Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.

OBJECTIVE: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for degrading heparan and dermatan sulfate. The IDS gene is located on chromosome Xq28; pathological variants in this gene mostly consist of missense mutations and small and larger deletions, which produce different phenotypes. However, there is only one record in our population concerning the molecular mechanism of this disease; a genotype-phenotype description is not available. PATIENTS AND METHODS: There were included 24 unrelated male patients; clinical features were recorded at a database, fluorometric IDS enzyme activity testing was done for each individual, followed by Sanger sequencing to identify mutations. RESULTS: The mutational spectrum was found in 16 out of 24 Mexican patients with MPS II, and its range of phenotypes was described. The most frequent variants were of the missense type. The most affected exons were exon 3 (c.275T>G, c.284_287del, c.325T>C), exon 8 (c.1035G>C, c.550G>A), exon 9 (c.1403G>C, c.1229_1229del), and exon 7 (c.979A>C; this variant has not been previously reported). Exon 5 (c.438C>T, a non-pathogenic variant) was the least frequent. It was also found that the most severely affected patients were those with large deletions (2 out of 24) [rsaIDS: IDSP1 (P164)x0, FMR1, AFF2 (P164)x2] involving genes and pseudogenes. We found 2 patients with a synonymous mutation in exon 4. CONCLUSIONS: Our results confirmed reports in the literature, since the most frequent variants were reported in exons 3 and 8. However, this result varies from one previous report in our population, which mentions large deletions and rearrangements as the most frequent alterations, since complex rearrangements were not found. According to what has been previously found, the most severely affected patients are those in which a whole gene has been deleted.

The rs2234694 and 50 bp Insertion/Deletion polymorphisms of the SOD1 gene are associated with breast cancer risk in a Mexican population.

OBJECTIVE: The rs2234694 and 50 bp insertion/deletion (Ins/Del) polymorphisms of the SOD1 gene have been shown to be associated with many diseases, but in breast cancer (BC) their association has not been detected. The purpose of this study was to determine the frequency and association of SOD1 gene polymorphisms (rs2234694 and 50 bp Ins/Del) in BC patients in the Mexican population. MATERIALS AND METHODS: The SOD1 polymorphisms were determined by Polymerase Chain Reaction (PCR) in Mexican healthy subjects and BC patients. RESULTS: The rs2234694 polymorphism was associated with BC susceptibility when BC patients and the control group were compared for the AC genotype (p<0.0001), the AC/CC genotype (dominant model: p<0.0001), and the C allele (p<0.0001). The 50 bp Ins/Del polymorphism was associated with BC susceptibility for the Del allele (p=0.048), although the association between the dominant model AC/CC (rs2234694) and BC patients was evident for menopause [adjusted odds ratio (OR) 1.65 (95% CI 1.05-2.7); p=0.048], Ki-67 (≥15%) (OR1.9, 95% CI 1.14- 3.16, p=0.016), and the presence of DM2 (OR 2.4, 95% CI 1.35- 4.31, p=0.003). A protective association for BC of the rs2234694 polymorphism was observed in patients younger than 50 years positive for estrogen receptor (ER) and progesterone receptor (PR), carrying the AC genotypes (OR 0.47, 95% CI 0.23-0.94, p= 0.033) and CC (OR 0.11, 95% CI 0.013-1.07, p=0.047). The association between the InsDel/DelDel (dominant model; 50 bp Ins/Del) genotype and BC with metastatic lymph nodes (OR 1.5, 95% CI 1.1-2.25, p=0.019), hematologic toxicity (OR 1.5, 95%CI 1.1-2.23, p=0.015), gastric toxicity (OR 1.5, 95%CI 1.1-2.07, p=0.030), and Ki-67 (≥15%) (OR1.6, 95%CI 1.2-2.26, p=0.002) was evident, indicating that these factors may contribute significantly to BC risk. The C/Ins haplotype was also associated with BC susceptibility (OR3.47, 95% CI 1.62-7.74, p=0.001). CONCLUSIONS: rs2234694 and 50 bp Ins/Del polymorphisms in the SOD1 gene were associated with BC susceptibility in a Mexican population. A protective association for BC of the rs2234694 polymorphism was observed in patients younger than 50 years positive for ER and PR, carrying the AC genotypes. The haplogenotypes AA/InsIns and AC/InsDel could contribute significantly to BC risk in gastric and hematologic toxicities, metastatic lymph nodes, and the presence of DM2 in the Mexican population analyzed.

