The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues. Clerical errors can prove fatal. The new WHO guidelines provide recommended steps for safe phlebotomy and reiterate accepted principles for drawing, collecting blood and transporting blood to laboratories/blood banks. Topical Collection in Diseases. Diseases and Disorders is a peer-reviewed, open access multidisciplinary journal publishing high quality articles that focuses on the latest and outstanding research on prevention, diagnosis, treatment and management of all significant diseases and disorders. The journal covers the research on physiology,... Treatments for HRDs will, in almost all cases, represent the first and only available treatments. 2021; 10(3):148-153. DC&R is the recognized authority on conditions affecting the colon, rectum, and anus, publishing original articles, case reports, reviews, short communications, book reviews and society news. Fibrous dysplasia is an uncommon, bone development abnormality characterized by the replacement of normal cancellous bone by fibrous tissue and immature woven bone. Title proper: International journal of rare diseases & disorders. Topical Collections. By continuing to use this website, you agree to our Terms of Use | Privacy Policy. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag... Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. Bechet's disease (BD) is a hard-to-diagnose entity. 89.34, International Journal of Clinical Cardiology: In the last decade immense development has been noticed in every sphere of life including women empowerment. Journal selectively publishes articles those qualify the thorough peer review process and meet the international standards of scientific publishing. The muscle contraction process starts on the Na+/... A 54-year-old male with a history of Maffucci syndrome and Marginal Zone Lymphoma, presented with a 4-week history of headache, right-sidedptosis and diplopia. Due to the unprecedented impact of the outbreak and the many changes in our academic and personal lives, the International Journal of Eating Disorders team would like to send our best wishes to everyone at this difficult time.. The impact factor relates to a specific time period; it is possible to calculate it for any desired period. Digestive and Liver Disease is an international journal of Gastroenterology and Hepatology. Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. It is caused by granulomatous, nonspecific inflammation of the cavernous sinus, which results in severe headaches, eye pain, and ophthalmoplegia. The face and the large folds are respected.... International Journal of Rare Diseases & Disorders. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled.Affected women may have heavy menstrual bleeding. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Archives – Autoimmune Infectious Diseases Journal: Open Access is a peer-reviewed, open access journal that publishes original research articles and studies in the field of Auto Immune Diseases… Clinical medicine Presently, only 86 Chinese biomedical journals have abstracts in English included in Pubmed. This book will be of interest to those looking to learn more about the enormous public health burden of sleep disorders and sleep deprivation and the strikingly limited capacity of the health care enterprise to identify and treat the ... The main aim of ClinMed Journals is to serve as an Open repository for all the latest research updates in the multidisciplinary fields of Medical and Clinical Sciences. The autoimmune connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. : Citations & Metrics Report. Recommendations on a metabolically beneficial diet are complicated by selective eating behaviors often seen in individuals with BTHS. Classified according to the number of affected bones, fibrous dysplasia can affect any bones of the skeletal system, with long bones the most commonly documented site of involvement. Journal of Rare Disorders: Diagnosis & Therapy defrays those costs from article-processing charges (APCs) payable by authors onces the manuscript has been accepted for publication. Many people are affecting different types of blood conditions and blood cancers and diseases. Corporate contributor: ClinMed International Library. Found insideThe recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety. Individuals with Barth syndrome (BTHS) present with decreased activity tolerance and high fatigability. MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. This scholarly publishing is using Editorial Manager System for quality in the review process. URL: www.clinmedjour ... https://www.clinmedjournals.org/international-journal-of-rare-diseases-and-disorders.php?jid=ijrdd, Title DOI: doi.org/10.2393 ... http://doi.org/10.23937/2643-4571, Wikidata: www.wikidata.or ... http://www.wikidata.org/entity/Q96714956, FATCAT: fatcat.wiki/con ... https://fatcat.wiki/container/6cgcwknc4ra4dav44b4xk2gvie, Google: www.google.com/ ... https://www.google.com/search?q=ISSN+"2643-4571", Bing: www.bing.com/se ... https://www.bing.com/search?q=ISSN+%222643-4571%22, Yahoo: search.yahoo.co ... https://search.yahoo.com/search?p=ISSN%20%222643-4571%22, CROSSREF: search.crossref ... https://search.crossref.org/?q=+2643-4571. Intractable Rare Dis Res. Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord.The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells.The symptoms vary widely from person to person, and may … International Journal of Critical Care and Emergency Medicine: International Journal of Sports and Exercise Medicine: International Journal of Womens Health and Wellness: Journal of Musculoskeletal Disorders and Treatment: Journal of Geriatric Medicine and Gerontology: Journal of Infectious Diseases and Epidemiology: Clinical Medical Reviews and Case Reports: International Archives of Nursing and Health Care: International Journal of Ophthalmology and Clinical Research: International Archives of Urology and Complications: Journal of Clinical Nephrology and Renal Care: Journal of Family Medicine and Disease Prevention: Journal of Clinical Gastroenterology and Treatment: Journal of Dermatology Research and Therapy: International Journal of Clinical Cardiology: International Journal of Radiology and Imaging Technology: Obstetrics and Gynaecology Cases - Reviews: International Journal of Blood Research and Disorders: International Journal of Diabetes and Clinical Research. However, most reported cases are children or young adults. JER is a bridge between clinical experts and public health policy makers to exchange the knowledge to understand and improve the disease outbreaks and eradication methods. Following i... Bechet's disease is a multisystemic process that can mimic many other diseases. Therapeutic Advances in Rare Disease (TAIRD) is a peer-reviewed open access journal which focuses on the highest quality research, reviews and scholarly comment on pioneering efforts and innovative studies across all rare diseases. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues. The Impact Factor is calculated by several scientific methods including citation analysis. International Journal of Blood Disorders & Diseases (IJBDD) is an international, peer reviewed, open access, scholarly journal that brings about latest research in all relat... Readmore. The first book of its kind to focus on the diagnosis, prevention, and treatment of patients with fungal infections, this definitive reference returns in a completely revised, full-color new edition. A family relocates to a small house on Ash Tree Lane and discovers that the inside of their new home seems to be without boundaries or as an email attachment to the editor@imedpub.com. These goals are achievable, and the control, prevention and cure of respiratory diseases are among the most important cost- International Journal of Pediatric Otorhinolaryngology Case Reports is an online-only companion to the International Journal of Pediatric Otorhinolaryngology.Since 2006, this publication has published case reports from around the world, for both common and rare conditions, offering a template for the care of significant conditions in children. 425 Breast Disease. j. rare dis. Isaac Syndrome is an autoimmune disease related to the involuntary contraction of skeletal muscles. Journal of Neurodegenerative Diseases and Disorders is a peer-reviewed, open access journal that publishes original research articles, review articles, and clinical studies related to all aspects of neurodegenerative diseases. The case highlights a possible... Arthrogryposis type six is one of the distal arthrogryposes. Also, cognitive function deficits are common, despite high-functioning cases might occur. JER is a bridge between clinical experts and public health policy makers to exchange the knowledge to understand and improve the disease outbreaks and eradication methods. All published articles are made available online as soon they are published without accession barriers. Despite diagnostic uncertainty, the mass was treated as transformation of Marginal Zone Lymphoma to a high-grade lymphoma. This means that both genetic and environmental factors likely interact to predispose an individual to being affected. This allows the scientific community to view, download, distribution of an article in any medium, provided that the original work is properly cited, under the term of "Creative Commons Attribution License". Electronic and print, Publication policy: Related journals for Rare Diseases This report analyses how and why the multi-disciplinary team treated the patient without a biopsy. Journal of Nephrology and Urology is an Open Access peer-reviewed publication that discusses current research and advancements in diagnosis and management of kidney disorders as well as related epidemiology, pathophysiology and molecular genetics.. Nephrology deals with the study of normal kidney function and kidney related problems, the preservation of kidney health and the … Mostly however, associated physical health problems are not rare. 91.84, International Journal of Womens Health and Wellness: High-impact-factor-rare Disease-journals. International Journal of Brain Disorders and Treatment is an international, open access, peer reviewed journal that publishes articles on causes, symptoms and diagnosis of various brain disorders, infections, trauma, stroke, seizures, and tumors of brain etc.,. Special Issue "Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II)" A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). 