Fluxes of Atmospheric Greenhouse-Gases in Maryland (FLAGG-MD): Emissions of Carbon Dioxide in the Baltimore, MD-Washington, D.C. area.

To study emissions of CO2 in the Baltimore, MD-Washington, D.C. (Balt-Wash) area, an aircraft campaign was conducted in February 2015, as part of the FLAGG-MD (Fluxes of Atmospheric Greenhouse-Gases in Maryland) project. During the campaign, elevated mole fractions of CO2 were observed downwind of the urban center and local power plants. Upwind flight data and HYSPLIT (Hybrid Single Particle Lagrangian Integrated Trajectory) model analyses help account for the impact of emissions outside the Balt-Wash area. The accuracy, precision, and sensitivity of CO2 emissions estimates based on the mass balance approach were assessed for both power plants and cities. Our estimates of CO2 emissions from two local power plants agree well with their CEMS (Continuous Emissions Monitoring Systems) records. For the 16 power plant plumes captured by the aircraft, the mean percentage difference of CO2 emissions was -0.3 %. For the Balt-Wash area as a whole, the 1σ CO2 emission rate uncertainty for any individual aircraft-based mass balance approach experiment was ±38 %. Treating the mass balance experiments, which were repeated seven times within nine days, as individual quantifications of the Balt-Wash CO2 emissions, the estimation uncertainty was ±16 % (standard error of the mean at 95% CL). Our aircraft-based estimate was compared to various bottom-up fossil fuel CO2 (FFCO2) emission inventories. Based on the FLAGG-MD aircraft observations, we estimate 1.9±0.3 MtC of FFCO2 from the Balt-Wash area during the month of February 2015. The mean estimate of FFCO2 from the four bottom-up models was 2.2±0.3 MtC.

The impact of hip fracture on health-related quality of life and activities of daily living: the SPARE-HIP prospective cohort study.

PURPOSE: The medical morbidity and mortality associated with neck of femur fractures is well-documented, whereas there is limited data for patient-reported outcomes. The aim of this study was to characterize the impact of neck of femur fractures on activities of daily living and patient-reported health-related quality of life. METHODS: Design and participants: Multicentric prospective cohort study. Consecutive sample patients with fragility hip fracture over 50 years old admitted in 48 hospitals in Spain. OUTCOMES: daily living activity function (Barthel Index) and health-related quality of life (EQ-5D) pre-fracture, admission to hospital and at 1- and 4-month follow-up post-fracture. STATISTICS: Barthel and EQ-5D over time are described as mean (SD) and median (interquartile range). RESULTS: A total of 997 patients were recruited at baseline with 4-month outcomes available for, and 856 patients (89.5%). Barthel Index fell from 78.77 (23.75) at baseline to 43.62 (19.86) on admission to hospital with the fracture. Scores partially recovered to 54.89 (25.40) and 64.09 (21.35) at 1- and 4-month post-fracture, respectively. EQ-5D fell from a median of 0.75 (0.47-0.91) to - 0.01 (- 0.03 to 0.51) on admission. Partial recovery was observed again to (0.51 (- 0.06 to 0.67)) and (0.60 (0.10 to 0.80)) at 1- and 4-month post-fracture, respectively. CONCLUSIONS: Hip fracture results in a large decline in the ability to perform activities of daily living and patient-reported health-related quality of life with only partial recovery amongst survivors 4-month post-fracture.

Constrained acetabular liners in hip revision surgery. A low-cost solution for senile patients.

The objective of this study was to analyze the results of a cemented polyethylene model that captures the hip prosthetic head. In a retrospective study we reviewed 36 cemented constrained acetabular liners implanted in patients older than 75 years (mean 83, SD : 4.4), of which 30 patients were aged 80-90 years and 26 were women. The average period of follow-up of our patients was 25.4 months (12-39 months, SD : 7.3). In 26 patients this model was implanted due to recurrent dislocation or instability, in 8 other cases this model was implanted during revision surgery for periprosthetic fractures, aseptic loosening of the -acetabular component, wear of the polyethylene or replacement of the implant because of infection. There was a single case of recurrent dislocation (2.8%). Cemented acetabular constrained liners are a good option in revision surgery in senile patients in which the femoral stem is firmly fixed to the bone.

