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1.
Ann Ig ; 35(3): 297-307, 2023.
Article in English | MEDLINE | ID: mdl-35861691

ABSTRACT

Background: Hearing loss, occurring in 1-3/1,000 newborns in the well-babies population, is one of the most common congenital diseases, and hearing screening at birth still represents the only means for its early detection. Since 2011 the Emilia Romagna Regional Health Agency has recommended Newborn Hearing Screening for all babies at its birth points and for newborns moving to the region. The aims of this study are to analyze the results of this regional-based Newborn Hearing Screening program and to discuss the impact of the legislative endorsement on the organization. Material and methods: This is an observational retrospective chart study. The recordings of well-babies and babies at Neonatal Intensive Care Units were collected during the period from January 1st 2015 to December 31st 2020. The following data were included: Newborn Hearing Screening coverage, percentage of refer at otoacoustic emissions, prevalence and entity of hearing loss, unilateral/bilateral rate, presence of audiological risk factors. Results: More than 99% of a total of 198,396 newborns underwent the Newborn Hearing Screening test during the period January 1st 2015 to December 31st 2020, with a coverage ranging between 99.6% and 99.9%. Overall, the percentage of confirmed hearing loss cases was about 17-30 % of refer cases, 745 children received a diagnosis of hearing loss (prevalence 3.7/1,000). Considering profound hearing loss cases, these represent 13% of bilateral hearing loss. Conclusion: A regional-based Newborn Hearing Screening program is valuable and cost-effective. In our experience, the centralization of the data system and of the data control is crucial in order to implement its efficiency and effectiveness. Healthcare policies, tracking systems and public awareness are decisive for a successful programme implementation.


Subject(s)
Evoked Potentials, Auditory, Brain Stem , Hearing Loss , Infant , Child , Infant, Newborn , Humans , Retrospective Studies , Hearing Loss/diagnosis , Hearing Loss/epidemiology , Hearing Tests/methods , Otoacoustic Emissions, Spontaneous , Neonatal Screening/methods
2.
J Ultrasound ; 24(3): 349-353, 2021 Sep.
Article in English | MEDLINE | ID: mdl-31487034

ABSTRACT

Congenital lung malformations (CLMs) include a group of different disorders. With widespread use of antenatal ultrasonography (aUS) and increased use of pre-natal magnetic resonance imaging (MRI), CLMs are increasingly detected, nevertheless the best postnatal imaging approach is not yet well defined: newborns usually undergo several chest X-rays and eventually computed tomography to confirm the diagnosis. In this case series, we show lung ultrasound features of three different cases of congenital lung malformations, describing prenatal and postnatal images comparing different imaging techniques.


Subject(s)
Lung Diseases , Lung , Female , Humans , Infant , Infant, Newborn , Lung/abnormalities , Lung/diagnostic imaging , Lung Diseases/congenital , Lung Diseases/diagnostic imaging , Male , Pregnancy , Prenatal Diagnosis , Ultrasonography, Prenatal
3.
Int J Surg Case Rep ; 17: 28-30, 2015.
Article in English | MEDLINE | ID: mdl-26519813

ABSTRACT

INTRODUCTION: Congenital diaphragmatic hernia (CDH) presenting after 30 days of life is unusual and has a variant pattern of presentation. PRESENTATION OF CASE: We present a death case occurred to a 34-days-old infant. The infant arrived to our emergency department in cardiac arrest after having suffered from intermittent acute abdominal pain. Autopsy confirmed the presence of a right CDH, with herniation of the right lobe of the liver into the thorax. DISCUSSION: Most of the cases of CDH are diagnosed prenatally or in the neonatal period. However, some patients do not develop symptoms until after the neonatal period. The relevance of our case is the co-existence of right CDH and important hypotrophy of the right lobe of the liver. CONCLUSIONS: Evidence of this phenomenon represents an absolute novelty in the extant scientific literature. Even if rare, we suggest to suspect the presence of CDH in fetus with disparity in right and left liver lobe at prenatal ultrasound.

