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Biomedical subjects

X Puig

Publications and source records attributed to X Puig.

13 recordsLinked to original sources
PubMed2001

[Importance of 5569G/A polymorphism in intron 4 of HFE gene in the diagnosis of hereditary hemochromatosis].

BACKGROUND: The presence of the 5569A polymorphism may lead to misdiagnosis of patients susceptible of hereditary hemochromatosis (HH). For that reason, samples containing the Cys282Tyr mutation were revised and the frequency of this polymorphism in our environment was assessed. PATIENTS AND METHOD: Twenty samples were retested and 56 controls were included. The study was performed by PCR-RFLP. RESULTS: The diagnosis was confirmed in 8 cases susceptible of error. However, an amplification deficiency of normal alleles was detected in 2 heterozygous (17%). The allelic frequency of the 5569A polymorphism in the control population was 14.3%. CONCLUSIONS: Although misdiagnosis was not committed, we recommend changing to any primer that does not include the 5569G/A polymorphism in the study of HH.

Adult↗
PubMed2001

BMI-1 gene amplification and overexpression in hematological malignancies occur mainly in mantle cell lymphomas.

The BMI-1 gene is a putative oncogene belonging to the Polycomb group family that cooperates with c-myc in the generation of mouse lymphomas and seems to participate in cell cycle regulation and senescence by acting as a transcriptional repressor of the INK4a/ARF locus. The BMI-1 gene has been located on chromosome 10p13, a region involved in chromosomal translocations in infant leukemias, and amplified in occasional non-Hodgkin's lymphomas (NHLs) and solid tumors. To determine the possible alterations of this gene in human malignancies, we have examined 160 lymphoproliferative disorders, 13 myeloid leukemias, and 89 carcinomas by Southern blot analysis and detected BMI-1 gene amplification (3- to 7-fold) in 4 of 36 (11%) mantle cell lymphomas (MCLs) with no alterations in the INK4a/ARF locus. BMI-1 and p16INK4a mRNA and protein expression were also studied by real-time quantitative reverse transcription-PCR and Western blot, respectively, in a subset of NHLs. BMI-1 expression was significantly higher in chronic lymphocytic leukemia and MCL than in follicular lymphoma and large B cell lymphoma. The four tumors with gene amplification showed significantly higher mRNA levels than other MCLs and NHLs with the BMI-1 gene in germline configuration. Five additional MCLs also showed very high mRNA levels without gene amplification. A good correlation between BMI-1 mRNA levels and protein expression was observed in all types of lymphomas. No relationship was detected between BMI-1 and p16INK4a mRNA levels. These findings suggest that BMI-1 gene alterations in human neoplasms are uncommon, but they may contribute to the pathogenesis in a subset of malignant lymphomas, particularly of mantle cell type.

Cyclin-Dependent Kinase Inhibitor p16↗
PubMed2000

[Relationship between quality and cost of the drug prescription in primary care].

OBJECTIVES: With a system of qualitative indicators, to analyse the pharmaceutical prescription of general practitioners (GPs), and to evaluate the relationship of these indicators to the overall pharmaceutical prescription expenditure per inhabitant. DESIGN: Retrospective descriptive study. SETTING: Primary care. MEASUREMENTS AND MAIN RESULTS: The drugs prescription of 285 GPs from 32 primary care teams was evaluated, with the individual prescription of each doctor as the unit of analysis. The prescription was classified in 3 categories according to its intrinsic value (IV): low (< or = 75%), medium (76-79%) and high (> or = 80%). Selected as tracers of over-prescription were: daily dose per inhabitant (DDI) of antibiotics (AB), DDI of non-steroid anti-inflammatory drugs (NSAID), and DDI of ulcer drugs (ULC). Selected as tracers of selection were: % DDI third-generation cephalosporins/DDI total cephalosporins; % DDI broad-spectre quinolones/DDI total quinolones; and % DDI NSAID/DDI NSAID plus analgesics. Quantitative indicators studied were: total expenditure per allocated population, cost per drugs prescription of doubtful efficacy, and cost per daily dose of AB, NSAID and ULC. Variance analysis, including the Scheffe test for multiple comparisons and Pearson's linear correlation, was applied. 26% of the prescriptions had an IV below 75%, and 34% had an IV above 80%. The means of DDI of AB among the categories of IV were different (p < 0.0001), as were those of DDI of NSAID (p < 0.0001) and of ULC (p = 0.007). Lower consumption of AB, NSAID and ULC was found in prescriptions with the highest IV %. The third-generation cephalosporins and the NSAID + analgesics showed significant differences in the three IV categories (p < 0.0001 and p = 0.041), unlike broad-spectrum quinolones (p = 0.18). The total expenditure per allocated population was less for GPs whose prescriptions had the highest IV %; whereas the cost per prescription and cost per daily dose showed no significant differences for IV categories. CONCLUSIONS: The doctors with the best qualitative profile on these indicators had less expenditure per inhabitant. However, no differences were found in the cost per prescription or cost per treatment between doctors. Therefore, interventions must prioritize improving drug prescription quality rather than just promoting changes to lower-cost drugs.