Studying radon exhalation rates variability from phosphogypsum piles in the SW of Spain.

Nearly 1.0 × 10(8) tonnes of phosphogypsum were accumulated during last 50 years on a 1,200 ha disposal site near Huelva town (SW of Spain). Previous measurements of exhalation rates offered very variable values, in such a way that a worst case scenario could not be established. Here, new experimental data coupled to numerical simulations show that increasing the moisture contents or the temperature reduces the exhalation rate whilst increasing the radon potential or porosity has the contrary effect. Once the relative effects are compared, it can be drawn that the most relevant parameters controlling the exhalation rate are radon potential (product of emanation factor by (226)Ra concentration) and moisture saturation of PG. From wastes management point of view, it can be concluded that piling up the waste increasing the height instead of the surface allows the reduction of the exhalation rate. Furthermore, a proposed cover here is expected to allow exhalation rates reductions up to 95%. We established that the worst case scenario corresponds to a situation of extremely dry winter. Under these conditions, the radon exhalation rate (0.508 Bqm(-2)s(-1)) would be below though close to the upper limit established by U.S.E.P.A. for inactive phopsphogypsum piles (0.722 Bqm(-2)s(-1)).

Occupational exposures in two industrial plants devoted to the production of ammonium phosphate fertilisers.

In order to fill a gap in the open literature, occupational exposures and activity concentrations have been assessed in two NORM industrial plants, located in the south-west of Spain, devoted to the production of mono-ammonium phosphate (MAP) and di-ammonium phosphate (DAP) fertilisers. The annual effective doses received by the workers from these plants are clearly below 1 mSv yr(-1) and the contribution due to external radiation is similar to that due to inhalation. The contribution to the maximum effective doses due to inhalation of particulate matter has been estimated to be about 0.12 mSv yr(-1), while the (222)Rn concentrations inside the plants are of no concern. Consequently, no additional actions or radiological protection measures need to be taken to decrease the natural radiation received by the workers in these facilities.

Distribución de la osteólisis periprotésica en la cadera. Estudio con resonancia magnética / Distribution of periprosthetic osteolysis in the hip: A study using magnetic resonance

Introducción. Con resonancia magnética es posible evaluar las lesiones óseas y de partes blandas secundarias a la producción de partículas de desgaste. Nuestro objetivo ha sido estudiar con este método la distribución de las lesiones en pacientes con un mismo tipo de componente acetabular no cementado. Material y método. Se incluyeron 40 artroplastias de cadera no cementadas con un cotilo poroso revestido de hidroxiapatita y multiperforado para anclaje opcional de tornillos con una evolución media de 13 años. Mediante estudios de imagen con resonancia magnética utilizando secuencias especiales de pulsos para disminuir los artefactos metálicos, se estudió la presencia, extensión y continuidad de la lesión granulomatosa y de las zonas de osteólisis. Resultados. Una cadera no fue susceptible de análisis. Se detectó lesión granulomatosa aislada en tres caderas y asociada a osteólisis en 32, sólo en pelvis en 10, sólo en el fémur en tres y en ambos segmentos en 19. En la pelvis la afectación fue, por zonas: ilion supra-acetabular en 15 caderas, rama isquio-pubiana en 24, isquion en 12 e isquion retro-acetabular en 21. Solo dos caderas y dos tornillos presentaban lesiones centrales aisladas del resto del granuloma. Comentarios y conclusiones. Con resonancia magnética ha sido posible estudiar las lesiones óseas y de partes blandas secundarias a desgaste. La distribución de las zonas de osteólisis ha seguido un patrón periférico propio de cotilos no perforados, destacando la existencia de escasas lesiones aisladas sobre los orificios o alrededor de los tornillos implantados coexistiendo con frecuencia afectación femoral proximal (AU)