4.
J Pediatr Urol ; 9(3): 364-7, 2013 Jun.
Article in English | MEDLINE | ID: mdl-22658746

ABSTRACT

INTRODUCTION: Acquired megalourethra (AMU) after repair of proximal hypospadias can be a serious complication. An observational retrospective study of its incidence among different types of repair was performed. MATERIALS AND METHODS: Clinical charts of patients operated on for proximal hypospadias were reviewed. INCLUSION CRITERIA: all primary hypospadias operated in 1991-2004, with the meatus positioned in proximal penile, scrotal or perineal position. RESULTS: Of 770 hypospadias cases treated, 130 (16%) were proximal. Seventy-two patients (55%) were treated using preputial flaps: 36 with a tubularized preputial island flap (TIF) and 36 an onlay island flap (OIF). Fifty-eight patients (45%) underwent staged repairs: Belt-Fuquà (BF) in 18 and Bracka procedure in 40 cases. After a mean follow up of 16 years (range 6-19) the overall incidence of complications for each technique was: TIF 36%; OIF 33%; BF 25%; two-stage Bracka 7.5%. The most common complication encountered was neo-urethral fistula. AMU occurred in only 5 cases, none with associated distal urethral stenosis, all in the TIF and OIF groups, and all successfully treated by reduction re-do urethroplasty. CONCLUSION: A very small number of the patients operated using preputial island flaps techniques developed AMU. None of the staged repairs developed AMU, and this is the preferred choice in proximal hypospadias when the urethral plate requires division and/or substitution. All cases of AMU resolved after urethral tapering.


Subject(s)
Hypospadias/surgery , Surgical Flaps , Urethra/pathology , Urologic Surgical Procedures/adverse effects , Adolescent , Adult , Child , Dilatation, Pathologic , Humans , Male , Recurrence , Retrospective Studies , Urologic Surgical Procedures/methods , Young Adult
5.
Nutr Metab Cardiovasc Dis ; 23(7): 684-92, 2013 Jul.
Article in English | MEDLINE | ID: mdl-22633792

ABSTRACT

BACKGROUND AND AIMS: Variations in mixed platelet-leukocyte conjugate formation in human whole blood could be genetically determined. We quantified platelet and leukocyte activation and interaction in families with or without early myocardial infarction and evaluated their heritability, genetic correlation and linkage to the 9p21.3 region. METHODS AND RESULTS: The study population included 739 subjects (≥ 15 years old) from 54 large pedigrees, 23 with and 31 without familial myocardial infarction. Mixed platelet-leukocyte conjugates and markers of platelet or leukocyte activation (P-selectin, CD11b and L-selectin surface expression) were measured both before and after in vitro blood stimulation with collagen-ADP. All traits had significant genetic components (17.5-65.3% of the phenotypic variability), while shared household effects (0-39.6%) and environmental covariates (0-10.2%) tended to be smaller. Stimulated platelet-polymorphonuclear leukocyte (PMN) and platelet-monocyte conjugates showed the highest linkage to the 9p21.3 region (LOD = 0.94 and 1.33, respectively; empirical p value = 0.017 and 0.009). PMN markers resulted strongly genetically correlated between them in bivariate analysis among pairs of quantitative traits. CONCLUSION: This study supports a genetic regulation of human mixed platelet-leukocyte conjugates.


Subject(s)
Blood Platelets/pathology , Chromosomes, Human, Pair 9 , Leukocytes/pathology , Myocardial Infarction/genetics , Adult , Age Factors , Biomarkers/blood , Blood Platelets/metabolism , CD11b Antigen/blood , Cell Aggregation , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , L-Selectin/blood , Leukocytes/metabolism , Lod Score , Male , Middle Aged , Monocytes/metabolism , Monocytes/pathology , Myocardial Infarction/pathology , Neutrophils/metabolism , Neutrophils/pathology , P-Selectin/blood
7.
Farm. hosp ; 36(5): 403-409, sept.-oct. 2012. ilus, tab
Article in Spanish | IBECS | ID: ibc-105963

