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1.
Shoulder Elbow ; 16(1 Suppl): 3-16, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38425741

RESUMEN

This systematic review aims to provide normative values for internal and external glenohumeral rotation strength in rugby players. From the inception to March 2021, the search strategy was (strength OR torque) AND shoulder AND rugby using PubMed, Scopus, Web of Science, and SPORTDiscus databases, with no language restrictions. This systematic review includes 15 articles involving 573 rugby players and presenting internal or external glenohumeral rotation strength values. Two main methods are used to assess glenohumeral rotation strength in rugby players: isokinetic and isometric methods; in the isometric method, the upper arm is abducted at either 0° or 90°. Owing to differences in isokinetic procedures and a lack of studies assessing isometric strength when the upper arm is in a neutral position, normative internal or external glenohumeral rotation strength values are only provided for isometric contractions when the upper arm is abducted at 90° based on 311 shoulders of 163 male rugby union players, with 2.04 ± 0.15 N.kg-1 and 2.11 ± 0.13 N.kg-1 for internal and external glenohumeral rotation strength, respectively. These findings may help strength and conditioning coaches and physical therapists, provide objective evidence when deciding whether or not rugby union players should return to sport.

2.
SAR QSAR Environ Res ; 32(2): 151-174, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33525942

RESUMEN

One step towards reduced animal testing is the use of in silico screening methods to predict toxicity of chemicals, which requires high-quality data to develop models that are reliable and clearly interpretable. We compiled a large data set of fish early life stage no observed effect concentration endpoints (FELS NOEC) based on published data sources and internal studies, containing data for 338 molecules. Furthermore, we developed a new quantitative structure-activity-activity relationship (QSAAR) model to inform estimation of this endpoint using a combination of dimensionality reduction, regularization, and domain knowledge. In particular, we made use of a sparse partial least squares algorithm (sPLS) to select relevant variables from a huge number of molecular descriptors ranging from topological to quantum chemical properties. The final QSAAR model is of low complexity, consisting of 2 latent variables based on 8 molecular descriptors and experimental Daphnia magna acute data (EC50, 48 h). We provide a mechanistic interpretation of each model parameter. The model performs well, with a coefficient of determination r 2 of 0.723 on the training set (cross-validated q 2 = 0.686) and comparable predictivity on a test data set of chemically related molecules with experimental Daphnia magna data (r 2 test = 0.687, RMSE = 0.793 log units).


Asunto(s)
Daphnia/efectos de los fármacos , Peces/metabolismo , Larva/efectos de los fármacos , Relación Estructura-Actividad Cuantitativa , Pruebas de Toxicidad/veterinaria , Animales , Análisis de los Mínimos Cuadrados , Modelos Biológicos , Pruebas de Toxicidad/instrumentación
3.
Anat Histol Embryol ; 47(3): 268-270, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29508436

RESUMEN

Mastitis is a common economically relevant problem in dairy farming. As the major entry for pathogens is the papillary duct, one of the first defence mechanisms is the teat sphincter. This sphincter shows a rhythmic contractility of yet unknown origin. Searching for possible modulatory pacemaker cells, teat sphincters of eight cows were stained immunohistochemically with antibodies against CD117 and vimentin and evaluated microscopically for the presence of telocytes. CD117- and vimentin-positive telocytes with telopodes were found in close contact with smooth muscle cells. Our findings present a first evidence of telocytes in the teat of bovines.


Asunto(s)
Bovinos , Glándulas Mamarias Animales/citología , Proteínas Proto-Oncogénicas c-kit/metabolismo , Telocitos/citología , Telocitos/fisiología , Vimentina/metabolismo , Animales , Femenino
4.
Int J Obes (Lond) ; 42(3): 353-362, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29151592

