Activity and stability of bifunctional perovskite/carbon-based electrodes for the removal of antipyrine by electro-Fenton process.

Bifunctional perovskite/carbon-black(CB)/polytetrafluoroethylene(PTFE) electrodes for electro-generation and catalytic decomposition of hydrogen peroxide to oxidizing hydroxyl radicals have been fabricated. These electrodes were tested for electroFenton (EF) removal of antipyrine (ANT) as a model antipyretic and analgesic drug. The influence of the binder loading (20 and 40 wt % PTFE) and type of solvent (1,3-dipropanediol and water) was studied for the preparation of CB/PTFE electrodes. The electrode prepared with 20 wt % PTFE and water exhibited a low impedance and remarkable H2O2 electro-generation (about 1 g/L after 240 min, a production rate of ca. 6.5 mg/h·cm2). The incorporation of perovskite on CB/PTFE electrodes was also studied following two different methods: i) direct deposition on the CB/PTFE electrode surface and ii) addition in the own CB/PTFE/water paste used for the fabrication. Physicochemical and electrochemical characterization techniques were used for the electrode's characterization. The dispersion of perovskite particles in the own electrode matrix (method ii) exhibited a higher EF performance than the immobilisation onto the electrode surface (method i). EF experiments at 40 mA/cm2 and pH 7 (non-acidified conditions) showed ANT and TOC removals of 30% and 17%, respectively. The increase of current intensity up to 120 mA/cm2 achieved the complete removal of ANT and 92% of TOC mineralisation in 240 min. The bifunctional electrode also proved high stability and durability after 15 h of operation.

Tratamiento quirúrgico de la endometriosis pélvica profunda con compromiso colorrectal / Surgical treatment of deep pelvic endometriosis with colorectal involvement

INTRODUCCIÓN: En la endometriosis el compromiso intestinal afecta hasta al 12% de las pacientes, comprometiendo al recto y a la unión rectosigmoidea en el 90% de los casos. OBJETIVO: Describir la experiencia del equipo de Coloproctología y Ginecología de Clínica Alemana de Santiago en el tratamiento quirúrgico de la endometriosis pélvica profunda con compromiso colorrectal. MATERIAL Y MÉTODOS: Estudio retrospectivo a partir de la base de datos de pacientes con endometriosis tratados entre enero del año 2015 y abril de 2018. Los criterios de inclusión fueron pacientes con clínica de endometriosis pélvica profunda, que tuviesen compromiso colorrectal y hayan sido tratados con shaving rectal, resección discoide o resección segmentaria. Se revisaron fichas clínicas electrónicas, protocolos operatorios y biopsias definitivas. RESULTADOS: Se reclutaron 25 pacientes con una mediana de edad de 35 años. El síntoma principal de consulta fue dismenorrea y el síntoma digestivo más frecuente fue disquecia. En 8 pacientes se realizó un shaving rectal, en 7 una sigmoidectomía, en 9 una resección discoide y en 1 paciente una tiflectomía. La complicación posoperatoria reportada fue la hemorragia digestiva baja en 4 pacientes (Clavien-Dindo I y IIIa). Con una mediana de seguimiento de 13 meses, a la fecha 3 pacientes se les ha diagnosticado algún tipo de recidiva. CONCLUSIÓN: Es importante que la cirugía a realizar, garantice una morbilidad y recurrencia baja. Los resultados en nuestro centro son alentadores, lo que nos hace creer que el tratamiento quirúrgico podría ser una buena alternativa en la endometriosis pélvica profunda con compromiso colorrectal.