ABSTRACT

Objetivo: Determinar la frecuencia y las características de las reacciones alérgicas a medicamentos (RAM) en una unidad de cuidados intensivos pediátrica entre mayo y junio de 2009.MétodoSe realizó farmacovigilancia intensiva mediante el análisis diario del perfil de prescripción de todos los niños hospitalizados. Se analizaron las siguientes características de los pacientes: edad, sexo, medicamentos implicados, órganos y sistemas afectados, enfermedad ocasionada, mecanismo de la reacción adversa, presencia de polifarmacia, gravedad y evolución. Se calcularon las siguientes variables de las reacciones adversas: frecuencia, incidencia en los niños hospitalizados, incidencia por 100 niños-día y porcentaje de reacciones prevenibles. Resultados Fueron hospitalizados 123 niños de los cuales 24 presentaron al menos una reacción adversa. El total de reacciones adversas identificadas fue 45. La edad media fue 34 meses, 14 eran varones. La frecuencia fue 36,6% (IC 95% 28,4-46,4). Se identificó un promedio de 1,9 reacciones adversas por niño. La incidencia de RAM por 100 niños-día fue 10,4. Estuvieron implicados 66 medicamentos, siendo los antiepilépticos y diuréticos los grupos más frecuentes. Los sistemas más afectados fueron el metabólico y hematológico. El 61% de las reacciones eran prevenibles. Fueron graves 12 reacciones adversas, y un paciente falleció. Conclusiones Las reacciones adversas en los niños críticamente enfermos constituyen un problema de salud frecuente. Se destaca la necesidad de elaborar estrategias de promoción y prevención para disminuir su frecuencia y gravedad (AU)


Objective: To determine ADR frequency and characteristics of ADR in a paediatric intensivecare unit between may and june 2009.Method: All of the hospitalised children were under intensive pharmacosurveillance by means of daily analysis of their prescription profiles. The following patient characteristics wereanalysed: age, sex, drugs involved, affected organs and systems, triggered illness, adverse reaction mechanism, presence of polypharmacy, severity and course of the reaction. The following variables were recorded for adverse reactions: frequency, incidence in hospitalized children, incidence per 100 children/day and percentage of preventable reactions. Results: Of the 123 hospitalised children, 24 experienced at least one adverse reaction. The total number of identified adverse drug reactions was 45. Average age was 34 months, and14 patients were male. Frequency was 36.6% (CI 95% 28.4---46.4). Adverse reaction average was calculated at 1.9 reactions per child. The ADR incidence rate per 100 children/day was10.4. There were 66 drugs involved; the most common drug groups were antiepileptics and diuretics. Drug reactions most frequently affected the metabolic and haematological systems. Of the reactions, 61% were preventable. Twelve reactions were severe and 1 patient died. Conclusions: Adverse reactions are a frequent health problem among critically ill children. There is a pressing need to create awareness and prevention strategies to decrease their frequency and severity


Subject(s)
Humans , /epidemiology , Drug Monitoring/methods , /organization & administration , Pharmacovigilance , Child, Hospitalized/statistics & numerical data , Intensive Care Units, Pediatric/statistics & numerical data
8.
Farm Hosp ; 36(5): 403-9, 2012.
Article in Spanish | MEDLINE | ID: mdl-22871363

ABSTRACT

OBJECTIVE: To determine ADR frequency and characteristics of ADR in a paediatric intensive care unit between may and june 2009. METHOD: All of the hospitalised children were under intensive pharmacosurveillance by means of daily analysis of their prescription profiles. The following patient characteristics were analysed: age, sex, drugs involved, affected organs and systems, triggered illness, adverse reaction mechanism, presence of polypharmacy, severity and course of the reaction. The following variables were recorded for adverse reactions: frequency, incidence in hospitalised children, incidence per 100 children/day and percentage of preventable reactions. RESULTS: Of the 123 hospitalised children, 24 experienced at least one adverse reaction. The total number of identified adverse drug reactions was 45. Average age was 34 months, and 14 patients were male.Frequency was 36.6% (CI 95% 28.4-46.4). Adverse reaction average was calculated at 1.9 reactions per child. The ADR incidence rate per 100 children/day was 10.4. There were 66 drugs involved; the most common drug groups were antiepileptics and diuretics. Drug reactions most frequently affected the metabolic and haematological systems. Of the reactions, 61% were preventable. Twelve reactions were severe and 1 patient died. CONCLUSIONS: Adverse reactions are a frequent health problem among critically ill children. There is a pressing need to create awareness and prevention strategies to decrease their frequency and severity.


