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Biomedical subjects

M Puig

Publications and source records attributed to M Puig.

At least 19 recordsLinked to original sources
PubMed2005

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

BACKGROUND: The Ehlers-Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. Periventricular nodular heterotopia (PNH) is a human neuronal migration disorder characterised by seizures and conglomerates of neural cells around the lateral ventricles of the brain, caused by FLNA mutations. FLNA encodes filamin A, an actin binding protein involved in cytoskeletal organisation. The amino-terminal actin binding domain (ABD) of filamins contains two tandem calponin homology domains, CHD1 and CHD2. OBJECTIVE: To report clinical and genetic analyses in a Spanish family affected by a connective tissue disorder suggestive of EDS type III and PNH. METHODS: A clinical and molecular study was undertaken in the three affected women. Clinical histories, physical and neurological examinations, brain magnetic resonance imaging studies, and skin biopsies were done. Genetic analysis of the FLNA gene was undertaken by direct sequencing and restriction fragment length polymorphism analysis. RESULTS: Mutation analysis of the FLNA gene resulted in the identification of a novel mutation in exon 3 (c.383C-->T) segregating with the combination of both syndromes. This mutation results in a substitution of an alanine residue (A128V) in CHD1. CONCLUSIONS: The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. This association constitutes a new variant within the EDS spectrum. This is the first description of a familial EDS-PNH association with a mutation in FLNA.

Amino Acid Substitution↗
PubMed2005

Determination of enrofloxacin and its primary metabolite, ciprofloxacin, in pig tissues. Application to residue studies.

A simple and sensitive HPLC method has been developed for the simultaneous determination of enrofloxacin (ENR) and ciprofloxacin (CIP) in pig tissue using difloxacin (DIF) as internal standard. Tissue sample preparations were carried out by adding phosphate buffer (pH 7.4, 0.1 m), followed by extraction with trichloromethane. Fluoroquinolones were separated on a reversed-phase column and eluted with aqueous buffer solution-acetonitrile (80:20, v/v). The concentrations of CIP, ENR and DIF eluted from the column, with retention times of 2.20, 2.73 and 4.38 min, respectively, were monitored by fluorescence detection at lambda(ex) 276 and lambda(em) 442 nm. The detection and quantitation limit were 8 and 25 ng/g, respectively, for both compounds. Standard curves were linearly related to concentration in the range 25-400 ng/g. The consequences of the introduction of minor reasonable variations (ruggedness studies) have also been analysed. Finally, the measurement of the tissue levels of ENR and CIP in the pig tissues after oral administration confirmed the utility of the proposed method.

Adipose Tissue↗
PubMed2004

Nocardia otitidiscaviarum (GAM-5) induces parkinsonian-like alterations in mouse.

Parkinson's disease, a major neurodegenerative disorder in humans whose etiology is unknown, may be associated with some environmental factors. Nocardia otitidiscaviarum (GAM-5) isolated from a patient with an actinomycetoma produced signs similar to Parkinson's disease following iv injection into NMRI mice. NMRI mice were infected intravenously with a non-lethal dose of 5 x 10(6) colony forming units of N. otitidiscaviarum (GAM-5). Fourteen days after bacterial infection, most of the 60 mice injected exhibited parkinsonian features characterized by vertical head tremor, akinesia/bradykinesia, flexed posture and postural instability. There was a peak of nocardial growth in the brain during the first 24 h followed by a decrease, so that by 14 days nocardiae could no longer be cultured. At 24 h after infection, Gram staining showed nocardiae in neurons in the substantia nigra and occasionally in the brain parenchyma in the frontal and parietal cortex. At 21 days post-infection, tyrosine hydroxylase immunolabeling showed a 58% reduction of tyrosine hydroxylase in the substantia nigra, and a 35% reduction of tyrosine hydroxylase in the ventral tegmental region. Dopamine levels were reduced from 110 +/- 32.5 to 58 +/- 16.5 ng/mg protein (47.2% reduction) in brain from infected mice exhibiting impaired movements, whereas serotonin levels were unchanged (191 +/- 44 protein in control and 175 +/- 39 ng/mg protein in injected mice). At later times, intraneuronal inclusion bodies were observed in the substantia nigra. Our observations emphasize the need for further studies of the potential association between Parkinson's disease or parkinsonism-like disease and exposure to various nocardial species.

Animals↗
PubMed2004

[Sedation in digestive endoscopy. Results of a hospital survey in Catalonia (Spain)].

