RESUMO
BACKGROUND: Ewing sarcoma (ES) is an aggressive bone or extraosseous tumour with an unfavourable prognosis when bone marrow metastases are present at diagnosis. The gold standard diagnosis for bone marrow (BM) involvement is cytological and pathological analysis through bone marrow aspiration and biopsy (BMAB). Several recent studies suggest that these invasive and painful procedures could be replaced by 18F-fluorodeoxyglucose-positron emission tomography/computed tomography ((18)FDG-PET/CT), as this nuclear imaging technique is highly sensitive at detecting bone and extraosseous metastases of ES. METHODS: In order to study the precision of (18)FDG-PET/CT in the evaluation of bone marrow metastases at diagnosis, we compared the imaging results with cytological/histological analyses performed on BM samples. We retrospectively studied 180 patients with ES recorded at the Léon Bérard Centre over the past 10 years, who were evaluated by (18)FDG-PET/CT and BMAB at diagnosis. RESULTS: Of the 180 patients, 13 displayed marrow metastases by cytological/histological examination, and only one of these did not have (18)FDG-PET/CT signs of bone marrow involvement, whereas the 167 remaining patients without marrow metastasis all had a negative (18)FDG-PET/CT, except for one. Hence, the sensitivity and specificity of (18)FDG-PET/CT in these patients was 92.3% and 99.4%, respectively. The overall survival at five years of all patients was 67.4% but decrease to 38.5% in the group with bone marrow metastases. CONCLUSION: Given the results presented herein the bone sarcoma group of the French Sarcoma Group suggests that invasive BMAB no longer be systematically performed for the staging at the diagnosis of ES.
Assuntos
Neoplasias da Medula Óssea , Neoplasias Ósseas , Sarcoma de Ewing , Sarcoma , Humanos , Sarcoma de Ewing/diagnóstico por imagem , Sarcoma de Ewing/patologia , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Estudos Retrospectivos , Compostos Radiofarmacêuticos , Neoplasias Ósseas/secundário , Tomografia por Emissão de Pósitrons , Biópsia , Sarcoma/patologia , Neoplasias da Medula Óssea/diagnóstico por imagem , Neoplasias da Medula Óssea/patologiaRESUMO
OBJECTIVES: The objective of our manuscript is to review the current state of research on the genetics of male infertility, highlighting the genetic abnormalities that can lead to non-syndromic male infertility and genetic testing proposed to patients. It is intended primarily for clinicians and biologists of reproductive medicine. METHODS: A comprehensive review of the scientific literature available on PubMed was conducted using keywords related to male infertility and genetics. Since the first genes related to non-syndromic male infertility were identified after the 2000s, bibliographic research was conducted after this date. RESULTS: Thirty-three genes have been identified as responsible for non-syndromic male infertility. The evolution of techniques based on whole genome analysis has allowed the development of more successful methods in the identification of new genes and mutations inducing an infertility phenotype. Through this article, we propose, by concrete examples, a clinical approach for genetic tests considering the semen analysis alterations. CONCLUSIONS: The identification and characterization of these genes and the mutations responsible for certain infertility phenotypes allow better management and better treatment for patients as well as a better understanding of the physiopathological mechanisms of human gametogenesis.
Assuntos
Infertilidade Masculina/genética , Azoospermia/genética , Testes Genéticos , Estudo de Associação Genômica Ampla , Humanos , Masculino , Mutação , Oligospermia/genética , Espermatogênese/genética , Espermatozoides/anormalidades , Espermatozoides/fisiologiaRESUMO
The authors report their experience of digital lengthening and analyze the indications and results of 12 cases performed over 13 years in the plastic and reconstructive surgery service of the Kassab institute. Distraction was performed using a mini-orthofix device. In majority of cases, the procedure was performed on young people, manual workers and victims of industrial accidents. The lengthened osseous segment was the 1st metacarpal in 7 cases, the proximal phalanx of the index in 3 cases, the 3rd metacarpal once and the proximal phalanx of the middle finger in one case. Gradual distraction at the rate of 0.25 to 0.5 mm/day was carried out in 10 cases using the procedure of "callotasis". In 2 cases the distraction was performed at a rate of 1 mm/day followed by bone graft. Callotasis allowed us to obtain an average lengthening of 17 mm (61.5%) in distraction of the phalanx, and 26 mm (63.3%) in distraction of the first metacarpal. This technique avoids the spontaneous shortening observed after the use of bone graft alone. Complications are relatively frequent but had little influence on the final result.
