Search Results - "rare diseases"

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review by Ralitsa Raycheva, Ralitsa Raycheva, Kostadin Kostadinov, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov, Rumen Stefanov

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Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany by Ana Babac, Martin Frank, Frédéric Pauer, Svenja Litzkendorf, Daniel Rosenfeldt, Verena Lührs, Lisa Biehl, Tobias Hartz, Holger Storf, Franziska Schauer, Thomas O. F. Wagner, J-Matthias Graf von der Schulenburg

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48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community by Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi

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143 Hospital mortality in patients with rare diseases during the COVID-19 and SARS pandemics: results from a 7.5 million population by Claudia Ching Yan Chung, Wilfred Hing Sang Wong, Brian Hon Yin Chung

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Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea by Jaeso Cho, Young Shin Joo, Jihoon G. Yoon, Seung Bok Lee, Soo Yeon Kim, Jong Hee Chae, Yong Jin Kwon

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Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings by Silke Wiegand-Grefe, Anna Liedtke, Lydia Morgenstern, Antonia Hoff, Anikó Csengoe-Norris, Jessika Johannsen, Jonas Denecke, Claus Barkmann, Benjamin Grolle, Anne Daubmann, Karl Wegscheider, Johannes Boettcher

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INEDITHOS: a Hospital Pedagogy project devoted to improving the quality of life of children and young people with rare diseases from the intervention, and research with university volunteering. by Francisca NEGRE BENNASAR

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Gliomatose leptomeníngea primária difusa: uma doença rara em pacientes pediátricos Primary diffuse leptomeningeal gliomatosis: a rare disease in pediatric patients by Francisco Helder Cavalcante Felix

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Quality of life (QoL) for people with primary sclerosing cholangitis (PSC): a pragmatic strategy for identifying relevant QoL issues for rare disease by Elena Marcus, Patrick Stone, Douglas Thorburn, Martine Walmsley, Bella Vivat

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Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases by Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti

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Budget impact analysis of high-priced orphan medicinal products intended for the treatment of rare diseases in China: evidence from a densely populated metropolis of Chengdu by Xiaoxing Zhang, Tingting Zhou, Jing Zhou, Doudou Zhang, Yili Yang, Jay Pan

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Severe congenital neutropenia type 4: a rare disease harboring a G6pc3 gene pathogenic variant particular to the mexican population by Larissa López-Rodríguez, Yevgeniya Svyryd, Edmar O. Benítez-Alonso, Pamela Rivero-García, Leonora Luna-Muñoz, Osvaldo M. Mutchinick

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A case of spontaneous coronary artery dissection presenting with acute anterior wall myocardial infarction in a young adult male - an increasingly recognized rare disease by Mohamed Taha, Htun Latt, Jaafar Al-Khafaji, Mohamed Ali, Richard Seher

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Primary hepatic metastatic epitheloid trophoblastic tumor of the uterus treated with multimodal therapy including pembrolizumab and thermoablation. Case report of an extremely rare disease and review of the literature by M. Helbig, M. Steinmann, S. Jaschinski, M.J. Seckl, W. Meier, T. Fehm, A.K. Volkmer

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Sarcoidosis in children is an extremely rare disease. The artSarcoidosis in children: rare but possible.... by Alexandra Yu. Simonova, Igor E. Stepanyan, Liliia R. Selimzyanova, Olga V. Kustova, Anastasiia S. Polyakova, Rasul I. Abaykhanov

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Identifying a subpopulation with higher likelihoods of early response to treatment in a heterogeneous rare disease: a post hoc study of response to teduglutide for short bowel syndrome by Chen KS, Xie J, Tang W, Zhao J, Jeppesen PB, Signorovitch JE

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Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis by Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin

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Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease by Matteo Chinello, Margherita Mauro, Gaetano Cantalupo, Giacomo Talenti, Sara Mariotto, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Daniela Di Carlo, Federica Barzaghi, Simone Cesaro

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A pragmatic patient-reported outcome strategy for rare disease clinical trials: application of the EORTC item library to myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia by Jill A. Bell, Aaron Galaznik, Farrah Pompilus, Sara Strzok, Rafael Bejar, Fatima Scipione, Robert J. Fram, Douglas V. Faller, Stefan Cano, Patrick Marquis

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Selected Lectures of the Meeting "Rare diseases: diagnostic pathways and new therapies", including the session on the Life MILCH project and the session titled "They will be famous"; Cagliari (Italy); October 18, 2023 by -

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