Javier Perez-Frias - Academia.edu (original) (raw)
Papers by Javier Perez-Frias
Allergologia et immunopathologia, Nov 1, 2015
An increase in the prevalence of asthma, rhinitis and eczema as paradigms of atopic diseases in c... more An increase in the prevalence of asthma, rhinitis and eczema as paradigms of atopic diseases in children has been well documented. In Spain, the prevalence of asthma and rhinitis has also increased, especially among small children, during the last decades. Many studies have tried to establish a relationship between different environmental exposures in the first year of life and the risk of developing allergic disease both in children and in adults. Only a few studies have tried to identify a relationship between environmental exposure and the risk of sensitisation, with no consistent results. The aim of this study is to establish a possible relationship between pet keeping during the first year of life and the risk of sensitisation to house dust mite, cat and dog allergens in preschool children. Children aged 4 and 5 years attending public schools in Estepona (Málaga, Spain) were invited to join the study during the school years 2006--2007 and 2008--2009. Participation varied widely among centers from 25% to 100%. Parents of the participants answered a questionnaire modelled on the International Study of Asthma and Allergies in Childhood (ISAAC) format, validated for the Spanish population, and slightly modified to avoid the questions related to the progression of allergic diseases. The study was approved by the local and regional educational authority, and written consent was obtained from all parents. Skin prick tests were performed using the method described by the European Academy of Allergology and Clinical Immunology (EAACI). Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat dander and dog dander were tested. Statistical analyses were performed using PASW Statistics 18 [(formerly SPSS)© 2009 SPSS Ibérica, IBM Company]. Numerical variables were expressed as medians and Table 1 Socio-demographic characteristics of subjects participating.
International Journal of Molecular Sciences, Dec 23, 2019
Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling,... more Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments. To date, 65 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. This review intends to summarize and update all the conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of these inherited disorders have been identified in recent years. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are also briefly described. Appropriate clinical and diagnostic characterization of the underlying molecular defect may give patients the opportunity to avail themselves of appropriate therapeutic options in the future.
Open journal of pediatrics and child health, Jul 3, 2019
Humans have died from CF for thousands of years, while, the fi rst clear references to the diseas... more Humans have died from CF for thousands of years, while, the fi rst clear references to the disease extend back only a few centuries. It was recorded in popular ancient folklore from Northern Europe which ensured that if you kissed a child with a salty taste, it was said to be "hexed" and would die an early death. In 1936 Professor Guido Fanconi established a relationship between celiac disease and cystic fi brosis of the pancreas and bronchiectasis and wrote about it in his work entitled "Familiar Pancreatic Cystic Fibromatosis with bronchiectasis". Studying 47 families with patients suffering from this disease, Andersen and Hodges in 1946 concluded that for families, the situation was concordant with autosomal auto recessive inheritance. Discovery of the sweat electrolyte defect in 1953 and standardization of the sweat test in 1959 allowed identifi cation of milder cases. The pillars of care established then (attention to nutrition, airway clearance, treatment of lung infection) remain today. In 1985, the gene for chromosome 7 was identifi ed and at the end of the decade it was patent that CF was caused by poor functioning of the chloride channel dependent on cAMP. This was confi rmed with the identifi cation of the gene and its protein product (CFTR) in 1989 through the positional cloning of Lap-Chee Tsui and John Riordan (Toronto) on the same number of Science together with Francis S Collins (Michigan). In 1991, it was demonstrated that the protein CFTR forms a chloride canal and that it needs ATP hydrolysis to open. This afforded new diagnostic tests, opportunities for research, and prospects for using the gene as therapy.
