Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.

BACKGROUND: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level. CASE REPORTS: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed. CONCLUSIONS: Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.

INTRODUCCIÓN: El síndrome de Rothmund-Thomson, también conocido como poiquilodermia congénita, es una rara genodermatosis autosómica recesiva de inicio en la infancia temprana y afectación multisistémica. CASOS CLÍNICOS: Se describen dos casos de pacientes con síndrome de Rothmund-Thomson. Caso 1. Paciente de sexo masculino de 4 años de edad, padres consanguíneos, hermano de 26 años con diagnóstico probable de síndrome de Rothmund-Thompson. Presentó adactilia del pulgar derecho, hipoplasia de pulgar izquierdo, retraso en el crecimiento y retraso del desarrollo psicomotor. A los 3 meses de edad mostraba pelo áspero, seco y escaso, y lesiones eritematosas en la cara, las cuales dejaron manchas hiperpigmentadas e hipopigmentadas con patrón reticulado. Se detectaron hipoacusia, alteraciones esqueléticas, mentón estrecho, talla baja, desnutrición grave e hipodontia crónica y asintomática. La secuenciación genética resultó con mutación para el gen RECQL4, por lo que se dio seguimiento multidisciplinario por los servicios de genética, gastroenterología, nutrición, endocrinología, estomatología, audiología, ortopedia, rehabilitación, oftalmología y oncología. Caso 2. Paciente de sexo femenino de 2 años de edad que a los 3 meses de vida inició con eritema facial que se diseminó a los brazos y la piernas; la biopsia de piel reportó poiquilodermia. Se encuentra en seguimiento por el servicio de endocrinología por talla baja e hipogonadismo. No se realizó estudio genético. CONCLUSIONES: El síndrome de Rothmund-Thomson se caracteriza por atrofia. Existen pocos casos reportados en la literatura. Se presentan dos casos de síndrome de Rothmund-Thomson, enfatizando sus características clínicas y dermatológicas.

COVID-19 (SARS-CoV-2) lymphocyte responses are associated with inflammatory biomarkers in total joint replacement surgery candidates pre-operatively.

BACKGROUND: Recent studies indicate that, in addition to antibody production, lymphocyte responses to SARS-CoV-2 may play an important role in protective immunity to COVID-19 and a percentage of the general population may exhibit lymphocyte memory due to unknown/asymptomatic exposure to SARS-CoV-2 or cross-reactivity to other more common coronaviruses pre-vaccination. Total joint replacement (TJR) candidates returning to elective surgeries (median age 68 years) may exhibit similar lymphocyte and/or antibody protection to COVID-19 prior to vaccination METHODS: In this retrospective study, we analyzed antibody titters, lymphocyte memory, and inflammatory biomarkers specific for the Spike and Nucleocapsid proteins of the SARS-CoV-2 virus in a cohort of n=73 returning TJR candidates (knees and/or hips) pre-operatively. RESULTS: Peripheral blood serum of TJR candidate patients exhibited a positivity rate of 18.4% and 4% for IgG antibodies specific for SARS-CoV-2 nucleocapsid and spike proteins, respectively. 13.5% of TJR candidates exhibited positive lymphocyte reactivity (SI > 2) to the SARS-CoV-2 nucleocapsid protein and 38% to the spike protein. SARS-CoV-2 reactive lymphocytes exhibited a higher production of inflammatory biomarkers (i.e., IL-1ß, IL-6, TNFα, and IL-1RA) compared to non-reactive lymphocytes. CONCLUSIONS: A percentage of TJR candidates returning for elective surgeries exhibit pre-vaccination positive SARS-CoV-2 antibodies and T cell memory responses with associated pro-inflammatory biomarkers. This is an important parameter for understanding immunity, risk profiles, and may aid pre-operative planning. TRIAL REGISTRATION: Retrospectively registered.

Mucus hypersecretion in asthma is associated with rhinosinusitis, polyps and exacerbations.