INTRODUCTION: The need for sedation is increasing in digestive endoscopy units (DEU). There are no data on the use of sedation in DEU in Catalonia (Spain). OBJECTIVE: To evaluate the use of sedation in DEU in Catalonia. MATERIAL AND METHOD: A questionnaire on the practice of sedation was designed and sent to the heads of medical and nursing staff of the DEU of 63 public and private hospitals in Catalonia. Two mailings were sent with an interval of three months between each. The questionnaire included 62 items on the characteristics of the hospital and the DEU, number of explorations, frequency of sedation use, drugs employed, participation of an anesthesiologist, use of monitoring, and complications. RESULTS: Forty-four DEU (70%) corresponding to 31 public hospitals and 13 private hospitals completed the questionnaire. Evaluation of sedation patterns was based on 105,904 explorations performed in the various DEU (56,453 gastroscopies, 47,278 colonoscopies and 2,173 endoscopic retrograde cholangiopancreatographies (ERCP) in 2001. Sedation, sedation-analgesia or anesthesia was used in 17% of gastroscopies, 61% of colonoscopies and 100% of ERCP. Sedation was administered by an anesthesiologist in 7% of gastroscopies, 25% of colonoscopies and 38% of ERCP. Anesthesiologist administration was more frequent in private than in public centers (gastroscopies: 25% vs. 2%; colonoscopies: 57% vs. 9%, p < 0.001). No deaths associated with the use of sedation were reported. Eighty-nine percent of the DEU complied with standard recommendations for the practice of sedation. CONCLUSIONS: In Catalonia, the use of sedation is highly variable, depending on the endoscopic procedure and the DEU. Use of sedation in infrequent in gastroscopy, fairly widespread in colonoscopy and routine in ERCP. Anesthesiologist administration is significantly more frequent in private hospitals. Most DEU follow standard sedation practices.

Anesthesia↗
PubMed2004

The therapeutic role of 5-HT1A and 5-HT2A receptors in depression.

The selective serotonin reuptake inhibitors (SSRIs) are the most frequently prescribed antidepressant drugs, because they are well tolerated and have no severe side effects. They rapidly block serotonin (5-HT) reuptake, yet the onset of their therapeutic action requires weeks of treatment. This delay is the result of presynaptic and postsynaptic adaptive mechanisms secondary to reuptake inhibition. The prevention of a negative feedback mechanism operating at the 5-HT autoreceptor level enhances the neurochemical and clinical effects of SSRIs. The blockade of 5-HT2A receptors also seems to improve the clinical effects of SSRIs. These receptors are located postsynaptically to 5-HT axons, mainly in the neocortex. Pyramidal neurons in the prefrontal cortex are particularly enriched in 5-HT2A receptors. Their blockade may affect the function of prefrontal-subcortical circuits, an effect that probably underlies the beneficial effects of the addition of atypical antipsychotic drugs, which are 5-HT2A receptor antagonists, to SSRIs in treatment-resistant patients.

Autoreceptors↗
PubMed2002

Pubic bone anchoring devices for the surgical treatment of urinary stress incontinence in patients with severe genital prolapse.

The aim of this study was to test a surgical technique for the treatment of stress urinary incontinence associated with genital prolapse through a transvaginal suspension anchored to the pubic bone. Thirty-seven patients with severe genital prolapse and urodynamically proven stress incontinence were operated on with this procedure from February 1998 to May 2000. Preoperatively a detailed history, pelvic examination and urodynamic studies were carried out. The degree of prolapse was assessed pre- and postoperatively in the lithotomy position in accordance with the classification proposed by Baden and Walker [8]. Two titanium bone screws with no. 1 polypropylene sutures attached to them and a battery-operated screw inserter are used to fix the vaginal sutures to the pubic bone bilaterally. The procedure is performed transvaginally with no abdominal or suprapubic incisions. Objective outcomes were assessed by symptom assessment, clinical examination and a full urodynamic evaluation at 6 months postoperatively, and annually by clinical evaluation. Subjective outcomes were assessed by directly interviewing the patients about their postoperative urinary symptoms and asking them to classify their level of satisfaction. An objective cure rate (no objective loss of urine during coughing in the absence of a simultaneous detrusor contraction) at the 6-month postoperative urodynamic evaluation was observed in 23 of 37 patients (62%). Recurrent anterior vaginal wall prolapse (grade 2) had developed in 7 of 37 patients (27%). Subjectively, 73% of the patients expressed satisfaction with the procedure. Early results using two bone screws into the pubis to fix the periurethral and perivesical tissues and vagina to the posterior surface of the pubic bone were disappointing. Based on our results we have abandoned the use of this procedure to correct stress incontinence associated with severe genital prolapse.

