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1.
Rev. clín. esp. (Ed. impr.) ; 222(3): 161-168, mar. 2022. tab
Article in Spanish | IBECS | ID: ibc-204636

ABSTRACT

Antecedentes y objetivo: La amiloidosis por transtiretina (ATTR) es una enfermedad rara que forma parte de las amiloidosis sistémicas, y es una enfermedad amenazante para la vida. Puede afectar a todos los órganos y sistemas, siendo la más frecuente la afectación neurológica y cardíaca. El objetivo de este estudio es detectar posibles casos de ATTR y realizar un estudio descriptivo de los mismos. Material y métodos: Estudio descriptivo unicéntrico realizado en un hospital de tercer nivel en el que se incluyen pacientes con sospecha de ATTR entre septiembre de 2016 y enero de 2020. Resultados: Se detectan 190 pacientes sospechosos de ATTR. En el estudio se incluyen 100 de ellos, así como 10 familiares de pacientes en los que se detecta ATTR en su variante genética. En total, se detecta ATTR variante genética en 7 individuos (3 con mutación presintomática de la enfermedad), 16 pacientes con ATTR asociada a la edad y 31 individuos con amiloidosis cardíaca no filiada con las pruebas realizadas, lo que confirma la presencia de esta enfermedad en áreas no endémicas. Conclusiones: La ATTR es una enfermedad que se ha de tener en cuenta en el diagnóstico diferencial de pacientes que presentan insuficiencia cardíaca con FEVI preservada, principalmente si se asocia a síntomas neurológicos (AU)


Background and objective: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. Material and methods: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. Results: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. Conclusions: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Amyloidosis, Familial/diagnosis , Amyloidosis, Familial/metabolism , Prealbumin/metabolism , Tertiary Healthcare , Retrospective Studies , Diagnosis, Differential
2.
Rev Clin Esp (Barc) ; 222(3): 161-168, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34563487

ABSTRACT

BACKGROUND AND OBJECTIVE: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. MATERIAL AND METHODS: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. RESULTS: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. CONCLUSIONS: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms.


Subject(s)
Amyloid Neuropathies, Familial , Prealbumin , Amyloid Neuropathies, Familial/complications , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Humans , Prealbumin/genetics , Referral and Consultation , Tertiary Care Centers
3.
Rev. clín. esp. (Ed. impr.) ; 219(3): 141-144, abr. 2019. ilus
Article in Spanish | IBECS | ID: ibc-186447

ABSTRACT

Antecedente y objetivo: Existen 2 tipos de amiloidosis producidas por depósitos de transtiretina, el tipo salvaje (wt-ATTR) y el tipo mutante (m-ATTR), transmitido por herencia autosómica dominante con penetrancia variable, manifestándose con clínica neurológica y/o cardíaca. Describimos 3 familias afectadas por m-ATTR diagnosticadas en un área no endémica. Material y métodos: Se estudiaron 63 pacientes con alta sospecha de amiloidosis TTR. Posteriormente, el diagnóstico se realizó por amplificación mediante PCR de ADN y en los casos positivos se estudiaron a los familiares de primer grado. Resultados: Se detectaron 7 casos positivos para m-ATTR, distribuidos en 3 familias (Glu74Gln, Val142Ile en heterocigosis y Val142Ile en homocigosis) y 3 casos de variantes no patogénicas. Conclusiones: La amiloidosis hereditaria por TTR es una enfermedad rara, pero presente en áreas no endémicas, por lo que debe tenerse en cuenta en el diagnóstico diferencial de los pacientes con polineuropatía y/o insuficiencia cardiaca con fracción de eyección preservada


Background and objective: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. Material and methods: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. Results: We detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. Conclusions: Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged, 80 and over , Amyloidosis/diagnosis , Prealbumin , Amyloid Neuropathies, Familial/diagnosis , Cardiomyopathies/diagnosis , Heart Failure/diagnosis , Diagnosis, Differential , Genetic Heterogeneity , Carpal Tunnel Syndrome/complications
4.
Rev Clin Esp (Barc) ; 219(3): 141-144, 2019 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-30390992

ABSTRACT

BACKGROUND AND OBJECTIVE: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. MATERIAL AND METHODS: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. RESULTS: We detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. CONCLUSIONS: Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction.

