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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/30241551/efficacy-of-sirolimus-for-the-prevention-of-recurrent-pneumothorax-in-patients-with-lymphangioleiomyomatosis-a-case-series
#1
LETTER
Li Zhou, Ruoyun Ouyang, Hong Luo, Siying Ren, Ping Chen, Yating Peng, Ting Liu, Guiqian Liu
Pneumothorax is one of the most common symptoms in patients with lymphangioleiomyomatosis (LAM). However, current management strategies for patients with LAM who present with recurrent pneumothorax remain inadequate. Here, we describe the successful prevention of recurrent pneumothorax by sirolimus treatment in five women with LAM. Before sirolimus treatment, all patients had received supplemental oxygen support, repeated chest tube drainage, or surgeries for management of the recurrent pneumothorax. Sirolimus treatment was initiated when the pneumothorax was completely resolved, and no patient developed pneumothorax during treatment...
September 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30241550/high-hepatic-macrophage-activation-and-low-liver-function-in-stable-wilson-patients-a-danish-cross-sectional-study
#2
Jessica Björklund, Tea Lund Laursen, Thomas Damgaard Sandahl, Holger Jon Møller, Hendrik Vilstrup, Peter Ott, Henning Grønbæk
BACKGROUND: Hepatic macrophage (Kupffer cell) hyperplasia is often described in Wilson's disease (WD). In many liver diseases, Kupffer cell activation is related to disease severity, liver function, and fibrosis but the importance in WD is unknown. Kupffer cell activation can be assessed by the P-concentration of soluble (s)CD163, metabolic liver function by the galactose elimination capacity (GEC), and fibrosis by Fibroscan. We investigated the associations between sCD163, selected inflammatory cytokines, GEC, and liver fibrosis in Danish WD patients...
September 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30236129/molecular-and-cellular-characterizations-of-human-cherubism-disease-aggressiveness-depends-on-osteoclast-differentiation
#3
Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L'Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E Coudert
BACKGROUND: Cherubism is a rare autosomal dominant disorder of the jaws caused by mutation of the SH3BP2 gene. The bone is replaced by a fibrous granuloma containing multinucleated giant cells. Cells of the cherubism granuloma have never been systematically analyzed. Hence, the aim of this study was to characterize the cells in human cherubism granulomas, to determine the osteoclastic characteristics of the multinucleated giant cells and to investigate the potential role of TNF-α in human cherubism...
September 20, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30231941/fertility-in-classical-galactosaemia-a-study-of-n-glycan-hormonal-and-inflammatory-gene-interactions
#4
Hugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O'Flaherty, C Catherine Moss, P Peter Barker, Maria Fitzgibbon, Peter P Doran, Eileen P Treacy
BACKGROUND: Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist in treated patients despite dietary galactose restriction with significant variations in outcomes suggesting epigenetic glycosylation influences. Primary Ovarian Insufficiency (POI) is a very significant complication affecting females with follicular depletion noted in early life...
September 19, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30231904/from-motor-performance-to-participation-a-quantitative-descriptive-study-in-adults-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#5
Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study aimed to describe the clinical phenotype including dexterity, coordination, strength, mobility, balance, disease severity, participation, and quality of life observed in adults with ARSACS homozygous for the c.8844delT mutation. METHODS: Cross-sectional study with comparisons between disease stages and with reference values...
September 19, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30227882/burden-of-albinism-development-and-validation-of-a-burden-assessment-tool
#6
Fanny Morice-Picard, Charles Taïeb, Aurelie Marti, Antoine Gliksohn, Mohammed Bennani, Christine Bodemer, Khaled Ezzedine
BACKGROUND: Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the burden experienced by individuals who present with albinism, although such a tool is needed and would be beneficial for clinicians and patients alike. METHOD: The questionnaire was devised using standardized methodology for developing and validating questionnaires on the quality of life of subjects according to the following chronological structure: conceptual phase, development phase, and then validation phase...
September 18, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30227880/systemic-retinoids-for-treatment-of-recalcitrant-iga-pemphigus
#7
LETTER
Franziska Schauer, Johannes Steffen Kern, Dimitra Kiritsi
IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is often recalcitrant to oral steroids and immunosuppressants. Here, we describe the use of systemic retinoids for the treatment of recalcitrant IgA pemphigus in 3 cases. Although the use of acitretin has been reported before, we present for the first time the positive effects of alitretinoin in treatment of 2 patients with IgA pemphigus...
September 18, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30223862/description-of-22-new-alpha-1-antitrypsin-genetic-variants
#8
LETTER
Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises serum alpha-1 antitrypsin quantification, phenotyping according to the isoelectric focusing pattern and genotyping if necessary. To date, more than 100 SERPINA1 variants have been described and new genetic variants are frequently discovered...
September 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30220252/neural-stem-cells-for-disease-modeling-and-evaluation-of-therapeutics-for-tay-sachs-disease
#9
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J Espejo-Mojica, Alexander Rodríguez-López, Carlos J Alméciga-Díaz, Luis A Barrera, Xuntian Jiang, Daniel S Ory, Juan J Marugan, Wei Zheng
BACKGROUND: Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. RESULTS: We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs)...
