Lactoferrin gene polymorphisms associated with clinical mastitis in Honduran Holstein inheritance cows.

BACKGROUND: Lactoferrin (LTF) is an iron-binding glycoprotein found in milk and other exocrine secretion with antibacterial activity proposed as an alternative to mastitis treatment or prevention. LTF has been proposed as a candidate gene for mastitis resistance selection. The aim of this paper was to assess LTF promotor to explore variations with potential association to mastitis resistance in dairy cows from Honduras. METHODS: A resequencing of promotor and Exon I of LTF gene in extreme mastitis susceptibility cows (126 Holstein and Holstein crossbred) was performed. RESULTS: Eight polymorphisms were found in promotor region, four of them were novel variations. Two were important by frequency among extreme groups, but a polymorphism in - 421 A/T position was significantly (P = 0.0188) associated to mastitis susceptibility. CONCLUSION: Results support the key role of regulatory region of LTF gene. Some candidate genes are proposed in association with mastitis traits and implications are discussed.

TPEN selectively eliminates lymphoblastic B cells from bone marrow pediatric acute lymphoblastic leukemia patients.

B-cell acute lymphoblastic leukemia (B-ALL) is a hematologic disorder characterized by the abnormal proliferation and accumulation of immature B-lymphoblasts arrested at various stages of differentiation. Despite advances in treatment, a significant percentage of pediatric patients with precursor B-ALL still relapse. Therefore, alternative therapies are needed to improve the cure rates for pediatric patients. TPEN (N, N, N', N'-tetrakis(2-pyridylmethyl)-ethylenediamine) is a pro-oxidant agent capable of selectively inducing apoptosis in leukemia cell lines. Consequently, it has been suggested that TPEN could be a potential agent for oxidative therapy. However, it is not yet known whether TPEN can selectively destroy leukemia cells in a more disease-like model, for example, the bloodstream and bone marrow (BM), ex vivo. This investigation is an extension of a previous study that dealt with the effect of TPEN on ex vivo isolated/purified refractory B-ALL cells. Here, we evaluated the effect of TPEN on whole BM from nonleukemic patients (control) or pediatric patients diagnosed with de novo B-ALL or refractory B-ALL cells by analyzing the hematopoietic cell lineage marker CD34/CD19. Although TPEN was innocuous to nonleukemic BM (n = 3), we found that TPEN significantly induced apoptosis in de novo (n = 5) and refractory B-ALL (n = 6) leukemic cell populations. Moreover, TPEN significantly increased the counts of cells positive for the oxidation of the stress sensor protein DJ-1, a sign of the formation of H2O2, and significantly increased the counts of cells positive for the pro-apoptotic proteins TP53, PUMA, and CASPASE-3 (CASP-3), indicative of apoptosis, in B-ALL cells. We demonstrate that TPEN selectively eliminates B-ALL cells (CD34 + /CD19 +) but no other cell populations in BM (CD34 + /CD19-; CD34-/CD19 + ; CD34-/CD19-) independent of age, diagnosis status (de novo or refractory), sex, karyotype, or immunophenotype. Understanding TPEN-induced cell death in leukemia cells provides insight into more effective therapeutic oxidation-inducing anticancer agents.

Bovine dopamine receptors DRD1, DRD4, and DRD5: genetic polymorphisms and diversities among ten cattle breeds.

The aim of this study was to analyze the allelic frequency distribution and segregation among breeds and/or between different cattle genetic groups of four novel single nucleotide polymorphisms of the bovine DRD1 and DRD5 genes and one reported SNP from the DRD4 gene. One hundred and nine-animals from ten different cattle breeds were genotyped and allelic frequencies for each locus were estimated. There were significant differences in the allelic frequencies (P < 0.05) among breeds for the DRD1 and DRD5 markers. The allelic frequencies for markers DRD1-825A>G and DRD5-378C>T were also significantly different between groups differing in genetic background. Because differences in temperament have been reported between Bos taurus taurus and B. taurus indicus breeds and their crosses, further studies are needed to investigate if any association exists between described markers and cattle behavior traits.

Association of polymorphisms in growth hormone and leptin candidate genes with live weight traits of Brahman cattle.