5.
Article in English | MEDLINE | ID: mdl-25660718

ABSTRACT

Although mercury (Hg) is an important environmental and occupational pollutant, its toxicological effects, especially in serum and red blood cells (RBCs), have been scarcely studied. A toxicometabolomics workflow based on high resolution mass spectrometry approaches has been applied to investigate the toxicological effects of Hg in Mus musculus mice after subcutaneous injection for 10 days, which produced inflammation and vacuolization, steatosis and karyolysis in the hepatic tissue. To this end, direct infusion mass spectrometry (DIMS) of polar and lipophilic extracts from serum and RBCs, using positive and negative mode of acquisition (ESI+/ESI-), and gas chromatography-mass spectrometry were used. A quantitative analysis of reversible oxidized thiols in serum proteins demonstrated a strong oxidative stress induction in the liver of Hg-exposed mice. Endogenous metabolites alterations were identified by partial least squares-discriminant analysis (PLS-DA). Mercury-exposed mice show perturbations in energy metabolism, amino acid metabolism, membrane phospholipid breakdown and oxidative stress-related metabolites in serum along the exposure. This work reports for the first time the effects of Hg-exposure on RBCs metabolic pathways, and reveals disturbances in glycolysis, membrane turnover, glutathione and ascorbate metabolisms.


Subject(s)
Erythrocytes/drug effects , Gas Chromatography-Mass Spectrometry/methods , Mercury/toxicity , Metabolome/drug effects , Metabolomics/methods , Animals , Linear Models , Liver/chemistry , Liver/drug effects , Liver/pathology , Mice , Mice, Inbred BALB C , Toxicity Tests
6.
Environ Sci Technol ; 48(14): 7747-55, 2014 Jul 15.
Article in English | MEDLINE | ID: mdl-24922451

ABSTRACT

Monitoring organism exposure to heavy metals has acquired increased importance in the last decades. The mouse Mus spretus has been used to assess the biological response to contaminants in the relevant ecological area of Doñana National Park (DNP) and surrounding areas (SW Spain), where many migrating birds land for breeding and feeding every year. A metallomics approach, based on the characterization of metal biomolecules using size exclusion chromatography coupled with inductively coupled plasma-mass spectrometry (SEC-ICP-MS) and a metabolomics approach based on direct infusion to a mass spectrometer (DI-ESI-QTOF-MS) followed by a partial linear square-discriminant analysis (PLS-DA), were used to compare the biological responses of M. spretus living in three areas of DNP (the reference) and surrounding areas (El Partido and El Matochal). The activities of key antioxidant enzymes, such as Cu/Zn-SOD, Mn-SOD, CAT, GR, and guaiacol peroxidase, were also determined in connection with environmental contamination issues. The results show differences caused by the presence of metals in the ecosystem that affected to the levels of metals and metalloproteins, such as MT, Cu/Zn-SOD, or Mn-CA, the breakdown of membrane phospholipids, perturbations in metabolic pathways, related to energy metabolism, and oxidative stress.


Subject(s)
Environmental Monitoring , Environmental Pollution/analysis , Metabolomics , Metals/analysis , Animals , Antioxidants/metabolism , Cell-Free System , Chromatography, Gel , Discriminant Analysis , Kidney/enzymology , Least-Squares Analysis , Liver/metabolism , Mice , Oxidation-Reduction , Spain , Spectrometry, Mass, Electrospray Ionization , Spectrophotometry, Atomic , Tissue Extracts
7.
Biometals ; 26(4): 639-50, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23793301