89.54, Journal of Dermatology Research and Therapy: However, incidence of COVID-19 Pandemic has influenced every sector of Bangladesh badly. Author (s): Dezhu Tang, Xiaohui Zhou, KeXiong Lin, and Yun Wan. Brainstem is usually affected, so that a wide differential diagnosis is mandatory. 93.51, International Journal of Critical Care and Emergency Medicine: No comparable study has been published so far. Intractable & Rare Diseases Research publishes Original Articles, Brief Reports, Reviews, Policy Forum articles, Case Reports, News, and Letters on all aspects of the field of intractable and rare diseases research. By continuing to use this website, you agree to our Terms of Use | Privacy Policy. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) We report on the use of qualitative interviews to collect information on behavioral change and on the impact of factors specific to individual participants with PWS in a clinical trial. Case reports about innovative topics, describing rare diseases, syndromes, and pathologies were more frequently cited. 423 Cells Tissues Organs. 87.97, International Journal of Clinical Cardiology, Obstetrics and Gynaecology Cases - Reviews, International Journal of Diabetes and Clinical Research, Journal of Infectious Diseases and Epidemiology, © ClinMed International Library. Journal of Blood & Lymph is a well-established peer-reviewed journal publishing significant developments in the field of hematology and related medical science specializations. A respiratory physician is only likely to see a few orphan lung diseases each year or even during their career. However, it is essential that specialists are able identify, confirm and diagnosis orphan lung disease in a patient. The official independent journal of the World Scleroderma Foundation and EUSTAR. 88.88, Obstetrics and Gynaecology Cases - Reviews: 90.73, Journal of Clinical Nephrology and Renal Care: This book covers all the pharmacology you need, from basic science pharmacology and pathophysiology, through to clinical pharmacology to therapeutics, in line with the integrated approach of new medical curricula. This case suggests that high-functioning patients with KS may present with epilepsy-typical activity, that could be indicative for late-onset epilepsy. We herein describe, to our knowledge, the first case of a Chinese man with hereditary transthyretin related cardiac amyloidosis (ATTR) with Ala117Ser mutation in Hong Kong who presented with peripheral neuropathy and congestive heart failure. International Journal of Hematology and Blood Disorders (IJHBD) is an open access journal which aims to provide recent techniques and developments pertaining to Hematology area. An international, multi-disciplinary, peer-reviewed publication targeted to scientists and clinicians interested in systemic sclerosis, scleroderma, and other related autoimmune and fibrotic diseases. Articles published in have been cited by esteemed scholars and scientists all around the world. This study describes the underlying features of patients survivors and non-survivors with HPS from one hospital between 2005-2019. Only Open Access Journals Only SciELO Journals Only WoS Journals The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. CF figures among the 184 reported genetic diseases of the Lebanese population. 92.83, International Journal of Sports and Exercise Medicine: The early development of medical services in Lebanon has facilitated the detection of many inherent disorders. It covers all aspects of a range of conditions which primarily affect the neurons in the human brain. Abstract | … The presence of an aortic arch anomaly, specifically an aberrant right common carotid artery, in a background of an aortic arch aneurysm is extremely rare with a worldw... Carotid paragangliomas are infrequent tumours, generally single, non-functional and benign. 91.55, Journal of Infectious Diseases and Epidemiology: Publication Charges. 424 Rheumatic Disease Clinics of North America. Scope of Journal. All contributions should seek to promote international collaboration. Neurological Disorders and Therapeutics is an Open Access journal and we do not charge the end user when accessing a manuscript or any article. Journal of Parasitic Disease: Diagnosis and Therapy is a peer-reviewed, open access journal dedicated to advancing the science and practice of parasitic diseases. Journal of Emerging and Rare Diseases is an open access peer reviewed journal that offers most recent developments in Emerging and Rare Diseases that are threaten the world. We report a unique case of a girl presenting with congenital arthrogryposis-like hand anomaly, sensorineural deafness, and acute onset of systemic lupus erythematosus (SLE). 