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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/29769092/mineralization-of-alpha-1-antitrypsin-inclusion-bodies-in-mmalton-alpha-1-antitrypsin-deficiency
#1
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. Therefore, molecular analysis is mandatory for their characterization. In particular, that holds true for the Mmalton variant as on IEF profile it resembles the wild M2 subtype. METHODS: This is a retrospective analysis involving review of medical records and of liver biopsy specimens from a series of Mmalton, Z and Siiyama Alpha-1-antitrypsin deficiency patients...
May 16, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29764481/a-total-pleural-covering-of-absorbable-cellulose-mesh-prevents-pneumothorax-recurrence-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#2
Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. TPC successfully prevented the recurrence of pneumothorax in LAM patients...
May 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29751845/beneath-the-floor-re-analysis-of-neurodevelopmental-outcomes-in-untreated-hurler-syndrome
#3
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart
BACKGROUND: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal...
May 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29751809/lessons-learned-from-ideal-33-recommendations-from-the-ideal-net-about-design-and-analysis-of-small-population-clinical-trials
#4
REVIEW
Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz König, Christoph Male, France Mentré, Geert Molenberghs, Stephen Senn
BACKGROUND: IDeAl (Integrated designs and analysis of small population clinical trials) is an EU funded project developing new statistical design and analysis methodologies for clinical trials in small population groups. Here we provide an overview of IDeAl findings and give recommendations to applied researchers. METHOD: The description of the findings is broken down by the nine scientific IDeAl work packages and summarizes results from the project's more than 60 publications to date in peer reviewed journals...
May 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29747658/naxos-disease-from-the-origin-to-today
#5
REVIEW
Guo-Liang Li, Ardan M Saguner, Guy H Fontaine
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition with a recessive form of transmission and a familial penetrance of 90%. It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consistent with ARVD, but in a more severe form of dysplasia with major dilatation of the right ventricle...
May 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29747656/maternal-drug-use-and-the-risk-of-anorectal-malformations-systematic-review-and-meta-analysis
#6
REVIEW
Nadine Zwink, Ekkehart Jenetzky
BACKGROUND: Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically. METHODS: Studies published between 1977 and April 2017 were reviewed through systematic search in PubMed, ISI Web of Knowledge and Scopus databases. Furthermore, related and cross-referencing publications were reviewed...
May 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29728119/epidemiology-of-bradykinin-mediated-angioedema-a-systematic-investigation-of-epidemiological-studies
#7
Emel Aygören-Pürsün, Markus Magerl, Andreas Maetzel, Marcus Maurer
BACKGROUND: Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. METHODS: We systematically searched the medical literature to identify abstracts of interest indexed between 1948 and March, 2016. We used published national survey data on the proportion of the population treated with angiotensin-converting enzyme inhibitors (ACEI) to derive estimates of the population prevalence of ACEI-AE in the USA, Germany and France...
May 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29720219/gne-myopathy-from-clinics-and-genetics-to-pathology-and-research-strategies
#8
REVIEW
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to bringing forward an era of GNE myopathy treatment...
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29720212/individualized-approach-to-the-surgical-management-of-fibrous-dysplasia-of-the-proximal-femur
#9
Bas C J Majoor, Andreas Leithner, Michiel A J van de Sande, Natasha M Appelman-Dijkstra, Neveen A T Hamdy, P D Sander Dijkstra
BACKGROUND: Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of surgical approach and no general guidelines for the optimal orthopedic management of these lesions. The objective of this study was to evaluate treatment outcomes of angled blade plates and intramedullary nails, using as outcome indicators revision-free survival, pain, function and femoral neck-shaft-angle...
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29720203/detection-rate-of-causal-variants-in-severe-childhood-epilepsy-is-highest-in-patients-with-seizure-onset-within-the-first-four-weeks-of-life
#10
David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
BACKGROUND: Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females). RESULTS: In our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61...
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29716638/liver-transplantation-for-very-severe-hepatopulmonary-syndrome-due-to-vitamin-a-induced-chronic-liver-disease-in-a-patient-with-shwachman-diamond-syndrome
#11
LETTER
Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts
Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver transplantation with complete resolution of the pulmonary shunting.
