Papel de la proteína asociada a pancreatitis en el cribado neonatal de la fibrosis quística / [Role of pancreatitis-associated protein in neonatal screening for cystic fibrosis]

Objetivo: El objetivo es comparar la eficacia de dos métodos de cribado de fibrosis quística (FQ) mediante la utilización de la medición del tripsinógeno inmunorreactivo (TIR) y la proteína asociada pancreatitis (PAP) en gota de sangre seca.Métodos: Estudio observacional prospectivo que evaluó a neonatos con niveles de TIR inicial (TIR1) mayor de 50ng/mL a los que se le ha realizado cuantificación de la PAP y una segunda determinación de TIR (TIR2) entre diciembre 2017 y junio 2020. Se comparó la detección de FQ entre dos protocolos de cribado TIR1/ TIR2 vs TIR1/PAP/TIR2.Resultados: Durante el período analizado se sometieron a cribado neonatal 60.399 neonatos, de los que 316 tuvieron TIR1 elevada. Se confirmaron 10 casos de FQ, con una incidencia de 1 caso por cada 6.039 neonatos cribados. El protocolo TIR1/TIR2 identificó 34 casos con una sensibilidad del 88,89%, especificidad 91,53%, valor predictivo positivo 23,53% y valor predictivo negativo de 99,65%. El protocolo TIR1/PAP/TIR2 obtuvo una sensibilidad 88,89 %, especificidad 96,42%, valor predictivo positivo 42,11% y valor predictivo negativo 99,66%. El alelo c.1521_1523delCTT se identificó en el 80% de los casos.Conclusiones: El protocolo TIR1/PAP/TIR2 aumenta la especificidad del cribado neonatal, obteniendo una disminución del 4,89% de la proporción de falsos positivos respecto al protocolo TIR1/TIR2. Este nuevo protocolo de cribado puede permitir hacer un cribado de la FQ más eficiente. (AU)

Objective: The aim is to compare the efficacy of two screening methods for cystic fibrosis (CF) by measuring immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) in dried blood spots.Methods: Prospective observational study that evaluated neonates with initial IRR levels (IRR1) greater than 50ng/mL who underwent PAP quantification and a second IRR determination (IRR2) between December 2017 and June 2020. The CF detection between two screening protocols TIR1/TIR2 vs TIR1/PAP/TIR2.Results: During the analyzed period, 60,399 neonates underwent neonatal screening, of which 316 had elevated IRR1. 10 cases of CF were confirmed, with an incidence of 1 case per 6,039 newborns screened. The TIR1/TIR2 protocol identified 34 cases with a sensitivity of 88.89%, specificity 91.53%, positive predictive value 23.53%, and negative predictive value 99.65%. The TIR1/PAP/TIR2 protocol obtained a sensitivity of 88.89%, a specificity of 96.42%, a positive predictive value of 42.11%, and a negative predictive value of 99.66%. The c.1521_1523delCTT allele was identified in 80% of cases.Conclusions: The TIR1/PAP/TIR2 protocol increases the specificity of neonatal screening, obtaining a 4.89% decrease in the proportion of false positives compared to the TIR1/TIR2 protocol. This new screening protocol may allow CF screening to be more efficient. (AU)

Cetoacidosis diabética en adolescente con fibrosis quística / Diabetic ketoacidosis in adolescent with cystic fibrosis

La dificultad respiratoria aguda en pacientes con fibrosis quística puede deberse a causas metabólicas. La alteración del metabolismo hidrocarbonado es una complicación frecuente en estos pacientes. La diabetes relacionada con la fibrosis quística se debe a una disminución en la secreción de insulina secundaria a la insuficiencia pancreática como causa primaria; sin embargo, el tratamiento glucocorticoideo y otros factores (desnutrición, disfunción hepática, infecciones, etc.) pueden intervenir creando resistencia a la insulina. Es imprescindible establecer un control glucémico en las exacerbaciones respiratorias y en pacientes tratados con fármacos hiperglucemiantes como, por ejemplo, los glucocorticoides orales en la aspergilosis broncopulmonar alérgica