Introduction. Magnetic resonance imaging (MRI) is useful in assessing bone and soft tissue lesions due to the production of wear particles. Our objective was to study the distribution of lesions in patients with one type of cementless acetabular component with this technique. Material and methods. We included 40 total hip arthroplasty with press-fitted hydroxyapatite porous-coated cup and multiple optional screw holes performed over a mean of 13years. We studied the presence, extent and continuity of the granulomatous lesion and osteolysis with MRI using special pulse sequences to reduce metal artefacts. Results. One hip was not amenable to analysis. An isolated granulomatous lesion was found in 3 hips, associated osteolysis in 32, in the pelvis only in 10, in the femur only in 3 and in both segments in 19. By zones, the pelvis involvement was supra-acetabular ilium in 15, ischium-pubic branch in 24, ischium in 12 and retro-acetabular ischium in 21. Only two hips and two screws central lesions were isolated from the granulomatous mass. Comments and conclusions. MRI osteolysis and soft tissue lesions secondary to wear to be studied. The distribution of osteolytic areas show a peripheral pattern typical of non-perforated acetabular cups frequently coexisting with proximal femoral involvement, highlighting few isolated lesions in the holes or around the implanted screws (AU)

Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: application of a rapid capillary electrophoresis method.

Male infertility is correlated with several genetic and non-genetic conditions. Microdeletions of Y chromosome are one of the most frequent genetic defects associated with male infertility. Evaluating this in infertile patients is important to assess an etiological diagnosis and possible prognosis of infertility, as well as to address clinical decision during treatment of infertility by intracytoplasmatic sperm injection, where the probability of success depends on the type and the number of deleted regions (azoospermia factor regions). To improve genetic counseling, it is useful to characterize Yq regions by a rapid and accurate method. In the current study, we evaluated the diagnostic efficiency and the time required of an in-house automated capillary electrophoresis method for Y microdeletions screening and applied it to estimate the prevalence of Y microdeletions in 100 infertile males affected by azoospermia or severe oligozoospermia (sperm count <5x10(6)/ml) and in 100 fertile male controls. In south Italian infertile men, the overall frequency of Y microdeletions was 9% (12.7% in azoospermic and 4.5% in severe oligozoospermic men). In conclusion, we think that the abovementioned procedure is suitable for the routine characterization of Y microdeletions.

A comparison between active and passive techniques for measurements of radon emanation factors.

Some radon related parameters have been determined through two different techniques (passive and active) in soil and phosphogypsum samples. Emanation factors determined through these techniques show a good agreement for soil samples while for phosphogympsum samples appear large discrepancies. In this paper, these discrepancies are analyzed and explained if non-controlled radon leakages in the passive technique are taken into account.

A short-time method to measure the radon potential of porous materials.

The radiological risk associated with the use of solid materials has been traditionally established according to their radon exhalation rates, the accumulation chamber technique being the most widely used for the determination of this quantity. However, this coupled methodology has two important drawbacks: the calculated exhalation rate value depends strongly on the experimental setup used; hence widely varying values can be calculated for the same material. Furthermore, this technique usually requires long monitoring times (between 1 and 4 weeks). In this paper, we present a fast and reproducible method for the determination of radon potential (as an alternative to the exhalation rate) based on the application of the accumulation chamber technique. Radon potential is proportional to the emanation coefficient, and can be calculated within measuring times of less than 24h. The theoretical basis is developed and the experimental setup is discussed in detail in this paper. The procedures for the determination of different experimental parameters (leakage constant, slope correction) are shown as essential steps for the later determination of the radon potential. In addition, the robustness of the developed methodology is demonstrated, and the reproducibility tests carried out with the general system performance are shown. Finally, the radon potential for different materials is determined, allowing its prompt categorization according to its associated radiological risk.

