articles on rare diseases

Rare Diseases. There are 7,000 rare diseases affecting 25 million to 30 million Americans. This report emphasizes the need to exclude other causes of hyperprolactinemia including prolactinoma, in patients who are compliant with optimized L-Dopa treatment and their prolactin levels remain significantly high. A Careful Interpretation of the Audiometry may contribute to the Diagnosis of Alport Syndrome: A Pilot Study, Claudio Alves Andrade Cardoso#, Danilo Euclides Fernandes#*, Michelle Tiveron Passos Riguetti, Gianna Mastroianni Kirsztajn, Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo - SP, 04021-001, Brazil. 16:371. Of Radiodiagnosis & Imaging, SKIMS, Soura, Srinagar, Jammu and Kashmir, India. 16:345. This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. To date, less than 100 cases of ABL have been reported worldwide. Orphanet Journal of Rare Diseases Part of National Institute Mongi Ben Hmida of Neurology. The unidentified person, who died last month in Georgia, was the . Orphanet Journal of Rare Diseases This suggests other factors may impact decreased sleep in BTHS and warrants future studies into the causes of decreased sleep and the relationship to physical activity in this population. The Global . Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs.The journal publishes … Authors: Nimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, P. Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey, Joel Katz, Lianne McLean, Dmitry Rozenberg, Louis Liu, Yvonne Tse, Colleen Parker…, Citation: Register for Free. Patients with rare diseases often bounce from doctor to doctor for years on end looking for answers. Alimentary tract duplications are rare congenital lesions, and only 2–8% of them are located in the stomach. 2021 16:386. Although rare diseases collectively impact 1 in 10 people in the US and therefore could be considered "common," there are more than 7,000 different known rare diseases (with some estimates as high as 9,000+), and each can manifest very differently. 2021 This definition was created by Congress in the … Found insideThis work explains the purpose of statistical methods in medical studies and analyzes the statistical techniques used by clinical investigators, with special emphasis on studies published in "The New England Journal of Medicine". Farber disease: A Fatal Childhood Disorder with Nervous System Involvement, Ichraf Kraoua1,2,3, Thouraya Ben Younes1,2,3*, Virginie Garcia4, Hanene Benrhouma1,2,3, Hedia Klaa1,2,3, Aida Rouissi1,2,3, Thierry Levade4,5, Ilhem Ben Youssef-Turki1,2,3, 1Department of Child and Adolescent Neurology. "In rare disease, patients are often more integrated into the treatment development and approval process," says Brenda Cooperstone, M.D., VP, medicines development group, Pfizer. Epidemiology of the Global Fibrodysplasia Ossificans Progressiva (FOP) Community, Moira Liljesthröm1, Robert J. Pignolo2, Frederick S. Kaplan3*, 1President of Fundación FOP, Argentina; Argentine Representative to the International President’s Council of the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), Buenos Aires, Argentina, 2Department of Medicine, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN 55905, USA, 3The Departments of Orthopaedic Surgery, Medicine and The Center for Research in FOP & Related Disorders, The Perelman School of Medicine of The University of Pennsylvania, Philadelphia, PA 19104, USA. 2021 Doctors may never have seen a patient with one of these conditions. Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by ... Authors: Mark P. Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, Julien Patris and David Cassiman, Citation: 2021 2021 You can search their site or obtain a printed report for a specific disorder by ordering it through NORD's Web site, by calling, or by writing to NORD. Few are preventable or curable, most are chronic and many result in early … The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Genetic Landscape of aHUS: A Comprehensive Analysis of Genetic Variants Reported in The Literature, Rui-Ru Ji1*, Tatiana Serebriyskaya2,3, Natalia Kuzkina2,3, 1Alexion Pharmaceuticals, Inc., 121 Seaport Boulevard, Boston, MA 02210, USA, 2EPAM Systems, 22/2 Zastavskaya Street, MegaPark, 196084, Saint-Petersburg, Russia, 3Moscow Institute of Physics and Technology, School of Biological and Medical Physics, 9 Institutskiy per., Dolgoprudny, 141701, Moscow, Russia. A U.S. resident is hospitalized in Dallas with a rare confirmed case of monkeypox, the Centers for Disease Control and Prevention (CDC) and Texas health officials announced Friday. 