Acute respiratory distress in patients with cystic fibrosis may be due to metabolic causes and the alteration of the hydrocarbon metabolism is a frequent complication in these patients. Cystic fibrosis-related diabetes is due to a decrease in insulin secretion secondary to pancreatic insufficiency as the primary cause; however, glucocorticoid treatment and other factors (malnutrition, hepatic dysfunction, infections...) can intervene by creating insulin resistance. Glycemic control is essential in respiratory exacerbations and in patients treated with hyperglycemic drugs, for example oral glucocorticoids as a treatment of allergic bronchopulmonary aspergillosis

Valoración de la posible transmisión intrafamiliar de bacterias que colonizan a los pacientes con fibrosis quística / Assessment of possible intra-family transmission of bacteria that colonize patients with cystic fibrosis

INTRODUCCIÓN: En la Fibrosis Quística (FQ), la patología broncopulmonar es la más representativa y grave en todo el espectro de la enfermedad, causada principalmente por la colonización persistente de la vía aérea por bacterias con capacidad patogénica. Su control es fundamental para mejorar el pronóstico de estos pacientes. Conocer las fuentes de infección en estos casos permitiría diseñar mejores estrategias para su prevención. OBJETIVOS: Evaluar, en el entorno familiar de pacientes con FQ, la posible transmisión de bacterias que frecuentemente colonizan las vías respiratorias, como Pseudomonas aeruginosa y Streptococcus pneumoniae. MATERIAL Y MÉTODO: Se incluyeron un total de 10 pacientes con FQ y 15 familiares convivientes, de los que se tomaron muestras de esputo y frotis orofaríngeo respectivamente. En ellos se trataron de identificar bacterias mediante técnicas de metagenómica (PCR- DGGE del gen 16S-rRNA para bacterias) y de ampliación de ácidos nucleicos. RESULTADOS: Los resultados del estudio de metagenómica mostraron la presencia de diferentes bacterias en todos los pacientes evaluados, siendo las más frecuentes Pseudomonas spp. (n=9), Streptococcus spp. (n=4), Staphylococcus spp. (n=2) y Haemophilus influenzae (n=2). En los familiares se identificó por PCR Pseudomona aeruginosa en el 46,5% de los casos y S. pneumoniae en el 66,7%. La concordancia entre familiares y pacientes fue del 40% para P. aeruginosa, con coincidencia de genotipos del 100% y una concordancia del 20% para S. pneumoniae. CONCLUSIONES: La presencia de bacterias que frecuentemente colonizan el tracto respiratorio de los pacientes con fibrosis quística es frecuente entre los familiares que cohabitan con ellos, lo que podría facilitar la transmisión de unos sujetos a otros y la persistencia de éstas en el entorno familiar

INTRODUCTION: In Cystic Fibrosis (CF), bronchial-pulmonary pathology is the most representative and serious within the scope of this disease, and generally caused by the persistent colonization of the airways by pathogenic bacteria. Control is essential to improve the prognosis of these patients. In these cases, understanding the source of infection would facilitate the design of improved prevention strategies. OBJECTIVES: Assess, within the family environment of patients with CF, the possible transmission of bacteria that frequently colonize airways, such as Pseudomonas aeruginosa and Streptococcus pneumoniae. MATERIAL AND METHODS: Ten patients with CF were included in this study, as well as 15 cohabiting relatives, from whom sputum samples and oropharyngeal smears were taken respectively. Using metagenomics, the bacteria were identified (PCR- DGGE of the gene16S-rRNAfor bacteria) and the expanding of nucleic acids. RESULTS: The results of the metagenomic study proved the presence of various bacteria in all patients assessed, with the most frequent being Pseudomonas spp. (n=9), Streptococcus spp. (n=4), Staphylococcus spp. (n=2) and Haemophilus influenzae (n=2). Using PCR in the relatives, P. aeruginosa was identified in 46.5% of the cases, and S. pneumoniae in 66.7%. Consistency between relative and patient was 40% for P. aeruginosa, with a 100% genotype coincidence and a 20% consistency for S. pneumoniae. CONCLUSIONS: The presence of bacteria that frequently colonize the respiratory tract in patients with cystic fibrosis is recurrent among relatives cohabiting with them, which could facilitate the transmission of bacteria from one person to another and the persistence of said bacteria within the family environment