Archivos De Bronconeumologia, Apr 1, 2007
OBJECTIVE: To study self-perceived quality of life in adults with cystic fibrosis (CF), and to as... more OBJECTIVE: To study self-perceived quality of life in adults with cystic fibrosis (CF), and to assess the validity of the St George's Respiratory Questionnaire (SGRQ) for use in these patients. PATIENTS AND METHODS: We studied 37 adults with CF who were in stable condition as indicated by their respiratory and nutritional status. Disease severity was assessed by spirometry used in conjunction with a modified National Institutes of Health (NIH) scoring system and the Bhalla scale. Nutritional status was evaluated by measuring height and weight, calculating body mass index, analyzing bioelectric impedance, and performing various laboratory tests. The patients' quality of life was assessed using the SGRQ. RESULTS: SGRQ scores were higher (indicating poorer quality of life) among patients with CF than in the general population or among patients with chronic obstructive pulmonary disease. Internal consistency coefficients indicated the SGRQ had good reliability (Cronbach's alpha, 0.864). Women with CF tended to score higher than men, although this difference was not statistically significantly. A statistically significant relationship was observed between SGRQ score and severity of pulmonary impairment (the more severe the impairment, the worse the patient's quality of life). Statistically significant positive relationships were found between SGRQ domains and age, body mass index, and body fat percentage. Significant negative relationships were found between these domains and the modified NIH score, the Bhalla score, forced expiratory volume in 1 second (expressed as a percentage of predicted), and somatomedin C and zinc levels. CONCLUSIONS: Self-perceived quality of life is worse among adults with CF than in the general population or among patients with chronic obstructive pulmonary disease. The SGRQ is a valid instrument for analyzing health-related quality of life in adults with CF as it discriminates very well between different degrees of severity of pulmonary impairment and has acceptable internal consistency.
Archivos De Bronconeumologia, Jul 1, 2011
Historia del articulo:Recibido el 18 de marzo de 2011Aceptado el 2 de abril de 2011On-line el 19 ... more Historia del articulo:Recibido el 18 de marzo de 2011Aceptado el 2 de abril de 2011On-line el 19 de mayo de 2011Palabras clave:Broncoscopia flexible;Ninos;˜Biopsia bronquial;Biopsia transbronquial;Lavado broncoalveolar;Broncoscopia rigidaKeywords:Lexible bronchoscopyChildrenBronchial biopsyTransbronchial biopsyBronchoalveolar lavageRigid bronchoscopy
Archivos De Bronconeumologia, Mar 1, 1993
La fibrobroncoscopia (FBC) es actualmente una tecnica indispensable en las unidades de neumologia... more La fibrobroncoscopia (FBC) es actualmente una tecnica indispensable en las unidades de neumologia infantil. Se presenta nuestra serie adaptada segun el consenso de la ATS. Entre mayo de 1990 y enero de 1992 se realizaron 75 procedimientos, que incluyeron broncoaspirados, lavado broncoalveolar, biopsia bronquial y hroncografia en ninos de edades comprendidas entre el nacimiento y los 14 anos (media 2,2; DE: 3,8). Las indicaciones mas frecuentes fueron neumonias recidivantes (27,3%), atelectasia (20,8%) y sospecha de cuerpo extrano (7,8%). El regimen de sedacion empleado en el 92% de los casos fue la asociacion de diazepam-ketamina. Tres pacientes sufrieron complicaciones severas. Como consecuencia directa de la FBC, el 61% de los pacientes sufrieron un cambio de actitud terapeutica.
Pediatric Allergy and Immunology, 2019
Background. Data addressing short-and long-term respiratory morbidity in moderate-late preterm in... more Background. Data addressing short-and long-term respiratory morbidity in moderate-late preterm infants is limited. We aim to determine the incidence of recurrent wheezing and associated risk and protective factors in these infants during the first 3 years of life. Methods. Prospective, multicenter birth cohort study of infants born at 32 +0 to 35 +0 weeks' gestation and followed for 3 years to assess the incidence of physician-diagnosed recurrent wheezing. Allergen sensitization and pulmonary function were also studied. We used multivariate mixed-effects models to identify risk factors associated with recurrent wheezing. Results: 977 preterm infants were enrolled. Rates of recurrent wheezing during year (Y)1 and Y2 were similar (19%) but decreased to 13.3% in Y3. Related hospitalizations significantly declined from 6.3% in Y1 to 0.75% in Y3. Independent risk factors for recurrent wheezing during Y2 and Y3 included: day care attendance, acetaminophen use during pregnancy and need for mechanical ventilation. Atopic dermatitis on Y2 and male sex on Y3 were also independently associated with recurrent wheezing. Palivizumab prophylaxis for RSV during the first year of life, decreased the risk or recurrent wheezing on Y3. While there were no differences in rates of allergen sensitization, pulmonary function tests (FEV 0.5) were significantly lower in children who developed recurrent wheezing. Conclusions. In moderate-to-late premature infants, respiratory symptoms associated with lung morbidity persisted during the first 3 years of life and were associated with abnormal pulmonary function tests. Only anti-RSV prophylaxis exerted a protective effect in the development of recurrent wheezing.