ABSTRACT

Characterization of Cd-binding proteins has great analytical interest due to the high toxicity of Cd to living organisms. Metallothioneins (MTs), as Cd(II)-binding proteins are of increasing interest, since they form very stable Cd chelates and are involved in many detoxification processes. In this work, inductively coupled plasma octopole reaction cell mass spectrometry and nanospray ionization time-of-flight mass spectrometry were used in parallel and combined with two-dimensional chromatography: size exclusion followed by reversed-phase high performance liquid chromatography, to study metal complexes of MT isoforms produced in hepatic cytosols of Mus musculus during exposure experiments to Cd. Exposure experiments were carried out by subcutaneous injection of a growing dose of the toxic element ranging from 0.1 to 1.0 mg of Cd per kg of body weight per day during 10 days. A control group and three exposure groups at days 2, 6 and 10 of exposure were studied, and different cadmium, copper and zinc complexes with MTs isoforms were isolated and characterized from the two most exposed groups. The results allow gaining insight into the mechanisms involved in metal detoxification by MTs, showing the changes in the stoichiometry of metal complexes-MTs along cadmium exposure.


Subject(s)
Cadmium/toxicity , Hepatocytes/metabolism , Metallothionein/metabolism , Protein Isoforms/metabolism , Animals , Cadmium/metabolism , Hepatocytes/drug effects , Mice , Mice, Inbred BALB C
8.
Allergy ; 68(7): 853-61, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23647576

ABSTRACT

BACKGROUND: Desensitization to antineoplastic agents is becoming a standard of care. Efforts to establish and improve these techniques are being made at many institutions. Our aims are to evaluate a new rapid desensitization protocol designed to be shorter (approximately 4 h) and safer (reducing hazardous drugs exposure risks) and to assess the oxaliplatin-specific immunoglobulin E (IgE) as a novel diagnostic tool. METHODS: Prospective, observational, longitudinal study with patients who, for a 1-year period, suffered reactions to antineoplastic agents and were referred to the Desensitization Program at Ramon y Cajal University Hospital (RCUH). Patients were included or excluded as desensitization candidates after anamnesis, skin testing, risk assessment, and graded challenge. Specific IgE was determined in oxaliplatin-reactive patients. Candidate patients were desensitized using the new RCUH rapid desensitization protocol. RESULTS: Of 189 intravenous rapid desensitizations, 188 were successfully accomplished in the 23 patients who met inclusion criteria for desensitization (of 58 referred patients). No breakthrough reactions occurred in 94% of desensitizations, and most breakthrough reactions were mild. In 10 oxaliplatin-reactive patients, 38 desensitizations were successfully accomplished. Sensitivity for oxaliplatin-specific IgE was 38% (0.35UI/l cutoff point) and 54% (0.10UI/l cutoff point); specificity was 100% for both cutoff points. CONCLUSIONS: In the hands of a Desensitization Program, managed by drug desensitization experts, this new protocol has proven an effective therapeutic tool for hypersensitivity to several antineoplastic agents (oxaliplatin, carboplatin, paclitaxel, docetaxel, cyclophosphamide, and rituximab); moreover, it improves safety handling of hazardous drugs. We report the first large series of oxaliplatin desensitizations. Oxaliplatin-specific IgE determination could be helpful.


Subject(s)
Antineoplastic Agents/adverse effects , Desensitization, Immunologic/methods , Drug Hypersensitivity/immunology , Immunoglobulin E/immunology , Aged , Antineoplastic Agents/immunology , Antineoplastic Agents/therapeutic use , Cohort Studies , Dose-Response Relationship, Drug , Drug Hypersensitivity/prevention & control , Female , Humans , Infusions, Intravenous , Male , Middle Aged , Organoplatinum Compounds/adverse effects , Organoplatinum Compounds/immunology , Organoplatinum Compounds/therapeutic use , Prospective Studies , Pyridines/adverse effects , Pyridines/immunology , Pyridines/therapeutic use , Sensitivity and Specificity , Skin Tests/methods , Treatment Outcome
9.
Anal Bioanal Chem ; 404(6-7): 1967-81, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23053170

