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  • 1
    Publication Date: 2013-12-28
    Description: Nature Genetics 46, 56 (2014). doi:10.1038/ng.2843 Authors: Helen E Speedy, Maria Chiara Di Bernardo, Georgina P Sava, Martin J S Dyer, Amy Holroyd, Yufei Wang, Nicola J Sunter, Larry Mansouri, Gunnar Juliusson, Karin E Smedby, Göran Roos, Sandrine Jayne, Aneela Majid, Claire Dearden, Andrew G Hall, Tryfonia Mainou-Fowler, Graham H Jackson, Geoffrey Summerfield, Robert J Harris, Andrew R Pettitt, David J Allsup, James R Bailey, Guy Pratt, Chris Pepper, Chris Fegan, Richard Rosenquist, Daniel Catovsky, James M Allan & Richard S Houlston Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P = 1.74 × 10−9), 4q26 (rs6858698, P = 3.07 × 10−9), 6q25.2 (IPCEF1, rs2236256, P = 1.50 × 10−10) and 7q31.33 (POT1, rs17246404, P = 3.40 × 10−8). Additionally, we identified a promising association at 5p15.33 (CLPTM1L, rs31490, P = 1.72 × 10−7) and validated recently reported putative associations at 5p15.33 (TERT, rs10069690, P = 1.12 × 10−10) and 8q22.3 (rs2511714, P = 2.90 × 10−9). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL.
    Print ISSN: 1061-4036
    Electronic ISSN: 1546-1718
    Topics: Biology , Medicine
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  • 2
    Publication Date: 2024-02-07
    Description: The Earth climate system is out of energy balance, and heat has accumulated continuously over the past decades, warming the ocean, the land, the cryosphere, and the atmosphere. According to the Sixth Assessment Report by Working Group I of the Intergovernmental Panel on Climate Change, this planetary warming over multiple decades is human-driven and results in unprecedented and committed changes to the Earth system, with adverse impacts for ecosystems and human systems. The Earth heat inventory provides a measure of the Earth energy imbalance (EEI) and allows for quantifying how much heat has accumulated in the Earth system, as well as where the heat is stored. Here we show that the Earth system has continued to accumulate heat, with 381±61 ZJ accumulated from 1971 to 2020. This is equivalent to a heating rate (i.e., the EEI) of 0.48±0.1 W m−2. The majority, about 89 %, of this heat is stored in the ocean, followed by about 6 % on land, 1 % in the atmosphere, and about 4 % available for melting the cryosphere. Over the most recent period (2006–2020), the EEI amounts to 0.76±0.2 W m−2. The Earth energy imbalance is the most fundamental global climate indicator that the scientific community and the public can use as the measure of how well the world is doing in the task of bringing anthropogenic climate change under control. Moreover, this indicator is highly complementary to other established ones like global mean surface temperature as it represents a robust measure of the rate of climate change and its future commitment. We call for an implementation of the Earth energy imbalance into the Paris Agreement's Global Stocktake based on best available science. The Earth heat inventory in this study, updated from von Schuckmann et al. (2020), is underpinned by worldwide multidisciplinary collaboration and demonstrates the critical importance of concerted international efforts for climate change monitoring and community-based recommendations and we also call for urgently needed actions for enabling continuity, archiving, rescuing, and calibrating efforts to assure improved and long-term monitoring capacity of the global climate observing system. The data for the Earth heat inventory are publicly available, and more details are provided in Table 4.
    Type: Article , PeerReviewed
    Format: text
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  • 3
    Publication Date: 2012-12-27
    Description: Overlapping absorption edges will occur when an element is present in multiple oxidation states within a material. DetOx is a program for partitioning overlapping X-ray absorption spectra into contributions from individual atomic species and computing the dependence of the anomalous scattering factors on X-ray energy. It is demonstrated how these results can be used in combination with X-ray diffraction data to determine the oxidation state of ions at specific sites in a mixed-valance material, GaCl 2 .