Anales de Pediatría (English Edition)
European Respiratory Journal, Sep 1, 2011
Introduction: Nutrition supplied through enteral route is of greater benefit to preterm newborn t... more Introduction: Nutrition supplied through enteral route is of greater benefit to preterm newborn than that supplied through parenteral administration. The insertion of a nasogastric tube (NGT) can occasionally be problematic. Several methods and maneuvers have been described for difficult insertion, but all of them refered to anaesthetized or unconscious patient. We present the case of a NGT insertion assisted by a flexible bronchoscope in a preterm infant. Case report: A seven-days old female infant, born at 29 weeks gestation and 979 gr of weigh, was hospitalized in the neonatal intensive care unit (NICU) as she suffered an hyaline membrane disease. She needed mechanical ventilation and enteral nutrition through a NGT. It was not possible to introduce the NGT with the standard procedure. After repeated failures of NGT placement and a mayor complication –pneumothorax-, the neonatologist asked the paediatric pulmonology unit for help as the gastroenterology unit could not help them because their smallest gastroscope was 4.9mm diameter. We used the 2.8mm diameter bronchoscope to go through the esophagus to the stomach. Then we passed a guide through the working channel. After that we removed the bronchoscope maintaining the guide in the stomach. Finally the guide was used to introduce the NGT. We checked the NGT placement with a X-Ray and it was in the correct position. Conclusion: NGT is commonly used in NICU. Accurate tube placement is important to ensure a safe and effective enteral feeding. Literature describes misplacement of NGT including its location in the respiratory tract and pleural space, upper oesophagus, or past the pylorus. The introduction aided with an endoscopy visualization can avoid these complications.
International Journal of Neonatal Screening, 2019
Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried bloo... more Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin with measuring immunoreactive trypsinogen (IRT). Pancreatitis-associated protein (PAP) has been suggested as second-tier testing. The main objective of this study was to evaluate the analytical performance of an IRT/PAP/IRT strategy versus the current IRT/IRT strategy over a two-year pilot study including 68,502 newborns. The design of the study, carried out in a prospective and parallel manner, allowed us to compare four different CF-NBS protocols after performing a post hoc analysis. The best PAP cutoff point and the potential sources of PAP false positive results in our non-CF newborn population were also studied. 14 CF newborns were detected, resulting in an overall CF prevalence of 1/4, 893 newborns. The IRT/IRT algorithm detected all CF cases, but the IRT/PAP/IRT algorithm f...
Journal of Medical Genetics, 2001
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated wi... more A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.
Actas Dermo-Sifiliográficas, 2005
La psoriasis es un enfermedad crónica de la piel que no amenaza la vida del paciente, aunque pued... more La psoriasis es un enfermedad crónica de la piel que no amenaza la vida del paciente, aunque puede impactar en su vida diaria de forma importante. Se caracteriza por la presencia de inflamación, incremen-ESTUDIOS CLÍNICOS Y DE LABORATORIO
Nina de 3 anos de edad que acude a Urgencias por cuadro de 7 dias de evolucion caracterizado por ... more Nina de 3 anos de edad que acude a Urgencias por cuadro de 7 dias de evolucion caracterizado por fiebre, tos seca rinorrea y rechazo parcial del alimento, con decaimiento y quejido respiratorio en las ultimas 48 horas. No presenta antecedentes personales y familiares de interes clinico.
Anales de Pediatría, 2002
... Pubmed 6. Wensel R, Opitz Ch, Ewert R, Bruch L, Kleber X. Effects of iloprost inhalation on e... more ... Pubmed 6. Wensel R, Opitz Ch, Ewert R, Bruch L, Kleber X. Effects of iloprost inhalation on exercise capacity and ventilatory efficiency in patients with primary ... Blasco Alonso, J a ; López López, J a ; Conejo Muñoz, L b ; Lamas Martínez, R c ; Pérez Frías, J a ; Pérez Ruiz, E a. ...
