ERIC recommendations on IGHV gene mutational status analysis in chronic lymphocytic leukemia.
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Europe↗
Biomedical subjects
C Moreno
Publications and source records attributed to C Moreno.
Association of polymorphisms in the bovine FASN gene with milk-fat content.
Fatty acid synthase (FASN) is a multifunctional protein that carries out the synthesis of fatty acids so it plays a central role in de novo lipogenesis in mammals. Previously, we defined the genetic structure and expression of the bovine FASN gene. Our mapping studies placed FASN on BTA19 (19q22) where several quantitative trait loci (QTL) affecting milk-fat content and related traits have been described. This study was conducted to identify polymorphisms in the bovine FASN gene and to study their association with milk-fat content. The bovine FASN gene was screened for polymorphisms in two cattle breeds. Sequence analysis revealed several single nucleotide polymorphisms (SNPs), and two of them were analysed: a G>C substitution in the untranslated exon 1 (g.763G>C), altering a potential Sp1 transcription factor-binding site, and an A>G substitution in exon 34 (g.16009A>G), which determines a non-conservative substitution of threonine by alanine. Allele-specific amplification of the SNPs in FASN revealed significant frequency differences for both polymorphisms in Holsteins with high and low breeding values for milk-fat content. The intragenic haplotypes comprising exon 1 (alleles G and C) and exon 34 (alleles A and G) polymorphisms were studied, and the existence of linkage disequilibrium between these SNPs was found (D(CG) = 0.048, P < 0.001). Our results suggest that the FASN gene polymorphisms contribute to variation in milk-fat content. We propose that the bovine FASN gene is a candidate gene for a milk-fat content QTL.
Alleles↗
The crossed dermal flaps technique for breast reduction.
BACKGROUND: More than100 techniques and variations of breast reduction have been published. In most, the principal differences involve the method of transpositioning the nipple-areola complex and the pattern of skin resection. Skin resection inevitably causes scarring, which has given rise to an ongoing debate over long scar techniques and short scar techniques. The debate would be mute if only the extent of the scar was evaluated: ideally, the shorter the better. However, this limitation of scar extension conditions other elements to be evaluated in the results. On the other hand, there is a great variety of clinical cases in which not only the volume must be considered, but also the degree of ptosis, the quality of the skin, the age, and, most importantly, the wishes of the patients. OBJECTIVES: The objective of the crossed dermal flaps procedure was to obtain optimum volume, position, and shape of the breast; well-located good-quality scars as short as possible; and early satisfactory and long-lasting results. METHODS: Between June 1986 and June 2003 136 women underwent this procedure, performed under controlled hypotension (median arterial blood pressure, 60 mmHg). The technique is based on Wise-type skin marking associated with glandular resection in the lower and lateral poles, and transpositioning of the nipple-areola complex with a superior medial dermoglandular pedicle. Two rectangular areas under each cutaneous vertex are delimited, which will correspond with the future dermal flaps. These flaps are crossed, then fixed to the musculoaponeurotic chest wall, and the rest of the wound is sutured by planes in a conventional manner. RESULTS: Two patients (1.4%) experienced minimum cutaneous epidermolysis without dehiscence at the union of the vertical and horizontal sutures, which later healed by second intention without interference with the aesthetic result. Three cases (2%) showed partial and superficial necrosis of one of the areolae, but healed during the following 3 weeks without secondary surgery. In three patients (2%), hematomas developed, which were drained in the dressing room with no complications. One patient experienced thickening of the scar. No infections were observed. CONCLUSIONS: The authors believe the cross dermal flaps technique is safe and applicable to an extensive variety of cases. It is easy to execute and to teach, and therefore, those who are beginning to use inverted T techniques such as that described, can, from the beginning, diminish the incidence of short- and long-term complications such as dehiscence that lead to scarring at the convergence of the flaps and bottoming out of the inferior pole, with the horizontal scar displaced upward and an increase in the distance between the later and the nipple areola complex.
Adolescent↗
Pollen allergy in Cordoba city: frequency of sensitization and relation with antihistamine sales.