Subject(s)
Drug-Related Side Effects and Adverse Reactions/epidemiology , Intensive Care Units, Pediatric/statistics & numerical data , Adolescent , Adverse Drug Reaction Reporting Systems , Child , Child, Preschool , Critical Illness , Drug-Related Side Effects and Adverse Reactions/mortality , Female , Hospital Mortality , Humans , Infant , Infant, Newborn , Male
9.
Front Plant Sci ; 3: 312, 2012.
Article in English | MEDLINE | ID: mdl-23346091

ABSTRACT

Evolutionary studies that are aimed at defining the processes behind the present level and organization of crop genetic diversity represent the fundamental bases for biodiversity conservation and use. A Mesoamerican origin of the common bean Phaseolus vulgaris was recently suggested through analysis of nucleotide polymorphism at the nuclear level. Here, we have used chloroplast microsatellites to investigate the origin of the common bean, on the basis of the specific characteristics of these markers (no recombination, haploid genome, uniparental inheritance), to validate these recent findings. Indeed, comparisons of the results obtained through analysis of nuclear and cytoplasmic DNA should allow the resolution of some of the contrasting information available on the evolutionary processes. The main outcomes of the present study are: (i) confirmation at the chloroplast level of the results obtained through nuclear data, further supporting the Mesoamerican origin of P. vulgaris, with central Mexico representing the cradle of its diversity; (ii) identification of a putative ancestral plastidial genome, which is characteristic of a group of accessions distributed from central Mexico to Peru, but which have not been highlighted beforehand through analyses at the nuclear level. Finally, the present study suggests that when a single species is analyzed, there is the need to take into account the complexity of the relationships between P. vulgaris and its closely related and partially intercrossable species P. coccineus and P. dumosus. Thus, the present study stresses the importance for the investigation of the speciation processes of these taxa through comparisons of both plastidial and nuclear variability. This knowledge will be fundamental not only from an evolutionary point of view, but also to put P. coccineus and P. dumosus germplasm to better use as a source of useful diversity for P. vulgaris breeding.

10.
Theor Appl Genet ; 123(8): 1341-57, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21830108

ABSTRACT

Evolutionary studies in plant and animal breeding are aimed at understanding the structure and organization of genetic variations of species. We have identified and characterized a genomic sequence in Phaseolus vulgaris of 1,200 bp (PvSHP1) that is homologous to SHATTERPROOF-1 (SHP1), a gene involved in control of fruit shattering in Arabidopsis thaliana. The PvSHP1 fragment was mapped to chromosome Pv06 in P. vulgaris and is linked to the flower and seed color gene V. Amplification of the PvSHP1 sequence from the most agronomically important legume species showed a high degree of interspecies diversity in the introns within the Phaseoleae, while the coding region was conserved across distant taxa. Sequencing of the PvSHP1 sequence in a sample of 91 wild and domesticated genotypes that span the geographic distribution of this species in the centers of origin showed that PvSHP1 is highly polymorphic and, therefore, particularly useful to further investigate the origin and domestication history of P. vulgaris. Our data confirm the gene pool structure seen in P. vulgaris along with independent domestication processes in the Andes and Mesoamerica; they provide additional evidence for a single domestication event in Mesoamerica. Moreover, our results support the Mesoamerican origin of this species. Finally, we have developed three indel-spanning markers that will be very useful for bean germplasm characterization, and particularly to trace the distribution of the domesticated Andean and Mesoamerican gene pools.


Subject(s)
Crops, Agricultural/genetics , Genes, Plant/genetics , Genetic Variation , Nucleotides/genetics , Phaseolus/genetics , Base Pairing/genetics , Base Sequence , Central America , Chromosome Mapping , DNA, Intergenic/genetics , Genetic Linkage , Genetic Markers , Genetics, Population , INDEL Mutation/genetics , Molecular Sequence Data , Phylogeography , Population Dynamics , Quantitative Trait, Heritable , Recombination, Genetic/genetics , South America , Species Specificity
11.
Clin Ter ; 162(2): 99-106, 2011.
Article in Italian | MEDLINE | ID: mdl-21533314

