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Biomedical subjects

P Madoz

Publications and source records attributed to P Madoz.

At least 19 recordsLinked to original sources
PubMed2006

Infusion of platelets transiently reduces nucleoside overload in MNGIE.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.

Adolescent↗
PubMed2004

Relevance of genetically determined host factors to the prognosis of meningococcal disease.

To assess the relevance of genetically determined host factors for the prognosis of meningococcal disease, Fc gamma receptor IIA (FcgammaRIIA), the tumor necrosis factor alpha (TNF-alpha) gene promoter region, and plasminogen-activator-inhibitor-1 (PAI-1) gene polymorphisms were studied in 145 patients with meningococcal disease and in 290 healthy controls matched by sex. Distribution of FcgammaRIIA, TNF-alpha, and PAI-1 alleles was not significantly different between patients and controls. Patients with the FcgammaRIIA-R/R 131 allotype scored > or =1 point in the Barcelona prognostic system more frequently than patients with other allotypes (odds ratio, 18.6; 95% confidence interval, 7.1-49.0, P<0.0001), and they had a higher risk of sequelae (odds ratio, 3.5; 95% confidence interval, 1.1-11.7; P=0.03). Fc gamma receptor IIA polymorphism was associated with markers of disease severity, but TNF-alpha and PAI-1 polymorphisms were not.

Adolescent↗
PubMed2004

Improvement in quality of life in patients with advanced Parkinson's disease following bilateral deep-brain stimulation in subthalamic nucleus.

In this article we investigate the changes observed in the scales that quantify the quality of life (PDQ-39) in patients that have already completed 1 and 2 years of bilateral subthalamic stimulation (DBS-STN). Fourteen patients were evaluated 1 year after DBS-STN; the evaluation was repeated on 11 of them, 2 years after surgery. All of them suffered from Parkinson's disease with a 14.3 (+/-5.7) years history of motor complications. Patients were selected according to CAPSIT criteria. All of them were implanted bilateral electrodes in the subthalamic nucleus. The parameters applied were UPDRS II, UPDRS III, PDQ-39, and the scale of quality of life for caregivers (SQLC). Scorings in motor scales (UPDRS III) improved 45% in relation to the first year, and 48% in relation to the second year (P < 0.001). Patient's quality of life (PDQ-39 summary index) improvement was 62% 2 years after surgery (P < 0.001), and caregivers' quality of life improvement was 68% (P = 0.002) by the same time. DBS-STN is a therapy that efficiently improves the quality of life of selected patients with Parkinson's disease. This improvement is still present 2 years after surgery and has a positive impact on caregivers quality of life.

Aged↗
PubMed2003

[Neuropsychological changes and bilateral subthalamic deep brain stimulation in Parkinson's disease].

INTRODUCTION: To investigate neuropsychiatric changes in Parkinson's disease (PD) patients after 12 months of bilateral subthalamic deep brain stimulation (DBS-STN). SUBJECTS: Nine out of 23 patients with PD subjected to DBS-STN were included. The mean follow-up of this cohort was 12 months, mean disease duration 14.2 5.5 years and mean UPDRS motor score in < > 43.2 13.7. METHODS: Patients were selected on the basis of CAPSIT criteria. They underwent bilateral implant of stimulators in STN under stereotactic conditions. Quality of life scale (PDQ 39), depression scale (Brev-Cet), frontal function test (Stroop, Wisconsin, verbal fluency) and memory evaluation (Barcelona test) were monitored at baseline in < > medication and after 12 months in < > medication/< > stimulation. RESULTS: The patients' motor scores improved on an average of 40.2 % (p = 0.0002) in < > medication situation and 58 % in quality of life scores. We observed a benefit in depression scores (52 %, p = 0.003). Immediate verbal memory improved as well, 25 % (p = 0.04) in recall memory and 14 % (p = 0.02) in recognition memory. No changes were observed in visual memory, verbal fluency and/or global cognitive tests. CONCLUSION: DBS-STN in PD patients seems to be an effective tool for improving their quality of life, due to its benefits on motor function, verbal memory and mood. Bilateral DBS-STN did not affect either verbal fluency or executive functions in our patients. Neuropsychological assessment is a good tool for selection and study of the operated patients.

Activities of Daily Living↗
PubMed2003

[Bilateral subthalamic nucleus deep-brain stimulation (STN-DBS) in Parkinson's disease: initial experience in Cruces Hospital].

