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. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues.

Journal selectively publishes articles those qualify the thorough peer review process and meet the international standards of scientific publishing. All published articles are made available online as soon they are published without accession barriers. The journal invites original, reviews, cases and other type of articles including but not limited to the areas of allergic and immunologic disorders, benign neoplasms, cancers, cardiac and vascular conditions, endocrine and metabolic disorders, gastroenterologic conditions, hematologic disorders, infectious diseases, musculoskeletal conditions, neurologic conditions, ophthalmologic conditions, pediatric diseases, rheumatologic disorders, skin and soft tissue conditions, etc.

 
Journal Information

Title: International Journal of Rare Diseases & Disorders

ISSN: 2643-4571

Editor-in-chief: Sylvia Lee-Huang

NLM title abbreviation: Int J Rare Dis Disord

ISO abbreviation: Int J Rare Dis Disord

Other titles: IJRDD

Category: Rare Diseases

DOI: 10.23937/2643-4571

Peer review: Double blind

Review speed: 3 weeks

Fast-track review: 10 days

Publication format (s): Electronic and print

Publication policy: Open Access; COPE guide

Publication type(s): Periodicals

Publisher: ClinMed International Library

Country of publication: USA

Language: English

Contact email: contact@clinmedjournals.org

 
Articles Search by   Keyword   |   Journal title   |   Author name   |   DOI

 

 Open Access DOI:10.23937/2643-4571/1710017

A Solution for the Treatment of a Neglected Subset of Rare Diseases

Grant E Fisher

Article Type: Position Statement | First Published: May 07, 2020

Individual HRDs are made up of small patient populations, thus the high individual prices will amount to a relatively small total cost to insurers and the healthcare system overall. Treatments for HRDs will, in almost all cases, represent the first and only available treatments. As the collective price will not be problematic and with treatments being the first available, insurers will have an incentive to cover the prices necessary to develop and commercialize these therapies....
 

 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

Amyloidosis is a rare disease characterized by deposition of misfolded amyloid protein, which commonly affects myocardium, nerves, kidneys and various organs. The clinical presentation is highly variable. 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. Echocardiography showed left ventricular hypertrophy...
 

 Open Access DOI:10.23937/2643-4571/1710016

Rare Diseases in Mediaeval Europe

Dooms M

Article Type: Review Article | First Published: March 28, 2020

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. Historic, paleo-pathological, iconographic and genetic research revealed several cases of acromegaly, achondroplasia, alpha-1-antitrypsin deficiency, cystic fibrosis, Down syndrome, Dupuytren’s contraction, goiter, Marfan syndrome, Paget’s disease and phenylketonuria. These observations want to illustrate that d...
 

 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

Gaucher disease (GD) type 1 is a lysosomal storage disorder associated with bone disease, hepatosplenomegaly, anemia and thrombocytopenia. Here we present a case series from 5 (3 females and 2 males) Portuguese individuals from a single institution with GD type 1 who were treated with substrate-reduction therapy (eliglustat, 84 mg once or twice daily) for 6-years. 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...
 

 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

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). In this context, we describe an adolescent diagnosed with disseminated cryptococcosis involving skin, lymph nodes, spleen and hepato-biliary involvement with reduced IL-12β1 receptor expression suggesting underlying MSMD. Following i...
 

 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

Bechet's disease is a multisystemic process that can mimic many other diseases. Neurological features can be its first-onset symptoms. Brainstem is usually affected, so that a wide differential diagnosis is mandatory. We report the case of a patient who developed a fulminant and rapidly progressive brainstem encephalitis owing to NeuroBechet's disease. Bechet's disease (BD) is a hard-to-diagnose entity. Neurological features can sometimes be the first manifestation of the disease. Its symptoms c...
 

 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

Individuals with Barth syndrome (BTHS) present with decreased activity tolerance and high fatigability. Recent evidence suggests that differences in metabolic function in BTHS negatively impact the production of aerobic energy for activity and maintenance of muscle mass. Recommendations on a metabolically beneficial diet are complicated by selective eating behaviors often seen in individuals with BTHS. While known to be selective eaters with a preference for salty foods, there is limited evidenc...
 

 Open Access DOI:10.23937/2643-4571/1710009

Adult-Onset Epilepsy in Klinefelter Syndrome? Cognitive and Neurophysiological Evaluation of a 56-Year-Old Man

Yvonne Holler Adriana Sciarrone, Aljoscha Thomschewski and Nathalie Gerner

Article Type: Case Report | First Published: September 06, 2019

Klinefelter syndrome (KS) is one of the most common sex chromosome abnormalities and several cases are documented where children with KS present with epilepsy. Also, cognitive function deficits are common, despite high-functioning cases might occur. However, most reported cases are children or young adults. This case suggests that high-functioning patients with KS may present with epilepsy-typical activity, that could be indicative for late-onset epilepsy. Diagnostic means of routine EEG can be ...
 