RESUMEN

BACKGROUND/OBJECTIVES: Inter-individual variability in weight loss during obesity treatment is complex and poorly understood. Here we use whole body and tissue approaches to investigate fuel oxidation characteristics in skeletal muscle fibers, cells and distinct circulating protein biomarkers before and after a high fat meal (HFM) challenge in those who lost the most (obese diet-sensitive; ODS) vs the least (obese diet-resistant; ODR) amount of weight in a highly controlled weight management program. SUBJECTS/METHODS: In 20 weight stable-matched ODS and ODR women who previously completed a standardized clinical weight loss program, we analyzed whole-body energetics and metabolic parameters in vastus lateralis biopsies and plasma samples that were obtained in the fasting state and 6 h after a defined HFM, equivalent to 35% of total daily energy requirements. RESULTS: At baseline (fasting) and post-HFM, muscle fatty acid oxidation and maximal oxidative phosphorylation were significantly greater in ODS vs ODR, as was reactive oxygen species emission. Plasma proteomics of 1130 proteins pre and 1, 2, 5 and 6 h after the HFM demonstrated distinct group and interaction differences. Group differences identified S-formyl glutathione hydratase, heat shock 70 kDA protein 1A/B (HSP72), and eukaryotic translation initiation factor 5 (eIF5) to be higher in ODS vs ODR. Group-time differences included aryl hydrocarbon interacting protein (AIP), peptidylpropyl isomerase D (PPID) and tyrosine protein-kinase Fgr, which increased in ODR vs ODS over time. HSP72 levels correlated with muscle oxidation and citrate synthase activity. These proteins circulate in exosomes; exosomes isolated from ODS plasma increased resting, leak and maximal respiration rates in C2C12 myotubes by 58%, 21% and 51%, respectively, vs those isolated from ODR plasma. CONCLUSIONS: Findings demonstrate distinct muscle metabolism and plasma proteomics in fasting and post-HFM states corresponding in diet-sensitive vs diet-resistant obese women.


Asunto(s)
Proteínas Sanguíneas/metabolismo , Fibras Musculares Esqueléticas/metabolismo , Obesidad , Proteoma/metabolismo , Biomarcadores/sangre , Proteínas Sanguíneas/análisis , Estudios de Casos y Controles , Dieta , Exosomas/metabolismo , Femenino , Humanos , Persona de Mediana Edad , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatología , Obesidad/sangre , Obesidad/dietoterapia , Obesidad/epidemiología , Obesidad/metabolismo , Proteoma/análisis , Insuficiencia del Tratamiento
5.
Br J Sports Med ; 52(10): 674-677, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-27457796

RESUMEN

BACKGROUND AND AIMS: Catastrophic cervical spine injuries are rare in rugby union but require close monitoring. The aim of this study was to analyse the incidence of severe cervical spine injuries and determine the impact of a national prevention programme and new scrum rules implemented by the French Rugby Union. METHODS: A prospective study was performed between 2006 and 2013 including all players affiliated to the French Rugby Union. All cervical spine injuries resulting in death, tetraplegia or a permanent neurological deficit were included. Prevention programmes were implemented from 2007 to 2013 and a change in scrum rules in 2010. To measure the impact of rule changes, results between 2006-2010 and 2010-2013 were compared using a Poisson regression. RESULTS: Altogether, 31 injuries were observed and the mean annual incidence was 1.6 per 100 000 players. There were significantly more injuries in senior players compared to junior players (3.5 vs 0.6 per 100 000 players; CI 95% (2.1 to 4.9) vs (0.1 to 1.0)). Incidence decreased from 1.8 in 2006 to 1.0 per 100 000 players in 2013 (p<0.0001). After 2010, there were significantly fewer injuries during scrums (p=0.02). In contrast, there were significantly more injuries in backs during 2010-2013 compared to 2006-2010 (p=0.003). CONCLUSIONS: The incidence of catastrophic cervical spine injuries has declined in French Rugby Union. The implementation of specific prevention programmes and scrum law changes has notably resulted in a decrease in scrum injuries in forwards. This prospective study should be continued to monitor the future progression of injuries and adapt prevention programmes accordingly.


