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https://www.readbyqxmd.com/read/27926596/donor-genotype-and-intragraft-expression-of-cyp3a5-reflect-the-response-to-steroid-treatment-during-acute-renal-allograft-rejection
#1
N V Rekers, T M Flaig, M J K Mallat, M J Spruyt-Gerritse, M Zandbergen, J D H Anholts, I M Bajema, M C Clahsen-van Groningen, J Yang, J W de Fijter, F H J Claas, S Brakemeier, N Lachmann, R Kreutz, E de Heer, K Budde, J Bolbrinker, M Eikmans
BACKGROUND: Glucocorticoid-refractory acute rejection is a risk factor for inferior renal allograft outcome. We investigated genetic predisposition to the response to steroid treatment of acute allograft rejection. METHODS: Single nucleotide polymorphisms of genes involved in glucocorticoid signaling (GR, GLCCI1) and drug metabolism and transport (CYP3A5, ABCB1, and PXR) were analyzed in kidney transplant recipients (1995-2005, Leiden cohort, n=153) treated with methylprednisolone...
December 6, 2016: Transplantation
https://www.readbyqxmd.com/read/27917699/the-relation-of-dissociation-and-mind-wandering-to-unresolved-disorganized-attachment-an-experience-sampling-study
#2
David Marcusson-Clavertz, Sabina Gušić, Hans Bengtsson, Heidi Jacobsen, Etzel Cardeña
Individuals with unresolved/disorganized representations of childhood trauma (U/d attachment) report more psychological distress than others, but little is known about their everyday mentation. In the present study adults with childhood trauma (N = 45) completed the Berkeley-Leiden Adult Attachment Questionnaire-Unresolved (BLAAQ-U) and the Adult Attachment Interview (AAI), and reported everyday mentation during 5 days of experience sampling. The BLAAQ-U and the AAI showed a medium association with each other, but only the former significantly predicted negative affect, dissociation, and low control/awareness of mentation...
December 5, 2016: Attachment & Human Development
https://www.readbyqxmd.com/read/27913455/inherited-thrombophilia-a-double-edged-sword
#3
Saskia Middeldorp
Inherited thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). During the last decades, the practice of testing has evolved from testing selected populations, leading to high perceived risks, to broad testing for various conditions that included VTE, arterial thrombosis, and pregnancy complications. Because results of such tests usually do not guide treatment decisions, not testing patients with VTE for inherited thrombophilia is on the "Choosing Wisely" list endorsed by multiple specialty societies, including ASH...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27912793/antibodies-against-carbamylated-proteins-and-cyclic-citrullinated-peptides-in-systemic-lupus-erythematosus-results-from-two-well-defined-european-cohorts
#4
Michael Ziegelasch, Myrthe A M van Delft, Philip Wallin, Thomas Skogh, César Magro-Checa, Gerda M Steup-Beekman, Leendert A Trouw, Alf Kastbom, Christopher Sjöwall
BACKGROUND: Articular manifestations are common in systemic lupus erythematosus (SLE) whereas erosive disease is not. Antibodies to cyclic citrullinated peptide (anti-CCP) are citrulline-dependent in rheumatoid arthritis (RA), whereas the opposite is suggested in SLE, as reactivity with cyclic arginine peptide (CAP) is typically present. Antibodies targeting carbamylated proteins (anti-CarP) may occur in anti-CCP/rheumatoid factor (RF)-negative cases long before clinical onset of RA. We analysed these antibody specificities in sera from European patients with SLE in relation to phenotypes, smoking habits and imaging data...
December 3, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27887583/impact-of-physical-and-mental-health-on-life-satisfaction-in-old-age-a-population-based-observational-study
#5
Thomas Puvill, Jolanda Lindenberg, Antonius J M de Craen, Joris P J Slaets, Rudi G J Westendorp
BACKGROUND: It is widely assumed that poor health lowers life satisfaction when ageing. Yet, research suggests this relationship is not straightforward. This study investigated how older people evaluate their life when facing disease and disabilities. METHODS: The Leiden 85-plus Study, a prospectively followed cohort of a cohort of a middle-sized city in the Netherlands, all aged 85 years, that was age-representative of the general population, was used. Those with severe cognitive dysfunction were excluded (n = 501)...
November 25, 2016: BMC Geriatrics
https://www.readbyqxmd.com/read/27882227/g2691a-and-c2491t-mutations-of-factor-v-gene-and-pre-disposition-to-myocardial-infarction-in-morocco
#6
Wiam Hmimech, Brehima Diakite, Hind Hassani Idrissi, Khalil Hamzi, Farah Korchi, Dalila Baghdadi, Rachida Habbal, Sellama Nadifi
Coagulation factor Leiden mutation has been described as a common genetic risk factor for venous thrombosis; however, this mutation was reported to be practically absent in an African population. Recently, a novel non-sense mutation in the gene encoding factor V has been associated with the risk of occurrence of cardio-cerebrovascular diseases such as stroke and venous thrombosis. The aim of the present study was to investigate whether the factor V Leiden (FVL) and C2491T non-sense mutations are associated with the risk of developing myocardial infarction...