16:383. These conditions are complex and often not well understood, causing greater challenges to diagnose and treat. Orphanet Journal of Rare Diseases PACS1-Neurodevelopmental disorder: clinical features and trial readiness, Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study, Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender, Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia, Functional results after carpal tunnel release in mucopolysaccharidosis, Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey, Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials, The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel, Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy, Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study, The de novo FAIRification process of a registry for vascular anomalies, Growth patterns in children with spinal muscular atrophy, The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy, Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia, Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations, Impact of glycogen storage disease type I on adult daily life: a survey, Patients with neuromyelitis optica spectrum disorder (NMOSD) are associated with adverse outcome after total hip arthroplasty: a matched case–control study, Clinical features of gastric duplications: evidence from primary case reports and published data, A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria, A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex, PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data, Quality of life of transplanted children and their parents: a cross-sectional study, Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers, Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis, Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics. Background:Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease characterized by malformed great toes and progressive heterotopic ossification (HO) in soft tissues. Orphanet Journal of Rare Diseases OBJECTIVE: To compare the prevalence of hearing loss according to different criteria – World Health Organization, WHO; Global Burden Disease, GBD and Clark – in patients with sAlport and segmental and focal glomeruloesclerosis (FSGS). RESULTS: The incidence of IBC was higher in rural than urban areas, in contrast to the incidence of non-IBC. Breaking Down Data Siloes: New Analytics Platform Sparks Opportunity for Rare Disease Field. Before it conquered the world, Viagra was a failing angina drug, and its potential was almost missed. Authors: Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck and Holm Schneider, Citation: These genes, tumor suppressors, code for proteins involved in the synthesis of heparan sulfates. RESULTS: We assessed 13 patients (6 with sAlport and 7 with FSGS). 2021 16:378. Tunis, Tunisia, 3University of Tunis El Manar, Faculty of Medicine of Tunis. 16:343. In this study, we report on clinical, biochemical and molecular findings of two Tunisian siblings with Farber disease. A higher documented prevalence of Crohn's Disease in the Ashkenazim indicates that some enriched alleles may confer risk of having this disease. Orphanet is a European reference portal for information on rare diseases and orphan drugs. 2021 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency results in depletion of the brain neuro-transmitters serotonin and dopamine. 2021 2021 Authors: Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo…, Citation: In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Authors: Cornelia Wiechers, Regina Iffländer, Rieke Gerdes, Melissa Ciuffolotti, Jörg Arand, Christina Weise, Katharina Peters, Bärbel Grandke, Siegmar Reinert, Bernd Koos and Christian F. Poets, Citation: This new edition covers the legal and ethical issues of consent and assent, the additional legal and safety protections for children, and the appropriate methods of surveillance and assessment for children of varying ages and maturity, ... A searing account of how vaccine opponents have used the media to spread their message of panic, despite no scientific evidence to support them. At presentation it is important to characterize if the patient has fFSGS, that will contribute to further disease management, and disease history will be the first clue for such differential diagnosis. The 5th annual Rare Neurological Disease Special Report covers a wide range of topics related to rare neurological diseases. 16:376. Authors: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach…, Citation: 16:366. Barth syndrome (BTHS) is a rare genetic disorder commonly characterized by cardiomyopathy, muscle weakness, abnormal fatigability, and exercise intolerance. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. Covering both the social and scientific history of medicine, this 2006 volume traces the chronology of key developments and events, engaging with the issues, discoveries, and controversies that have characterized medical progress. Authors: Johannes Boettcher, Holger Zapf, Mareike Fuerboeter, Rojin Nazarian, Konrad Reinshagen, Silke Wiegand-Grefe and Michael Boettcher, Citation: Positive Trial Results for Experimental DMD Gene Therapy. Orphanet Journal of Rare Diseases Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). 