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  • 1
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    The Current State of the Residency Match
    Elsevier BV ; 2021
    In:  Orthopedic Clinics of North America Vol. 52, No. 1 ( 2021-01), p. 69-76
    Details
    In: Orthopedic Clinics of North America, Elsevier BV, Vol. 52, No. 1 ( 2021-01), p. 69-76
    Type of Medium: Online Resource
    ISSN: 0030-5898
    URL: Article
    DOI: 10.1016/j.ocl.2020.08.006
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
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  • 2
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    A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk
    American Diabetes Association ; 2018
    In:  Diabetes Care Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894
    Details
    In: Diabetes Care, American Diabetes Association, Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894
    Abstract: We tested the ability of a type 1 diabetes (T1D) genetic risk score (GRS) to predict progression of islet autoimmunity and T1D in at-risk individuals. RESEARCH DESIGN AND METHODS We studied the 1,244 TrialNet Pathway to Prevention study participants (T1D patients’ relatives without diabetes and with one or more positive autoantibodies) who were genotyped with Illumina ImmunoChip (median [range] age at initial autoantibody determination 11.1 years [1.2–51.8], 48% male, 80.5% non-Hispanic white, median follow-up 5.4 years). Of 291 participants with a single positive autoantibody at screening, 157 converted to multiple autoantibody positivity and 55 developed diabetes. Of 953 participants with multiple positive autoantibodies at screening, 419 developed diabetes. We calculated the T1D GRS from 30 T1D-associated single nucleotide polymorphisms. We used multivariable Cox regression models, time-dependent receiver operating characteristic curves, and area under the curve (AUC) measures to evaluate prognostic utility of T1D GRS, age, sex, Diabetes Prevention Trial–Type 1 (DPT-1) Risk Score, positive autoantibody number or type, HLA DR3/DR4-DQ8 status, and race/ethnicity. We used recursive partitioning analyses to identify cut points in continuous variables. RESULTS Higher T1D GRS significantly increased the rate of progression to T1D adjusting for DPT-1 Risk Score, age, number of positive autoantibodies, sex, and ethnicity (hazard ratio [HR] 1.29 for a 0.05 increase, 95% CI 1.06–1.6; P = 0.011). Progression to T1D was best predicted by a combined model with GRS, number of positive autoantibodies, DPT-1 Risk Score, and age (7-year time-integrated AUC = 0.79, 5-year AUC = 0.73). Higher GRS was significantly associated with increased progression rate from single to multiple positive autoantibodies after adjusting for age, autoantibody type, ethnicity, and sex (HR 2.27 for GRS & gt;0.295, 95% CI 1.47–3.51; P = 0.0002). CONCLUSIONS The T1D GRS independently predicts progression to T1D and improves prediction along T1D stages in autoantibody-positive relatives.