INTRODUCTION: In endometriosis, intestinal involvement affects up to 12% of patients, compromising the rectum and the rectosigmoid junction in 90% of cases. AIM: Describe the experience of the Coloproctolgy and Gynecology Team of the Clínica Alemana de Santiago in the surgical treatment of deep pelvic endometriosis with colorectal involvement. MATERIAL AND METHODS: Retrospective study based on the database of patients with endometriosis treated between January 2015 and April 2018. The inclusion criteria were patients with deep pelvic endometriosis clinic, who had colorectal involvement and who had been treated with rectal shaving, discoid resection or segmental resection. Electronic clinical records, operative protocols and definitive biopsies were reviewed. RESULTS: Twenty-five patients with a median age of 35 years were recruited. The main symptom of consultation was dysmenorrhoea and the most frequent digestive symptom was dyschezia. In 8 patients a rectal shaving was performed, in 7 a sigmoidectomy, in 9 a discoid resection and in 1 patient a tiflectomy. The only reported post-operative complication was low gastrointestinal bleeding in 4 of the 25 patients (Clavien-Dindo I and IIIa). A median follow-up of 13 months was achieved, to date 3 patients have been diagnosed with some type of recurrence. CONCLUSION: It is important that the surgery to be performed guarantees low morbidity and recurrence. The results in our center are encouraging, which makes us believe that surgical treatment could be a good alternative in deep pelvic endometriosis with colorectal involvement.

North African-Mediterranean HLA genetic contribution in a population of the kidney transplant waiting list patients of Canary origin (Gran Canaria).

The peopling of the Canary Islands has been widely debated. The mitochondrial DNA and Y-chromosome data support the idea of a Berber genetic origin coming from the North of Africa (maternal) and a later contribution of the Spanish invaders (paternal). The frequencies of the HLA class II alleles from the Tenerife Island (another Canary Island) have previously been published, postulating a Berber and Atlantic/Iberian contributions to the current population. The HLA class I and class II allele frequencies, haplotype frequencies and phylogenetic comparisons were performed in 215 unrelated individuals from Gran Canaria Island (belonging to the kidney transplant waiting list), with at least three generations of ancestors from Canary Islands, in order to study the different ethnical HLA contributions to the genetic background of the Canary Islanders. Results showed the presence of a compound HLA haplotype of putative Phoenician-Berber origin, A*33:01-C*08:02-B*14:02-DRB1*03:01-DQB1*02:01, likely coming from the combination of haplotypes A*30:02-C*05:01-B*18:01-DRB1*03:01-DQB1*02:01 and A*33:01-C*08:02-B*14:02-DRB1*01:02-DQB1*05:01 of North African (probably Berber) and West Asian Mediterranean (probably Phoenician) origins, respectively. The latter haplotypes and others from the same origin (Berber/Phoenician) are also present in the population studied. Besides, other contributions from the North of Europe, North England-Iberian (Atlantic contribution), and Western Europe/Mediterraneans (Spanish colonization) are also discussed. These data conclude that the current genetic background of the Canary Islands inhabitants has been generated over the years by different ways with an original Phoenician-Berber substrate and several genetic contributions generated in different invasions.

Epigenetics as a mechanism linking developmental exposures to long-term toxicity.

A variety of experimental and epidemiological studies lend support to the Developmental Origin of Health and Disease (DOHaD) concept. Yet, the actual mechanisms accounting for mid- and long-term effects of early-life exposures remain unclear. Epigenetic alterations such as changes in DNA methylation, histone modifications and the expression of certain RNAs have been suggested as possible mediators of long-term health effects of environmental stressors. This report captures discussions and conclusions debated during the last Prenatal Programming and Toxicity meeting held in Japan. Its first aim is to propose a number of criteria that are critical to support the primary contribution of epigenetics in DOHaD and intergenerational transmission of environmental stressors effects. The main criteria are the full characterization of the stressors, the actual window of exposure, the target tissue and function, the specificity of the epigenetic changes and the biological plausibility of the linkage between those changes and health outcomes. The second aim is to discuss long-term effects of a number of stressors such as smoking, air pollution and endocrine disruptors in order to identify the arguments supporting the involvement of an epigenetic mechanism. Based on the developed criteria, missing evidence and suggestions for future research will be identified. The third aim is to critically analyze the evidence supporting the involvement of epigenetic mechanisms in intergenerational and transgenerational effects of environmental exposure and to particularly discuss the role of placenta and sperm. While the article is not a systematic review and is not meant to be exhaustive, it critically assesses the contribution of epigenetics in the long-term effects of environmental exposures as well as provides insight for future research.