Anales De Pediatria, 2004
El asma no es una enfermedad nueva. El proceso como síntoma se recoge ya en el papiro de Ebers (3... more El asma no es una enfermedad nueva. El proceso como síntoma se recoge ya en el papiro de Ebers (3500 a.C.), y fue Hipócrates el primero que usó esta palabra para describir una enfermedad. Maimónides es reconocido como el primer autor de una monografía sobre el proceso. Su incidencia y mortalidad siguen incrementándose en la actualidad, y el asma se ha convertido en el proceso crónico más frecuente en la infancia. Su infradiagnóstico conlleva un mal tratamiento y, como consecuencia, el incremento en su morbimortalidad. El asma se considera como una enfermedad heterogénea, con 3 factores emergentes en la primera década de la vida: alteraciones inmunológicas, infecciones del árbol respiratorio y alguna forma de interacción genética con el ambiente (alérgenos) sin que, hasta el momento, se consiga una estrategia universal para su control. Se discuten las opciones terapéuticas empleadas en el pasado y los nuevos tratamientos emergentes.
Anales De Pediatria, 2002
Sumário: 1. A noção de coisa pública como bem de todos. 2. Controle, democracia e corrupção. 3. C... more Sumário: 1. A noção de coisa pública como bem de todos. 2. Controle, democracia e corrupção. 3. Controle da Administração Pública: conceito, finalidade, natureza de poder-dever. 4. Controle das atividades do Estado e responsabilidade. 5. O princípio da dignidade da pessoa humana como critério material prioritário de aferição da legitimidade das atividades do Estado. Resumo: Este artigo é uma reflexão sobre o controle da Administração Pública a partir da noção da coisa pública como res publica, posto que imprópria sua concepção como res nullius. São também abordadas as conexões entre controle, democracia e corrupção. Trata ainda do conceito, finalidades e natureza de poderdever do controle da Administração Pública. Estabelece uma conexão entre o controle das atividades do Estado e a responsabilidade pública para se garantir um equilíbrio razoável e prudente entre os binômios: governantes e governados; poder e direitos; prerrogativas e garantias; autoridade e liberdade. Por fim, trata do princípio da dignidade humana, que é o critério prioritário de aferição da legitimidade das atividades do Estado.
Allergologia et immunopathologia, Nov 1, 2015
An increase in the prevalence of asthma, rhinitis and eczema as paradigms of atopic diseases in c... more An increase in the prevalence of asthma, rhinitis and eczema as paradigms of atopic diseases in children has been well documented. In Spain, the prevalence of asthma and rhinitis has also increased, especially among small children, during the last decades. Many studies have tried to establish a relationship between different environmental exposures in the first year of life and the risk of developing allergic disease both in children and in adults. Only a few studies have tried to identify a relationship between environmental exposure and the risk of sensitisation, with no consistent results. The aim of this study is to establish a possible relationship between pet keeping during the first year of life and the risk of sensitisation to house dust mite, cat and dog allergens in preschool children. Children aged 4 and 5 years attending public schools in Estepona (Málaga, Spain) were invited to join the study during the school years 2006--2007 and 2008--2009. Participation varied widely among centers from 25% to 100%. Parents of the participants answered a questionnaire modelled on the International Study of Asthma and Allergies in Childhood (ISAAC) format, validated for the Spanish population, and slightly modified to avoid the questions related to the progression of allergic diseases. The study was approved by the local and regional educational authority, and written consent was obtained from all parents. Skin prick tests were performed using the method described by the European Academy of Allergology and Clinical Immunology (EAACI). Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat dander and dog dander were tested. Statistical analyses were performed using PASW Statistics 18 [(formerly SPSS)© 2009 SPSS Ibérica, IBM Company]. Numerical variables were expressed as medians and Table 1 Socio-demographic characteristics of subjects participating.
International Journal of Molecular Sciences, Dec 23, 2019
Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling,... more Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments. To date, 65 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. This review intends to summarize and update all the conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of these inherited disorders have been identified in recent years. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are also briefly described. Appropriate clinical and diagnostic characterization of the underlying molecular defect may give patients the opportunity to avail themselves of appropriate therapeutic options in the future.
