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A D Bordalo

Publications and source records attributed to A D Bordalo.

14 recordsLinked to original sources
PubMed2000

Multiple endocrine neoplasia type 2A. Study of a family.

INTRODUCTION: Pheochromocytomas (Pheo) can occur sporadically, isolated or in association with other neuroendocrine lesions. In multiple endocrine neoplasia type 2A (MEN-2A), Pheo is associated to medullary thyroid carcinoma (MTC) or its precursor, C-cell hyperplasia (CCH) and parathyroid hyperplasia. Genetic screening provides early diagnosis and preventive treatment. In order to validate DNA analysis as a reliable method of early identification of gene carriers, we compared the results of genetic screening with clinical, biochemical, imaging and pathological findings in the members of an affected family. POPULATION AND METHODS: The diagnosis of a bilateral necrotic Pheo in a female patient led to the study of a family with four generations, aged 3 to 78 years (mean = 30.3 yrs). The study included a clinical examination; basal and pentagastrin stimulated calcitonin values; urinary catecholamines and their metabolites; serum calcium and a genetic study (direct sequence of PCR products from genomic DNA isolated from leucocytes using specific primers in exon 11 of the RET protooncogene of chromosome 10). The radiologic study, gammagraphic study (131I-MIBG) and magnetic resonance study were performed in members with clinical suspicion of Pheo. RESULTS: Seven out of nine patients had a mutation on codon 634 of exon 11 of RET (TGC-CGC), leading to cysteine arginine substitution in the codified protein; all gene carriers had biochemical markers of MTC/CCH and four of Pheo. The Pheo patients underwent adrenalectomy (bilateral in three) and all the gene carriers underwent prophylactic thyroidectomy. The pathologic findings were: MTC in four (metastasized in one); CCH in three and parathyroid hyperplasia in one. CONCLUSIONS: Phenotypic penetration of RET mutation was 100% for MTC/CCH, but only 57% of the gene carriers had Pheo. Genetic screening allowed early prophylactic treatment in four out of seven patients; pathologic findings revealed several evolutionary stages of the disease. Patients not yet showing Pheo are under close clinical and laboratory surveillance.

Adolescent↗
PubMed1992

[A case of incessant junctional tachycardia in a female patient with aneurysm of the interauricular septum].

A permanent supraventricular tachycardia (SVT) was diagnosed in a 54-year-old hypertensive but cardiologically asymptomatic female patient, admitted to a surgery department for biliary lithiasis and hepatic echinococcosis. Heart rate was about 130 bpm and ECGs showed negative P waves in leads I, II, III, aVF, and precordial leads V2 to V6, being the RP' interval longer than P'R interval. Pharmacological intervention during Holter monitoring (20 hours) was instituted: following i.v. propranolol (4 mg), heart rate progressively decreased (to 112 bpm), mainly due to an increase in SVT RP' interval, and brief, spontaneous SVT interruptions occurred, preceded by P'R interval prolongation; SVT stopped after P' recording, and resumed after 2 sinus beats, (showing enlarged P waves and slightly prolonged PR interval), induced by cycle length shortening; later on, under i.v. amiodarone infusion (100 mg/hour) and coincident with the sleeping period, SVT cycle length progressively increased (to 600 msec), due to equivalent increases in P'R and R'P intervals. Two premature ventricular contractions (PVC) occurred during Holter monitoring at a coupling interval of 80-85% of SVT cycle length (480 msec): one PVC apparently originated in left ventricle lateral wall, captured the atria, which were activated 75 msec earlier than expected; the other PVC, apparently originated in left ventricle septoapical region, did not interfere with SVT cycle length. Before these data, a diagnosis of circus movement tachycardia, incorporating a concealed accessory pathway with slow retrograde conduction and ventricular insertion in the postoroseptal or left posterior paraseptal region, and showing minor impairment of antegrade AV nodal conduction, was made. Invasive electrophysiological study was then discarded. With combined oral antiarrhythmic therapy (amiodarone, 600 mg/d), plus propafenone, 450 mg/d), sinus rhythm was permanently restored, with evidence of intraatrial block, slightly prolonged PR interval and no preexcitation. Transesophageal echocardiography revealed a small atrial septal aneurysm associated with a small atrial septal defect; echocardiographic features were consistent with the hypothesis of incomplete regression of the atrial septal aneurysm after partial closure of the atrial septal defect. Abdominal surgery (cholecystectomy plus partial hepatic pericystectomy) was performed without any complications or SVT recurrences. During a 6-month follow-up period, maintaining amiodarone (200 mg/d) and propafenone (450 mg/d), the patient remained SVT-free, and Holter monitoring performed at 3 and 5 months showed permanent sinus rhythm and 1:1 AV conduction with slightly prolonged PR interval (less than 0.29 sec and shortening at faster heart rates). This case documents Holter monitoring capability for the evaluation of tachycardia mechanisms in patients with permanent SVT.