Hydration status, drug interactions, and determinants in a Spanish elderly population: a pilot study.

Proper hydration is essential to maintain optimal health and well-being at all stages of life, especially for the elderly. Side effects of certain drugs that affect hydration status may compromise the health of the ancients, who also constitute the most vulnerable group. No studies have been carried out, to our knowledge, at the intersection of drugs and hydration status. Our study aimed to evaluate the effects of chronic use of certain drugs (diuretics, corticoids and metformin) in the hydration status of the elderly. Results were obtained from a cross-sectional study with 96 volunteers (65-93 years) selected based on their pharmacological treatment. It included a validated food and drink frequency questionnaire and water removal, dehydration signs and symptoms assessment and urine analysis. All data were analysed by age and sex. Water balance decreased with advanced age, especially in men's group. Results were confirmed by means of the evaluation of dehydration signs and symptoms and colorimetric and chemical analysis of urine. Correlations between consumption of corticoids and hydration status were found, with different signs depending on the administration route (Rho = 0.522 and Rho = - 0,522 for oral and pulmonary corticoids, respectively). Furthermore, correlations between diuretics (Rho = - 0.343, p < 0.05) and metformin (Rho = - 0.802, p < 0.01) consumption and different urine markers were determined. In conclusion, the predominant dehydration state of the volunteers of the study is affected by drugs consumption and their route of administration. Hence, there is an urgent need for monitorization of hydration status based on drugs consumption.

Cadmium, lead, and zinc mobility and plant uptake in a mine soil amended with sugarcane straw biochar.

Accumulation of heavy metals in unconsolidated soils can prove toxic to proximal environments, if measures are not taken to stabilize soils. One way to minimize the toxicity of metals in soils is the use of materials capable of immobilizing these contaminants by sorption. Biochar (BC) can retain large amounts of heavy metals due to, among other characteristics, its large surface area. In the current experiment, sugarcane-straw-derived biochar, produced at 700 °C, was applied to a heavy-metal-contaminated mine soil at 1.5, 3.0, and 5.0% (w/w). Jack bean and Mucuna aterrima were grown in pots containing a mine contaminated soil and soil mixed with BC. Pore water was sampled to assess the effects of biochar on zinc solubility, while soils were analyzed by DTPA extraction to confirm available metal concentrations. The application of BC decreased the available concentrations of Cd, Pb, and Zn in the mine contaminated soil leading to a consistent reduction in the concentration of Zn in the pore water. Amendment with BC reduced plant uptake of Cd, Pb, and Zn with the jack bean uptaking higher amounts of Cd and Pb than M. aterrima. This study indicates that biochar application during mine soil remediation could reduce plant concentrations of heavy metals. Coupled with this, symptoms of heavy metal toxicity were absent only in plants growing in pots amended with biochar. The reduction in metal bioavailability and other modifications to the substrate induced by the application of biochar may be beneficial to the establishment of a green cover on top of mine soil to aid remediation and reduce risks.

Biochar application to a contaminated soil reduces the availability and plant uptake of zinc, lead and cadmium.

Heavy metals in soil are naturally occurring but may be enhanced by anthropogenic activities such as mining. Bio-accumulation of heavy metals in the food chain, following their uptake to plants can increase the ecotoxicological risks associated with remediation of contaminated soils using plants. In the current experiment sugar cane straw-derived biochar (BC), produced at 700 °C, was applied to a heavy metal contaminated mine soil at 1.5%, 3.0% and 5.0% (w/w). Jack bean (Canavalia ensiformis) and Mucuna aterrima were grown in pots containing soil and biochar mixtures, and control pots without biochar. Pore water was sampled from each pot to confirm the effects of biochar on metal solubility, whilst soils were analyzed by DTPA extraction to confirm available metal concentrations. Leaves were sampled for SEM analysis to detect possible morphological and anatomical changes. The application of BC decreased the available concentrations of Cd, Pb and Zn in 56, 50 and 54% respectively, in the mine contaminated soil leading to a consistent reduction in the concentration of Zn in the pore water (1st collect: 99 to 39 µg L(-1), 2nd: 97 to 57 µg L(-1) and 3rd: 71 to 12 µg L(-1)). The application of BC reduced the uptake of Cd, Pb and Zn by plants with the jack bean translocating high proportions of metals (especially Cd) to shoots. Metals were also taken up by Mucuna aterrima but translocation to shoot was more limited than for jack bean. There were no differences in the internal structures of leaves observed by scanning electron microscopy. This study indicates that biochar application during mine soil remediation reduce plant concentrations of potential toxic metals.