BACKGROUND: Bronchial hypersecretion is a poorly studied symptom in asthma. The aim of the study was to determine the specific characteristics of asthmatics with bronchial hypersecretion. METHODS: A total of 142 asthmatics (21.8% men; mean age 49.8 years) were prospectively followed for one year. Mucus hypersecretion was clinically classified into two severity categories: daily sputum production and frequent expectoration but not every day. Clinical and pulmonary function variables associated with mucus hypersecretion were assessed by multiple logistic regression analysis. RESULTS: Daily cough was recorded in 28.9% of patients and sputum production daily or most of the days in 52.1%. Patients with mucus hypersecretion had more dyspnoea, poorer asthma control and quality of life, had suffered from more exacerbations and showed anosmia associated with chronic rhinosinusitis and nasal polyposis more frequently. Factors associated to mucus hypersecretion were anosmia, one exacerbation or more in the previous year and FEV1/FVC <70% (AUC 0.75, 95% CI 0.66-0.85) for the first definition of hypersecretion, and anosmia, poor asthma control and age (AUC 0.75, 95% CI 0.67-0.83) for the second definition. CONCLUSIONS: Mucus hypersecretion is frequent in patients with asthma, and is associated with chronic upper airways disease, airway obstruction, poor asthma control and more exacerbations.

Etiología de las bronquiectasias en una cohorte de 2.047 pacientes. Análisis del registro histórico español / Etiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry

Introducción: Las bronquiectasias son la consecuencia final de múltiples patologías. Establecer la etiología tiene implicaciones clínicas y pronósticas. El objetivo fue evaluar la etiología de las bronquiectasias en una amplia muestra de pacientes, su posible relación con factores demográficos, clínicos o de gravedad, así como analizar las diferencias entre las idiopáticas, las postinfecciosas y las debidas a otras causas. Métodos: Estudio multicéntrico, transversal, del Registro Histórico Español de la SEPAR (RHEBQ-SEPAR). Se incluyeron prospectivamente pacientes adultos con bronquiectasias seguidos por neumólogos. Para el estudio etiológico se siguieron las recomendaciones y pruebas diagnósticas protocolizadas en el registro que posteriormente fueron recogidas en la normativa SEPAR de bronquiectasias. Resultados: Se analizaron 2.047 pacientes de 36 centros españoles. La edad media fue de 64,9 años y el 54,9% fueron mujeres. La etiología se identificó en el 75,8% de los casos (postinfecciosa: 30%; fibrosis quística: 12,5%; inmunodeficiencias: 9,4%; EPOC: 7,8%; asma: 5,4%; discinesia ciliar: 2,9%, y enfermedades sistémicas: 1,4%). Las distintas etiologías presentaban diferencias demográficas, clínicas y microbiológicas. Las bronquiectasias postinfecciosas y las secundarias a EPOC y asma presentaban más riesgo de tener peor función pulmonar. Los pacientes con bronquiectasias postinfecciosas eran mayores y se diagnosticaban más tarde. Las bronquiectasias idiopáticas predominaban en mujeres no fumadoras y se asociaban a mejor función pulmonar, mayor índice de masa corporal y menor frecuencia de infección por Pseudomonas aeruginosa que las de causa conocida. Conclusiones: La etiología de las bronquiectasias se ha identificado en una gran proporción de los pacientes incluidos en el RHEBQ-SEPAR. Se pueden reconocer diferentes fenotipos relacionados con las distintas causas (AU)