ABSTRACT

A metallomic approach based on the use of size-exclusion chromatography (Superdex-75) with inductively coupled plasma mass spectrometry (ICP-MS) detection is combined with anion or cation exchange chromatography to characterize the biological response of the free-living mouse Mus spretus. The approach has been applied to contaminated and non-contaminated areas from Doñana National Park (southwest Spain) and the surroundings. Several areas affected by differential contamination from mining, industrial, and agricultural activities have been considered. The high presence of Mn, Cu, and Zn in liver and As and Cd in kidney is remarkable, especially in contaminated areas. The size exclusion chromatograms traced by Mn in liver cytosolic extracts are more intense than in kidney; a Mn-peak matching with the standard of 32 kDa (superoxide dismutase) is present in these organs, and its intensity is correlated with the concentration of Mn in the extracts. High-intensity peaks traced by Cu, Zn, and Cd at 7 kDa (matching with metallothionein I standard) in liver extract are triggered by the presence of contaminants. Other peaks related with molecules of 32 and 67 kDa traced by Cu and Zn can also be observed, although their intensity is higher in sites with low contamination. In kidney extracts, the presence of a Cd-peak with Mr of 7 kDa (tentatively Cd-metallothionein) with high intensity under the action of contaminants was observed, but high biological responses are also proven in the protected area of the Park, which denotes a progressive increase of diffuse contamination.


Subject(s)
Animals, Wild/metabolism , Chromatography, Gel/methods , Environmental Exposure , Mass Spectrometry/methods , Metals/analysis , Mice/metabolism , Animals , Brain/metabolism , Brain Chemistry , Environmental Monitoring , Kidney/chemistry , Kidney/metabolism , Liver/chemistry , Liver/metabolism , Male , Metals/metabolism , Spain
12.
Nefrología (Madr.) ; 30(2): 195-201, mar.-abr. 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-104530

ABSTRACT

Antecedentes: La diálisis peritoneal (DP) se utiliza poco en nuestro medio. Objetivo: Analizar los factores psicológicos implicados en la elección del tratamiento sustitutivo renal (TSR).Material y métodos: Estudio observacional prospectivo de los enfermos estables y sin déficit cognitivo o sensorial que recibieron información del TSR entre enero de 2004 y julio de 2006y que aceptaron participar. Se les entregaron para su cumplimentación el inventario de depresión de Beck y el cuestionario de personalidad de Eysenck, y se recogieron datos sociodemográficos, clínicos y el TSR elegido. El final del seguimiento fue el 31 de octubre de 2007. Resultados: Se estudiaron 44 pacientes: edad, 65,4 ± 13,1 años; 48% hombres; 34% diabéticos. Un36% tenían síntomas depresivos. Ni éstos ni los rasgos de personalidad se relacionaron con la elección de la técnica. Eligieron DP (41%) los enfermos más jóvenes. Un 70% de los enfermos iniciaron TSR (68% hemodiálisis [HD], 32% DP) a los 8 ± 8 meses. Ninguno de los pacientes que eligieron HD cambió de opinión, pero tres de los 13 pacientes (23%) que habían elegido DP realizaron finalmente HD, en general en el contexto de agudizaciones . La mitad de los pacientes con síntomas depresivos y un tercio de los pacientes con mayores niveles de neuroticismo cambiaron su decisión inicial y optaron finalmente por la HD. Conclusiones: La prevalencia de síntomas depresivos en el momento de elegir TSR es elevada. Ni los síntomas depresivos ni los rasgos de personalidad influyeron en el TSR inicialmente elegido, aunque pueden ser factores implicados en los cambios de decisión posteriores(AU)


