Results 41 to 50 of about 4,553,133 (313)

Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) [PDF]

, 2022
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD).
Oliveira, Bibiana Mello de, Carvalho, Isabelle, Alves, Domingos Savio do Nascimento, Faccini, Lavinia Schuler, Bernardi, Filipe Andrade, Schwartz, Ida Vanessa Doederlein, Acosta, Angelina Xavier, Ferraz, Victor Evangelista de Faria, Giugliani, Roberto, Artifon, Milena, Sorte, Ney Boa, Sanseverino, Maria Teresa Vieira, Felix, Temis Maria, RARAS Network Group, Saute, Jonas Alex Morales   +14 more
core   +1 more source

Expert Guidelines for the Diagnosis, Treatment, and Management of Mycosis Fungoides in China

罕见病研究, 2023
Mycosis fungoides (MF) is a cutaneous lymphoma originating from memory helper T cells. The lesion caused by classical type of MF is characterized by the progression from patches at early stages, advancing to more infiltrated plaques and eventually to ...
Rare Skin Disease Committee of China Alliance for Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Dermatology Branch of China International Exchange and Promotion Association for Medical and Health Care   +2 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu   +9 more
openaire   +2 more sources

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

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG) : a feasibility study [PDF]

, 2020
Introduction: In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate diagnosis and treatment for the
Gascon, Joaquim, Bisoffi, Zeno, Bisoffi, Z., Gascon, J., Plasència, A., Universitat Autònoma de Barcelona, Plasència, A.., Requena-Méndez, A., Requena-Méndez, Ana, Vives Corrons, Juan Luís   +9 more
core   +1 more source

National programme for rare diseases 2019–2023

, 2020
It is estimated that six out of one hundred Finns have a rare disease, injury, syndrome or malformation. It can sometimes be challenging and time-consuming to identify them.

core   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +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