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Clinical outcome and risk factors for failure in late acute prosthetic joint infections treated with debridement and implant retention.
Clinical outcome and risk factors for failure in late acute prosthetic joint infections treated with debridement and implant retention.
J Infect. 2018 Aug 06;:
Authors: Wouthuyzen-Bakker M, Sebillotte M, Lomas J, Taylor A, Palomares EB, Murillo O, Parvizi J, Shohat N, Reinoso JC, Sánchez RE, Fernandez-Sampedro M, Senneville E, Huotari K, Allende JMB, Garcia-Cañete J, Lora-Tamayo J, Ferrari MC, Vaznaisiene D, Yusuf E, Aboltins C, Trebse R, Salles MJ, Benito N, Vila A, Toro MDD, Kramer TS, Petersdorf S, Diaz-Brito V, Tufan ZK, Sanchez M, Arvieux C, Soriano A, ESCMID Study Group for Implant-Associated Infections (ESGIAI)
Abstract
OBJECTIVES: Debridement, antibiotics and implant retention (DAIR) is the recommended treatment for all acute prosthetic joint infections (PJI), but its efficacy in patients with late acute (LA) PJI is not well described.
METHODS: Patients diagnosed with LA PJI between 2005 and 2015 were retrospectively evaluated. LA PJI was defined as the development of acute symptoms (≤ 3 weeks) occurring ≥ 3 months after arthroplasty. Failure was defined as: i) the need for implant removal, ii) infection related death, iii) the need for suppressive antibiotic therapy and/or iv) relapse or reinfection during follow-up.
RESULTS: 340 patients from 27 centers were included. The overall failure rate was 45.0% (153/340). Failure was dominated by Staphylococcus aureus PJI (54.7%, 76/139). Significant independent preoperative risk factors for failure according to the multivariate analysis were: fracture as indication for the prosthesis (odds ratio (OR) 5.4), rheumatoid arthritis (OR 5.1), age above 80 years (OR 2.6), male gender (OR 2.0) and C-reactive protein >150 mg/L (OR 2.0). Exchanging the mobile components during DAIR was the strongest predictor for treatment success (OR 0.35).
CONCLUSION: LA PJIs have a high failure rate. Treatment strategies should be individualized according to patients’ age, comorbidity, clinical presentation and microorganism causing the infection.
PMID: 30092305 [PubMed – as supplied by publisher]
Methotrexate and Thioguanine Rescue Therapy for Conventional Thiopurine Failing Ulcerative Colitis Patients: A Multi-center Database Study on Tolerability and Effectiveness.
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Methotrexate and Thioguanine Rescue Therapy for Conventional Thiopurine Failing Ulcerative Colitis Patients: A Multi-center Database Study on Tolerability and Effectiveness.
Inflamm Bowel Dis. 2018 Apr 13;:
… Continue reading
Posted in Inflamm Bowel Dis
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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Nat Genet. 2018 Jan;50(1):42-53
Authors: Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmüller J, Ang W, Barr RG, Beaty TH, Becker AB, Beilby J, Bisgaard H, Bjornsdottir US, Bleecker E, Bønnelykke K, Boomsma DI, Bouzigon E, Brightling CE, Brossard M, Brusselle GG, Burchard E, Burkart KM, Bush A, Chan-Yeung M, Chung KF, Couto Alves A, Curtin JA, Custovic A, Daley D, de Jongste JC, Del-Rio-Navarro BE, Donohue KM, Duijts L, Eng C, Eriksson JG, Farrall M, Fedorova Y, Feenstra B, Ferreira MA, Australian Asthma Genetics Consortium (AAGC) collaborators, Freidin MB, Gajdos Z, Gauderman J, Gehring U, Geller F, Genuneit J, Gharib SA, Gilliland F, Granell R, Graves PE, Gudbjartsson DF, Haahtela T, Heckbert SR, Heederik D, Heinrich J, Heliövaara M, Henderson J, Himes BE, Hirose H, Hirschhorn JN, Hofman A, Holt P, Hottenga J, Hudson TJ, Hui J, Imboden M, Ivanov V, Jaddoe VWV, James A, Janson C, Jarvelin MR, Jarvis D, Jones G, Jonsdottir I, Jousilahti P, Kabesch M, Kähönen M, Kantor DB, Karunas AS, Khusnutdinova E, Koppelman GH, Kozyrskyj AL, Kreiner E, Kubo M, Kumar R, Kumar A, Kuokkanen M, Lahousse L, Laitinen T, Laprise