Effect of foods and Mediterranean diet during pregnancy and first years of life on wheezing, rhinitis and dermatitis in preschoolers

BACKGROUND: There is a conflictive position if some foods and Mediterranean diet (MedDiet) consumed by the mother during pregnancy and by the child during the first years of life can be protective for current wheezing, rhinitis and dermatitis at preschool age. METHODS: Questionnaires of epidemiological factors and food intake by the mother during pregnancy and later by the child were filled in by parents in two surveys at two different time points (1.5 yrs and 4 yrs of life) in 1000 preschoolers. RESULTS: The prevalences of current wheezing, rhinitis and dermatitis were 18.8%, 10.4%, and 17.2%, respectively. After multiple logistic analysis children who were low fruit consumers (never/occasionally) and high fast-food consumers (≥3 times/week) had a higher risk for current wheezing; while intermediate consumption of meat (1 or 2 times/week) and low of pasta by mothers in pregnancy were protected. For current rhinitis, low fruit consumer children were at higher risk; while those consuming meat <3 times/week were protected. For current dermatitis, high fast food consumption by mothers in pregnancy; and low or high consumption of fruit, and high of potatoes in children were associated to higher prevalence. Children consuming fast food >1 times/week were protected for dermatitis. MedDiet adherence by mother and child did not remain a protective factor for any outcome. CONCLUSION: Low consumption of fruits and high of meat by the child, and high consumption of potatoes and pasta by the mother had a negative effect on wheezing, rhinitis or dermatitis; while fast food consumption was inconsistent

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Effect of foods and Mediterranean diet during pregnancy and first years of life on wheezing, rhinitis and dermatitis in preschoolers.

BACKGROUND: There is a conflictive position if some foods and Mediterranean diet (MedDiet) consumed by the mother during pregnancy and by the child during the first years of life can be protective for current wheezing, rhinitis and dermatitis at preschool age. METHODS: Questionnaires of epidemiological factors and food intake by the mother during pregnancy and later by the child were filled in by parents in two surveys at two different time points (1.5 yrs and 4 yrs of life) in 1000 preschoolers. RESULTS: The prevalences of current wheezing, rhinitis and dermatitis were 18.8%, 10.4%, and 17.2%, respectively. After multiple logistic analysis children who were low fruit consumers (never/occasionally) and high fast-food consumers (≥3 times/week) had a higher risk for current wheezing; while intermediate consumption of meat (1 or 2 times/week) and low of pasta by mothers in pregnancy were protected. For current rhinitis, low fruit consumer children were at higher risk; while those consuming meat <3 times/week were protected. For current dermatitis, high fast food consumption by mothers in pregnancy; and low or high consumption of fruit, and high of potatoes in children were associated to higher prevalence. Children consuming fast food >1 times/week were protected for dermatitis. MedDiet adherence by mother and child did not remain a protective factor for any outcome. CONCLUSION: Low consumption of fruits and high of meat by the child, and high consumption of potatoes and pasta by the mother had a negative effect on wheezing, rhinitis or dermatitis; while fast food consumption was inconsistent.

Fixed drug eruption due to atorvastatin

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Profilin sensitisation in a Mediterranean population

BACKGROUND: Sensitisation to pan-allergens has become an interesting tool for the study of the allergenic profile of different populations. Profilins are one of the most common pan-allergens to be studied because they are responsible for a large number of sensitisations and are clearly related to cross-reactivity and co-sensitisation. OBJECTIVES: The objective of this study was to investigate the profile of sensitisation to profilins and to correlate it with sensitisation to foods and pollens. METHODS: Six hundred and fifty-four consecutive patients were skin-prick tested with a battery of common allergens including pollens, epithelia, mites and moulds and profilin and divided into three groups depending on their sensitisation profile (non-atopic, atopic with pollinosis and atopic without pollinosis). Patients with symptoms were challenged and diagnosed with the offending food extracts. Profilin sensitisation was identified and analysed in detail. RESULTS: According to the classification of the population, the prevalence of profilin sensitisation was estimated at 2.9% in patients suffering respiratory allergy, 4.2% in atopic patients, and 5.9% in pollen-sensitised individuals. Positive association was observed between pollen (except Cupressus and olive) and profilin but not with moulds, mites or epithelia. With respect to foods, positive association was only observed between profilin and melon sensitisation. Lastly, in terms of symptoms, positive association was only observed between profilin sensitisation and OAS. CONCLUSION: Profilin sensitisation seems to be a marker of pollen-related poly-sensitisation in our area. Pan-allergen diagnosis seems to be an essential tool for developing and improving selection of the correct treatment for allergic patients

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Profilin sensitisation in a Mediterranean population.