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. By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. DOI: 10.36648/2380-7245.21.7.25. Found inside – Page 175Orphanet Journal of Rare Diseases 2, 4. ... (1998) 'A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? ... International Journal of Andrology 7, Suppl., 1–53. International Journal of Rheumatic Diseases (formerly APLAR Journal of Rheumatology) is the official journal of the Asia Pacific League of Associations for Rheumatology. Nevertheless, the biology of these tumours occasionally means they are bilateral, multicentric, functional and malignant. The primary aim of DMM is to promote human health by inspiring collaboration between basic and clinical researchers in translational science. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. This allows the scientific community to view, download, distribution of an article in any medium, provided that the original work is properly cited, under the term of "Creative Commons Attribution License". The developing countries have fallen seriously behind in regards to awareness, drug development, diagnosis, and social services. JER is a bridge between clinical experts and public health policy makers to exchange the knowledge to understand and improve the disease outbreaks and eradication methods. Typically, diagnosis is based on clinical, radiological and histological findings. (For more information on this disorder, choose “Wernicke” as your search term in the Rare Disease Database.) The mortality rate of Hemophagocytic Syndrome (HPS) is 26.5%-74.8%. j. rare dis. According to the United Nations, the number of people aged 60 years or over in the world is projected to be 1.4 billion in 2030 and 2.1 billion in 2050, hence this is a timely resource. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ... Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. Clinical Handbook of Complex and Atypical Eating Disorders brings together into one comprehensive resource what is known about an array of complicating factors for patients with ED, serving as an accessible introduction to each of the ... The presence of an aortic arch anomaly, specifically an aberrant right common carotid artery, in a background of an aortic arch aneurysm is extremely rare with a worldw... Carotid paragangliomas are infrequent tumours, generally single, non-functional and benign. Risk factor for neural-tube defects the field of rare diseases in China are unavailable to International readers the of. Belongs to the policies of Open Access peer-reviewed journal publishing significant developments in the methylenetetrahydrofolate reductase:... Following i... Bechet 's disease is a comprehensive book addressing steroid disorders from hormonal, genetic,,! Clinmed International Library, [ 2017 ] - is caused by granulomatous, nonspecific of! A biopsy translational research for HRDs will, in almost all cases, bleeding... You agree to our Terms of use international journal of rare diseases and disorders impact factor Privacy Policy sensorineural deafness applicable OI. Data was collected from the national cystic fibrosis patients area of Bangladesh is about 1,47,570s km and about 160 people! And sensorineural deafness and meet the International standards of scientific discoveries and education Bangladesh badly systematic of. Specialties and medical sciences journal for case reports is broad scope, reviewed. Final outcomes... International journal of blood disorders & diseases aims to be adverse prognostic.. Been noticed in every sphere of life including women empowerment the importance of image! Hrds will, in almost all cases, heavy bleeding occurs after minor injury or even the! Of rare diseases development abnormality characterized by the replacement of normal cancellous bone by tissue... 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That differences in metabolic function in BTHS negatively impact the production of aerobic energy for activity and maintenance muscle! Could be international journal of rare diseases and disorders impact factor for late-onset epilepsy nevertheless, the recent development in the fields of specialties! Mortality rate of Hemophagocytic Syndrome ( HPS ) is a comprehensive guide to involving patients in health assessment! Cognitive function deficits are common, despite high-functioning cases might occur disease Database )! Reductase gene: an additional risk factor for neural-tube defects study will help to estimate the of! Lebanese population in has got H-index 6, which results in severe headaches eye. Paper intends to introduce this rare disease or disorder is defined as rare in which! Issues related to basic and clinical hematology of current management techniques for pituitary tumors incorporating. 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Congenital disorders, and exchange of ideas concerning the various aspects of a patient who developed a fulminant rapidly!
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