ABSTRACT
Propionic acidemia and long QT syndrome (LQTS) are rare disorders. In addition, both conditions are potentially lethal. The patient presented in this article was initially diagnosed with propionic acidemia. Incidentally, she was found to have LQTS on electrocardiogram and verified by stress test and epinephrine challenge. Although the patient was asymptomatic and arrhythmia free, we started her on atenolol. This is the first report of the association between LQTS and propionic acidemia.
Subject(s)
Amino Acid Metabolism, Inborn Errors/complications , Long QT Syndrome/complications , Propionates/blood , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/genetics , Child , Electrocardiography , Epinephrine , Exercise Test , Female , Genetic Predisposition to Disease/genetics , Humans , Long QT Syndrome/diagnosis , Long QT Syndrome/geneticsABSTRACT
BACKGROUND: Graft coronary disease is a leading cause of death in patients who have undergone cardiac transplantation. The purpose of this study was to evaluate regional wall motion response and quantitative measures of ventricular function during dobutamine stress echocardiography (DSE) in pediatric transplantation patients. METHODS: Eleven patients were evaluated the first year after transplantation (10/11 no rejection). Ten of the 11 were reevaluated 1.2 +/- 0.3 years later (9/10 no rejection). RESULTS: Dobutamine stress echocardiography revealed the following: (1) baseline regional wall motion abnormalities in 80% that resolved in all, (2) increased heart rate and blood pressure, (3) no change in left ventricular end-diastolic diameter, (4) decreased end-systolic diameter, (5) decreased wall stress and increased velocity of circumferential fiber shortening, (6) increased VCFcZ score (representing systolic left ventricular function), and (7) a decreased mitral passive-to-active filling ratio. Patients with rejection had abnormal VCFcZ scores at rest. CONCLUSIONS: Pediatric transplantation patients without rejection have baseline regional wall motion abnormalities. With DSE, the following are present: (1) resolution of wall motion abnormalities, (2) increased contractility independent of load, and (3) changes in diastolic parameters that reflect increased heart rate. Patients with rejection may have abnormal contractility at rest.
Subject(s)
Coronary Disease/diagnostic imaging , Heart Transplantation , Myocardial Contraction , Postoperative Complications/diagnostic imaging , Ventricular Function, Left , Child , Coronary Disease/physiopathology , Hemodynamics , Humans , Infusions, Intravenous , Oximetry , Postoperative Complications/physiopathology , UltrasonographyABSTRACT
Recent experimental and clinical data point to the T helper lymphocyte subset as playing a central role in the pathogenesis of rheumatoid arthritis (RA). Thus, a therapeutic strategy aimed specifically at the CD4 T cell subset is warranted. We treated patients with active RA for 7 days with a daily dose of 20 mg of CD4 monoclonal antibody M-T151, administered intravenously over 30 minutes. There were no negative side effects. According to changes in the combined parameters of Ritchie articular index, pain assessment, grip strength, and morning stiffness, 6 patients had a good response. Clinical improvement was greatest approximately 2 weeks after termination of the therapy and lasted from 4 weeks to 6 months. Of the serologic parameters of inflammation, only the C-reactive protein level improved in the patients with a favorable response. Close immunologic monitoring revealed a transient, selective depletion of CD4+ T cells after each infusion. During the entire treatment period, residual circulating CD4+ cells were found to be coated with CD4 antibody, whereas free antibody was detected in the serum only for approximately 8 hours after each infusion. Immediately after infusion, soluble CD4 antigen appeared in the serum. In addition to the cell-bound CD4 antibody, complement components could be detected on the surface of the remaining CD4+ cells. The proliferative response of peripheral blood mononuclear cells to purified protein derivative was significantly diminished 4 weeks after cessation of antibody treatment. Six patients showed a weak antibody response to mouse immunoglobulin. In 4 of the responders who received a second course of therapy (2 of them as outpatients), a therapeutic effect was noted that was similar to that after the first course. Only 1 patient, who had low titers of serum IgE anti-mouse Ig antibodies, showed a mild anaphylactic reaction at the end of the second course of therapy. Treatment of RA with the monoclonal CD4 antibody M-T151 seems to be a promising alternative, although the optimal dose and the regimen of administration are still to be defined.