C, Lathrop M, Lau S, Lee YA, Lehtimäki T, Letort S, Levin AM, Li G, Liang L, Loehr LR, London SJ, Loth DW, Manichaikul A, Marenholz I, Martinez FJ, Matheson MC, Mathias RA, Matsumoto K, Mbarek H, McArdle WL, Melbye M, Melén E, Meyers D, Michel S, Mohamdi H, Musk AW, Myers RA, Nieuwenhuis MAE, Noguchi E, O’Connor GT, Ogorodova LM, Palmer CD, Palotie A, Park JE, Pennell CE, Pershagen G, Polonikov A, Postma DS, Probst-Hensch N, Puzyrev VP, Raby BA, Raitakari OT, Ramasamy A, Rich SS, Robertson CF, Romieu I, Salam MT, Salomaa V, Schlünssen V, Scott R, Selivanova PA, Sigsgaard T, Simpson A, Siroux V, Smith LJ, Solodilova M, Standl M, Stefansson K, Strachan DP, Stricker BH, Takahashi A, Thompson PJ, Thorleifsson G, Thorsteinsdottir U, Tiesler CMT, Torgerson DG, Tsunoda T, Uitterlinden AG, van der Valk RJP, Vaysse A, Vedantam S, von Berg A, von Mutius E, Vonk JM, Waage J, Wareham NJ, Weiss ST, White WB, Wickman M, Widén E, Willemsen G, Williams LK, Wouters IM, Yang JJ, Zhao JH, Moffatt MF, Ober C, Nicolae DL
Abstract
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.
PMID: 29273806 [PubMed – in process]
Practical Issues in Implementing Whole-Genome-Sequencing in Routine Diagnostic Microbiology.
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Practical Issues in Implementing Whole-Genome-Sequencing in Routine Diagnostic Microbiology.
Clin Microbiol Infect. 2017 Nov 05;:
Authors: Rossen JWA, Friedrich AW, Moran-Gilad J, ESCMID Study Group f… Continue reading
Posted in Clin Microbiol Infect
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Effect of parathyroidectomy and cinacalcet on quality of life in patients with end-stage renal disease-related hyperparathyroidism: a systematic review.
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Effect of parathyroidectomy and cinacalcet on quality of life in patients with end-stage renal disease-related hyperparathyroidism: a systematic review.
Nephrol Dial Transplant. 2017 Apr 10;:
Authors: van der Plas WY, Dulfer RR, Engelsman AF, Vogt L, de Borst MH, van Ginhoven TM, Kruijff S, Dutch Hyperparathryoid Study Group (DHSG)
Abstract
Background.: Patients with end-stage renal disease (ESRD) have a decreased quality of life (QoL), which is attributable in part to ESRD-related hyperparathyroidism (HPT). Both cinacalcet and parathyroidectomy (PTx) are treatments for advanced HPT, but their effects on QoL are unclear. We performed a systematic review to evaluate the impact of cinacalcet and PTx on QoL.
Methods.: A systematic literature search was performed using PubMed and EMBASE databases to identify relevant articles. The search was based on the following keywords: ‘parathyroidectomy’ or ‘cinacalcet’, ‘secondary hyperparathyroidism’ or ‘renal hyperparathyroidism’ combined with ‘quality of life’ or ‘SF-36’ or ‘symptomatology’. Only studies reporting on QoL at baseline and during follow-up were included. QoL scores were extracted from the selected manuscripts and weighted means were calculated. Due to a lack of available data on QoL improvement in patients using cinacalcet, a meta-analysis could not be performed.
Results.: In all, eight articles reached our inclusion criteria. Of this, five articles reported the effect of PTx on QoL. All PTx studies were observational and non-controlled. The physical component scores of the 36-item Medical Outcomes Study Short-Form Health Survey increased significantly with a weighted mean of 35.5% (P < 0.05). Mental component scores increased with 13.7% (P < 0.05). Parathyroidectomy assessment of symptom scores improved from 561 preoperatively to 302 postoperatively (-259 points; -46.2%). Visual analogue scale scores decreased significantly for skin itching (46.6%), joint pain (30.4%) and muscle weakness (28.7%) (P < 0.05). Three studies on the effect of cinacalcet on QoL were included, including one randomized controlled trial. None of these studies showed significant improvement of physical component and mental component scores.