Introduction: Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. Methods: Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR). Adult patients with bronchiectasis followed by pulmonologists were included prospectively. Etiological studies were based on guidelines and standardized diagnostic tests included in the register, which were later included in the SEPAR guidelines on bronchiectasis. Results: A total of 2,047 patients from 36 Spanish hospitals were analyzed. Mean age was 64.9 years and 54.9% were women. Etiology was identified in 75.8% of cases (post-Infection: 30%; cystic fibrosis: 12.5%; immunodeficiencies: 9.4%; COPD: 7.8%; asthma: 5.4%; ciliary dyskinesia: 2.9%, and systemic diseases: 1.4%). The different etiologies presented different demographic, clinical, and microbiological factors. Post-infectious bronchiectasis and bronchiectasis caused by COPD and asthma were associated with an increased risk of poorer lung function. Patients with post-infectious bronchiectasis were older and were diagnosed later. Idiopathic bronchiectasis was more common in female non-smokers and was associated with better lung function, a higher body mass index, and a lower rate of Pseudomonas aeruginosa than bronchiectasis of known etiology. Conclusions: The etiology of bronchiectasis was identified in a large proportion of patients included in the RHEBQ-SEPAR registry. Different phenotypes associated with different causes could be identified (AU)

Inflammation and Oxidation Biomarkers in Patients with Cystic Fibrosis: The Influence of Azithromycin.

OBJECTIVE: In addition to their antibiotic effect, macrolides appear to modulate the inflammatory response in cystic fibrosis (CF) and could influence oxidative stress. The objective of this study was to assess oxidation biomarkers and levels of inflammation and to determine whether there is an association between these parameters and the intake of macrolides. MATERIALS AND METHODS: The subjects included in this cross-sectional study were, on the one hand, clinically stable patients with CF and, on the other, healthy controls. The following serum and plasma inflammatory and oxidative stress biomarkers were measured: interleukin-6 (IL-6), reactive C protein (RCP), tumor necrosis alpha (TNF-α), glutathione peroxidase (GPx), total antioxidant capacity (TAC), catalase (CAT), and superoxide dismutase (SOD), together with markers of lipid peroxidation (8-isoprostanes and thiobarbituric acid reactive substances [TBARS]). Clinical, anthropometric, lung function, radiological, and analytical variables (albumin, prealbumin, vitamins, and zinc) were also recorded. RESULTS: We studied 36 adults with CF and 41 controls. No differences were observed in age, gender, or anthropometric variables. The patients had significantly higher levels of IL-6, TNF-α, RCP, TBARS, and isoprostanes, and lower levels of SOD than the controls. Twenty-three of the patients were treated with azithromycin, and they had more severe clinical and radiological parameters than those who were not but nevertheless presented significantly lower levels of TNF-α. No differences were observed in the markers of oxidation. CONCLUSION: Inflammation and oxidation biomarkers were increased in patients with CF compared with controls. The use of azithromycin was associated with reduced TNF-α levels and did not influence oxidation parameters.

Accreditation of specialized asthma units for adults in Spain: an applicable experience for the management of difficult-to-control asthma.

This paper, developed by consensus of staff physicians of accredited asthma units for the management of severe asthma, presents information on the process and requirements for already-existing asthma units to achieve official accreditation by the Spanish Society of Pneumology and Thoracic Surgery (SEPAR). Three levels of specialized asthma care have been established based on available resources, which include specialized units for highly complex asthma, specialized asthma units, and basic asthma units. Regardless of the level of accreditation obtained, the distinction of "excellence" could be granted when more requirements in the areas of provision of care, technical and human resources, training in asthma, and teaching and research activities were met at each level. The Spanish experience in the process of accreditation of specialized asthma units, particularly for the care of patients with difficult-to-control asthma, may be applicable to other health care settings.

Etiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry. / Etiología de las bronquiectasias en una cohorte de 2.047 pacientes. Análisis del registro histórico español.

