Genetic associations between scrotal circumference and female reproductive traits in Nelore cattle

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

Noonan syndrome (NS) and Noonan-like syndromes (NLS) are autosomal dominant disorders caused by heterozygous mutations in genes of the RAS/MAPK pathway. The aim of the study was to construct specific growth charts for patients with NS and NLS. Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with mutations identified in PTPN11 (n?=?90), SOS1 (n?=?14), RAF1 (n?=?10), KRAS (n?=?8), BRAF (n?=?11), and SHOC2 (n?=?4) genes. Height, weight, and body mass index (BMI) references were constructed using the lambda, mu, sigma (LMS) method. Patients had birth weight and length within normal ranges for gestational age although a higher preterm frequency (16%) was observed. Mean final heights were 157.4?cm [-2.4 standard deviation score (SDS)] and 148.4?cm (-2.2?SDS) for adult males and females, respectively. BMI SDS was lower when compared to Brazilian standards (BMI SDS of -0.9 and -0.5 SDS for males and females, respectively). Patients harboring mutations in RAF1 and SHOC2 gene were shorter than other genotypes, whereas patients with SOS1 and BRAF mutations had more preserved postnatal growth. In addition, patients with RAF1 and BRAF had the highest BMI whereas patients with SHOC2 and KRAS mutations had the lowest BMI. The present study established the first height, weight, and BMI reference curves for NS and NLS patients, based only on patients with a proven molecular cause. These charts can be useful for the clinical follow-up of patients with NS and NLS. (c) 2012 Wiley Periodicals, Inc.

Estudio y diseño de un cabezal de recepción para GPS mediante APLAC

Presentación del Proyecto Fin de Carrera titulado "Estudio y Diseño de un Cabezal de Recepción para GPS mediante APLAC"

Timing per l'inserimento in lista dei pazienti affetti da fibrosi cistica che necessitano di trapianto polmonare: casistica di un centro regionale di riferimento

Timing of waiting list entrance for patients with cystic fibrosis in need of pulmonary transplant: the experience of a regional referral centre Objective: Evaluation of parameters that can predict a rapid decay of general conditions of patients affected by Cystic Fibrosis (CF) with no specific criteria to be candidate to pulmonary transplant. Material and methods: Fifteen patients with CF who died for complications and 8 who underwent lung transplantation in the 2000-2010 decade, were enrolled. Clinical data 2 years before the event (body max index, FEV1%, number of EV antibiotic treatments per year, colonization with Methicillin-resistant Staphylococcus aureus (MRSA), pseudomonas aeruginosa mucosus, burkholderia cepacia, pulmonary allergic aspergilosis) were compared among the 2 groups. Results: Mean FEV1% was significantly higher and mean number of antibiotic treatment was lower in deceased than in the transplanted patients (p<0.002 and p<0.001 respectively). Although in patients who died there were no including criteria to enter the transplant list 2 years before the exitus, suggestive findings such as low BMI (17.3), high incidence of hepatic pathology (33.3%), diabetes (50%), and infections with MRSA infection (25%), Pseudomonas aeruginosa (83.3%) and burkholderia cepacia (8.3%) were found with no statistical difference with transplanted patients, suggesting those patients were at risk of severe prognosis. In patients who died, females were double than males. Conclusion: While evaluating patients with CF, negative prognostic factors such as the ones investigated in this study, should be considered to select individuals with high mortality risk who need stricter therapeutical approach and follow up. Inclusion of those patients in the transplant waiting list should be taken into account.

ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir

An ADME (absorption, distribution, metabolism and excretion)-pharmacogenetics association study may identify functional variants relevant to the pharmacokinetics of lopinavir co-formulated with ritonavir (LPV/r), a first-line anti-HIV agent.

Identification of candidate genes and physiological pathways involved in gonad deformation in whitefish (Coregonus spp.) from Lake Thun, Switzerland

In 2000, fishermen reported the appearance of deformed reproductive organs in whitefish (Coregonus spp.) from Lake Thun, Switzerland. Despite intensive investigations, the causes of these abnormalities remain unknown. Using gene expression profiling, we sought to identify candidate genes and physiological processes possibly associated with the observed gonadal deformations, in order to gain insights into potential causes. Using in situ-synthesized oligonucleotide arrays, we compared the expression levels at 21,492 unique transcript probes in liver and head kidney tissue of male whitefish with deformed and normally developed gonads, respectively. The fish had been collected on spawning sites of two genetically distinct whitefish forms of Lake Thun. We contrasted the gene expression profiles of 56 individuals, i.e., 14 individuals of each phenotype and of each population. Gene-by-gene analysis revealed weak expression differences between normal and deformed fish, and only one gene, ictacalcin, was found to be up-regulated in head kidney tissue of deformed fish from both whitefish forms, However, this difference could not be confirmed with quantitative real-time qPCR. Enrichment analysis on the level of physiological processes revealed (i) the involvement of immune response genes in both tissues, particularly those linked to complement activation in the liver, (ii) proteolysis in the liver and (iii) GTPase activity and Ras protein signal transduction in the head kidney. In comparison with current literature, this gene expression pattern signals a chronic autoimmune disease in the testes. Based on the recent observations that gonad deformations are induced through feeding of zooplankton from Lake Thun we hypothesize that a xenobiotic accumulated in whitefish via the plankton triggering autoimmunity as the likely cause of gonad deformations. We propose several experimental strategies to verify or reject this hypothesis.