ABSTRACT

OBJECTIVE: To propose long-term follow-up protocol to analyse clinical and functional aspects and evaluate the Quality of Life (QoL) of patients with Sacrococcygeal Teratoma (SCT). MATERIALS AND METHODS: The long-term follow-up of 14 out of 28 patients has been assessed through the retrospective review of data related to antenatal diagnosis, obstetric pathology and surgery, collected from July 1985 to December 2009. It has been accomplished by analysing functional and aesthetic outcomes and the QoL experienced by the patients with an average observation range of 121 months for each patient. RESULTS: Concerning the anorectal functionality, 14% of patients reported impairment of fecal continence while 36% had completely normal bowel habits. Other health problems varying from urinary incontinence to neurogenic bladder were reported by 36% of patients. Dealing with the functionality of lower limbs, 20% of patients exhibited minor dysfunctions while 7% major ones. Optimal aesthetic outcome of the surgical scar has been reported only by 21% of the specimen. The evaluation of QoL pointed out that 64% of patients are moderately satisfied while 36% presented problems. CONCLUSIONS: We believe that functional sequelae should play an important role during antenatal counselling and that the urological and anorectal follow-up for SCT patients should be long-term evaluated. Furthermore, aesthetic aspects and psychological support should be taken into account carefully especially during childhood.


Subject(s)
Intestinal Neoplasms , Quality of Life , Teratoma , Urologic Neoplasms , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Intestinal Neoplasms/surgery , Male , Retrospective Studies , Sacrococcygeal Region , Teratoma/surgery , Time Factors , Urologic Neoplasms/surgery
12.
Plant Biol (Stuttg) ; 13(2): 381-90, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21309985

ABSTRACT

Wild legumes constitute an important component of widespread pastures in the Mediterranean basin. This region is experiencing remarkable effects from climate change, and continuous monitoring of species and population dynamics is important in order to plan and enact valuable conservation programmes. Tripodion tetraphyllum (L.) Fourr. [=Anthyllis tetraphylla L.] (2n=16), belongs to the tribe Loteae (Fabaceae), and could be very important for soil protection and sward improvement in abandoned or degraded Mediterranean areas. This alternative pasture legume is very closely related to Lotus japonicus and has some important characteristics for survival of the species in difficult and overgrazed Mediterranean areas. In this study, we have investigated the molecular diversity and population structure of T. tetraphyllum from North Africa using ISSR markers and plastidial microsatellites. To date, this is the first study concerning the genetic diversity and geographic differentiation of T. tetraphyllum. Ninety genotypes from three North African countries were analysed according to ISSRs, cpSSRs and one phenotypic trait. T. tetraphyllum shows a clear geographical structure, with differentiation associated with longitudinal differences; moreover, there is a general reduction in genetic diversity from Morocco to Tunisia. With all the markers used, strong differentiation was seen among collection sites. Our data highlight a genetic diversity gradient and cline of distribution, indicating that T. tetraphyllum has extended its area of distribution from Morocco to Tunisia.


Subject(s)
Fabaceae/genetics , Genetic Variation , Genetics, Population , Phylogeny , Africa, Northern , DNA, Chloroplast/genetics , DNA, Plant/genetics , Genetic Markers , Genotype , Geography , Microsatellite Repeats , Minisatellite Repeats , Phenotype , Sequence Analysis, DNA
13.
Theor Appl Genet ; 121(5): 829-43, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20490446

ABSTRACT

This study focuses on the expansion of Phaseolus vulgaris in Europe. The pathways of distribution of beans into and across Europe were very complex, with several introductions from the New World that were combined with direct exchanges between European and other Mediterranean countries. We have analyzed here six chloroplast microsatellite (cpSSR) loci and two unlinked nuclear loci (for phaseolin types and Pv-shatterproof1). We have assessed the genetic structure and level of diversity of a large collection of European landraces of P. vulgaris (307) in comparison to 94 genotypes from the Americas that are representative of the Andean and Mesoamerican gene pools. First, we show that most of the European common bean landraces (67%) are of Andean origin, and that there are no strong differences across European regions for the proportions of the Andean and Mesoamerican gene pools. Moreover, cytoplasmic diversity is evenly distributed across European regions. Secondly, the cytoplasmic bottleneck that was due to the introduction of P. vulgaris into the Old World was very weak or nearly absent. This is in contrast to evidence from nuclear analyses that have suggested a bottleneck of greater intensity. Finally, we estimate that a relatively high proportion of the European bean germplasm (about 44%) was derived from hybridization between the Andean and Mesoamerican gene pools. Moreover, although hybrids are present everywhere in Europe, they show an uneven distribution, with high frequencies in central Europe, and low frequencies in Spain and Italy. On the basis of these data, we suggest that the entire European continent and not only some of the countries therein can be regarded as a secondary diversification center for P. vulgaris. Finally, we outline the relevance of these inter-gene pool hybrids for plant breeding.