November 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27881971/familial-longevity-is-not-associated-with-major-differences-in-the-hypothalamic-pituitary-gonadal-axis-in-healthy-middle-aged-men
#7
Evie van der Spoel, Ferdinand Roelfsema, Steffy W Jansen, Abimbola A Akintola, Bart E Ballieux, Christa M Cobbaert, Gerard J Blauw, P Eline Slagboom, Rudi G J Westendorp, Hanno Pijl, Diana van Heemst
CONTEXT: A trade-off between fertility and longevity possibly exists. The association of the male hypothalamic-pituitary-gonadal (HPG) axis with familial longevity has not yet been investigated. OBJECTIVE: To study 24-h hormone concentration profiles of the HPG axis in men enriched for familial longevity and controls. DESIGN: We frequently sampled blood over 24 h in 10 healthy middle-aged male offspring of nonagenarian participants from the Leiden Longevity Study together with 10 male age-matched controls...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/27861706/predicting-risk-of-cognitive-decline-in-very-old-adults-using-three-models-the-framingham-stroke-risk-profile-the-cardiovascular-risk-factors-aging-and-dementia-model-and-oxi-inflammatory-biomarkers
#8
Stephanie L Harrison, Anton J M de Craen, Ngaire Kerse, Ruth Teh, Antoneta Granic, Karen Davies, Keith A Wesnes, Wendy P J den Elzen, Jacobijn Gussekloo, Thomas B L Kirkwood, Louise Robinson, Carol Jagger, Mario Siervo, Blossom C M Stephan
OBJECTIVES: To examine the Framingham Stroke Risk Profile (FSRP); the Cardiovascular Risk Factors, Aging, and Incidence of Dementia (CAIDE) risk score, and oxi-inflammatory load (cumulative risk score of three blood biomarkers-homocysteine, interleukin-6, C-reactive protein) for associations with cognitive decline using three cohort studies of very old adults and to examine whether incorporating these biomarkers with the risk scores can affect the association with cognitive decline. DESIGN: Three longitudinal, population-based cohort studies...
November 14, 2016: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/27861384/trends-of-triple-negative-breast-cancer-research-2007-2015-a-bibliometric-study
#9
Yiran Wang, Xiao Zhai, Chuan Liu, Ning Wang, Yajie Wang
BACKGROUND: Triple negative breast cancer (TNBC) is an aggressive breast cancer subtype. However, there have been limited data to evaluate the trend of TNBC research. This study aims to investigate the trend of TNBC research and compare the contribution of research from different regions, organizations, and authors. METHODS: TNBC-related publications from 2007 to 2015 were retrieved from the Web of Science database. Excel 2013 (Redmond, Washington, USA), GraphPad Prism 5 (GraphPad Prism Software Inc...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27858977/atypical-presentation-of-livedo-racemosa-in-a-factor-v-leiden-heterozygous-positive-patient-with-pseudomonas-aeruginosa-urosepsis
#10
Jesse Johnston, Rowland Noakes, Kurt Davidson
Impairment of the protein C pathway, detectable by reduced plasma levels of activated protein C (APC), are risk factors for venous thrombosis. Activated protein C maintains clotting homeostasis by regulation of pro-coagulant factors Va and VIIIa. Both infection and the factor V Leiden mutation reduce the formation of APC from protein C in the blood. With low levels of APC, excess factors Va and VIIIa exist, increasing the risk of thrombus formation. Livedo racemosa is characterised by a striking, violaceous branch-like pattering of the skin...
November 12, 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/27822356/efficacy-of-pazopanib-and-sunitinib-in-advanced-axial-chordoma-a-single-reference-centre-case-series
#11
Astrid Lipplaa, Sander Dijkstra, Hans Gelderblom
BACKGROUND: Chordomas are rare malignant tumours of the axial skeleton and skull base supposed to arise from cellular remnants of the notochord. These tumours have the potential to metastasize (30-40 %), usually in the later course of the disease. However, the greatest morbidity is usually a result of loco-regional recurrence with infiltration and destruction of surrounding bone and soft tissue. Patients with unresectable or metastatic chordoma are faced with a poor prognosis since cytotoxic chemotherapy or other systemic therapies have not proven their efficacy yet...
2016: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/27815482/mutations-of-two-major-coagulation-factors-are-not-associated-with-male-infertility
#12
Christos Yapijakis, Nikos Pachis, Dimitris Avgoustidis, Mary Adamopoulou, Zoe Serefoglou
BACKGROUND: Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date. MATERIALS AND METHODS: A total of 208 unrelated Greek men were investigated, including 108 infertile men with idiopathic oligozoospermia, azoospermia, and oligozoospermia of various etiologies, as well as 100 fertile male controls...
