1,640 results match your criteria Orphanet Journal of Rare Diseases [Journal]


Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet J Rare Dis 2019 Apr 17;14(1):82. Epub 2019 Apr 17.

Instituto de Investigaciones Biomedicas CSIC/UAM, IDIPaz, Arturo Duperier, 4, 28029, Madrid, Spain.

Background: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1046-0DOI Listing
April 2019
4 Reads

Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet's Aortoiliac aneurysms.

Orphanet J Rare Dis 2019 Apr 15;14(1):81. Epub 2019 Apr 15.

Medical Student, Faculty of Medicine, Helwan University, Cairo, Egypt.

Background: This study was conducted to evaluate our local experiences of adjunctive mechanical prosthetic wrapping for aortoiliac vascular anastomoses as a prophylactic measure following surgical repair of Behçet's aortoiliac aneurysms. The goal of prosthetic wrapping to reinforce the vascular anastomoses by mechanical protection to reduce the bleeding complications, and consequently pseudoaneurysm formation. This was aided by the administration of pre- and postoperative immunosuppressive therapy as an adjuvant treatment. Read More

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http://dx.doi.org/10.1186/s13023-019-1048-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466776PMC

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

Orphanet J Rare Dis 2019 Apr 8;14(1):80. Epub 2019 Apr 8.

Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Background: Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment and poor outcome. The major aim of this study was to identify specific initial symptoms or signs to clinically distinguish hyperammonemic encephalopathy in neonates from neonatal sepsis in order to identify affected individuals with UCD and to start metabolic therapy without delay. Furthermore, we evaluated the impact of diagnostic delay, peak plasma ammonium (NH) concentration, mode of emergency treatment and transfer to a tertiary referral center on the outcome. Read More

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http://dx.doi.org/10.1186/s13023-019-1055-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454767PMC
April 2019
2 Reads

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years.

Orphanet J Rare Dis 2019 Apr 8;14(1):79. Epub 2019 Apr 8.

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.

Background: Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to assess temporal and spatial variability in TOF-related mortality in Spain across the period 1981-2016, using data drawn from the nationwide population-based registry. Read More

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http://dx.doi.org/10.1186/s13023-019-1056-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454694PMC
April 2019
1 Read

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.

Orphanet J Rare Dis 2019 Apr 3;14(1):77. Epub 2019 Apr 3.

Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but the evidence is unclear. We aimed to investigate cancer and premature mortality risk in persons with PCT. Read More

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http://dx.doi.org/10.1186/s13023-019-1051-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448269PMC
April 2019
2 Reads

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus.

Orphanet J Rare Dis 2019 Apr 3;14(1):76. Epub 2019 Apr 3.

Institute of Genetics, Newcastle University, Newcastle upon Tyne, UK.

Background: Discussions continue as to whether ventricular septal defects are best categorized according to their right ventricular geography or their borders. This is especially true when considering the perimembranous defect. Our aim, therefore, was to establish the phenotypic feature of the perimembranous defect, and to establish the ease of distinguishing its geographical variants. Read More

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http://dx.doi.org/10.1186/s13023-019-1044-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448229PMC
April 2019
3 Reads

Characteristics of Pompe disease in China: a report from the Pompe registry.

Orphanet J Rare Dis 2019 Apr 3;14(1):78. Epub 2019 Apr 3.

Shandong University Qilu Hospital, No.107 Wen Hua Xi Road, Jinan, Shandong Province, China.

Background: Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Registry. Chinese patients enrolled in the Registry ( ClinicalTrials. Read More

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http://dx.doi.org/10.1186/s13023-019-1054-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448270PMC
April 2019
3 Reads

Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

Orphanet J Rare Dis 2019 Apr 2;14(1):73. Epub 2019 Apr 2.

Division of Genetics and Metabolism, Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

Background: Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016.

Results: During the study period, 3,155,263 newborns were screened. Read More

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http://dx.doi.org/10.1186/s13023-019-1045-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444613PMC
April 2019
1 Read

"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being.

