at the metaphysis and diaphysis of long bones and directed away from the joint, with the epiphysis being a rare location. To our knowledge, there have been no similar cases published to date from ancient times and we conclude that this is the oldest case of epiphyseal osteochondroma reported.

4.
Microsurgery ; 37(5): 410-415, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27117722

RESUMO

PURPOSE: The purpose of this report is to evaluate the results of extending vascularized fibular grafts (VFG) with vascularized periosteum (VPG) in bone defect reconstruction in children. METHODS: Retrospective study of 10 children, mean age at surgery was 9.8 years (range, 4-16 years). Origin of one defect was oncological (n = 5), septical (n = 2), traumatic (n = 2), or congenital (n = 1). In five cases the flap consisted of a VFG and a vascularized epiphyseal transfer (VFET) in five. Mean bone defect was 8.5 cm .Mean length of the vascularized periosteal extension was 5.5 cm (range 3.5-8) for VFET, 4.8 cm for VFG (range 3-8). Bone union was assessed with monthly radiographs. RESULTS: Radiographs showed a periosteal callus at 4 weeks in all cases. Bone union was achieved at a mean of 8.4 weeks (range 4-12). Donor site complications included two cases of flexor hallucis longus contracture, and one case of surgical wound marginal necrosis following FVG. One transient tibialis anterior weakness and one tibialis anterior contracture occurred following VFET harvest. None required surgical treatment. Mean follow-up was 28.7 months (range 7-72). CONCLUSIONS: The association of a vascularized periosteal extension with fibular flaps seems to accelerate flap to recipient bone union. © 2016 Wiley Periodicals, Inc. Microsurgery 37:410-415, 2017.


Assuntos
Transplante Ósseo/métodos , Fíbula/transplante , Periósteo/transplante , Procedimentos Cirúrgicos Reconstrutivos/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Fíbula/irrigação sanguínea , Seguimentos , Humanos , Masculino , Avaliação de Resultados (Cuidados de Saúde) , Periósteo/irrigação sanguínea , Estudos Retrospectivos
5.
J Pediatr Orthop ; 2016 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-27662387

RESUMO

BACKGROUND: Early joint decompression associated to antibiotic therapy is the most important procedure to reduce joint damage in septic knee arthritis in children. Several joint decompression methods have been described such as arthrotomy with open debriding, arthroscopic drainage or needle joint aspiration. The aim of the present study was to determinate which patients with acute septic knee arthritis could be safely treated with needle joint aspiration. METHODS: Patients with an acute knee arthritis diagnosed between September 2003 and December 2013 in our children's tertiary hospital were retrospective review. All cases were initially treated with needle joint aspiration. Primary end-point was failure of joint aspiration. RESULTS: A total of 74 patients were included in the study. Forty-two (56.8%) were male and median age was 1.49 years. Mean delay between onset of symptoms and diagnosis was 3.6 days and in 25 (33.8%) cases patients needed more than 1 visit to the emergency room. Median C-reactive protein (CRP) value was 36.3 mg/L and was >20 mg/L in 59 (79.7%) cases. A total of 11 (14.9%) patients showed failure of the joint aspiration treatment between 3 and 21 days after initial joint aspiration. The stepwise forward logistic regression model only identified as independent predictor of joint aspiration failure an age older than 3 years old (odds ratio, 5.64; 95% confidence interval, 1.38-29.61; P=0.018). Joint aspiration did not fail in any patient younger than 12 months and neither in any patient younger than 3 years old with CRP value <20 mg/L. Otherwise, treatment failed in 38% of patients older than 3 years and in 16% of patients between 1 and 3 years with a CRP>20 mg/L. CONCLUSIONS: Septic knee arthritis treated with needle joint aspiration succeed in all patients younger than 1 year and in all patients between 1 and 3 years with a CRP<20 mg/L. Alternative treatment such as arthroscopy debridement should be early considered in patients older than 3 years and patients between 1 and 3 years with CRP>20 mg/L. LEVEL OF EVIDENCE: Level III.