Open journal of pediatrics and child health, Jul 3, 2019
Humans have died from CF for thousands of years, while, the fi rst clear references to the diseas... more Humans have died from CF for thousands of years, while, the fi rst clear references to the disease extend back only a few centuries. It was recorded in popular ancient folklore from Northern Europe which ensured that if you kissed a child with a salty taste, it was said to be "hexed" and would die an early death. In 1936 Professor Guido Fanconi established a relationship between celiac disease and cystic fi brosis of the pancreas and bronchiectasis and wrote about it in his work entitled "Familiar Pancreatic Cystic Fibromatosis with bronchiectasis". Studying 47 families with patients suffering from this disease, Andersen and Hodges in 1946 concluded that for families, the situation was concordant with autosomal auto recessive inheritance. Discovery of the sweat electrolyte defect in 1953 and standardization of the sweat test in 1959 allowed identifi cation of milder cases. The pillars of care established then (attention to nutrition, airway clearance, treatment of lung infection) remain today. In 1985, the gene for chromosome 7 was identifi ed and at the end of the decade it was patent that CF was caused by poor functioning of the chloride channel dependent on cAMP. This was confi rmed with the identifi cation of the gene and its protein product (CFTR) in 1989 through the positional cloning of Lap-Chee Tsui and John Riordan (Toronto) on the same number of Science together with Francis S Collins (Michigan). In 1991, it was demonstrated that the protein CFTR forms a chloride canal and that it needs ATP hydrolysis to open. This afforded new diagnostic tests, opportunities for research, and prospects for using the gene as therapy.
Archivos De Bronconeumologia, Apr 1, 2007
OBJECTIVE: To study self-perceived quality of life in adults with cystic fibrosis (CF), and to as... more OBJECTIVE: To study self-perceived quality of life in adults with cystic fibrosis (CF), and to assess the validity of the St George's Respiratory Questionnaire (SGRQ) for use in these patients. PATIENTS AND METHODS: We studied 37 adults with CF who were in stable condition as indicated by their respiratory and nutritional status. Disease severity was assessed by spirometry used in conjunction with a modified National Institutes of Health (NIH) scoring system and the Bhalla scale. Nutritional status was evaluated by measuring height and weight, calculating body mass index, analyzing bioelectric impedance, and performing various laboratory tests. The patients' quality of life was assessed using the SGRQ. RESULTS: SGRQ scores were higher (indicating poorer quality of life) among patients with CF than in the general population or among patients with chronic obstructive pulmonary disease. Internal consistency coefficients indicated the SGRQ had good reliability (Cronbach's alpha, 0.864). Women with CF tended to score higher than men, although this difference was not statistically significantly. A statistically significant relationship was observed between SGRQ score and severity of pulmonary impairment (the more severe the impairment, the worse the patient's quality of life). Statistically significant positive relationships were found between SGRQ domains and age, body mass index, and body fat percentage. Significant negative relationships were found between these domains and the modified NIH score, the Bhalla score, forced expiratory volume in 1 second (expressed as a percentage of predicted), and somatomedin C and zinc levels. CONCLUSIONS: Self-perceived quality of life is worse among adults with CF than in the general population or among patients with chronic obstructive pulmonary disease. The SGRQ is a valid instrument for analyzing health-related quality of life in adults with CF as it discriminates very well between different degrees of severity of pulmonary impairment and has acceptable internal consistency.
Archivos De Bronconeumologia, Jul 1, 2011
Historia del articulo:Recibido el 18 de marzo de 2011Aceptado el 2 de abril de 2011On-line el 19 ... more Historia del articulo:Recibido el 18 de marzo de 2011Aceptado el 2 de abril de 2011On-line el 19 de mayo de 2011Palabras clave:Broncoscopia flexible;Ninos;˜Biopsia bronquial;Biopsia transbronquial;Lavado broncoalveolar;Broncoscopia rigidaKeywords:Lexible bronchoscopyChildrenBronchial biopsyTransbronchial biopsyBronchoalveolar lavageRigid bronchoscopy
Archivos De Bronconeumologia, Mar 1, 1993
La fibrobroncoscopia (FBC) es actualmente una tecnica indispensable en las unidades de neumologia... more La fibrobroncoscopia (FBC) es actualmente una tecnica indispensable en las unidades de neumologia infantil. Se presenta nuestra serie adaptada segun el consenso de la ATS. Entre mayo de 1990 y enero de 1992 se realizaron 75 procedimientos, que incluyeron broncoaspirados, lavado broncoalveolar, biopsia bronquial y hroncografia en ninos de edades comprendidas entre el nacimiento y los 14 anos (media 2,2; DE: 3,8). Las indicaciones mas frecuentes fueron neumonias recidivantes (27,3%), atelectasia (20,8%) y sospecha de cuerpo extrano (7,8%). El regimen de sedacion empleado en el 92% de los casos fue la asociacion de diazepam-ketamina. Tres pacientes sufrieron complicaciones severas. Como consecuencia directa de la FBC, el 61% de los pacientes sufrieron un cambio de actitud terapeutica.