Concordance, disease progression, and heritability of coeliac disease in Italian twins.

BACKGROUND AND AIMS: We adopted the twin method to disentangle the genetic and environmental components of susceptibility to coeliac disease (CD). We estimated disease concordance rate by zygosity and HLA genotypes, discordance times, progression rates to disease, and heritability. METHODS: We crosslinked the Italian Twin Registry with the membership lists of the Italian Coeliac Disease Association and recruited 23 monozygotic (MZ) and 50 dizygotic (DZ) twin pairs with at least one affected member. Zygosity was assigned by DNA fingerprinting, and HLA-DQ and DR alleles were genotyped. Disease status was ascertained by antiendomysial, anti-human tissue transglutaminase antibodies, and bowel biopsy. RESULTS: Concordance was significantly higher in MZ (83.3% probandwise, 71.4% pairwise) than in DZ (16.7% probandwise, 9.1% pairwise) pairs. Concordance was not affected by sex or HLA genotype of the co-twin and being MZ was significantly associated with the occurrence of CD (Cox adjusted hazard ratio 14.3 (95% confidence interval 4.0-50.3)). In 90% of concordant pairs the discordance time was

HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease.

Coeliac disease is an enteropathy due to an intolerance to gluten. The association between HLA-DQ genes and CD is well established. The majority of patients carry the HLA-DQ heterodimer encoded by DQA1*05/DQB1*02, either in cis or in trans. The remaining patients carry either part of the DQ heterodimer or DQA1*03-DQB1*0302. The aim of the study was to estimate the risks associated with different DQ genotypes in European populations. HLA information was available for 470 trio families from four countries: France (117), Italy (128), and Norway and Sweden (225). Five DQA1-DQB1 haplotypes were considered and control haplotype frequencies were estimated from the set of parental haplotypes not transmitted to the affected child. The possible genotypes were grouped into five genotype groups, based on the hierarchy of risk reported in the literature. A north-south gradient in the genotype group frequencies is observed in probands: homogeneity is strongly rejected between all country pairs. For each country, the relative risks associated with each genotype group were computed taking into account the control haplotype frequencies. Homogeneity of relative risks between countries was tested pairwise by maximum likelihood ratio statistics. The hypothesis of homogeneity of relative risks is rejected (P is approximately 10(-6)) for all country pairs. In conclusion, the gradient in the genotype group frequencies in probands is not only due to differences in haplotype frequencies but also due to differences in genotype relative risks in the studied populations; the relative risks associated with each DQ genotype group are different between northern and southern European countries; neither are they ordered in the same way.

Candidate gene region 2q33 in European families with coeliac disease.

Chromosome region 2q33 harbours a cluster of genes, CTLA-4, CD28, ICOS and closely located PD-1, all related to immune activation and considered as promising candidate genes for susceptibility to coeliac disease (CD). We present here the results of a genetic linkage and association analysis of nine markers located in this gene region in a large combined European material of 796 families with CD from Finland, Sweden, Norway, UK, France and Italy. The joint analysis supports earlier findings that this susceptibility locus, assigned as CELIAC3, merits further studies. Nominally significant linkage to CD was found in 314 families including affected sib pairs. Each of the five populations showed weak associations to several marker alleles, but the analysis revealed, however, no conclusive evidence for a primary functional gene or gene variant present in the total set of families. The results suggest that the CD risk due to 2q33 gene region is complex and may involve more than one susceptibility allele, which possibly differ from other autoimmune diseases.

Saturation of the 5q31-q33 candidate region for coeliac disease.