Polymorphisms in candidate genes can produce significant and favorable changes in the phenotype, and therefore are useful for the identification of the best combination of favorable variants for marker-assisted selection. In the present study, an assessment to evaluate the effect of 11 single nucleotide polymorphisms (SNPs) in candidate genes on live weight traits of registered Brahman cattle was performed. Data from purebred bulls were used in this assessment. The dataset included birth (BW), weaning (WW), and yearling (YW) weights. A panel of 11 SNP markers, selected by their formerly reported or apparent direct and indirect association with live weight traits, was included in an assessment previously confirming their minimum allele frequency (<0.05). Live weights were adjusted BW (aBW), WW (aWW), and YW (aYW) using a generalized linear model, which included the fixed effects of herd and season of birth and the random effect of the sire and year of birth. An SNP in a growth hormone gene (GH4.1) was significantly related to aWW (P = 0.035) with an estimate substitution effect of 3.97 kg (P = 0.0210). In addition, a leptin SNP (LEPg.978) was significantly associated with aYW (P = 0.003) with an estimate substitution effect of 9.57 kg (P = 0.0007). The results suggest that markers GH4.1 and LEPg.978 can be considered as candidate loci for assisted genetic improvement programs in Mexican Brahman cattle.

Genetic trends for live weight traits reflect breeding strategies in registered Charolais Farms in Mexico.

Genetic trends are commonly used to verify genetic improvement; however, there are few reports on beef cattle in Mexico. Data from 1998 to 2013 from four Charolais bull breeding farms were examined to verify the genetic responses to different breeding management and selection criteria. Analysis included the comparison of regression lines of breeding values for birth (BW), weaning (WW) and yearling weights (YW), and maternal weaning weight (MWW) on the year of birth of the animals. Results revealed differential genetic progress for BW and YW and indicated that the overall analysis may have diluted the perception of genetic progress from the farmer's point of view. The use of breeding values as a tool for selection is effective to achieve genetic progress, even in negatively correlated traits, such as birth weight and yearling weight.

Structure and phylogenetic diversity of post-fire ectomycorrhizal communities of maritime pine.

Environmental disturbances define the diversity and assemblage of species, affecting the functioning of ecosystems. Fire is a major disturbance of Mediterranean pine forests. Pines are highly dependent on the ectomycorrhizal (EM) fungal symbiosis, which is critical for tree recruitment under primary succession. To determine the effects of time since fire on the structure and recovery of EM fungal communities, we surveyed the young Pinus pinaster regenerate in three sites differing in the elapsed time after the last fire event. Pine roots were collected, and EM fungi characterized by sequencing the internal transcribed spacer (ITS) and the large subunit (LSU) regions of the nuclear ribosomal (nr)-DNA. The effects of the elapsed time after fire on the EM community structure (richness, presence/absence of fungi, phylogenetic diversity) and on soil properties were analysed.Fungal richness decreased with the elapsed time since the fire; although, the phylogenetic diversity of the EM community increased. Soil properties were different depending on the elapsed time after fire and particularly, the organic matter, carbon-to-nitrogen (C/N) ratio, nitrogen and iron significantly correlated with the assemblage of fungal species. Ascomycetes, particularly Tuberaceae and Pezizales, were significantly over-represented on saplings in the burned site. On seedlings, a significant over-representation of Rhizopogonaceae and Atheliaceae was observed in the most recently burned site, while other fungi (i.e. Cortinariaceae) were significantly under-represented. Our results are consistent with the hypothesis that fire can act as a selective agent by printing a phylogenetic signal on the EM fungal communities associated with naturally regenerated pines, pointing out to some groups as potential fire-adapted fungi.

Cervical human papillomavirus infection in Mexican women with systemic lupus erythematosus or rheumatoid arthritis.