Conclusions.: PTx improved QoL in patients treated for ESRD-related HPT, whereas cinacalcet did not. The difference in impact between PTx and cinacalcet on QoL has not been compared directly.
PMID: 28402557 [PubMed – as supplied by publisher]
Posted in Nephrol Dial Transplant
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A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts.
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts.
J Am Acad Child Adolesc Psychiatry. 2016 Oct;55(10):896-905.e6
Authors: Middeldorp CM, Hammerschlag AR, Ouwens KG, Groen-Blokhuis MM, St Pourcain B, Greven CU, Pappa I, Tiesler CM, Ang W, Nolte IM, Vilor-Tejedor N, Bacelis J, Ebejer JL, Zhao H, Davies GE, Ehli EA, Evans DM, Fedko IO, Guxens M, Hottenga JJ, Hudziak JJ, Jugessur A, Kemp JP, Krapohl E, Martin NG, Murcia M, Myhre R, Ormel J, Ring SM, Standl M, Stergiakouli E, Stoltenberg C, Thiering E, Timpson NJ, Trzaskowski M, van der Most PJ, Wang C, EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Psychiatric Genomics Consortium ADHD Working Group, Nyholt DR, Medland SE, Neale B, Jacobsson B, Sunyer J, Hartman CA, Whitehouse AJ, Pennell CE, Heinrich J, Plomin R, Davey Smith G, Tiemeier H, Posthuma D, Boomsma DI
Abstract
OBJECTIVE: The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis.
METHOD: Within the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium, genome-wide single nucleotide polymorphisms (SNPs) and ADHD symptom scores were available for 17,666 children (<13 years of age) from nine population-based cohorts. SNP-based heritability was estimated in data from the three largest cohorts. Meta-analysis based on genome-wide association (GWA) analyses with SNPs was followed by gene-based association tests, and the overlap in results with a meta-analysis in the Psychiatric Genomics Consortium (PGC) case-control ADHD study was investigated.
RESULTS: SNP-based heritability ranged from 5% to 34%, indicating that variation in common genetic variants influences ADHD symptom scores. The meta-analysis did not detect genome-wide significant SNPs, but three genes, lying close to each other with SNPs in high linkage disequilibrium (LD), showed a gene-wide significant association (p values between 1.46 × 10(-6) and 2.66 × 10(-6)). One gene, WASL, is involved in neuronal development. Both SNP- and gene-based analyses indicated overlap with the PGC meta-analysis results with the genetic correlation estimated at 0.96.
CONCLUSION: The SNP-based heritability for ADHD symptom scores indicates a polygenic architecture, and genes involved in neurite outgrowth are possibly involved. Continuous and dichotomous measures of ADHD appear to assess a genetically common phenotype. A next step is to combine data from population-based and case-control cohorts in genetic association studies to increase sample size and to improve statistical power for identifying genetic variants.
PMID: 27663945 [PubMed – in process]
Posted in J Am Acad Child Adolesc Psychiatry
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Performance of cardiac cadmium-zinc-telluride gamma camera imaging in coronary artery disease: a review from the cardiovascular committee of the European Association of Nuclear Medicine (EANM).
Performance of cardiac cadmium-zinc-telluride gamma camera imaging in coronary artery disease: a review from the cardiovascular committee of the European Association of Nuclear Medicine (EANM).