Background: Peritoneal dialysis (PD) is not frequently used in our setting. Objective: To analyze the psychological factors involved in the choice of renal replacement therapy (RRT).Material and methods: Prospective observational study of stable patients without cognitive or sensory deficits, who were informed about RRT from January 2004 to July 2006, and agreed to participate. The Beck Depression Inventory and the Eysenck personality questionnaire were administered. Clinical and sociodemographic data, and RRT choice were recorded. End of follow-up: 2007/10/31. Results: We studied 44 patients: age, 65.4 ± 13.1 years, 48% male, 34% diabetic. When choosing RRT, 36% of patients had depressive symptoms. Neither depressive symptoms nor personality traits were related to the choice of the dialysis type. Patients who chose PD (41%) were younger. After a mean follow-up of 8 ± 8 months, 70% of patients started RRT (68% hemodialysis [HD], 32% PD). None of the patients who chose HD changed their mind, but 3 of the 13 patients (23%) who chose PD finally commenced HD, usually in the context of disease exacerbations. Half of the patients with depressive symptoms when choosing PD, and at hird of the patients with higher levels of neuroticism changed their decision and finally opted for HD. Conclusions: When choosing RRT, the prevalence of depressive symptoms is high. Neither depression nor personality traits influenced the initial choice of RRT, but these factors may be involved in subsequent changes of the initial choice (AU)


Subject(s)
Humans , Renal Insufficiency, Chronic/therapy , Renal Replacement Therapy , Renal Dialysis/psychology , Peritoneal Dialysis/psychology , Depression/psychology , Decision Making
13.
J Am Chem Soc ; 130(49): 16601-10, 2008 Dec 10.
Article in English | MEDLINE | ID: mdl-19554730

ABSTRACT

ZnO is a metal oxide material which possesses versatile properties and applications. Therefore, the target-oriented preparation of ZnO has become a major issue. Many preparation techniques involve bottom-up methods from precursor solutions. In the current contribution, a special precursor system is described that enables a fine-control of kinetic parameters for the nucleation and growth of ZnO in various organic solvents. A large variety of analytical techniques could be applied in an in situ fashion to probe for the ZnO formation at all times and all length scales. Among the analytical techniques are UV/vis, Raman, Fluorescence, X-ray absorption, 1H NMR-spectroscopy, dynamic light-scattering, and TEM. Three different regimes for nucleation and growth with different characteristics could be identified. Furthermore, the effect of different parameters on the resulting ZnO particle size was investigated.

14.
Anal Bioanal Chem ; 390(1): 17-28, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17994227

ABSTRACT

Mus musculus mice have been investigated for the total elements content in different organs (lung, liver, spleen, kidney, brain, testicle, heart and muscle) and molecular mass distribution patterns of Mn, Ni, Cu, Zn, As, Pb, Cr, Fe, Co, Se and Cd. Some differences have been found in the organs studied, with especially relevant being the Cu-containing fraction present only in the brain and the As-containing one in the liver. Other differences related to the abundance of the metallospecies have also been found. The present paper is the first step in the study of the "metallome" of this inbred laboratory species from which the genome is completely known. This organism could be used as a model in future studies focused on wild mice and the analytical approach developed could be applied to wild mice to find markers of environmental pollution. [figure: see text] The present paper is the first step in the study of the "metallome" of the inbred laboratory specie Mus musculus from which the genome is completely known. Some interesting differences have been found in the extracts from the organs that are discussed along the text.


Subject(s)
Chromatography, Gel/methods , Mass Spectrometry/methods , Metals, Heavy/analysis , Metals, Heavy/chemistry , Spectrum Analysis/methods , Ultraviolet Rays , Animals , Metals, Heavy/metabolism , Mice , Mice, Inbred BALB C , Molecular Weight , Organ Specificity
15.
Cir Pediatr ; 19(1): 39-45, 2006 Jan.
Article in Spanish | MEDLINE | ID: mdl-16671511

