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Biomedical subjects

J L Ducla-Soares

Publications and source records attributed to J L Ducla-Soares.

8 recordsLinked to original sources

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.

Aged↗

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.

Adult↗

[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.

Autonomic Nervous System Diseases↗

[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. 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.

Adult↗

[Pure autonomic failure].

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.

Autonomic Nervous System Diseases↗

[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. 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.

Adult↗