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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/28821278/social-economic-costs-and-health-related-quality-of-life-in-patients-with-spinal-muscular-atrophy-sma-in-spain
#1
Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton, Juan Oliva-Moreno
BACKGROUND: The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain. METHODS: This was a cross-sectional and retrospective study of patients diagnosed with SMA in Spain. We adopted a bottom up, prevalence approach design to study patients with SMA. The patient's caregivers completed an anonymous questionnaire regarding their socio-demographic characteristics, use of healthcare services and non-healthcare services...
August 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28814322/critical-appraisal-of-arguments-for-the-delayed-start-design-proposed-as-alternative-to-the-parallel-group-randomized-clinical-trial-design-in-the-field-of-rare-disease
#2
Loukia M Spineli, Eva Jenz, Anika Großhennig, Armin Koch
BACKGROUND: A number of papers have proposed or evaluated the delayed-start design as an alternative to the standard two-arm parallel group randomized clinical trial (RCT) design in the field of rare disease. However the discussion is felt to lack a sufficient degree of consideration devoted to the true virtues of the delayed start design and the implications either in terms of required sample-size, overall information, or interpretation of the estimate in the context of small populations...
August 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28814319/constipation-in-adults-with-neurofibromatosis-type-1
#3
Cecilie Ejerskov, Klaus Krogh, John R Ostergaard, Janne L Fassov, Annette Haagerup
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls...
August 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28793912/re-evaluation-of-hypoplastic-left-heart-syndrome-from-a-developmental-and-morphological-perspective
#4
A Crucean, A Alqahtani, D J Barron, W J Brawn, R V Richardson, J O'Sullivan, R H Anderson, D J Henderson, B Chaudhry
BACKGROUND: Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studies, the causes of HLHS remain unclear and there are conflicting views regarding the role of flow, valvar or myocardial abnormalities in its pathogenesis, all of which were proposed prior to the description of the second heart field. Our aim was to re-evaluate the patterns of malformation in HLHS in relation to recognised cardiac progenitor populations, with a view to providing aetiologically useful sub-groupings for genomic studies...
August 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28784158/european-reference-networks-for-rare-diseases-what-is-the-conceptual-framework
#5
REVIEW
Véronique Héon-Klin
With the Cross-Border Healthcare Directive (2011/24/EU) a mandatory framework was established to foster cooperation on a voluntary basis, within European Reference Networks (ERNs). These networks are composed of centres and healthcare providers. The exchange of knowledge is a central issue in this context. A detailed literature survey was carried out to determine the most important factors affecting information and knowledge exchange, as well as learning, in networks and how this can be supported. New communication technologies are identified as key tools for the European Reference Networks (ERN)...
August 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28778179/is-age-a-risk-factor-for-liver-disease-and-metabolic-alterations-in-ataxia-telangiectasia-patients
#6
Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T Costa-Carvalho, Roseli O S Sarni
BACKGROUND: Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. We aimed to assess IR; liver involvement; carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age. RESULTS: Glucose metabolism alterations were found in 54...
August 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28764801/hemodialysis-in-mngie-transiently-reduces-serum-and-urine-levels-of-thymidine-and-deoxyuridine-but-not-csf-levels-and-neurological-function
#7
LETTER
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J Blom, Matthis Synofzik
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointestinal dysmotility. Hemodialysis (HMD) has been suggested as a treatment to reduce accumulation of thymidine and deoxyuridine. However, all studies so far have failed to measure the toxic metabolites in cerebrospinal fluid (CSF), which is the crucial compartment for CNS damage...
August 1, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28764722/a-web-based-patient-driven-registry-for-angelman-syndrome-the-global-angelman-syndrome-registry
#8
LETTER
Kathryn R Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A Hunter, Meagan Cross, Matthew I Bellgard
Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries...
August 1, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28743279/childhood-interstitial-lung-diseases-in-immunocompetent-children-in-australia-and-new-zealand-a-decade-s-experience
#9
Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski, Adam Jaffé
BACKGROUND: Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case series with an aim to standardising approaches to diagnosis and management. Australasian data are lacking. The aim of this study was to calculate prevalence and report the experience of chILD in Australasia over a decade. METHODS: Paediatric pulmonologists in Australia and New Zealand involved in the care of patients aged 0-18 years with chILD completed a questionnaire on demographics, clinical features and outcomes, over a 10 year period...
July 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#10
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28720148/multifocal-gastric-adenocarcinoma-in-a-patient-with-lrba-deficiency
#11
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
BACKGROUND: Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies. METHODS: Family-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder...