Aged↗
PubMed2001

Molecular characterization of two natural hotspots in the Drosophila buzzatii genome induced by transposon insertions.

Transposable elements (TEs) have been implicated in the generation of genetic rearrangements, but their potential to mediate changes in the organization and architecture of host genomes could be even greater than previously thought. Here, we describe the naturally occurring structural and nucleotide variation around two TE insertions in the genome of Drosophila buzzatii. The studied regions correspond to the breakpoints of a widespread chromosomal inversion generated by ectopic recombination between oppositely oriented copies of a TE named Galileo. A detailed molecular analysis by Southern hybridization, PCR amplification, and DNA sequencing of 7.1 kb surrounding the inversion breakpoints in 39 D. buzzatii lines revealed an unprecedented degree of restructuring, consisting of 22 insertions of ten previously undescribed TEs, 13 deletions, 1 duplication, and 1 small inversion. All of these alterations occurred exclusively in inverted chromosomes and appear to have accumulated after the insertion of the Galileo elements, within or close to them. The nucleotide variation at the studied regions is six times lower in inverted than in noninverted chromosomes, suggesting that most of the observed changes originated in only 84,000 years. Galileo elements thus seemed to promote the transformation of these, otherwise normal, chromosomal regions in genetically unstable hotspots and highly efficient traps for transposon insertions. The particular features of two new Galileo copies found indicate that this TE belongs to the Foldback family. Together, our results strengthen the importance of TEs, and especially DNA transposons, as inducers of genome plasticity in evolution.

Animals↗
PubMed2000

Somatostatin receptor scintigraphy predicts impending cardiac allograft rejection before endomyocardial biopsy.

The invasive nature of endomyocardial biopsy has led to a search for alternative diagnostic modalities for the detection of cardiac allograft rejection. To date, no non-invasive test meets all the requirements for the detection of acute and chronic rejection. The rejection process usually presents with lymphocyte infiltration with or without myocyte necrosis, which indicates the severity of cardiac allograft rejection and the necessity of treatment. Activated lymphocytes express somatostatin receptors; thus somatostatin receptor imaging could be used to target them. The aim of this study was to assess the feasibility of using somatostatin receptor imaging to target activated lymphocytes in the process of cardiac allograft rejection. Thirteen somatostatin receptor imaging studies were performed on ten cardiac allograft recipients 12-4,745 days after transplantation, simultaneously with endomyocardial biopsy, to assess the imaging of activated lymphocytes in comparison with histological findings. Somatostatin receptor imaging was performed 4 h after the injection of 110 MBq of the somatostatin analogue indium-111 pentetreotide. 111In-pentetreotide uptake was visually scored and semi-quantitatively estimated by the calculation of a heart-to-lung ratio (HLR). The visual score correlated with the HLR. Intense/moderate uptake on visual assessment and an HLR >1.6 was observed in eight studies. In three of these studies there was significant rejection in the simultaneous endomyocardial biopsy [International Society of Heart and Lung Transplantation (ISHLT) rejection grade 3A/4]. Intense/moderate uptake was associated with mild or no rejection in the remaining five patients, and in four of them the next endomyocardial biopsy performed 1 week later demonstrated significant rejection requiring treatment. Two patients with low uptake and an HLR <1.6 had no evidence of rejection either in the simultaneous endomyocardial biopsy or in the endomyocardial biopsy performed the following week. These preliminary results indicate the feasibility of targeting activated lymphocytes with somatostatin receptor imaging in the detection of cardiac allograft rejection. Somatostatin receptor imaging may predict impending rejection at least 1 week before the endomyocardial biopsy becomes positive. The late appearance of diagnostic endomyocardial biopsy probably reflects a lag-time between lymphocytic activation and induction of myocyte damage. Furthermore, somatostatin receptor imaging at 4 h may in any case allow earlier intervention in the event of rejection, given the time required for histological processing of endomyocardial biopsy.

Biopsy↗
PubMed2000

Detection of phages infecting Bacteroides fragilis HSP40 using a specific DNA probe.