The first genome wide screening performed on Italian affected sib-pair families (Greco et al. 1998) gave evidence for linkage with coeliac disease in the 5q region. This finding was replicated in a second independent dataset (Greco et al. 2001). Overall, pooling both samples, the highest MLS value (2.92) was found for the most centromeric marker tested, D5S640. In the present study, the 5q31-q33 region was saturated with 12 new markers around D5S640, in order to verify whether there would be a shift of the MLS position. This study allowed us to support our previous finding of linkage for the region 5q31-q33, with the most significant MLS value at D5S2014, very close to the marker D5S640. No evidence for interaction between this risk factor and the one in the HLA region was found. Furthermore, many different groups have independently obtained analogous results for this region, confirming the presence of a susceptibility locus in the region 5q31-q33. This region contains several interesting candidate genes for coeliac disease.

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease.

Although HLA-DQ genes are the major celiac disease (CD) susceptibility genes, results from Finnish families suggest that not all DQ2-encoding haplotypes confer equal susceptibility to CD, implying the effect of other gene(s) in the HLA region. The aim of the present work was to extend and confirm the aforementioned results in a southern European population ( Italian) and to better localize the additional risk factor/s. The association of nine loci spanning the HLA region from DR to HFE, 4.5-Mb telomeric of HLA-A, was tested. The analysis was performed by comparing marker frequencies in DR3-DQ2 haplotypes transmitted and non-transmitted to the affected offspring in 156 Italian CD families selected for having at least one DR3-positive parent. The same analysis was performed independently in 101 Finnish CD families selected with the same criteria. Three alleles, MICA-A5.1, MICB-CA24 and MIB-350, all characteristic of the B8-DR3 extended haplotype, showed a significantly increased frequency in DR3 transmitted haplotypes in the Italian families. DR3 haplotypes carrying the combination of these alleles conferred an approximate fourfold increased CD risk. B8-DR3 transmitted haplotypes were significantly more conserved telomerically down to the MIC-Class I region. Similar results were seen in the Finnish families. The major conclusion that holds true in both populations is that, while DQ2 is an absolute requirement for the development of CD, the presence of an additional genetic factor within the MIC-Class I region confers an approximate 4-fold increased risk of the disease.

The IL12B gene does not confer susceptibility to coeliac disease.

Coeliac disease (CD) is a chronic inflammatory disorder where dietary gluten is not tolerated. In the lesion there are gluten reactive T cells predominantly secreting gamma-interferon. Both HLA and non-HLA genes contribute to CD susceptibility. Interleukin-12 (IL-12) regulates gamma-interferon production. The IL12B gene is located in a region (5q31.1-33.1) where there is evidence for linkage with CD. Allele 1 of an IL12B 3'UTR single-nucleotide polymorphism leads to increased expression of IL-12, and was recently implicated in susceptibility for type 1 diabetes (T1D). We found no evidence for association of allele 1 to CD by the transmission/disequilibrium test or case-control approach. No increased frequency was observed in patients belonging to families where the disease was linked to markers on chromosome 5q. Unlike T1D, allele 1 does not appear to confer susceptibility to CD.

The first large population based twin study of coeliac disease.

BACKGROUND AND AIMS: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study. METHODS: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. RESULTS: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1-134), independent of the DQ at risk genotype. CONCLUSION: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.

Efficiency of two different nine-loci short tandem repeat systems for DNA typing purposes.