Orphanet J Rare Dis 2019 Apr 2;14(1):74. Epub 2019 Apr 2.

Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Randwick, Australia.

Background: Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to maintain functional mobility, independence and quality of life. Little is known about how adults with SMA experience healthcare, or the components of care perceived as important in promoting well-being. Read More

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http://dx.doi.org/10.1186/s13023-019-1052-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446316PMC
April 2019
1 Read

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy.

Orphanet J Rare Dis 2019 Apr 2;14(1):75. Epub 2019 Apr 2.

Medical Management Centre, Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1186/s13023-018-0975-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446357PMC
April 2019
1 Read

Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.

Orphanet J Rare Dis 2019 Mar 29;14(1):72. Epub 2019 Mar 29.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomatosis (LAM). Associations of endostatin levels to clinical features of LAM were explored using logistic regression models. Read More

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http://dx.doi.org/10.1186/s13023-019-1050-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440133PMC
March 2019
2 Reads

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers.

Orphanet J Rare Dis 2019 Mar 22;14(1):71. Epub 2019 Mar 22.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, P.O. BOX 2060, 3000, CB, Rotterdam, The Netherlands.

Purpose: To evaluate whether immunomodulation can eliminate high sustained antibody levels, and thereby improve clinical outcome in classic infantile Pompe patients receiving enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA).

Methods: Three patients (two cross-reactive immunologic material (CRIM) negative) with high sustained antibodies received a three-week treatment protocol with Rituximab and Bortezomib, followed by daily Rapamycin and monthly IVIG. Patients received 40 mg/kg/week rhGAA. Read More

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http://dx.doi.org/10.1186/s13023-019-1039-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431009PMC
March 2019
1 Read

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Orphanet J Rare Dis 2019 Mar 22;14(1):70. Epub 2019 Mar 22.

School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, 600 Peter Morand Cr, Ottawa, ON, K1G 5Z3, Canada.

Background: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort.

Methods: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). Read More

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http://dx.doi.org/10.1186/s13023-019-1001-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431026PMC

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study.

Orphanet J Rare Dis 2019 Mar 21;14(1):69. Epub 2019 Mar 21.

Outpatient clinic for rare inflammatory systemic diseases, Department of Nephrology, Hannover Medical School, Carl-Neuberg-Straße 1, Hannover, 30625, Germany.

Background: Rare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases. Probabilistic diagnostic decision support systems (DDSSs) have the potential to accelerate rare disease diagnosis by suggesting differential diagnoses for physicians based on case input and incorporated medical knowledge. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1040-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427854PMC
March 2019
5 Reads

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Orphanet J Rare Dis 2019 Mar 20;14(1):68. Epub 2019 Mar 20.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

Background: The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea.

Results: Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium. Read More

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http://dx.doi.org/10.1186/s13023-019-1041-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427886PMC
March 2019
3.358 Impact Factor

Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency.

Orphanet J Rare Dis 2019 Mar 18;14(1):67. Epub 2019 Mar 18.

Department of Family Medicine, Semmelweis University, Budapest POB 2, Kútvölgyi str. 4, Budapest, H-1125, Hungary.

Background And Aims: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Human fetuin-A is a multifunctional glycoprotein that belongs to the proteinase inhibitor cystatin superfamily and has structural similarities to the high molecular weight kininogen. Fetuin-A is also known a negative acute phase reactant with anti-inflammatory characteristics. Read More

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http://dx.doi.org/10.1186/s13023-019-0995-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423823PMC
March 2019
1 Read

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Orphanet J Rare Dis 2019 Mar 14;14(1):66. Epub 2019 Mar 14.

CHRU de Tours, Service de Médecine Interne, Université François Rabelais, Tours, France.

Background: The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use. The registry included patients of all ages with homocystinuria who were treated with betaine anhydrous in conjunction with other therapies. Clinical data were collected retrospectively from 2007 to 2013, then prospectively up to February 2014. Read More

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http://dx.doi.org/10.1186/s13023-019-1036-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419445PMC

Microscopic versus endoscopic transsphenoidal surgery in the Leiden cohort treated for Cushing's disease: surgical outcome, mortality, and complications.