Timeliness of care and prognosis in patients with lung cancer.

BACKGROUND: Timeliness of care is an important dimension of health care quality. The determining factors of less timely care and their influence on the survival of patients with lung cancer (LC) remain uncertain. AIMS: To analyse the delays in the diagnosis and treatment of LC in our health area, the factors associated with the timeliness of care and their possible relationship with the survival of these patients. METHODS: A retrospective study was conducted on all patients with a cytohistologically confirmed diagnosis of LC between 1 June 2005 and 31 May 2008. The time delays for consultation (specialist delay), diagnosis (diagnosis delay), and treatment (treatment delay), were analysed, as well as the factors associated with these delays and the influence of the timeliness of care on survival. RESULTS: A total of 307 cases were included (87 % males). The mean specialist delay was 53.6 days (median 35 days), diagnosis delay 31.5 days (median 18 days), treatment delay 23.5 days (median 14 days). The greater age of the patient and a more advanced stage were associated with a shorter specialist delay. Male sex, a more advanced stage, and poor general status were associated with a shorter treatment delay. The survival is longer in patients with a longer treatment delay. CONCLUSIONS: The delay in the diagnosis in our population seems to be excessively long. The greater the age, a more advanced tumour stage, male sex, and poor general health status are associated with shorter delays. A longer treatment delay is associated with a longer survival.

Free and copolymerized γ-cyclodextrins regulate the performance of dexamethasone-loaded dextran microspheres for bone regeneration.

Polymeric particles acting as sources of biological cues to promote tissue regeneration are currently an interesting topic in bone tissue engineering research. In this study, microspheres of dextran-methacrylate (dextran-MA) and γ-cyclodextrins (γ-CD) for the delivery of osteogenic agents were prepared by means of photopolymerization on biomimetic superhydrophobic surfaces. The effects of the incorporation of the γ-CD units as free entities or as structural monomers (acrylamidomethyl-γ-cyclodextrin, γ-CD-NMA) on dexamethasone loading and release performance were evaluated in detail in order to achieve osteogenic differentiation of human stem cells. The copolymerization of dextran-MA with γ-CD-NMA improved the loading capacity of the particles and also provided a sustained release of dexamethasone for several days. The biological studies revealed that such microspheres were cytocompatible and capable of inducing the differentiation of human adipose-derived stem cells (hASCs) to osteoblasts, as determined from an increase of alkaline phosphatase (ALP) activity between days 3 and 7. Such results were also confirmed using ALP staining. Therefore, immobilization of γ-CDs onto the dextran-MA network may be particularly useful for the development of cytocompatible implantable spherical biomaterials for bone tissue engineering purposes.

[Lung cancer in the Pontevedra health area: incidence, clinical presentation and survival]. / Cancer de pulmon en el area sanitaria de Pontevedra: incidencia, presentación clinica y supervivencia.

BACKGROUND: To describe the clinical and epidemiological characteristics, and survival of patients with lung cancer (LC) in the Pontevedra Health Area. METHODS: A retrospective observational study was conducted on all patients with a diagnosis of LC in the Pontevedra Hospital Complex (CHOP) health area over a three-year period. The data recorded included, age, gender, smoking history, comorbidity, functional status, diagnostic method, histology type, stage, treatment received, and survival. The patients were followed up for 3 years. RESULTS: A total of 358 cases of LC were included in the study, which gave a crude incidence rate adjusted to the standard European population of 37.33/100,000 inhabitants/year in males and 4.88/100,000 inhabitants/year in females. The large majority were males (87%). The mean age was 68.7 years, and 82% were smokers or ex-smokers. The most common histology type was epidermoid, with 35.2% of the cases. The diagnosis was made in stages III-B or IV in 79% of cases. Chemotherapy was the first treatment in 53% of the cases. Survival after the first year was 25%, which decreased to 4% at the third year. CONCLUSIONS: The incidence of LC in our health area continues to be mainly in male smokers, although the incidence in females and in people who never smoked is higher than in other populations in our country. It is diagnosed in the advance stages of the disease, and survival is poor.