INTRODUCTION: Clinical outcomes of Parkinson's disease patients treated for 12 months with STN-DBS were analyzed. PATIENTS ADN METHODS: Twelve patients were selected using the CAPSIT protocol criteria and placement of electrodes in the appropriate target was performed according to results of fusion image techniques and intraoperative microrecording. RESULTS: A reduction in motor UPDRS (44 %) and activities of daily living (58 %) scores during < > phases were observed. < > time with dyskinesias was reduced (86 %), while severe dyskinesias disappeared. Levodopa dosage was also lowered (44 %). Patients and caregivers showed a clear-cut benefit on quality of life (58 % and 61 % respectively). No cognitive deterioration was observed and morbidity was in the same range as that published by other teams. CONCLUSION: Bilateral STN-DBS is an effective symptomatic therapy for complicated Parkinsońs disease patients. It improves the quality of life of patients and their caregivers and allows a reduction of levodopa dosage.

Aged↗
PubMed2000

Mobilization kinetics of peripheral blood progenitor cells after IAPVP-16 salvage chemotherapy plus G-CSF in lymphoproliferative disorders.

We have explored the efficacy of salvage chemotherapy combination, IAPVP-16 (ifosfamide 5 g/m2 on day 1; VP-16 100 mg/m2 on days 1-3; ara-C 1.2 g/m2/12 h on days 1 and 2; methylprednisolone 80 mg/m2 on days 1-5) plus G-CSF for PBPC mobilization. This protocol was used in 45 patients with relapsed or refractory lymphoproliferative diseases who underwent 85 leukaphereses. In 41 patients > 2 x 106/kg CD34+ cells were obtained after a median of two procedures. The median number of CD34+ cells harvested was 3.2 x 106/kg per apheresis and 8.4 x 106/kg per patient. Seven of 10 patients who had failed previous mobilization attempts achieved more than 2 x 106 CD34+ cells/kg in a maximum of three aphereses. A history of previous mobilization failure and a low platelet count (<150 x 109/l) negatively influenced the CD34+ cell yield in univariate and multivariate analyses. A good correlation was found between the circulating CD34+ cells/microl and the CD34+ cells and CFU-GM in the leukaphereses products (r = 0.93 and r = 0.73, P < 0.001), and > or =17 CD34+ cells/microl predicted the achievement of > 2 x 106/kg CD34+ cells in a single leukapheresis in more than 90% of cases. IAPVP-16 plus G-CSF may be specially indicated in tandem transplantations or CD34+ selection and in patients who have failed previous mobilization attempts.

Adult↗
PubMed2000

Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time.

Lower levels of factor VIII and von Willebrand factor (vWF) have been reported in individuals with blood type O compared with individuals with other ABO blood types. However, this relationship has been demonstrated only by association studies and not by linkage studies. Also, it is not clear whether the ABO locus exerts a functional effect directly on these plasma factors or whether the ABO locus is in linkage disequilibrium with another locus that controls these factors. To distinguish between these 2 possibilities, we applied new statistical methods combining linkage and association tests in a pedigree-based sample. In contrast to most previous studies that used the ABO phenotypes, our study used the ABO genotypes, permitting us to distinguish AO from AA and BO from BB. Our results clearly showed significant linkage between the ABO locus and vWF antigen (P=0.00075). In addition, factor VIII coagulant activity and activated partial thromboplastin time showed suggestive linkage with the ABO locus (P=0.10 and P=0.13). All 3 plasma phenotypes showed significant differences between OO and non-OO genotypes. In addition, vWF antigen exhibited significant differences between O heterozygotes and non-OO homozygotes. This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes.

ABO Blood-Group System↗
PubMed1998

Antiepileptic drugs and atypical evolution of idiopathic partial epilepsy.

Six patients with classic benign epilepsy of childhood with centrotemporal spikes, treated with carbamazepine (four patients) or sodium valproate (two patients) evolved atypically because the epileptic disorder, diffusion of the electroencephalographic (EEG) discharges during wakefulness, and continuous spike-and-wave during slow sleep associated with severe neuropsychologic abnormalities worsened. These features appeared after a seizure-free interval varying for 2 weeks to 1 year 6 months after initiating therapy and remitted when the previous anticonvulsant drug was discontinued and either substituted with another drug or the patient was left without any treatment. Once the initial antiepileptic drug was discontinued and after a period roughly proportional to the duration of the clinical-EEG complication, the evolution of the patients' seizures was not unusual for this type of epilepsy, with patients eventually becoming free of both seizures and medication and reaching normal school achievement. The clinical complications cannot be attributed solely to the drugs. It must also be related to the underlying substract (i.e., the specific epileptic syndrome involved) that in some patients becomes susceptible to atypical evolution when either product is administered.

Anticonvulsants↗
PubMed1998

Collection of peripheral blood progenitor cells for autografting with low-dose cyclophosphamide plus granulocyte colony-stimulating factor.

