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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/29229001/a-novel-mutation-of-hoxa11-in-a-patient-with-septate-uterus
#1
Ying Zhu, Zhi Cheng, Jing Wang, Beihong Liu, Longfei Cheng, Beili Chen, Yunxia Cao, Binbin Wang
BACKGROUND: The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11. RESULTS: We identified a potential disease-causing mutation (p. E255K) in a patient with a septate uterus. The mutation was not detected in 169 control subjects or listed in any databases of variations. Bioinformatic predictions and functional studies showed that the mutation reduces the DNA binding affinity and disrupts transactivation ability of HOXA11...
December 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29212508/health-related-quality-of-life-among-adults-with-diverse-rare-disorders
#2
Kathleen R Bogart, Veronica L Irvin
BACKGROUND: Twenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-related quality of life (HRQL) research has been restricted to single RDs, small samples, or non-validated measures. This study reports HRQL among adults with diverse RDs, and compares their scores to those of the U.S. population and people with common chronic health conditions...
December 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29208051/a-novel-mutation-in-st14-at-a-functionally-significant-amino-acid-residue-expands-the-spectrum-of-ichthyosis-hypotrichosis-syndrome
#3
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete. RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p...
December 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29183396/indirect-estimation-of-the-prevalence-of-spinal-muscular-atrophy-type-i-ii-and-iii-in-the-united-states
#4
Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P Reyna, Suzanne F Cook, W Dana Flanders
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are needed to characterize the burden of SMA and to understand trends in prevalence by disease type as new treatments become available. The reported estimates of SMA genotype prevalence at birth consistently range from 8.5-10.3 per 100,000 live births, with a mid-range estimate of 9...
November 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29162129/integrating-molecular-and-structural-findings-wnt-as-a-possible-actor-in-shaping-cognitive-impairment-in-cornelia-de-lange-syndrome
#5
REVIEW
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P Bulfamante, Angelo Selicorni, Valentina Massa
Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. In this review we investigate the possible link between Wnt pathway disruption and brain abnormalities in Cornelia de Lange Syndrome as such molecular impairment could lead to an abnormal embryonic development resulting in brain abnormalities (i...
November 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#6
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29096665/genotype-phenotype-correlations-and-expansion-of-the-molecular-spectrum-of-ap4m1-related-hereditary-spastic-paraplegia
#7
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B Singleton, Georgia Xiromerisiou
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29096663/measuring-what-matters-to-rare-disease-patients-reflections-on-the-work-by-the-irdirc-taskforce-on-patient-centered-outcome-measures
#8
Thomas Morel, Stefan J Cano
Our ability to evaluate outcomes which genuinely reflect patients' unmet needs, hopes and concerns is of pivotal importance. However, much current clinical research and practice falls short of this objective by selecting outcome measures which do not capture patient value to the fullest. In this Opinion, we discuss Patient-Centered Outcomes Measures (PCOMs), which have the potential to systematically incorporate patient perspectives to measure those outcomes that matter most to patients. We argue for greater multi-stakeholder collaboration to develop PCOMs, with rare disease patients and families at the center...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29078792/erratum-to-quantification-of-gait-in-mitochondrial-m-3243a%C3%A2-%C3%A2-g-patients-a-validation-study
#9
Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian C H Janssen, Jan Smeitink
No abstract text is available yet for this article.
October 27, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29073922/mimicking-hypersensitivity-pneumonitis-as-an-uncommon-initial-presentation-of-chronic-granulomatous-disease-in-children
#10
LETTER
Hui Liu, Jinrong Liu, Huimin Li, Yun Peng, Shunying Zhao
Dry cough, dyspenea and diffuse centrilobular nodules in both lungs of radiologic findings similar to hypersensitivity pneumonitis (HP) are rare initial presentation in chronic granulomatous disease (CGD). CGD is remarkable for increased susceptibility to bacterial and fungal infections as well as high sensitivity to inciting antigens such as Aspergillus species due to dysregulated inflammation. We identified three children who had an initial presentation mimicking HP and were subsequently diagnosed as CGD...
October 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29061114/mortality-in-patients-with-sanfilippo-syndrome
#11
Christine Lavery, Chris J Hendriksz, Simon A Jones
BACKGROUND: Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977-2007...
October 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#12
Riccardo Papa, Matteo Doglio, Helen J Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29047377/cognitive-impairment-profile-in-adult-patients-with-niemann-pick-type-c-disease
#13
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
BACKGROUND: Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up. METHODS: We conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29037240/kh176-under-development-for-rare-mitochondrial-disease-a-first-in-man-randomized-controlled-clinical-trial-in-healthy-male-volunteers
#14
Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink
BACKGROUND: Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule under development for the treatment of mitochondrial(-related) diseases. The compound is a member of a new class of drugs, acting as a potent intracellular redox-modulating agent essential for the control of oxidative and redox pathologies. The aim of this randomized, placebo controlled, double-blinded phase 1 study was to test safety, tolerability and pharmacokinetics of single and multiple doses of KH176 in healthy male volunteers...
October 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29037196/unmet-clinical-needs-and-burden-in-angelman-syndrome-a-review-of-the-literature
#15
REVIEW
Anne C Wheeler, Patricia Sacco, Raquel Cabo
BACKGROUND: Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. MAIN TEXT: A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden...
October 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29025426/the-complete-european-guidelines-on-phenylketonuria-diagnosis-and-treatment
#16
REVIEW
A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska, S C Huijbregts, S Kearney, V Leuzzi, F Maillot, A C Muntau, M van Rijn, F Trefz, J H Walter, F J van Spronsen
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method...
October 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#17
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28969699/a-randomized-controlled-double-blind-crossover-trial-of-triheptanoin-in-alternating-hemiplegia-of-childhood
#18
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze
BACKGROUND: Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. METHODS: We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations...
October 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28969652/transient-yellow-discoloration-of-the-nails-for-differential-diagnosis-with-yellow-nail-syndrome
#19
LETTER
Anca Chiriac, Adrian Naznean, Cristian Podoleanu, Simona Stolnicu
A differential diagnosis must be made between transient yellow discoloration of the nails and yellow nail syndrome. We highlight some practical aspects of yellow nail discoloration.
October 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28950889/urinary-bowel-and-sexual-symptoms-in-a-cohort-of-patients-with-friedreich-s-ataxia
#20
Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
BACKGROUND: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. METHODS: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living...
September 26, 2017: Orphanet Journal of Rare Diseases
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