The occurrence of symptoms in pollen allergy patients in urban areas may be affected by local environmental factors such as sources of pollution, natural and ornamental vegetation, local architecture impeding dispersion, etc. The aim of this study was to analyse the frequency of sensitization in pollen allergy patients and the relationship with antihistamine sales. For this study, a large number of clinical records, together with pharmaceutical and pollen data, were collected between 1999 and 2001 in the city of Córdoba, in the south of the Iberian Peninsula. Differences were observed in the symptoms suffered by pollen allergy patients in different areas of the city due to varying local emission of both biological and non-biological particles. Temporal distribution of symptoms over the three study years was influenced by meteorological factors, especially rainfall patterns; higher water supply to plants was associated with increased airborne pollen concentrations. Air pollution might be one of the main factors affecting the distribution of pollen allergy patients within the city. Recent years have seen a worsening of symptoms and increased sensitization to urban species such as plane-trees.
Air Pollution↗
Enriched protein diet-modified ghrelin expression and secretion in rats.
Gastrointestinal (GI) integrity and function are regulated by nutrition and growth factors. The discovery of ghrelin, a natural growth hormone (GH) secretagogue produced by the gastrointestinal (GI) tract, is a potential link between diet and growth signals. The aim of this study was to evaluate macronutrient effect on ghrelin expression and secretion in addition to some possible function in intestinal trophic status. Wistar rats were fed a high-carbohydrate, high-protein (HP), high-fat or standard (St) diet. Animals received the same daily food volume and caloric intake. After 7 days, animals were fasted for 24 h and blood and tissue samples were obtained just before feeding or at 2 or 6 h after feeding. Fasting high-protein-fed rats had higher ghrelin plasma levels than with rats fed the high-carbohydrate, high-fat or standard diets. Two-hours after refeeding, ghrelin plasma levels had decreased in all groups with a slight recovery at 6 h after refeeding, except in the high-protein group. Ghrelin plasma levels in rats fed with the high-protein diet correlated negatively with their GH and insulin-like growth factor 1 (IGF-1) plasma concentrations which were also the lowest among the study groups. In conclusion, ghrelin secretion was nutritionally manipulated because a protein-enriched diet increased its levels.
Animals↗
Anti-inflammatory cytokines induce lipopolysaccharide tolerance in human monocytes without modifying toll-like receptor 4 membrane expression.
Toll-like receptor 4 (TLR4) participates in innate immunity by detecting lipopolysaccharides (LPS) of Gram-negative bacterial cell walls. TLR4 macrophage expression in mice is modulated by LPS. This fact constitutes, at least partially, the molecular basis for LPS tolerance. Very recently, the effect of interferon-gamma (IFN-gamma), a pro-inflammatory cytokine, has been described on TLR4 membrane expression of human monocytes. IFN-gamma up-regulates TLR4 expression and antagonizes the LPS-induced TLR4 down-regulation. These data prompted us to study the expression of membrane TLR4 in human mono- cytes in which LPS tolerance was induced by LPS and by anti-inflammatory cytokines [interleukin-10 (IL-10) and transforming growth factor beta1 (TGFbeta1)]. Data concerning this latter model, and more specifically, the effect of anti-inflammatory cytokines over TLR4 expression, are not available at present. We show here that membrane TLR4 expression in human monocytes falls after LPS exposure. The effect was prolonged for 12 h, but then expression returned to normal levels. The incubation of human monocytes with IL-10, TGFbeta1 or a mixture of both induces no alterations in membrane TLR4 expression. However, these cytokines are able to substitute the tolerizing LPS exposure in order to induce LPS tolerance. Our data help to achieve a better understanding of the way cytokines control the cellular expression of TLR.
Adult↗
Immunotherapy safety: a prospective multi-centric monitoring study of biologically standardized therapeutic vaccines for allergic diseases.