BACKGROUND AND OBJECTIVE: The combination of high or intermediate-dose cyclophosphamide (CY) plus granulocyte colony-stimulating factor (G-CSF) is useful to mobilize hematopoietic progenitor cells to peripheral blood, but the patients require hospitalization. The aim of this study was to evaluate the efficiency of low-dose CY plus G-CSF (5 ug/kg/day s.c.) as an outpatient treatment in order to collect enough progenitor cells for hematopoietic rescue in autologous peripheral blood transplantation (APBSCT). DESIGN AND METHODS: We analyzed twenty-eight consecutively treated patients with lymphoma or multiple myeloma. The number of CD34+ cells in blood samples was determined from day +7. Leukapheresis (LKP) began when the absolute number of CD34+ cells in peripheral blood was > 2500/mL and the apheresis product was assayed for mononuclear cells (MNC), granulocyte-macrophage colony-forming units (CFU-GM), total nucleated cells (tNC) and CD34+ cells. RESULTS: Twenty-eight outpatients with advanced hematologic malignancies (13 non-Hodgkin lymphoma, NHL; 10 Hodgkin's disease, HD; and 5 multiple myeloma, MM), median age 44 years (range 23-65) received a single dose of CY (1.5 g/m2 i.v. day 0) followed by G-CSF (5 ug/kg/day s.c.) from day +1 to the end of LKP. Considering patients who had successful mobilization (64%), a median of 7.1 x 10(6)/kg CD34+ cells (range 3.5-11.9), 5.7 x 10(5)/kg CFU-GM (range 1.5-9.2), 4.4 x 10(8)/kg MNC (range 1.9-7.9) were collected. Treatment was well tolerated and none of these patients was hospitalized due to neutropenic fever. Only one patient received two packed red blood cells following chemotherapy. Autologous peripheral blood stem cell transplantation (APBSCT) has been performed in 18 patients (64%). The mean number of days to achieve > 0.5 x 10(9) PMN/L and > 20 x 10(9) PLT/L was 12 (10-17) and 12.6 (8-24), respectively. INTERPRETATION AND CONCLUSIONS: Considering a pre-established threshold of 2.5 x 10(6)/kg CD34+ cells to proceed to APBSCT, the mobilization therapy was successful in 64% of the patients but was unsuccessful in 10 patients (5 NHL, 4 HD and 1 MM). Hematopoietic recovery was complete and stable in all patients. Low-dose CY plus G-CSF is efficient to collect enough PBSC for hematopoietic rescue after myeloablative therapy in patients with lymphoprolipherative disorders or multiple myeloma.

Adult↗
PubMed1998

The placental blood program of the Barcelona Cord Blood Bank.

Cord blood has recently become an alternative to bone marrow transplantation, generating the need for cord blood banks where large numbers of frozen cord blood units can be stored. The Barcelona Cord Blood Bank (bcB) was created in October 1995. Initially, several methods for volume reduction were tested, including Ficoll, Percoll, Gelatin and HES sedimentation. Of these, HES sedimentation (88% +/- 11 CD34+ cells recovery) was the one chosen for routine banking. Up to November 1997, the bank has processed 754 units with a median of 1.05 x 10(9) nucleated cells and 2.5 x 10(6) CD34+ cells stored per unit. Nine of these units have been shipped for transplantation.

Adult↗
PubMed1997

Efficient peripheral blood stem cell mobilization with low-dose G-CSF (50 microg/m2) after salvage chemotherapy for lymphoma.

We compared the use of low-dose G-CSF (50 microg/m2/day), following salvage chemotherapy, for mobilization of PBSC with the results obtained in a comparable historical control group who received a standard dose of G-CSF (5 microg/kg/day, approximately 200 microg/m2/day). Thirty adult patients with relapsed or refractory lymphoma were treated with ifosfamide, VP-16, intermediate-dose Ara-C, methylprednisolone (IAPVP-16) and G-CSF 5 microg/kg/day (group A, n = 15) or 50 microg/m2/day (group B, n = 15) from day 6 until the end of leukaphereses. The duration of neutropenia and thrombocytopenia were equal in both groups. A median of two (1-3) leukaphereses were performed in both groups to harvest >3.5 x 10(6)/kg CD34+ cells. The numbers of circulating CD34+ cells on the first day of leukocyte recovery were similar in both groups in those patients mobilized after a first cycle of IAPVP-16. The numbers of circulating CD34+ cells were similar in patients mobilized after a first and after a second IAPVP-16 in group A. In the low-dose group (group B), however, the numbers of circulating CD34+ cells were significantly lower in those mobilized after a second than after a first course. Additionally, the product of the first leukapheresis contained significantly fewer CD34+ cells in those mobilized after a second course only in group B, with no differences in group A. Nevertheless, the final products harvested did not differ in the content of MNC, CFU-GM and CD34+ cells, suggesting that these differences are not clinically important. These results indicate that the use of low-dose G-CSF (50 microg/m2/day) is as effective as 5 microg/kg/day in accelerating neutrophil recovery and mobilizing CD34+ cells after a first cycle of IAPVP-16 salvage chemotherapy, resulting in a substantial decrease in costs, while more heavily pretreated patients may require higher doses of G-CSF for an equivalent mobilization.

