Achondroplasia is the most common and most researched skeletal dysplasia. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, leading to abnormal endochondral ossification which causes multiple anatomical anomalies, the most characteristic being macrocephaly and asymmetrical short stature with proximal shortening of the limbs. The anatomical changes will result in organic and fun...
Lower urinary tract (LUT) dysfunction in pediatric patients is one of the most common reasons for consultation in pediatric urology and nephrology, affecting up to 40% of children assessed in these consultations.LUT dysfunctions are frequently associated with various comorbidities, such as recurrent urinary tract infections, vesicoureteral reflux, renal injury, constipation, among others. Moreover frequently co...
Introduction: Invasive meningococcal disease (IMD) is an infection caused by the bacterium Neisseria meningitidis, and a major cause of meningitis (MM) and/or septicemia (MS). The aim of this study is to estimate the costs of IMD (MM and MS) for Portuguese state.Methods: To estimate the costs associated with IMD, a model was developed, where patients can have one of three outcomes: survive without sequelae, sur...
Introdução: A sialorreia, ou seja, o derrame involuntário de saliva para além da margem da boca, é considerada patológica a parti r dos 4-6 anos e associa-se frequentemente a doenças neurológicas. A injeção de toxina botulínica nas glândulas salivares major diminui a secreção de saliva por interrupção temporária das inervações secreto-motoras, pelo que se tem vindo a tornar uma das principais técnicas usadas no...
Spondylodiscitis is a rare cause of spinal cord lesion. Although this kind of infection is known to have a low incidence; it reflects cases of major clinical interest, since early diagnosis and treatment are determinant reducing morbi-mortality and in improving functional prognosis.To analyse demographic and clinical data; the diagnostic investigations, the rehabilitation programme and the outcome in hospitalis...
Upper limb lymphedema is the most frequent complication of mastectomy. The efficacy of therapeutic modalities is crucial concerning the high prevalence and severity of some of its consequences. The authors make a revision of literature about epidemiology, clinic, diagnosis and treatment of this pathology.; Upper limb lymphedema is the most frequent complication of mastectomy. The efficacy of therapeutic modalit...
The neuromotor techniques do not have good results in severe spasticity prevention and treatment (Ashworth Scale > or = 3). High doses of oral Baclofen are required, thus intrathecal baclofen is a current alternative.To assess the effectiveness of treatment, the eight Spinal Cord Injury (SCI) patients with a intrathecal baclofen pump are controlled in a specific consultation in the Rehabilitation Service of C.H...