Screeening neonatal de fibrosis quística: ventajas e inconvenientes. Situación actual en Andalucía Occidental / Current status of the cystic fibrosis newborn screening program in Western andalusia (Spain)

La fibrosis quística (FQ) es la enfermedad genética grave, con herencia autosómica recesiva, más frecuentemente en la población de origen caucásico, con una incidencia de 1 en 2.000-6.000 nacimientos. La esperanza de vida ha aumentado considerablemente, situándose actualmente cercana a los 40 años. Esto es debido a una serie de factores entre los que se encuentra la implantación del cribado neonatal (SNFQ). Actualmente el diagnóstico sintomático de los niños con FQ en nuestro país es raro, gracias al establecvimiento de diferentes programas de screening neonatal, cuyas ventajas están claramente establecidas, destacando el mejor estado nutriciona, mejor función pulmonar y, consecuentemente, mayor supervivencia de los pacientes diagnosticados presintomáticamente. Pese a que el SNFQ está ampliamente aceptado, no existe una única estrategia de screening universalemente aceptada, existiendo en la actualidad 26 programas de SNFQ diferentes. Todos se basan en dos o tres pasos, siendo el primer escalón en todos ellos la cuantificación de tripsinógeno inmunorreactivo (TIR) en muestras de sangre seca que se encuentra elevado como consecuencia de la obstrucción de los conductos pancreáticos. Presentamos los resultados del screening neonatal en Andalucía occidental tras tres años de implantación del mismo (AU)

Cystic fibrosis (CF) is the most common severe genetic disease in the caucasian population,with a recessive autosomal inheritance and with an estimated incidence of 1 in 2,000-6,000 births. Life expectancy has greatly increased and now stands close to 40 years. This is because a number of factors including the implementation of newborn screeening (NS) programs. Currently the diagnosis of symptomatic children with CF is rare in our country due to different wxisting CF NS programs whose benefits are clearly esetablished: improved nutritional status, better lung function and consequently increased survival of patients who had a presymptomatic diagnosis. Although the NS is widely accepted, no single universally screening strategy has been fully accepted and as much as 26 different NS exist today. They are all based on two or three steps; the frst step determines immunireactive trypsinogen (IRT) levels in dried blood, resultls of the NS. We present the results of the CF NS program in western Andalusia that was implemented three years ago (AU)

Successful management of Churg-Strauss syndrome using omalizumab as adjuvant immunomodulatory therapy: first documented pediatric case.

Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it is extremely rare in childhood and defined according to the Chapel-Hill Consensus as an eosinophil-rich and granulomatous inflammation involving the respiratory tract and necrotizing vasculitis affecting small to medium-sized vessels. Children commonly have a history of asthma and sinusitis whilst clinical presentation typically involves pulmonary tract and less frequently skin, heart, gastrointestinal tract, and peripheral nerves. Cardiopulmonary disease is higher in children and prognosis is worse. It is associated with significant eosinophilia and raised serum IgE-levels. ANCA are only found in 25% of childhood cases. Here we report the case of a 10-year-old girl who presented to us with vomiting, abdominal pain, and weight loss, paresthesias of lower extremities and breathlessness as well as a history of asthma, sinusitis and allergic rhinitis. She was treated with corticosteroids, cyclophosphamide, intravenous immunoglobulin, mycophenolate mofetil (MMF), and rituximab. However, remission was only achieved after initiation of omalizumab therapy, a recombinant humanized anti-IgE antibody. To the best of our knowledge this is the first pediatric patient suffering from CSS successfully managed with adjuvant anti-IgE therapy resulting in the control of respiratory as well as gastrointestinal symptoms.

Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa / Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency

La lectina de unión a la manosa (mannose-binding lectin [MBL]) es una proteína sérica perteneciente al sistema inmunitario innato. Se une a los azúcares de las membranas de múltiples microorganismos, favoreciendo su opsonización y eliminación. El déficit de MBL resulta del polimorfismo del gen MBL2 y se asocia a una amplia variedad de infecciones recurrentes, incluidas las infecciones del tracto respiratorio. Presentamos un caso de displasia ectodérmica anhidrótica asociada a un déficit de MBL, inmunodeficiencia nunca descrita en pacientes afectados de displasia ectodérmica anhidrótica(AU)

Mannose-binding lectin (MBL) is a serum protein of the innate immune system.MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens.MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia(AU)

[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency]. / Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa.

Mannose-binding lectin (MBL) is a serum protein of the innate immune system. MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens. MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia.

Clínica, diagnóstico y tratamiento de las estenosis traqueales / Clinic, diagnosis and treatment of tracheal stenosis

Introducción: En los últimos años se han desarrollado nuevas técnicas para el tratamiento de las estenosis traqueales (ET). El objetivo del presente estudio es analizar la clínica, el tratamiento y la evolución de las ET que se diagnosticaron en este hospital entre enero de 2004 y agosto de 2007. Material y métodos: Revisión de historias clínicas con análisis de edad al diagnóstico, clínica, enfermedad de base, antecedentes de ventilación mecánica, grado de estenosis, técnica diagnóstica, tratamiento y evolución. Resultados: Se encontraron 16 casos de ET, 2 congénitas y 14 adquiridas. La edad media de diagnóstico fue de 8,8 meses (de 23 días a 2,5 años). Catorce pacientes estuvieron intubados (de 3 a 44 días). Los síntomas guías fueron estridor inspiratorio (44%), dificultad para intubar o extubar (28%) y laringotraqueítis de repetición (39%). Tres pacientes se trataron con láser de dióxido de carbono y tuvieron múltiples reestenosis y reintervenciones. Tres pacientes se trataron con split cricotiroideo y traqueoplastia con cartílago costal. Un paciente se trató con traqueoplastia deslizante. En 5 pacientes con escasos síntomas y ET leve se adoptó actitud expectante. A un paciente con membrana traqueal se le realizó resección y anastomosis terminoterminal. A un paciente se le realizó resección cricotraqueal parcial y tuvo 3 reestenosis. Dos pacientes presentaron un anillo vascular que se trató quirúrgicamente. Conclusiones: Los pacientes asintomáticos pueden recibir una actitud expectante. La resección y anastomosis terminoterminal es la técnica de elección de las estenosis de corta longitud. En las ET de gran longitud, la traqueoplastia deslizante muestra buenos resultados con escasa morbimortalidad (AU)

Introduction: New surgical techniques have been developed for treatment of tracheal stenosis (TS) over the last few years. The aim of the present study is to examine the clinical, therapeutic characteristics and progress of the cases of TS diagnosed in our hospital from January 2004 to August 2007. Methods: We have reviewed the clinical history, focusing on age at diagnosis, clinical signs and symptoms, baseline pathology, previous history of mechanical ventilation, degree of stenosis, diagnostic technique, treatment and progress. Results: A total of 16 cases were found, (2 congenital and 14 acquired). Mean age at diagnosis was 8.8 months (23 days-2.5 years). Of these, 14 patients had been intubated (3–44 days). Clinical suspicion was prompted by inspiratory stridor (44%), difficulty to be extubated or intubated (28%) and recurrent laryngotracheitis (39%). Three patients received CO2 laser therapy and suffered a high number of restenosis and required re-interventions. Three patients underwent costal cartilage tracheoplasty and tracheal-cricoid split, showing a good prognosis and one patient underwent a slide tracheoplasty. Five patients with only a few clinical signs and mild stenosis, were managed on a wait and see basis. One patient with tracheal membrane underwent resection of the stenosed portion and end-to-end anastomosis with favourable progres. Another patient had a partial cricotracheal resection but suffered three restenoses. Two patients underwent surgical correction of the vascular ring. Conclusions: Asymptomatic patients may receive conservative therapy. In the case of short-segment stenosis, resection and end-to-end anastomosis is the therapy of choice and the long-segment stenosis has obtained good results by means of slide tracheoplasty, which involved no deaths and a very low morbidity (AU)

[Clinic, diagnosis and treatment of tracheal stenosis]. / Clínica, diagnóstico y tratamiento de las estenosis traqueales.

