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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/28633635/maternal-use-of-selective-serotonin-reuptake-inhibitors-during-pregnancy-is-associated-with-hirschsprung-s-disease-in-newborns-a-nationwide-cohort-study
#1
Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist
BACKGROUND: Hirschsprung's disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung's disease. Two clinical cases of hirschsprung's disease led to an investigation of the association between maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and development of Hirschsprung's Disease in the newborn child. The study examined a nationwide, unselected cohort of children born in Denmark from 1 January 1996 until 12 March 2016 (n = 1,256,317)...
June 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#2
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629392/do-investors-value-the-fda-orphan-drug-designation
#3
Kathleen L Miller
BACKGROUND: The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of drugs that treat rare diseases. This analysis studies the effects of a portion of the Orphan Drug Act, the orphan drug designation. Specifically, it studies the value that investors place on the orphan drug designation, by investigating how investors react to companies' announcing that their product has received the designation. RESULTS: The results, on average, show that the stock price of a company increases by 3...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28623936/safety-and-potential-efficacy-of-gemfibrozil-as-a-supportive-treatment-for-children-with-late-infantile-neuronal-ceroid-lipofuscinosis-and-other-lipid-storage-disorders
#4
REVIEW
Kyeongsoon Kim, Hynda K Kleinman, Hahn-Jun Lee, Kalipada Pahan
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cognitive decline primarily in children. Multiple distinct genes involved in the metabolism of lipids have been identified to date with various mutations in this family of diseases. There is no cure for these diseases but some new therapeutic approaches have been tested that offer more hope than the standard palliative care...
June 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#5
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28619060/incidence-disease-onset-and-short-term-outcome-in-urea-cycle-disorders-cross-border-surveillance-in-germany-austria-and-switzerland
#6
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F Hoffmann, Beate Heinrich, Florian Gleich, Sven F Garbade
BACKGROUND: Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome. METHOD: Cross-border surveillance of newly diagnosed patients with UCDs - below 16 years of age - was performed from July 2012 to June 2015 in Germany and Austria and from January 2012 to December 2015 in Switzerland...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28606101/international-physician-survey-on-management-of-fop-a-modified-delphi-study
#7
Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L De Cunto, Patricia L R Delai, Elisabeth M W Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J Pignolo, Frederick S Kaplan
Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened...
June 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28595620/transcranial-pulsed-ultrasound-facilitates-brain-uptake-of-laronidase-in-enzyme-replacement-therapy-for-mucopolysaccharidosis-type-i-disease
#8
Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumulation of glycosaminoglycans systemically results in severe mental retardation and multiple organ dysfunction. Enzyme replacement therapy with recombinant human alpha-L-iduronidase (rhIDU) improves the function of some organs but not neurological deficits owing to its exclusion from the brain by the blood-brain barrier (BBB)...
June 8, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28576129/treatment-with-long-acting-lanreotide-autogel-in-early-infancy-in-patients-with-severe-neonatal-hyperinsulinism
#9
Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek, Thomas Meissner
BACKGROUND: Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have to undergo pancreatic surgery if episodes of severe hypoglycaemia cannot be prevented. A long-acting somatostatin analogue, octreotide, has been reported to be an effective treatment option that prevents severe hypoglycaemia in children with CHI, and its off-label use is common in CHI...
June 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28569183/the-work-experience-of-a-patient-affected-by-williams-syndrome-a-pilot-project-at-the-bambino-ges%C3%A3-children-s-hospital
#10
LETTER
Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris, Andrea Bartuli
A new approach has been designed at the Bambino Gesù Children's Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is characterized by a combination of distinguishing physical traits, congenital anomalies, intellectual disabilities, and a specific developmental profile.This manuscript describes the case of a Williams Syndrome patient.There are only few papers in the scientific literature describing interventions targeting improvement in the quality of life of adult Williams Syndrome individuals...
May 31, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28569181/the-cost-of-severe-haemophilia-in-europe-the-chess-study
#11
Jamie O'Hara, David Hughes, Charlotte Camp, Tom Burke, Liz Carroll, Daniel-Anibal Garcia Diego
BACKGROUND: Severe haemophilia is associated with major psychological and economic burden for patients, caregivers, and the wider health care system. This burden has been quantified and documented for a number of European countries in recent years. However, few studies have taken a standardised methodology across multiple countries simultaneously, and sought to amalgamate all three levels of burden for severe disease. The overall aim of the 'Cost of Haemophilia in Europe: a Socioeconomic Survey' (CHESS) study was to capture the annualised economic and psychosocial burden of severe haemophilia in five European countries...