Subject(s)
Gene Pool , Phaseolus/genetics , Americas , Chloroplasts/genetics , Europe , Genetic Variation , Genotype , Geography , Hybridization, Genetic , Microsatellite Repeats/genetics , Organ Size , Plant Proteins/metabolism , Principal Component Analysis , Seeds/anatomy & histology , Seeds/genetics
14.
Horm Res Paediatr ; 73(5): 386-9, 2010.
Article in English | MEDLINE | ID: mdl-20389110

ABSTRACT

BACKGROUND: The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). AIMS: To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. METHODS: Fifty-four girls affected by ICPP were divided into 2 groups. The first group (30 girls) was treated with triptorelin (3.75 mg, i.m. injection) every 28 days. The second group (24 girls) was treated with cyproterone acetate and triptorelin: cyproterone acetate (50 mg/m(2)) was administered every day for 8 weeks, and triptorelin (3.75 mg) was commenced 4 weeks after starting the cyproterone, then the intramuscular injection of triptorelin was repeated every 28 days. RESULTS: Eight of 54 girls (15%) had mild withdrawal bleeding. There were no differences in incidence between groups 1 and 2. Girls with pubertal uterus at pelvic ultrasound had a higher incidence of uterine bleeding than girls with infantile uterus (25 vs. 7%), but this difference was not significant. CONCLUSION: Co-administration of cyproterone acetate and GnRH analogues does not significantly decrease the incidence of uterine bleeding.


Subject(s)
Cyproterone Acetate/therapeutic use , Puberty, Precocious/drug therapy , Triptorelin Pamoate/therapeutic use , Uterine Hemorrhage/prevention & control , Child , Child, Preschool , Female , Humans , Retrospective Studies , Triptorelin Pamoate/administration & dosage , Ultrasonography , Uterus/diagnostic imaging , Uterus/drug effects
15.
Mol Ecol ; 18(4): 603-21, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19215582

ABSTRACT

Landraces are domesticated local plant varieties that did not experience a deliberate and intensive selection during a formal breeding programme. In Europe, maize landraces are still cultivated, particularly in marginal areas where traditional farming is often practiced. Here, we have studied the evolution of flint maize landraces from central Italy over 50 years of on-farm cultivation, when dent hybrid varieties were introduced and their use was widespread. We have compared an 'old' collection, obtained during the 1950s, before the introduction of hybrids, and a recent collection of maize landraces. For comparison, a sample of maize landraces from north Italy, and of improved germplasm, including hybrids and inbred lines were also used. A total of 296 genotypes were analysed using 21 microsatellites. Our results show that the maize landraces collected in the last 5-10 years have evolved directly from the flint landrace gene pool cultivated in central Italy before the introduction of modern hybrids. The population structure, diversity and linkage disequilibrium analyses indicate a significant amount of introgression from hybrid varieties into the recent landrace populations. No evidence of genetic erosion of the maize landraces was seen, suggesting that in situ conservation of landraces is an efficient strategy for preserving genetic diversity. Finally, the level of introgression detected was very variable among recent landraces, with most of them showing a low level of introgression; this suggests that coexistence between different types of agriculture is possible, with the adoption of correct practices that are aimed at avoiding introgression from undesired genetic sources.


Subject(s)
Chimera/genetics , Crops, Agricultural/genetics , Evolution, Molecular , Genetic Variation , Zea mays/genetics , DNA, Plant/genetics , Gene Flow , Genetics, Population , Genome, Plant , Genotype , Geography , Italy , Linkage Disequilibrium , Microsatellite Repeats , Models, Statistical , Selection, Genetic
16.
IEEE Trans Neural Netw ; 19(2): 363-6, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18269967

ABSTRACT

The problem addressed in this letter concerns the multiclassifier generation by a random subspace method (RSM). In the RSM, the classifiers are constructed in random subspaces of the data feature space. In this letter, we propose an evolved feature weighting approach: in each subspace, the features are multiplied by a weight factor for minimizing the error rate in the training set. An efficient method based on particle swarm optimization (PSO) is here proposed for finding a set of weights for each feature in each subspace. The performance improvement with respect to the state-of-the-art approaches is validated through experiments with several benchmark data sets.


