Forde, Karina Resta, Nicoletta Ranieri, Carlotta Rea, David Kubassova, Olga Hinton, Mark Andrews, Katrina A. Semple, Robert Irvine, Alan D. Dvorakova, Veronika
...
Published in
Orphanet Journal of Rare Diseases
BackgroundPIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequently observed, and approved treatments are lacking. Miransertib (ARQ 092) is a novel, orally available, selective...
Garside, Bethanie Ho, Jan Hoong Kwok, See Liu, Yifen Dhage, Shaishav Donn, Rachelle Iqbal, Zohaib Jones, Simon A. Soran, Handrean
Published in
Orphanet Journal of Rare Diseases
BackgroundEnzyme replacement therapy (ERT) with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is being developed to treat patients with ASM deficiency (ASMD), commonly known as Niemann–Pick disease (NPD) types A or B. This study assessed the effect of ERT on lipid parameters and inflammatory markers.MethodsSerum and plasma samp...
Víšek, J. Bláha, M. Bláha, V. Lášticová, M. Lánska, M. Andrýs, C. Tebbens, J. Duintjer Igreja e Sá, Ivone Cristina Tripská, K. Vicen, M.
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Published in
Orphanet Journal of Rare Diseases
BackgroundLipoprotein apheresis (LA) is considered as an add-on therapy for patients with familial hypercholesterolemia (FH). We aimed to analyze the data collected in the last 15 years from FH patients treated with LA, to elucidate the benefit of this procedure with respect to plasma lipids, biomarkers of inflammation, and endothelial dysfunction ...
Blazsik, Reka Maria Beeler, Patrick Emanuel Tarcak, Karol Cheetham, Marcus von Wyl, Viktor Dressel, Holger
Published in
Orphanet Journal of Rare Diseases
BackgroundLittle is known about the impact of rare diseases on inpatient outcomes.ObjectiveTo compare outcomes of inpatients with 0, 1, or > 1 rare disease. A catalogue of 628 ICD-10 coded rare diseases was applied to count rare diseases.DesignRetrospective, cross-sectional study.Subjects165,908 inpatients, Swiss teaching hospital.Main measuresPrim...
Rodríguez-Rubio, Enrique Gil-Peña, Helena Chocron, Sara Madariaga, Leire de la Cerda-Ojeda, Francisco Fernández-Fernández, Marta de Lucas-Collantes, Carmen Gil, Marta Luis-Yanes, María Isabel Vergara, Inés
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Published in
Orphanet Journal of Rare Diseases
BackgroundX-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series...
Buendía-Martínez, Juan Barreda-Sánchez, María Rodríguez-Peña, Lidya Ballesta-Martínez, María Juliana López-González, Vanesa Sánchez-Soler, María José Serrano-Antón, Ana Teresa Pérez-Tomás, María Elena Gil-Ferrer, Remedios Avilés-Plaza, Francisco
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Published in
Orphanet Journal of Rare Diseases
BackgroundAcute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent attacks. Our aim was to investigate these aspects in sp...
Bonella, Francesco Campo, Ilaria Zorzetto, Michele Boerner, Eda Ohshimo, Shinichiro Theegarten, Dirk Taube, Christian Costabel, Ulrich
Published in
Orphanet Journal of Rare Diseases
BackgroundGenetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was conducted to investigate the association of MUC5B and TOLLIP SNPs with disease outcome in IPF. 62 IPF patients and 50 healthy controls (...
Meurs, Kathryn M. Williams, Brian G. DeProspero, Dylan Friedenberg, Steven G. Malarkey, David E. Ezzell, J. Ashley Keene, Bruce W. Adin, Darcy B. DeFrancesco, Teresa C. Tou, Sandra
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Published in
Orphanet Journal of Rare Diseases
BackgroundFamilial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated with the development of Alstrom syndrome, a multisystem familial disease that can include cardio...
Vela-Amieva, Marcela Alcántara-Ortigoza, Miguel Angel González-del Angel, Ariadna Belmont-Martínez, Leticia López-Candiani, Carlos Ibarra-González, Isabel
Published in
Orphanet Journal of Rare Diseases
BackgroundGlucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history. Herein, we describe the early natural clinical course and the underlying GDPD genotypes in infants wit...
Chaplin, Catriona
Published in
Orphanet Journal of Rare Diseases
This article describes my reflections of speaking with three patients and their families living with mastocytosis, who I was introduced to through the UK Mastocytosis Support Group. I discuss the various ways in which the condition affects their day-to-day lives and how this has changed during the Covid-19 pandemic. I have tried to give an insight ...
