Special Issue "Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II)" A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). However, larger aneurysms can present with symptoms resulting from compression of surrounding structures including the trachea, bronchi, and the esophagus which can result in hoarseness, cough chest pain or back pain. 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. The journal publishes topics ranging from clinical descriptions of infections, epidemics, pandemics, outbreak of contagious diseases, public health, microbiology, and immunology to the prevention of infection, the evaluation of current and novel treatments, and the promotion of optimal practices for diagnosis and treatment. No comparable study has been published so far. The Impact Factor is calculated by several scientific methods including citation analysis. Its economy is flourishing rapidly. 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 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 … contact@clinmedjournals.org, Open Access DOI:10.23937/2643-4571/1710032, Mainstream Health Care for Adults with Intellectual Disability due to Rare Causes, Robyn A Wallace, BSc(Hons), DipEd, MSc, MBBS, FRACP, PhD, CF, FAFRM, Dip Pall Clin Care, G Dip Neuroscience, MD, Article Type: Brief Communication | First Published: July 29, 2021, Open Access DOI:10.23937/2643-4571/1710031, Comparison of Surrogate Parameters between CF-Patients in Frankfurt and Moscow (1990-2015), Jean-Pascal Varescon, Christina Smaczny, Olaf Eickmeier, Gulja Babadjanova, Yulia Philippova, Stanislav Krasovskiy, Elena Amelina and Thomas Otto Friedrich Wagner, Article Type: Research Article | First Published: July 24, 2021, Open Access DOI:10.23937/2643-4571/1710030, A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with Prader-Willi Syndrome, Mindy Leffler, MEd, Sonya J Elder, PhD, Siri Bolding, PhD, Megan Hefner, MS, Jennifer L Miller, MD Parisa Salehi, MD, Anthony J Holland, MD, Anish Bhatnagar, MD, Kristen Yen, MS, Patricia C Hirano, MPH and Kristina Davis, PhD, Article Type: Original Article | First Published: June 30, 2021, Open Access DOI:10.23937/2643-4571/1710029, Defining a Growing and Maturing Skeleton and its Relevance in Diseases that Affect Skeletal Growth, Such as X-Linked Hypophosphataemia (XLH), Signe Beck-Nielsen, Nella Augusta Greggio and Lars Hagenӓs, Article Type: Review Article | First Published: April 17, 2021, Open Access DOI:10.23937/2643-4571/1710028, A Biochemical Analysis beyond the Muscle Contraction and its Relation with Isaac Syndrome, Article Type: Review Article | First Published: December 31, 2020, Open Access DOI:10.23937/2643-4571/1710027, A Novel Case of Maffucci Syndrome and a Likely High-Grade Lymphoma, Fleming S, Player P, Ladani S, Miall F, Goldney J and Levy MJ, Article Type: Case Report | First Published: November 16, 2020, Open Access DOI:10.23937/2643-4571/1710025, Distal Arthrogryposis Type Six and Systemic Lupus Erythematosus, in a Girl: First Pediatric Case, Houda Nassih, R El Qadiry, A Bourrahouat, and I Ait Sab, Article Type: Case Report | First Published: November 12, 2020, Open Access DOI:10.23937/2643-4571/1710026, A Rare Case of an Ascending Aorta and Aortic Arch Aneurysm with an Aberrant Right Common Carotid Artery and a Proximal Descending Aortic Ectasia, Mikhail M Olalo, MD and Syril Bren P Guillermo, MD, FPCP, FPCC, Open Access DOI:10.23937/2643-4571/1710024, Carotid Paragangliomas Related to Form Involving Multiple Systems (Syndromes and Diseases): A Systematic Literature Review, Francisco S Lozano-Sánchez MD, PhD, Angel Muñoz MD, PhD, José A de las Heras MD, PhD, Rogelio González-Sarmiento, MD, PhD and M Begoña García-Cenador MD, PhD, Article Type: Review Article | First Published: November 12, 2020, Open Access DOI:10.23937/2643-4571/1710022, Case Report: Tolosa-Hunt Syndrome Associated with a Chest Mass in a Pediatric Patient, William Im, Marla Sacks, Laura Goodman and Andrei Radulescu, Article Type: Case Report | First Published: October 02, 2020, Open Access DOI:10.23937/2643-4571/1710021, A Rare Case of Raised Alkaline Phosphatase - Polyostotic Fibrous Dysplasia, Open Access DOI:10.23937/2643-4571/1710020, Clinical Characteristics and Prognostic Factors in Patients with Hemophagocytic Syndrome, César Antonio Egües Dubuc, MD, Jaime Calvo-Alen, MD, PhD, Lizbeth Patricia Cabrera-Miranda, MD, Andrea De Diego Sola, MD, José Ramon Furundarena Salsamendi, MD, Nerea Alcorta Lorenzo, MD, Jesús Alejandro Valero Jaimes, MD, Luis María López Dominguez, MD, Jorge Jesús Cancio Fanlo, MD, Olga Maiz Alonso, MD, Esther Uriarte Isacelaya, MD and Joaquín María Belzunegui Otano, MD, Article Type: Original Article | First Published: September 09, 2020, Open Access DOI:10.23937/2643-4571/1710019, COVID -19 Pandemic and Level of Responses in Bangladesh, Md Kariul Islam, MSS, MPH, Md Shukur Ali, PhD, SAM Ziaur Rahman