8 documents found, page 1 of 1

X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should ...

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the diagnosis, with three main phenotypes: an Addison syndrome-like phenotype with adrenal insufficiency; a myeloneuropathic form, which progresses as a spastic paraparesis; a cere...

Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep t...

Responsible leadership what does it consist of and what is the path for Portugal?

With the support of Fundação Magnum Gaudium and BPI Fundação "la Caixa", the CRB has launched the research "Responsible Leadership: what does it Mean and the Future for Portugal" in November 2022. The study encompasses a systematic literature review, a questionnaire that includes two samples based in Portugal and one in the USA, and a qualitative study that includes 15 interviews with Portuguese leaders from di...

ToP: programa de tempo partilhado. Interação social para pessoas em risco de is...

A critical review of obesity in healthcare systems in brazil and portugal: Path...

Made available in DSpace on 2021-06-25T11:01:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Background: Obesity and its associated diseases in the 21st century has led to new public policies with international commitments. Objective: The objective of this review was to examine public initiatives and policies to tackle obesity...

Individualized nutrition therapy - role in improving eating habits in adults wi...

Introduction: Individualized Nutrition Therapy (NT) is a key factor in DM 2 control. Changing eating habits is a slow process in terms of adaptation and maintenance that requires ongoing patient support. Objective: This retrospective study aimsto evaluate the role of individualized NT and adherence to NT in adults with type 2 DM referred to a Primary Health Care Nutrition Consultation (ACeS Porto Ocidental). Ma...

Cost-effectiveness of trastuzumab in the treatment of early stages breast cance...

Despite the important advances observed in the last 25 years in the comprehension of the clinical and biological nature of breast cancer and its treatment, this disease remains a significant cause of cancer morbidity and mortality worldwide. The clinical trial Hera has demonstrated the safety and efficacy of trastuzumab in the treatment of HER2 positive (HER2+) breast cancer patients, in early stages, subsequen...

Dietary fat and ischemic stroke risk in Northern Portugal.

A few international studies suggest an inverse association of the intake of fat with risk of ischemic stroke. On the contrary of coronary heart disease, only 10% a 15% of ischemic strokes are associated to large vessels atherosclerosis. This suggests different mechanisms for these two pathologies. So, we design a study whose aim is to quantify the ischemic stroke risk associated to dietary fat.A case-control st...