July 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28716038/an-update-on-the-use-of-biologic-therapies-in-the-management-of-uveitis-in-beh%C3%A3-et-s-disease-a-comprehensive-review
#12
REVIEW
Thomas W McNally, Erika M Damato, Philip I Murray, Alastair K Denniston, Robert J Barry
ᅟ: Behçet's disease (BD) is a systemic vasculitis characterised by a relapsing remitting course, affecting multiple organ systems. In the eye, it is a cause of potentially blinding inflammation in the form of uveitis. Management of uveitis in BD often requires the use of systemic immunosuppression, in order to reduce disease activity and prevent accumulation of irreversible damage. Whilst corticosteroids remain the mainstay of treatment, long-term use is limited by the development of adrenocorticotrophic side effects...
July 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28709429/efficacy-of-rituximab-in-non-paraneoplastic-autoimmune-retinopathy
#13
Katherine Boudreault, Sally Justus, Jesse D Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral, Stephen H Tsang
BACKGROUND: Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiological responses of the retina associated with positive anti-retinal antibodies. AIR is also challenging to treat, and thus, the introduction of new potential therapeutic agents is welcomed. The goal of this communication is to assess the effects of rituximab infusions on electroretinogram (ERG) responses and visual function outcomes in patients with non-paraneoplastic autoimmune retinopathy (npAIR)...
July 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28709457/tubulointerstitial-nephritis-and-uveitis-tinu-syndrome-a-systematic-review-of-its-epidemiology-demographics-and-risk-factors
#14
REVIEW
Linda O Okafor, Peter Hewins, Philip I Murray, Alastair K Denniston
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare oculorenal inflammatory condition that was first described in 1975. In 2001 a major review identified 133 cases in the world literature and proposed key diagnostic criteria for the condition. Although acknowledged as rare, the limited data available prevented reliable estimates of the prevalence of the condition, and hampered elucidation of the relationship between genetic and environmental factors that contribute to its pathogenesis.In this review we have performed a systematic search on the epidemiology, demographics and proposed risk factors for TINU...
July 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28701211/inpatient-rehabilitation-for-adult-patients-with-marfan-syndrome-an-observational-pilot-study
#15
Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler, Eike Hoberg
BACKGROUND: Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac defects requires medical rehabilitation. Patients with Marfan syndrome (MFS) are a relevant group among these patients. So far, no reports on the effectiveness of specialized rehabilitation programmes for MFS patients exist. We implemented an inpatient 3-week rehabilitation program for MFS patients at the Muehlenberg-Clinic for rehabilitation and assessed the medical safety as well as the impact of the program on physical fitness and psychological wellbeing of participants by means of an observational pilot study...
July 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28679388/atm-splicing-variants-as-biomarkers-for-low-dose-dexamethasone-treatment-of-a-t
#16
Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D'Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani
BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood. Recently, we have demonstrated that Dexamethasone treatment may partly restore ATM activity in AT lymphoblastoid cells by a new ATM transcript, namely ATMdexa1...
July 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28676128/phenotype-prediction-for-mucopolysaccharidosis-type-i-by-in-silico-analysis
#17
Li Ou, Michael J Przybilla, Chester B Whitley
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which requires early diagnosis and phenotype severity prediction. RESULTS: To establish a genotype/phenotype correlation of MPS I disease, a combination of bioinformatics tools including SIFT, PolyPhen, I-Mutant, PROVEAN, PANTHER, SNPs&GO and PHD-SNP are utilized...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28676062/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy-a-literature-review
#18
REVIEW
Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28666455/prevalence-of-fibrodysplasia-ossificans-progressiva-fop-in-france-an-estimate-based-on-a-record-linkage-of-two-national-databases
#19
Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France by probabilistic record-linkage of 2 national databases: 1) the PMSI (Programme de médicalisation des systèmes d'information), an administrative database that records all hospitalization activities in France and 2) CEMARA, a registry database developed by the French Centres of Reference for Rare Diseases...
June 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28662711/repurposing-propranolol-as-a-drug-for-the-treatment-of-retinal-haemangioblastomas-in-von-hippel-lindau-disease
#20
Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de Las Heras, Luisa María Botella
BACKGROUND: Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (CNS) and retina, renal carcinoma and pheochromocytomas are the most common tumours. The absence of treatment for VHL leads to the need of repeated surgeries as the only option for these patients. Targeting VHL-derived tumours with drugs with reduced side effects is urgent to avoid repeated CNS surgeries...
June 29, 2017: Orphanet Journal of Rare Diseases
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