Analysis of the effectiveness of training school personnel in the management of food allergy and anaphylaxis.

BACKGROUND: Food allergy is a very frequent and increasingly common disease in children and adolescents. It affects quality of life and can even be life-threatening. Given that 10-18% of allergic/anaphylactic food reactions take place in schools, it is essential to provide school personnel with training on the management of reactions. METHODS: The Allergy Unit of Hospital Universitario de Fuenlabrada, Spain, organized a conference entitled "Management of Food Allergy in Children and Adolescents in School Centers" during which teachers, cooks, cafeteria monitors, and summer-camp leaders underwent a training course. Attendees filled out a questionnaire with eight questions before and after the course to assess their self-efficacy in management of food allergy and anaphylaxis. The results were compared. RESULTS: A total of 191 people participated (51% dining-room monitors, 24% teachers, 13% cooks, and 12% other professions). The areas in which the attendees presented the lowest confidence before receiving the course were recognition of symptoms and treatment of the reactions/anaphylaxis. The mean score for each of the eight concepts evaluated improved after the training course. This improvement was significant in the management of anaphylaxis. CONCLUSIONS: Our study demonstrates the usefulness of a self-efficacy scale in school personnel as a tool to assess the ability to manage food allergy and anaphylaxis. It can help to identify problem areas in which more specific training programs can be implemented.

Comparison of two diagnostic techniques, skin-prick test and component resolved diagnosis in the follow-up of a cohort of paediatric patients with pollinosis. Multicentre pilot study in a highly exposed allergenic area.

BACKGROUND: Over the last years, different works have been published about the importance of incorporating new diagnosis techniques in allergic patients such as component-resolved diagnosis (CRD). The objective of this study is to compare the evolution of allergic sensitisation profiles by means of CRD and cutaneous tests (SPT) on pollen-allergic patients. METHODS: A total of 123 patients aged between 2 and 14 years were included in an open, prospective, multicentre study. All the children had symptoms suggestive of seasonal respiratory allergic disease, with the diagnosis confirmed by cutaneous tests. Specific-IgE to major pollen-allergens (CRD) and SPT were performed at basal and after three years of follow-up. RESULTS: Out of 123 patients included, a total of 85 were analysed. The mean age was 8±3 years. Significant changes in the allergic sensitisation profiles were observed for the most prevalent allergens (Olea and grass) but it is in grass, the most relevant allergen in terms of allergen pressure, where changes in both absolute and relative frequencies between SPT and CRD were more evident. CONCLUSION: CRD seems to be an essential tool to carry out an appropriate follow-up of patients with allergic respiratory disease, as well as to decide on the immunotherapy composition that best matches the allergic sensitisation profile of patients.

Prevalence of sensitization to lipid transfer proteins and profilins in a population of 430 patients in the south of Madrid.

BACKGROUND: Lipid transfer proteins (LTPs) and profilins are the most important panallergens in the management of patients who are allergic to pollen and plant food in our area. LTPs are highly stable proteins that can induce systemic symptoms after ingestion. Profilins are labile proteins that are present in pollens and vegetables. Considered markers of several types of pollen sensitization, they are responsible for cross-reactivity between pollens and vegetables. The objective of this study was to assess the frequency of sensitization to LTP and profilin using skin prick tests (SPTs) in patients referred to our allergy unit for any complaint (not only pollen and plant food allergy). METHODS: The study sample comprised 430 consecutive patients who were evaluated using their medical history and SPTs with pollen, date palm profilin, and peach extract enriched in Pru p 3 (30 g/mL) as an LTP marker. RESULTS: We found that 52 (12.1%) patients were sensitized to profilin and 53 (12.3%) to LTP. Pollen allergy was diagnosed in 53% and plant food allergy in 11%. In the LTP-sensitized group and the profilin-sensitized group, 37.7% and 34.6% of the patients had plant food allergy, respectively. Thirty-three patients (62.3%) were sensitized to LTP but had no symptoms after eating vegetables. CONCLUSIONS: To the best of our knowledge, this is the first study to analyze the real rate of sensitization to profilin and LTP in a population sensitized to allergens other than pollens and plant foods. Twelve percent of patients were sensitized to both profilin and LTP. A large proportion of LTP-sensitized patients had no symptoms at the time of the study.

[Epidural anesthesia for coronary revascularization in the conscious patient]. / Revascularización coronaria en el paciente despierto bajo anestesia epidural.

Thoracic epidural anesthesia has been widely used to complement general anesthesia in coronary artery bypass grafting. The main advantages of the combination are excellent pain control and a less pronounced stress response to surgery. The invasiveness of surgery to treat ischemic heart disease has been attenuated thanks to the use of the mini-sternotomy and coronary anastomosis without extracorporeal circulation. In 4 patients, coronary artery revascularization was carried out via a mini-sternotomy, grafting the anterior descending artery to the left internal thoracic artery under high thoracic epidural anesthesia (block of segments T1-T8) with a perfusion of 0.75% ropivacaine and fentanyl in a conscious patient. There were no hemodynamic or respiratory complications during surgery. The mean duration of stay in the intensive care unit was less than 18 hours and the mean hospital stay was less than 5 days. Postoperative coronary arteriograms demonstrated the patency of all grafts and all patients were asymptomatic at 1 month. Our initial experience suggests that the use of only high thoracic epidural anesthesia is feasible in coronary revascularization in selected, cooperative patients who require a single coronary bypass graft.