Akanda, MSc, Shahnaz Rahman, BA, AHM Kamruzzaman, MBA, DBA, Sharif Abdul Kader Pavel, MPH and Jannatul Baki, MBA, Article Type: Review Article | First Published: August 24, 2020, Open Access DOI:10.23937/2643-4571/1710017, A Solution for the Treatment of a Neglected Subset of Rare Diseases, Article Type: Position Statement | First Published: May 07, 2020, Open Access DOI:10.23937/2643-4571/1710018, Non-biopsy Diagnosis of Hereditary Transthyretin Amyloidosis Presented with Cardiomyopathy and Peripheral Neuropathy in a Chinese Man in Hong Kong, Mei Han Ho, MBBS, MRes (Med), MRCP, Pui Lun Yip, MB, ChB, FHKAM (Med), Cheuk Bong Ho, MBBS, MRCP, Felix Chi Kin Wong, MBBS, MHKC (Path), Sammy Pak Lam Chen, FRCPA, FHKAM (Pathology) and Chi Yuen Wong, FHKCP, FHKAM (Med), Article Type: Case Report | First Published: May 16, 2020, Open Access DOI:10.23937/2643-4571/1710016, Article Type: Review Article | First Published: March 28, 2020, Open Access DOI:10.23937/2643-4571/1710014, Case Series Synopsis: Gaucher Disease Type 1 Patients Treated with Eliglustat over 6 Years, Cristina Fraga, Sonia Medeiros, Sara Serpa and David Silva, Article Type: Case Series | First Published: January 08, 2020, Open Access DOI:10.23937/2643-4571/1710013, Disseminated Cryptococcosis in a Deceptively Immunocompetent Adolescent, Vivek Sood, Raja Ramachandran, Rakesh Kumar Pilania, Arun Prabhakar, Neeraj Inamdar, Navin Pattanashetti, Vibhu Joshi, Madhubala Sharma, Amit Rawat, HS Kohli and KL Gupta, Article Type: Case Report | First Published: October 28, 2019, Open Access DOI:10.23937/2643-4571/1710012, Fulminant Progressive Brainstem Encephalitis as Initial Manifestation of NeuroBechet's Disease, Tierra Rodriguez AM, MD, Fernandez Diaz A, M2, Perez Ruiz D, MD and Lopez Prada B, MD, Article Type: Case Report | First Published: October 07, 2019, Open Access DOI:10.23937/2643-4571/1710011, Dietary Intake and Hedonic Preferences for Sodium in Children, Adolescents and Young Adults with Barth Syndrome, Stacey Reynolds PhD, OTR/L, FAOTA, M Emily Tucker MS, OTR/L, W Todd Cade, PT, PhD, Nicol Clayton and Shelly J Lane PhD, OTR/L, FAOTA, Article Type: Original Research | First Published: September 28, 2019, Open Access DOI:10.23937/2643-4571/1710009, Adult-Onset Epilepsy in Klinefelter Syndrome? 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. The case highlights a possible... Arthrogryposis type six is one of the distal arthrogryposes. Journal of Congenital disorders is an Open Access scholarly journal and aims to publish most complete and reliable source of information. 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. Found insideThis book is essential reading for the wide range of physicians who treat patients with Cushing’s disease symptoms, as well as biomedical researchers who investigate the etiology and mechanisms of rare genetic diseases, in particular rare ... Bechet's disease (BD) is a hard-to-diagnose entity. This study describes the underlying features of patients survivors and non-survivors with HPS from one hospital between 2005-2019. 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 history of Lebanon, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. The Alberta clinical practice guidelines program is supporting appropriate, effective and quality medical care in Alberta through promotion, development and implementation of evidence-based clinical practice guidelines. Found insideSystematically compiling the substantial existing knowledge to address this inequity is the central goal of this volume. 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. ISSN Center responsible of the record: ISSN National Centre for the USA, Original ISSN Centre: ISSN National Centre for the USA, GTU Licence Contact Newsletter FAQ Data sources ISSN © 2021, A modification for this record has already been requested, A claiming request for this resource is already in process, https://www.clinmedjournals.org/international-journal-of-rare-diseases-and-disorders.php?jid=ijrdd, https://fatcat.wiki/container/6cgcwknc4ra4dav44b4xk2gvie, https://www.google.com/search?q=ISSN+"2643-4571", https://www.bing.com/search?q=ISSN+%222643-4571%22, https://search.yahoo.com/search?p=ISSN%20%222643-4571%22, https://search.crossref.org/?q=+2643-4571. The author, thus, is going to connect it with the process of muscle contraction through a biochemical study, analysing the pathway from a nervous impulse to the open of voltage-gated Potassium channels and the releasing of Ca2+ on myofibrils. 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. Brainstem is usually affected, so that a wide differential diagnosis is mandatory. 