Cervical human papillomavirus (HPV+) infection is associated with an increased risk of cervical dysplasia. Although the frequency of HPV+ in systemic lupus erythematosus (SLE) has been investigated in some races its prevalence in Hispanic women is still unknown. This cross-sectional study evaluated the prevalence of cervical HPV+ in Mexican women with SLE (n = 34) or rheumatoid arthritis (RA) (n = 43) and in healthy controls (n = 146). These women were interviewed about risk factors for sexually transmitted infections and cervical cytology analysis was performed. HPV+ viral types were identified using PCR: HPV+ was observed in 14.7% of SLE, 27.9% of RA and 30.8% of controls. High-risk HPV types were observed in 11.7% of women with SLE, 27.9% of women with RA, and in 26% of the controls. High-risk viral types 58, 35 and 18 were the most frequently identified in SLE. Two women with SLE had a high-grade squamous intraepithelial lesion and one had cervical cancer. An association was observed between methotrexate utilization, longer duration of therapy with prednisone, and HPV+ in RA or SLE. Thus, there is a high prevalence of cervical HPV infection in Mexican women with SLE or RA, and physicians must be vigilant in preventing the development of cervical dysplasia.

Association of TP53 gene codon 72 polymorphism with endometriosis in Mexican women.

The TP53 tumor suppressor gene plays an important role in cell cycle regulation; polymorphisms of this gene have been associated with endometriosis. We examined the role of TP53 codon 72 polymorphism by comparing genotypes of 235 healthy Mexican women (controls with surgically excluded endometriosis) with the genotypes of 151 Mexican women with endometriosis. The observed genotype frequencies for controls and endometriosis patients were 8 and 22% for proline/proline (Pro/Pro), 30 and 34% for proline/arginine (Pro/Arg), and 62 and 44% for arginine/arginine (Arg/Arg), respectively. We found that odds ratio (OR) = 3.3; 95% confidence intervals (95%CI) = 1.7-6.4; P = 0.0001. The association was also evident in the comparison of the distributions of genotypes Pro/Pro and Pro/Arg in patients with moderate-to-severe endometriosis; OR = 1.9; 95%CI = 0.95-3.9; P = 0.049. We suggest that genotype Pro/Pro of codon 72 polymorphism in TP53 contributes significantly to endometriosis susceptibility in the Mexican population.

Human papillomavirus viral load in cervical intraepithelial neoplasia as a prognostic factor in a Mexican population.

Persistent infection with human papillomavirus (HPV) has been recognized as the main etiological factor of morbimortality in cervical cancer. Several factors have been associated with the development of cervical disease, but viral load has recently been proposed as an indicator of cervical neoplasia. Therefore, a single measurement of viral load could be a suitable biomarker. We examined HPV viral load as a prognostic biomarker of cervical neoplasia. We used cervical scrapes to determine the total HPV viral load of 46 Mexican patients with various stages of cervical intraepithelial neoplasia (CIN) using hybrid capture assay coupled with a quantitative polymerase chain reaction method for cellularity estimation. Viral load values of CIN2 and CIN3 samples were compared with samples without cervical pathology (WP); all values of viral load were normalized by number of cells analyzed. The analysis showed significant differences in viral load between CIN2 and WP samples (P = 0.01) and between CIN3 and WP samples (P = 0.02). By contrast, no significant difference was detected between viral loads in CIN2 and CIN3 samples. The results showed significant difference between viral loads in CIN2 and CIN3 samples and that in WP samples. HPV viral load was significantly different between patients with CIN2-CIN3 and those with WP and can be used as a predictor of lesions.

Differential analysis of the bacterial community in colostrum samples from women with gestational diabetes mellitus and obesity.

Gestational Diabetes Mellitus (GDM) and obesity affect the functioning of multiple maternal systems and influence colonization of the newborn gastrointestinal through the breastmilk microbiota (BMM). It is currently unclear how GDM and obesity affect the human BMM composition. Here, we applied 16S-rRNA high-throughput sequencing to human colostrum milk to characterize BMM taxonomic changes in a cohort of 43 individuals classified in six subgroups according to mothers patho-physiological conditions (healthy control (n = 18), GDM (n = 13), or obesity (n = 12)) and newborn gender. Using various diversity indicators, including Shannon/Faith phylogenetic index and UniFrac/robust Aitchison distances, we evidenced that BMM composition was influenced by the infant gender in the obesity subgroup. In addition, the GDM group presented higher microbial diversity compared to the control group. Staphylococcus, Corynebacterium 1, Anaerococcus and Prevotella were overrepresented in colostrum from women with either obesity or GDM, compared to control samples. Finally, Rhodobacteraceae was distinct for GDM and 5 families (Bdellovibrionaceae, Halomonadaceae, Shewanellaceae, Saccharimonadales and Vibrionaceae) were distinct for obesity subgroups with an absolute effect size greater than 1 and a q-value ≤ 0.05. This study represents the first effort to describe the impact of maternal GDM and obesity on BMM.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

