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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/28302183/reaching-multidisciplinary-consensus-on-classification-of-anaphylaxis-for-the-eleventh-revision-of-the-world-health-organization-s-who-international-classification-of-diseases-icd-11
#1
Luciana Kase Tanno, Robert J G Chalmers, Moises A Calderon, Ségolène Aymé, Pascal Demoly
BACKGROUND: Although currently misclassified in the International Classification of Diseases (ICD) and still not officially listed as a rare disease, anaphylaxis is a well-known clinical emergency. Anaphylaxis is now one of the principal headings in the "Allergic and hypersensitivity conditions" section recently compiled for the forthcoming 11(th) Revision of ICD (ICD-11). We here report the building process used for the pioneering "Anaphylaxis" subsection of ICD-11 in which we aimed for transparency as recommended in the ICD-11 revision guidelines...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28302171/clinical-characteristics-and-real-life-diagnostic-approaches-in-all-danish-children-with-hereditary-angioedema
#2
Anne Aabom, Klaus E Andersen, Christina Fagerberg, Niels Fisker, Marianne A Jakobsen, Anette Bygum
BACKGROUND: With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted early, which can be difficult. Studies of childhood HAE and the diagnostic approaches are limited. Our aim was to investigate the entire Danish cohort of children with HAE and non-HAE children of HAE patients for diagnostic approaches and clinical characteristics. RESULTS: We included 41 children: 22 with HAE and 19 non-HAE...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#3
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28302131/a-survey-of-resistance-to-colchicine-treatment-for-french-patients-with-familial-mediterranean-fever
#4
REVIEW
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
BACKGROUND: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS: We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#5
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28283046/recommendations-from-the-european-working-group-for-value-assessment-and-funding-processes-in-rare-diseases-orph-val
#6
Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings, Lugdivine Le Dez
Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development of OMPs. Despite this advancement, patients do not have universal access to these new medicines. There are many factors that affect OMP uptake, but one of the most important is the difficulty of making pricing and reimbursement (P&R) decisions in rare diseases. Until now, there has been little consensus on the most appropriate assessment criteria, perspective or appraisal process...
March 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28279226/the-ppar-pan-agonist-bezafibrate-ameliorates-cardiomyopathy-in-a-mouse-model-of-barth-syndrome
#7
Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K L Phoon, Jeanne F James, Alexander V Glukhov, Sabzali Javadov, Frédéric M Vaz, John L Jefferies, Arnold W Strauss, Zaza Khuchua
BACKGROUND: The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (TazKD), a mouse model of Barth syndrome that exhibits age-dependent dilated cardiomyopathy with left ventricular (LV) dysfunction. RESULTS: The effect of bezafibrate on cardiac function was evaluated by echocardiography in TazKD mice with or without beta-adrenergic stress...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28274235/multicenter-study-on-the-effectiveness-of-the-pre-epiglottic-baton-plate-for-airway-obstruction-and-feeding-problems-in-robin-sequence
#8
Christian F Poets, Christoph Maas, Wolfgang Buchenau, Joerg Arand, Anne Vierzig, Bert Braumann, Silvia Müller-Hagedorn
BACKGROUND: Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a prospective 3-center cohort study investigating this treatment. Based on an agreed protocol, parents of infants with Robin sequence referred to participating centers were offered enrollment, which involved taking a maxillary cast followed by endoscopy to fit the plate and sleep studies to monitor its effectiveness...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28274234/efficacy-safety-and-population-pharmacokinetics-of-sapropterin-in-pku-patients-4%C3%A2-years-results-from-the-spark-open-label-multicentre-randomized-phase-iiib-trial
#9
Ania C Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S Lotz-Havla, Alain Munafo, Diane R Mould, Flavie Moreau-Stucker, Daniela Rogoff
BACKGROUND: Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylketonuria. The aim of the SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) trial was to assess the efficacy (improvement in daily phenylalanine tolerance, neuromotor development and growth parameters), safety and pharmacokinetics of sapropterin dihydrochloride in children <4 years...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28274233/newborn-screening-for-tyrosinemia-type-1-using-succinylacetone-a-systematic-review-of-test-accuracy
#10
REVIEW
Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty regarding the test accuracy of the current method: succinylacetone measurement in dried blood spots using tandem mass spectrometry...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28264719/the-efficacy-of-the-modified-atkins-diet-in-north-sea-progressive-myoclonus-epilepsy-an-observational-prospective-open-label-study
#11
Martje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, Jan Willem J Elting, Jeannette M Gelauff, Rodi Zutt, Deborah A Sival, Roald A Lambrechts, Marina A J Tijssen, Oebele F Brouwer, Tom J de Koning
BACKGROUND: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures...