INTRODUCTION: New surgical techniques have been developed for treatment of tracheal stenosis (TS) over the last few years. The aim of the present study is to examine the clinical, therapeutic characteristics and progress of the cases of TS diagnosed in our hospital from January 2004 to August 2007. METHODS: We have reviewed the clinical history, focusing on age at diagnosis, clinical signs and symptoms, baseline pathology, previous history of mechanical ventilation, degree of stenosis, diagnostic technique, treatment and progress. RESULTS: A total of 16 cases were found, (2 congenital and 14 acquired). Mean age at diagnosis was 8.8 months (23 days-2.5 years). Of these, 14 patients had been intubated (3-44 days). Clinical suspicion was prompted by inspiratory stridor (44%), difficulty to be extubated or intubated (28%) and recurrent laryngotracheitis (39%). Three patients received CO(2) laser therapy and suffered a high number of restenosis and required re-interventions. Three patients underwent costal cartilage tracheoplasty and tracheal-cricoid split, showing a good prognosis and one patient underwent a slide tracheoplasty. Five patients with only a few clinical signs and mild stenosis, were managed on a wait and see basis. One patient with tracheal membrane underwent resection of the stenosed portion and end-to-end anastomosis with favourable progress. Another patient had a partial cricotracheal resection but suffered three restenoses. Two patients underwent surgical correction of the vascular ring. CONCLUSIONS: Asymptomatic patients may receive conservative therapy. In the case of short-segment stenosis, resection and end-to-end anastomosis is the therapy of choice and the long-segment stenosis has obtained good results by means of slide tracheoplasty, which involved no deaths and a very low morbidity.

Himen imperforado como causa infrecuente de dolor abdominal recurrente / Unperforated hymen as an uncommon cause of recurrent abdominal pain

No disponible

Herpes zoster en un paciente con enfermedad de Crohn en tratamiento con azatioprina / Herpes zoster in a patient with Crohn´s disease being treated with azathioprine

La azatioprina (AZA) y su metabolito activo, la 6-mercaptopurina(6-MP), son los fármacos inmunomoduladores más utilizados en la enfermedad de Crohn (EC). Son bien tolerados, pero no están exentos de efectos secundarios potencialmente graves, como las complicaciones infecciosas que ocurren varios meses después del inicio del tratamiento. El herpes zoster es infrecuente en pacientes con EC en tratamiento con AZA o 6-MP, con una incidencia del 2-3%. No hay casos descritos de herpes zoster en pacientes con EC sin tratamiento inmunomodulador. Ante un caso de herpes zoster, la actitud podría ser iniciar tratamiento con aciclovir tan pronto como aparezcan las lesiones y suspender el tratamiento inmunomodulador durante 2-3 semanas hasta que se conozca la verdadera virulencia del virus de la varicela zoster

Azathioprine (AZA) and its active metabolite 6-mercaptopurine(6-MP) are the most widely used immunomodulatory drugs in Crohn's disease. They are well tolerated, although they do have potentially serious side effects. Complications in the form of infections occur several months after the start of treatment. Herpes zoster infection, although uncommon in Crohn's disease patients treated with AZA or 6-MP, can occur, the incidence being 2% to 3%. There have been no reports of herpes zoster infection in Crohn's disease p tients who were not being treated with immunomodulatory drugs. In the case of Crohn's disease patients infected with herpes zoster, the recommended treatment is administration of acyclovir and cessation of immunomodulatory therapy for 2 to 3 weeks until the true virulence of the virus is known