Eur J Nucl Med Mol Imaging. 2016 Aug 19;
Authors: Agostini D, Marie PY, Ben-Haim S, Rouzet F, Songy B, Giordano A, Gimelli A, Hyafil F, Sciagrà R, Bucerius J, Verberne HJ, Slart RH, Lindner O, Cardiovascular Committee of the European Association of Nuclear Medicine (EANM)
Abstract
The trade-off between resolution and count sensitivity dominates the performance of standard gamma cameras and dictates the need for relatively high doses of radioactivity of the used radiopharmaceuticals in order to limit image acquisition duration. The introduction of cadmium-zinc-telluride (CZT)-based cameras may overcome some of the limitations against conventional gamma cameras. CZT cameras used for the evaluation of myocardial perfusion have been shown to have a higher count sensitivity compared to conventional single photon emission computed tomography (SPECT) techniques. CZT image quality is further improved by the development of a dedicated three-dimensional iterative reconstruction algorithm, based on maximum likelihood expectation maximization (MLEM), which corrects for the loss in spatial resolution due to line response function of the collimator. All these innovations significantly reduce imaging time and result in a lower patient’s radiation exposure compared with standard SPECT. To guide current and possible future users of the CZT technique for myocardial perfusion imaging, the Cardiovascular Committee of the European Association of Nuclear Medicine, starting from the experience of its members, has decided to examine the current literature regarding procedures and clinical data on CZT cameras. The committee hereby aims 1) to identify the main acquisitions protocols; 2) to evaluate the diagnostic and prognostic value of CZT derived myocardial perfusion, and finally 3) to determine the impact of CZT on radiation exposure.
PMID: 27542010 [PubMed – as supplied by publisher]
Posted in Eur J Nucl Med Mol Imaging
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Strict Selection Alone of Patients Undergoing Liver Transplantation for Hilar Cholangiocarcinoma Is Associated with Improved Survival.
Strict Selection Alone of Patients Undergoing Liver Transplantation for Hilar Cholangiocarcinoma Is Associated with Improved Survival.
PLoS One. 2016;11(6):e0156127
Authors: Mantel HT, Westerkamp AC, Adam R, Bennet WF, Seehofer D, Settmacher U, Sánchez-Bueno F, Fabregat Prous J, Boleslawski E, Friman S, Porte RJ, European Liver and Intestine Transplant Association (ELITA)
Abstract
Liver transplantation for hilar cholangiocarcinoma (hCCA) has regained attention since the Mayo Clinic reported their favorable results with the use of a neo-adjuvant chemoradiation protocol. However, debate remains whether the success of the protocol should be attributed to the neo-adjuvant therapy or to the strict selection criteria that are being applied. The aim of this study was to investigate the value of patient selection alone on the outcome of liver transplantation for hCCA. In this retrospective study, patients that were transplanted for hCCA between1990 and 2010 in Europe were identified using the European Liver Transplant Registry (ELTR). Twenty-one centers reported 173 patients (69%) of a total of 249 patients in the ELTR. Twenty-six patients were wrongly coded, resulting in a study group of 147 patients. We identified 28 patients (19%) who met the strict selection criteria of the Mayo Clinic protocol, but had not undergone neo-adjuvant chemoradiation therapy. Five-year survival in this subgroup was 59%, which is comparable to patients with pretreatment pathological confirmed hCCA that were transplanted after completion of the chemoradiation protocol at the Mayo Clinic. In conclusion, although the results should be cautiously interpreted, this study suggests that with strict selection alone, improved survival after transplantation can be achieved, approaching the Mayo Clinic experience.
PMID: 27276221 [PubMed – as supplied by publisher]
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.
Curr Opin Neurol. 2016 Jan 5;
Authors: Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, S… Continue reading
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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
Curr Opin Neurol. 2016 Jan 5;
Authors: Obici L, Kuks JB, Buades J, Adams D, Suhr OB, … Continue reading
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Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
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Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
J Allergy Clin Immunol. 2014 Jul;134(1):46-55
Authors: van der Valk RJ, Duijts L, Timpson NJ, Salam MT, Standl M, Curtin JA, Genuneit J, Kerhof M, Kreiner-Møller E, Cáceres A, Gref A, Liang LL, Taal HR, Bouzigon E, Demenais F, Nadif R, Ober C, Thompson EE, Estrada K, Hofman A, Uitterlinden AG, van Duijn C, Rivadeneira F, Li X, Eckel SP, Berhane K, Gauderman WJ, Granell R, Evans DM, St Pourcain B, McArdle W, Kemp JP, Smith GD, Tiesler CM, Flexeder C, Simpson A, Murray CS, Fuchs O, Postma DS, Bønnelykke K, Torrent M, Andersson M, Sleiman P, Hakonarson H, Cookson WO, Moffatt MF, Paternoster L, Melén E, Sunyer J, Bisgaard H, Koppelman GH, Ege M, Custovic A, Heinrich J, Gilliland FD, Henderson AJ, Jaddoe VW, de Jongste JC, EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium
Abstract
BACKGROUND: The fraction of exhaled nitric oxide (Feno) value is a biomarker of eosinophilic airway inflammation and is associated with childhood asthma. Identification of common genetic variants associated with childhood Feno values might help to define biological mechanisms related to specific asthma phenotypes.