BACKGROUND: Sensitisation to pan-allergens has become an interesting tool for the study of the allergenic profile of different populations. Profilins are one of the most common pan-allergens to be studied because they are responsible for a large number of sensitisations and are clearly related to cross-reactivity and co-sensitisation. OBJECTIVES: The objective of this study was to investigate the profile of sensitisation to profilins and to correlate it with sensitisation to foods and pollens. METHODS: Six hundred and fifty-four consecutive patients were skin-prick tested with a battery of common allergens including pollens, epithelia, mites and moulds and profilin and divided into three groups depending on their sensitisation profile (non-atopic, atopic with pollinosis and atopic without pollinosis). Patients with symptoms were challenged and diagnosed with the offending food extracts. Profilin sensitisation was identified and analysed in detail. RESULTS: According to the classification of the population, the prevalence of profilin sensitisation was estimated at 2.9% in patients suffering respiratory allergy, 4.2% in atopic patients, and 5.9% in pollen-sensitised individuals. Positive association was observed between pollen (except Cupressus and olive) and profilin but not with moulds, mites or epithelia. With respect to foods, positive association was only observed between profilin and melon sensitisation. Lastly, in terms of symptoms, positive association was only observed between profilin sensitisation and OAS. CONCLUSION: Profilin sensitisation seems to be a marker of pollen-related poly-sensitisation in our area. Pan-allergen diagnosis seems to be an essential tool for developing and improving selection of the correct treatment for allergic patients.

Cutaneous hyperpigmentation induced by omeprazole mimicking ashy dermatosis.

BACKGROUND: Omeprazole has been associated with multiple adverse effects including skin reactions but, to date, cutaneous hyperpigmentation has not been described as an adverse effect of this drug. OBSERVATIONS: We describe a case of a 52-year-old Caucasian woman who developed skin hyperpigmentation in the upper trunk, mimicking ashy dermatosis, 2 months after initiating omeprazole treatment. Histopathologic examination of a skin biopsy taken from a pigmented macule showed dermal macrophages containing golden-brown granules, which also displayed a sulphur peak on energy-dispersive X-ray microanalysis. High-performance liquid chromatography (HPLC) and mass spectrometry were also performed on the drug and on a biopsy specimen revealing the same chromatograms as well as the same mass spectra. CONCLUSIONS: According to our results, omeprazole itself may induce cutaneous pigmentation and, to our knowledge, this is the first report of this finding.

¿Son útiles los fármacos antilecotriénicos en el tratamiento de la rinitis alérgica? Revisión de la bibliografía / Are antileukotriene drugs useful to treat allergic rhinitis? A medical literature review

Introducción: Los cisteinil leucotrieno: on mediadore potentes de la inflamación producidos por la 5 lipooxigenasa en el metabolismo del ácido a.raquidónico. Estos mediadores estimulan la secreción en las vías respiratorias. la migración de los eosinófilos y la inflamación en la rinitis y el asma. Los fármacos antileucotriénicos (ALT) desempeñan una función aruinflamatoria en los pacientes asmáticos al impedir los efectos de lo. leucotrieno: bien inhibiendo su síntesis o bloqueando lo receptores de los cisteinil leucotrienos. En los últimos años se han realizado estudios relacionados con la posible eficacia de los fármacos antileucotriénicos asociados o no a los antihistamínicos y los corticoides tópicos en el tratamiento de la rinitis alérgica. Objetivo: Revisar los estudios clínicos con distribución aleatorias. a doble ciego y controlados con placebo que se han realizado con fármacos antileucotriénicos en el tratamiento de la rinitis alérgica. Método: Se realiza una revisión bibliográfica hasta mayo de 200­1­ en Medline. IME. EMBASE. la base de datos de la Cochrane Libran· y bibliografía facilita­ da por la industria farmacéutica. Resultados: Se han revisado 13 estudios clínicos que cumplían los requisitos del estudio. Aunque el añadir montelukast en las dosis comercializadas a pacientes tratados con dosis terapéuticas de antihistamínico · mejoran los síntomas de la rinitis. el escaso número de estudios clínicos realizados en la rinitis alérgica utilizando ALT como monoterapia o a ociados a antihistamínico. o corticosteroides tópicos, su corta duración, el que uno de ellos esté disponible sólo en folio de resumen y el hecho de que los resultados no sean homogéneos en función del fármaco antileucotriénico utilizado hacen difícil establecer conclusiones definitivas y globales respecto a esta clase terapéutica. por lo que se precisan más estudio y de mayor duración (...) (AU)