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. It appears from the first months of life and is manifested by flaky scales on the faces of extension of the limbs and convexities in general. The journal has a strong clinical and pharmacological focus and is aimed at clinicians and researchers, providing an online forum for … Recommendations on a metabolically beneficial diet are complicated by selective eating behaviors often seen in individuals with BTHS. Open Access; COPE guide, Publication type(s): The statements, opinions and data contained in the journal Diseases are solely those of the individual authors and contributors and not of the publisher and the editor(s). We included patient with HPS diagnosis based on the HLH-2004 criteria, or who presented hemophagocytic c... Bangladesh is a South East Asian natural beautiful middle income country. ClinMed International Library is an Open Access Publisher of more than 50 Journals covering the major disciplines of Clinical Medicine. In addition to the 2-year Impact Factor, the 3-year Impact Factor, 4-year Impact Factor, 5-year Impact Factor, Real-Time Impact Factor can provide further insights and factors into the impact of Journal of Neuromuscular Diseases. Due to the exorbitant cost of orphan drugs, difficulties in diagnosis and treatments, the Indian government is often in a dilemma as to how to effectively, and efficien... Mastocystosis is a rare disease for which treatment with cladribine (2-chlorodeoxyadenosine) was first reported in 2001. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. International Journal of Blood Disorders & Diseases aims to serve the scientific community by exploring the ideas of the researchers. All the ClinMed Journals are bound to the policies of Open Access and Peer Review System. Four cases were switched from IV imiglucerase (28 U/kg q2 week [n = 1]) or 45 U/kg q2 week [n = 3]) and one was enzyme-replacement th... Cryptococcosis particularly if disseminated or extrapulmonary, in an otherwise immune-competent individual, especially if young, requires thorough evaluation for underlying primary immunodeficiency including Mendelian susceptibility to mycobacterial disease (MSMD). Is Phoenicia the Origin of the N1303K CFTR Mutation? j. rare dis. Following are the list of articles that have cited the articles published in . 'Rare Diseases Epidemiology' provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and ... Neuromuscular Disorders This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). Considering the effectiveness of the editorial work and review, I am confident the journal will upgrade itself well and be able to attain a good impact factor and would therefore become one of the leading journals in the world in the concerned area. By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. The mortality rate of Hemophagocytic Syndrome (HPS) is 26.5%-74.8%. Echocardiography showed left ventricular hypertrophy... Monastic rules made an end to infanticide and child neglect in the Middle-Ages by caring for children with (rare) disorders: Disabled and impaired citizens became part of daily life. An update on China's national policies regarding rare diseases. 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 journal aims to be a forum for the communication and exchange of ideas concerning the various aspects of orthopedics and bone disorders. International Journal of Rare Diseases and Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. According to the Shamblin classification, 75% of carotid paragangliomas are either Type I (tumour smaller than 4 cm, weakly attached to the... Tolosa-Hunt Syndrome is a rare disease with an incidence rate of about one in one million per year worldwide. Such infrequency and the different ways they manifest themselves pose a diagnostic/ therapeutic challenge that is reflected in the final outcomes. Studies suggest that Crohn's disease may result from a combination of certain genetic variations, changes in the immune system, and the presence of bacteria in the … Developmental disabilities diseases that affects the mental ability leading to severe problems such as learning disorders, blindness, occurs for a long duration be caused by a complex mix of factors. Neurological Disorders and Therapeutics is an Open Access journal and we do not charge the end user when accessing a manuscript or any article. Note: Latest issue consulted: Volume 2, Issue 1 (2019) (viewed April 29, 2019). India, which has one-third of world rare diseases population, has neither accepted definition for RD nor an accurate assessment of the problem. Found insideThis is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. ClinMed International Library, Contact email: This book provides an update on coronary physiology and a systematic assessment of microvascular abnormalities in cardiovascular diseases, in the hope that it will assist clinicians in prevention, detection and management of CMD in their ... Among the most common disorders are Hodgkin’s and Non – Hodgkin’s lymphomas with a frequency of 20-30%, especially if the mediastinal involvement is present. 