We describe the use of antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular defects identified in methylmalonic acidemia (MMA) and propionic acidemia (PA). The three new point mutations described in deep intronic regions increase the splicing scores of pseudoexons or generate consensus binding motifs for splicing factors, such as SRp40, which favor the intronic inclusions in MUT (r.1957ins76), PCCA (r.1284ins84), or PCCB (r.654ins72) messenger RNAs (mRNAs). Experimental confirmation that these changes are pathogenic and cause the activation of the pseudoexons was obtained by use of minigenes. AMOs were targeted to the 5? or 3? cryptic splice sites to block access of the splicing machinery to the pseudoexonic regions in the pre-mRNA. Using this antisense therapeutics, we have obtained correctly spliced mRNA that was effectively translated, and propionyl coenzyme A (CoA) carboxylase (PCC) or methylmalonylCoA mutase (MCM) activities were rescued in patients' fibroblasts. The effect of AMOs was sequence and dose dependent. In the affected patient with MUT mutation, close to 100% of MCM activity, measured by incorporation of (14)C-propionate, was obtained after 48 h, and correctly spliced MUT mRNA was still detected 15 d after treatment. In the PCCA-mutated and PCCB-mutated cell lines, 100% of PCC activity was measured after 72 h of AMO delivery, and the presence of biotinylated PCCA protein was detected by western blot in treated PCCA-deficient cells. Our results demonstrate that the aberrant inclusions of the intronic sequences are disease-causing mutations in these patients. These findings provide a new therapeutic strategy in these genetic disorders, potentially applicable to a large number of cases with deep intronic changes that, at the moment, remain undetected by standard mutation-detection techniques.

Polymorphisms in the IGF1 gene and their effect on growth traits in Mexican beef cattle.

The IGF1 gene (insulin-like growth factor 1) is a candidate gene for marker-assisted selection strategies. A single nucleotide polymorphism in the promoter region (IGF1/SnaBI) has been reported to be associated with production traits in several cattle breeds. Here, we report its allelic frequencies in Charolais and Beefmaster breeds; we confirm its association with three growth traits: weaning weight, weaning weight adjusted to 210 days and preweaning weight gain in the Charolais breed. In addition, we designed a strategy to search these breeds for new polymorphisms in four coding regions of the gene. A C/A transversion was detected in intron 4, but it was not associated with the growth traits. A single nucleotide polymorphism (IGF1/SnaBI) is proposed as a selection marker for Mexican Charolais cattle; validation of its association with weaning weight, weaning weight adjusted to 210 days and preweaning weight gain, could complement the genetic evaluations of this breed through marker-assisted management strategies.

Antimicrobial interventions to reduce Salmonella and Campylobacter populations and improve shelf life of quail carcasses.