Cáncer de pulmón en el área sanitaria de Pontevedra: incidencia, presentación clínica y supervivencia / Lung cancer in the Pontevedra health area: incidence, clinical presentation and survival

Fundamento. Describir las características clínicas, epidemiológicas y supervivencia de los pacientes con cáncer de pulmón (CP) en el área sanitaria de Pontevedra. Material y métodos. Se realizó un estudio observacional, retrospectivo, incluyendo todos los pacientes con diagnóstico de CP en el área sanitaria del Complexo Hospitalario de Pontevedra(CHOP), incluyendo todos los casos diagnosticados en un período de 3 años. De cada paciente se incluyeron edad, sexo, tabaquismo, comorbilidad, estado funcional, método diagnóstico, tipo histológico, estadio, tipo de tratamiento y supervivencia. Los pacientes fueron seguidos durante 3 años Resultados. Se incluyeron en el estudio un total de 358 casos de CP, lo cual supone una tasa cruda de incidencia ajustada a la población europea estándar de 37,33/100.000 habitantes/año en varones y de 4,88/100.000 habitantes/año en mujeres. El 87%fueron varones, de 68,7 años de edad media, el 82% fumadores o exfumadores. El tipo histológico más frecuente fue el epidermoide, con el 35,2% de los casos. En el 79% de los casos se realizó el diagnóstico en estadios III-B o IV. La quimioterapia fue el primer tratamiento en el 53% de los casos. La supervivencia al primer año es del 25%, que se reduce al 4% al tercer año. Conclusiones. La incidencia de CP en nuestra área sanitaria sigue predominando en varones fumadores, aunque la incidencia en el sexo femenino y en nunca fumadores es superior a otras poblaciones de nuestro entorno. El diagnóstico se lleva a cabo en fases avanzadas de la enfermedad y la supervivencia es pobre (AU)

Backgroud. To describe the clinical and epidemiological characteristics, and survival of patients with lung cancer (LC) in the Pontevedra Health Area. Methods. A retrospective observational study was conducted on all patients with a diagnosis of LC in the Pontevedra Hospital Complex (CHOP) health area over a three-year period. The data recorded included, age, gender, smoking history, comorbidity, functional status, diagnostic method, histology type, stage, treatment received, and survival. The patients were followed up for 3 years. Results. A total of 358 cases of LC were included in the study, which gave a crude incidence rate adjusted to the standard European population of 37.33/100,000 inhabitants/year in males and 4.88/100,000 inhabitants/year in females. The large majority were males (87%). The mean age was68.7 years, and 82% were smokers or ex-smokers. The most common histology type was epidermoid, with 35.2% of the cases. The diagnosis was made in stages III-B or IV in 79% of cases. Chemotherapy was the first treatment in 53% of the cases. Survival after the first year was 25%, which decreased to 4% at the third year. Conclusions. The incidence of LC in our health area continues to be mainly in male smokers, although the incidence in females and in people who never smoked is higher than in other populations in our country. It is diagnosed in the advance stages of the disease, and survival is poor (AU)

Trends of asthma mortality in Galicia from 1993 to 2007.

INTRODUCTION: In the past few years, deaths due to asthma appear to decrease at least in Western countries; but there are significant variations between populations. The aim of this study is to describe the trends in deaths due to asthma between 1993 and 2007 in our community and to analyze any factors associated with this. METHODS: All cases, which had asthma as a cause of death, were included in the study. The mortality data were obtained from the official death certificate from the Deaths Register. Mortality relative risk, based on the calendar year, sociodemographic variables (age and gender), seasons, and days of the week, were estimated using a Poisson generalized linear model with a log-link. RESULTS: In the 15 years of the study period, a total of 1180 people had died due to asthma, mainly in winter (34.5%), women (64.5%), and advanced age (65 years or above; 84.6%). A tendency of decreased mortality in all age groups was observed during the period of the study, which was significant in both the sexes in the 35- to 64-year-old age group, and in males above 65 years. CONCLUSION: Death due to asthma is changing favorably in our community, with a tendency to decrease in the past few years. Advanced age, being female, and the winter period are associated with a higher mortality rate due to asthma.