Assuntos
Dedos/patologia , Traumatismos da Mão/terapia , Osteogênese por Distração/métodos , Adolescente , Adulto , Transplante Ósseo , Feminino , Traumatismos da Mão/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
The authors report 5 cases of chondrosarcoma of the hand brought together over a period of 20 years. The series comprises 3 men and 2 woman of average age 42 years. In two cases the tumour arose from degeneration in a preexisting lesion of Ollier's disease. Diagnosis was made on clinical and radiological criteria. Confirmation of the diagnosis by histological examination proved to be difficult in 2 cases. The treatment was surgical, with ray amputation in 3 cases and curettage with bone graft in the other 2. None of the patients had a recurrence at 4.5 years mean follow-up.
Assuntos
Neoplasias Ósseas/cirurgia , Condrossarcoma/cirurgia , Adolescente , Adulto , Idoso , Amputação Cirúrgica , Neoplasias Ósseas/diagnóstico por imagem , Transplante Ósseo , Condrossarcoma/diagnóstico por imagem , Curetagem , Diagnóstico Diferencial , Encondromatose/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RadiografiaRESUMO
The carpal scaphoid is an uncommon localization for chondroma. Ten cases have been reported in the literature. We report a new case of right carpal scaphoid chondroma complicated by fracture in a 30 year-old man. The diagnosis was strongly suggested by the computed tomography scan and confirmed at pathology examination of the operative specimen. Treatment consisted in tumor enucleation and a cortico-cancellous graft to fill the gap followed by plaster case immobilization. Clinical and radiological outcome was favorable.
Assuntos
Neoplasias Ósseas/complicações , Condroma/complicações , Fraturas Espontâneas/etiologia , Osso Escafoide/lesões , Adulto , Humanos , MasculinoRESUMO
A quantitative genetics approach was developed to identify the genomic regions that control relative water content (RWC) in field-grown barley. The trait was previously demonstrated to be a relevant screening tool of drought-tolerance in cereals, as well as a good indicator of plant water-status. The trait was measured at the heading stage on flag leaves recorded from 167 recombinant inbred lines grown in several Mediterranean sites (Montpellier, France; Meknès, Morocco; Le Kef, Tunisia). The results obtained confirmed that several genomic regions are implicated in the total phenotypic variation of RWC. A total of nine chromosomal regions were identified. One region situated on the long arm of chromosome 6H contains the most-consistent QTL obtained in the present study. This region was previously identified as controlling RWC, as well as leaf osmotic potential under water stress and osmotic adjustment, from an experiment conducted in growth-chamber conditions with the same genetic background. The confirmation of the role of this region in the genetic control of water and turgor status underlined its interest for breeding purposes in the Mediterranean area. In addition, the presence of several dehydrin loci in the same chromosomal area reinforce its interest for genomics analyses to confirm, or not to confirm, the implication of these genes in the variation of RWC.
Assuntos
Meio Ambiente , Genes de Plantas/genética , Hordeum/genética , Locos de Características Quantitativas , Água/metabolismo , Mapeamento Cromossômico , Cruzamentos Genéticos , DNA de Plantas/genética , Ligação Genética , Marcadores Genéticos , Variação Genética , Hordeum/crescimento & desenvolvimento , Hordeum/metabolismo , Endogamia , Mar Mediterrâneo , Fenótipo , Reação em Cadeia da Polimerase , Recombinação GenéticaRESUMO
Traumatic lung hernia of the chest wall is unusual in pediatric patients. Most acquired traumatic lung hernia occur at the site of injury or on the anterior parasternal chest wall because the external intercostal muscle is absent from the cost cartilaginous junction to the sternum. A five-year-old girl presented with such a hernia after severe blunt trauma to her right torso. A chest radiograph, immediately after the injury and a CT scan showed lung herniation. She was treated surgically by direct repair of the chest wall defect. The recovery proceeded without complications. With early identification and appropriate surgical or video-assisted repair, symptomatic pulmonary hernia can have an excellent prognosis and very low probability of recurrence.