Introduction: Cysteinil leukotrienes are potent 5­lipoxygena e­synthesized mediator in inflammation in metabolism of arachidonic acid. These mediators stimulate airways secretion. eosinophil migration. and inflammation in rhinitis (…) (AU)

Anti-IgE (omalizumab) en el tratamiento de la rinitis alérgica / Anti-IgE ( omalizumab) in the treatment of allergic rhinitis

Introducción: El omalizumab es un anticuerpo monoclonal recombinante humanizado que se une específicamente al dominio C3e de la IgE, el lugar de unión al receptor de afinidad alta de la IgE. Objetivo: Realizar una revisión de lo principales estudios clínicos con distribución aleatoria, a doble ciego y controlado con placebo realizado con omalizumab en pacientes con rinitis alérgica estacional o perenne para determinar la eficacia y seguridad de este anticuerpo monoclonal. Métodos: Se realizó una búqueda bibliográfica hasta abril de 2004 en Medline, IME, EMBASE y la base de datos de Ja Cochrane Library. Resultados: Se incluyeron 8 estudio clínicos con distribución aleatoria en rinitis alérgica, que se comentan y cuyos principales resultados se exponen. Conclusiones: Los paciente con rinitis alérgica e racional y perenne tratados con omalizumab por vía subcutánea presentan un claro beneficio clínico, con poco y leves efectos adversos, lo que le convierte en un fármaco prometedor para el tratamiento de esta enfermedad alérgica (AU)

Introduction: Omalizumab is a recombinant humanized monoclonal antibody which specifically bind to the Ce3 dornain of IgE, the site of binding to the high-affinity IgE receptor. Objective: To carry out a revision of the main randomized double blind clínica] tria] , controlled with placebo that have been carried out with Omalizumab in patients with sea onal or perennial allergic rhinitis in order to determine the efficacy and safety of this monoclonal antibody. Methods: We earched until April 2004 Medline. IME. EMBASE. and Data Base of Cochrane Library. Results: Eight randomized clinical trials were included, which are commented, and their main results are exposed. Conclusions: Patients with seasonal and perennial allergic rhinitis treated subcutaneously with Omalizumab get an evident clinica1 benefit, with few and mild adverse events, what become it in a promising drug for the treatment of this allergic disease (AU)

Satisfacción de los pacientes asistidos en una consulta externa de alergología / Satisfaction among patients attending outpatient allergy clinic

Objetivo: Valorar la satisfacción de los pacientes de las consultas externas de la Sección de Alergología del Hospital Universitario Virgen de la Arrixaca (Murcia) e identificar posibles mejora. Material y método: Estudio transversal, utilizando un cuestionario de satisfacción, que se entregó a todos los pacientes que acudieron a la consulta durante una semana de abril de 2004. Resultados: De los 259 pacientes citado, cuarenta y cuatro no acudieron a la consulta. La encuesta fue contestada por 113 pacientes. El 23,0 l % de los pacientes son menores de 20 años. El 67,26% conoce el nombre del alergólogo que les atiende, mientras que sólo el 10.62% conoce el del enfermero. El 6, 19% afirma que el tiempo dedicado a su consulta fue "escaso" o "muy e caso". Veintiocho paciente (24.78%) han realizado sugerencia. El grupo más numeroso corresponde a las relacionadas con la mejora del si tema de citaciones, la reducción de la Ji ta de espera y el tiempo excesivo de espera previo a la consulta. Conclusiones: El conocimiento del nombre de los profesionales sanitarios, el tiempo dedicado a consulta y la información sobre lo riesgo derivados del diagnóstico y tratamiento son aspectos muy valorados por los pacientes en las consultas de alergología y están a ociados a una mayor satisfacción global con el servicio. La espera previa a la consulta y las dificultades para la citación son las oportunidades de mejora expresadas de manera mayoritaria en el apartado de sugerencia (AU)

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