2021 Additionally, JMJD3 has a dual effect on many types of cancers through binding to promoters of oncogenes or suppressor genes. The methodology is particularly well-suited for the case of rare diseases where few genetic samples are at disposal. In this mini-review we will compare three types of GA and their genotypes, symptoms, diagnosis, and treatments will be discussed briefly. Orphanet Journal of Rare Diseases 2021 Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Orphanet Journal of Rare Diseases International Journal of Rare Diseases & Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. Penn Medicine Researcher Who Found Treatment For His Own Rare Disease Hopes To Find Treatment For COVID-19With the growing number of COVID-19 cases, there's a big push to find better treatments. This review discusses clinical and molecular features of variants in AXL3 gene associated with Bainbridge-Ropers syndrome. Background: Fibrodysplasia Ossificans Progressiva (FOP) is an ultrarare disease, but the geographic distribution and regional prevalence of the condition are unknown. National Institute Mongi Ben Hmida of Neurology. Awareness of the features of these tumors, consideration of the possibility of metastasis and appropriate ancillary studies are the keys to the accurate diagnosis of these cases. 2021 Early diagnosis and treatment of ABL in the form of a low-fat diet and fat-soluble vitamin supplementation can mitigate neuropathy and retinopathy. The implementation of whole exome sequencing allows early identification and definitive diagnosis of patients with clinically unestablished phenotypes, as seen in AXL3 gene. 2021 To this end, ultrasound-guided approaches have been developed that allow appropriate intra-articular injection eliminating the risk of exposure to ionizing radiation entailed by fluoroscopy. 16:369. Tunis, Tunisia, 4Cancer Research Center of Toulouse, INSERM UMR1037 and Université Paul Sabatier, Toulouse, France, 5Laboratory of Metabolic Biochemistry, Federative Institute of Biology, CHU Purpan, Toulouse, France. Rare diseases are quite common, conversely. Interleukin-10 (IL-10) is an independent factor for predicting adverse outcomes in pediatric patients with hemophagocytic lymphohistiocytosis (HLH). Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. This practical text guides the reader in developing the necessary tools for teaching those patients with limited literacy skills. Instead, I want to focus only on unsolved ultra-rare diseases. JMJD3 can be strongly and quickly induced by various inflammatory stimuli and cellular stresses, and can enhance pro-inflammatory reactions as well as anti-inflammatory reactions by targeting diverse transcription factors in gene promoters and bodies. Huntington disease, ALS (Lou Gehrig disease), Tourette syndrome, and muscular dystrophy are among them. Authors: Naoki Iijima, Junji Yamauchi, Naoko Yagishita, Natsumi Araya, Satoko Aratani, Kenichiro Tanabe, Tomoo Sato, Ayako Takata and Yoshihisa Yamano, Citation: Orphanet Journal of Rare Diseases 2021 Metastatic carcinomas to the testis are extremely rare and have been reported only in autopsy series or case reports. 16:351. A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe. To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). New Treatments for Phenylketonuria Aim to Loosen Reins on Strict Diet. THE FOREVER FIX is the first book to tell the fascinating story of gene therapy: how it works, the science behind it, how patients (mostly children) have been helped and harmed, and how scientists learned from each trial to get one step ... September 4th 2021, 8:20am. Orphanet Journal of Rare Diseases Current standard-of-care is aimed at palliation of symptoms; there are no currently approved therapies to prevent HO. Glutaric acidurias are a group of OADs which have three major types with different genetic mutations affecting different metabolic enzymes. Authors: Jinshuo Tang, Pu Shao, Te Liu, Xinggui Wen, Yeliang Wang, Chenyu Wang, Yachen Peng, Hua Yao and Jianlin Zuo, Citation: It is characterized by the proliferation of bone protuberances, especially located in the metaphysis of long bones. Many people naturally assume that the claims made for foods and nutritional supplements have the same degree of scientific grounding as those for medication, but that is not always the case. When present, diameters of the parapelvic cysts were similar. Clinical and laboratory features that differentiate familial from sporadic focal segmental glomerulosclerosis in adolescents and adults, Maria Goretti Polito1, Michelle Tiveron Passos1, Danilo Euclides Fernandes1, Gianna Mastroianni-Kirsztajn2*, 1Department of Medicine (Nephrology), Federal University of São Paulo, São Paulo-SP, Brazil, 2Associate Professor of Medicine, Department of Medicine (Nephrology), Federal University of São Paulo, São Paulo-SP, Brazil. Study provides new hope for children suffering from rare muscle diseases. JmjC domain-containing protein D3 (JMJD3, also called KDM6B) specifically demethylates lysine 27 on histone H3 (H3K27me3), a repressive epigenetic mark, therefore modulating the expression of target genes. 2021

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