[Delayed diagnosis of alpha-1 antitrypsin deficiency]. / Diagnóstico tardío de déficit de α-1-antitripsina.

Alpha-1 antitrypsin deficiency (AAT-D) is a genetic disease, relatively common in populations of European ancestry. AAT-D remains undiagnosed in many patients, and there are often long delays between the onset of respiratory symptoms and diagnosis. AAT-D can be readily diagnosed by measurement of the serum or plasma protein level, which should be confirmed by assessing the genotype or protein phenotype when AAT levels are below the normal range. Close monitoring for the development or progression of lung disease or liver disease is required, and can improve the prognosis. We show the case of a 69 year old woman with recurrent respiratory infections and asthma symptoms. The serum levels of AAT were below the normal range, and ZZ genotype was confirmed. The delayed diagnosis of our patient seems to emphasize the need to remind the doctors about AAT-D, frequently associated with asthma or COPD symptoms.

Factores asociados al pronóstico de pacientes operados por cáncer gástrico avanzado / Pathological factors associated with survival in advanced gastric cancer

Background: The degree of tumor infiltration and lymph node involvement are the most relevant pathological features to determine prognosis of advanced gastric cancer. Aim: To determine the association between clinical and pathological features of advanced gastric cancer and patient survival. Material and Methods: The pathological records of patients with advanced gastric cancer subjected to gastrectomy and lymph node excision between 1986 and 2007 were analyzed. Follow up was performed according to data in the clinical records and death certificates obtained at the Chilean National Death Registry. The main outcome analyzed was survival after surgery. Results: The records of 299 patients aged 62 +/- 11 years (68 percent males), were analyzed. Mean follow up ranged from 1 to 206 months. Five and 10 years actuarial survival was 39 and 34 percent, respectively. The pathological predictors of survival were microscopic tumor stage, tumor size and location, Bormann classification, infiltration level, degree of differentiation, pathological type of tumor according to Lauren, Ming y Nakamura, lymph node involvement and the absence of residual tumor after surgical excision. Conclusions: The pathological study of the surgical piece in advanced gastric cancer has important prognostic implications.

Introducción: El estudio de la pieza operatoria de pacientes resecados por cáncer gástrico (CG) ha permitido identificar variables anatomo-patológicas con valor pronóstico en la supervivencia (SV) y recurrencia de estos pacientes, siendo el compromiso ganglionar linfático y nivel de infiltración tumoral, los factores más relevantes identificados. El objetivo de este estudio es determinar asociación entre variables clínicas y morfológicas con la SV de pacientes resecados por CG avanzado (CGA). Material y Método: Estudio de cohorte retrospectiva. Se estudiaron variables clínicas y morfológicas de 299 pacientes operados por CGA entre enero de 1986-diciembre de 2001. Los datos fueron obtenidos desde la Unidad de Anatomía Patológica del Hospital Hernán Henríquez Aravena de Temuco. Se aplicó estadística descriptiva y analítica; confección de curvas de supervivencia, y finalmente se aplicaron modelos de regresión logística para realizar ajuste, calcular odds ratios y sus respectivos intervalos de confianza de 95 por ciento. Resultados: La cohorte tuvo una mediana de edad de 63 años y el 68 por ciento de ella correspondió al género masculino. Con una mediana de seguimiento de 21 meses (1 a 206), se observó una SV actuarial global a 5 y 10 años de 39 por ciento y 34 por ciento respectivamente. En el análisis bivariado, se verificó asociación con la SV en: etapa tumoral macroscópica, localization y tamaño tumoral, tipo según Bormann, nivel de infiltración, grado de diferenciación histológico, tipo histológico según Lauren, Ming y Nakamura, estado ganglionar linfático (N), estadio TNM y resultado de la resección realizada. Conclusiones: Las variables mencionadas deben ser cuidadosamente evaluadas al momento de decidir terapias en pacientes con CGA.