[Cell saver devices in coronary revascularization surgery without extracorporeal circulation reduce transfusion requirements]. / El Recuperador Celular (Cell Saver) en cirugía de revascularización coronaria sin circulación extracorpóea reduce necesidades transfusionales.

OBJECTIVES: To analyze the effectiveness of a cell saver device in reducing transfusion requirements in patients undergoing off-pump coronary artery bypass surgery. PATIENTS AND METHODS: Fifty-six consecutive ASA class 4-5 patients who underwent coronary surgery without extracorporeal circulation in our cardiac surgery department between June 2004 and January 2005 were included in this retrospective study; the series comprised 28 patients who received conventional management (control group) without use of the cell saver device and 28 who received cell saver treatment. Variables analyzed were preoperative and discharge hemoglobin levels and hematocrit values, age, weight, height, ejection fraction, packed red blood cells transfused, exitus, and adverse events. RESULTS: The groups were similar with respect to preoperative characteristics. Fewer patients in the cell saver group required transfusions (6 vs 18 in the control group; relative risk 0.33, 95% confidence interval, 0.16-0.71). The mean amount of packed red cells transfused was greater in the control group than in the cell saver group (2.5 L vs 1.2 L, P = 0.03). No deaths or adverse events occurred in either group. CONCLUSIONS: The routine use of a cell saver device during off-pump coronary artery bypass surgery reduces the need for postoperative transfusions and is not associated with adverse events. Cell saver devices should be used routinely, especially in situations where the ability to provide blood transfusions may be compromised.

Genetic instability of microsatellites in hematological neoplasms.

Genetic instability has been recently related to point mutations on genes involved in DNA repair pathway of errors produced during replication. These molecular alterations have been described in hereditary and sporadic colon carcinomas and related tumors. To examine genetic instability on lympho- and myeloproliferative processes, we analyzed the behaviour of 10 microsatellite markers and one VNTR on different chromosomes in 10 patients with non-Hodgkin lymphomas (NHL), one patient with acute lymphoblastic leukemia (ALL) and 10 patients with acute myeloid leukemia (AML). Mobility shifts were found in three of those cases. One of them showed genetic instability for several markers--microsatellites and VNTR- and the other two showed differences for only one marker. As a correlation between point mutations in MSH2 gene and the presence of genetic instability in hereditary non-polyposis colon cancer (HNPCC) and related tumors has been found, we analyzed the sequence of a conversed region of this gene in the cases showing this phenomenon. We only found a polymorphism, previously described, in 669 codon from cDNA.

Identification of three novel mutations in the MYO7A gene.

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.

G106R rhodopsin mutation is also present in Spanish ADRP patients.

A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T-->C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.

We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

We present clinical and cytogenetic studies of a female patient affected with choroideremia, mild sensorineural deafness, and primary amenorrhea showing a balanced translocation between chromosomes X and 4. The breakpoint was precisely defined applying FISH techniques: 46,X,t(X;4)(q21.2;p16.3).ish t(X;4)(D4S96+, D4F26+; wcpX+). The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. The presence of X-linked disorders in this balanced carrier of X-autosomal translocations (XAT) can be explained either by the disruption of the structural coding or regulatory sequences of the gene(s) or by the submicroscopic deletion of this region leading to a contiguous gene deletion syndrome. The primary ovarian failure (POF) found in the present case has been already observed in XAT when the breakpoint is within a previously defined critical region (Xq13-26). A position effect is postulated as a possible explanation.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing loss, retinitis pigmentosa, and normal vestibular function. Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. The USH2A gene (MIM 276901) has been identified: three mutations, 2314delG, 2913delG, and 4353-54delC, were initially reported in USH2A patients, the most frequent of which is the 2314delG mutation. It has been reported that this mutation can give rise to typical and atypical USH2 phenotypes. USH2 cases represent 62% of all USH cases in the Spanish population, and 95% of these cases have provided evidence of linkage to the USH2A locus. In the present study, the three reported mutations were analyzed in 59 Spanish families with a diagnosis of USH type II. The 2314delG was the only mutation identified in our population: it was detected in 25% of families and 16% of USH2 chromosomes analyzed. This study attempts to estimate the prevalence of this common mutation in a homogeneous Spanish population.

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient: We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome 10 (p13;q22) pat. Although the presence of the same inversion in the father and in the apparently asymptomatic sister does rather suggest that the concurrence of the mitochondrial disease in the patient was due to chance, some alternative explanations to associate both events might be proposed.

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.

[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis]. / Mutación Asp-190-Tyr en el gen de la rodopsina en una familia española afectada de retinosis pigmentaria autosómica dominante.

Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.

[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis]. / Mutación Pro347Leu del gen de la rodopsina en una familia española con retinosis pigmentaria autosómica dominate.

We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct sequentiation and restriction analysis with the enzyme Mspl, showed a C-->T change in the second base of 347 codon of RHO gene. This mutation predicts a change of proline by leucine at this position. Every patient with the mutation showed a phenotype of diffuse, early onset and severe pigmentary retinosis with a little intrafamiliar variation. The Pro347Leu mutation, that has been very frequently described among all the populations, has been identified as a cause of RP in an Spanish family.

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]. / Retinosis pigmentaria, distrofia en patrón y fundus flavimaculatus no relacionadas con una mutación en el gen de la rodopsina, periferina/RDS y ROM-1.

PURPOSE: Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out. METHODS: A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis. RESULTS: No mutation was found in any of the family members. CONCLUSIONS: Mutations in other genes may be involved in retinal dystrophies.