Amiodarone↗
PubMed1981

[Reevaluation of the electrocardiographic criteria of left anterior hemiblock associated with lower infarction].

UNLABELLED: A vectocardiographic (VCG) study of 90 consecutive cases of acute inferior myocardial infarction (IMI) was carried out by Frank's method. The overall incidence of intraventricular block was 40% and that of left anterior hemiblock (LAH) 20% (18 cases). The ECG features of the 18 cases of LAH-acute IMI and of the 55 cases of isolated acute IMI were compared with those of 100 cases of confirmed chronic IMI comprising 50 cases of isolated infarction-LAH (on VCG) and with 50 cases of isolated LAH (clinical and VCG diagnosis). The incidence of the six following electrocardiographic criteria were studied: 1) terminal negative forces in Lead II and positive forces in AVR with left axis deviation 2) W-shaped appearances in Leads II and AVF, 3) initial notching in Leads II, III and AVF, 4) abnormal growth of the R wave from Lead II to Lead III, 5) combinations of the four preceding criteria taken two by two, 6) the association of 3 of the 4 preceding criteria (from 1 to 4). RESULTS: A) Acute IMI: 1) isolated infarction: criteria 1 - 7%; 2 - 2%; 3 - 5%; 4 - 2%; 5 - 4%; 6 - 0%; 2) IMI - LAH: 33%, 56%, 61%, 17%, 50%, 6%, respectively. B) Chronic IMI: 1) isolated infarction: criteria 1 - 4%; 2 - 8%; 3 - 6%; 4 - 10%; 5 - 8%; 6 - 0%; 2) IMI - LAH: 72%, 22%, 60%, 74%, 42%, 44%, respectively. C) Isolated LAH: criteria 1 - 80%; 2 - 0%; 3 - 4%; 4 - 20%; 5 - 20%; 6 - 0%. CONCLUSIONS: Some of the ECG criteria studied were relatively sensitive and were suggestive of the association IMI - LAH, but VCG was much more sensitive and specific. Therefore, the incidence of LAH associated with acute IMI is probably underestimated by ECG alone.

Electrocardiography↗
PubMedDate not supplied

Differential diagnosis of chest pain in an emergency department: the value of homocysteinemia as a diagnostic marker.

UNLABELLED: Only 20 to 45% of patients (pts) admitted to an emergency department (ED) with chest pain (CP) have a cardiac ischemic CP (ICP). Apart from the need for a rapid detection of ICP cases, it is important to avoid discharging patients with false negative ICP. We studied the capability of plasma homocysteine (Hcy) values to improve the differential diagnosis (DD) in patients admitted to an ED with CP. PATIENTS: 125 patients, 80 males, mean age 61 yrs (25-96 yrs), 75 (60%) without prior atherosclerotic cardiovascular disease (ACVD), consecutively admitted to the ED with CP which was not immediately clear. Definitive diagnosis: ICP-58 patients (46%); non-ischemic (non-ICP)--64 patients (54%). METHOD: Hcy was measured on admittance (fasting state not required), by means of a fluorescence polarization enzyme immunoassay (IMx, Abbott); at real conditions, the results were obtained within 2 hours (but not displayed). RESULTS: 1) Hcy (mumol/L) = 10.9 +/- 5.4 (non ICP without prior CDAV); 13.9 +/- 7.7 (ICP). 2) Hcy > or = 15.0 mumol/L in patients without prior ACVD: 5 patients (9%) with non ICP, 8 patients (38%) with ICP--p < 0.01; RR = 2.9 (95% CI = 1.2-7.1); positive value = 62%; negative predictive value = 79%. CONCLUSION: In patients without ACVD, Hcy may contribute to improve DD of equivocal CP, namely: 1) before a normal or non-diagnostic ECG and negative ischemia markers, Hcy > or = 15.0 mumol/L will imply additional cardiological investigation in the ED; 2) Hcy < 15.0 increases the liability of a non-ICP diagnosis.

Adult↗