Nine bacteriophage isolates of Bacteroides fragilis, obtained from urban sewage and pig faeces samples using four different host strains (HSP40, RYC4023, RYC2056 and RYC3318), were compared on the basis of morphology, host range, DNA restriction patterns, DNA hybridisation and protein composition. All the phages are siphovirus and, as judged from cleavage by restriction endonucleases, their genome is composed of double-stranded DNA of similar size ( approximately 51-kb). Host range analysis differentiated two types of phages: (1) phages that clearly infect B. fragilis strains HSP40 (B40-2, B23-1, B23-2, B23-3 and B23-4, of which B40-8 is the phage type); and (2) the group of bacteriophages that were not infectious for HSP40 (B56-1, B56-2 and B18-1). Similarity in DNA restriction patterns and protein characteristics was found in the HSP40 infectious phages. Anti-B40-8 serum recognised only the proteins of the phages of this type. Although all phages showed similar major protein sizes, minor specific bands were detected. Bacteriophages B56-1, B56-2 and B18-1 showed heterogeneity in their DNA restriction profiles although some degree of DNA-DNA homology between all genomes was observed. Southern blot analysis with phage B40-8 DNA based probes identified a 1.5-kb DNA region homologous for all HSP40 phage isolates, but absent in the genome of the other phage isolates that did not infect this bacterial strain. The homologous region was used as a specific probe to specifically detect B. fragilis HSP40 phages.

Animals↗
PubMed2000

Description of a DNA amplification procedure for the detection of bacteriophages of Bacteroides fragilis HSP40 in environmental samples.

A molecular test based on DNA amplification by PCR was developed for the detection of bacteriophages of Bacteroides fragilis strain HSP40 in the environment. These specific phages are associated with faecal contamination of human origin. A homologous DNA region of 1.5 kb, identified previously by hybridisation, was used to design primers for the detection of B. fragilis HSP40 phages. A nested-PCR procedure for the DNA amplification of those phages was developed. The sensitivity of the nested-PCR was between 10(-1) and 10(-2) PFU for purified HSP40 phage solutions, sewage and seawater samples, and between 1 and 10 PFU for river water samples. Specific amplification of HSP40 phages was observed when viral suspensions of 10(3) PFU/ml or lower were used. Common levels of B. fragilis phages found in sewage are 10(1)-10(2) PFU/ml. A total of 24 water samples (sewage, river water and seawater) were tested both by PCR and by plaque assay, to evaluate the efficiency of the molecular method in field samples. The data obtained by PCR in environmental samples showed good concordance with the PFU counts and a higher sensitivity.

Bacteriophages↗
PubMed2000

Postoperative pain management and recovery after remifentanil-based anaesthesia with isoflurane or propofol for major abdominal surgery. Remifentanil Study Group.

We have assessed if recovery times after morphine or fentanyl, given before terminating remifentanil anaesthesia with isoflurane or propofol, are compromised. We studied patients undergoing elective, major abdominal surgery, allocated randomly to receive remifentanil and isoflurane (n = 277) or remifentanil and propofol (n = 274) anaesthesia. Twenty-five minutes before the end of surgery, patients received fentanyl 0.15 mg or morphine 15 mg in a randomized, double-blind manner followed by a second dose (fentanyl 0.05 mg, morphine 7 mg) for moderate or severe pain in recovery. Recovery was rapid and at an Aldrete score > or = 9 (median 12-15 min), 42-51% of patients reported none or mild pain. However, 26-35% of patients reported severe pain and > 90% required a second dose of opioid within 21-27 min after anaesthesia.

Abdomen↗
PubMed2000

[Severe abdominal complications in patients treated with heart transplantation: the problem of clinical inexpressiveness].

INTRODUCTION: In transplanted patients, immunosuppressive drugs can mask habitual pathologies that impede their diagnoses and management. Abdominal pathology gives up to 2-20%, 50% of which is surgical, with a mortality of 10-40%. The most frequently detected pathologies are: acute pancreatitis, peptic ulceration and intestinal obstruction. OBJECTIVES: To determine the alarm parameters, more adequate diagnostic procedures and the most frequent causes of morbidity and mortality in order to attempt to avoid them. METHODS: In our center 225 heart transplantations were performed from May 1984 to October 1997. The severe abdominal complications, time of appearance, implication of immunosuppressive drugs and presence of rejection were studied in these patients. RESULTS: 35 severe abdominal complications were detected (incidence 12.9%), with the majority differing (> 1 year following transplant). The most frequently detected pathologies were digestive hemorrhages and perforations. Acute pancreatitis was 11%. The immunosuppressive drugs used were prednisona, cyclosporin and azathioprine. In 12 out of 29 patients the abdominal complication was in the context of acute rejection. CONCLUSIONS: Even with some non-specific abdominal symptoms in these group of patients it is important to rule out severe pathologies such as acute pancreatitis or empty viscera perforation. The detection of amylases and lypases in the blood and an echographic or tomographic abdominal study should be performed early with a digestive hemorrhage it is important to perform an endoscopy. If the surgical intervention seems imminent it's better to perform it without any delay, because it has been demonstrated that the delay is worse than the probable rejection.

Adolescent↗
PubMed1999

Chlorambucil-induced inappropriate antidiuresis in a man with chronic lymphocytic leukemia.