Diagnóstico tardío de déficit de α-1- antitripsina / Delayed diagnosis of alpha-1 antitrypsin deficiency

El déficit de alfa-1 antitripsina (D-AAT) es una enfermedad genética, relativamente frecuente en poblaciones de origen europeo. Frecuentemente está infradiagnosticada, con largos retrasos entre el inicio de los síntomas respiratorios y el diagnóstico definitivo. El D-AAT puede diagnosticarse con la determinación de los niveles séricos de esta proteína, y, cuando están por debajo del rango normal debe ser confirmado con el fenotipo. El seguimiento correcto de la progresión de la enfermedad debe realizarse en todos los casos, ya que se asocia con mejor pronóstico. Presentamos el caso de una mujer de 69 años, con infecciones respiratorias de repetición y sintomatología asmática. Los niveles de AAT estaban por debajo de la normalidad, confirmándose posteriormente el fenotipo ZZ. El retraso diagnóstico de nuestra paciente parece reforzar la necesidad de alertar a los médicos sobre esta enfermedad, frecuentemente asociada con síntomas de asma o EPOC (AU)

Alpha-1 antitrypsin deficiency (AAT-D) is a genetic disease, relatively common in populations of European ancestry. AAT-D remains undiagnosed in many patients, and there are often long delays between the onset of respiratory symptoms and diagnosis. AAT-D can be readily diagnosed by measurement of the serum or plasma protein level, which should be confirmed by assessing the genotype or protein phenotype when AAT levels are below the normal range. Close monitoring for the development or progression of lung disease or liver disease is required, and can improve the prognosis. We show the case of a 69 year old woman with recurrent respiratory infections and asthma symptoms. These rum levels of AAT were below the normal range, and ZZ genotype was confirmed. The delayed diagnosis of our patient seems to emphasize the need to remind the doctors about AAT-D, frequently associated with asthma or COPD symptoms(AU)

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged survival of affected infants. The current open-label study was performed to evaluate the response in older children (age 5.9-15.2 years). The five patients that we studied had limb-girdle muscle weakness and three of them also had decreased pulmonary function in upright and supine position. They received 20-mg/kg recombinant human α-glucosidase every two weeks over a 3-year period. No infusion-associated reactions were observed. Pulmonary function remained stable (n = 4) or improved slightly (n = 1). Muscle strength increased. Only one patient approached the normal range. Patients obtained higher scores on the Quick Motor Function Test. None of the patients deteriorated. Follow-up data of two unmatched historical cohorts of adults and children with Pompe disease were used for comparison. They showed an average decline in pulmonary function of 1.6% and 5% per year. Data on muscle strength and function of untreated children were not available. Further studies are required.

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.

Patients with chromosome 22q11 deletion syndrome exhibit significant phenotypic variability. Epidemiologic data suggest a higher incidence in Hispanics, but limited clinical information is available from Latin-American patients. We describe the clinical features of Chilean patients with 22q11 deletion syndrome and compare their findings with those reported in large European, Japanese and US series. Data were obtained from 208 patients from five medical centers. Mean age at diagnosis was 5.2 years, with a median of 2.3 years. Congenital heart defects were present in 59.6%, lower than other large series that averaged 75.8%. Palate abnormalities were present in 79%, higher than previous reports averaging 56%. Patients with congenital heart disease were diagnosed earlier (median 0.3 years of age) than those without heart defects (median 5.6 years) and had greater mortality attributable to the syndrome (9.8% vs 2.4%, respectively). The differences in frequencies of major anomalies may be due to growing awareness of more subtle manifestations of the syndrome, differences in clinical ascertainment or the presence of modifier factors. These observations provide additional data useful for patient counseling and for the proposal of health care guidelines.

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.

