Browsing by Author "Ramos Boluda, Esther"
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- Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsPublication . Aldrian, Denise; Vogel, Georg F.; Frey, Teresa K.; Ayyıldız Civan, Hasret; Aksu, Aysel Ünlüsoy; Avitzur, Yaron; Ramos Boluda, Esther; Çakır, Murat; Demir, Arzu Meltem; Deppisch, Caroline; Duba, Hans-Christoph; Düker, Gesche; Gerner, Patrick; Hertecant, Jozef; Hornová, Jarmila; Kathemann, Simone; Koeglmeier, Jutta; Koutroumpa, Arsinoi; Lanzersdorfer, Roland; Lev-Tzion, Raffi; Lima, Rosa; Mansour, Sahar; Meissl, Manfred; Melek, Jan; Miqdady, Mohamad; Montoya, Jorge Hernan; Posovszky, Carsten; Rachman, Yelena; Siahanidou, Tania; Tabbers, Merit; Uhlig, Holm H.; Ünal, Sevim; Wirth, Stefan; Ruemmele, Frank M.; Hess, Michael W.; Huber, Lukas A.; Müller, Thomas; Sturm, Ekkehard; Janecke, Andreas R.Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.
- Pediatric transplantation in Europe during the COVID‐19 pandemic: Early impact on activity and healthcarePublication . Doná, Daniele; Torres Canizales, Juan; Benetti, Elisa; Cananzi, Mara; De Corti, Federica; Calore, Elisabetta; Hierro, Loreto; Ramos Boluda, Esther; Melgosa Hijosa, Marta; Garcia Guereta, Luis; Pérez Martínez, Antonio; Barrios, Maribel; Costa Reis, Patricia; Teixeira, Ana; Lopes, Maria Francelina; Kaliciński, Piotr; Branchereau, Sophie; Boyer, Olivia; Debray, Dominque; Sciveres, Marco; Wennberg, Lars; Fischler, Björn; Barany, Peter; Baker, Alastair; Baumann, Ulrich; Schwerk, Nicolaus; Nicastro, Emanuele; Candusso, Manila; Toporski, Jacek; Sokal, Etienne; Stephenne, Xavier; Lindemans, Caroline; Miglinas, Marius; Rascon, Jelena; Jara, PalomaThe current pandemic SARS-CoV-2 has required an unusual allocation of resources that can negatively impact chronically ill patients and high-complexity procedures. Across the European Reference Network on Pediatric Transplantation (ERN TransplantChild), we conducted a survey to investigate the impact of the COVID-19 outbreak on pediatric transplant activity and healthcare practices in both solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). The replies of 30 professionals from 18 centers in Europe were collected. Twelve of 18 centers (67%) showed a reduction in their usual transplant activity. Additionally, outpatient visits have been modified and restricted to selected ones, and the use of telemedicine tools has increased. Additionally, a total of 14 COVID-19 pediatric transplanted patients were identified at the time of the survey, including eight transplant recipients and six candidates for transplantation. Only two moderate-severe cases were reported, both in HSCT setting. These survey results demonstrate the limitations in healthcare resources for pediatric transplantation patients during early stages of this pandemic. COVID-19 disease is a major worldwide challenge for the field of pediatric transplantation, where there will be a need for systematic data collection, encouraging regular discussions to address the long-term consequences for pediatric transplantation candidates, recipients, and their families.