Asunto(s)
Traumatismos en Atletas/prevención & control , Fútbol Americano/lesiones , Fútbol Americano/normas , Traumatismos Vertebrales/prevención & control , Adolescente , Adulto , Vértebras Cervicales/lesiones , Francia , Humanos , Incidencia , Masculino , Estudios Prospectivos , Traumatismos Vertebrales/etiología , Adulto Joven
6.
Sci Total Environ ; 609: 1464-1474, 2017 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-28800689

RESUMEN

Despite much work in recent years, vehicle emissions remain a significant contributor in many areas where air quality standards are under threat. Policy-makers are actively exploring options for next generation vehicle emission control and local fleet management policies, and new monitoring technologies to aid these activities. Therefore, we report here on findings from two separate but complementary blind evaluation studies of one new-to-market real-world monitoring option, HEAT LLC's Emission Detection And Reporting system or EDAR, an above-road open path instrument that uses Differential Absorption LIDAR to provide a highly sensitive and selective measure of passing vehicle emissions. The first study, by Colorado Department of Public Health and Environment and Eastern Research Group, was a simulated exhaust gas test exercise used to investigate the instrumental accuracy of the EDAR. Here, CO, NO, CH4 and C3H8 measurements were found to exhibit high linearity, low bias, and low drift over a wide range of concentrations and vehicle speeds. Instrument accuracy was high (R2 0.996 for CO, 0.998 for NO; 0.983 for CH4; and 0.976 for C3H8) and detection limits were 50 to 100ppm for CO, 10 to 30ppm for NO, 15 to 35ppmC for CH4, and, depending on vehicle speed, 100 to 400ppmC3 for C3H8. The second study, by the Universities of Birmingham and Leeds and King's College London, used the comparison of EDAR, on-board Portable Emissions Measurement System (PEMS) and car chaser (SNIFFER) system measurements collected under real-world conditions to investigate in situ EDAR performance. Given the analytical challenges associated with aligning these very different measurements, the observed agreements (e.g. EDAR versus PEMS R2 0.92 for CO/CO2; 0.97 for NO/CO2; ca. 0.82 for NO2/CO2; and, 0.94 for PM/CO2) were all highly encouraging and indicate that EDAR also provides a representative measure of vehicle emissions under real-world conditions.

7.
Br J Surg ; 104(8): 1078-1086, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28561259

RESUMEN

BACKGROUND: Colorectal cancer screening can decrease morbidity and mortality. However, there are widespread differences in the implementation of programmes and choice of strategy. The primary objective of this study was to estimate lifelong costs and health outcomes of two of the currently most preferred methods of screening for colorectal cancer: colonoscopy and sensitive faecal immunochemical test (FIT). METHODS: A cost-effectiveness analysis of colorectal cancer screening in a Swedish population was performed using a decision analysis model, based on the design of the Screening of Swedish Colons (SCREESCO) study, and data from the published literature and registries. Lifelong cost and effects of colonoscopy once, colonoscopy every 10 years, FIT twice, FIT biennially and no screening were estimated using simulations. RESULTS: For 1000 individuals invited to screening, it was estimated that screening once with colonoscopy yielded 49 more quality-adjusted life-years (QALYs) and a cost saving of €64 800 compared with no screening. Similarly, screening twice with FIT gave 26 more QALYs and a cost saving of €17 600. When the colonoscopic screening was repeated every tenth year, 7 additional QALYs were gained at a cost of €189 400 compared with a single colonoscopy. The additional gain with biennial FIT screening was 25 QALYs at a cost of €154 300 compared with two FITs. CONCLUSION: All screening strategies were cost-effective compared with no screening. Repeated and single screening strategies with colonoscopy were more cost-effective than FIT when lifelong effects and costs were considered. However, other factors such as patient acceptability of the test and availability of human resources also have to be taken into account.