Imiglucerase (Cerezyme) has been the standard of care for treatment of Gaucher disease, a lysosomal storage disorder resulting from deficiency of glucocerebrosidase, since its approval in 1994. Infusions are typically given once every 2 weeks. However, many patients have expressed a desire for less frequent infusions as a matter of convenience. This clinical study assessed the safety and efficacy of intravenous imiglucerase infused once every 4 weeks (Q4) compared to once every 2 weeks (Q2) at the same total monthly dose in adult patients with clinically stable Gaucher disease type 1 (GD1). This was a 24-month, open-label, randomized, Phase 4, dose-frequency study conducted in 25 centers worldwide. Patients receiving imiglucerase were randomized to receive their monthly dose biweekly (n=33) or every 4 weeks (n=62). Changes from baseline in hemoglobin, platelets, liver and spleen volumes, bone crisis, and bone disease comprised a predefined composite endpoint; achievement or maintenance of established Gaucher disease therapeutic goals comprised a secondary endpoint. Sixty-three percent of Q4- and 81% of Q2-treated patients met the composite endpoint at Month 24; 89% of Q4- and 100% of Q2-treated patients met the therapeutic goals-based endpoint. The frequency of related adverse events was comparable between treatment groups. This study suggests that with comprehensive monitoring, a Q4 imiglucerase infusion regimen may be a safe and effective treatment option for the majority of clinically stable adult patients with GD1 but may not be appropriate for all GD1 patients. Continued monitoring in patients treated with Q4 dosing is required to assess long-term effectiveness.

Patient expectations are not always the same.

OBJECTIVE: To validate a scale that measures patients' expectations when seeking advice for health problems of different types. METHODS: 360 patients who had consulted their general practitioner (GP) during the previous 12 months were randomly selected from the lists of 30 GPs. A questionnaire, including a 13-item expectation scale, was administered by interview in the patient's home to assess expectations in relation to five health problems, three biomedical (strong chest pain, genital discharge and the common cold) and two psychosocial (depression/sadness and serious family problem), repeating the expectation scale for each one. The frequency distribution of items was analysed, multi-level factorial analysis was performed and the reliability of the expectation scale was tested for each hypothetical clinical condition. RESULTS: The response rate was 90%. Mean age of patients was 47.3 years (SD 16.5); 51% were women. Expectations were high but varied according to the nature and severity of the condition. The percentage of patients wanting the doctor alone to make decisions ranged from 50% for "family problem" to 68% for "chest pain". The five factorial structures differed and explained 49.3-63.9% of the variance. Similarities were observed depending on the type of problem. "Communication" and "Experience of disease" were thus separate dimensions for the biomedical diseases but mixed for the psychosocial conditions. CONCLUSIONS: The factorial structure of expectations varied, indicating that expectations are not homogeneous in all clinical situations. The desire of the patient to participate in decision-making also differs according to the type of health problem.

Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.

BACKGROUND AND PURPOSE: There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI) in MPS II. MATERIALS AND METHODS: Nineteen male patients with MPS II were included in this study. They were evaluated through intelligence/developmental tests to be classified in 2 groups: patients with CI (group A) or patients without CI (group B). Brain MR imaging evaluated white matter (WM) lesions, hydrocephalus, and brain atrophy. Voxels from MR spectroscopy (point-resolved spectroscopy TE 30 ms) were positioned in the WM of the deep right frontal lobe and at the gray matter (GM) in the posterior occipital cortex across the midline. Comparison of MR imaging and MR spectroscopy findings between these 2 groups and a control group was performed. RESULTS: The mean age of the patients was 9.6 years (group A, 7.08 years old, 12 patients; group B, 14 years old, 7 patients; P = .076). Brain atrophy and hydrocephalus were more frequently found in group A patients (P=.006 and P=.029, respectively); these patients also presented more severe WM lesions than patients from group B (P=.022). Patients from group A also had a higher myo-inositol (mIns)/creatine (Cr) ratio in the GM (P=.046) and in the WM (P=.032). The choline/Cr and N-acetylaspartate/Cr ratios were similar in both groups. CONCLUSIONS: Our study showed that severe WM lesions, brain atrophy, hydrocephalus, and elevated mIns/Cr were more common in patients with MPS II and with CI.