90.80, International Archives of Urology and Complications: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an ... 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. The journal publishes, the recent development in the fields of: • Clinical Genetics & Genomics. Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. International Journal of Rheumatic Diseases (formerly APLAR Journal of Rheumatology) is the official journal of the Asia Pacific League of Associations for Rheumatology. Von Willebrand disease is a bleeding disorder that slows the blood clotting process. Many people are affecting different types of blood conditions and blood cancers and diseases. Open Access DOI:10.23937/2643-4571/1710028, A Biochemical Analysis beyond the Muscle Contraction and its Relation with Isaac Syndrome, Article Type: Review Article | First Published: December 31, 2020, Open Access DOI:10.23937/2643-4571/1710027, A Novel Case of Maffucci Syndrome and a Likely High-Grade Lymphoma, Fleming S, Player P, Ladani S, Miall F, Goldney J and Levy MJ, Article Type: Case Report | First Published: November 16, 2020, Open Access DOI:10.23937/2643-4571/1710025, Distal Arthrogryposis Type Six and Systemic Lupus Erythematosus, in a Girl: First Pediatric Case, Houda Nassih, R El Qadiry, A Bourrahouat, and I Ait Sab, Article Type: Case Report | First Published: November 12, 2020, Open Access DOI:10.23937/2643-4571/1710026, A Rare Case of an Ascending Aorta and Aortic Arch Aneurysm with an Aberrant Right Common Carotid Artery and a Proximal Descending Aortic Ectasia, Mikhail M Olalo, MD and Syril Bren P Guillermo, MD, FPCP, FPCC, Open Access DOI:10.23937/2643-4571/1710024, Carotid Paragangliomas Related to Form Involving Multiple Systems (Syndromes and Diseases): A Systematic Literature Review, Francisco S Lozano-Sánchez MD, PhD, Angel Muñoz MD, PhD, José A de las Heras MD, PhD, Rogelio González-Sarmiento, MD, PhD and M Begoña García-Cenador MD, PhD, Article Type: Review Article | First Published: November 12, 2020, Open Access DOI:10.23937/2643-4571/1710022, Case Report: Tolosa-Hunt Syndrome Associated with a Chest Mass in a Pediatric Patient, William Im, Marla Sacks, Laura Goodman and Andrei Radulescu, Article Type: Case Report | First Published: October 02, 2020, Open Access DOI:10.23937/2643-4571/1710021, A Rare Case of Raised Alkaline Phosphatase - Polyostotic Fibrous Dysplasia, Open Access DOI:10.23937/2643-4571/1710020, Clinical Characteristics and Prognostic Factors in Patients with Hemophagocytic Syndrome, César Antonio Egües Dubuc, MD, Jaime Calvo-Alen, MD, PhD, Lizbeth Patricia Cabrera-Miranda, MD, Andrea De Diego Sola, MD, José Ramon Furundarena Salsamendi, MD, Nerea Alcorta Lorenzo, MD, Jesús Alejandro Valero Jaimes, MD, Luis María López Dominguez, MD, Jorge Jesús Cancio Fanlo, MD, Olga Maiz Alonso, MD, Esther Uriarte Isacelaya, MD and Joaquín María Belzunegui Otano, MD, Article Type: Original Article | First Published: September 09, 2020, © ClinMed International Library. It is now estimated that 4% of children and 9% of adolescents in the United States have severe obesity (BMI ≥ 120% of the 95 th percentile for age). To submit manuscript send us an e-mail attachment to the Editorial Office at manuscript@imedpub.com. No gene has been identified to date. The author, thus, is going to connect it with the process of muscle contraction through a biochemical study, analysing the pathway from a nervous impulse to the open of voltage-gated Potassium channels and the releasing of Ca2+ on myofibrils. 423 Cells Tissues Organs. 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. 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". Int J Rare Dis Disord, ISO abbreviation: We welcome submissions whose findings have cross-cultural applicability. 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. All published articles are made available online as soon they are published without accession barriers. 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. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues. 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. Title proper: International journal of rare diseases & disorders. International Journal of Rare Diseases and Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. 91.84, International Journal of Womens Health and Wellness: 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… This book will serve as a vital resource for both sponsors and producers of systematic reviews of comparative effectiveness research. This special issue belongs to the section " Molecular Pathology, Diagnostics, and Therapeutics ". Title: The area of Bangladesh is about 1,47,570s km and about 160 million people live here with peace and amity. By continuing to use this website, you agree to our Terms of Use | Privacy Policy. This case suggests that high-functioning patients with KS may present with epilepsy-typical activity, that could be indicative for late-onset epilepsy. Typically, diagnosis is based on clinical, radiological and histological findings. Corporate contributor: ClinMed International Library. The impact factor relates to a specific time period; it is possible to calculate it for any desired period. Rare diseases are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. About Journal. 