BACKGROUND: Genotyping based on short tandem repeat (STR) regions is widely used in human identification and parentage testing, in gene mapping studies, and as an approach to studies on the etiopathogenesis and diagnosis of hereditary diseases. We wished to study a new analytical approach that uses capillary electrophoresis and multicolor fluorescence in place of slab gel electrophoresis. METHODS: We evaluated the efficiency for parentage and forensic purposes of the AmpFLSTR Profiler PlusTM typing kit that is used with the ABI Prism 310 Genetic Analyzer (System-2 STR), and that of a widely used panel of nine STRs analyzed with conventional slab-gel electrophoresis followed by radioactive detection (System-1 STR). System-2 STR, based on automated capillary electrophoresis and automated sizing of the alleles by Genotyper 2.0 software, was used to determine the allele frequency of the nine loci in 157 Caucasian subjects from southern Italy. On the basis of the data obtained, we submitted 40 trios to parentage testing. RESULTS: A higher median probability of paternity attribution and power of exclusion were obtained with System-2 STR vs System-1 STR: respectively, 99.99% and 99.95% (P <0.05) for attribution; and five and four excluding loci (P <0.05) for exclusion. The most informative and highly discriminating loci were D18S51, D21S11, and FGA. The combined probability of matching-by-chance for all nine STRs was 1.36 x 10(-12) for System-2 compared with 1.11 x 10(-7) obtained with the other system. The internal standard and allelic ladder of the System-2 STR facilitated accurate and precise genotyping; furthermore, System-2 STR and was faster than the conventional System-1 STR. CONCLUSIONS: The System-2 STR allows rapid testing with higher probabilities of attribution and a higher power of exclusion than with the comparison method with slab-gel electrophoresis.

Allele frequency distributions at several variable number of tandem repeat (VNTR) and short tandem repeat (STR) loci in a restricted Caucasian population from south Italy and their evaluation for paternity and forensic use.

Allele frequencies at six VNTR loci, 11 STR loci, and at the HLA-DQA1 locus were evaluated in a well-defined population from Campania (South Italy). The allele frequencies of three VNTR loci, 11 STR loci, and the HLA-DQA1 locus were compared with data obtained from a general Caucasian reference population in the USA. The aim of this study was to determine the power of each single locus and group of loci for forensic and paternity testing purposes. Significant differences between the allele frequencies of the two populations were found in two VNTR loci, four STR loci and in the HLA-DQA1 locus. The two populations were in Hardy-Weinberg equilibrium for the STR loci, but as expected, not for some VNTR loci. It was also found that: (i) the discriminatory power of two STR systems (nine and 11 loci, respectively) is similar in the two populations analysed; and (ii) that the allele frequencies for the STR systems of a large reference population can always be applied to subjects of a small subpopulation. In conclusion, for forensic purposes and for paternity testing, most of the 11 STR loci examined can be analysed using allele frequencies from a general Caucasian reference population without typing subpopulations, whereas the VNTR loci must be subtyped.

Rapid and efficient resolution of parentage by amplification of short tandem repeats.

Short tandem repeat (STR) loci are highly informative polymorphic loci that are gaining popularity for identity testing. We have conducted parentage testing by using nine STR loci on 50 paternity trios that had been previously tested using VNTR loci. These nine unlinked STR loci are amplified in three multiplex reactions and, when examined for genetic informativeness, provide a combined average power of exclusion of 99.73% (Caucasian data). The informative value of the selected loci is based on extensive STR typing of four racial/ethnic populations. In 37 of the 50 cases, paternity could not be excluded by any of the loci. In the remaining 13 cases, paternity was excluded by at least two of the STR markers. The probability of paternity calculated for the alleged father of each matching trio was > 99% in 36 of the 37 inclusion cases. All data agreed with the results reported using VNTR loci and conventional Southern technology. Our studies validate the use of DNA typing with STR loci for parentage testing, thus providing an accurate, highly sensitive, and rapid assay.

Internal deletions of amino acids 29-42 of human interleukin-6 (IL-6) differentially affect bioactivity and folding.

Internal deletions of the human interleukin-6 (IL-6) cDNA have been generated in the region encoding residues 29 to 42. Mutant proteins were produced by in vitro transcription-translation or in Escherichia coli and tested for their biological activity using the hybridoma growth factor (HGF) assay or a transcriptional activation assay on human hepatoma cells. The folding of the mutants was also checked by immunoprecipitation with conformation-specific monoclonal antibodies. The results show that only residues 29 to 34 are crucial for IL-6 activity and that the first two amino acids are probably involved in the definition of the IL-6 active site.