José Roberto Lambertucci

Color and genomic ancestry in Brazilians

This work was undertaken to ascertain to what degree the physical appearance of a Brazilian individual was predictive of genomic African ancestry. Using a panel of 10 population-specific alleles, we assigned to each person an African ancestry index (AAI). The procedure was able to tell apart, with no overlaps, 20 males from northern Portugal from 20 males from São Tomé Island on the west coast of Africa. We also tested 10 Brazilian Amerindians and observed that their AAI values fell in the same range as the Europeans. Finally, we studied two different Brazilian population samples. The first consisted of 173 individuals from a rural Southeastern community, clinically classified according to their Color (white, black, or intermediate) with a multivariate evaluation based on skin pigmentation in the medial part of the arm, hair color and texture, and the shape of the nose and lips. In contrast to the clear-cut results with the African and European samples, our results showed large variances and extensive overlaps among the three Color categories. We next embarked on a study of 200 unrelated Brazilian white males who originated from cosmopolitan centers of the four major geographic regions of the country. The results showed AAI values intermediate between Europeans and Africans, even in southern Brazil, a region predominantly peopled by European immigrants. Our data suggest that in Brazil, at an individual level, color, as determined by physical evaluation, is a poor predictor of genomic African ancestry, estimated by molecular markers.

Treatment of Schistosomal Myeloradiculopathy with Praziquantel and Corticosteroids and Evaluation by Magnetic Resonance Imaging: A Longitudinal Study

BACKGROUND The best treatment for schistosomal myeloradiculopathy (SMR) remains undefined. There is also no longitudinal study to estimate the value of magnetic resonance imaging (MRI) in the diagnosis and follow-up of this disease. METHODS Patients with the following presentation were considered for study: lumbar and/or lower limb pain; lower limb weakness; anesthesia, hypoesthesia, or paresthesia; bladder and/or intestinal dysfunction; and sexual impotence. Sixteen patients with SMR were treated with oral praziquantel (50 mg/kg in a single dose) and methylprednisolone (15 mg/kg/day intravenously for 5 days) followed by prednisone (1 mg/kg/day orally for 6 months). Clinical outcome was prospectively evaluated in months 2 and 6 of treatment. RESULTS Image alterations were detected by MRI at diagnosis for all patients, and normalization or improvement was reported at the end of treatment. There was statistically significant clinical melioration at both the second and sixth months of therapy for most neurological alterations. However, the best clinical outcome was achieved when the steroid was given for >2 months. CONCLUSIONS Treatment with praziquantel associated with corticosteroids was successful in all cases. MRI proved to be a good method for the diagnosis of SMR and helpful in the evaluation of response to treatment.

Serum and cerebral spinal fluid levels of chemokines and Th2 cytokines in Schistosoma mansoni myeloradiculopathy

Schistosomal myeloradiculopathy (SMR) is the most common neurological form of Schistosoma mansoni infection. In this study we investigated the expression of chemokines and Th2 cytokines in serum and cerebral spinal fluid (CSF) of SMR patients. SMR patients presented increased serum levels of CCL11/eotaxin and CCL24/eotaxin‐2 when compared to controls. SMR patients also had higher levels of IL‐13 in CSF. Thus, SMR patients present enhancement of both IL‐13 and CCR3 acting chemokines, both of which may facilitate the expression of a Th2 response and Th2‐dependent damage to the spinal cord. As this cytokine is responsible for promoting Th2 responses, this finding is in accordance to the view that Th2 cells are important in the immunological process against the S. mansoni.

The role of chemokines in Schistosoma mansoni infection: insights from human disease and murine models

Chemokines are a superfamily of low-molecular-weight cytokines that were initially described for their chemoattractant activity. It is now clear chemokines have several other activities that modulate immune processes. More than 50 chemokines ligands and at least 19 receptors have been described to date. Depending on the number of N-terminal cysteine residues, chemokines are grouped in the subfamilies CXC, CC, C or CX3C. A growing body of evidence suggests a role for chemokines in the pathogenesis of several inflammatory diseases. Our studies involving mice and humans infected with Schistosoma mansoni suggest an important role of the chemokine CCL3 and its receptors (CCR1 and CCR5) in the pathogenesis of severe schistosomiasis. We suggest that the differential activation of CCR1 or CCR5 during the course of schistosomiasis may dictate the outcome of the disease.

