Vila Nova de Gaia, Portugal
Vila Nova de Gaia, Portugal

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Teixeira T.,University of Porto | Sousa L.C.,University of Porto | Parente M.,University of Porto | Natal R.,University of Porto | And 3 more authors.
Revista Internacional de Metodos Numericos para Calculo y Diseno en Ingenieria | Year: 2015

The knowledge of the kinematics of the cervical spine is a very important tool, since this region is one of the more complex structures of the human skeleton and because the incidence of failure that may result from trauma or degenerative diseases is relatively high. The main objective of this study is the analysis and comparison of anterior cervical fusion and/or posterior cervical fusion as possible treatments for a fracture of type C2.2 according to AO spine injury classification system, and this study may assist health professionals in choosing the best fusion technique. To this end we built a 3. D finite element model of the cervical segment C4-C5-C6. Their intervertebral discs (IV) and its components, namely the nucleus pulposus, the annulus fibrosus, the fibers and the lamellar cartilaginous plates were modeled. Six sets of ligaments (anterior longitudinal, posterior longitudinal, interspinous, suprespinous, yellow and capsular) and the facet joints were also modeled.The simulation of the fracture was performed in 3 different steps: introduction of a fracture zone in the previous C5 vertebra, rupture of the ligaments of the posterior region and the sliding of the C5 vertebra. The instrumentation used in the study treatments and even the replacement of the damaged disc by bone graft from the iliac bone, were also modeled.Analyzing the displacements of the functional unit it was concluded that the anterior and posterior cervical fusion provides the best results compared to other types of cervical fusion studied in terms of displacement of the functional unit. © 2015 CIMNE (Universitat Politècnica de Catalunya).

Almeida C.,Rua Calouste Gulbenkian n 131 | Silva S.R.,Rua Doutor Francisco Sa Carneiro | Garcia E.,Prof. Sergio Castedo S.A. | Leite A.L.,Rua Doutor Francisco Sa Carneiro | And 2 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2014

Introduction: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous form of diabetes mellitus, with autosomal dominant inheritance. It accounts for 2%-5% of all diabetes cases. Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene. It mostly presents with mild hyperglycemia, and, usually, no diabetes-related complications occur. Case report: A 9-year-old female was admitted to the Endocrine Clinic to study her fasting hyperglycemia. Despite her obesity (body mass index 28 kg/m2), her physical examination had no other abnormalities. Blood tests showed a 6.3% hemoglobin A1c, with normal standard oral glucose tolerance test result, normal insulin value and normal C-peptide level. Insulin autoantibodies and antibodies against glutamate decarboxylase were negative. She began metformin and adequate diet. She had a strongly positive family history for diabetes. The patient's mother, uncle, grandfather, great-aunt and great-grandfather on her mother's side were diagnosed with diabetes. Complete sequencing of the GCK gene, carried out in the patient, identified a novel mutation c.1268T>A (p.Phe423Tyr) in exon 10 of the gene GCK in heterozygosity. Further studies revealed the same mutation in her mother and maternal grandfather. Conclusion: Finding the same mutation in three different generations of diabetic patients, in the same family, is highly suggestive of its pathogenicity. To the authors' knowledge, this is the first time it is described in the literature. Correct molecular diagnosis of MODY predicts better the clinical course of diabetes and facilitates individualised management.

Rangel M.A.,Rua Doutor Francisco Sa Carneiro | Baptista C.,Rua Doutor Francisco Sa Carneiro | Santos F.,Pediatria Do Centro Hospitalar | Real M.V.,Pediatria Do Centro Hospitalar | And 2 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Introduction: Neuropathy is a frequent complication of diabetes mellitus (DM), increasing with the duration of the disease, poor glycemic control and advanced age. Acute presentation of a neuropathy in the setting of a newly diagnosed type 1 DM is rare and holds a diagnostic challenge. Case report: A 10-year-old girl, presented at the emergency service with complaints of polydipsia, polyuria, asthenia and weight lost over the last 15 days, accompanied by difficulties in flexing the right foot, during the previous week. The patient denied any pain, paresthesias, or altered sensibility. There was no fever documented, or recent infectious intercurrence or trauma. On physical examination, she was conscious, collaborative and space and time-orientated, had a diminished strength in the right foot, namely in the dorsiflexion, conditioning a steppage gait ipsilateral. Hyperalgesia was felt in the dorsum of the right feet to the ankle. DM type 1 was diagnosed based on serum glucose of 629 mg/dL and mild ketoacidosis. Investigation for infectious, immune and nutritional aetiologies for the mononeuropathy was negative. Electrophysiological study was suggestive of a lesion of the peroneal nerve on the popliteal cesspit, but was not conclusive. The patient started physiotherapy during her hospital stay and exhibited a slight improvement in the dorsiflexion of the foot. Four months later she was asymptomatic and with good glycaemic control. Conclusion: Diabetic neuropathy is a heterogeneous group that still lacks adequate comprehension. Its approach is empirical and demands exclusion of other etiologies. A definitive diagnosis is not always possible and sometimes is retrospective. © 2015 by De Gruyter 2015.

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