OBJECTIVE: We sought to identify the genetic variants associated with childhood Feno values and their relation with asthma.
METHODS: Feno values were measured in children age 5 to 15 years. In 14 genome-wide association studies (N = 8,858), we examined the associations of approximately 2.5 million single nucleotide polymorphisms (SNPs) with Feno values. Subsequently, we assessed whether significant SNPs were expression quantitative trait loci in genome-wide expression data sets of lymphoblastoid cell lines (n = 1,830) and were related to asthma in a previously published genome-wide association data set (cases, n = 10,365; control subjects: n = 16,110).
RESULTS: We identified 3 SNPs associated with Feno values: rs3751972 in LYR motif containing 9 (LYRM9; P = 1.97 × 10(-10)) and rs944722 in inducible nitric oxide synthase 2 (NOS2; P = 1.28 × 10(-9)), both of which are located at 17q11.2-q12, and rs8069176 near gasdermin B (GSDMB; P = 1.88 × 10(-8)) at 17q12-q21. We found a cis expression quantitative trait locus for the transcript soluble galactoside-binding lectin 9 (LGALS9) that is in linkage disequilibrium with rs944722. rs8069176 was associated with GSDMB and ORM1-like 3 (ORMDL3) expression. rs8069176 at 17q12-q21, but not rs3751972 and rs944722 at 17q11.2-q12, were associated with physician-diagnosed asthma.
CONCLUSION: This study identified 3 variants associated with Feno values, explaining 0.95% of the variance. Identification of functional SNPs and haplotypes in these regions might provide novel insight into the regulation of Feno values. This study highlights that both shared and distinct genetic factors affect Feno values and childhood asthma.
PMID: 24315451 [PubMed – indexed for MEDLINE]
Posted in J Allergy Clin Immunol
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature. 2014 Jul 23;
Authors: Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Hua Zhao J, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coviello AD, Cox A, Czene K, D’adamo AP, Davey Smith G, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindblom A, Mägi R, Magnusson PK, Mannermaa A, Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA, Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL, Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkäs K, Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A, Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U, Stampfer MJ, Stöckl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA, Vollenweider P, Völzke H, Waeber G, Waldenberger M, Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ, Australian Ovarian Cancer Study, The GENICA Network, kConFab, The LifeLines Cohort Study, The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger C, Harris TB, Ingelsson E, Järvelin MR, Kraft P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sørensen TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM, Ong KK
Abstract
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
PMID: 25231870 [PubMed – as supplied by publisher]
Childhood abuse and neglect in relation to the presence and persistence of psychotic and depressive symptomatology.
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Childhood abuse and neglect in relation to the presence and persistence of psychotic and depressive symptomatology.
Psychol Med. 2014 Jul 17;:1-15
Authors: van Dam DS, van Nierop M, Viechtbauer W, Velthorst E, van Winkel R, Genetic Risk and Outcome of Psychosis (GROUP) investigators, Bruggeman R, Cahn W, de Haan L, Kahn RS, Meijer CJ, Myin-Germeys I, van Os J, Wiersma D
Abstract
BACKGROUND: The association between childhood trauma and psychotic and depressive symptomatology is well established. However, less is known about the specificity and course of these symptoms in relation to childhood trauma.
METHOD: In a large sample (n = 2765) of patients with psychosis (n = 1119), their siblings (n = 1057) and controls (n = 589), multivariate (mixed-effects) regression analyses with multiple outcomes were performed to examine the association between childhood trauma and psychotic and depressive symptomatology over a 3-year period.