March 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28253932/does-the-low-prevalence-affect-the-sample-size-of-interventional-clinical-trials-of-rare-diseases-an-analysis-of-data-from-the-aggregate-analysis-of-clinicaltrials-gov
#12
Siew Wan Hee, Adrian Willis, Catrin Tudur Smith, Simon Day, Frank Miller, Jason Madan, Martin Posch, Sarah Zohar, Nigel Stallard
BACKGROUND: Clinical trials are typically designed using the classical frequentist framework to constrain type I and II error rates. Sample sizes required in such designs typically range from hundreds to thousands of patients which can be challenging for rare diseases. It has been shown that rare disease trials have smaller sample sizes than non-rare disease trials. Indeed some orphan drugs were approved by the European Medicines Agency based on studies with as few as 12 patients. However, some studies supporting marketing authorisation included several hundred patients...
March 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28241879/time-to-diagnosis-in-juvenile-idiopathic-arthritis-a-french-perspective
#13
Laura Aoust, Linda Rossi-Semerano, Isabelle Koné-Paut, Perrine Dusser
BACKGROUND: Juvenile idiopathic arthritis (JIA) is a rare disease that is not widely known by paediatricians and general practitioner (GP) leading to diagnostic error and delayed care provision. We aimed to analyse patient's journey and time to diagnosis of JIA (delay from the first symptom to the diagnosis of JIA). We performed a retrospective cohort study of 67 patients diagnosed with JIA and seen in the paediatric rheumatology department of the Kremlin Bicêtre Hospital, between July 2002 and January 2015...
February 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28241848/yellow-nail-syndrome-a-review
#14
REVIEW
Stéphane Vignes, Robert Baran
Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a triad associating yellow nail discoloration, pulmonary manifestations (chronic cough, bronchiectasia, pleural effusion) and lower limb lymphedema. Chronic sinusitis is frequently associated with the triad. YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome...
February 27, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28238288/-it-s-not-all-in-my-head-the-complex-relationship-between-rare-diseases-and-mental-health-problems
#15
LETTER
Rebecca Nunn
The incidence of mental health disorders is significantly higher in individuals with a rare disease, compared to the general population. This letter considers the possible reasons for this in terms of the many ways in which a rare disease impacts on an individual's life, and how these impacts can be strongly related to factors which predispose to mental health difficulties.Furthermore, issues surrounding mental health can also play a significant role in the process of diagnosing a rare disease. The unusual nature of such diseases intrinsically predisposes an individual to obtain an inaccurate diagnosis of a psychosomatic disorder, a diagnosis which can often be further complicated by the presence of genuine psychiatric symptoms...
February 27, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#16
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#17
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28219443/a-new-framework-for-evaluating-the-health-impacts-of-treatment-for-gaucher-disease-type-1
#18
Michael L Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb
BACKGROUND: The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences for those states (utilities) based on the DS3 to predict long-term outcomes of patients starting treatment. We defined nine mutually exclusive (alive) health states based on three DS3 categories: mild (0 ≤ DS3 ≤ 3.5) without symptoms of bone disease; mild with bone pain, mild with severe skeletal complications (SSC) defined as lytic lesions, avascular necrosis, or fracture; moderate (3...
February 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28219442/eplerenone-for-early-cardiomyopathy-in-duchenne-muscular-dystrophy-results-of-a-two-year-open-label-extension-trial
#19
Subha V Raman, Kan N Hor, Wojciech Mazur, Xin He, John T Kissel, Suzanne Smart, Beth McCarthy, Sharon L Roble, Linda H Cripe
BACKGROUND: Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to background medical therapy was cardioprotective in this population. The objective of this study was to evaluate the safety and efficacy of longer-term eplerenone therapy in boys with DMD. RESULTS: Eleven subjects (phase 1 baseline median [range] age: 13 [7 - 25] years) from the original 12-month trial at a single participating center were enrolled...
February 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28212684/the-renape-observational-registry-rationale-and-framework-of-the-rare-peritoneal-tumors-french-patient-registry
#20
L Villeneuve, G Passot, O Glehen, S Isaac, F Bibeau, P Rousset, F N Gilly
BACKGROUND: Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays and misdiagnosis. And patients are not systematically referred to expert centers as they should be. Clinicians and researchers also face unique challenges with these rare cancers, because it is hard to conduct adequately powered, controlled trials in such small patient population...
February 17, 2017: Orphanet Journal of Rare Diseases
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