The syndrome of inappropriate antidiuretic hormone (SIADH) has been described in patients suffering from leukemia or lymphoma involving the central nervous system. Several alkylating agents have also been associated with this syndrome. We describe a patient with chronic lymphocytic leukemia, without evidence of central nervous system involvement, who suffered from SIADH presumably caused by small doses of chlorambucil.

Antineoplastic Agents, Alkylating↗
PubMed1998

Efficacy of augmented immunosuppressive therapy for early vasculopathy in heart transplantation.

OBJECTIVES: The present study was undertaken to prospectively and comparatively evaluate the role of serial myocardial perfusion imaging and coronary angiography for the detection of early vasculopathy in a large patient population and also to determine the short- and long-term efficacy of augmented immunosuppressive therapy in the potential reversal of the early vasculopathy. BACKGROUND: Allograft vasculopathy is the commonest cause of death after the first year of heart transplantation. Anecdotal studies have reported the efficacy of augmented immunosuppressive therapy after early detection of vascular involvement. However, no prospective study has evaluated the feasibility of early detection and treatment of allograft vasculopathy. METHODS: In 76 cardiac allograft recipients, 230 coronary angiographic and 376 scintigraphic studies were performed in a follow-up period of 8 years. Angiography was performed at 1 month and every year after transplantation, and thallium-201 scintigraphy at 1, 3, 6 and 12 months after transplantation and twice a year thereafter. Prospective follow-up of 76 patients showed that 18 developed either angiographic or scintigraphic evidence of coronary vasculopathy. All episodes were treated with 3-day methylprednisolone pulse and antithymocyte globulin. RESULTS: Twenty-two episodes of vasculopathy were diagnosed and treated in these 18 patients. Of these 22 episodes, two were detected only by angiography, seven by both angiography and scintigraphy, four by scintigraphy and histologic evidence of vasculitis and nine episodes only by thallium-201 scintigraphy studies. Angiographic and/or scintigraphic resolution was observed in 15 of the 22 episodes (68%) with augmented immunosuppression. The likelihood of regression was higher when treatment was instituted within the first year of transplantation (92%) than after the first year (40%) (p = 0.033). Eighty percent of patients who responded to follow-up. CONCLUSIONS: The present study suggests that early detection of allograft coronary vasculopathy is feasible with surveillance myocardial perfusion or coronary angiographic studies. When identified early after transplantation, immunosuppressive treatment may result in regression of coronary disease.

Adult↗
PubMed1998

Viral pollution in the environment and in shellfish: human adenovirus detection by PCR as an index of human viruses.

A study of the presence of human viruses (adenoviruses, enteroviruses, and hepatitis A viruses [HAVs]) in environmental and shellfish samples was carried out by applying DNA and cDNA amplification techniques by PCR. The detection of human adenoviruses by PCR was also examined as a potential molecular test to monitor viral pollution. The samples studied were urban and slaughterhouse sewage, river water, seawater, and shellfish. Enteroviruses were quantified by PFU in Buffalo green monkey kidney cells and fecal coliforms and phages of Bacteroides fragilis HSP40 were also evaluated in some of the samples. The amplification of viral DNA and cDNA has shown a high prevalence of human viruses that would not be detected by the use of classical techniques, such as the quantification of PFU in cell lines. The results of the analysis of slaughterhouse sewage samples together with the test of farm animal feces indicate that the adenoviruses and the HAVs detected in the environment are mostly of human origin. A significative correlation between the detection of human viruses by PCR and the values of bacteriophages of B. fragilis HSP40 in urban raw sewage was observed. Human adenoviruses were the viruses most frequently detected throughout the year, and all the samples that were positive for enteroviruses or HAVs were also positive for human adenoviruses. The results suggest that the detection of adenoviruses by PCR could be used as an index of the presence of human viruses in the environment where a molecular index is acceptable.

Abattoirs↗
PubMed1997

Molecular basis of antimicrobial resistance in non-typable Haemophilus influenzae.

Strains of the facultative anaerobe Haemophilus influenzae, both type b and non typable strains, are frequently multiresistant. The measurement of the antibiotic permeability of Haemophilus influenzae outer membrane (OM) shows that antibiotics can cross through the OM easily. Thus, enzymatic activity or efflux pumps could be responsible for multiresistance. An efflux system closely related to AcrAB of Escherichia coli is present in Haemophilus influenzae. However, their role in multiresistance seems irrelevant. Classical mechanisms such as plasmid exchange seems to be playing a major role in the multidrug resistance in Haemophilus influenzae.

Anti-Bacterial Agents↗