Asunto(s)
Neoplasias Colorrectales/prevención & control , Detección Precoz del Cáncer/economía , Anciano , Anciano de 80 o más Años , Colonoscopía/economía , Neoplasias Colorrectales/economía , Análisis Costo-Beneficio , Detección Precoz del Cáncer/métodos , Femenino , Humanos , Inmunoensayo/economía , Inmunoensayo/métodos , Masculino , Persona de Mediana Edad , Sangre Oculta , Años de Vida Ajustados por Calidad de Vida , Suecia
8.
Rev Sci Instrum ; 87(11): 11E337, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27910339

RESUMEN

We present synthetic transmission spectra generated with PrismSPECT utilizing both the ATBASE model and the Los Alamos opacity library (OPLIB) to evaluate whether an alternative choice in atomic data will impact modeling of experimental data from radiation transport experiments using Sc-doped aerogel foams (ScSi6O12 at 75 mg/cm3 density). We have determined that in the 50-200 eV Te range there is a significant difference in the 1s-3p spectra, especially below 100 eV, and for Te = 200 eV above 5000 eV in photon energy. Examining synthetic spectra generated using OPLIB with 300 resolving power reveals spectral sensitivity to Te changes of ∼3 eV.

9.
Rev Sci Instrum ; 85(11): 11D601, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25430177

RESUMEN

We present a temporally and a spatially resolved spectrometer for titanium x-ray absorption spectroscopy along 2 axial symmetric lines-of-sight. Each line-of-sight of the instrument uses an elliptical crystal to acquire both the 2p and 3p Ti absorption lines on a single, time gated channel of the instrument. The 2 axial symmetric lines-of-sight allow the 2p and 3p absorption features to be measured through the same point in space using both channels of the instrument. The spatially dependent material temperature can be inferred by observing the 2p and the 3p Ti absorption features. The data are recorded on a two strip framing camera with each strip collecting data from a single line-of-sight. The design is compatible for use at both the OMEGA laser and the National Ignition Facility. The spectrometer is intended to measure the material temperature behind a Marshak wave in a radiatively driven SiO2 foam with a Ti foam tracer. In this configuration, a broad band CsI backlighter will be used for a source and the Ti absorption spectrum measured.

10.
Int Angiol ; 33(5): 474-9, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25294290

RESUMEN

AIM: Screening 65-year-old men for abdominal aortic aneurysm (AAA) reduces mortality from ruptured AAA (rAAA). Lower than expected prevalence of AAA is now found, why screening at a higher age and rescreening has been discussed. Our aim was to determine if screening at 70 years of age, instead of 65, increases clinical effectiveness. METHODS: Seven thousand nine hundred fifty-one and 5623 previously un-screened 65- and 70-year old men were invited to ultrasound screening. RESULTS: The attendance rate was 85.7% and 84.0%, P<0.01, for the 65- and 70-year old men respectively. The screening-detected prevalence did not differ, being 1.9% and 2.3%, P=0.15, respectively, probably due to the fact that 23.5% and 37.4% of all known AAA among 65- and 70-year-old men, were detected by other means prior to screening, P<0.01. However, the total known prevalence differed between the age-groups, being at least 2.1% and 3.0% respectively, P<0.001. CONCLUSION: The screening-detected AAA-prevalence did not differ between 65- and 70-year-old men, due to the greater number of AAA known prior to screening among 70- compared to 65-year-old men. Screening men at 70 instead of 65 years of age would not result in detection of substantially more previously unknown AAA, thus not preventing rAAA and consequently not more saved life-years. Further, data also indicates that it is questionable if re-screening the 65-year-old male population after five years would generate any important clinical effect.


Asunto(s)
Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Tamizaje Masivo/métodos , Factores de Edad , Anciano , Aneurisma de la Aorta Abdominal/epidemiología , Humanos , Masculino , Selección de Paciente , Valor Predictivo de las Pruebas , Prevalencia , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Suecia/epidemiología , Ultrasonografía
11.
Eur J Vasc Endovasc Surg ; 46(4): 453-9, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23978561