INTRODUCTION: Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. METHODS: Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR). Adult patients with bronchiectasis followed by pulmonologists were included prospectively. Etiological studies were based on guidelines and standardized diagnostic tests included in the register, which were later included in the SEPAR guidelines on bronchiectasis. RESULTS: A total of 2,047 patients from 36 Spanish hospitals were analyzed. Mean age was 64.9years and 54.9% were women. Etiology was identified in 75.8% of cases (post-Infection: 30%; cystic fibrosis: 12.5%; immunodeficiencies: 9.4%; COPD: 7.8%; asthma: 5.4%; ciliary dyskinesia: 2.9%, and systemic diseases: 1.4%). The different etiologies presented different demographic, clinical, and microbiological factors. Post-infectious bronchiectasis and bronchiectasis caused by COPD and asthma were associated with an increased risk of poorer lung function. Patients with post-infectious bronchiectasis were older and were diagnosed later. Idiopathic bronchiectasis was more common in female non-smokers and was associated with better lung function, a higher body mass index, and a lower rate of Pseudomonas aeruginosa than bronchiectasis of known etiology. CONCLUSIONS: The etiology of bronchiectasis was identified in a large proportion of patients included in the RHEBQ-SEPAR registry. Different phenotypes associated with different causes could be identified.

Determination of glutaredoxin enzyme activity and protein S-glutathionylation using fluorescent eosin-glutathione.

Glutaredoxins catalyze glutathione-dependent disulfide oxidoreductions, particularly reduction of glutathione (GSH)-protein mixed disulfides. Mammalian glutaredoxins are present in the cytosol/nucleus as Grx1 or in mitochondria as Grx2a. Here we describe di-eosin-glutathione disulfide (Di-E-GSSG) as a new tool to study glutaredoxin (Grx) activity. Di-E-GSSG has almost no fluorescence in its disulfide form due to self-quenching, whereas the reduced form (E-GSH) has a large fluorescence emission at 545 nm after excitation at 520 nm. Di-E-GSSG was a very poor substrate for glutathione reductase, but we discovered that the molecule was an excellent substrate for glutaredoxin in a coupled assay system with GSH, nicotinamide adenine dinucleotide phosphate (NADPH), and glutathione reductase or with lipoamide, NADH, and lipoamide dehydrogenase. In addition, Di-E-GSSG was used to glutathionylate the free SH group of bovine serum albumin (BSA), yielding eosin-glutathionylated BSA (E-GS-BSA) readily observed in ultraviolet (UV) light. E-GS-BSA also displayed a quenched fluorescence, and its Grx-catalyzed reduction could be followed by the formation of E-GSH by fluorescence emission using microtiter plates. This way of measuring Grx activity provided an ultrasensitive method that detected Grx1 and Grx2 at picomolar levels. Human Grx1 was readily quantified in 40 µl of plasma and determined to be 680 ± 208 pM in healthy controls.

Grado de conocimiento de las propias sensibilizaciones alérgicas en pacientes asmáticos y su repercusión en el nivel de control del asma / Knowledge of Their Own Allergic Sensitizations in Asthmatic Patients and Its Impact on the Level of Asthma Control

Introducción: Las guías clínicas de asma recomiendan la adopción de conductas de evitación alergénica. Para poder adoptarlas, los pacientes deben conocer las alergias que tienen. Sin embargo, este grado de conocimiento no ha sido hasta ahora evaluado. Los objetivos principales del estudio fueron determinar, en pacientes con asma alérgica: a) el grado de conocimiento de sus propias sensibilizaciones alérgicas; b) el porcentaje que conocen todas sus alergias y que, además, siguen normas de evitación alergénica (NEA) frente a todas ellas, y c) el eventual impacto de dicho grado de conocimiento sobre el nivel de control del asma. Pacientes y métodos: Estudio descriptivo, prospectivo y multicéntrico, con inclusión de 147 pacientes reclutados en 9 consultas externas de neumología. Tras verificar el diagnóstico previo de asma alérgica, se cumplimentó un cuestionario registrando los niveles de control y gravedad del asma, los resultados de los estudios de alergia previos, y la descripción y el número de sensibilizaciones alérgicas conocidas por el paciente y de NEA seguidas. Resultados: Tan solo 72 (49%) pacientes conocían todas sus sensibilizaciones alérgicas y únicamente 48 (33%) seguían, además, NEA frente a todos los alérgenos a los que eran alérgicos. No se demostró que existiera ninguna relación entre el grado de conocimiento de las propias sensibilizaciones alérgicas y el nivel de control del asma (p = 0,544). Conclusiones: El conocimiento global acerca de la naturaleza alérgica de su enfermedad, entre los pacientes asmáticos visitados en los servicios de neumología españoles, es insuficiente. Además, un adecuado conocimiento de las propias alergias no parece repercutir, por sí solo, en un mejor control del asma. Todo ello parece cuestionar la eficacia de las estrategias educativas actuales en este campo y, en consecuencia, estas deberían revisarse (AU)