Quail (Coturnix japonica) is processed and marketed as fresh meat, with limited shelf life. The objective of this study was to evaluate the efficacy of antimicrobial interventions during slaughter on reducing Salmonella and Campylobacter contamination and to determine the microbiological shelf life of quail during refrigerated (4°C) storage. Three antimicrobials, peracetic acid (400 ppm; PAA), Citrilow (pH 1.2), and Cecure (cetylpyridinium chloride [CPC], 450 ppm), along with a water and no-treatment control were evaluated. Quail carcasses (n = 75) were inoculated with a cocktail of nalidixic acid-resistant Salmonella Typhimurium and gentamicin-resistant Campylobacter coli. After 30 min of attachment time, quail carcasses were submerged in each antimicrobial solution for 20 s with air agitation. Noninoculated quail carcasses (n = 25) were similarly treated, packaged, and stored under refrigeration (4°C). Aerobic plate counts (APC), psychrotroph counts (PC), Enterobacteriaceae counts (ENT), total coliform counts (TCC), and Escherichia coli counts on quail carcasses were determined on 1, 4, 7, and 10 d. Salmonella and Campylobacter populations were determined by plating on Petrifilm APC supplemented with 200-ppm nalidixic acid and Campy Cefex agar supplemented with 200-ppm gentamycin, respectively. No significant reductions in (P > 0.01 log cfu/mL) in APC, PC, ENT, TCC, and E. coli counts were observed on carcasses submerged in water. However, treatments with PAA, Citrilow, and CPC significantly reduced (P ≤ 0.05) Salmonella and Campylobacter coli contamination. Citrilow showed greater (P ≤ 0.05) reduction in Salmonella and Campylobacter population (1.90 and 3.82 log cfu/mL reduction, respectively) to PAA and CPC. Greater (P ≤ 0.05) reductions in APC, PC, ENT, TCC, and E. coli counts (2.22, 1.26, 1.47, 1.52, and 1.59 log cfu/mL, respectively) were obtained with the application of CPC. Application of antimicrobial interventions resulted in a reduction in Campylobacter and Salmonella, APC, PC, and ENT populations after treatments (day 0) and throughout the storage period (day 10). Use of antimicrobial interventions after slaughter can improve the microbiological safety and shelf life of quail.

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

Development of pseudoexon exclusion therapies by antisense modification of pre-mRNA splicing represents a type of personalized genetic medicine. Here we present the cellular antisense therapy and the cell-based splicing assays to investigate the effect of two novel deep intronic changes c.1957-898A>G and c.1957-920C>A identified in the methylmalonyl-coenzyme A (CoA) mutase (MUT) gene. The results show that the nucleotide change c.1957-898A>G is a pathological mutation activating pseudoexon insertion and that antisense morpholino oligonucleotide (AMO) treatment in patient fibroblasts leads to recovery of MUT activity to levels 25 to 100% of control range. On the contrary, the change c.1957-920C>A, identified in two fibroblasts cell lines in cis with c.1885A>G (p.R629G) or c.458T>A (p.D153V), appears to be a rare variant of uncertain clinical significance. The functional analysis of c.1885A>G and c.458T>A indicate that they are the disease-causing mutations in these two patients. The results presented here highlight the necessity of scanning the described intronic region for mutations in MUT-affected patients, followed by functional analyses to demonstrate the pathogenicity of the identified changes, and extend previous work of the applicability of the antisense approach in methylmalonic aciduria (MMAuria) for a novel intronic mutation.

Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

Werner's syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and "bird-like" facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.

Prescribing trends of systemic antibiotics by periodontists in Australia.

BACKGROUND: Antibiotics are a common systemic pharmaceutical therapy in periodontal conditions for dental practitioners as well as specialists. However, there is limited information about prescribing patterns amongst the periodontists within Australia. The objective of this study is to examine current patterns and perceptions in prescribing systemic antibiotics for the treatment of periodontal and peri-implant diseases. METHODS: An online questionnaire was disseminated to Australian practicing members of the Australia and New Zealand Academy of Periodontists (ANZAP) to determine their antibiotic prescribing patterns for different periodontal conditions. Indications that were analyzed included: chronic periodontitis, plaque-induced gingivitis, aggressive periodontitis, acute gingival and periodontal conditions, conditions associated with implants and implant placement, periodontal regeneration, and mucogingival surgery. RESULTS: Out of the 50 members that participated in the study, 38 completed the questionnaire. Systemic antibiotics prescription patterns varied markedly for different periodontal or peri-implant diseases among respondents. 79% reported prescription of systemic antibiotics in the treatment of chronic periodontitis whereas 52.6%, 55.3%, 18.4% of the respondents did so for periodontal regeneration procedures, implant placement surgery, and mucogingival surgery, respectively. Azithromycin, the combination of Amoxicillin and Metronidazole, and Amoxicillin were the three most commonly prescribed systemic antibiotics. CONCLUSION: Based on the results of this survey, systemic antibiotics are widely used by the group of periodontists surveyed in this study in Australia with varying rates and patterns for different periodontal and peri-implant conditions. The current study highlights the need for recommendations and guidelines in the prescription of antibiotics for periodontal and peri-implant conditions.

[Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents]. / Traducción y validación al español del módulo neuromuscular de la escala Pediatric Quality of Life Inventory (PedsQL): evaluación de la calidad de vida autopercibida por niños de 5-7 años con enfermedades neuromusculares y sus padres.

INTRODUCTION: The recent advances in the therapies for some neuromuscular disorders imply a better prognosis. As a consequence, health-related quality of life has emerged as a core outcome. It is particularly important to know both the self-perceived health-related quality of life by children, as soon as possible, as well as the parental perception. Therefore, it is essential to have valid and specific scales for proper assessment. AIM: To assess the validity and reliability of the Spanish version of Pediatric Quality of Life Inventory (PedsQL) Neuromuscular Module for self-perceived and parent perceived quality of life of children aged 5-7 with neuromuscular disorders. SUBJECTS AND METHODS: Cross-cultural validity of the Spanish version was carried out with the permission of the Mapi-Research-Trust. Subsequently, a test-retest was administered to 27 children aged 5-7 and 37 parents in order to evaluate internal consistency, intra-observer reliability and construct validity. RESULTS: The Cronbach alpha coefficient showed good internal consistency for children and was rated as excellent by parents. Furthermore, the intra-observer correlation indicated an excellent reliability for both. Construct validity analysis suggested that a new scale structure with more dimensions might be more adequate. Moreover, said structure will also explain a greater percentage of variability. CONCLUSION: The Spanish version of PedsQL Neuromuscular Module for the self-perceived and parent-perceived quality of life of children aged 5-7 showed good internal consistency and reliability.

TITLE: Traducción y validación al español del módulo neuromuscular de la escala Pediatric Quality of Life Inventory (PedsQL): evaluación de la calidad de vida autopercibida por niños de 5-7 años con enfermedades neuromusculares y sus padres.Introducción. Los recientes avances en el abordaje terapéutico de las enfermedades neuromusculares pediátricas han permitido un mejor pronóstico y, en consecuencia, surge la necesidad de medir la calidad de vida relacionada con la salud como parte de un abordaje integral. Es importante disponer de instrumentos válidos y específicos para su correcta valoración que contemplen la calidad de vida relacionada con la salud tanto autopercibida por los niños como por los padres. Objetivo. Evaluar la validez y la fiabilidad de la versión española del módulo neuromuscular de la Pediatric Quality of Life Inventory (PedsQL) para la medición de la calidad de vida autopercibida por niños de 5 a 7 años con enfermedades neuromusculares y la de sus padres. Sujetos y métodos. Con autorización de Mapi-Research-Trust, se procedió a la adaptación transcultural de la versión española de la escala. Posteriormente, se realizó un test-retest a 27 niños de 5 a 7 años y a 37 padres para evaluar la consistencia interna, la fiabilidad y la validez de constructo. Resultados. El coeficiente alfa de Cronbach mostró una consistencia interna buena para los niños y excelente para los padres. La correlación intraobservador indicó una excelente fiabilidad para ambos. La validez de constructo sugirió que una estructura de más dimensiones podría ser más adecuada y explicaría un mayor porcentaje de variabilidad. Conclusiones. La versión española del módulo neuromuscular de la PedsQL para evaluar calidad de vida de niños de 5 a 7 años con enfermedades neuromusculares y de sus padres tiene buena consistencia interna y fiabilidad.

[Translation and transcultural adaptation of the Toe Walking Tool: screening tool of toe walking patients]. / Traduccion y adaptacion transcultural de la Toe Walking Tool: herramienta para el cribado de la marcha de puntillas.