ABSTRACT

INTRODUCTION: Treatment of esophageal atresia with "long gap" remains difficult and controversial. According to the idea that esophageal anastomosis is imposible in most cases, several esophageal substitution methods have been proposed, as esophagocoloplasty, gastric transposition or reversed gastric tube. Nevertheless reconstruction of native esophagus is accepted as the best option if posible. "Long gap" definition is imprecise, expressed by variability in percent of these cases in total esophageal atresias reported in different series in literature. We report our experience in seven cases type I esophageal atresia with long gap and the different therapeutic options used, with attention to delayed or early esophageal anastomosis feasibility and outcome. MATERIAL AND METHODS: We have treated 121 patients with esophageal atresia from whom we analized 7 cases with pure esophageal atresia with "long gap" (5.8%). Six patients underwent gastrostomy and two gastrostomy and esophagostomy. Five patient underwent primary repair with esophageal anastomosis, delayed between 14 days and 4 months in 4 cases. One patient underwent esophageal anastomosis in the first day without gastrostomy. Retroesternal esophagocoloplasty was performed in 2 patients about their first year of life. Esophagogram was done in first month after surgery and pH monitoring of gastroesophageal reflux. Follow-up ranged from 6 months to 28 years. RESULTS: Esophageal anastomosis was feasible in all 5 patients in whom it was tried. Stricture occurred in two patients, one patient underwent anastomotic resection and new esophageal anastomosis. Esophageal reflux was present in two patients, one of them required funduplication. One patient was dead by complications of cardiac malformation. Remaining patients have normal swallowing and are in normal growth curves. Patients with esophagocoloplasty had not relevant early or late complications. CONCLUSIONS: In most pure esophageal atresia, delayed or even early esophageal anastomosis is feasible, making use of surgical and anesthesic sources that favour it. Esophageal substitution techniques can be reserved if this approach fails.


Subject(s)
Esophageal Atresia/classification , Esophageal Atresia/surgery , Plastic Surgery Procedures/methods , Stomach/surgery , Anastomosis, Surgical , Female , Gastrostomy , Humans , Infant, Newborn , Male , Postoperative Care , Preoperative Care
16.
Cir. pediátr ; 19(1): 39-45, ene. 2006. ilus, tab
Article in Es | IBECS | ID: ibc-043620

ABSTRACT

Introducción. El tratamiento de la atresia de esófago con gran distancia entre bolsones (long gap) sigue siendo difícil y controvertido. Se han utilizado diversos métodos de sustitución esofágica considerando que en muchos casos la anastomosis esofágica es imposible. Sin embargo se acepta que la conservación del propio esófago es la mejor opción si es posible. La definición de long gap es imprecisa, como lo demuestra el variable porcentaje que representan estos casos en las distintas series de la literatura. Revisamos 7 casos de atresia de esófago tipo I con long gap y las diversas opciones terapéuticas que se utilizaron, analizando la posibilidad y evolución de una anastomosis esofágica diferida o precoz. Material y métodos. Se analizan 7 casos de atresia de esófago tipo I de un total de 121 casos de atresia de esófago (5,8%). En 6 pacientes se realizó gastrostomía y se añadió esofagostomía en 2 de ellos. En cinco pacientes se realizó anastomosis esofágica primaria, diferida en 4 casos entre 14 días y 4 meses de vida. En un paciente se realizó anastomosis esofágica primaria en el primer día de vida, sin gastrostomía. En dos pacientes se realizó esofagocoloplastia al final del primer año de vida. Se realizó tránsito esofágico en el primer mes postoperatorio y control del reflujo gastroesofágico (RGE) con pHmetría. El período de seguimiento oscila entre 6 meses y 28 años. Resultados. La anastomosis esofágica terminoterminal fue quirúrgicamente posible en los 5 pacientes en los que se intentó. En dos pacientes se produjo una estenosis, requiriendo uno de ellos reintervención con nueva anastomosis. Dos pacientes presentaron RGE, realizándose en uno de ellos funduplicatura gastroesofágica. Un paciente falleció a consecuencia de su malformación cardíaca. Los demás pacientes presentan buen desarrollo ponderoestatural con una deglución normal. Los dos pacientes tratados mediante esofagocoloplastia no presentaron complicaciones graves precoces o tardías. Conclusiones. En la mayoría de las atresias de esófago tipo I es factible la anastomosis esofágica terminoterminal, de forma diferida o precoz, utilizando los recursos quirúrgicos y anestésicos que permiten su realización. Las técnicas de sustitución esofágica pueden quedar reservadas en caso de que fracase esta estrategia (AU)