6.
Int Orthop ; 40(8): 1683-1688, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26996901

RESUMO

PURPOSE: The non-invasive expandable prosthesis for skeletally immature patients is used after limb salvage surgery following tumor resection. The aim of the study was to assess the effectiveness of this treatment. METHODS: Seven paediatric patients with femoral tumors had resection and limb salvage with an uncemented non-invasive growing prosthesis. Mean age at the time of surgery was 9.8 (range 8-12) years. There were six distal femur osteosarcomas and one proximal femur Ewing sarcoma. Six total knee prosthesis were implanted at the time of primary tumor resection and one bipolar hip prosthesis was a revision from a failed osteoarticular hip allograft. Functional outcomes and emotional acceptance were assessed using the MSTS score. RESULTS: The mean follow-up was 65.3 months (range 29-91) months. Two patients died of pulmonary metastasis and there was no local recurrence. The mean femoral resection was 18 cm (range 17-19) on the knee, and 24 cm on the hip. Mean total expansion was 36.4 mm (range 12.3-63.5). The mean MSTS score after rehabilitation was 26.3 (range 21-29). There was one lengthening device failure, one late infection and one patient who required iliofemoral bypass grafting surgery for a pelvic metastasis. No local recurrence occurred. CONCLUSIONS: The non-invasive expandable prosthesis reduces the final limb-length discrepancy in growing patients with an acceptable function and appears to have an advantage as compared to invasive expandable prostheses which require multiple surgical procedures, but the complications rate is still high.


Assuntos
Neoplasias Ósseas/cirurgia , Neoplasias Femorais/cirurgia , Articulação do Joelho/cirurgia , Salvamento de Membro/métodos , Osteossarcoma/cirurgia , Sarcoma de Ewing/cirurgia , Criança , Fêmur/cirurgia , Humanos , Prótese do Joelho , Recidiva Local de Neoplasia , Desenho de Prótese , Transplante Homólogo
8.
BMC Genomics ; 15: 91, 2014 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-24484525

RESUMO

BACKGROUND: Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved in this pathology and to identify potential biomarkers and therapeutic targets we have investigated the gene expression profile of human skeletal muscle deficient for TK2 using cDNA microarrays. RESULTS: We have analysed the whole transcriptome of skeletal muscle from patients with TK2 mutations and compared it to normal muscle and to muscle from patients with other mitochondrial myopathies. We have identified a set of over 700 genes which are differentially expressed in TK2 deficient muscle. Bioinformatics analysis reveals important changes in muscle metabolism, in particular, in glucose and glycogen utilisation, and activation of the starvation response which affects aminoacid and lipid metabolism. We have identified those transcriptional regulators which are likely to be responsible for the observed changes in gene expression. CONCLUSION: Our data point towards the tumor suppressor p53 as the regulator at the centre of a network of genes which are responsible for a coordinated response to TK2 mutations which involves inflammation, activation of muscle cell death by apoptosis and induction of growth and differentiation factor 15 (GDF-15) in muscle and serum. We propose that GDF-15 may represent a potential novel biomarker for mitochondrial dysfunction although further studies are required.


Assuntos
Perfilação da Expressão Gênica , Fator 15 de Diferenciação de Crescimento/genética , Miopatias Mitocondriais/genética , Timidina Quinase/genética , Proteína Supressora de Tumor p53/metabolismo , Adolescente , Adulto , Biomarcadores/metabolismo , Caspase 3/metabolismo , Criança , Pré-Escolar , Biologia Computacional , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Fator 15 de Diferenciação de Crescimento/sangue , Fator 15 de Diferenciação de Crescimento/metabolismo , Humanos , Lactente , Miopatias Mitocondriais/patologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Transdução de Sinais , Timidina Quinase/metabolismo
9.
PLoS One ; 8(10): e77430, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24223098