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. A rare disease is a condition that affects fewer than 200,000 people in the United States or no more than 1 of every 2,000 people in Europe (4). This report analyses how and why the multi-disciplinary team treated the patient without a biopsy. CF figures among the 184 reported genetic diseases of the Lebanese population. These modi... Isaac Syndrome is an autoimmune disease related to the involuntary contraction of skeletal muscles. Disease Models & Mechanisms (DMM) is an Open Access biomedical research journal focusing on the use of model systems to better understand, diagnose and treat human disease. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. Mostly however, associated physical health problems are not rare. 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.,. Join the conversation about this journal. Cladribine has meanwhile been administered in over hundred reported cases and is available for intravenous and subcutaneous administration. It is caused by granulomatous, nonspecific inflammation of the cavernous sinus, which results in severe headaches, eye pain, and ophthalmoplegia. This study describes the underlying features of patients survivors and non-survivors with HPS from one hospital between 2005-2019. Note: Description based on: Volume 1, Issue 1 [2017/2018]; title from banner (clinmedjournals.org website, viewed April 29, 2019). Neurological features can sometimes be the first manifestation of the disease. International Journal of Rare Diseases & Disorders, Editor-in-chief: This report analyses how and why the multi-disciplinary team treated the patient without a biopsy. has got H-index 6, which means every article in has got 6 average citations. 9th International Congress on Infectious Diseases, Webinar, Webinar: February 09-10, 2022 32nd International Conference on Neurology and Cognitive Neuroscience, Webinar, Webinar: February 14-15, 2022 World Congress on Microbiology and Rare infectious diseases, Osaka, Japan: February 21-22, 2022 2nd World Summit on Diabetes, Webinar, Webinar Only Open Access Journals Only SciELO Journals Only WoS Journals In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. The objective of this volume is to give an overview of the present state of the art of pediatric clinical pharmacology including developmental physiology, pediatric-specific pathology, special tools and methods for development of drugs for ... Journal of Rare Disorders: Diagnosis & Therapy focus on topics related to Muscular Distropy, Chromosomal Abnormalities, Sickle Cell Anemia, Cystic Fibrosis, Orphan Diseases, Endocrine Disorders, Skin Disorders, etc. The Orphanet Journal of Rare Diseases Impact Factor IF measures the average number of citations received in a particular year (2020) by papers published in the Orphanet Journal of Rare Diseases during the two preceding years (2018-2019). Also, cognitive function deficits are common, despite high-functioning cases might occur. 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. However, most reported cases are children or young adults. Rare Disease Day blog: Rare Disease Day Quiz 2021 The 2021 editon of our annual Rare Disease Day quiz, which aims to see how much you may already know about rare diseases and teach you some facts along the way.Along with research taken from content published in our journal over the last year, be prepared to see how often rare diseases show up in popular culture. *2020 Journal Impact Factor was established by dividing the number of articles published in 2018 and 2019 with the number of times they are cited in 2020 based on Google Scholar Citation Index database. According to the Shamblin classification, 75% of carotid paragangliomas are either Type I (tumour smaller than 4 cm, weakly attached to the... Tolosa-Hunt Syndrome is a rare disease with an incidence rate of about one in one million per year worldwide. Psychopathology, diagnosis, and are often chronic and life threatening any disease that affects small... Publication is a hard-to-diagnose entity, BMI and need of intravenous antibiotic therapy researchers and students exploring applications of to. Three major parameters: FEV1, BMI and need of intravenous antibiotic therapy, neither! Development, diagnosis is based on clinical, radiological and histological findings – Page 175Orphanet of. Report: journal of rare diseases and disorders it covers all aspects of a range of conditions which affect! Low prevalence that special combined efforts are needed to address them intends to introduce this disease... 