    Print ISSN: 0909-0495
    Electronic ISSN: 1600-5775
    Topics: Geosciences , Physics
    Published by Wiley-Blackwell on behalf of International Union of Crystallography (IUCr).
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  • 4
    Publication Date: 2014-05-15
    Description: Palmoplantar Keratoderma along with Neuromuscular and Metabolic Phenotypes in Slurp1-Deficient Mice Journal of Investigative Dermatology 134, 1589 (June 2014). doi:10.1038/jid.2014.19 Authors: Oludotun Adeyo, Bernard B Allan, Richard H Barnes, Chris N Goulbourne, Angelica Tatar, Yiping Tu, Lorraine C Young, Michael M Weinstein, Peter Tontonoz, Loren G Fong, Anne P Beigneux & Stephen G Young
    Print ISSN: 0022-202X
    Electronic ISSN: 1523-1747
    Topics: Medicine
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  • 5
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Preface In sub-Saharan Africa, malaria accounts for 〉1 million deaths annually in children aged 〈5 years. To combat this rapidly progressing disease, antimalarial drugs are often administered presumptively to children with fever, resulting in massive overtreatment, ...
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-086X
    Keywords: Filter, complications ; Pulmonary embolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose To determine the influence of filter leg-interlocking on filtering efficiency of titanium Greenfield inferior vena cava filters in anin vitro model. Methods Titanium Greenfield filters (TGF) were placed in an inferior vena cava (IVC) flow phantom with no interlocking legs, or with one or two pairs of legs interlocked. Clot emboli of varying sizes were introduced into the stream of flow, and the frequency of successful captures by the deformed filters was recorded. Results Interlocking filter legs diminished the filtering efficiency of the TGF by up to 80% with the flow phantom in a horizontal position; no such compromise existed when the phantom was in a vertical position. Conclusion When leg interlocking is verified radiographically, the filtering efficiency of the TGF is reduced, and placement of a second IVC filter may be indicated.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    CardioVascular & interventional radiology 17 (1994), S. 110-112 
    ISSN: 1432-086X
    Keywords: IVC filter, complications ; Retrieval ; Inferior vena cava ; Interventional procedure ; Foreign body
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Vena caval filters are considered permanent indwelling devices. Occasionally, malposition of a filter prompts a desire for its removal. We report a method of percutaneous retrieval of a titanium Greenfield filter by snare.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-198X
    Keywords: Key words: Vesicoureteric reflux ; Prenatal ultrasound ; Newborn infant ; Screening ; Radionuclide imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. There has been a low yield of primary vesicoureteric reflux (VUR) from screening the fetal urinary tract during obstetric sonography. We sought to determine whether changing the cut-off level of fetal renal pelvic diameter from 10 mm to 4 mm would improve the yield of VUR. In a prospective community-based study, a fetal renal pelvic diameter of 4 mm or more on a transverse view of the fetal renal hilum at obstetric sonography after 16 weeks’ gestation was found in 426 fetuses from 9,800 consecutive pregnancies. After birth, renal sonography was performed on 386 of the 426 babies. Of the 386 babies, 264 (187 boys) had a voiding cystourethrogram (VCUG) at a mean age of 9 weeks. Primary VUR was detected in 33 (16 boys) of the 264 infants (13%), and secondary VUR in another 5 (2%). Only 5 of the 33 (15%) babies with primary VUR would have been detected if a cut-off point of 10 mm for fetal renal pelvic diameter had been used. The prevalence of reflux was similar at each cut-off level of antenatal renal pelvic diameter from 4 to 10 mm. Neither calyceal nor ureteric dilatation was helpful in differentiating those with from those without VUR. The postnatal renal sonogram did not distinguish whether reflux was present or not. More infants with primary VUR, particularly girls, were found by changing the cut-off point for fetal renal pelvic diameter from 10 mm to 4 mm, and performing a VCUG on all such infants even if the postnatal renal sonogram was normal. Of the 33 infants with primary VUR, 9 (27%, 5 boys) had an abnormal dimercaptosuccinic acid scan. Our findings support the screening of the obstetric population for a fetal renal pelvic diameter of 4 mm or more, and then investigating the infants for VUR after birth.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1573-2568