Pediatric Allergy and Immunology, 2019
Background. Data addressing short-and long-term respiratory morbidity in moderate-late preterm in... more Background. Data addressing short-and long-term respiratory morbidity in moderate-late preterm infants is limited. We aim to determine the incidence of recurrent wheezing and associated risk and protective factors in these infants during the first 3 years of life. Methods. Prospective, multicenter birth cohort study of infants born at 32 +0 to 35 +0 weeks' gestation and followed for 3 years to assess the incidence of physician-diagnosed recurrent wheezing. Allergen sensitization and pulmonary function were also studied. We used multivariate mixed-effects models to identify risk factors associated with recurrent wheezing. Results: 977 preterm infants were enrolled. Rates of recurrent wheezing during year (Y)1 and Y2 were similar (19%) but decreased to 13.3% in Y3. Related hospitalizations significantly declined from 6.3% in Y1 to 0.75% in Y3. Independent risk factors for recurrent wheezing during Y2 and Y3 included: day care attendance, acetaminophen use during pregnancy and need for mechanical ventilation. Atopic dermatitis on Y2 and male sex on Y3 were also independently associated with recurrent wheezing. Palivizumab prophylaxis for RSV during the first year of life, decreased the risk or recurrent wheezing on Y3. While there were no differences in rates of allergen sensitization, pulmonary function tests (FEV 0.5) were significantly lower in children who developed recurrent wheezing. Conclusions. In moderate-to-late premature infants, respiratory symptoms associated with lung morbidity persisted during the first 3 years of life and were associated with abnormal pulmonary function tests. Only anti-RSV prophylaxis exerted a protective effect in the development of recurrent wheezing.
Anales de Pediatría (English Edition)
European Respiratory Journal, Sep 1, 2011
Introduction: Nutrition supplied through enteral route is of greater benefit to preterm newborn t... more Introduction: Nutrition supplied through enteral route is of greater benefit to preterm newborn than that supplied through parenteral administration. The insertion of a nasogastric tube (NGT) can occasionally be problematic. Several methods and maneuvers have been described for difficult insertion, but all of them refered to anaesthetized or unconscious patient. We present the case of a NGT insertion assisted by a flexible bronchoscope in a preterm infant. Case report: A seven-days old female infant, born at 29 weeks gestation and 979 gr of weigh, was hospitalized in the neonatal intensive care unit (NICU) as she suffered an hyaline membrane disease. She needed mechanical ventilation and enteral nutrition through a NGT. It was not possible to introduce the NGT with the standard procedure. After repeated failures of NGT placement and a mayor complication –pneumothorax-, the neonatologist asked the paediatric pulmonology unit for help as the gastroenterology unit could not help them because their smallest gastroscope was 4.9mm diameter. We used the 2.8mm diameter bronchoscope to go through the esophagus to the stomach. Then we passed a guide through the working channel. After that we removed the bronchoscope maintaining the guide in the stomach. Finally the guide was used to introduce the NGT. We checked the NGT placement with a X-Ray and it was in the correct position. Conclusion: NGT is commonly used in NICU. Accurate tube placement is important to ensure a safe and effective enteral feeding. Literature describes misplacement of NGT including its location in the respiratory tract and pleural space, upper oesophagus, or past the pylorus. The introduction aided with an endoscopy visualization can avoid these complications.