Introduction. Treatment of esophageal atresia with «long gap» remains difficult and controversial. According to the idea that esophageal anastomosis is imposible in most cases, several esophageal substitution methods have been proposed, as esophagocoloplasty, gastric transposition or reversed gastric tube. Nevertheless reconstruction of native esophagus is accepted as the best option if posible. «Long gap» definition is imprecise, expressed by variability in percent of these cases in total esophageal atresias reported in different series in literature. We report our experience in seven cases type I esophageal atresia with long gap and the different therapeutic options used, with attention to delayed or early esophageal anastomosis feasibility and outcome. Material and methods. We have treated 121 patients with esophageal atresia from whom we analized 7 cases with pure esophageal atresia with «long gap» (5.8%). Six patients underwent gastrostomy and two gastrostomy and esophagostomy. Five patient underwent primary repair with esophageal anastomosis, delayed between 14 days and 4 months in 4 cases. One patient underwent esophageal anastomosis in the first day without gastrostomy. Retroesternal esophagocoloplasty was performed in 2 patients about their first year of life. Esophagogram was done in first month after surgery and ph monitoring of gastroesophageal reflux. Follow-up ranged from 6 months to (..) (AU)


Subject(s)
Male , Female , Infant, Newborn , Humans , Esophageal Atresia/classification , Esophageal Atresia/surgery , Anastomosis, Surgical , Follow-Up Studies , Esophagoscopy , Reoperation , Treatment Outcome
17.
EDTNA ERCA J ; 30(1): 27-30, 2004.
Article in English | MEDLINE | ID: mdl-15163031

ABSTRACT

This paper focuses on the dynamics of a workgroup in a nephrology and haemodialysis unit. Teamwork is indispensable in nephrology units, as it provides support and help to professionals but working closely together may also cause conflict and great strain. This study describes how much and in what way the anxiety and the relationship between these professionals influences their work, depending on skills and personal preferences among the staff. A questionnaire was used to analyse the following issues: stress, changes, routine, confrontation, comparisons, preferences, support, valuation, assertiveness, self-evaluation, technical competence, affiliation, motivation, work atmosphere and training.


Subject(s)
Attitude of Health Personnel , Hemodialysis Units, Hospital , Interprofessional Relations , Nursing Staff, Hospital/psychology , Adaptation, Psychological , Assertiveness , Burnout, Professional/etiology , Burnout, Professional/prevention & control , Burnout, Professional/psychology , Conflict, Psychological , Cooperative Behavior , Cross-Sectional Studies , Group Processes , Hemodialysis Units, Hospital/organization & administration , Humans , Needs Assessment , Nursing Methodology Research , Nursing Staff, Hospital/education , Nursing Staff, Hospital/organization & administration , Occupational Health , Organizational Culture , Organizational Innovation , Social Identification , Social Support , Spain , Surveys and Questionnaires , Workplace/organization & administration , Workplace/psychology
18.
J Hum Hypertens ; 17(2): 107-10, 2003 Feb.
Article in English | MEDLINE | ID: mdl-12574788

ABSTRACT

Numerous phosphocalcium alterations associated with bone mineral density in hypertension have been described, but very few studies assess them. This study assesses bone mass in hypertensive postmenopausal women and the hypertension influence determining both calcium homeostasis and bone turnover markers. Blood and urine samples were analysed for calcium metabolism-related parameters. Densitometry studies were conducted in the lumbar spine (L2-L4). Hypertensive osteoporotic women--selected from 82 women, with 22% osteoporosis prevalence, similar to the rate for the same age in the Spanish population--had significantly higher levels of body mass index (29+/-4 vs 26+/-4, P=0.019), calciuria (293+/-146 vs 210+/-116 mg/24 h, P=0.023) and calcium/creatinine ratio (0.33+/-0.2 vs 0.22+/-0.1 P=0.003) vs hypertensive nonosteoporotic women. No relation was found between systolic and diastolic blood pressure with bone mass. However, there was a negative osteocalcin correlation (r=-0.386, P=0.0001, and r=-0.242, P=0.033). Calciuria is associated with bone mass decrease in hypertensive women, and there is no relation between bone mass and blood pressure.


