17 documents found, page 1 of 2

Evaluation of cerebral microvascular regulatory mechanisms with transcranial do...

Background: Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transcranial Doppler (TCD) in FD. Methods: Ten adult patients with classic phenotype FD, without clinical expression of ...

The effect of enzyme replacement therapy on clinical outcomes in male patients ...

Background: Enzyme replacement therapy (ERT) with recombinant human a-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original art...

Multiple phenotypic domains of fabry disease and their relevance for establishi...

Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient a-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, wit...

Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations...

Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, wi...

Trocanterite tuberculosa

Morbilidade da zona dadora após ligamentoplastia do LCA

After anterior cruciate ligamentoplasty, anterior knee pain, sensibility and muscular strength deficits are one of the most important variables affecting the final result on a well positioned neo-ligament, being this outcomes intrinsically related to the type and location of the graft utilized Após ligamentoplastia do cruzado anterior, a dor anterior do joelho e o défice de força muscular e sensitivo são das ma...

Wrist Arthrodesis: Clinical and Ultrasonographic Trial

INTRODUCTION: The wrist arthrodesis has become a well-established procedure on the treatment of various diseases that affect the radiocarpal joint with the objective of pain relief and restoration of joint stability, allowing a recovery of gripping function and lifestyle. OBJECTIVES: Evaluate the functional outcomes of wrist arthrodesis in patients with advanced symptomatic inflammatory or degenerative arthriti...

Patellar tilt – An easy and accurate method to evaluate it

Single or Combined Maquet III Osteotomy: Long Term Results

INTRODUCTION: In 1963, based on biomechanics studies, Maquet proposed the advancement of the patellar tendon insertion as a mean of treating patellofemoral pain. The rationale for this procedure was a reduction in the patellofemoral compression force vector by changing the angular relationship between patella tendon and quadriceps tendon. One of the additional procedures, on a malalign knee, was performing a cu...

Reconstrução do ligamento patelo-femoral lateral: resultados preliminares