    Type of Medium: Online Resource
    ISSN: 0149-5992 , 1935-5548
    URL: Article
    DOI: 10.2337/dc18-0087
    Language: English
    Publisher: American Diabetes Association
    Publication Date: 2018
    detail.hit.zdb_id: 1490520-6
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  • 3
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    Identical and Nonidentical Twins: Risk and Factors Involved in Development of Islet Autoimmunity and Type 1 Diabetes
    American Diabetes Association ; 2019
    In:  Diabetes Care Vol. 42, No. 2 ( 2019-02-01), p. 192-199
    Details
    In: Diabetes Care, American Diabetes Association, Vol. 42, No. 2 ( 2019-02-01), p. 192-199
    Abstract: There are variable reports of risk of concordance for progression to islet autoantibodies and type 1 diabetes in identical twins after one twin is diagnosed. We examined development of positive autoantibodies and type 1 diabetes and the effects of genetic factors and common environment on autoantibody positivity in identical twins, nonidentical twins, and full siblings. RESEARCH DESIGN AND METHODS Subjects from the TrialNet Pathway to Prevention Study (N = 48,026) were screened from 2004 to 2015 for islet autoantibodies (GAD antibody [GADA], insulinoma-associated antigen 2 [IA-2A] , and autoantibodies against insulin [IAA]). Of these subjects, 17,226 (157 identical twins, 283 nonidentical twins, and 16,786 full siblings) were followed for autoantibody positivity or type 1 diabetes for a median of 2.1 years. RESULTS At screening, identical twins were more likely to have positive GADA, IA-2A, and IAA than nonidentical twins or full siblings (all P & lt; 0.0001). Younger age, male sex, and genetic factors were significant factors for expression of IA-2A, IAA, one or more positive autoantibodies, and two or more positive autoantibodies (all P ≤ 0.03). Initially autoantibody-positive identical twins had a 69% risk of diabetes by 3 years compared with 1.5% for initially autoantibody-negative identical twins. In nonidentical twins, type 1 diabetes risk by 3 years was 72% for initially multiple autoantibody–positive, 13% for single autoantibody–positive, and 0% for initially autoantibody-negative nonidentical twins. Full siblings had a 3-year type 1 diabetes risk of 47% for multiple autoantibody–positive, 12% for single autoantibody–positive, and 0.5% for initially autoantibody-negative subjects. CONCLUSIONS Risk of type 1 diabetes at 3 years is high for initially multiple and single autoantibody–positive identical twins and multiple autoantibody–positive nonidentical twins. Genetic predisposition, age, and male sex are significant risk factors for development of positive autoantibodies in twins.
    Type of Medium: Online Resource
    ISSN: 0149-5992 , 1935-5548
    URL: Article
    DOI: 10.2337/dc18-0288
    Language: English
    Publisher: American Diabetes Association
    Publication Date: 2019
    detail.hit.zdb_id: 1490520-6
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  • 4
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    The design, construction, and commissioning of the KATRIN experiment
    IOP Publishing ; 2021
    In:  Journal of Instrumentation Vol. 16, No. 08 ( 2021-08-01), p. T08015-
    Details
    In: Journal of Instrumentation, IOP Publishing, Vol. 16, No. 08 ( 2021-08-01), p. T08015-
    Abstract: The KArlsruhe TRItium Neutrino (KATRIN) experiment, which aims to make a direct and model-independent determination of the absolute neutrino mass scale, is a complex experiment with many components. More than 15 years ago, we published a technical design report (TDR) [1] to describe the hardware design and requirements to achieve our sensitivity goal of 0.2 eV at 90% C.L. on the neutrino mass. Since then there has been considerable progress, culminating in the publication of first neutrino mass results with the entire beamline operating [2] . In this paper, we document the current state of all completed beamline components (as of the first neutrino mass measurement campaign), demonstrate our ability to reliably and stably control them over long times, and present details on their respective commissioning campaigns.
    Type of Medium: Online Resource
    ISSN: 1748-0221
    URL: Article
    DOI: 10.1088/1748-0221/16/08/T08015
    Language: Unknown
    Publisher: IOP Publishing
    Publication Date: 2021
    detail.hit.zdb_id: 2235672-1
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  • 5
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    Distal Femoral Replacement for Acute Distal Femoral Fractures in Elderly Patients
    Ovid Technologies (Wolters Kluwer Health) ; 2016
    In:  Journal of Orthopaedic Trauma Vol. 30, No. 9 ( 2016-09), p. 503-509
    Details
    In: Journal of Orthopaedic Trauma, Ovid Technologies (Wolters Kluwer Health), Vol. 30, No. 9 ( 2016-09), p. 503-509
    Abstract: To evaluate outcomes and complications using cemented modular distal femoral replacement in elderly patients with distal femoral fractures. Design: Retrospective chart review, case series. Setting: A Level 1 and Level 2 trauma center, both tertiary referral hospitals. Patients/Participants: Eighteen patients older than 60 years (average age 77 years) who had cemented distal femoral replacement for distal femoral fractures (comminuted, intraarticular, osteoporotic, arthritic) between 2005 and 2013. Patients with previous knee surgery were excluded. Intervention: Cemented modular distal femoral replacement. Main Outcome Measures: Implant status, complications, Knee Society Score, Musculoskeletal Tumor Society score, and Western Ontario and McMaster Osteoarthritis Index. Results: All patients were extremely or very satisfied with their outcomes. For patients with functional outcome data, Knee Society Score averaged 85.7 with a functional score of 35, Musculoskeletal Tumor Society score averaged 19.2, and Western Ontario and McMaster Osteoarthritis Index score averaged 23.1 at an average follow-up of 2.3 years. Range of motion was 1–99 degrees. Implant-related complications occurred in 2 patients (11%); one required revision to total femoral replacement because of periprosthetic fracture and the other had a deep infection that required exchange of the components. No patient had aseptic loosening or patellar maltracking. There were no perioperative deaths or late amputations. Conclusions: Cemented modular distal femoral replacement is a viable treatment option in elderly patients that permits immediate full weight-bearing, with most patients returning to preoperative functional status. Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.