BACKGROUND: The fear of side-effects has led to strict regulations preventing a more widespread use of specific immunotherapy (SIT) in some countries, in spite of the low risk of systemic reactions (SRs) reported in well-controlled studies. The goal of the study was to carry out a prospective and multi-centric trial to evaluate the safety, risk factors and compliance degree of commercially available SIT. MATERIALS AND METHODS: The study was carried out in 14 allergy departments from Spain. Four-hundred and eighty-eight patients with rhinitis and/or asthma were submitted to treatment with biologically standardized allergen extracts commercially available. They were administered following the European Academy of Allergy and Clinical Immunology guidelines. RESULTS: Four hundred and twenty-three patients (86.7%) completed the treatment and remained under control at the end of the trial. Out of 17,526 administered doses, 17,368 doses (99.1%) were not associated with a reaction. Eighteen patients (3.7%) experienced 53 (0.3% of the doses) SRs. All immediate SRs were mild or moderate and responded well to ordinary treatment measures. There were no fatal reactions, anaphylactic shock or life-threatening reactions. A higher ratio of SRs was found among asthmatic and dust mite allergic patients, although multi-variable logistic analysis did not demonstrate any risk factor associated with SRs. There was also a subgroup of patients at risk for recurrent reactions, and therefore 40% of SRs had been avoided if the maximal number of SRs had been previously limited to only three SRs. CONCLUSIONS: This multi-centric study showed that SIT was a safe treatment with a very good compliance. Future guidelines of SIT should limit the maximal number of SRs.
Adolescent↗
An outbreak of adenovirus type 8 keratoconjunctivitis in a nursing home in Madrid.
This work describes and analyses an outbreak of epidemic keratoconjunctivitis which occurred in 2001 and 2002 in a nursing home for the elderly in Leganes (an area of Madrid). This is the first such published case in Spain with these characteristics and this serotype identification. Sociodemographic characteristics, epidemic curve and attack rates are described. Comparisons of the data were carried out using a chi2 test for qualitative variable and t-test for quantitative. Factors associated with the illness are explored by means of contingency tables and logistic regression models. One hundred and two cases were detected, with an attack rate of 36.4% for residents, and 12.9% for workers, not considering spatial or professional differences. The epidemic curve showed an interpersonal transmission pattern. Multivariate analysis identified the following risk factors in the residents: able to wander freely through the building, urinary incontinence and use of shared bathroom. In 34.6% of the conjunctival samples, adenovirus serotype 8 was detected with identical genomic sequence. Establishment of hygienic sanitary guidance adapted for the cleaning of such establishments and contact with residents as well as early diagnosis and good coordination of human and material resources are key factors in the prevention and control of these outbreaks in closed communities.
Adenovirus Infections, Human↗
Airborne plane-tree (Platanus hispanica) pollen distribution in the city of Córdoba, South-western Spain, and possible implications on pollen allergy.
Plane-trees are widely grown in Spain as ornaments. This taxon releases large amounts of pollen into the air and this pollen type seems to have proved implications on pollinosis. The aim of this study was to analyse airborne Platanus pollen content in the air of C6rdoba (South-western Spain) over the last 10 years, and its distribution in different areas of the city, as well as to consider possible implications regarding pollen allergies. Results revealed that Platanus pollen concentrations have been at their highest over the last 5 years. Within the city, the lowest pollen concentrations were in Northern areas of the city. Nevertheless, concentrations high enough to be of risk are reached over the whole city. All the patients studied presented symptoms during the Platanus pollen season. We can therefore conclude that plane pollen presents a risk for the whole city although symptoms are more intense and persistent in districts with a higher number of plane-trees. Platanus allergy is a particular problem for city-dwellers, where these trees are commonly used as ornamentals.
Adolescent↗
[Purtscher's retinopathy: a rare complication of acute non-alcoholic pancreatitis].
Purtscher's retinopathy is a rare complication of acute alcoholic pancreatitis that is characterized by the development of cotton-wool exudates and retinal hemorrhages located around the optic disk. Its development is due to ischemic phenomena in the posterior pole of the retina due to microemboli in the retinal arterioles and capillaries. This complication is not related to a poorer prognosis of acute pancreatitis and the retinopathy usually has a favorable outcome with disappearance of the ophthalmic lesions and restoration of visual acuity after 4-6 weeks in most cases. However, some patients may show residual lesions, especially if optical atrophy occurs. We present a 40-year-old woman with loss of visual acuity due to Purtscher's retinopathy during the course of mild acute idiopathic pancreatitis.
