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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/29422078/long-term-clinical-history-of-an-italian-cohort-of-infantile-onset-pompe-disease-treated-with-enzyme-replacement-therapy
#1
Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
BACKGROUND: Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. METHODS: A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD...
February 8, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29415745/cutaneous-neurofibromas-in-neurofibromatosis-type-i-a-quantitative-natural-history-study
#2
Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P Boyd, Amy Theos, David T Redden, Bruce Korf
BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions...
February 7, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29391032/adolescence-adult-onset-mthfr-deficiency-may-manifest-as-isolated-and-treatable-distinct-neuro-psychiatric-syndromes
#3
REVIEW
Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar
5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis.Here we report the cases of two adult siblings who experienced focal epilepsy at 18 years old as a first disease manifestation, without other symptom during several years. Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs...
February 1, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29391017/consensus-guidelines-for-newborn-screening-diagnosis-and-treatment-of-infantile-krabbe-disease
#4
REVIEW
Jennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H Gelb, David A Wenger, Can Ficicioglu, Amy T Waldman, Barbara K Burton, Patrick V Hopkins, Joseph J Orsini
BACKGROUND: Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptoms and are ineligible for transplantation. In 2006, New York began screening newborns for Krabbe disease to identify presymptomatic cases...
February 1, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29386040/characteristics-of-drugs-for-ultra-rare-diseases-versus-drugs-for-other-rare-diseases-in-hta-submissions-made-to-the-cadth-cdr
#5
REVIEW
Trevor Richter, Ghayath Janoudi, William Amegatse, Sandra Nester-Parr
BACKGROUND: It has been suggested that ultra-rare diseases should be recognized as distinct from more prevalent rare diseases, but how drugs developed to treat ultra-rare diseases (DURDs) might be distinguished from drugs for 'other' rare diseases (DORDs) is not clear. We compared the characteristics of DURDs to DORDs from a health technology assessment (HTA) perspective in submissions made to the CADTH Common Drug Review. We defined a DURD as a drug used to treat a disease with a prevalence ≤ 1 patient per 100,000 people, a DORD as a drug used to treat a disease with a prevalence > 1 and ≤ 50 patients per 100,000 people...
February 1, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29382371/common-drug-review-recommendations-for-orphan-drugs-in-canada-basis-of-recommendations-and-comparison-with-similar-reviews-in-quebec-australia-scotland-and-new-zealand
#6
John I McCormick, L Diana Berescu, Nabil Tadros
BACKGROUND: Public payer reimbursement for non-oncology drugs in Canada, including orphan drugs, is based on recommendations by the Common Drug Review (CDR) (with the exception of Quebec). CDR has been criticized for negative recommendations for orphan drugs and contributing to delays in patient access to these drugs. However, it is unclear how CDR makes recommendations for orphan drugs and the role clinical and economic factors play in decision making. The objective of the present study was to analyze the basis for CDR orphan drug recommendations and to compare recommendations to those in other jurisdictions...
January 30, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29382362/hypermanganesemia-due-to-mutations-in-slc39a14-further-insights-into-mn-deposition-in-the-central-nervous-system
#7
L Marti-Sanchez, J D Ortigoza-Escobar, A Darling, M Villaronga, H Baide, M Molero-Luis, M Batllori, M I Vanegas, J Muchart, L Aquino, R Artuch, A Macaya, M A Kurian, Pérez Dueñas
BACKGROUND: The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aimed to explore further biomarkers of Mn deposition in the central nervous system in two siblings presenting with acute dystonia and hypermanganesemia due to mutations in SLC39A14. These biomarkers may help clinicians to establish faster and accurate diagnosis and to monitor disease progression after chelation therapy is administered...
January 30, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29378663/early-diagnosis-of-tuberous-sclerosis-complex-a-race-against-time-how-to-make-the-diagnosis-before-seizures
#8
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29374495/long-term-substrate-reduction-therapy-with-ezetimibe-alone-or-associated-with-statins-in-three-adult-patients-with-lysosomal-acid-lipase-deficiency
#9
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased...