Orphanet J Rare Dis 2019 Mar 11;14(1):64. Epub 2019 Mar 11.

Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

Background: First-choice treatment for Cushing's disease is transsphenoidal adenomectomy. Since its introduction in the 1970s, many centers have now switched from microscopic to endoscopic surgery. We compared both techniques for the treatment of Cushing's disease at the Leiden University Medical Center, a European reference center for pituitary diseases. Read More

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http://dx.doi.org/10.1186/s13023-019-1038-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416951PMC
March 2019
3 Reads

Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate.

Orphanet J Rare Dis 2019 Mar 13;14(1):65. Epub 2019 Mar 13.

Department of Medical Psychology and Medical Sociology, Johannes Gutenberg University, Mainz, Germany.

Background: Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell lymphoma and other disorders. The purpose of this study was to describe the characteristics and associated disorders of patients with AAE-C1-INH and assess the efficacy of plasma-derived C1-INH concentrate (pdC1-INH) in the treatment of AAE-C1-INH. Read More

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http://dx.doi.org/10.1186/s13023-019-1043-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417199PMC
March 2019
2 Reads

Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.

Orphanet J Rare Dis 2019 Mar 4;14(1):62. Epub 2019 Mar 4.

Respiratory Pathophysiology and Intensive Care Unit, Department of Cardio-Thoracic, University-City Hospital of Padova, Padova, Italy.

Background: Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. We hypothesize that assessing the GAA activity in suspected patients by a dried blood spot (DBS) may help the diagnosis of LOPD in the pneumological setting. Read More

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http://dx.doi.org/10.1186/s13023-019-1037-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399888PMC
March 2019
1 Read
3.358 Impact Factor

Analysis of LPI-causing mutations on y+LAT1 function and localization.

Orphanet J Rare Dis 2019 Mar 4;14(1):63. Epub 2019 Mar 4.

Unit of General Pathology, Deptartment of Medicine and Surgery (DiMeC), University of Parma, Via Volturno 39, 43125, Parma, Italy.

Background: y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the basolateral membrane of intestinal and renal tubular cells. The disease is characterized by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous with lung and immunological complications that are not explainable by the CAA transport defect. With the exception of the Finnish founder mutation (c. Read More

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http://dx.doi.org/10.1186/s13023-019-1028-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399926PMC
March 2019
1 Read

Web-based personalised information and support for patients with a neuroendocrine tumour: randomised controlled trial.

Orphanet J Rare Dis 2019 Feb 28;14(1):60. Epub 2019 Feb 28.

Department of Medical Oncology, University of Groningen, University Medical Centre Groningen, DA11, PO Box 30.001, 9700, RB, Groningen, The Netherlands.

Background: Patients with a neuroendocrine tumour (NET) frequently have physical and psychosocial complaints. Aim of this study is to determine whether a web-based, personalised information and support system (WINS) reduces distress and/or improves patients' perception of and satisfaction with information received.

Methods: Patients with NET, stratified for those newly diagnosed (< 6 months, n = 28) and with a longer history of disease (n = 74), were randomised between standard care (n = 49) and intervention, consisting of access to WINS (n = 53). Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1035-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394034PMC
February 2019
8 Reads

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Orphanet J Rare Dis 2019 Feb 28;14(1):61. Epub 2019 Feb 28.

Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy.

Background: Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytopenia and myelokathexis which is caused by heterozygous gain of functions mutations of the CXC chemokine receptor 4 (CXCR4). WHIM patients display an increased incidence of non-hematopoietic conditions, such as congenital heart disease suggesting that abnormal CXCR4 may put these patients at increased risk of congenital anomalies. Studies conducted on CXCR4 and SDF-1-deficient mice have demonstrated the role of CXCR4 signaling in neuronal cell migration and brain development. Read More

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http://dx.doi.org/10.1186/s13023-019-1030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396443PMC
February 2019
3 Reads

Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.