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29703262/migalastat-improves-diarrhea-in-patients-with-fabry-disease-clinical-biomarker-correlations-from-the-phase-3-facets-trial
#12
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, Derralynn A Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P Shankar, Laura Barisoni, Robert B Colvin, J Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P Castelli, Nina Skuban, Jay A Barth, Kathleen Nicholls
BACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. METHODS: We evaluated minimal clinically important differences (MCID) in diarrhea based on the corresponding domain of the patient-reported Gastrointestinal Symptom Rating Scale (GSRS) in patients with Fabry disease and amenable mutations (N = 50) treated with migalastat 150 mg every other day or placebo during the phase 3 FACETS trial (NCT00925301)...
April 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29703227/revealed-preferences-towards-the-appraisal-of-orphan-drugs-in-poland-multi-criteria-decision-analysis
#13
Katarzyna Kolasa, Krzysztof Miroslaw Zwolinski, Vladimir Zah, Zoltán Kaló, Tadeusz Lewandowski
BACKGROUND: A Multi Criteria Decision Analysis (MCDA) technique was adopted to reveal the preferences of the Appraisal Body of the Polish HTA agency towards orphan drugs (OMPs). RESULTS: There were 34 positive and 23 negative HTA recommendations out of 54 distinctive drug-indication pairs. The MCDA matrix consisted of 13 criteria, seven of which made the most impact on the HTA process. Appraisal of clinical evidence, cost of therapy, and safety considerations were the main contributors to the HTA guidance, whilst advancement of technology and manufacturing costs made the least impact...
April 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29703220/european-principles-of-inhibitor-management-in-patients-with-haemophilia
#14
P L F Giangrande, C Hermans, B O'Mahony, P de Kleijn, M Bedford, A Batorova, J Blatný, K Jansone
BACKGROUND: In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe. METHODS: Following a series of multidisciplinary meetings and a review of the literature, the European haemophilia community of health professionals and patients jointly defined practical optimum standards for ensuring and harmonizing treatment and care for patients with an inhibitor...
April 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29690908/adenosine-deaminase-deficiency-a-review
#15
REVIEW
Aisling M Flinn, Andrew R Gennery
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usually with persistent infection, or with pulmonary insufficiency...
April 24, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29688860/patient-reported-outcome-measures-in-rare-diseases-a-narrative-review
#16
REVIEW
Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin, Melanie Calvert
BACKGROUND: Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are used to capture the patient's views about their health status and facilitate our understanding of the impact of these diseases and their treatments on patient's quality of life and symptoms...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29688857/less-invasive-treatment-of-sleep-disordered-breathing-in-children-with-syndromic-craniosynostosis
#17
Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert, Christian F Poets
BACKGROUND: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29685181/serial-mris-provide-novel-insight-into-natural-history-of-optic-pathway-gliomas-in-patients-with-neurofibromatosis-1
#18
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K S Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M Friedman
BACKGROUND: Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adults with NF1. RESULTS: We analyzed the features of OPGs and other intracranial lesions on 1775 head MRI scans of 562 unselected adults and children with NF1 collected between 2003 and 2015. 52 (9.3%) of 562 patients in this study had an OPG diagnosed on their MRI...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29685165/gastro-oesophageal-reflux-an-important-causative-factor-of-severe-tooth-wear-in-prader-willi-syndrome
#19
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
BACKGROUND: Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29678139/pulmonary-hemosiderosis-in-children-with-down-syndrome-a-national-experience
#20
Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier, Marie-Catherine Renoux, Jacques de Blic, Sophie Leyronnas, Guillaume Thouvenin, Caroline Perisson, Aimé Ravel, Annick Clement, Harriet Corvol, Nadia Nathan
BACKGROUND: Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS. METHODS: Patients younger than 20 years old and followed for pulmonary hemosiderosis were retrieved from the RespiRare® database...
April 20, 2018: Orphanet Journal of Rare Diseases
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