Background: Asthma guidelines recommend the adoption of allergen avoidance measures (AAM). To do so, patients need to know their own allergies. However, this degree of knowledge has not yet been assessed. The aims of this study were to determine, in allergic asthma patients: (I) the degree of knowledge of their own allergic sensitizations; (II) the percentage of those who knew all their allergies and, in addition, adopted AAM against all of them, and (III) the possible impact of this degree of knowledge on the level of asthma control. Patients and methods: Descriptive, prospective and multicentre study, including 147 patients from 9 Respiratory Medicine outpatient clinics. After confirming the previous allergic asthma diagnosis, a questionnaire was completed. It included asthma control and severity levels, results of previous allergy tests, and the description and number of allergic sensitizations known by the patients and AAM followed. Results: Only 72 (49%) patients knew all their allergic sensitizations and only 48 (33%) were also following AAM against all the allergens to which they were allergic. No relationship was established between the degree of knowledge of their own allergies and the level of asthma control (P=0.544). Conclusions: Overall knowledge about the allergic nature of their disease among asthmatic patients attending Spanish Respiratory Medicine Departments is inadequate. Furthermore, a higher degree of knowledge of their allergies does not seem to lead, by itself, to better asthma control. Both findings seem to question the effectiveness of current educational strategies in this field and consequently, and they should be revised (AU)

Knowledge of their own allergic sensitizations in asthmatic patients and its impact on the level of asthma control.

BACKGROUND: Asthma guidelines recommend the adoption of allergen avoidance measures (AAM). To do so, patients need to know their own allergies. However, this degree of knowledge has not yet been assessed. The aims of this study were to determine, in allergic asthma patients: i)the degree of knowledge of their own allergic sensitizations; ii)the percentage of those who knew all their allergies and, in addition, adopted AAM against all of them, and iii)the possible impact of this degree of knowledge on the level of asthma control. PATIENTS AND METHODS: Descriptive, prospective and multicentre study, including 147patients from 9 Respiratory Medicine outpatient clinics. After confirming the previous allergic asthma diagnosis, a questionnaire was completed. It included asthma control and severity levels, results of previous allergy tests, and the description and number of allergic sensitizations known by the patients and AAM followed. RESULTS: Only 72 (49%) patients knew all their allergic sensitizations and only 48 (33%) were also following AAM against all the allergens to which they were allergic. No relationship was established between the degree of knowledge of their own allergies and the level of asthma control (P=.544). CONCLUSIONS: Overall knowledge about the allergic nature of their disease among asthmatic patients attending Spanish Respiratory Medicine Departments is inadequate. Furthermore, a higher degree of knowledge of their allergies does not seem to lead, by itself, to better asthma control. Both findings seem to question the effectiveness of current educational strategies in this field and consequently, they should be revised.

Omalizumab therapy in severe asthma: experience from the Spanish registry--some new approaches.