Adolescent↗
PubMed1996

[Isolated thrombocytopenia in pregnancy. Etiopathogenic study and therapeutic approach in 60 patients].

BACKGROUND: We analyze the etiopathogenesis and clinical and immunohematological characteristics of 60 pregnant women with isolated thrombocytopenia (TP) (platelet count < 150 x 10(9)/l); and the frequency of TP and hemorrhagic complications in their newborn. We suggest the therapeutic approach for each maternal TP type. PATIENTS AND METHODS: We performed: clinical history, platelet count (EDTA K3, sodium citrate, microscopic exam) and investigation of antiplatelet antibodies (immunofluorescence) in all pregnant women. A familial history and ultrastructure of platelets were studied when hereditary macrothrombocytopenia (HM) was suspected. A Levine's test of homogenicity of variances was applied to compare the mean platelet count in each diagnostic group. A linear regression between maternal and newborn platelet counts was performed. RESULTS: In 37 thrombocytopenic women (62%) no antiplatelet antibodies were found, and the clinical history was negative for previous TP or abnormal bleeding. Four patients (7%) were diagnosed as pseudothrombocytopenia EDTA-mediated, and eight (13%) of HM. Finally, an autoimmune etiology was suspected in 11 women (18%) and antiplatelet antibodies were detected in 9. Mean platelet counts of mother with immune TP did not show statistically significant differences with other diagnostic groups. Abnormal bleeding was not observed in any patient or newborn. There was no correlation between platelet counts of mothers and newborns. Platelet count obtained by skull bone punction led to unnecessary caesarians in four cases. CONCLUSIONS: The frequency of immune thrombocytopenia in pregnant women is low (18%). There is a high prevalence of benign TP (62%). The pseudothrombocytopenias and HM are frequent findings (20%), and special care is advisable in these cases to avoid unnecessary therapeutic procedures.

Female↗
PubMed1996

[Post-transfusion purpura. Description of 2 cases diagnosed at the same hospital in a 6-month period].

Two new cases of postransfusional purpura diagnosed at the same hospital within the space of six months are described. This finding supports the idea that despite being an infrequent disorder, a substantial rise in PTP cases inside and outside our country, has been recorded. This increase has coincided with a greater interest in platelet immunology and, particularly, in complications associated with blood transfusion. Both cases constitute an example of the clinical epidemiological profile which characterizes the patients suffering from this disorder. The patients are two women aged 74 and 60 years who after 8 and 9 days, respectively, of being transfused with red cells developed a severe thrombocytopenia accompanied by generalized haemorrhagic diathesis. The serological studies performed revealed the presence, in both patients, of an HPA-1a platelet specific antibody. The platelet genotyping enabled us to confirm this specificity after detecting an HPA-1 (a-b+) platelet genotype. The treatment with immunoglobulins at high doses proved to be effective in both cases. The adsorption-elution experiments of the antibody versus HPA-1 (a + b) platelets were positive in the patient with the highest antibody titre (1024). This finding support the most recent hypothesis concerning the pathogenic mechanism of PTP. According to this theory, the antibody, which is detected in the acute phase of the PTP, would not yet have acquired the restricted specificity corresponding to it. This could enable it to react with a structure shared by the HPA-1a positive and HPA-1a negative platelets.

Aged↗
PubMed1996

Hereditary macrothrombocytopenia and pregnancy.

INTRODUCTION: Hereditary macrothrombocytopenias (HM) are a group of infrequent disorders characterized by hereditary giant platelets. Little has been published about the course of these diseases during pregnancy and delivery. SUBJECTS AND METHODS: Forty consecutive thrombocytopenic pregnant women were studied. Platelet count, mean platelet volume and blood smear examination were performed. Platelet antibodies were studied by immunofluorescence. Familial study, bleeding time, ultrastructural platelet examination, a von Willebrand disease screening and aggregation tests were carried out when HM was suspected. RESULTS: Four cases of HM were diagnosed. Giant platelets were observed in all cases, with the typical ultrastructural pattern. Döhle-like cytoplasmic inclusions in granulocytes were observed in one case. Platelet antibodies were detected in only one case. No prophylactic measures to prevent haemorrhage were adopted, and all patients underwent vaginal deliveries. Haemorrhagic events were absent in both mothers and children. CONCLUSIONS: The prevalence of HM in pregnant trombocytopenic women is higher than assumed. Prophylactic treatment should be avoided in the absence of a history of haemorrhagic complications and obstetrical risk factors.

Adult↗