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L Novais

Publications and source records attributed to L Novais.

10 recordsLinked to original sources

Eleven novel APC mutations identified in Portuguese FAP families.

Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families. We here report eleven novel mutations which are predominantly frameshifts or single base substitutions, resulting in premature stop codons. Hum Mutat 16:178, 2000.

Adenomatous Polyposis Coli↗

Stationary vs. mapping manometry in evaluating dysphagia.

Two methods are used to assess esophageal motility. The mapping technique uses catheter withdrawal at 1 cm steps until the entire esophagus is evaluated. A simpler method is commonly used that involves keeping the catheter stationary for the entire evaluation. We compared these 2 techniques in 30 patients referred for the evaluation of dysphagia. Emphasis was placed on the distal 10 cm of the esophagus because this is the primary location of esophageal motility disorders. There was excellent correlation between techniques for mean distal amplitude (r = 0.945), mean distal duration (r = 0.942), and percentage of non-peristaltic contractions (r = 0.967). The overall manometry diagnosis was similar by both methods in 27 (90%) patients. Three patients had different manometry diagnoses resulting from use of the two techniques. However, the change in diagnosis was only clinically important in one patient in whom the mapping technique identified a segmental motility disorder that had been missed by the stationary technique. Stationary manometry had a 94% sensitivity and 93% specificity rate for identifying motility disorders compared to mapping manometry. We conclude that stationary manometry is a simple and accurate method for evaluating esophageal pressures and distal disorders. Only those patients with normal results of stationary studies may benefit by further mapping to identify rare segmental motility disorders.

Adolescent↗

[Essential thrombocythemia. Therapy with interferon alfa].

A clinical case of essential thrombocythaemia is presented to demonstrate good therapeutic response to subcutaneous Alpha-2b Interferon in a dosage of 3 x 10(6) units, three times a week. Based on this case and on a literature research we propose that Alpha-2b Interferon is a legitimate alternative to alkylating agents or radioactive phosphorus (32P), showing identical efficacy and less Leukemogen effect.

Female↗