RESUMO

Ullrich congenital muscular dystrophy (UCMD), caused by collagen VI deficiency, is a common congenital muscular dystrophy. At present, the role of collagen VI in muscle and the mechanism of disease are not fully understood. To address this we have applied microarrays to analyse the transcriptome of UCMD muscle and compare it to healthy muscle and other muscular dystrophies. We identified 389 genes which are differentially regulated in UCMD relative to controls. In addition, there were 718 genes differentially expressed between UCMD and dystrophin deficient muscle. In contrast, only 29 genes were altered relative to other congenital muscular dystrophies. Changes in gene expression were confirmed by real-time PCR. The set of regulated genes was analysed by Gene Ontology, KEGG pathways and Ingenuity Pathway analysis to reveal the molecular functions and gene networks associated with collagen VI defects. The most significantly regulated pathways were those involved in muscle regeneration, extracellular matrix remodelling and inflammation. We characterised the immune response in UCMD biopsies as being mainly mediated via M2 macrophages and the complement pathway indicating that anti-inflammatory treatment may be beneficial to UCMD as for other dystrophies. We studied the immunolocalisation of ECM components and found that biglycan, a collagen VI interacting proteoglycan, was reduced in the basal lamina of UCMD patients. We propose that biglycan reduction is secondary to collagen VI loss and that it may be contributing towards UCMD pathophysiology. Consequently, strategies aimed at over-expressing biglycan and restore the link between the muscle cell surface and the extracellular matrix should be considered.


Assuntos
Colágeno Tipo VI/deficiência , Distrofias Musculares/metabolismo , Esclerose/metabolismo , Transcriptoma , Estudos de Casos e Controles , Criança , Retículo Endoplasmático/genética , Retículo Endoplasmático/metabolismo , Matriz Extracelular/metabolismo , Perfilação da Expressão Gênica , Genes MHC da Classe II , Humanos , Mitocôndrias/genética , Mitocôndrias/metabolismo , Anotação de Sequência Molecular , Terapia de Alvo Molecular , Músculo Esquelético/metabolismo , Distrofias Musculares/genética , Distrofias Musculares/terapia , Análise de Sequência com Séries de Oligonucleotídeos , Proteólise , Esclerose/genética , Esclerose/terapia
10.
J Neuropathol Exp Neurol ; 71(10): 894-906, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22975586

RESUMO

Ullrich congenital muscular dystrophy (UCMD) is a common form of muscular dystrophy associated with defects in collagen VI. It is characterized by loss of individual muscle fibers and muscle mass and proliferation of connective and adipose tissues. We sought to investigate the mechanisms by which collagen VI regulates muscle cell survival, size, and regeneration and, in particular, the potential role of the ubiquitin-proteasome and calpain-proteolytic systems. We studied muscle biopsies of UCMD (n = 6), other myopathy (n = 12), and control patients (n = 10) and found reduced expression of atrogin-1, MURF1, and calpain-3 mRNAs in UCMD cases. Downregulation of calpain-3 was associated with changes in the nuclear immunolocalization of nuclear factor-κB. We also observed increased expression versus controls of regeneration markers at the protein and RNA levels. Satellite cell numbers did not differ in collagen VI-deficient muscle versus normal nonregenerating muscle, indicating that collagen VI does not play a key role in the maintenance of the satellite cell pool. Our results indicate that alterations in calpain-3 and nuclear factor-κB signaling pathways may contribute to muscle mass loss in UCMD muscle, whereas atrogin-1 and MURF1 are not likely to play a major role.


Assuntos
Calpaína/fisiologia , Colágeno Tipo VI/deficiência , Fibras Musculares Esqueléticas/fisiologia , Proteínas Musculares/fisiologia , Atrofia Muscular/metabolismo , NF-kappa B/fisiologia , Regeneração/fisiologia , Transdução de Sinais/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fibras Musculares Esqueléticas/patologia , Músculo Esquelético/patologia , Músculo Esquelético/fisiologia , Atrofia Muscular/patologia , Distrofias Musculares/metabolismo , Distrofias Musculares/patologia , Adulto Jovem
11.
Pediatr Blood Cancer ; 57(1): 69-75, 2011 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-21384537