Subject(s)
Bone Density/physiology , Bone Remodeling/physiology , Calcium Metabolism Disorders/etiology , Calcium Metabolism Disorders/metabolism , Hypertension/complications , Hypertension/metabolism , Osteoporosis, Postmenopausal/etiology , Osteoporosis, Postmenopausal/metabolism , Postmenopause/metabolism , Adult , Age Factors , Aged , Body Mass Index , Calcium/blood , Calcium/urine , Female , Humans , Middle Aged , Severity of Illness Index , Sex Factors
19.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 37(6): 298-303, nov. 2002. tab
Article in ES | IBECS | ID: ibc-19215

ABSTRACT

OBJETIVO: Presentar los resultados de la primera prueba piloto de evaluación clínica objetiva y estructurada (ECOE) para evaluar los conocimientos y habilidades en geriatría desarrollada por la Sociedad Catalano-Balear de Geriatría y Gerontología (SCBGG) .MATERIAL Y MÉTODOS: Expertos de la SCBGG, con el asesoramiento técnico del Institut d'Estudis de la Salut (IES), diseñaron la prueba que consistió en un circuito de 22 situaciones clínicas paradigmáticas de la especialidad y en las que se utilizaron diversos instrumentos evaluativos. Participaron voluntariamente 38 médicos invitados por la SCBGG, que al finalizarla cumplimentaron un cuestionario de opinión a propósito de la misma. Para el análisis de los datos se utilizó el programa estadístico SPSS/PC+ para Windows. RESULTADOS: La puntuación media (desviación estándar [DE]) en la edición de 2000 fue de 52,6 (5,8) y en la de 2001, de 49,1 (8,6). El estadístico alfa de Cronbach (coeficiente global de fiabilidad) fue de 0,71 en la primera y de 0,84 en la segunda. En 2001 se realizó el análisis de resultados según la formación de los participantes, y obtuvieron mejores resultados aquellos formados por vía MIR. La opinión de los participantes en las dos ediciones fue muy positiva. CONCLUSIONES: La primera prueba ECOE en geriatría se presenta como un método evaluativo de la competencia profesional fiable, válido, factible y bien aceptado por los profesionales que han participado en ella (AU)


Subject(s)
Aged , Humans , Geriatric Assessment , Clinical Competence/standards , Physicians , Geriatrics/standards
20.
Mutat Res ; 497(1-2): 111-21, 2001 Oct 18.
Article in English | MEDLINE | ID: mdl-11525913

ABSTRACT

Here we demonstrate that the Ogt(ST) from Salmonella typhimurium is a highly efficient O(6)-alkylguanine-DNA alkyltransferase (AGT) in affording protection against antitumour chloroethylating drugs (1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) and 1-(2-chloroethyl)-3-cyclohexyl-1-nitrosourea (CCNU)). In addition, Ogt(ST) is refractory to O(6)-benzylguanine (BG) inactivation and its expression provides only minor sensitisation to genotoxicity by environmental dibromoalkanes (DBE). No other of the assayed bacterial or human AGTs displayed such advantageous properties for chemoprotective gene therapy strategy. Our observations indicate that the Ogt(ST) AGT might be, under some circumstances, of potential use to improve cancer chemotherapy. At least, its properties may provide further insight into the design of human AGT variants that could be expressed in normal or tumour cells to provide either protection or ablation.


Subject(s)
Guanine/analogs & derivatives , Mutagens/pharmacology , O(6)-Methylguanine-DNA Methyltransferase/genetics , O(6)-Methylguanine-DNA Methyltransferase/metabolism , Salmonella typhimurium/drug effects , Salmonella typhimurium/enzymology , Alkanes/pharmacology , Alkylating Agents/pharmacology , Amino Acid Sequence , Catalytic Domain/genetics , DNA Damage , Drug Resistance, Bacterial/genetics , Escherichia coli/drug effects , Escherichia coli/genetics , Ethylene Dibromide/pharmacology , Genes, Bacterial , Guanine/pharmacology , Humans , Molecular Sequence Data , Mutagenicity Tests , Salmonella typhimurium/genetics , Sequence Homology, Amino Acid
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