INTRODUCTION: The Toe Walking Tool (TWT) is a clinical screening instrument which helps in the differentiation of children with normal development, idiopathic toe-walking or toe-walking due to a medical cause. AIM: To carry out the translation and cross-cultural adaptation of the TWT for the Spanish pediatric population and to evaluate its content validity. SUBJECTS AND METHODS: This paper was carried out following an inverted method of translation and back-translation. Once the pre-final Spanish version was obtained, its analysis was conducted through the Delphi method by a panel of experts. The content validity of the tool explores its clarity, viability, applicability and usefulness. RESULTS: An expert panel composed by 15 professionals determine the content validity of the Spanish version of the TWT. The questionnaire translated and adapted transculturally into Spanish presented an excellent global content validity index (0.94) and the expert committee considered that the scale was easily understandable, viable, simple to apply and useful in the pediatric setting. CONCLUSIONS: The Spanish version of the TWT presents an excellent content validity and is an understandable, viable, simple and useful assessment tool. It is necessary to carry out future studies to analyze its psychometric properties with a Spanish pediatric population.

TITLE: Traduccion y adaptacion transcultural de la Toe Walking Tool: herramienta para el cribado de la marcha de puntillas.Introduccion. La Toe Walking Tool (TWT) es una herramienta clinica de cribado que permite discriminar a los niños con desarrollo normal de los que presentan marcha de puntillas idiopatica o marcha de puntillas de origen medico. Objetivo. Realizar la traduccion y adaptacion transcultural de la TWT para la poblacion infantil española y evaluar su validez de contenido. Sujetos y metodos. El proceso se realizo segun el metodo invertido de traduccion-retrotraduccion. Una vez obtenida la version prefinal en castellano, se llevo a cabo su analisis mediante el metodo Delphi por parte de un panel de expertos para analizar su validez de contenido, asi como la comprension, viabilidad, aplicabilidad y utilidad de la herramienta. Resultados. Se constituyo un panel de expertos compuesto por 15 profesionales que determinaron la validez de contenido de la version española de la TWT. El cuestionario traducido y adaptado transculturalmente al castellano presento un indice de validez de contenido global excelente (0,94). A traves del metodo Delphi se determino que la escala era comprensible, viable, de aplicacion sencilla y util en el ambito pediatrico. Conclusiones. La version en castellano de la TWT presenta una excelente validez de contenido y se considera un instrumento comprensible, viable, sencillo y util con aplicacion en la poblacion pediatrica española. En futuros estudios resulta necesario analizar sus caracteristicas psicometricas en niños con marcha de puntillas.

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the biochemical and clinical phenotype of 32 MMA patients according to their genotype, and to study the mutant mRNA stability by real-time PCR analysis. Using cellular and biochemical methods, we classified our patient cohort as having the MMA forms mut (n = 19), cblA (n = 9) and cblB (n = 4). All the mut (0) and some of the cblB patients had the most severe clinical and biochemical manifestations, displaying non-inducible propionate incorporation in the presence of hydroxocobalamin (OHCbl) in vitro and high plasma odd-numbered long-chain fatty acid (OLCFA) concentrations under dietary therapy. In contrast, mut (-) and cblA patients exhibited a milder phenotype with propionate incorporation enhanced by OHCbl and normal OLCFA levels under dietary therapy. No missense mutations identified in the MUT gene, including mut (0) and mut (-) changes, affected mRNA stability. A new sequence variation (c.562G>C) in the MMAA gene was identified. Most of the cblA patients carried premature termination codons (PTC) in both alleles. Interestingly, the transcripts containing the PTC mutations were insensitive to nonsense-mediated decay (NMD).

[Rectal endometriosis: entity difficult to diagnose.]. / Endometriosis rectal:entidad de difícil diagnóstico.

Endometriosis is a gynecologic disorder characterized by the presence of endometrial glands and stroma outside the endometrial cavity and the uterine musculature. Although the ectopic endometriotic implants are most commonly found in the pelvis, the GI tract is the most common site of extrapelvic endometriosis The diagnosis of rectosigmoid is difficult to make on colonoscopy because of the subepithelial location of the endometriotic implants. We present a case report ofa 38-years-old woman referred with a diagnosis of rectal cancer with large intestine symptoms.Rectal endometriosis should be considered in the differential diagnosis of extramucosal rectal masses in premenopausal women, particularly if the patient has gynecological complaints or a history of infertility.