RESUMEN

BACKGROUND: Screening 65-year-old men for abdominal aortic aneurysms (AAA) is a cost-effective method to reduce the mortality from ruptured AAA. However, contemporary results show a lower than expected prevalence of AAA, thus questioning the benefit of screening. Since the prevalence increases with age, a possible way to enhance the benefit of screening might be to screen older men. Our aim was to determine the contemporary screening-detected prevalence among 70-year-old men. METHODS: A total of 5,623 unscreened 70-year-old men were invited to ultrasound screening. Uni- and multivariable analyses were used to assess the risk factors for AAA. RESULTS: The attendance rate was 84.0%. The prevalence of previously unknown AAAs was 2.3%. When adding the 64 men with an already known AAA to the screening-detected ones, the total prevalence in the population was at least 3.0%, and the previously discovered AAAs constituted 37.4% of the total prevalence. "Ex smoker" and "Current smoker" were the most important risk factors. CONCLUSIONS: When screening 70-year-old men for AAA, the prevalence was less than half that expected, despite a high attendance rate. Smoking was the strongest risk factor. Almost 40% of the men with AAAs were already known from other means than screening.


Asunto(s)
Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Aneurisma de la Aorta Abdominal/epidemiología , Tamizaje Masivo/métodos , Factores de Edad , Anciano , Distribución de Chi-Cuadrado , Humanos , Modelos Lineales , Modelos Logísticos , Masculino , Análisis Multivariante , Oportunidad Relativa , Valor Predictivo de las Pruebas , Prevalencia , Factores de Riesgo , Factores Sexuales , Fumar/efectos adversos , Fumar/epidemiología , Suecia/epidemiología , Ultrasonografía
12.
Int Angiol ; 32(5): 492-500, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23903308

RESUMEN

AIM: Is there a difference in the population-based survival rate for patients with ruptured abdominal aortic aneurysms (rAAA), handled by a "one-stop" or a "two-stop" referral pattern? METHODS: Ten regions in Sweden were identified where clear-cut "one-stop" or "two-stop" referral-patterns prevailed. From the Swedvasc Registry we identified 849 patients operated on for rAAA, 1987 to 2004, living in any of these ten regions, and related the number of survivors to the whole population served by each hospital. RESULTS: The population-based survival rate was 14% lower for patients following a "two-stop" compared to a "one-stop" referral pattern (P=0.084). For the group 65-74 years-of-age the difference was significant (P=0.021), but no corresponding effect was seen regarding operative mortality rate or sex. CONCLUSION: Compared to a "one-stop" referral pattern for rAAA, a "two-stop" referral pattern results in a lower population-based survival rate for patients 65-74 years old, but the consequences would be small even if a "one-stop" referral pattern could be generally accomplished.


Asunto(s)
Aneurisma de la Aorta Abdominal/mortalidad , Aneurisma de la Aorta Abdominal/cirugía , Rotura de la Aorta/mortalidad , Rotura de la Aorta/cirugía , Pautas de la Práctica en Medicina , Derivación y Consulta , Anciano , Aneurisma de la Aorta Abdominal/diagnóstico , Rotura de la Aorta/diagnóstico , Áreas de Influencia de Salud , Femenino , Accesibilidad a los Servicios de Salud , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Sistema de Registros , Análisis de Supervivencia , Tasa de Supervivencia , Suecia/epidemiología , Factores de Tiempo , Resultado del Tratamiento
13.
Pathologe ; 34(2): 94-104, 2013 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-23423505

RESUMEN

Esophageal malformations are rare and can occur sporadically or as a component of various syndromes. The variations and classifications are manifold. With the available modern operation techniques most malformations can be resolved with good results. However, esophageal malformations are often combined with further malformations which limit the prognosis. The separation of the trachea and esophagus after gastrulation is not yet completely researched. The results so far indicate that the localized expression of various homeodomain transcription factors is essential for normal development of the trachea and esophagus.