Subject(s)
Artificial Intelligence , Cluster Analysis , Information Storage and Retrieval , Pattern Recognition, Automated , Nonlinear Dynamics , Reproducibility of Results
17.
Curr Genet ; 51(6): 377-92, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17426975

ABSTRACT

The main aim of this study was to test the patterns of sequence divergence and haplotype structure at the MAT locus of Pyrenophora teres, the causal agent of barley 'net blotch' disease. P. teres is a heterothallic ascomycete that co-occurs in two symptomatological forms, the net form (NF) and the spot form (SF). The mating-type genes MAT1-1-1 and MAT1-2-1 were sequenced from 22 NF isolates (12 MAT1-1-1 and 10 MAT1-2-1 sequences) and 17 SF isolates (10 MAT1-1-1 and seven MAT1-2-1 sequences) collected from Sardinian barley landrace populations and worldwide. On the basis of a parsimony network analysis, the two forms of P. teres are phylogenetically separated. More than 85% of the total nucleotide variation was found between formae speciales. The two forms do not share any polymorphisms. Six diagnostic nucleotide polymorphisms were found in the MAT1-1-1 intron (1) and in the MAT1-1-1 (3) and MAT1-2-1 (2) exons. Three diagnostic non-synonymous mutations were found, one in MAT1-1-1 and two in MAT1-2-1. For comparison with P. teres sequence data, the mating-type genes from Pyrenophora graminea were also isolated and sequenced. Divergence between P. graminea and P. teres is of a similar magnitude to that between NF and SF of P. teres. The MAT genes of P. graminea were closer to those of SF than to NF, with the MAT1-2-1 SF peptide not different from the MAT1-2-1 peptide of P. graminea. Overall, these data suggest long genetic isolation between the two forms of P. teres and that hybridization is rare or absent under field conditions, with each form having some particular niche specialization. This indicates that research on resistance to P. teres should consider the two forms separately, as different species.


Subject(s)
Ascomycota/classification , Evolution, Molecular , Genes, Mating Type, Fungal , Hordeum/microbiology , Phylogeny , Plant Diseases/microbiology , Ascomycota/genetics , Base Sequence , Chromosomes, Plant , DNA, Fungal , Genetic Variation , Polymorphism, Restriction Fragment Length
18.
Cir. pediátr ; 19(3): 185-187, jul. 2006. ilus
Article in Es | IBECS | ID: ibc-051800

ABSTRACT

En los años ochenta, fue ampliamente utilizada la técnica de substitución de la uretra distal mediante un colgajo de prepucio tubulizado en las hipospadias proximales. No obstante hoy ha sido casi completamente abandonada, ya que un número importante de pacientes entonces tratados con este método se presentan con síntomas obstructivos. En el presente trabajo se presenta la experiencia inicial de una estrategia alternativa al re-do completo con tres pacientes de 6, 9 y 27 años de edad, en los cuales existía una estenosis limitada a la anastomosis de la uretra proximal y el colgajo prepucial tubulizado. Se realizó una uretroplastia de ampliación dorsal con injerto de mucosa bucal del labio. Los controles a un año muestran la desaparición de los síntomas obstructivos. La técnica aquí propuesta es, en la opinión de los autores, la más equilibrada porque ofrece a los pacientes resultados constantes en el tiempo unido a una menor invasividad quirúrgica (AU)


In the early ’80s, tubularized preputial flap has been intensively used for proximal hypospadias. Even if not yet used today, there are a conspicuous number of patients treated in that time that today present with obstructive symptoms. In this paper, authors propose an initial experience of an alternative strategy to the complete re-do. Three patients (6, 9 and 27 years old) were diagnosed of stenosis at the junction of the tubularized preputial flap and the native urethra. Proximal and distal urethra was normal at the urethrogram in all cases. A augmentation was performed. One year follow up is free of obstructive symptoms and flowmetry is normal. The technique proposed seems to be the best balanced owing to a minimal invasivity and better results along time (AU)