RESULTS: A dose-response relationship was found between childhood trauma and psychosis. Abuse was more strongly associated with positive symptoms than with negative symptoms whereas the strength of the associations between neglect and positive and negative symptoms was comparable. In patients, similar associations between childhood trauma and psychotic or depressive symptoms were found, and in siblings and controls, stronger associations were found between trauma and depressive symptomatology. Childhood trauma was not related to a differential course of symptoms over a 3-year time period.
CONCLUSIONS: In congruence with earlier work, our findings suggest that childhood trauma, and abuse in particular, is associated with (subthreshold) psychosis. However, childhood trauma does not seem to be associated with a differential course of symptoms, nor does it uniquely heighten the chance of developing (subthreshold) psychotic symptomatology. Our results indicate that trauma may instead contribute to a shared vulnerability for psychotic and depressive symptoms.
PMID: 25065372 [PubMed – as supplied by publisher]
Posted in Psychol Med
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Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin.
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Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin.
PLoS Genet. 2014 Jul;10(7):e1004474
Authors: Bolton JL, Hayward C, Direk N, Lewis JG, Hammond GL, Hill LA, Anderson A, Huffman J, Wilson JF, Campbell H, Rudan I, Wright A, Hastie N, Wild SH, Velders FP, Hofman A, Uitterlinden AG, Lahti J, Räikkönen K, Kajantie E, Widen E, Palotie A, Eriksson JG, Kaakinen M, Järvelin MR, Timpson NJ, Davey Smith G, Ring SM, Evans DM, St Pourcain B, Tanaka T, Milaneschi Y, Bandinelli S, Ferrucci L, van der Harst P, Rosmalen JG, Bakker SJ, Verweij N, Dullaart RP, Mahajan A, Lindgren CM, Morris A, Lind L, Ingelsson E, Anderson LN, Pennell CE, Lye SJ, Matthews SG, Eriksson J, Mellstrom D, Ohlsson C, Price JF, Strachan MW, Reynolds RM, Tiemeier H, Walker BR, on behalf of the CORtisol NETwork (CORNET) Consortium
Abstract
Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG). Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136) influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.
PMID: 25010111 [PubMed – as supplied by publisher]
Posted in PLoS Genet
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Changing incidence and improved survival of gliomas.
Changing incidence and improved survival of gliomas.
Eur J Cancer. 2014 Jun 24;
Authors: Ho VK, Reijneveld JC, Enting RH, Bienfait HP, Robe P, Baumert BG, Visser O, On behalf of the Dutch Society for Neuro-Oncology (… Continue reading
Posted in Eur J Cancer
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Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
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Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Nat Methods. 2014 Jun 22;
Authors: Lundby A, Rossin EJ, Steffensen AB, Acha MR, Newto… Continue reading
Posted in Nat Methods
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Primary and secondary glomerulonephritides 1.
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Primary and secondary glomerulonephritides 1.
Nephrol Dial Transplant. 2014 May;29 Suppl 3:iii186-iii200