OBJECTIVE: The efficacy of omalizumab in severe asthma has been widely demonstrated. The main objective of this study was to evaluate the efficacy and tolerability of omalizumab in a real-life setting in Spain, particularly in those patients with immunoglobulin E (IgE) levels out of range. METHODS: Totally 266 uncontrolled severe asthma patients receiving high-dose inhaled corticosteroids (ICSs) plus long-acting ß2-agonist (LABA) were recruited. Main efficacy outcomes were asthma exacerbation rate (AER), asthma control test (ACT), and global evaluation of treatment effectiveness (GETE). RESULTS: AER was reduced from 3.6 (3.6) in previous year to 0.67 (1.2) at 4 months (p < .05) and to 1.04 (1.8) at 2 years (p < .05). ACT increased significantly from 14.3 (4.7) at baseline to 18.4 (4.4) at 4 months (p < .05) and to 20.3 (4.0) (p < .05) at 2 years. After 4 months, 74.6% of patients had reached a good or excellent rate on the GETE scale (p < .05). This rate continued increasing up to 81.6% at 2 years. These efficacy results were similar for patients with "off-label" IgE > 700 IU/ml. At follow-up, maintenance treatment with oral steroids was discontinued in a considerable number of patients: from 89 to 19 (p < .05). Omalizumab was discontinued because of lack of efficacy only in 28/266 (10.5%) patients. Overall, 30 patients (11.4%) reported adverse events. Severe adverse events were not observed. CONCLUSION: This real-life study confirms that omalizumab is very efficacious and very well tolerated in patients with uncontrolled severe asthma. Results did not vary in the subgroup of patients with IgE levels >700 IU/ml.

Markers for the validation of reported dietary intake in adults with cystic fibrosis.

OBJECTIVE: To identify different markers in order to validate the assessment of dietary intake in adults with cystic fibrosis (CF). DESIGN: Cross-sectional survey. SETTING: Tertiary care. SUBJECTS: We assessed 37 adults with CF whose nutritional and respiratory condition was stable and 37 healthy adults, matched for age, sex, and nutritional status. INTERVENTIONS: A consecutive, 7-day, prospective dietary survey was given to all the participants. Anthropometric variables were measured and a fasting blood sample was drawn to measure the composition of the serum phospholipid fatty acids by gas chromatography. We also measured fecal fat and nitrogen at 72 hours and 24-hour urine nitrogen. RESULTS: The ratio of energy intake to basal metabolic rate expenditure was significantly greater in the patients (2.1+/-0.4) than the controls (1.79+/-0.4) and the percentage of patients with the ratio of energy intake to basal metabolic rate lower than 1.55 was 24% in the controls (n=9) vs 8% in the patients (n=3). Fecal nitrogen correlated significantly with total energy and the intake of carbohydrates, lipids, and proteins. In the patients, total dietary energy and fat and protein intake correlated positively with fecal fat. The protein and fat intake and fecal nitrogen and fat correlated significantly with urine nitrogen. In the controls, significant correlations were seen between different parameters of intake and the percentage of certain serum phospholipid fatty acids. These correlations in the patients were either absent or less marked. CONCLUSIONS: Use in persons with CF of the energy intake to basal metabolic rate ratio, measurement of fecal fat and nitrogen at 72 hours and of urine nitrogen may be useful to validate dietary surveys. The serum phospholipid fatty acid profile, however, may be less useful for this purpose in these patients.

[Validity and reliability of the St George's Respiratory Questionnaire in adults with cystic fibrosis]. / Validez y fiabilidad del Cuestionario Respiratorio de St. George en población adulta con fibrosis quística.

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 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 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 also have an appropriate intern consistency.

Validez y fiabilidad del Cuestionario Respiratorio de St. George en población adulta con fibrosis quística / Validity and reliability of the St George's Respiratory Questionnaire in adults with cystic fibrosis