Assuntos
Pneumopatias/etiologia , Lesão Pulmonar , Pré-Escolar , Feminino , Hérnia/etiologia , Humanos , Traumatismos Torácicos/complicações , Ferimentos não Penetrantes/complicaçõesRESUMO
The hand is frequently exposed to professional risks. It is often the target of accident during non protected work on a topia and many complex and grave lesions can be caused. The authors report a serie of 280 cases of topary hand treated in private and hospital sectors. The purpose of our work is is on the hand to insist on the frequency of topiary work accidents and on the other hand to make people of the importance of applying preventive measures in order to protect man by reducing professional risks.
Assuntos
Acidentes de Trabalho , Traumatismos da Mão/cirurgia , Responsabilidade Legal , Adulto , Traumatismos da Mão/epidemiologia , Humanos , Incidência , Masculino , Saúde Ocupacional , Medição de Risco , ÁrvoresRESUMO
The strange body at the hand level is frequent consultation pattern. Its extraction seems easy, however it's not. The authors reported one observation of the hand which is penetrated by a ig strange body. It's ablation is performed in a surgical room under anaesthesia, respecting the tension lines at the hand level and avoiding the nerves ramification of the cubital nerve that was hung by the harpoon.
Assuntos
Corpos Estranhos/cirurgia , Mãos , Idoso , Dissecação/métodos , Corpos Estranhos/etiologia , Mãos/inervação , Humanos , Masculino , Encaminhamento e Consulta/estatística & dados numéricosRESUMO
We have analysed 283 patient studies operated of ambulatory during the last two years. These patients represent only 12% of the patient group. It's especially a matter of patients operated urgently. The local anaesthesia in the regional local was practised in terms of 90% of cases. The complications where exceptional. We wanted to insist on the necessary guidelines and pitfalls to forget during the practice of that surgery and we wanted to focus on its advantages.
Assuntos
Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Cirurgia Plástica/organização & administração , Procedimentos Cirúrgicos Ambulatórios/economia , Procedimentos Cirúrgicos Ambulatórios/métodos , Anestesia/economia , Anestesia/métodos , Anestesia/estatística & dados numéricos , Custos Hospitalares/estatística & dados numéricos , Humanos , Guias de Prática Clínica como Assunto , Avaliação de Programas e Projetos de Saúde , Estudos Retrospectivos , TunísiaAssuntos
Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Síndrome do Túnel Carpal/cirurgia , Traumatismos da Mão/cirurgia , Mãos/cirurgia , Infecções/cirurgia , Neoplasias/cirurgia , Procedimentos Cirúrgicos Ambulatórios/efeitos adversos , Procedimentos Cirúrgicos Ambulatórios/métodos , Procedimentos Cirúrgicos Ambulatórios/tendências , Custos Hospitalares/estatística & dados numéricos , Humanos , Admissão do Paciente/estatística & dados numéricos , Admissão do Paciente/tendências , Assistência Perioperatória/métodos , Cuidados Pré-Operatórios/métodos , Avaliação de Programas e Projetos de Saúde , TunísiaAssuntos
Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/terapia , Mãos , Tendinopatia/diagnóstico , Tendinopatia/terapia , Tenossinovite/diagnóstico , Tenossinovite/terapia , Punho , Anti-Inflamatórios/uso terapêutico , Traumatismos em Atletas/etiologia , Humanos , Aparelhos Ortopédicos , Exame Físico , Modalidades de Fisioterapia , Encaminhamento e Consulta , Esteroides , Tendinopatia/etiologia , Tenossinovite/etiologiaRESUMO
INTRODUCTION: In this study, the authors have described an original technique for the two-stage treatment of trans-scaphoid perilunar dislocation. PATIENTS AND METHODS: In this study, the first step consisted of reducing the extent of the perilunar displacement, followed one month later by percutaneous pinning of the scaphoid as described by Galluccio. A series of 20 cases was treated in this manner, with positive results regarding scaphoid stabilization, joint mobility and the state of the median nerve. CONCLUSION: The advantage of this technique is that it avoids emergency stabilization of the scaphoid, a procedure which may be complicated by accompanying carpal injuries.