    Type of Medium: Online Resource
    ISSN: 0890-5339
    URL: Article
    DOI: 10.1097/BOT.0000000000000600
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2016
    detail.hit.zdb_id: 2041334-8
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  • 6
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    Report on the CCM key comparison of kilogram realizations CCM.M-K8.2019
    IOP Publishing ; 2020
    In:  Metrologia Vol. 57, No. 1A ( 2020-01-01), p. 07030-
    Details
    In: Metrologia, IOP Publishing, Vol. 57, No. 1A ( 2020-01-01), p. 07030-
    Abstract: This report describes the first CCM key comparison of realizations of the kilogram definition based on the fixed numerical value of the Planck constant, which came into force on 20 May 2019. The objectives were to determine the level of agreement between realizations of the kilogram using Kibble and joule balances and the X-ray crystal density (XRCD) method and to provide input for the calculation of the first "consensus value" of the kilogram. The consensus value will serve as the basis for an internationally coordinated dissemination of the kilogram which will continue until sufficient agreement between realization experiments has been achieved. The comparison was organized by the BIPM and had seven participants. The BIPM, KRISS, NIST and NRC operated Kibble balances, the NIM used a joule balance and the NMIJ and the PTB participated using 28 Si spheres, the masses of which were determined with the XRCD method. These realization methods were used to calibrate 1 kg mass standards under vacuum. The standards were sent (in air) to the BIPM where they were compared under vacuum with each other and with BIPM Pt-Ir working standards. The latter were calibrated (in air) traceable to the International Prototype of the Kilogram (IPK), the mass of which served as the definition of the kilogram until 20 May 2019. The results of the weighings at the BIPM together with the measurement results communicated by the participants allowed comparison of the values attributed to mass standards of 1 kg using the participating realization experiments. The level of agreement between mass determinations with the realization experiments and the BIPM as-maintained mass unit, traceable to the Planck constant through the mass of the International Prototype of the Kilogram can also be deduced. Main text To reach the main text of this paper, click on Final Report . Note that this text is that which appears in Appendix B of the BIPM key comparison database kcdb.bipm.org/ . The final report has been peer-reviewed and approved for publication by the CCM, according to the provisions of the CIPM Mutual Recognition Arrangement (CIPM MRA).