May 31, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28558744/tocilizumab-in-the-treatment-of-twelve-cases-with-aa-amyloidosis-secondary-to-familial-mediterranean-fever
#12
Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan, Huri Ozdogan
BACKGROUND: There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently there are few reports pointing out that tocilizumab(TCZ), an anti IL-6 agent may be effective in AA amyloidosis resistant to conventional treatments. We report our data on the effect of TCZ in patients with FMF complicated with AA amyloidosis. METHODS: FMF patients with histologically proven AA amyloidosis, treated with TCZ (8 mg/kg per month) were followed monthly and the changes in creatinine, creatinine clearance, the amount of 24-hour urinary protein, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were noted throughout the treatment period...
May 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28558743/clinical-and-genetic-characteristics-of-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#13
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD...
May 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545593/pigo-deficiency-palmoplantar-keratoderma-and-novel-mutations
#14
LETTER
Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen Freson
BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545554/whipple-s-disease-mimicking-rheumatoid-arthritis-can-cause-misdiagnosis-and-treatment-failure
#15
Cornelia Glaser, Siegbert Rieg, Thorsten Wiech, Christine Scholz, Dominique Endres, Oliver Stich, Peter Hasselblatt, Walter Geißdörfer, Christian Bogdan, Annerose Serr, Georg Häcker, Reinhard E Voll, Jens Thiel, Nils Venhoff
BACKGROUND: Whipple's disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA). METHODS: A retrospective single-center cohort study of seven patients was performed. Clinical symptoms were assessed by review of medical charts and Whipple's disease was diagnosed by periodic-acid-Schiff-stain and/or Tropheryma whipplei-specific polymerase-chain-reaction. RESULTS: Median age at disease onset was 54 years, six patients were male...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545486/depression-in-patients-with-sapho-syndrome-and-its-relationship-with-brain-activity-and-connectivity
#16
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
BACKGROUND: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the first paper to explore the episode and the neurobiological basis of depression symptoms in SAPHO patients using resting state functional magnetic resonance imaging (rs-fMRI). Twenty-eight SAPHO patients and fifteen age- and gender- matched normal controls (NC) were consecutively submitted to psychiatric evaluation and rs-fMRI scanning...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545482/a-plea-to-provide-best-evidence-in-trials-under-sample-size-restrictions-the-example-of-pioglitazone-to-resolve-leukoplakia-and-erythroplakia-in-fanconi-anemia-patients
#17
Florian Lasch, Kristina Weber, Mwe Mwe Chao, Armin Koch
In planning a clinical trial for demonstrating the efficacy of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients we had to discuss the need for a randomized controlled trial particularly under sample-size restrictions as very promising results were available from a single-arm clinical trial. Unfortunately, at a later stage, we had to suffer from the fact that single-arm clinical trials may sometimes mislead. When revisiting our planning at a later stage of a grant application, results of a randomized controlled trial had become available which were less impressive, but may still be of clinical interest...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545481/therapeutic-strategies-to-address-neuronal-nitric-oxide-synthase-deficiency-and-the-loss-of-nitric-oxide-bioavailability-in-duchenne-muscular-dystrophy
#18
REVIEW
Cara A Timpani, Alan Hayes, Emma Rybalka
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis. Since nitric oxide is a potent regulator of skeletal muscle metabolism, mass, function and regeneration, the loss of nitric oxide bioavailability is likely a key contributor to the chronic pathological wasting evident in Duchenne Muscular Dystrophy. As such, various therapeutic interventions to re-establish either the neuronal nitric oxide synthase protein deficit or the consequential loss of nitric oxide synthesis and bioavailability have been investigated in both animal models of Duchenne Muscular Dystrophy and in human clinical trials...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28535796/identification-of-eml4-alk-as-an-alternative-fusion-gene-in-epithelioid-inflammatory-myofibroblastic-sarcoma
#19
Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang, Wei-Qi Lu
BACKGROUND: Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurred and grown rapidly after successful surgery. Some of these tumors were classified as an epithelioid inflammatory myofibroblastic sarcoma (EIMS). Most previously reported EIMSs have been caused by RANBP2-ALK fusion gene. We herein report an EIMS case caused by an EML4-ALK fusion gene...
May 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28535791/clinical-outcomes-in-a-subpopulation-of-adults-with-morquio-a-syndrome-results-from-a-long-term-extension-study-of-elosulfase-alfa
#20
D Hughes, R Giugliani, N Guffon, S A Jones, K E Mengel, R Parini, R Matousek, S M Hawley, A Quartel
BACKGROUND: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-label, long-term extension study of elosulfase alfa (modified per protocol [MPP], n = 32; intent-to-treat [ITT], n = 37; MOR-005; NCT01415427) were compared with the ≥18-year-old untreated population with 2-years follow-up from a Morquio A natural history study (n = 10; MorCAP; NCT00787995)...
May 23, 2017: Orphanet Journal of Rare Diseases
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