Early Right Cardiac Dysfunction in Patients with Schistosomiasis Mansoni

Background: Pulmonary hypertension (PH) is a complication of schistosomiasis mansoni (SM), mainly in the hepatosplenic form. However, its prevalence is not well established. We evaluated the usefulness of Doppler echocardiographic indexes to detect right heart dysfunction in SM. Methods: A total of 83 patients divided into two groups were studied: Group 1: 44 patients with hepatosplenic SM, and Group 2: 39 patients with hepatointestinal SM who served as controls. All patients underwent a Doppler echocardiogram. Right ventricular end‐diastolic area (RVEDA), the peak systolic tricuspid annular tissue velocity (S’), right ventricular index of myocardial performance (RVIMP) and right atrial area (RAA) were measured in all patients. Tricuspid regurgitation peak velocity (TR) was measured and the pressure gradient (TG) was obtained. Results: The prevalence of patients with elevated systolic pulmonary artery pressure at echocardiography was 31% in hepatosplenic patients, while no patient with the hepatointestinal form presented PH. Patients with hepatosplenic SM had larger RVEDA (10.0 ± 2.8 vs. 8.5 ± 1.8 cm2/m, P = 0.006) and RAA (9.39 [8.3–11.0] vs. 7.7 [6.9–8.4 cm2/m], P < 0.001). There was correlation between TG and RVIMP (r = 0.58; P < 0.001) and between TG and RAA (r = 0.36; P = 0.03) in Group 1. Conclusion: Larger RAA and RVEDA were found in patients with hepatosplenic SM, when compared to patients with the hepatointestinal form, which may suggest early impairment of RV function in patients with hepatosplenic SM. (Echocardiography 2011;28:261‐267)

Testing the vestibular evoked myogenic potential (VEMP) to identify subclinical neurological alterations in different phases of human T-lymphotropic virus type 1 infection

BACKGROUND CONTEXT The diagnosis of human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is based on clinical signs and the confirmation of HTLV-1 infection in the central nervous system. Electrophysiological tests may facilitate an earlier diagnosis of spinal cord involvement. Vestibular evoked myogenic potential (VEMP) testing evaluates the vestibulospinal tract, which is correlated with the motor tract; the target of damage by HAM/TSP. PURPOSE This study examines the subclinical neurological alterations related to HTLV-1 infection in individuals with asymptomatic HTLV-1 infections, possible HAM/TSP, and confirmed HAM/TSP. STUDY DESIGN Vestibular evoked myogenic potential testing was performed at the beginning of the study and repeated every 6 months for 18 months. Ninety volunteers were selected for the study: 30 were HTLV-1 seronegative (the control group) and 60 were HTLV-1 seropositive (of these, 18 were asymptomatic, 25 had possible HAM/TSP, and 17 had confirmed HAM/TSP). The VEMP response was classified as normal or abnormal (latency prolongation or no response). A change in the VEMP response from normal to abnormal was the event of interest. To perform a survival analysis, the subjects with normal VEMP responses at the first assessment were selected. METHODS The results were analyzed blindly. Vestibular evoked myogenic potential was measured using short tone bursts as acoustic stimuli (1 kHz, 118 dBHL, a rise-fall of 1 millisecond, and a plateau of 2 milliseconds). The stimulation rate was 5 Hz, and the analysis time for each response was 60 milliseconds; each trial averaged 200 responses. RESULTS The mean age of the subjects in the control group was 38 ± 11 years (median 35), and 13 (43%) were men. In the study group, the mean age was 51 ± 12 years (median 53), and 12 (20%) were men. An analysis of the survival curve indicated that the median time for a change in VEMP response from normal to abnormal was 18 months, which is in agreement with the slow progression of HTLV-1-associated neurologic disease. The survival analysis showed that the change in VEMP response was significantly different between the asymptomatic and HAM/TSP groups (p=.02). CONCLUSIONS Vestibular evoked myogenic potential testing was useful for monitoring the development of HAM/TSP in HTLV-1-infected individuals.