November 2016: In Vivo
https://www.readbyqxmd.com/read/27812779/a-novel-mutation-in-exon-2-of-fgb-caused-by-c-221g-t-%C3%A2-substitution-predicting-the-replacement-of-the-native-arginine-at-position-74-with-a-leucine-p-arg74leu-%C3%A2-in-a-proband-from-a-kurdish-family-with-dysfibrinogenaemia-and-familial-venous-and-arterial-thrombosis
#13
Abdul A Shlebak, Alexia D Katsarou, George Adams, Fiona Fernando
Dysfibrinogenaemias may present in either congenital or acquired form and are disorders of fibrinogen structure which may or may not be associated with abnormal function. More than 100 point mutations with single amino acid substitutions have been identified in over 400 families. These lead to defective DNA in the translated fibrinogen molecule. Such cases have improved our understanding of the fibrinogen-fibrin structure. Six members of a consanguineous family including a female proband, a female sibling, three male siblings and a daughter, with ages between 29 years and 53 years presented with early onset venous and premature arterial thromboembolic disease were investigated for a pro-thrombotic tendency associated with dysfibrinogenaemia...
November 3, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27811747/historical-considerations-and-comments-on-the-type-series-of-cyrtodactylus-marmoratus-gray-1831-with-an-updated-comparative-table-for-the-bent-toed-geckos-of-the-sunda-islands-and-sulawesi
#14
Sven Mecke, Max Kieckbusch, Lukas Hartmann, Hinrich Kaiser
Cyrtodactylus marmoratus Gray, 1831, a species of bent-toed gecko exhibiting a precloacal groove in males, was described on the basis of specimens collected by Heinrich Kuhl and Johan Conrad van Hasselt in Java, Greater Sunda Islands, Indonesia. Kluge (1985) subsequently designated a lectotype for C. marmoratus from a series of these specimens (i.e., syntypes), now housed in the herpetological collection at Naturalis (formerly the Rijksmuseum van Natuurlijke Historie; RMNH), Leiden, the Netherlands. Our work at Naturalis shows that the type series of C...
October 17, 2016: Zootaxa
https://www.readbyqxmd.com/read/27799457/the-prevalence-of-thrombophilia-in-women-with-recurrent-fetal-loss-and-outcome-of-anticoagulation-therapy-for-the-prevention-of-miscarriages
#15
Rawan Nahas, Walid Saliba, Adi Elias, Mazen Elias
OBJECTIVE: To estimate the prevalence of thrombophilia in women with recurrent miscarriages and to assess the effect of antithrombotic therapy. DESIGN: A retrospective cohort study between the years 2004 and 2010. SETTING: A hypercoagulation community clinic in northern Israel. PATIENTS: Four hundred ninety pregnant women referred for thrombophilia screening. MAIN OUTCOME MEASURES: Screening results for thrombophilia and antithrombotic treatment with enoxaparin, aspirin, or both and pregnancy outcomes...
October 30, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27797270/diagnosis-and-management-of-factor-v-leiden
#16
Elena Campello, Luca Spiezia, Paolo Simioni
The discovery of the factor V Leiden (FVL) missense mutation (Arg506Gln) causing factor V resistance to the anticoagulant action of activated protein C was a landmark that allowed a better understanding of the basis of inherited thrombotic risk. FVL mutation is currently the most common known hereditary defect predisposing to venous thrombosis. Areas covered: Novel data-driven FVL diagnosis and therapeutic approaches in the management of FVL carriers in various clinical settings. Brief conclusions on topics of direct clinical relevance including currently available indications for primary and secondary prophylaxis, the management of female, pediatric carriers and asymptomatic relatives...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27785407/frequency-and-association-of-1691-g-a-fvl-20210-g-a-pt-and-677-c-t-mthfr-with-deep-vein-thrombosis-in-the-population-of-bosnia-and-herzegovina
#17
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27770823/body-mass-index-and-extent-of-mri-detected-inflammation-opposite-effects-in-rheumatoid-arthritis-versus-other-arthritides-and-asymptomatic-persons
#18
Lukas Mangnus, Wouter P Nieuwenhuis, Hanna W van Steenbergen, Tom W J Huizinga, Monique Reijnierse, Annette H M van der Helm-van Mil
BACKGROUND: In the population a high body mass index (BMI) has been associated with slightly increased inflammatory markers. Within rheumatoid arthritis (RA), however, a high BMI has been associated with less radiographic progression; this phenomenon is unexplained. We hypothesized that the phenomenon is caused by an inverse relationship between BMI and inflammation in hand and foot joints with RA. To explore this hypothesis, local inflammation was measured using magnetic resonance imaging (MRI) in early arthritis patients presenting with RA or other arthritides and in asymptomatic volunteers...
October 22, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#19
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27766051/thrombophilia-in-east-asian-countries-are-there-any-genetic-differences-in-these-countries
#20
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
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