Authors: Proletov I, Sipovskii V, Smirnov A, Hayashi N, Akiyama S, Okuyama H, Matsui Y, Fujimoto K, Atsumi H, Adachi H, Yamaya H, Maruyama S, Imai E, Matsuo S, Yokoyama H, Prasad N, Jaiswal A, Agarwal V, Yadav B, Rai M, Shin DH, Han IM, Moon SJ, Yoo TH, Faria B, Henriques C, Matos AC, Daha MR, Pestana M, Seelen M, Lundberg S, Carlsson MC, Leffler H, Påhlsson P, Segelmark M, Camilla R, Donadio ME, Loiacono E, Peruzzi L, Amore A, Chiale F, Vergano L, Gallo R, Boido A, Conrieri M, Bianciotto M, Bosetti FM, Mengozzi G, Puccinelli MP, Guidi C, Lastauka I, Coppo R, Nishiwaki H, Hasegawa T, Nagayama Y, Komukai D, Kaneshima N, Sasai F, Yoshimura A, Wang CL, Wei XY, Lv L, Jia NY, Vågane AM, Knoop T, Vikse BE, Reisæter AV, Bjørneklett R, Mezzina N, Brunini F, Trezzi B, Gallieni M, D’Amico M, Stellato T, Santoro D, Ghiggeri GM, Radice A, Sinico RA, Kronbichler A, Kerschbaum J, Mayer G, Rudnicki M, Elena GS, Paula Jara CE, Jorge Enrique RR, Manuel P, Glosen (Spanish Group For Study Of Glomerular DiseAses), Paek J, Hwang E, Park S, Caliskan Y, Aksoy A, Oztop N, Ozluk Y, Artan AS, Yazici H, Kilicaslan I, Sever MS, Yildiz A, Ihara K, Iimori S, Okado T, Rai T, Uchida S, Sasaki S, Stangou M, Bantis C, Skoularopoulou M, Toulkeridis G, Labropoulou I, Kasimatis S, Kouri NM, Papagianni A, Efstratiadis G, Mircescu G, Stancu S, Zugravu A, Petrescu L, Andreiana I, Taran L, Suzuki T, Iyoda M, Yamaguchi Y, Watanabe M, Wada Y, Matsumoto K, Shindo-Hirai Y, Kuno Y, Yamamoto Y, Saito T, Iseri K, Shibata T, Gniewek K, Krajewska M, Jakuszko K, Koscielska-Kasprzak K, Klinger M, Nunes AT, Ferreira I, Neto R, Mariz E, Pereira E, Frazão J, Praça A, Sampaio S, Pestana M, Kim HJ, Lee JE, Proletov I, Galkina O, Bogdanova E, Zubina I, Sipovskii V, Smirnov A, Oliveira CB, Oliveira AS, Carvalho CJ, Sette LH, Fernandes GV, Cavalcante MA, Valente LM, Ismail G, Andronesi A, Jurubita R, Bobeica R, Finocchietti D, Cantaluppi V, Medica D, Daidola G, Colla L, Besso L, Burdese M, Segoloni GP, Biancone L, Camussi G, Goto S, Nakai K, Ito J, Fujii H, Tasaki K, Suzuki T, Fukami K, Hara S, Nishi S, Hayami N, Ubara Y, Hoshino J, Takaichi K, Suwabe T, Sumida K, Mise K, Wang CL, Tian YQ, Wang H, Saganova E, Proletov I, Galkina O, Bogdanova E, Zubina I, Sipovskii V, Smirnov A, Stancu S, Mandache E, Zugravu A, Petrescu L, Avram A, Mircescu G, Angelini C, Reggiani F, Podestà MA, Cucchiari D, Malesci A, Badalamenti S, Laganović M, Ars E, Zivko M, Zeljkovic Vrkić T, Cˇorić M, Karanović S, Torra R, Jelaković B, Jia NY, Wang CL, Zhang YH, Nan L, Nagasawa Y, Yamamoto R, Shinzawa M, Hamahata S, Kida A, Yahiro M, Kuragano T, Shoji T, Hayashi T, Nagatoya K, Yamauchi A, Isaka Y, Nakanishi T, Ivkovic V, Premuzic V, Laganovic M, Dika Z, Kos J, Zeljkovic Vrkic T, Fistrek Prlic M, Zivko M, Jelakovic B, Gigliotti P, Leone F, Lofaro D, Papalia T, Mollica F, Mollica A, Vizza D, Perri A, Bonofilgio R, Meneses G, Viana H, Santos MC, Ferreira C, Calado J, Carvalho F, Remédio F, Nolasco F, Caliskan Y, Oztop N, Aksoy A, Ozluk Y, Artan AS, Turkmen A, Kilicaslan I, Yildiz A, Sever MS, Nagaraju SP, Kosuru S, Parthasarathy R, Bairy M, Prabhu RA, Guddattu V, Koulmane Laxminarayana SL, Oruc A, Gullulu M, Acikgoz E, Aktas N, Yildiz A, Gul B, Premuzic V, Laganovic M, Ivkovic V, Coric M, Zeljkovic Vrkic T, Fodor L, Dika Z, Kos J, Fistrek Prlic M, Zivko M, Jelakovic B, Bale CB, Dighe TA, Kate P, Karnik S, Sajgure A, Sharma A, Korpe J, Jeloka T, Ambekar N, Sadre A, Buch A, Mulay A, Mérida E, Huerta A, Gutiérrez E, Hernández E, Sevillano A, Caro J, Cavero T, Morales E, Moreno JA, Praga M
PMID: 24849957 [PubMed – in process]
Posted in Nephrol Dial Transplant
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