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

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:10.23937/2643-4571/1710013

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:10.23937/2643-4571/1710010

Epidemiology of Mucopolysaccharidoses (MPS) in the United States: A Need for Newborn Screening

Yana Puckett, MD, MPH, Theophilus Pham, MBA, Eileen Bui, Laurie Turner and Alan Zelicoff, MD

Article Type: Original Article | First Published: September 16, 2019

Previous studies on the incidence and prevalence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. Furthermore, most information pertaining to the incidence of MPS comes from other countries. In this study, we aimed to identify the incidence of MPS in the United States (U.S.). We also examine the epidemiological and clinical importance of including MPS on newborn screening panels. We performed a retrospective epidemiological study b...
 

 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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