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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/27919255/abnormal-pelvic-morphology-and-high-cervical-length-are-responsible-for-high-risk-pregnancies-in-women-displaying-achondroplasia
#1
LETTER
Alexandre J Vivanti, Anne-Gael Cordier, Geneviève Baujat, Alexandra Benachi
Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathological anatomy of the pelvis. Thus, there is a foreseeable dystocia owing to cephalopelvic disproportion. Furthermore, this situation could also complicate cervical ripening prior to fetal extraction.
December 5, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27914482/familial-vs-sporadic-sarcoidosis-btnl2-polymorphisms-clinical-presentations-and-outcomes-in-a-french-cohort
#2
Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn, Claire Bardel, Dominique Valeyre
BACKGROUND: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated. RESULTS: The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 140 families. The logistic multivariate model showed that a young age at diagnosis and the combination of lung and skin involvement at diagnosis may distinguish sporadic from familial sarcoidosis (p = 0...
December 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#3
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27908281/health-technology-assessment-of-drugs-for-rare-diseases-insights-trends-and-reasons-for-negative-recommendations-from-the-cadth-common-drug-review
#4
REVIEW
Ghayath Janoudi, William Amegatse, Brendan McIntosh, Chander Sehgal, Trevor Richter
BACKGROUND: A shift in biochemical research towards drugs for rare diseases has created new challenges for the pharmaceutical industry, government regulators, health technology assessment agencies, and public and private payers. In this article, we aim to comprehensively review, characterize, identify possible trends, and explore reasons for negative reimbursement recommendations in submissions made to the Common Drug Review (CDR) for drugs for rare diseases (DRD) at the Canadian Agency for Drugs and Technologies in Health (CADTH), a publicly funded pan-Canadian health technology assessment agency...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#5
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27903269/fostering-collaborative-research-for-rare-genetic-disease-the-example-of-niemann-pick-type-c-disease
#6
LETTER
Steven U Walkley, Cristin D Davidson, Jonathan Jacoby, Philip D Marella, Elizabeth A Ottinger, Christopher P Austin, Forbes D Porter, Charles H Vite, Daniel S Ory
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27894323/health-related-quality-of-life-and-a-cost-utility-simulation-of-adults-in-the-uk-with-osteogenesis-imperfecta-x-linked-hypophosphatemia-and-fibrous-dysplasia
#7
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K Javaid, Rafael Pinedo-Villanueva
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016...
November 28, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#8
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27884167/rett-syndrome-biological-pathways-leading-from-mecp2-to-disorder-phenotypes
#9
REVIEW
Friederike Ehrhart, Susan L M Coort, Elisa Cirillo, Eric Smeets, Chris T Evelo, Leopold M G Curfs
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding protein 2 (MECP2), is responsible for the disease. The most important action of MECP2 is regulating epigenetic imprinting and chromatin condensation, but MECP2 influences many different biological pathways on multiple levels although the molecular pathways from gene to phenotype are currently not fully understood...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27876091/symmetrical-acrokeratoderma-a-case-series-in-indian-patients
#10
LETTER
Keshavamurthy Vinay, Gitesh U Sawatkar, Uma N Saikia, Sunil Dogra
: Symmetrical acrokeratoderma is a recently described dermatosis in young adult males of Chinese descent. In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patients had asymptomatic, brownish-black plaques distributed symmetrically over dorsum of hand and feet with variable involvement of wrist, flexural surface of forearm, elbow, ankles, shin and knee joint. Palms and soles were characteristically spared. Typically whitish maceration of the lesions was seen after immersing in water...
November 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27876060/20-year-follow-up-study-of-danish-hht-patients-survival-and-causes-of-death
#11
Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway which is responsible for angiogenesis. Modulations of angiogenesis may influence cancer rates. The objective of the study was to evaluate 20-year survival according to HHT subtype, as well as to evaluate differences in causes of death comparing HHT patients and controls...
November 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27871307/current-models-of-care-for-disorders-of-sex-development-results-from-an-international-survey-of-specialist-centres
#12
Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S Faisal Ahmed
BACKGROUND: To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. RESULTS: A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries...
