Terminal deletion(4)(q33) in a male infant

The deletion of 4q31→qter is associated with a recognizable "4q^- syndrome". It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q^- syndrome. We present the second case, the first male, with the latter deletion and compare his clinical features to those of other 4q^- patients.     

Effect of Plasma Proteins on the Sieving Spectra of Hemofilters

qoffxture of neutral maltodextrins with a continuous molecular weight distribution from 340 to 120,000 daltons has been used alone or in the presence of plasma to determine solute rejection by four hemofilters and the effect of plasma on such rejection. High pressure liquid chromatographic analyses were utilized to establish concentration ratios of feed and filtrate solutions over a wide molecular weight range. At equal transmembrane velocities, the boundary layer-corrected rejection of each hemofilter was determined as a function of molecular weight. The presence of plasma increased rejection by the Amicon Diafilter 30, the Hospal RP-6, and the Gambro FH202 hemofilters , but the Fresenius D-6 was virtually unaffected.     

Primary Malignant Melanoma of the Esophagus in a Young Adult

A 31-year-old white man presented with a 30-day history of dysphagia without weight loss. Esophagogram revealed a lobulated mass at the junction of the middle and lower third of the esophagus. Esophagoscopy showed the presence of a pigmented tumor at that level. Histological examination indicated that the tumor was a primary malignant melanoma. Partial esophagectomy was performed through a right thoracotomy incision, revealing hilar lymph nodes invaded by tumor. One month postoperatively, the patient died from extensive brain metastases.     

Prognostic factors in head and neck adenoid cystic carcinoma

The aim of this study was to analyse the clinical, histological and immunohistochemical prognostic factors of a large series of adenoid cystic carcinoma, using univariate and multivariate survival analyses. All cases of head and neck ACC (n = 129) treated in a single institution in Brazil, between 1955 and 1997, were selected for the study. Univariate survival analysis revealed that age older than 45 years (p = 0.04), period of complaints inferior to 18 months (p = 0.007), presence of paresthesia (p = 0.04), T stage (p = 0.01), N stage (p = 0.04), M stage (p < 0.001), clinical stage (p = 0.003), solid histological type ( p< 0.001), presence of residual tumor (p < 0.001) and expression of p53 (p = 0.08) correlated with a poor prognosis. In the multivariate survival analyses, clinical stage, solid histological subtype and increased expression of p53 were independent significant prognostic factors. According to our findings, clinical stage, solid growth pattern and expression of p53 were the most important prognostic factors in patients with ACC.     

Pulse-loaded intravenous clomipramine in treatment-resistant obsessive-compulsive disorder

INTRODUCTION: Small studies have suggested that intravenous clomipramine (CMI) may be more effective and induce faster improvement in obsessive-compulsive disorder than do orally administered serotonin reuptake inhibitors. OBJECTIVE: To test these hypotheses, we conducted a randomized, double-blind, double-dummy study of pulse-loaded intravenous versus oral CMI, followed by open-label oral CMI for 12 weeks. METHODS: We enrolled a volunteer and referred group of 34 adults with a primary diagnosis of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition obsessive-compulsive disorder of > or =1-year duration and Yale-Brown Obsessive Scale score of > or =20. Eligible subjects had failed > or =2 adequate serotonin reuptake inhibitor trials. Subjects received pulse loaded CMI 150 mg by vein or by mouth on day 1 and 200 mg on day 2. Oral CMI began on day 6 at 200 mg/d and was increased by 25 mg every 4 days to 250 mg/d, as tolerated, for 12 weeks. RESULTS: Adverse events led to one withdrawal during oral pulse loading and 5 during open-label oral treatment. Intravenous pulse loading did not induce a more rapid or greater Yale-Brown Obsessive Scale score decrease than oral pulse loading at day 6 or by week 12. Day 6 and week 12 improvement were unrelated to plasma drug or metabolite concentrations. Pulse loading itself seemed to induce more rapid and greater improvement than expected in treatment-resistant obsessive-compulsive disorder. CONCLUSIONS: Further investigation of oral pulse-loading regimens in treatment-resistant obsessive-compulsive disorder is warranted.     

Predicting Plutonium Decorporation Efficacy after Intravenous Administration of DTPA Formulations: Study of Pharmacokinetic–Pharmacodynamic Relationships in Rats

Purpose The objectives of this study were: 1) to assess the relationship between plutonium decorporation (increased excretion and reduced retention in main organs of deposition) induced by intravenous liposome formulations of the chelating agent diethylene triamine pentaacetic acid (DTPA) and its pharmacokinetics, and 2) to model the renal excretion of plutonium after treatment with liposome-encapsulated DTPA in order to predict its efficacy and to optimise treatment schedules.Materials and Methods Pharmacokinetic parameters from plasma or urinary data (days 0–16 sample collections) were modelled versus decorporation efficacy, and best correlations were selected for their goodness of fit.Results The plutonium decorporation enhancement by DTPA liposomal formulations was well described by logistic models and the best correlation was observed with the area under the DTPA concentration curve of each formulation. The plutonium urinary excretion rates decreased mono-exponentially as a function of time after a single dose and the proposed model allowed a simple determination of the elimination half-life of the Pu–DTPA complex, a reasonably good approximation of the long-term efficacy of the treatments from truncated urinary data.Conclusions Both liposomal formulations of chelating agents and pharmacokinetic approaches to plutonium decorporation should be helpful in optimising treatment protocols.