Objetivo: Estudiar la percepción de la calidad de vida (CV) en una población adulta con fibrosis quística (FQ) y valorar la validez del Cuestionario Respiratorio St. George (SGRQ) en estos pacientes. Pacientes y métodos: Hemos estudiado a 37 personas adultas con FQ, estables desde el punto de vista respiratorio y nutricional. Se realizó una valoración de la gravedad de la enfermedad mediante espirometría y los sistemas NIH (National Institutes of Health) modificado y Bhalla, así como una valoración nutricional mediante la medición del peso, la talla, el índice de masa corporal, impedanciometría bioeléctrica y parámetros analíticos. Se estimó la percepción de la CV mediante el SGRQ. Resultados: Las personas con FQ tienen mayores puntuaciones (peor CV) que la población general y que los afectados de enfermedad pulmonar obstructiva crónica (EPOC). El coeficiente alfa de Cronbach de la puntuación total fue de 0,864. Las mujeres con FQ presentan puntuaciones más altas que los varones, aunque sin alcanzar la significación estadística. Se observa una gradación de las puntuaciones (de forma estadísticamente significativa) en función de la gravedad de la afectación pulmonar (a mayor gravedad, peor CV). Se han encontrado relaciones positivas, estadísticamente significativas, entre las dimensiones del SGRQ y la edad, el índice de masa corporal y el porcentaje de masa grasa, y negativas con el NIH modificado, el Bhalla, el volumen espiratorio forzado en el primer segundo (expresado en porcentaje) y las concentraciones de cinc y somatomedina C. Conclusiones: Los adultos con FQ tienen peor percepción de la CV que la población general y que los afectados de EPOC. El SGRQ es válido para analizar la CV relacionada con la salud de las personas adultas con FQ, ya que discrimina muy bien entre los distintos grados de gravedad de la función pulmonar y presenta una adecuada consistencia interna

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 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 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 also have an appropriate intern consistency

Serum phospholipid fatty acid profile and dietary intake in an adult Mediterranean population with cystic fibrosis.

The relative importance of the usual diet in serum phospholipids in subjects with cystic fibrosis (CF) has been poorly studied. To compare the fatty acid profile in serum phospholipids from adult CF subjects with that of healthy subjects, and determine the role of the normal diet in this profile, we studied thirty-seven adult CF subjects with stable pulmonary disease and thirty-seven healthy controls matched for age, sex and nutritional status. A dietary questionnaire was obtained, anthropometric data were recorded, and the fatty acid profile measured by GLC. Compared with the controls, the percentages of myristic, palmitoleic and stearic acids and total MUFA were significantly higher in the CF group, and DHA, linoleic acid, total PUFA and n-6 fatty acids were significantly lower in the CF group. The CF subjects with worse pulmonary function and with pancreatic insufficiency had significantly lower levels of linoleic and n-6 fatty acids. The total energy intake was significantly higher in the CF subjects, although the energy distribution in the CF subjects and the controls was not different for the carbohydrates, lipids and proteins. No differences were detected in fat intake for MUFA (51 (SD 4) v. 52 (SD 4) %) or saturated fatty acids (33.5 (SD 5) v. 31.2 (SD 3.8) %), but the PUFA were slightly lower in the CF subjects (15.4 (SD 4.5) v. 17.4 (SD 4.2) %; P=0.02). The usual dietary intake of fatty acids by adult CF subjects does not appear to explain the difference in the fatty acid profile compared with controls. This suggests an abnormal fatty acid metabolism in CF subjects.

Crystallization and preliminary X-ray crystallographic studies of glutaredoxin 2 from Saccharomyces cerevisiae in different oxidation states.

Glutaredoxins are small (9-12 kDa) heat-stable proteins that are highly conserved throughout evolution; the glutaredoxin active site (Cys-Pro-Tyr-Cys) is conserved in most species. Five glutaredoxin genes have been identified in Saccharomyces cerevisiae; however, Grx2 is responsible for the majority of oxidoreductase activity in the cell, suggesting that its primary function may be the detoxification of mixed disulfides generated by reactive oxygen species (ROS). Recombinant Grx2 was expressed in Escherichia coli as a 6xHis-tagged fusion protein and purified by nickel-affinity chromatography. Prior to crystallization trials, the enzyme was submitted to various treatments with reducing agents and peroxides. Crystals suitable for X-ray diffraction experiments were obtained from untreated protein and protein oxidized with t-butyl hydroperoxide (10 mM). Complete data sets were collected to resolutions 2.15 and 2.05 A for untreated and oxidized Grx2, respectively, using a synchrotron-radiation source. The crystals belong to space group P4(1)2(1)2, with similar unit-cell parameters.