Orphanet J Rare Dis 2019 Feb 28;14(1):53. Epub 2019 Feb 28.

Faculty of Medical and Health Sciences, The University of Auckland, 85 Park Road, Grafton, Auckland, 1023, New Zealand.

Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a 5-year-old boy with Worster Drought Syndrome, I became inadvertently caught in the trap of focusing on his diagnosis rather than CS as a patient. I fumbled around CS's past medical history by fervently asking about all the different types of seizures he was plagued by. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1024-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394087PMC
February 2019
4 Reads

Congenital myasthenic syndromes.

Authors:
Josef Finsterer

Orphanet J Rare Dis 2019 Feb 26;14(1):57. Epub 2019 Feb 26.

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Postfach 20, 1180, Vienna, Austria.

Objectives: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. Since the field of CMSs is steadily expanding, the present review aimed at summarizing and discussing current knowledge and recent advances concerning the etiology, clinical presentation, diagnosis, and treatment of CMSs.

Methods: Systematic literature review. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1025-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390566PMC
February 2019
7 Reads

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Orphanet J Rare Dis 2019 Feb 26;14(1):59. Epub 2019 Feb 26.

CIBERER-ISCIII, Madrid, Spain.

Background: Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when carriers develop typical acute neurovisceral attacks with elevation of porphyrin precursors, while the absence of attacks is referred to as latent AIP (LAIP). Attacks are often triggered by drugs, endocrine factors, fasting or stress. Read More

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http://dx.doi.org/10.1186/s13023-019-1031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390611PMC
February 2019
1 Read

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Orphanet J Rare Dis 2019 Feb 26;14(1):56. Epub 2019 Feb 26.

Institute of Clinical Chemistry, University Hospital Bern, Inselspital, Bern, Switzerland.

Background: Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Read More

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http://dx.doi.org/10.1186/s13023-019-0999-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390315PMC
February 2019
1 Read

FGF23 and its role in X-linked hypophosphatemia-related morbidity.

Orphanet J Rare Dis 2019 Feb 26;14(1):58. Epub 2019 Feb 26.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Background: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. Read More

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http://dx.doi.org/10.1186/s13023-019-1014-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390548PMC
February 2019
1 Read

Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1.

Orphanet J Rare Dis 2019 02 22;14(1):54. Epub 2019 Feb 22.

Section "Endocrine Surgery", Division of General Surgery, Department of Surgery, Medical University, Währinger Gürtel 18-20, A-1090, Vienna, Austria.

Background: Patients with multiple endocrine neoplasia type 1 (MEN-1) develop multiple pancreatic neuroendocrine neoplasias (PNENs). Size at diagnosis and growth during follow-up are crucial parameters. According to the WHO 2017, grading is another important parameter. Read More

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http://dx.doi.org/10.1186/s13023-019-1034-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387504PMC
February 2019
3 Reads

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.

Orphanet J Rare Dis 2019 02 22;14(1):55. Epub 2019 Feb 22.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

Background: Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pick type B). We conducted a long-term observational, single-center study including 16 patients with chronic visceral ASMD.

Results: 12 patients were diagnosed in childhood and 4 others in adulthood, the oldest at the age of 50. Read More

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http://dx.doi.org/10.1186/s13023-019-1029-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387484PMC
February 2019
3 Reads

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability.

Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019
3 Reads

Guidelines on the diagnosis and management of the progressive ataxias.

Orphanet J Rare Dis 2019 02 20;14(1):51. Epub 2019 Feb 20.

Ataxia Centre, Department of Molecular Neurosciences, UCL Queen Sqaure Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions, has developed medical guidelines for the diagnosis and management of ataxia. Although ataxia can be a symptom of many common conditions, the focus here is on the progressive ataxias, and include hereditary ataxia (e. Read More

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http://dx.doi.org/10.1186/s13023-019-1013-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381619PMC
February 2019

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Orphanet J Rare Dis 2019 02 18;14(1):46. Epub 2019 Feb 18.

Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA.

Background: Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease results in progressive neurodegeneration with reduced quality of life and early death. The purpose of this prospective study was to describe the natural progression of early onset Krabbe disease in a large cohort of patients. Read More

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http://dx.doi.org/10.1186/s13023-019-1018-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378723PMC
February 2019
3 Reads

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015.

Orphanet J Rare Dis 2019 02 18;14(1):49. Epub 2019 Feb 18.

The Institute for Occupational Health, Yonsei University College of Medicine, Seoul, Republic of Korea.

Background: The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumulative incidence of rare diseases and the trends in annual cumulative incidence from 2011 to 2015 in Korea by using nationwide administrative data from the Korean National Health Insurance Service (NHIS) database for patients registered with the co-payment assistance policy for rare and incurable diseases. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1032-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379926PMC
February 2019
17 Reads

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.

Orphanet J Rare Dis 2019 02 18;14(1):48. Epub 2019 Feb 18.

Invitae, San Francisco, CA, USA.

Background: Severe mucopolysaccharidosis type I (also known as Hurler syndrome) is a rare devasting recessive genetic disease caused by the deficiency of an enzyme. Hematopoietic stem cell transplant is the standard of care in the United States, usually conducted before the child is 3 years of age, but little is known about the continued medical and educational needs of the child after transplant. A greater understanding of the burden of illness on the primary caregiver is also needed. Read More

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http://dx.doi.org/10.1186/s13023-019-1027-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378738PMC
February 2019

Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study.

Orphanet J Rare Dis 2019 02 18;14(1):50. Epub 2019 Feb 18.

Department of Obstetrics and Gynecology, China-Japan Friendship Hospital, Beijing, China.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. HLH manifesting during pregnancy has been paid much attention in recent years. Despite the specificity of pregnancy-related HLH, there has not been any consensus regarding its treatment. Read More

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http://dx.doi.org/10.1186/s13023-019-1033-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380007PMC
February 2019
1 Read

Patient access to orphan drugs in France.

Orphanet J Rare Dis 2019 02 18;14(1):47. Epub 2019 Feb 18.

INSERM UMR 1027, Toulouse, 37 allées Jules Guesde, 31000, Toulouse, France.

Background: Since incentives were introduced to promote orphan drugs in Europe, several dozens of drugs have been registered at the European level. However, patient access on a national level remains very heterogeneous across Europe. This can be explained by healthcare organization and drug reimbursement, which are within the purview of each Member State. Read More

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http://dx.doi.org/10.1186/s13023-019-1026-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378733PMC
February 2019

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU.

Orphanet J Rare Dis 2019 02 15;14(1):44. Epub 2019 Feb 15.

Dietetic Department, Birmingham Childrens Hospital, Steelhouse Lane, Birmingham, B4 6 NH, UK.

In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount and ratio of additional amino acids is undefined.

Aim: A longitudinal, parallel, controlled study over 12 months evaluating a CGMP (CGMP-AA2) formulation compared with phenylalanine-free L-amino acid supplements (L-AA) on blood Phe, Tyr, Phe:Tyr ratio, biochemical nutritional status and growth in children with PKU. Read More

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http://dx.doi.org/10.1186/s13023-019-1011-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377744PMC
February 2019

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Orphanet J Rare Dis 2019 02 15;14(1):45. Epub 2019 Feb 15.

Center for Medical Genetics, School of life sciences, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, People's Republic of China.

Background: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis rapidly and detect the mosaic mutation when only sanger sequencing is taken. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774PMC
February 2019
8 Reads

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Orphanet J Rare Dis 2019 02 14;14(1):43. Epub 2019 Feb 14.

Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, China.

Background: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them. Read More

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http://dx.doi.org/10.1186/s13023-019-1021-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703PMC
February 2019
3 Reads

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.

Orphanet J Rare Dis 2019 02 13;14(1):40. Epub 2019 Feb 13.

Syreon Research Institute, Mexikói str. 65/A, Budapest, H-1142, Hungary.

Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC 6.4.1. Read More

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http://dx.doi.org/10.1186/s13023-018-0987-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375193PMC
February 2019
2 Reads

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis.

Orphanet J Rare Dis 2019 02 13;14(1):39. Epub 2019 Feb 13.

Department of Pharmacy, Peking University First Hospital, 6 Dahongluochang Street, Xicheng District, Beijing, 100034, China.

Background: The treatment of tuberous sclerosis complex (TSC) using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to evaluate the efficacy and safety of mTOR inhibitors for improving the clinical symptoms of TSC.

Methods: We performed a systematic search of major electronic databases (PubMed, EMBASE, Cochrane Library and WanFang, CNKI, and VIP databases) to identify randomized controlled trials (RCTs) and quasi-randomized studies from the date of database inception to November 2017; the Chinese Food and Drug Administration and clinicaltrials. Read More

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http://dx.doi.org/10.1186/s13023-019-1012-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373010PMC
February 2019
3 Reads

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019
2 Reads

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.

Orphanet J Rare Dis 2019 02 13;14(1):42. Epub 2019 Feb 13.

CHU Lille, Endocrinology, Diabetology and Metabolism, F-59000, Lille, France.

Background: Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in 115 genetically-proven DM1 patients in a neuromuscular reference center. The aim of this study was to determine the prevalence and the causes of US thyroid abnormalities in DM1. Read More

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http://dx.doi.org/10.1186/s13023-019-1019-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375124PMC
February 2019
3 Reads

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

Background: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A.

Results: In three individuals with developmental delay we identified heterozygous de novo missense variants in TUBA1A using exome sequencing. Read More

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019
5 Reads

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.

Orphanet J Rare Dis 2019 01;14(1):37

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.

Background: Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range of clinical features, identify targets for monitoring, and increase knowledge of natural history of the disease, we conducted muscle strength testing, functional exercise capacity testing, physical activity assessment, balance assessment and motion reaction time testing in 33 affected individuals and 14 controls. We analyzed data points to provide a cross-sectional quantitative spectrum of disease characteristics. Read More

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http://dx.doi.org/10.1186/s13023-019-1006-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371525PMC
January 2019
1 Read

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders.

Orphanet J Rare Dis 2019 02 8;14(1):36. Epub 2019 Feb 8.

Amicus Therapeutics, Inc., 1 Cedar Brook Drive, Cranbury, NJ, 08512, USA.

Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulatory standards for drug approval for rare diseases must ensure that patients receive safe and efficacious treatments. Read More

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http://dx.doi.org/10.1186/s13023-019-1017-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368795PMC
February 2019
2 Reads

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.

Orphanet J Rare Dis 2019 02 8;14(1):33. Epub 2019 Feb 8.

Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.

Background: MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, they are not resolved with the current treatment interventions. Recently, our understanding of the GI pathology has increased, which rationalizes the pursuit of more targeted therapeutic strategies. Read More

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http://dx.doi.org/10.1186/s13023-019-1016-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368792PMC
February 2019
8 Reads

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.

Orphanet J Rare Dis 2019 02 8;14(1):34. Epub 2019 Feb 8.

Pfizer Inc., Collegeville, PA, USA.

We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases were from countries where ATTR-PN is traditionally considered to be endemic (i.e. Read More

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http://dx.doi.org/10.1186/s13023-019-1000-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368811PMC
February 2019
4 Reads

Primary pulmonary lymphoma in children.

Orphanet J Rare Dis 2019 02 8;14(1):35. Epub 2019 Feb 8.

Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, China.

Background: Primary pulmonary lymphoma (PPL) is a rare disease, especially in children. We analyse the clinical features of PPL in 4 children to strengthen a understanding of it.

Results: We reported a case series of 4 pediatric patients with PPLs including three diffuse large B-cell lymphomas and one natural killer-T cell lymphoma. Read More

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http://dx.doi.org/10.1186/s13023-019-1009-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368794PMC
February 2019
1 Read