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Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Atypical phenotype in two patients with LAMA2 mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Epilepsy and Cerebral Palsy: Characteristics and Trends in Children Born in 197...

Background: Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy. Aims: To describe epilepsy in children with CP, and to examine the association between epilepsy and neonatal characteristics, associated impairments and CP subtypes. Methods: Data on 9654 children with CP born between 1976 and 1998 and registered in 17 European registers belonging...

Osteoporosis in Paediatric Patients with Spina Bifida

The prevalence andmorbidity associated with osteoporosis and fractures in patients with spina bifida (SB) highlight the importance of osteoporosis prevention and treatment in early childhood; however, the issue has received little attention. The method for the selection of appropriate patients for drug treatment has not been clarified. Objective: To review the literature concerning fracture risks and low bone d...

A reação do mercado às boas notícias: o caso da saída da falência

Tese de dout., Ciências Económicas Empresariais (Gestão), Faculdade de Economia, Univ. do Algarve, 2012 ; A hipótese da eficiência do mercado de capitais é um tema amplamente discutido entre profissionais e académicos da área das finanças. Os defensores da teoria clássica sugerem que os mercados de capitais assimilam completa e instantaneamente toda a informação relevante que está disponível. Em sentido oposto...

Defeitos do Tubo Neural e Medula Ancorada na Criança e Adolescente. Um Olhar Ne...

AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - A...

AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - ANÁLISE DOS ÚLTIMOS QUATRO ANOS Ernestina Aires1, Alexandra Fernandes1, Paula Rodrigues1, Cláudia Santos1,2, Elsa Calado1,2, Irene Aragão1, 3, Laura Marques1, 4, Lígia Palma1, 5, Luísa Lopes1, 5, José Polónia1, 6, Júlio Oliveira1, 7, Carlos Vasconcelos1, 8 1Comissão de Controlo da Infecção (CCI), HSA/CHP; 2Serviço de Microbiologia, HS...

Septic Arthritis Presenting as Brachial Plexus Neurophaty

Bone and joint infections are rare in the neonatal period. They often present with pseudo paralysis of the affected limb due to pain and discomfort caused by movement. The existence of a concomitant neuropathy is a rare and insuffi ciently understood phenomenon with few cases described. The authors report the case of a 7-week infant, born prematurely and with Staphylococcus aureus neonatal sepsis, who presented...

A Brother or a Sister With CP. How Much it Makes a Difference in Childhood and...

Every month we see to be published dozens of scientific papers about etiology and physiopathology of CP, imaging, treatment, survival, quality of life of patients and of mothers (just a few) and so on. Papers dealing with the feelings and the problems of siblings of children and adults with CP in the most important scientific journals are extremely rare. However in internet we can find the sites of the most imp...

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism compr...