Diagnosis and treatment of neuroendocrine tumors - A series of 13 clinical cases (2014-2017).

Paragangliomas and pheocromocytomas are rare neuroendocrine tumors with different clinical presentation, being responsible for secondary arterial hypertension with target-organ lesions. Surgery is a curative therapy in these tumors and demands a multidisciplinary approach. These tumors are more frequent between the 4th and 5th decades of life and their clinical manifestations are related to catecholamines production: headache, palpitations, variable blood pressure.

Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.

Background: Cardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial fibrosis; however, this event is irreversible, thus identification of biomarkers of earlier diffuse fibrosis is paramount.

Methods And Results: Type I collagen synthesis and degradation biomarkers (PICP [carboxyterminal propeptide of procollagen type I], ICTP [carboxyterminal telopeptide of type I collagen], and MMP1 [matrix metalloproteinase 1] and MMP2) and markers of bone synthesis and degradation were evaluated (to adjust type I collagen metabolism to bone turnover) in FD patients and controls.

New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study.

Background: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2.

Hypocalcemic cardiomyopathy.

The association between hypocalcemia and heart failure is rare. There are few reported cases in the literature of this association, which is termed hypocalcemic cardiomyopathy. We report the case of a 61-year-old woman with no relevant medical history, admitted for progressively worsening exertional dyspnea, orthopnea and edema of the lower limbs for a previous month.

[Subvalvular aortic stenosis associated with 8p23 deletion].

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo interstitial deletion in chromosome 8 in the region p23.1-p23.

Extended remission of metastatic epithelioid angiosarcoma of the heart with liposomal doxorubicin.

Angiosarcoma is the most common primary malignant tumour of the heart. It is a rare and aggressive neoplasm that almost always has a short and fatal evolution. By the time it produces symptoms it has usually progressed to a mass causing haemodynamic compromise.

On the influence of time-series length in EMD to extract frequency content: simulations and models in biomedical signals.

In this paper, fractional Gaussian noise (fGn) was used to simulate a homogeneously spreading broadband signal without any dominant frequency band, and to perform a simulation study about the influence of time-series length in the number of intrinsic mode functions (IMFs) obtained after empirical mode decomposition (EMD). In this context three models are presented. The first two models depend on the Hurst exponent H, and the last one is designed for small data lengths, in which the number of IMFs after EMD is obtained based on the regularity of the signal, and depends on an index measure of regularity.

Abnormal myocardial flow reserve in sickle cell disease: a myocardial contrast echocardiography study.

Background: Sickle cell disease (SCD) is characterized by obstruction of microvessels leading to ischemia and necrosis. We have aimed to demonstrate whether myocardial contrast echocardiography (MCE) is able to detect myocardial perfusion abnormalities in SCD patients and to assess their relationship with left ventricle (LV) perfusion and systolic function.

Methods: A group of 25 patients with SCD and a control group of 19 normal individuals were studied.

The Valsalva maneuver revisited by wavelets.

The Valsalva maneuver is an autonomic test that evokes short sharp cardiovascular fluctuations mediated by the autonomic nervous system. Numerous spectral analysis methods have been proposed to analyze biological signals. When applied to heart rate (HR) variability, two major bands related to autonomic influence have been defined: LF (mainly sympathetic) and HF (parasympathetic).

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism.

Elevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young SCD patients (mean age 12.0 +/- 9.

Wavelet analysis of autonomic outflow of normal subjects on head-up tilt, cold pressor test, Valsalva manoeuvre and deep breathing.

Non-invasive autonomic evaluation has used fast Fourier transform (FFT) to assign a range of low (LF) and high frequencies (HF) as markers of sympathetic and parasympathetic influences, respectively. However, FFT cannot be applied to brief transient phenomena, such as those observed on performing autonomic tests where the acute changes of cardiovascular signals (blood pressure and heart rate) that represent the first and most important stage of the autonomic performance towards a new state of equilibrium occur. Wavelet analysis has been proposed as a method to overcome and complement information taken exclusively in the frequency domain.

[Acute disautonomia associated to Hodgkin lymphoma].

The case of a 31 man with acute disautonomia envolving the parasympathetic and sympathetic systems but sparing sympathetic cholinergic division is presented. A Hodgkin lymphoma was diagnosed allowing the diagnosis of a paraneoplastic syndrome.

Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy.

A middle age Portuguese woman was investigated for renal amyloidosis. She presented with progressive renal failure, proteinuria, hypertension, and sensory symptoms in the feet. Clinical and neurophysiological evaluation disclosed sensory-autonomic neuropathy.

Tachycardiomyopathies.

Heart failure is a common disease with major social and economic repercussions for the health system. All potentially curable or reversible causes of heart failure should be investigated and treated if possible. Several experimental and clinical studies have demonstrated that supraventricular tachycardias can induce a form of dilated cardiomyopathy (tachycardiomyopathy), which may be reversible with ventricular frequency response control.

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.

A 62-year-old Portuguese man, with no history of familial amyloid polyneuropathy (FAP), and a 2(1/2)-year history of tingling in the toes and sexual dysfunction was found neurophysiologically to have a sensory-motor axonal polyneuropathy. Autonomic tests showed slight sympathetic and marked parasympathetic involvement. Heart, kidney, and eyes were normal.

[Atypical radiologic features of pulmonary tuberculosis. Nodular images in strings of balloons].

Chest radiographs are an important tool for the diagnosis and follow-up. Yet the radiographic findings can vary significantly, ranging from the so-called usual to unusual patterns. In this paper the authors report three cases of pulmonary tuberculosis in which the chest radiographs showed a nodular, pseudo-tumoral pattern.

[Orthostatic tachycardia syndromes].

Orthostatic tachycardia may be due to several physiologic abnormalities. Normal regulation of cardiac frequency in relation to postural changes is described; main causes of orthostatic tachycardia are described, in particular hypovolemia, beta-adrenergic hypersensitivity and segmental autonomic neuropathy. The current therapeutic attitudes are discussed.

Streptococcus bovis spontaneous bacterial peritonitis in patients with alcoholic cirrhosis.

Spontaneous bacterial peritonitis (SBP) is a frequent cause of decompensated alcoholic cirrhosis. The authors describe the first two cases caused by infection with Streptococcus bovis. They suggest that this microorganism may be present in the intestinal flora of these patients more frequently than assumed.

[Assessment of cardiovascular reflexes in patients with mitral valve prolapse syndrome].

Objective: Functional evaluation of Autonomic Nervous System in patients with Mitral Valve Prolapse Syndrome.

Design: Study of cardiovascular reflexes.

Setting: Out patients studied in the Laboratory for Study of Autonomic Nervous System Function of Santa Maria Hospital, Lisbon, Portugal.

Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.

To assess the correlation between the severity of clinical symptoms and sensorymotor and autonomic function in familial amyloidotic polyneuropathy of the Portuguese type (FAP-PT), clinical grade (CG), electromyographic score (ES), sympathetic (SS) and parasympathetic score (PS) were compared in 47 patients. SS and PS were both abnormal in 72% of patients with ES = 0% and in 73% of patients with CG = 0. When SS and PS were compared with either CG and ES, PS progressed more rapidly and stabilized earlier than SS.