Results 91 to 100 of about 13,095,395 (361)

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Erdheim-Chester Disease [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2016
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with
Matzumura, Melissa, Arias-Stella, Javier, Novak, James E.   +2 more
openaire   +2 more sources

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Orphanet Journal of Rare Diseases
Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases.
C. M. Wang, A. Whiting, A. Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, A. Hamosh, Y. le Cam, Helen L Malherbe, C. Molster, Lucia Monaco, Carmencita D. Padilla, Anne Pariser, Peter N. Robinson, C. Rodwell, Franz Schaefer, Stefanie Weber, F. Macchia   +18 more
semanticscholar   +1 more source

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Orphanet Journal of Rare Diseases, 2021
Background During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one.
D. Walkowiak, J. Domaradzki
semanticscholar   +1 more source

Computer Vision in Medical Imaging and its Impact on the Rare Musculoskeletal Diseases [PDF]

, 2023
There are over 6000 rare diseases in the world, affecting more than 300 million people. Early and precise diagnosis of rare diseases has always been the goal in clinical medicine.
LI Qing, SUN Bo, CHEN Guilin, ZHANG Xueyi, HU Ge, QIU Guixing   +5 more
core   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Scientific Reports, 2018
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights ...
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Andy G. Lynch   +3 more
doaj   +1 more source

IntroducingRare Diseases [PDF]

Rare Diseases, 2013
We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Szajner, Patricia, Yusufzai, Timur
openaire   +2 more sources

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

Orphanet Journal of Rare Diseases, 2022
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in ...
Aimé Lumaka, N. Carstens, K. Devriendt, A. Krause, B. Kulohoma, Judit Kumuthini, G. Mubungu, John Mukisa, M. Nel, T. Olanrewaju, Z. Lombard, G. Landouré   +11 more
semanticscholar   +1 more source

Prevalence of 21 Physician‐Defined Severe Toxicities Following Childhood Acute Lymphoblastic Leukemia Treatment: Australian Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier, Brittany Grantham, Camilla Grud Nielsen, Louise Lundgren, Liv Andrés‐Jensen, Kjeld Schmiegelow, Chris Selman, Gareth Ball, Elyse Passmore, David A. Elliott, Rachel Conyers   +10 more
wiley   +1 more source