January 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29373990/targeted-next-generation-sequencing-analysis-in-couples-at-increased-risk-for-autosomal-recessive-disorders
#10
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
BACKGROUND: Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare but have recurrence risks of 25% in the same family. Often, affected children (or fetuses) die before a genetic diagnosis can be established, post-mortem analysis and phenotypic descriptions are insufficient and DNA from affected fetuses or children is not available for later analysis...
January 26, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29370874/international-practices-in-the-dietary-management-of-fructose-1-6-biphosphatase-deficiency
#11
A Pinto, M Alfadhel, R Akroyd, Y Atik Altınok, S M Bernabei, L Bernstein, G Bruni, G Caine, E Cameron, R Carruthers, B Cochrane, A Daly, F de Boer, S Delaunay, A Dianin, M Dixon, E Drogari, S Dubois, S Evans, J Gribben, G Gugelmo, C Heidenborg, I Hunjan, I L Kok, B Kumru, A Liguori, D Mayr, E Megdad, U Meyer, R B Oliveira, A Pal, A Pozzoli, R Pretese, J C Rocha, S Rosenbaum-Fabian, J Serrano-Nieto, E Sjoqvist, C Timmer, L White, T van den Hurk, M van Rijn, H Zweers, M Ziadlou, A MacDonald
BACKGROUND: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29370821/phenodis-a-comprehensive-database-for-phenotypic-characterization-of-rare-cardiac-diseases
#12
Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H-Werner Mewes, Matthias Arnold, Andreas Ruepp
BACKGROUND: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29370806/the-progression-rate-of-spinocerebellar-ataxia-type-2-changes-with-stage-of-disease
#13
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D Locks-Coelho, Amanda Senna P Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29357941/primary-hemophagocytic-lymphohistiocytosis-in-adults-the-utility-of-family-surveys-in-a-single-center-study-from-china
#14
Zhili Jin, Yini Wang, Jingshi Wang, Jia Zhang, Lin Wu, Zhuo Gao, Wenyuan Lai, Zhao Wang
BACKGROUND: This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT). METHODS: The study included clinical data of 18 adult patients with primary HLH treated in our center from June 2010 to January 2017. RESULTS: Of these 18 cases, pathogenic variants were found in the following genes: PRF1 (n = 11), UNC13D (n = 5), SH2D1A (n = 2), RAB27a (n = 1), and LYST (n = 2)...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29357934/the-importance-of-genotype-phenotype-correlation-in-the-clinical-management-of-marfan-syndrome
#15
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29357903/principles-for-interactions-with-biopharmaceutical-companies-the-development-of-guidelines-for-patient-advocacy-organizations-in-the-field-of-rare-diseases
#16
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R Kahn, Jane Larkindale, Toni Mathieson
BACKGROUND: Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization. Biopharmaceutical companies face complex challenges in developing treatments for rare diseases. Patient advocacy organizations may play a major role by positively influencing research and development, clinical trials, and regulations. Thus, collaboration among patient advocacy organizations and industry is essential to bring new therapeutics to patients...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29351763/an-overview-of-the-impact-of-rare-disease-characteristics-on-research-methodology
#17
REVIEW
Danielle Whicher, Sarah Philbin, Naomi Aronson
BACKGROUND: About 30 million individuals in the United States are living with a rare disease, which by definition have a prevalence of 200,000 or fewer cases in the United States ([National Organization for Rare Disorders], [About NORD], [2016]). Disease heterogeneity and geographic dispersion add to the difficulty of completing robust studies in small populations. Improving the ability to conduct research on rare diseases would have a significant impact on population health. The purpose of this paper is to raise awareness of methodological approaches that can address the challenges to conducting robust research on rare diseases...
January 19, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#18
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#19
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29321044/three-unreported-cases-of-tmem199-cdg-a-rare-genetic-liver-disease-with-abnormal-glycosylation
#20
Pietro Vajro, Katarzyna Zielinska, Bobby G Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D'Acunto, Hudson H Freeze, Erik A Eklund
BACKGROUND: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. RESULTS: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-14delTT (p.Ser4Serfs*30) and c.92G > C (p.Arg31Pro), despite only two were related (siblings)...
January 10, 2018: Orphanet Journal of Rare Diseases
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