Asunto(s)
Esófago/anomalías , Esófago/patología , Anastomosis Quirúrgica , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/patología , Enfermedades en Gemelos/cirugía , Divertículo Esofágico/diagnóstico , Divertículo Esofágico/genética , Divertículo Esofágico/patología , Divertículo Esofágico/cirugía , Atresia Esofágica/diagnóstico , Atresia Esofágica/genética , Atresia Esofágica/patología , Atresia Esofágica/cirugía , Esófago/embriología , Esófago/cirugía , Femenino , Sitios Genéticos/genética , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Pronóstico , Síndrome , Tráquea/anomalías , Tráquea/embriología , Tráquea/patología , Tráquea/cirugía , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/genética , Fístula Traqueoesofágica/patología , Fístula Traqueoesofágica/cirugía
14.
Behav Genet ; 43(2): 132-40, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23307483

RESUMEN

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), all having a role during brain development. We further looked for 5'UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227-DXS8091) to 4 Mb also disclosing a higher LOD score.


Asunto(s)
Cromosomas Humanos X/genética , Dislexia/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Predisposición Genética a la Enfermedad/genética , Niño , Femenino , Francia , Genes Ligados a X , Sitios Genéticos , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Escala de Lod , Masculino , Linaje , Polimorfismo de Nucleótido Simple
15.
Phys Rev Lett ; 108(25): 255006, 2012 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-23004611

RESUMEN

The first experimental demonstration of Rayleigh-Taylor-induced magnetic fields due to the Biermann battery effect has been made. Experiments with laser-irradiated plastic foils were performed to investigate these illusive fields using a monoenergetic proton radiography system. Path-integrated B field strength measurements were inferred from radiographs and found to increase from 10 to 100 T µm during the linear growth phase for 120 µm perturbations. Proton fluence modulations were corrected for Coulomb scattering using measured areal density profiles from x-ray radiographs.

16.
Open Biol ; 2(5): 120061, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22724066

RESUMEN

Accurate identification of sparse heterozygous single-nucleotide variants (SNVs) is a critical challenge for identifying the causative mutations in mouse genetic screens, human genetic diseases and cancer. When seeking to identify causal DNA variants that occur at such low rates, they are overwhelmed by false-positive calls that arise from a range of technical and biological sources. We describe a strategy using whole-exome capture, massively parallel DNA sequencing and computational analysis, which identifies with a low false-positive rate the majority of heterozygous and homozygous SNVs arising de novo with a frequency of one nucleotide substitution per megabase in progeny of N-ethyl-N-nitrosourea (ENU)-mutated C57BL/6j mice. We found that by applying a strategy of filtering raw SNV calls against known and platform-specific variants we could call true SNVs with a false-positive rate of 19.4 per cent and an estimated false-negative rate of 21.3 per cent. These error rates are small enough to enable calling a causative mutation from both homozygous and heterozygous candidate mutation lists with little or no further experimental validation. The efficacy of this approach is demonstrated by identifying the causative mutation in the Ptprc gene in a lymphocyte-deficient strain and in 11 other strains with immune disorders or obesity, without the need for meiotic mapping. Exome sequencing of first-generation mutant mice revealed hundreds of unphenotyped protein-changing mutations, 52 per cent of which are predicted to be deleterious, which now become available for breeding and experimental analysis. We show that exome sequencing data alone are sufficient to identify induced mutations. This approach transforms genetic screens in mice, establishes a general strategy for analysing rare DNA variants and opens up a large new source for experimental models of human disease.


Asunto(s)
Análisis Mutacional de ADN , Modelos Animales de Enfermedad , Exoma , Ratones Endogámicos C57BL/genética , Ratones Mutantes/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Animales , Cruzamientos Genéticos , Etilnitrosourea , Femenino , Genes Recesivos , Heterocigoto , Homocigoto , Endogamia , Antígenos Comunes de Leucocito/genética , Masculino , Ratones , Mutagénesis
17.
Pathologe ; 33(3): 254-61, 2012 May.
Artículo en Alemán | MEDLINE | ID: mdl-22383052