International Journal of Neonatal Screening, 2019
Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried bloo... more Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin with measuring immunoreactive trypsinogen (IRT). Pancreatitis-associated protein (PAP) has been suggested as second-tier testing. The main objective of this study was to evaluate the analytical performance of an IRT/PAP/IRT strategy versus the current IRT/IRT strategy over a two-year pilot study including 68,502 newborns. The design of the study, carried out in a prospective and parallel manner, allowed us to compare four different CF-NBS protocols after performing a post hoc analysis. The best PAP cutoff point and the potential sources of PAP false positive results in our non-CF newborn population were also studied. 14 CF newborns were detected, resulting in an overall CF prevalence of 1/4, 893 newborns. The IRT/IRT algorithm detected all CF cases, but the IRT/PAP/IRT algorithm f...
Journal of Medical Genetics, 2001
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated wi... more A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.
Actas Dermo-Sifiliográficas, 2005
La psoriasis es un enfermedad crónica de la piel que no amenaza la vida del paciente, aunque pued... more La psoriasis es un enfermedad crónica de la piel que no amenaza la vida del paciente, aunque puede impactar en su vida diaria de forma importante. Se caracteriza por la presencia de inflamación, incremen-ESTUDIOS CLÍNICOS Y DE LABORATORIO
Nina de 3 anos de edad que acude a Urgencias por cuadro de 7 dias de evolucion caracterizado por ... more Nina de 3 anos de edad que acude a Urgencias por cuadro de 7 dias de evolucion caracterizado por fiebre, tos seca rinorrea y rechazo parcial del alimento, con decaimiento y quejido respiratorio en las ultimas 48 horas. No presenta antecedentes personales y familiares de interes clinico.
Anales de Pediatría, 2002
... Pubmed 6. Wensel R, Opitz Ch, Ewert R, Bruch L, Kleber X. Effects of iloprost inhalation on e... more ... Pubmed 6. Wensel R, Opitz Ch, Ewert R, Bruch L, Kleber X. Effects of iloprost inhalation on exercise capacity and ventilatory efficiency in patients with primary ... Blasco Alonso, J a ; López López, J a ; Conejo Muñoz, L b ; Lamas Martínez, R c ; Pérez Frías, J a ; Pérez Ruiz, E a. ...
Anales De Pediatria, 2004
El asma no es una enfermedad nueva. El proceso como síntoma se recoge ya en el papiro de Ebers (3... more El asma no es una enfermedad nueva. El proceso como síntoma se recoge ya en el papiro de Ebers (3500 a.C.), y fue Hipócrates el primero que usó esta palabra para describir una enfermedad. Maimónides es reconocido como el primer autor de una monografía sobre el proceso. Su incidencia y mortalidad siguen incrementándose en la actualidad, y el asma se ha convertido en el proceso crónico más frecuente en la infancia. Su infradiagnóstico conlleva un mal tratamiento y, como consecuencia, el incremento en su morbimortalidad. El asma se considera como una enfermedad heterogénea, con 3 factores emergentes en la primera década de la vida: alteraciones inmunológicas, infecciones del árbol respiratorio y alguna forma de interacción genética con el ambiente (alérgenos) sin que, hasta el momento, se consiga una estrategia universal para su control. Se discuten las opciones terapéuticas empleadas en el pasado y los nuevos tratamientos emergentes.
Anales De Pediatria, 2002
Sumário: 1. A noção de coisa pública como bem de todos. 2. Controle, democracia e corrupção. 3. C... more Sumário: 1. A noção de coisa pública como bem de todos. 2. Controle, democracia e corrupção. 3. Controle da Administração Pública: conceito, finalidade, natureza de poder-dever. 4. Controle das atividades do Estado e responsabilidade. 5. O princípio da dignidade da pessoa humana como critério material prioritário de aferição da legitimidade das atividades do Estado. Resumo: Este artigo é uma reflexão sobre o controle da Administração Pública a partir da noção da coisa pública como res publica, posto que imprópria sua concepção como res nullius. São também abordadas as conexões entre controle, democracia e corrupção. Trata ainda do conceito, finalidades e natureza de poderdever do controle da Administração Pública. Estabelece uma conexão entre o controle das atividades do Estado e a responsabilidade pública para se garantir um equilíbrio razoável e prudente entre os binômios: governantes e governados; poder e direitos; prerrogativas e garantias; autoridade e liberdade. Por fim, trata do princípio da dignidade humana, que é o critério prioritário de aferição da legitimidade das atividades do Estado.