 Open Access DOI:10.23937/2643-4571/1710008

Baseline Knowledge of Rare Diseases in India - A Survey

Agrawal RK, Amaresh Rao M, Brian M, Chowdary GKB, Gayatri K, Krishnaji Rao M, Sambasiva Rao P, Namineni S, Srinivasa Rao N, Sikri BR, Syed S, Gawron S, Agarwal DR, Lakshmi K and Ramaiah Muthyala

Article Type: Original Research | First Published: August 29, 2019

Recently, rare diseases have received worldwide attention. The developing countries have fallen seriously behind in regards to awareness, drug development, diagnosis, and social services. India, which has one-third of world rare diseases population, has neither accepted definition for RD nor an accurate assessment of the problem. 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...
 

 Open Access DOI:10.23937/ijrdd-2017/1710007

Cladribine in the Treatment of Systemic Mastocytosis, a Review of the Literature

Marlies EHM and Van Hoef, MD, Phd, MBA

Article Type: REVIEW ARTICLE | First Published: March 07, 2019

Mastocystosis is a rare disease for which treatment with cladribine (2-chlorodeoxyadenosine) was first reported in 2001. Cladribine has meanwhile been administered in over hundred reported cases and is available for intravenous and subcutaneous administration. Cladribine has mainly been used in systemic mastocytosis and in larger series responses were obtained in over 50% of cases in which treatment with H1/H2 blockers, interferon or tyrosine kinase inhibitors did not induce a response. Literatu...
 

 Open Access DOI:10.23937/ijrdd-2017/1710006

Is Phoenicia the Origin of the N1303K CFTR Mutation?

Raed Farhat, Marie Claude Pasquet, Sandra Corbani, Andre Megarbane, Alain Kitzis and Veronique Ladeveze

Article Type: Commentray | First Published: January 26, 2019

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 early development of medical services in Lebanon has facilitated the detection of many inherent disorders. CF figures among the 184 reported genetic diseases of the Lebanese population. Even though no epidemiological studies were performed to determine the CF incidence in Lebanon, multiple factors advocate that it could be relatively hig...
 

 Open Access DOI:10.23937/ijrdd-2017/1710005

Evaluation and Valuation of the Price of Expensive Medicinal Products: Application of the Discounted Cash Flow to Orphan Drugs

Mark Nuijten, Hans Joerg Fugel and Jan Vis

Article Type: Research Article | First Published: December 19, 2018

The current policy for price negotiations on high prices of orphan drugs in Europe is neither a transparent nor a structural solution for reimbursement decisions for orphan drugs. In a previous paper, we proposed the Discounted Cash Flow model as an alternative assessment methodology for the price of innovative drugs including the investor's perspective. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ...
 

 Open Access DOI:10.23937/ijrdd-2017/1710004

Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations

Amine Hamma

Article Type: Case Report | First Published: July 11, 2018

Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs including the eye....
 

 Open Access DOI:10.23937/ijrdd-2017/1710003

Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient

SJ Winceslaus, Venkateshwaran Sivaraj, Julia Hall and Ramsay Singer

Article Type: Case Report | First Published: April 21, 2018

The expectation that the introduction of modern cART against HIV, leading to viral suppression and functional cure, would also herald complete immunological recovery has not materialised. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag...
 

 Open Access DOI:10.23937/ijrdd-2017/1710002

First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation

Contreras Roura Jiovanna, Robaina Zoe, Camayd Viera Ivette, Gonzalez-Gomez JC, Perez Garcia E, Martinez-Rey Laritza and Padron Aurelio David

Article Type: Original Article | First Published: March 29, 2018

Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26....
 

 Open Access DOI:10.23937/ijrdd-2017/1710001

Hereditary Ichthyosis and Achieving the Oral Mucosa, Retrospective Study of 33 Cases

Pr Omar Boudghene Stambouli and Dib Lachachi Amina

Article Type: Case Study | First Published: October 19, 2017

This is the most frequent and is transmitted on an autosomal dominant mode. 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 face and the large folds are respected....

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All articles are fully peer reviewed, free to access and can be downloaded from our ClinMed archive.

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ClinMed Journals Index Copernicus Values

Clinical Medical Image Library: 93.51

International Journal of Critical Care and Emergency Medicine: 92.83

International Journal of Sports and Exercise Medicine: 91.84

International Journal of Womens Health and Wellness: 91.79

Journal of Musculoskeletal Disorders and Treatment: 91.73

Journal of Geriatric Medicine and Gerontology: 91.55

Journal of Infectious Diseases and Epidemiology: 91.55

Clinical Medical Reviews and Case Reports: 91.40

International Archives of Nursing and Health Care: 90.87

International Journal of Ophthalmology and Clinical Research: 90.80

International Archives of Urology and Complications: 90.73

Journal of Clinical Nephrology and Renal Care: 90.33

Journal of Family Medicine and Disease Prevention: 89.99

Journal of Clinical Gastroenterology and Treatment: 89.54

Journal of Dermatology Research and Therapy: 89.34

International Journal of Clinical Cardiology: 89.24

International Journal of Radiology and Imaging Technology: 88.88

Obstetrics and Gynaecology Cases - Reviews: 88.42

International Journal of Blood Research and Disorders: 88.22

International Journal of Diabetes and Clinical Research: 87.97




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