    Keywords: GALLSTONES ; GALLBLADDER VOLUME ; DIABETES
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Diabetics are known to have an increasedprevalence of gallstones. The aim of this study was toinvestigate whether diabetics have increased gallbladdervolumes that would predispose to stasis, nucleation of cholesterol crystals, and gallstoneformation. The gallbladder volume of 271 diabeticsubjects and 277 controls was determined by ultrasoundusing the ellipse formula. Gallbladder volume was alsodetermined by the sum of the cylinders method in 143 caseswith a strong correlation (r = 0.89) between the twomethods. Using analysis of variance, gallbladder volumewas influenced by both diabetic type (NIDDM 33.68 cm3, IDDM = 26.84 cm3,controls 29.05 cm3; P = 0.018) and thepresence of gallstones (gallstones 32.04 cm3,no gallstones 27.58 cm3; P = 0.018). Thevariation in gallbladder volume between NIDDM, IDDM, andcontrol subjects was influenced by the presence ofgallstones (P = 0.024, interaction term from ANOVA).Significant differences (P 〈 0.001) were only foundbetween NIDDM vs IDDM and NIDDM vs control in thenongallstone group (NIDDM 34.33 cm3, IDDM = 25.08cm3, control = 25.17 cm3). Maleshad significantly larger gallbladder volumes thanfemales: 31.98 cm3 vs 27.74 cm3 (P= 0.023). After the inclusion of BMI, HDL cholesterol, triglyceride, and age in a statistical modelwith gender and diabetic type in those withoutgallstones, significant differences were still foundbetween NIDDM and IDDM (P = 0.013) and NIDDM andcontrols (P = 0.005), demonstrating that NIDDM is anindependent predictor for increased gallbladdervolume.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1573-2568
    Keywords: gallstones ; prevalence risk factors ; diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A study was undertaken to compare the prevalence of gallstone disease (gallstones observed on ultrasound or history of cholecystectomy) in 308 diabetics and 318 controls. There was a higher prevalence of gallstone disease (GSD) in diabetics (32.7%) compared to controls (20.8%;P〈0.001 chi-squared test). However, when gender was taken into account, the difference was only significant in females (diabetics 41.8% versus controls 23.1%;P〈0.001). Analysis by type of diabetes revealed that subjects with non-insulin-dependent diabetes mellitus (NIDDM) had a higher prevalence of GSD than controls for both genders: males—controls 18.1%, NIDDM 33.3% (P〈0.05), IDDM 15.6% ns; females—controls 23.1%, NIDDM 48.6% (P〈0.001), IDDM 36.3% (P〈0.05). On univariate analysis the following risk factors were associated with gallstones (P〈0.1): increased age, body mass index (BMI), triglycerides, LDL cholesterol, decreased HDL cholesterol, alcohol intake, family history of GSD, and female parity 〉3. Using stepwise multiple logistic regression, the following variables were identified as independently predictive of gallstones for each gender/diabetic combination: Males—NIDDM (N=54), increased age, and decreased HDL; IDDM (N=90), age and family history; Females—NIDDM (N=74), increased age, diabetes, increased BMI, and decreased alcohol; IDDM (N=91), increased BMI, age, decreased alcohol and family history. The proportion of subjects who underwent cholecystectomy was higher in females (46.7%) compared to males (21.7%;P〈0.01) but there were no differences between diabetics and controls in either sex. In conclusion, there was a higher prevalence of GSD in diabetics compared to controls. However, GSD is multifactorial and only in NIDDM females was diabetes an independent risk factor. The proportion of diabetics and controls with GSD who underwent cholecystectomy was equivalent.
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