Subject(s)
Male , Female , Child , Adult , Humans , Urethral Stricture/complications , Urethral Stricture/diagnosis , Urethral Stricture/surgery , Hypospadias/complications , Hypospadias/diagnosis , Hypospadias/surgery , Urethral Stricture/pathology , Anastomosis, Surgical/methods , Retrograde Obturation/methods , Urethra/pathology , Urethra
19.
Cir Pediatr ; 19(3): 185-7, 2006 Jul.
Article in Spanish | MEDLINE | ID: mdl-17240954

ABSTRACT

In the early '80s, tubularized preputial flap has been intensively used for proximal hypospadias. Even if not yet used today, there are a conspicuous number of patients treated in that time that today present with obstructive symptoms. In this paper, authors propose an initial experience of an alternative strategy to the complete re-do. Three patients (6, 9 and 27 years old) were diagnosed of stenosis at the junction of the tubularized preputial flap and the native urethra. Proximal and distal urethra was normal at the urethrogram in all cases. A augmentation was performed. One year follow up is free of obstructive symptoms and flowmetry is normal. The technique proposed seems to be the best balanced owing to a minimal invasivity and better results along time.


Subject(s)
Hypospadias/surgery , Urethral Stricture/surgery , Urogenital Surgical Procedures/methods , Adult , Cheek/surgery , Child , Humans , Male , Mucous Membrane/transplantation , Transplantation, Autologous
20.
Horm Metab Res ; 37(12): 751-6, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16372229

ABSTRACT

BACKGROUND: Growth hormone (GH) treatment in patients with GH deficiency (GHD) can determine changes in the thyroid function. The clinical significance of these changes remains controversial, and all studies have so far covered rather a short period--usually no longer than one year. OBJECTIVE: To determine the effect of long-term recombinant hGH treatment in children with idiopathic GHD on the thyroid function. PATIENTS AND METHODS: Nineteen prepubertal children (12 boys and 7 girls, mean age 9.2 +/- 3.1 years) with idiopathic GHD were studied and followed for twenty-four months. None of the patients showed multiple pituitary hormone deficiencies. Nineteen healthy children matched for age and sex acted as controls. RESULTS: Patients with GHD showed a significant increase in TT (3) at twelve months and in FT (3) at six and twelve months after starting GH treatment, with a significant decrease at eighteen and twenty-four months. TT (4) level decreased significantly at twelve months and increased significantly at eighteen and twenty-four months. FT (4) also decreased, but only slightly, after twelve months of hGH treatment, and then increased significantly at twenty-four months. TSH levels did not vary significantly during the course of therapy. TT (3)/TT (4) and FT (3)/FT (4) ratios increased significantly after six and twelve months of therapy and significantly decreased later, approaching pre-therapy values. The SDS of Growth Velocity (SDS-GV) increased remarkably during the first year of therapy and then decreased significantly during the second year, although it remained significantly higher than the pre-therapy values. TT (3) and TT (3)/TT (4) ratio displayed a significant correlation with SDS-GV at twelve months of therapy. In a multiple regression analysis with age, bone age, parental height, GH dose, TT (3,) TT (3)/TT (4), and the SDS of IGF-I, only the TT (3)/TT (4) ratio at twelve months of therapy (p < 0.001) was identified as a significant predictor of SDS-GV. CONCLUSION: Our data confirm that changes in thyroid function are present in GHD children during long-term hGH therapy. These changes probably resulted from the effect of hGH on the peripheral metabolism of thyroid hormones and appear to be transitory, disappearing during the second year of hGH treatment. We speculate on the functional significance of these changes, and in particular, on their role in catch-up growth after hGH therapy.


Subject(s)
Growth Disorders/drug therapy , Human Growth Hormone/deficiency , Human Growth Hormone/therapeutic use , Thyroid Gland/drug effects , Body Height/drug effects , Child , Female , Follow-Up Studies , Growth Disorders/blood , Humans , Male , Matched-Pair Analysis , Recombinant Proteins , Reference Values , Thyroid Gland/physiopathology , Thyroid Hormones/blood
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