RESUMEN

BACKGROUND: Focal nodular hyperplasia (FNH) is a benign hepatic tumor of unknown origin. It is only observed rarely in children (approximately 1-2% of all pediatric liver tumors). CASE REPORT: A 12-year-old boy who suffered from infectious mononucleosis with liver involvement and hepatomegaly underwent a sonographic scan of the liver at an external hospital 3 months after the infection disappeared which revealed a tumor of the left hepatic lobule. Subsequent further examination (abdominal CT and MRT scans) confirmed the diagnosis of a highly vascularized mass about 10 cm in diameter, suspicious for FNH. Due to the high vascularization no biopsy was performed. A preoperative angiographic coiling and complete surgical resection was carried out because of the size and morphologic uncertainty. The diagnosis of FNH was confirmed by histological examination. The annual sonographic examination at follow-up has been uneventful for a 4-year period. CONCLUSIONS: Due to the rarity the diagnosis of FNH in children can be difficult leading to differential diagnostic problems. Due to the risk of bleeding in larger size tumors a biopsy is a point of controversy. Complete resection and histopathological examination of FNHs in childhood is a mandatory therapeutic option, which may be indicated in large tumors or, as in the present case tumors of uncertain biological behaviour.


Asunto(s)
Hiperplasia Nodular Focal/patología , Niño , Diagnóstico Diferencial , Diagnóstico por Imagen , Hiperplasia Nodular Focal/cirugía , Hepatectomía , Hepatomegalia/patología , Humanos , Mononucleosis Infecciosa/patología , Hígado/patología , Masculino
18.
Orthop Traumatol Surg Res ; 97(4): 443-6, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21514264

RESUMEN

Meniscal ossicles are an unusual finding and a rare cause for knee pain. They are often initially diagnosed as a loose body, chondrocalcinosis or meniscal calcification within the knee joint. Few cases have been reported in the literature. We present a case of a meniscal ossicle with an associated femoral cartilage lesion in a healthy 26-year-old male professional soccer player who presented with swelling and pain. The purpose of this article is to discuss the origins, radiological features, clinical symptoms and prognosis of meniscal ossicles.


Asunto(s)
Artroscopía/métodos , Cuerpos Libres Articulares/cirugía , Meniscos Tibiales/patología , Intensificación de Imagen Radiográfica , Adulto , Artroscopía/rehabilitación , Traumatismos en Atletas/diagnóstico por imagen , Traumatismos en Atletas/cirugía , Medios de Contraste , Edema/diagnóstico , Edema/etiología , Estudios de Seguimiento , Humanos , Cuerpos Libres Articulares/diagnóstico , Traumatismos de la Rodilla/diagnóstico por imagen , Traumatismos de la Rodilla/cirugía , Imagen por Resonancia Magnética/métodos , Masculino , Meniscos Tibiales/diagnóstico por imagen , Meniscos Tibiales/cirugía , Dimensión del Dolor , Cuidados Posoperatorios/métodos , Recuperación de la Función , Fútbol/lesiones , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento
19.
Orthop Traumatol Surg Res ; 96(3): 256-62, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20488144

RESUMEN

INTRODUCTION: Reconstruction Surgery of the posterior cruciate ligament (PCL) has not yet been fully standardized, and associated rehabilitation protocols have not been clearly defined. The aim of this study is to report the results of a consecutive series of patients who underwent the same surgical technique for isolated PCL reconstruction and were submitted to the same specific rehabilitation protocol. A non-aggressive rehabilitation protocol which protects the graft from excess mechanical stress produces satisfying and reproducible clinical and laxity results in the knee. MATERIALS AND METHODS: Our series included 17 patients who underwent single bundle arthroscopic reconstruction of the PCL with an autologous quadriceps tendon graft and who followed the same non-aggressive rehabilitation protocol. All patients were followed up for an average of 30 months (range 12-60 months). The preoperative evaluation and the last follow-up included objective and subjective IKDC scores as well as the Tegner & Lysholm knee scales. The side to side laxity was measured radiologically with the Telos stress testing device. A statistical analysis was performed to compare preoperative and postoperative results. RESULTS: Preoperatively, no patients were classified as A or B on the IKDC objective score. At last follow-up visit, 88.2% of patients were classified as A or B. Average side to side anteroposterior laxity was 11.9 mm (range 8-18) in the preoperative evaluation and 3.8mm (range 1-7) in the final follow-up (p=0.01) The average subjective IKDC score was 37.7 before surgery and 74.7 at last follow-up (p< 0.01). The Tegner & Lysholm scores were significantly improved by surgery. DISCUSSION: Although the results are still less successful than ACL reconstruction, successful PCL reconstruction results were obtained with a standardized single bundle reconstruction technique and an adapted specific postoperative rehabilitation protocol. A non-aggressive rehabilitation protocol can limit postoperative mechanical stress on the graft. TYPE OF STUDY: Retrospective Level IV.


