Results 61 to 70 of about 4,553,133 (313)

The Challenge of Rare Diseases [PDF]

Chest, 2018
Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults.
openaire   +2 more sources

Ewing Sarcoma in Infants and Children Under 2 Years of Age: A French Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ewing sarcoma, the second most common primary bone cancer in children, requires intensive treatment that may lead to significant long‐term sequelae, particularly in infants. We retrospectively analyzed data from 1621 French patients treated between 1988 and 2015 within the EW88/93/97 or EE99 trials, focusing on 17 infants diagnosed before 24 ...
Elodie Verdier, Nathalie Cozic, Marie‐Dominique Tabone, Gaelle Pierron, Perrine Marec‐Berard, Sarah Winter, Gabriel Revon‐Rivière, Cyril Lervat, Dominique Plantaz, Marie‐Pierre Castex, Gregory Guimard, Estelle Thebaud, Stephanie Proust, Laure Saumet, Natacha Entz‐Werle, Sophie Taque, Cécile Vérité, Marta Jimenez, Nathalie Gaspar   +18 more
wiley   +1 more source

An Easy Guide to Rare Diseases in Ireland: A Resource for the Media and the General Public

, 2020
This ‘Easy Guide’ has been produced to increase awareness about the challenges of living with a rare disease and to highlight the priorities that need to be included in the forthcoming National Plan for Rare Diseases (NPRD) in Ireland. The aims of this
Task Force on Rare Diseases
core  

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015 [PDF]

, 2019
BACKGROUND: The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the ...
김지현, 김영광, 윤진하
core   +1 more source

Collecting rare diseases [PDF]

F1000Research, 2014
This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
openaire   +2 more sources

Safety and Effectiveness of a High‐Dose, Tailored Tissue Plasminogen Activator Therapy Protocol: A Joint Pediatric Hematology and Cardiac ICU Quality Improvement Initiative Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric thromboembolism is increasingly encountered in critical care. Systemic thrombolysis with tissue plasminogen activator (tPA) facilitates vessel or valve patency, yet pediatric‐specific protocols remain undefined, and safety concerns persist. Objective To evaluate the efficacy and safety of a tailored, prolonged systemic tPA
Eran Shostak, Oded Gilad, Yael Feinstein, Sigal Nakav, Ofer Schiller, Joanne Yacobovich   +5 more
wiley   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
doaj   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source