September 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30208915/a-continuous-repetitive-task-to-detect-fatigability-in-spinal-muscular-atrophy
#10
Marloes Stam, Renske I Wadman, Bart Bartels, Maureen Leeuw, Henk-Jan Westeneng, Camiel A Wijngaarde, Leonard H van den Berg, W Ludo van der Pol
BACKGROUND: To determine the value of a continuous repetitive task to detect and quantify fatigability as additional dimension of impaired motor function in patients with hereditary proximal spinal muscular atrophy (SMA). RESULTS: In this repeated measure case-control study 52 patients with SMA types 2-4, 17 healthy and 29 disease controls performed five consecutive rounds of the Nine-Hole Peg test to determine the presence of fatigability. We analysed differences in test performance and associations with disease characteristics...
September 12, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30201051/tsc-associated-neuropsychiatric-disorders-tand-findings-from-the-tosca-natural-history-study
#11
Petrus J de Vries, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B d'Augères, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J Chris Kingswood, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and explore genotype-TAND correlations. RESULTS: The study enrolled 2216 eligible participants with TSC from 170 sites across 31 countries at the data cut-off for the third interim analysis (data cut-off date: September 30, 2015)...
September 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30201006/consensus-statement-on-physical-rehabilitation-in-children-and-adolescents-with-osteogenesis-imperfecta
#12
Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler
On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis imperfecta. The experts were chosen based on their clinical experience with children with osteogenesis imperfecta and were identified by sending out questionnaires to specialized centers and patient organizations in 26 different countries. The final expert-group included 16 representatives (12 physiotherapists, two occupational therapists and two medical doctors) from 14 countries...
September 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30201003/a-health-state-utility-valuation-study-to-assess-the-impact-of-treatment-mode-of-administration-in-gaucher-disease
#13
Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed, Atul Mehta
BACKGROUND: This study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition. METHODS: A review of relevant literature and expert clinical input informed the development of five health states characterising the impact of Gaucher disease and its management on patients' lives. A base-state characterising the "controlled disease" was developed as well as four subsequent health states which varied in description of the method (intravenous versus oral) and frequency of treatment administration...
September 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30189864/the-patient-journey-to-diagnosis-and-treatment-of-autoinflammatory-diseases
#14
Jonathan S Hausmann, Kathleen G Lomax, Ari Shapiro, Karen Durrant
BACKGROUND: Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). METHODS: Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families...
September 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30185236/eight-years-after-an-international-workshop-on-myotonic-dystrophy-patient-registries-case-study-of-a-global-collaboration-for-a-rare-disease
#15
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha El Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
BACKGROUND: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy...
September 5, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30185208/rare-disease-registries-potential-applications-towards-impact-on-development-of-new-drug-treatments
#16
Marijke C Jansen-van der Weide, Charlotte M W Gaasterland, Kit C B Roes, Caridad Pontes, Roser Vives, Arantxa Sancho, Stavros Nikolakopoulos, Eric Vermeulen, Johanna H van der Lee
BACKGROUND: Low prevalence, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of drugs for rare diseases. Rare disease registries (RDRs) can be helpful by playing a role in understanding the course of the disease, and providing information necessary for clinical trial design, if designed and maintained properly. We describe the potential applications of a RDR and what type of information should be incorporated to support the design of clinical trials in the process of drug development, based on a broad inventory of registry experience...
September 5, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30180870/meta-analysis-of-the-clinical-and-immunopathological-characteristics-and-treatment-outcomes-in-epidermolysis-bullosa-acquisita-patients
#17
Hiroaki Iwata, Artem Vorobyev, Hiroshi Koga, Andreas Recke, Detlef Zillikens, Catherine Prost-Squarcioni, Norito Ishii, Takashi Hashimoto, Ralf J Ludwig
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap, we collected this information from EBA cases, meeting current diagnostic criteria, published between 1971 and 2016. RESULTS: We identified 1159 EBA cases...
September 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30176883/manual-and-educational-therapy-in-the-treatment-of-hemophilic-arthropathy-of-the-elbow-a-randomized-pilot-study
#18
Rubén Cuesta-Barriuso, Antonia Gómez-Conesa, José-Antonio López-Pina
BACKGROUND: Elbow arthropathy is characteristic in patients with hemophilia. Arthropathy is manifested by decreased range of motion, pain, loss of strength and muscular atrophy, and axial changes. The objective is to evaluate the safety of two physiotherapy programs combining manual therapy and home exercises with educational sessions in patients with hemophilic elbow arthropathy. METHODS: This is a randomized study with 27 patients with elbow hemophilic arthropathy with a mean age of 34...
September 3, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30165883/a-systematic-review-of-cognitive-functioning-in-early-treated-adults-with-phenylketonuria
#19
REVIEW
Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson, Louise Dye
BACKGROUND: Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the result of elevated levels of phenylalanine throughout life. Research on cognitive functioning in adults with PKU (AwPKU) often focuses on domains shown to be compromised in children with PKU, such as attention and executive functions, whereas other cognitive domains have received less attention...
August 30, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30157945/can-untreated-pku-patients-escape-from-intellectual-disability-a-systematic-review
#20
REVIEW
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L Hertecant, Carla E M Hollak, Jens V Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K Trefz, Natalia Usurelu, Callum Wilson, Clara D van Karnebeek, William B Hanley, Francjan J van Spronsen
BACKGROUND: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability...
August 29, 2018: Orphanet Journal of Rare Diseases
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