Asunto(s)
Lesiones del Ligamento Cruzado Anterior , Ligamento Cruzado Anterior/cirugía , Traumatismos de la Rodilla/rehabilitación , Traumatismos de la Rodilla/cirugía , Procedimientos de Cirugía Plástica/métodos , Adolescente , Adulto , Ligamento Cruzado Anterior/fisiopatología , Artroscopía , Femenino , Estudios de Seguimiento , Humanos , Traumatismos de la Rodilla/etiología , Traumatismos de la Rodilla/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Transferencia Tendinosa/métodos , Resultado del Tratamiento
20.
Mol Psychiatry ; 15(1): 38-52, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18607376

RESUMEN

Autism is a severe developmental disorder, whose pathogenetic underpinnings are still largely unknown. Temporocortical gray matter from six matched patient-control pairs was used to perform post-mortem biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier (AGC), which participates in the aspartate/malate reduced nicotinamide adenine dinucleotide shuttle and is physiologically activated by calcium (Ca(2+)). AGC transport rates were significantly higher in tissue homogenates from all six patients, including those with no history of seizures and with normal electroencephalograms prior to death. This increase was consistently blunted by the Ca(2+) chelator ethylene glycol tetraacetic acid; neocortical Ca(2+) levels were significantly higher in all six patients; no difference in AGC transport rates was found in isolated mitochondria from patients and controls following removal of the Ca(2+)-containing postmitochondrial supernatant. Expression of AGC1, the predominant AGC isoform in brain, and cytochrome c oxidase activity were both increased in autistic patients, indicating an activation of mitochondrial metabolism. Furthermore, oxidized mitochondrial proteins were markedly increased in four of the six patients. Variants of the AGC1-encoding SLC25A12 gene were neither correlated with AGC activation nor associated with autism-spectrum disorders in 309 simplex and 17 multiplex families, whereas some unaffected siblings may carry a protective gene variant. Therefore, excessive Ca(2+) levels are responsible for boosting AGC activity, mitochondrial metabolism and, to a more variable degree, oxidative stress in autistic brains. AGC and altered Ca(2+) homeostasis play a key interactive role in the cascade of signaling events leading to autism: their modulation could provide new preventive and therapeutic strategies.


Asunto(s)
Agrecanos/metabolismo , Calcio/metabolismo , Trastornos Generalizados del Desarrollo Infantil/genética , Trastornos Generalizados del Desarrollo Infantil/metabolismo , Homeostasis/fisiología , Adolescente , Agrecanos/genética , Ácido Aspártico/metabolismo , Encéfalo/efectos de los fármacos , Encéfalo/metabolismo , Estudios de Casos y Controles , Quelantes/farmacología , Niño , Trastornos Generalizados del Desarrollo Infantil/patología , Preescolar , Ácido Egtácico/farmacología , Complejo IV de Transporte de Electrones/metabolismo , Salud de la Familia , Femenino , Regulación de la Expresión Génica/fisiología , Genotipo , Ácido Glutámico/metabolismo , Homeostasis/efectos de los fármacos , Humanos , Desequilibrio de Ligamiento , Masculino , Mitocondrias/metabolismo , Neocórtex/metabolismo , Estrés Oxidativo/efectos de los fármacos , Estrés Oxidativo/fisiología , Serotonina/sangre , Adulto Joven
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