Acute Disease↗
Allele frequencies for an interferon-gamma microsatellite in a population of Brazilian leprosy patients.
A group of Brazilian leprosy patients and controls were genotyped for a CA-repeat microsatellite polymorphism within the interferon (IFN)-gamma gene. A significantly higher frequency of alleles 5-7 was observed in this patient population, indicating that IFN-gamma gene polymorphism may contribute to the course of leprosy post-infection.
Brazil↗
Routine use of Gen-Probe Amplified Mycobacterium Tuberculosis Direct (MTD) test for detection of Mycobacterium tuberculosis with smear-positive and smear-negative specimens.
SETTING: Nucleic acid amplification tests, such as the Amplified Mycobacterium Tuberculosis Direct (MTD) Test, may improve early diagnosis of tuberculosis when used in combination with acid-fast bacilli smear examination with a similar turnaround time. OBJECTIVE: To evaluate the routine use of MTD in respiratory and non-respiratory samples; to investigate the improvement of MTD specificity and positive predictive value by defining an equivocal zone for result interpretation. DESIGN: MTD was performed according to the instructions supplied by the manufacturer. An equivocal zone was included for interpretation of results. Discordant results with culture were resolved by incorporating clinical data and multiple specimen analysis. RESULTS: The overall sensitivities, specificities, and positive and negative predictive values for respiratory specimens (n = 3308) were 90.8, 99.9, 99.1, and 99.2%, respectively. With extra-pulmonary specimens (n = 1350) those values were 67.4, 99.9, 98.2, and 97.9%, respectively. By implementing an equivocal zone, the specificity and positive predictive value of MTD were improved (from 99.1% and 88.6% to 99.9% and 98.9% respectively) without significantly altering other performance characteristics. CONCLUSIONS: Amplification assays cannot yet replace the conventional diagnostic techniques. Nevertheless, MTD is a reliable method for the direct detection of M. tuberculosis in clinical specimens. The number of false-positive results can be limited by defining an equivocal zone.
False Negative Reactions↗
[Testicular and epididymal appendages. Contribution about it's embryology and pathogenesis].
OBJECTIVE: The testicular appendages are structures with biologic activity and with the possibility to become ischaemic or to degenerate before determined stimulus. Laterly, we have seen an apparent increase in our cases of torsion of testicular appendages. The said, together with the questions about embriology and pathogenesis of this structures, encourage us to do this work. PATIENTS AND METHODS: 1- Retrospective clinical study of patients operated of torsion of testicular appendages, from January 1984 to December 2001. We asses age, year of operation and clinical features. 2- Prospective clinical study of patients operated of torsion of testicular appendages, between March 1999 and March 2000. We asses age, time of evolution, degree of ischaemia, nutritional status, sexual maturity stage and testicular volume. 3- Inmunocytochemical study of testicular and epididymal appendages. We identified the oestrogen receptors. RESULTS: There is a meaningful increase in the yearly incidence of ischaemia of testicular appendages. The mean age of the patients was 9.3 +/- 2.5 years, similar alone of the study. In the patients of group 2, the mean time of evolution was 49.2 +/- 46.6 hours. The appendages showed oedema and several degrees of ischaemia in the absence of torsion (14/21). The body mass index was 19.5 +/- 3.7, and 90% of patients had stages I and II of Tanner. The mean of testicular volume was 2.1 +/- 1.6 ml. By means of inmunocytochemical study we identified oestrogen receptors in 7 of all testicular appendages studied and absence of oestrogen receptors in all epididymal appendages. CONCLUSIONS: The clinical syndrome of the acute scrotum in the majority of cases is due to oedema and ischemia of the appendages, in absence of torsion, probably related to its enlargement in response to hormonal stimulation, at least in some grade, in prepubertal boys. The difference found, related to oestrogen receptors, suggest a different origin for testicular and epididymal appendages.
Child↗
The optimal immunotherapy cluster schedule in clinical practice.
