O’Hara, Jamie Hirst, Ceri Cabre Marquez, Jose Francisco Burke, Tom
Published in
Orphanet Journal of Rare Diseases
BackgroundUntreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recombinant factor VIII (FVIII) product], real world evidence in children is lacking. This report describes a descriptive and multivaria...
Kwong, Anna Ka-Yee Tsang, Mandy Ho-Yin Fung, Jasmine Lee-Fong Mak, Christopher Chun-Yu Chan, Kate Lok-San Rodenburg, Richard J. T. Lek, Monkol Huang, Shushu Pajusalu, Sander Yau, Man-Mut
...
Published in
Orphanet Journal of Rare Diseases
BackgroundMovement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exo...
Savarirayan, Ravi Tunkel, David E. Sterni, Laura M. Bober, Michael B. Cho, Tae-Joon Goldberg, Michael J. Hoover-Fong, Julie Irving, Melita Kamps, Shawn E. Mackenzie, William G.
...
Published in
Orphanet Journal of Rare Diseases
BackgroundRecognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making.MethodsUsing the Delphi method, an international, multi-disciplinary group of individuals, with si...
Zöggeler, Thomas Stock, Katharina Jörg-Streller, Monika Spenger, Johannes Konstantopoulou, Vassiliki Hufgard-Leitner, Miriam Scholl-Bürgi, Sabine Karall, Daniela
Published in
Orphanet Journal of Rare Diseases
BackgroundLong-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a synthetic seven-carbon fatty acid triglyceride compound with an anaplerotic effect, seems beneficial, but clinical experience is lim...
Avanesov, Maxim Well, Lennart Laqmani, Azien Derlin, Thorsten Riccardi, Vincent M. Adam, Gerhard Mautner, Victor-Felix Salamon, Johannes
Published in
Orphanet Journal of Rare Diseases
BackgroundDiffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics of (NF1)-associated lung manifestations in a large single-center study using multidetector computed tomography (MDCT) and to evalua...
Selberherr, Andreas Freermann, Simon Koperek, Oskar Niederle, Martin B. Riss, Philipp Scheuba, Christian Niederle, Bruno
Published in
Orphanet Journal of Rare Diseases
BackgroundNeuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver metastasis is discussed controversially. The aim of this study is to evaluate and compare the overall long-term survival of patien...
Rommel, Felix Prangel, David Prasuhn, Michelle Grisanti, Salvatore Ranjbar, Mahdy
Published in
Orphanet Journal of Rare Diseases
PurposeTo investigate the correlation between retinal and choroidal microperfusion in patients with systemic sclerosis (SSc) using optical coherence tomography angiography (OCTA).MethodsIn this cross-sectional study SSc patients without clinical evidence of ocular involvement and healthy, age- and sex-matched volunteers were recruited. Participants...
Tingley, Kylie Coyle, Doug Graham, Ian D. Chakraborty, Pranesh Wilson, Kumanan Potter, Beth K.
Published in
Orphanet Journal of Rare Diseases
BackgroundFor many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to clinical research that may involv...
Vera-Llonch, Montserrat Reddy, Sheila R. Chang, Eunice Tarbox, Marian H. Pollock, Michael
Published in
Orphanet Journal of Rare Diseases
BackgroundDespite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading up to diagnosis may help to promote earlier intervention. The study’s objective was to examine patient clinical characteristics an...
Semeraro, Michela Sacchetti, Elisa Deodato, Federica Coşkun, Turgay Lay, Incilay Catesini, Giulio Olivieri, Giorgia Rizzo, Cristiano Boenzi, Sara Dionisi-Vici, Carlo
...
Published in
Orphanet Journal of Rare Diseases
BackgroundOligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new ...
