Advanced search in
Research products
arrow_drop_down
Searching FieldsTerms
Any field
arrow_drop_down
includes
arrow_drop_down
Include:
5 Research products, page 1 of 1

  • Other research products
  • Open Access
  • PL
  • Diposit Digital de Documents de la UAB

Relevance
arrow_drop_down
  • Open Access English
    Authors: 
    Fabian Eibensteiner; Valentin Ritschl; Gema Ariceta; Augustina Jankauskiene; Günter Klaus; Fabio Paglialonga; Alberto Edefonti; Bruno Ranchin; Claus Peter Schmitt; Rukshana Shroff; +7 more
    Countries: Spain, Poland

    Background: COVID-19 was declared a global health emergency. Since children are less than 1% of reported cases, there is limited information to develop evidence-based practice recommendations. The objective of this study was to rapidly gather expert knowledge and experience to guide the care of children with chronic kidney disease during the COVID-19 pandemic. Methods: A four-round multi-center Delphi exercise was conducted among 13 centers in 11 European countries of the European Pediatric Dialysis Working Group (EPDWG) between March, 16th and 20th 2020. Results were analyzed using a mixed methods qualitative approach and descriptive statistics. Results: Thirteen COVID-19 specific topics of particular need for guidance were identified. Main themes encompassed testing strategies and results (n = 4), changes in use of current therapeutics (n = 3), preventive measurements of transmission and management of COVID-19 (n = 3), and changes in standard clinical care (n = 3). Patterns of center-specific responses varied according to regulations and to availability of guidelines. Conclusions: As limited quantitative evidence is available in real time during the rapid spread of the COVID-19 pandemic, qualitative expert knowledge and experience represent the best evidence available. This Delphi exercise demonstrates that use of mixed methodologies embedded in an established network of experts allowed prompt analysis of pediatric nephrologists' response to COVID-19 during this fast-emerging public health crisis. Such rapid sharing of knowledge and local practices is essential to timely and optimal guidance for medical management of specific patient groups in multi-country health care systems such as those of Europe and the US.

  • Open Access English
    Authors: 
    Sergio Daga; Jie Ding; Constantinos Deltas; Judy Savige; Beata S. Lipska-Ziętkiewicz; Julia Hoefele; Frances Flinter; Daniel P. Gale; Marina Aksenova; Hirofumi Kai; +16 more
    Countries: Spain, Poland

    In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3, COL4A4, and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome.

  • Open Access
    Authors: 
    Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; +110 more
    Countries: Spain, Poland

    Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10 −12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10 −14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10 −103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10 −49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10 −93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10 −23 and OR = 3.39, P = 5.2 × 10 −82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk. Membranous nephropathy (MN) is a rare autoimmune disease of podocyte-directed antibodies, such as anti-phospholipase A2 receptor. Here, the authors report a genome-wide association study for MN and identify two previously unreported loci encompassing the NFKB1 and IRF4 genes and additional ancestry-specific effects.

  • Open Access
    Authors: 
    Valli, Claudia; Santero, Marilina; Prokop-Dorner, Anna; Howatt, Victoria; Johnston, Bradley; Zajac, Joanna; Han, Mi-Ah; Pereira, Ana; Nampo, Fernando; Guyatt, Gordon; +3 more
    Countries: Spain, Poland

    Background. In addition to social and environmental determinants, people's values and preferences determine daily food choices. This study evaluated adults' values and preferences regarding unprocessed red meat (URM) and processed meat (PM) and their willingness to change their consumption in the face of possible undesirable health consequences. Methods. A crosssectional mixed-methods study including a quantitative assessment through an online survey, a qualitative inquiry through semi-structured interviews, and a follow-up assessment through a telephone survey. We performed descriptive statistics, logistic regressions, and thematic analysis. Results. Of 304 participants, over 75% were unwilling to stop their consumption of either URM or PM, and of those unwilling to stop, over 80% were also unwilling to reduce. Men were less likely to stop meat intake than women (odds ratios < 0.4). From the semi-structured interviews, we identified three main themes: the social and/or family context of meat consumption, healthand non-health-related concerns about meat, and uncertainty of the evidence. At three months, 63% of participants reported no changes in meat intake. Conclusions. When informed about the cancer incidence and mortality risks of meat consumption, most respondents would not reduce their intake. Public health and clinical nutrition guidelines should ensure that their recommendations are consistent with population values and preferences.

  • Open Access English
    Authors: 
    Ri J. Liesner; Aby Abraham; Carmen Altisent; Mark J. Belletrutti; Manuel Carcao; Manuela Carvalho; Herve Chambost; Anthony K.C. Chan; Leonid Dubey; Jonathan Ducore; +21 more
    Countries: Spain, Poland

    Funding: This trial was sponsored by Octapharma AG (Lachen, Switzerland) Introduction FVIII inhibitor development is the most serious contemporary treatment complication in haemophilia A, particularly in previously untreated patients (PUPs). No inhibitors developed in clinical trials in previously treated patients treated with simoctocog alfa (Nuwiq), a fourth-generation recombinant FVIII produced in a human cell line. Methods The NuProtect study investigated the immunogenicity of simoctocog alfa in PUPs. NuProtect was a prospective, multinational, open-label, non-controlled, phase III study. PUPs with severe haemophilia A (FVIII:C <1%) of any age and ethnicity were treated with simoctocog alfa for 100 exposure days or a maximum of 5 years. Patients were true PUPs without prior exposure to FVIII concentrates or blood components. Inhibitor titres were measured with the Nijmegen-modified Bethesda assay; cut-off for positivity was 0.6 BU mL −1 (≥0.6 to <5 low-titre, ≥5 high titre). Results A total of 108 PUPs with a median age at first treatment of 12.0 months (interquartile range: 8.0-23.5) were treated with simoctocog alfa. F8 mutation type was known for 102 patients (94.4%) of whom 90 (88.2%) had null F8 mutations and 12 (11.8%) had non-null mutations. Of 105 PUPs evaluable for inhibitor development, 28 (26.7%) developed inhibitors; 17 high titre (16.2%) and 11 low titre (10.5%). No PUPs with non-null F8 mutations developed inhibitors. Conclusion In the NuProtect study, the rate of inhibitor development in PUPs with severe haemophilia A treated with simoctocog alfa was lower than the rate reported for hamster-cell-derived recombinant factor VIII products in other recent clinical trials. No inhibitors were reported in PUPs with non-null F8 mutations.

Send a message
How can we help?
We usually respond in a few hours.