Biomarkers of neuroendocrine tumors.

Neuroendocrine tumors (NET) are rare heterogenous tumors which prevalence is increasing. Their features vary by anatomical location, functionality and hormonal production. Their management needs a multidisciplinary approach.

[Biological diagnosis of pheochromocytoma in 2014].

Pheochromocytomas and/or paragangliomas are rare, heterogeneous tumors of the chromaffin cells. Thirty percent of the patients presented with these diseases in a hereditary context. The biological diagnosis relies on the identification of excessive secretion of the metanephrines which are more sensitive and specific than those of catecholamines.

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene (SMN1). Its centromeric copy gene, SMN2, is the major modifying factor. However, the genotype-phenotype correlation is incomplete and is therefore not useful in clinical practice.

Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.

Background: Operative excision of abdominal extra-adrenal paragangliomas (EAPs) does not preclude the late development of local-regional recurrence. We describe the incidence, characteristics, and outcome of this rarely reported feature.

Methods: Retrospective analysis of local-regional recurrence that occurred during follow-up of 51 consecutive patients operated for a sporadic (n = 26) or hereditary (n = 25) EAP.

Is hormonal activation during exercise useful for risk stratification in patients with moderate congestive heart failure?

Background: We previously demonstrated that A-type natriuretic peptide (ANP) at peak exercise was an independent predictor of cardiac survival. No data are available concerning the predictive value of B-type natriuretic peptide (BNP) at peak exercise.

Methods: One hundred and fifty consecutive stable patients with moderate congestive heart failure (CHF) underwent echocardiography and a cardiopulmonary exercise test.