Costs and Cost Analysis↗
PubMed1995

Systemic capillary leak syndrome.

Systemic capillary leak syndrome is a rare, severe disorder with a high mortality rate. It consists of the shift of fluid and proteins from the intravascular to the extravascular compartment with subsequent hypovolemic shock. We describe a 34-year-old-woman who had several episodes of generalized edema that evolved to hypovolemic shock. During the acute phase, laboratory investigations revealed marked hypoproteinemia, leukocytosis, and high levels of hematocrit and hemoglobin. A paraprotein IgG kappa chain was detected. Although different therapeutic trials were used, the patient continued to have similar episodes and she died during an acute episode 2 1/2 years after the first symptom of this disorder. The cause of systemic capillary leak syndrome is unknown. The presence of a paraprotein IgG is frequent in this group of patients.

Adult↗
PubMed1993

Bronchial stump aspergillosis four years after lobectomy.

Bronchial stump aspergillosis (BSA) is an unusual entity. We report a case presenting hemoptysis four years after right upper lobe resection because of lung cancer. Simple removal of the silk suture is most likely the treatment of choice. No additional local or systemic antifungal therapy is needed.

Adult↗
PubMed1993

[Malignant pleural mesothelioma. A diagnostic and therapeutic challenge].

Malignant pleural mesothelioma is a tumor very difficult to diagnose and with a very controversial therapy. We describe an illustrative case with development of pleural overflow and detection of high adenosine-deaminase levels. Surgical resection combined with radiotherapy and/or chemotherapy is the current therapeutics. We describe the state-of-the-art advances in the immunohistochemical diagnosis and therapeutics and we stress the need to conduct cooperative studies in order to achieve a better knowledge of the prognosis factors, an effective step-by-step approach and innovative therapy strategies.

Biopsy, Needle↗
PubMed1986

Nifedipine in the treatment of renal colic.

A double-blind randomized, clinical trial was conducted in 43 patients to evaluate the efficacy of sublingual nifedipine in the treatment of pain in renal colic. Comparison was made with a combination of dipyrone, pitofenone and fenpipramide, which is usually administered intravenously in Spain. With nifedipine, pain completely disappeared in 44% of the cases, and with the combination of drugs, in 89% (p less than 0.005). More adverse effects were noted with the combination than with nifedipine. Both treatments brought about a slight drop in arterial pressure without leading to hypotension in any case. There was no change in heart rate. The possible causes of the relatively low level of success with nifedipine were analyzed. The possibility of using nifedipine under certain circumstances in which other drugs are contraindicated or when their administration is unfeasible is suggested.

Adult↗
PubMed1985

[Norwegian scabies].

A typical case of norwegian scabies is reported in a patient with diabetes and chronic lymphoid leukaemia under immunosuppressive therapy. Clinical differential diagnosis, diagnosis procedures, and frequent development of an epidemic of common scabies in contacts are emphasized.

Aged↗
PubMedDate not supplied

Impact of mycophenolate mofetil dose posttransplantation on 12-month renal function: analysis of the MOST database.

INTRODUCTION: Mycophenolate mofetil (MMF) has greatly reduced the risk of acute rejection episodes (ARE) after renal transplantation, but dose reductions/withdrawals could jeopardize long-term results. METHODS: The MOST database of "de novo" patients treated with MMF at month 1 and functioning grafts at month 12 were divided into 2 groups: groups 1, 2 g MMF at month 1 and month 12; and group 2, 2 g MMF at month 1 but MMF <2 g at month 12 to evaluate renal function glonerular filtration rate (GFR). RESULTS: In this study, 1136 patients were receiving 2 g MMF at month 1. On month 12, 645 were on 2 g (56.8%, group 1) and 431 were on <2 g (43.2%, group 2). Group 1 included younger recipients of younger donors with fewer patients with delayed graft function (DGF). Group 1 showed more ARE during month 1 and more patients who received induction. Mean Neoral daily doses at month 1/month 12 were 5.3/3.0 and 5.3/3.1 mg/kg in group 1 and group 2, respectively (P = .05 at month 12). GFR in group 1 and group 2 were 59.06 (CI 57.10-60.60) and 53.81 (CI 52-55.7) at month 1 (P < .001); 63.7 (CI 62.1-65.30) and 55.9 (CI 54.1-57.7) mL/min*1.73 m(2) at month 12 (P < .001). The mean increases in GFR between month 1 and month 12 were 4.64 and 1.94 mL/min*1.73 m(2), respectively (P < .05). A multivariate analysis also included 795 patients from the "maintenance" patient database with retrospective detailed information. The following parameters were highly predictive for good renal function at month 12: donor age younger than 60 years, recipient age younger than 60 years, immediate graft function, 12-month MMF dose = 2 g, absence of CMV infection, and 12-month Neoral dose <3 mg/kg/d. CONCLUSIONS: Maintenance of MMF dose at 2 g/d during the first year appears to facilitate the attainment of optimal renal function at 12-months after kidney transplantation.

Analysis of Variance↗