The influence of the surgeon's and the hospital's caseload on survival and local recurrence after colorectal cancer surgery

BACKGROUND: Past studies have identified surgeon- and institution- related characteristics as prognostic factors in colorectal cancer surgery. The present work assesses the influence of the surgeon's and the hospital's caseload on long-term results of colorectal cancer surgery. METHODS: The data on 2706 patients from 2, randomized, colorectal cancer trials (Swiss Group for Clinical Cancer Research [SAKK] 40/81, SAKK 40/87) investigating adjuvant intraportal and systemic chemotherapy and 1 concurrent registration study (SAKK 40/88) were reviewed. A first analysis included 1809 eligible, nonmetastatic patients from all 3 studies. A subsequent subgroup analysis included 915 eligible patients from both randomized trials. Overall survival (OS), disease-free survival (DFS), and local recurrence (LR) were analyzed in multivariate models taking into account the possible effect of clustering. The main potential covariates were surgeon's annual caseload (>5 operations/year vs < or =5 operations/year), hospital's annual caseload (>26 operations/year vs < or =26 operations/year), tumor site, T stage, and nodal status. RESULTS: Primary analysis of all 3 studies combined found a high surgeon's caseload to be positively associated with OS (P = .025) and marginally with DFS (P = .058). Separate analysis for each trial, however, showed that a high surgeon's caseload was beneficial for outcome in both randomized trials but not in the registration study. A subgroup analysis of 915 patients with 376 rectal and 539 colonic primaries from both randomized trials, therefore, was performed. Neither age, gender, year of operation, adjuvant chemotherapy (intraportal vs systemic vs operation alone), hospital academic status (university vs non-university), training status of the surgeon (certified surgeon vs surgeon-in-training), nor inclusion in 1 of the 2 randomized trials (SAKK 40/81 vs SAKK 40/87) was a significant predictor of outcome. However, both high surgeon's and high hospital's annual caseloads were independent, beneficial prognostic factors for OS (P = .0003, P = .044) and DFS (P = .0008, P = .020), and marginally significant factors for LR (P = .057, P = .055). CONCLUSIONS: High surgeon's and hospital's annual caseloads are strong, independent prognostic factors for extending overall and disease-free survival and reducing the rate of local recurrence in 2 randomized colorectal cancer trials.

Minor inheritance inhibits the calibration of the 10Be production rate from the AD 1717 Val Ferret rock avalanche, European Alps

To calibrate the in situ 10Be production rate, we collected surface samples from nine large granitic boulders within the deposits of a rock avalanche that occurred in AD 1717 in the upper Ferret Valley, Mont Blanc Massif, Italy. The 10Be concentrations were extremely low and successfully measured within 10% analytical uncertainty or less. The concentrations vary from 4829 ± 448 to 5917 ± 476 at g−1. Using the historical age exposure time, we calculated the local and sea level-high latitude (i.e. ≥60°) cosmogenic 10Be spallogenic production rates. Depending on the scaling schemes, these vary between 4.60 ± 0.38 and 5.26 ± 0.43 at g−1 a−1. Although they correlate well with global values, our production rates are clearly higher than those from more recent calibration sites. We conclude that our 10Be production rate is a mean and an upper bound for production rates in the Massif region over the past 300 years. This rate is probably influenced by inheritance and will yield inaccurate (e.g. too young) exposure ages when applied to surface-exposure studies in the area. Other independently dated rock-avalanche deposits in the region that are approximately 103 years old could be considered as possible calibration sites.

Comportamiento de procedencias de Pinus nigra bajo riego en Dique Yaucha : Mendoza, Argentina

La provincia de Mendoza, que se ubica en el Centro-Oeste de la República Argentina, posee una extensión de 150.830 km2. Prácticamente todas las actividades agropecuarias y forestales están concentradas en el 3% de su territorio que es posible irrigar. Al Oeste, en el límite con la República de Chile, está la cadena montañosa que forma parte de la región fitogeográfica del Desierto Andino que se extiende por más de 500 km, con un ancho promedio de 100 km. El objetivo de este trabajo fue evaluar la supervivencia y el comportamiento de distintas procedencias de Pinus nigra en zonas del piedemonte mendocino. Para ello se instaló una parcela experimental en el Dique Yaucha, ubicado en el Departamento de San Carlos a 34°00’ S y 69°07’ O, a una altura de 1.213 msnm. Las procedencias del ensayo fueron: Pinus nigra var. clusiana (Francia), Pinus nigra var. austríaca (Livo - Italia), Pinus nigra var. austríaca (Lasa - Italia), Pinus nigra var. knin (ex Yugoslavia) y Pinus nigra var. pyramidalis (Turquía). Se llevaron plantas de aproximadamente 0,30 m de altura que se instalaron a una distancia de plantación definitiva de 3 x 3 m y se regaron superficialmente por surcos. Se tomaron periódicamente datos dasométricos de diámetro altura de pecho (DAP) de todas las plantas, altura total de los árboles promedio de cada procedencia, registrándose además las fallas producidas y el estado sanitario. Los resultados obtenidos a la edad de 17 años son: Pinus nigra var. clusiana (Francia): diámetro promedio 12,1 cm, altura 5,2 m y 10% de fallas; Pinus nigra var. austríaca (Livo -Italia): diámetro promedio 13 cm, altura 4,6 m y 25% de fallas; Pinus nigra var. austríaca (Lasa - Italia): diámetro promedio 13,9 cm, altura 5,60 m y 0% de fallas; Pinus nigra var. knin (ex Yugoslavia): diámetro promedio 14,1cm, altura 6,2 m y 15% de fallas y Pinus nigra var. pyramidalis (Turquía): diámetro promedio 11,6 cm, altura 5,8 m y 40% de fallas. Las plantas presentan una gran variabilidad de formas desde porte abierto a muy fastigiado. Todas las procedencias presentan un buen estado sanitario, no registrándose hasta la fecha plagas o enfermedades que hayan afectado el desarrollo del ensayo.