Assuntos
Pinos Ortopédicos , Luxações Articulares/cirurgia , Osso Semilunar , Manipulação Ortopédica/métodos , Articulação do Punho , Adulto , Fenômenos Biomecânicos , Seguimentos , Força da Mão , Humanos , Luxações Articulares/classificação , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/etiologia , Luxações Articulares/fisiopatologia , Masculino , Manipulação Ortopédica/instrumentação , Radiografia , Amplitude de Movimento Articular , Resultado do TratamentoRESUMO
From 1985 to 1997, 74 patients was operated of scaphoid non union at the Kassab Institute by a percutaneous pinning as described by Galluccio. The average age is 30 years with an extreme from 17 to 48 years. Union was obtained after an average of two years and six months. In 12 cases the delay was superior than three years. Functionally, pain is a constant cause of consultations and the majority of patients presented a reduction of the mobility sector (80%) and the strength of grasp (70%). Anatomically, it is particularly a pseudarthrosis stage II a of Alnot, and type I b of our classification. An immobilisation post-operative during one month is the rule. The analysis of results at an average of four years, revealed 91% of clinical recovery. Radiographically, the union is obtained in 89% of cases. Our fails (11%), are explained by an inadequate mounting and particularly by the length of pseudarthrosis. Compared to other means of synthesis, the percutaneous pinning of Galluccio, is an inexpensive technique, easily and rapid, which permit to obtain an interesting results particularly in the recent pseudarthrosis (evolution delay below three years).
Assuntos
Pinos Ortopédicos , Ossos do Carpo/cirurgia , Pseudoartrose/cirurgia , Adolescente , Adulto , Artralgia/fisiopatologia , Ossos do Carpo/lesões , Moldes Cirúrgicos , Feminino , Seguimentos , Fixação Interna de Fraturas/métodos , Consolidação da Fratura , Força da Mão/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Pseudoartrose/classificação , Pseudoartrose/fisiopatologia , Amplitude de Movimento Articular/fisiologia , Resultado do Tratamento , Articulação do Punho/fisiopatologiaRESUMO
The authors reports the experience of the plastic surgery unit in the Kassab's Institute of Orthopedics in Tunis. This series consists of 44 cases of polydactyly dominated by duplication of the little finger and the thumb. A slight male predominance was observed and the mean age at surgery was 8 years. Two types of polydactyly were observed: simple, such as rudimentary digits, complex, with associated bone malformation or syndactyly. In ulnar polydactyly, associated duplication of the toes in frequently noted. The most frequent surgical approach was amputation of the more dystrophic finger with reconstruction and correction of the other congenital malformation observed. Some cases of digital redistribution were also performed. A review of the literature is presented together with an objective analyse of esthetic and functional results.
Assuntos
Dedos/anormalidades , Dedos do Pé/anormalidades , Criança , Pré-Escolar , Anormalidades Congênitas/classificação , Feminino , Dedos/cirurgia , Humanos , Lactente , Masculino , Sindactilia/cirurgia , Polegar/anormalidades , Dedos do Pé/cirurgia , TunísiaRESUMO
Chronic hemodialysis is sometimes complicated by an osteoarticular amyloidosis, which happens after a middle delay of ten years, it can be expressed by a tunnel carpal syndrome, a shoulder pariarthritis, bony cysts, and erosive spondylarthropathy. The authors reported their experience about four cases, and insisted on some évocatoring radiologic aspects.
Assuntos
Amiloidose/etiologia , Doenças Ósseas/etiologia , Artropatias/etiologia , Diálise Renal/efeitos adversos , Adulto , Amiloidose/diagnóstico por imagem , Doenças Ósseas/diagnóstico por imagem , Síndrome do Túnel Carpal/etiologia , Humanos , Artropatias/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Periartrite/etiologia , Radiografia , Fatores de TempoRESUMO
Eighty cases of peritrapezial arthritis of the thumb treated by Swanson's trapezial implant have been reviewed by the authors. They advocate a slightly modified technique and emphasize the importance of "varisation" of the implant and of correct resection of the greater multangular bone. Follow-up was at least one year in all cases, maximum 10 years, the mean being 3 1/2 years. Results were judged as very good in 75% of the cases, fair in 20% and poor in 5%. This study emphasized the cases of failure by implant instability and its causes. In 8 cases, abnormal wear of the implant or of the scaphoid bone raises the question of long-term tolerance of silicone implants.