    Type of Medium: Online Resource
    ISSN: 0026-1394 , 1681-7575
    URL: Article
    DOI: 10.1088/0026-1394/57/1A/07030
    Language: Unknown
    Publisher: IOP Publishing
    Publication Date: 2020
    detail.hit.zdb_id: 1460891-1
    SSG: 11
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  • 7
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    CCM key comparison CCM.D-K4 'Hydrometer'
    IOP Publishing ; 2016
    In:  Metrologia Vol. 53, No. 1A ( 2016-01-01), p. 07003-
    Details
    In: Metrologia, IOP Publishing, Vol. 53, No. 1A ( 2016-01-01), p. 07003-
    Abstract: This report presents the comparison philosophy, methodology, analysis and the results of the designed CCM.D-K4 key comparison that covered the calibration of high resolution hydrometers for liquid and alcoholometers in the density range 600 kg/m 3 to 2000 kg/m 3 at the temperature of 20°C. The main purpose of this comparison was not only to evaluate the degree of equivalence in the calibration of high accuracy hydrometers between NMI participants, but also to link, were it is possible, the results of previous comparisons to Key Comparison Reference Values (KCRVs) of CCM.D-K4. Eleven NMI laboratories took part in the CCM.D-K4 divided in two groups (petals). With the CCM.D-K4 purpose, two similar sets consisting of three hydrometers for liquid density determinations and an alcoholometer were circulated to the NMI participants as a travelling standard in the time interval from January 2011 to April 2012. Twelve Key Comparison Reference Values (KCRVs) for each petal have been obtained at the density values related to the tested density marks of the transfer standards by the results of participants. The KCRVs and corresponding uncertainties were calculated by the weighted mean in the case of consistent results, otherwise the median was used. The degree of equivalence (DoE) with respect to the corresponding KCRV was determined for each participant and, in this particular comparison, the Weighted Least Squares (WLS) method was used to link the individual DoE of each participant by a continuous function. Significant drift of the transfer standards was not detected. This report also gives instructions on calculating pair-wise degrees of equivalence, with the addition of any information on correlations that may be necessary to estimate more accurately as well as the procedure for linking international comparisons to the CCM.D-K4. Finally an example of linkage to the CCM.D-K4 is given by dealing with the results of the bilateral comparison between INRiM and NMIA, which was added to this comparison so that all participants were engaged after the breakage of the 9340171 artefact. A particularly good agreement was found among the results provided by most of the participants, even if some systematic differences and either underestimated or overestimated uncertainties of the submitted results can be identified with respect to the KCRVs. In general the deviations of the laboratory results to the KCRVs are within of 1/3rd to 1/4th of a scale division and the uncertainty at 95% is usually within half a division. During the analysis of the submitted results, a systematic difference between the first and last immersed mark was also noted, possibly due to a temperature gradient along the stem and/or wetting of the stem around the tested mark, and therefore a corrected claimed uncertainty from each laboratory is expected. However this comparison may help the laboratories to solve some residual or marginal problems as well as to better understand the uncertainty components. The comparison fully supports the calibration measurement capabilities table in the BIPM key comparison database (KCDB). The results can be used to link regional comparisons to this CCM key comparison Main text To reach the main text of this paper, click on Final Report . Note that this text is that which appears in Appendix B of the BIPM key comparison database kcdb.bipm.org/ . The final report has been peer-reviewed and approved for publication by the CCM, according to the provisions of the CIPM Mutual Recognition Arrangement (CIPM MRA).