The efficacy of injective immunotherapy is no longer a matter of debate, but concerns about its safety and compliance problems (because of the number of visits required for the build-up phase) are limiting factors for wider usage. Different schedules have, therefore, been used in clinical trials with the aim of improving both safety and compliance. We investigated the effects on tolerance of modifications to the starting allergenic dose, of the pharmaceutical presentation of the allergen (aqueous or depot), of the change of the number and volume of the daily administrations through progressive adjustments of the so-called clustered schedule. We took the rate of local and/or systemic side effects as the primary criterion, and were able to gradually reduce the rate of systemic reactions per dose and per patient from 4.1% and 65% to 0.3% and 2.6%, respectively, through four progressive modifications of the starting schedule. According to our data, it is possible to reach the maintenance dose in only four visits with 2 administrations per visit. This was achieved either by switching from aqueous to depot extracts or by using depot extracts from the beginning. These results have been obtained without any kind of premedication and with a wide range of allergens, including mites, epithelia, pollens, and honeybee venom. We have shown that the number of injections administered following the conventional schedule could be reduced by 75%, shortening the build-up phase by 38.5%, without increasing the rate of side effects. We think clustered schedules could lead to a better compliance and to a broader use of injective immunotherapy.
Adolescent↗
Tolerance of a cluster schedule on the treatment of seasonal allergic respiratory disease with pollen extracts quantified in mass units.
In order to evaluate the tolerance of a cluster schedule on specific immunotherapy (SIT), 306 patients were included in a multicenter study. The patients were suffering from rhinoconjunctivitis with/without asthma, caused by sensitization to olive and/or grass pollen. SIT was administered subcutaneously according to a cluster schedule in which the maintenance dose is reached after four visits (3 weeks). The extracts were biologically standardized with major allergens quantified in mass units. Local reactions appeared in 7.2% of the patients and 1.3% of the doses. Systemic reactions (SR) were recorded in 1.2% of the doses administered to 9.5% of the patients. No anaphylactic shock was registered, and all the SR responded fully and rapidly to treatment. There was no difference in SR according to diagnosis or allergen extract used. The majority of SR occurred with the administration of vial of higher concentration (Vial 2: 7 SR (22%), Vial 3: 32 SR (78%), p < 0.05). Of the 32 SR recorded with Vial 3, 13 (41%) were immediate, with no existing association between dose administered and appearance of SR. However, of the 18 delayed SR (56%), 14 occurred after the administration of the first two doses of Vial 3 and four occurred after administration of the second two doses (78% vs 22%, p < 0.05). On the other hand, this regime realized an important saving in cost and time compared to the conventional schedule (1581 fewer doses and 2754 fewer visits were necessary to reach the optimal dose). Considering all these factors, the clinical profile of the proposed regime may be qualified as good. However, future studies are necessary in order to better adjust the schedule to avoid the delayed SR that occurred after the administration of the first two doses of Vial 3.
Adult↗
Multidisciplinary education and management program for children with asthma.
A multidisciplinary program for managing asthma in a pediatric population is discussed. A coordinated, multidisciplinary program for managing asthma in children was initiated in November 1997 at a U.S. Army medical center. The program, designed to improve care and decrease hospitalizations for asthma, was pharmacist managed and pulmonologist directed and was implemented by pediatricians. Patient education was provided by a pediatric clinical pharmacist or a nurse case manager; providers also received intensive education. Follow-up occurred at predetermined intervals and included asthma education, discussion of expectations and goals, analysis of metered-dose-inhaler and spacer technique, and assessment of compliance. Between November 1997 and January 1999, 210 inpatients were screened for asthma. One hundred seven were believed to have asthma and received inpatient asthma counseling and teaching. Of these 107 patients, 79 were enrolled in the program and monitored in the ambulatory care setting. Seventy-one (90%) of the 79 program enrollees were not rehospitalized during the ensuing two years. The number of children admitted to the hospital for asthma decreased from 147 in 1997 (a rate of 3.2 per 1000 population) to 93 in 1998 (2.1 per 1000) and to 87 in 1999 (1.9 per 1000). A multidisciplinary approach to the management of children with asthma may reduce hospitalizations of such patients.
Anti-Asthmatic Agents↗
Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients.
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DNA Mutational Analysis↗
Assessment of genetic variation explained by markers for wool traits in sheep via a segment mapping approach.
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Animals↗