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. This article presents 13 clinical cases of patients with neuroendocrine tumors, with an median-age of 56,7 years, submitted to surgery between 2014 and 2017. The diagnosis was made based on clinical suspicion, serum and urinary catecholamines and metanephrins, imagiologic evaluation with CT or abdominal and pelvic MRI and MIBG scintigraphy. After surgery, the majority of patients remained with normal blood pressure, without anti-hypertensive therapy and follow-up was maintained in Outpatient Clinic, with periodic blood tests and imaging reevaluation.

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. These models contribute to a better understanding of the EMD decomposition through the evaluation of its performance in fGn signals. Since an analytical formulation to evaluate the EMD performance is not available, using well-known signals allows for a better insight into the process. The last model presented is meant for application to real data. Its purpose is to predict, in function of the regularity signal, the time-series length that should be used when one wants to divide the spectrum into a pre-determined number of modes, corresponding to different frequency bands, using EMD. This is the case, e.g., in heart rate and blood pressure signals, used to assess sympathovagal balance in the central nervous system.

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 +/- 9.0 years) predominantly of Bantu beta S haplotype. The concomitant effect of alpha thalassaemia was also analysed. Among the several UGT1A1 genotypes found, the most frequent were the (TA)6/(TA)6 (n = 37), (TA)6/(TA)7 (n = 60) and (TA)7/(TA)7 (n = 29). These groups of patients did not significantly differ in age, gender ratio and haemoglobin, foetal haemoglobin and reticulocyte levels. On the other hand, total bilirubin levels were significantly different between groups, with an increased (TA) repeat number being associated with higher bilirubinaemia. Furthermore, both cholelithiasis and cholecystectomy were more frequent in groups with higher (TA) repeat number, although the former association was not statistically significant. None of the mentioned parameters is statistically different within UGT1A1 groups with the presence of alpha thalassaemia. Thus, the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu SCD patients' clinical manifestations, even at a young age.

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. With discrete wavelet transform (DWT), a time-frequency analysis can be done, allowing the visualization in time of the contribution of LF and HF to the observed changes of a particular signal. In this study, we evaluate with wavelets the acute changes in R-R intervals and systolic blood pressure that are observed in normal subjects during four classical autonomic tests: head-up tilt (HUT), cold pressor test (CPT), deep breathing (DB) and Valsalva manoeuvre (VM). Continuous monitoring of ECG and blood presure was performed. Also LF, HF and LF/HF were calculated. Consistent with previous interpretations, data showed an increase of sympathetic activity in HUT, CPT and VM. On DB, results reflected an increase in parasympathetic activity and frequencies. In conclusion, when compared with FFT, wavelet analysis allows the evaluation of autonomic variability during short and non-stationary periods of time and may constitute a useful advance in the assessment of autonomic function in both physiological and pathological conditions.

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. In this article we present a clinical case, and review this clinical entity, so often underdiagnosed.

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. Single strand conformation polymorphism (SSCP) mutation analysis for the transthyretin (TTR) gene was performed. The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP, i.e., TTR V30M. DNA sequencing analysis revealed an A-to-G transition in the first base of codon 28 normally encoding a valine, giving rise to a methionine residue. The presence of this extra methionine was confirmed by peptide mapping and mass spectrometry analysis. Biopsy of nerve and skin of the propositus showed amyloid deposits that were immunoreactive for TTR. This is a new variant TTR related to late-onset amyloid neuropathy with autonomic dysfunction. This case confirms that TTR mutation screening should be considered in patients with a clinical disorder consistent with amyloid neuropathy even in the absence of a family history.

[Atypical radiologic features of pulmonary tuberculosis. Nodular images in strings of balloons]. / Expressão Radiológica Atípica de Tuberculose Pulmonar. Imagens nodulares em largada de balões.

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. Based on literature and on their own experience, the authors discuss the frequency of this radiologic presentation in this setting and its correlation with the immunological status of the patient, the pathogenicity of Mycobacterium tuberculosis and the clinical presentation of the disease.

[Orthostatic tachycardia syndromes]. / Síndromes de taquicardia ortostática.

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.

[Assessment of cardiovascular reflexes in patients with mitral valve prolapse syndrome]. / Avaliação de reflexos cardiovasculares em doentes com síndrome do prolapso da válvula mitral.

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. MATERIAL AND METHODS: We studied 20 patients with clinical and echocardiographic diagnosis of mitral valve prolapse, who presented Mitral Valve Prolapse Syndrome, without significant mitral regurgitation, and with normal left ventricular function. Cardiovascular reflexes were analysed by mean of five tests. RESULTS: In 75% of the cases, patients had results according to vagal hypofunction. Orthostatic hypotension was present in 40%. Among patients with orthostatic hypotension, 75% had postural phenomena. Among patients with postural phenomena, 75% had orthostatic hypotension. CONCLUSIONS: In the present study, patients behaviour hasn't been uniform. Vagal hypofunction was present in 75% and orthostatic hypotension in 40% of the cases. A relation has been found between orthostatic hypotension and postural into.

[Pure autonomic failure]. / Falência autonómica pura.

We present the case of a 64-year-old woman who, in the past 5 years, complained of constipation/diarrhea, hyposudoresis, xerostomia and xerophthalmia, dysuria and orthostatic hypotension. Cardiovascular reflexes analysis revealed sympathetic and parasympathetic failure. Norepinephrine was markedly reduced, both lying and after tilt. Norepinephrine infusion determined a significant rise in blood pressure, allowing the diagnosis of denervation hypersensitivity. The diagnosis of pure autonomic failure was made. Therapy with 9 alpha fludrocortisone and metoclopramide was initiated with marked and sustained symptomatic effect.