November 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27871301/an-innovative-and-collaborative-partnership-between-patients-with-rare-disease-and-industry-supported-registries-the-global-ahus-registry
#13
REVIEW
Len Woodward, Sally Johnson, Johan Vande Walle, Joran Beck, Christoph Gasteyger, Christoph Licht, Gema Ariceta
BACKGROUND: Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that collect data from patients can increase knowledge of the disease's natural history, evaluate clinical therapies, monitor drug safety, and measure quality of care. The active participation of patients is expected to optimise rare-disease management and improve patient outcomes...
November 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27852283/effect-of-cessation-of-gh-treatment-on-cognition-during-transition-phase-in-prader-willi-syndrome-results-of-a-2-year-crossover-gh-trial
#14
R J Kuppens, E F Mahabier, N E Bakker, E P C Siemensma, S H Donze, A C S Hokken-Koelega
BACKGROUND: Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH) might deteriorate their GH-induced improved cognition, while continuation might benefit them. We, therefore, investigated the effects of placebo versus GH administration on cognition in young adults with PWS who were GH-treated for many years during childhood and had attained AH...
November 16, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27852280/treatment-management-during-the-adolescent-transition-period-of-girls-and-young-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-mrkhs-a-systematic-literature-review
#15
REVIEW
Anke Wagner, Sara Yvonne Brucker, Esther Ueding, Dagmar Gröber-Grätz, Elisabeth Simoes, Katharina Rall, Andrea Kronenthaler, Norbert Schäffeler, Monika A Rieger
INTRODUCTION: In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), also known as Müllerian agenesis...
November 16, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27829465/insights-into-rare-diseases-from-social-media-surveys
#16
LETTER
William Davies
The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obtain unprecedented access to relatively large cohorts of individuals with rare diseases, as well as their relatives, carers and professionals involved in their healthcare. Online surveys of these stakeholder groups may provide important new insights into rare conditions and their management relatively quickly and easily, with the possibility of rapid translation into healthcare interventions and policy...
November 9, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27825362/the-rudy-study-platform-a-novel-approach-to-patient-driven-research-in-rare-musculoskeletal-diseases
#17
M K Javaid, L Forestier-Zhang, L Watts, A Turner, C Ponte, H Teare, D Gray, N Gray, R Popert, J Hogg, J Barrett, R Pinedo-Villanueva, C Cooper, R Eastell, N Bishop, R Luqmani, P Wordsworth, J Kaye
BACKGROUND: Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. This report describes the structure of the Rare UK Diseases Study (RUDY) platform that aims to improve research processes and address many of the challenges of carrying out rare musculoskeletal disease research. RUDY is an internet-based platform with online registration, initial verbal consent, online capture of patient reported outcome measures and events within a dynamic consent framework...
November 8, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27821140/multicenter-questionnaire-survey-for-sporadic-inclusion-body-myositis-in-japan
#18
Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-Ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino, Masashi Aoki
BACKGROUND: Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan. METHODS: We surveyed patient data for 146 cases diagnosed at a number of centers across Japan...
November 8, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27816064/increased-wnt-and-notch-signaling-a-clue-to-the-renal-disease-in-schimke-immuno-osseous-dysplasia
#19
Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschenes, Mattia Gentile, Mario Giordano, Andrew K Gormley, Rajeshree Govender, Mark Joseph, Kory Keller, Evelyne Lerut, Elena Levtchenko, Laura Massella, Christy Mayfield, Behzad Najafian, David Parham, Jurgen Spranger, Peter Stenzel, Uluc Yis, Zhongxin Yu, Jonathan Zonana, Glenda Hendson, Cornelius F Boerkoel
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila...
November 5, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27814735/gene-expression-profiles-and-protein-protein-interaction-networks-in-amyotrophic-lateral-sclerosis-patients-with-c9orf72-mutation
#20
Meena Kumari Kotni, Mingzhu Zhao, Dong-Qing Wei
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that involves the death of neurons. ALS is associated with many gene mutations as previously studied. In order to explore the molecular mechanisms underlying ALS with C9orf72 mutation, gene expression profiles of ALS fibroblasts and control fibroblasts were subjected to bioinformatics analysis. Genes with critical functional roles can be detected by a measure of node centrality in biological networks. In gene co-expression networks, highly connected genes called as candidate hubs have been associated with key disease-related pathways...
November 5, 2016: Orphanet Journal of Rare Diseases
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