    Type of Medium: Online Resource
    ISSN: 0026-1394 , 1681-7575
    URL: Article
    DOI: 10.1088/0026-1394/53/1A/07003
    Language: Unknown
    Publisher: IOP Publishing
    Publication Date: 2016
    detail.hit.zdb_id: 1460891-1
    SSG: 11
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  • 8
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    Online Resource
    IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
    Stichting Nase ; 2015
    In:  Rhinology journal Vol. 53, No. 4 ( 2015-12-1), p. 359-364
    Details
    In: Rhinology journal, Stichting Nase, Vol. 53, No. 4 ( 2015-12-1), p. 359-364
    Type of Medium: Online Resource
    ISSN: 0300-0729
    URL: Journal
    URL: Article
    DOI: 10.4193/Rhin
    DOI: 10.4193/Rhin14.229
    Language: Unknown
    Publisher: Stichting Nase
    Publication Date: 2015
    detail.hit.zdb_id: 2120704-5
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  • 9
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    Rapid identification of Burkholderia mallei and Burkholderia pseudomalleiby intact cell Matrix-assisted Laser Desorption/Ionisation mass spectrometric typing
    Springer Science and Business Media LLC ; 2012
    In:  BMC Microbiology Vol. 12, No. 1 ( 2012-12)
    Details
    In: BMC Microbiology, Springer Science and Business Media LLC, Vol. 12, No. 1 ( 2012-12)
    Abstract: Burkholderia (B.) pseudomallei and B. mallei are genetically closely related species. B. pseudomallei causes melioidosis in humans and animals, whereas B. mallei is the causative agent of glanders in equines and rarely also in humans. Both agents have been classified by the CDC as priority category B biological agents. Rapid identification is crucial, because both agents are intrinsically resistant to many antibiotics. Matrix-assisted laser desorption/ionisation mass spectrometry (MALDI-TOF MS) has the potential of rapid and reliable identification of pathogens, but is limited by the availability of a database containing validated reference spectra. The aim of this study was to evaluate the use of MALDI-TOF MS for the rapid and reliable identification and differentiation of B. pseudomallei and B. mallei and to build up a reliable reference database for both organisms. Results A collection of ten B. pseudomallei and seventeen B. mallei strains was used to generate a library of reference spectra. Samples of both species could be identified by MALDI-TOF MS, if a dedicated subset of the reference spectra library was used. In comparison with samples representing B. mallei , higher genetic diversity among B. pseudomallei was reflected in the higher average Eucledian distances between the mass spectra and a broader range of identification score values obtained with commercial software for the identification of microorganisms. The type strain of B. pseudomallei (ATCC 23343) was isolated decades ago and is outstanding in the spectrum-based dendrograms probably due to massive methylations as indicated by two intensive series of mass increments of 14 Da specifically and reproducibly found in the spectra of this strain. Conclusions Handling of pathogens under BSL 3 conditions is dangerous and cumbersome but can be minimized by inactivation of bacteria with ethanol, subsequent protein extraction under BSL 1 conditions and MALDI-TOF MS analysis being faster than nucleic amplification methods. Our spectra demonstrated a higher homogeneity in B. mallei than in B. pseudomallei isolates. As expected for closely related species, the identification process with MALDI Biotyper software (Bruker Daltonik GmbH, Bremen, Germany) requires the careful selection of spectra from reference strains. When a dedicated reference set is used and spectra of high quality are acquired, it is possible to distinguish both species unambiguously. The need for a careful curation of reference spectra databases is stressed.
    Type of Medium: Online Resource
    ISSN: 1471-2180
    URL: Article
    DOI: 10.1186/1471-2180-12-229
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2012
    detail.hit.zdb_id: 2041505-9
    SSG: 12
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  • 10
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    Online Resource
    IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
    Stichting Nase ; 2015
    In:  Rhinology journal Vol. 53, No. 4 ( 2015-12-01), p. 359-364
    Details
    In: Rhinology journal, Stichting Nase, Vol. 53, No. 4 ( 2015-12-01), p. 359-364
    Abstract: Background: Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental Regulator 1 (IFRD1) gene was reported as a possible modifier of CF lung disease severity. Three IFRD1 SNPs were analyzed to investigate a possible effect on the development of NP in CF patients. Methods and patients: The DNA of 143 patients with CF (40 with and 103 without NP) was purified from peripheral blood samples. IFRD1 SNPs (rs7817, rs3807213, rs6968084) were genotyped by restriction enzyme analysis. Results: The T allele of the common polymorphisms rs7817 and the rs7817-rs3807213 haplotype were associated with NP (p = 0.002 and 0.004, respectively). Conclusions: These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients.
    Type of Medium: Online Resource
    ISSN: 0300-0729
    URL: Journal
    URL: Article
    DOI: 10.4193/Rhin
    DOI: 10.4193/Rhino14.229
    Language: Unknown
    Publisher: Stichting Nase
    Publication Date: 2015
    detail.hit.zdb_id: 2120704-5
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