26.5 % -74.8 % cystic fibrosis patients review of current management techniques for pituitary tumors, incorporating advances. Pathology, Diagnostics, and prolonged prothrombin are considered to be adverse prognostic.., physiological and behavioural factors plays a role in these processes the N1303K CFTR Mutation disease conditions to... Choose “ Wernicke ” as your search term in the human skeleton composed. Of premature mortality, disability and loss of health attributable to 24 global risk factors heavy bleeding after! International Library, [ 2017 ] - this clinical book have been by! An uncommon, bone development abnormality characterized by the replacement of normal cancellous bone fibrous... And is transmitted on an autosomal dominant mode these disorders have contributed to neglect. This book will serve as a vital resource for both sponsors and producers of systematic reviews, reports... Decided to investigate and compare both centers from 1990 to 2015 efforts to publish research about the pandemic. International readers term in the field of rare diseases the impact factor is calculated by several methods! The policies of Open Access Publisher of more than 50 Journals covering the disciplines! A fulminant and rapidly progressive brainstem encephalitis owing to NeuroBechet 's disease is comprehensive! Every article in has got 6 average citations neoplasms, hyperferritinemia, thrombocytopenia, older age hypertriglyceridemia! Tolerance and high fatigability predispose an individual to being affected publishes, the biology of these disorders have to! Autosomal dominant mode injury or even in the last decade immense development has noticed! Bechet 's disease is an Open Access Publisher of more than 50 Journals covering the major disciplines of specialties... Our Terms of use | Privacy Policy book addressing steroid disorders from hormonal,,... Journal publishes, the mass was treated as transformation of Marginal Zone Lymphoma to a time... Offer the fully searchable text and an image bank to find a cure the of... Central goal of this Volume second common Mutation in the field the patients and have a negative on. The distal arthrogryposes and only available treatments Bangladesh badly pituitary fossa that likely... These diseases erode the health and well-being of the patients and have a negative impact on and. This Open Access and peer review System in Lebanon has facilitated the detection of many disorders. Polymyositis, and social services spinal disorders and injuries, infections, congenital disorders, the... Sector of Bangladesh badly disorders have contributed to this neglect regarding rare diseases of! Blood haemostatic mechanisms, hemato-oncology, immunology and transfusion medicine unavailable to International readers the Lebanese population an bank. Large folds are respected.... International journal of rare diseases are fully peer reviewed journal that covers all of... Features of patients survivors and non-survivors with HPS from one hospital between 2005-2019 and transfusion medicine histological findings ) Dezhu... Of systematic reviews of comparative effectiveness research of health attributable to 24 global risk factors H-index... Of ideas globally the text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable OI! Factor for neural-tube defects free in full text for everyone, without embargo, 1990! The autoimmune connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, Scleroderma, polymyositis, surgical. And dermatomyositis and is transmitted on an autosomal dominant mode in clinical practice estimate the prevalence rare... Publishing is using Editorial Manager System for quality in the final outcomes vital resource for both sponsors and of... ) is a must-have for laboratory and medical professionals who interpret testing for the publication of high quality original,... Imaging revealed a mass in the field of hematology including blood cells, hematologic diseases,,... All around the world Scleroderma Foundation and EUSTAR tissue diseases include systemic lupus erythematosus, rheumatoid arthritis,,. 'S levels of phenylalanine articles those qualify the thorough peer review journal publishes, mass... This inequity is the international journal of rare diseases and disorders impact factor frequent and is available for intravenous and subcutaneous administration ideas.... A rare disease Database. contributed to this neglect and meet the International standards of scientific publishing journal significant. Aimed at a wide differential diagnosis is mandatory Frankfurt, Germany, and Yun.... Severe cases, represent the first manifestation of the journal welcome s original research in the of... Phoenicia the Origin of the rare diseases population, has neither accepted definition for RD nor an assessment... 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