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1.
Balkan J Med Genet ; 25(2): 77-81, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37265973

RESUMO

Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categories: osseous and extraosseous, which mainly affects adolescents. Extraosseous Ewing Sarcomas (EES) are rare tumors originating from soft tissues. Their clinical presentation depends mainly on the primary location of the tumor and are highly chemosensitive and radiosensitive. The purpose of this study was to describe the clinical characteristics and outcomes of 3 children with EES and uncommon presentation treated in our Unit. The diagnosis of EES was confirmed by biopsy and cytogenetic analysis with fluorescence in situ hybridization (FISH). Surgical excision was planned as primary treatment, followed by adjuvant chemotherapy according to EURO-E.W.I.N.G protocol. To date, all patients are alive, 1, 3 and 4 years after completion of treatment, with no signs of recurrence or metastasis.

2.
Hippokratia ; 17(4): 370-2, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25031520

RESUMO

BACKGROUND: The syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare human disease and while its association with scoliosis was first reported in 1974, thirty years later the responsible genetic mutations are being elucidated. This progress was due to the reporting of single interesting cases. CASE DESCRIPTION: We present the case of a 27 year-old male patient who was admitted for elective scoliosis correction surgery and who represented after an uncomplicated discharge with headache and vomiting; because of a gaze palsy he underwent brain imaging that confirmed a brainstem abnormality, consistent with the syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS), a rare autosomal recessive human disease. CONCLUSION: This rare syndrome is a good example of how single case reports can lead to advances in laboratory research and genetic characterisation of diseases, together with implications for neurodevelopment. Vigilance in the neurological examination in an otherwise 'non-neurological' scoliosis will help identify potential such cases, whilst further genetic/molecular analysis may shed further light into neuro-embryological development and patterning.

3.
Eur Spine J ; 17(5): 673-8, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18301929

RESUMO

The aim of this cross-sectional case-control study is the comparison of the weight and height between a group of children with Scheuermann's disease (SD) and a comparable group of healthy ones and also the correlation of them with the degree and the morphology of the kyphotic curve. Following a school-screening program of 10,057 school students, aged between 11 and 17 years old, 175 adolescents with Scheuermann's disease were diagnosed. The mean height and weight of 175 adolescents diagnosed to have SD compared with this of a group of normal children taken randomly from the group of 9,882 healthy children screened. The control group was comparable with the study group concerning age (p = 0.605) and sex. The weight, height and body mass index (BMI) were significantly lower in the healthy (control) group (p < 0.001). However, there was no correlation between weight (r = -0.019, p = 0.804), height (r = 0.053, p = 0.484) and BMI (r = -0.177, p = 0.019) with the magnitude of kyphotic curve. There was also no correlation between weight (r = -0.27, p = 0.722), height (r = -0.025, p = 0.744) and BMI (r = -0.038, p = 0.619) with Voutsinas index as well. Scheuermann's disease is probably a multifactorial skeletal deformity. Weight and height do not seem to affect the magnitude and morphology of the main kyphotic curve in SD. It seems probably that this observation is not part of the pathogenetic mechanism of SD but a result of its cascade. The increased weight and height of these patients may be the secondary result of other disturbances (i.e. hormonal), which may play more crucial role in Scheuermann's disease pathogenesis.


Assuntos
Estatura , Peso Corporal , Doença de Scheuermann/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Humanos , Cifose/etiologia , Cifose/patologia , Masculino , Doença de Scheuermann/complicações , Doença de Scheuermann/patologia , Coluna Vertebral/patologia
4.
Hippokratia ; 11(3): 154-6, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19582212

RESUMO

BACKGROUND: It concerns an unusual injury which is the result of a violent hyperextension or abduction of the pollex and even less frequently by direct injury. AIM: To increase our sensitivity and observation regarding thumb's injuries, because it is possible a fracture of the sesamoid not to be diagnosed. MATERIAL AND METHOD: We present a case of an adult man, 35 years old, who suffered a violent hyperextension of the right pollex. The contribution of digital X-ray examination, which demonstrated a fracture of the ulnar sesamoid of the pollex was very important. The fracture was treated with fixation with elastic bandages for two weeks. RESULTS: Follow up of the patient six weeks and six months after the injury, demonstrated a total recovery of the function of the pollex and callousness of the fracture, respectively. CONCLUSION: Fracture of sesamoid bones of the thumb is a rare injury, not usually diagnosed, but it has good prognosis when treated properly.

5.
Orthopedics ; 29(1): 75-7, 2006 01.
Artigo em Inglês | MEDLINE | ID: mdl-16429938

RESUMO

This prospective randomized study examined the effects of aprotinin during total hip arthroplasty (THA). Fifty patients who were enrolled in the study received aprotinin or normal saline. Mean intraoperative blood loss was reduced from 1496 mL in the control group to 1073 mL in the aprotinin group. The mean transfusion unit was 1.56 in the aprotinin group and 3.8 in the control group.


Assuntos
Aprotinina/uso terapêutico , Artroplastia de Quadril/métodos , Perda Sanguínea Cirúrgica/prevenção & controle , Hemostáticos/uso terapêutico , Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos
6.
Arch Orthop Trauma Surg ; 125(1): 59-61, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15592933

RESUMO

Dislocation of the talonavicular joint is rare. We report a case of talonavicular dislocation in a 24-year-old man associated with a nondisplaced fracture of the navicular. Closed reduction was achieved, followed by 4 weeks in a cast. After 2 years of follow-up, no complications have been reported. This patient is still successfully employed as a manual worker 2 years after injury.


Assuntos
Fraturas Ósseas/diagnóstico , Luxações Articulares/diagnóstico , Articulações Tarsianas/lesões , Adulto , Moldes Cirúrgicos , Fraturas Ósseas/terapia , Humanos , Luxações Articulares/terapia , Masculino , Futebol/lesões
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