RESUMO

BACKGROUND: Reported overall survival (OS) rates of patients with localized Ewing sarcoma family of tumors (ESFT) are >80% when treated with the MSKCC P6 protocol. However, it has been associated with a 5.8% incidence of secondary leukemias. A modified P6 (mP6) protocol with reduced exposure to chemotherapy is presented. PROCEDURE: Thirty-one newly diagnosed ESFT patients were enrolled onto this phase II, single-arm, non-randomized protocol. Courses 1, 2 and 4 consisted of cyclophosphamide 4.2 g/m², doxorubicin 75 mg/m², and vincristine 2 mg/m² (CDV). Cycles 3 and 5 consisted of ifosfamide 9 g/m² and etoposide 500 mg/m² (IE). Course 5 ifosfamide was 14 g/m² if necrosis was <90%. RESULTS: Twenty-four patients had loco-regional disease and seven had metastases. The 4-year event-free survival (EFS) rate for patients with localized tumors is 83% and overall survival (OS) is 92%. The 3-year EFS rate for patients with distant metastases is 28% and OS rate is 42%. EWS-FLI1 fusion genes were detected in 17 cases (74%) and EWS-ERG in six cases (26%). Type 1 EWS-FLI1 variant was present in 6/7 metastatic patients and 3/16 loco-regional cases (P = 0.001). None of the patients experienced tumor progression before remission. All relapses occurred within 2 years from the end of treatment and local relapses (n = 3) happened in patients who did not receive radiation therapy. No secondary malignancies have been observed, median follow-up of 4.3 years for surviving patients. CONCLUSIONS: In this pilot study, the mP6 protocol produced a complete remission rate of 83% at 4 years in non-metastatic ESFT reducing the risk of secondary malignancies.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Etoposídeo/administração & dosagem , Ifosfamida/administração & dosagem , Sarcoma de Ewing/tratamento farmacológico , Vincristina/administração & dosagem , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Criança , Pré-Escolar , Ciclofosfamida/efeitos adversos , Intervalo Livre de Doença , Doxorrubicina/efeitos adversos , Etoposídeo/efeitos adversos , Feminino , Seguimentos , Humanos , Ifosfamida/efeitos adversos , Lactente , Masculino , Metástase Neoplásica , Proteínas de Fusão Oncogênica/metabolismo , Proteína Proto-Oncogênica c-fli-1/metabolismo , Proteína EWS de Ligação a RNA/metabolismo , Recidiva , Sarcoma de Ewing/metabolismo , Sarcoma de Ewing/mortalidade , Sarcoma de Ewing/patologia , Taxa de Sobrevida , Vincristina/efeitos adversos
12.
J Pediatr Orthop B ; 14(5): 371-4, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16093950

RESUMO

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 to November 2003 in a pediatric teaching hospital in Barcelona. We used US Centers for Disease Control and Prevention standard criteria to define nosocomial infection. Of the 121 patients included in the study, 33% had at least one episode of nosocomial infection, with an incidence rate of 9.9 infections per 100 admissions and 1.1 infections per 100 patient-days. The most frequent episode of nosocomial infection was bacteremia. Coagulase-negative staphylococci were the most common pathogens. Nosocomial infection rates per 100 device-days were 3.2 for bacteremia, 1.6 for respiratory infection and 1.0 for urinary tract infection. These findings suggest the need to evaluate infection control measures aimed at reducing the morbidity associated with infections.


Assuntos
Infecção Hospitalar/epidemiologia , Ferimentos e Lesões/epidemiologia , Bacteriemia/epidemiologia , Cateterismo Venoso Central , Criança , Infecção Hospitalar/microbiologia , Feminino , Hospitais de Ensino , Humanos , Incidência , Tempo de Internação , Masculino , Nutrição Parenteral , Estudos Prospectivos , Respiração Artificial , Fatores de Risco , Espanha/epidemiologia , Índices de Gravidade do Trauma , Infecções Urinárias/epidemiologia
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