Welcome to the Journal of Rare Diseases Research & Treatment

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Journal of Rare Diseases Research & Treatment is primarily based on values centered on loyalty, commitment, scientific accuracy, and ethics. It has adopted clear and rigorous ethical guidelines for best working practices.    Read More

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Each article we publish benefits from hundreds of hours of work by Chief editors, Sectional editors, Reviewers, Manuscript editors, Proofreaders, Graphics and Web experts, who work to ensure that the manuscript meets our standards.    Read More

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Focus & Scope


The overarching goal of the Journal of Rare Diseases Research & Treatment is to remain as a credible source of information on rare diseases and orphan drugs emphasizing on novel clinical features, rare case reports, Molecular genetic etiology, genotype-phenotype correlations, cellular and molecular biology, pathogenesis, mutations, disease mechanisms, diagnostic approaches, medical aspects, health economics and treatment options of the rare disease complexities.

The journal aims to create a stronger collective voice in bringing a real change in the rare disease community.

The integral part of our scholarly mission is to ensure the accuracy of journal quality in accord with the highest standards of professional ethics.

“Quality is our Priority.
It is the Foundation of our Publication"

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Recent Articles


Vol 4-2 Mini Review

Pulmonary Alveolar Proteinosis: Own Experience of Diagnosis and Treatment

Boris M. Ariel1,2*, Ivetta V. Dvorakovskaya1,3, Ludmila N. Novikova3, Mikhail M. Ilkovich3

1St. Petersburg Research Institute of Phthisiopulmonology, Health Ministry of Russia, St. Petersburg, Russia

2St. Petersburg City Mortem Bureau, St. Petersburg, Russia

3Pulmonology Clinic of Pavlov State Medical University, St. Petersburg, Russia

Pulmonary alveolar proteinosis (PAP) is a rare interstitial lung disease with severe impairment of respiratory function caused by some genetic abnormalities of surfactant production and utilization. One of the clue moments in the pathogenesis of this disease which can lead to respiratory failure and death is the pulmonary fibrosis development occurring occasionally in patients with moderate and severe PAP. According to our own experience in 1977-2018 whole and segmental lung lavage remains the first-line treatment of PAP; 70 patients (82%) had shown an improvement after this treatment. A noticeable improvement was achieved in 67 patients (79%), and no serious complications were observed. The 5-year survival rate reached 100%. Nevertheless, delayed diagnosis and incorrect administration of antibiotics and tuberculostatics reduce the probability of a long symptom-free period after lung lavage and resolution of the disease.

DOI: 10.29245/2572-9411/2019/2.1172 Read More
Vol 4-2 Mini Review

Metastatic Carcinoma to the Testis - A Mini Review

Gang Wang*

Department of Pathology, BC Cancer Vancouver Centre, University of British Columbia, Vancouver, BC, Canada

Metastatic carcinomas to the testis are extremely rare and have been reported only in autopsy series or case reports. However, when they occur, the metastatic tumors in the testis are usually unilateral and solitary, may have overlap growth patterns and cytological features with primary testicular tumors, including those of rete/epididymis origin, mesothelial origin and Sertoli cell tumor. It will make the diagnosis very challenging, especially when there is no known history of a primary tumor in other sites. Metastatic prostatic adenocarcinoma counts nearly half of the overall metastatic carcinoma in the testis, followed by colorectal carcinoma and renal cell carcinoma. Here, we review our experience and summarize the reported cases from the literature, to emphasize some of the unusual aspects of metastatic carcinoma to the testis, and discuss the main differential diagnoses for this rare condition. 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.

DOI: 10.29245/2572-9411/2019/2.1177 Read More
Vol 4-2 Research Article

Robust Sampling of Altered Pathways for Drug Repositioning Reveals Promising Novel Therapeutics for Inclusion Body Myositis

Juan Luis Fernández-Martínez*, Oscar Álvarez, Enrique J. DeAndrés-Galiana, Javier Fernández-Sánchez de la Viña, Leticia Huergo

Group of Inverse Problems, Optimization and Machine Learning. Department of Mathematics. University of Oviedo, Oviedo, 33007, Asturias, Spain.

In this paper we present a robust methodology to deal with phenotype prediction problems associated to drug repositioning in rare diseases, which is based on the robust sampling of altered pathways. We show the application to the analysis of IBM (Inclusion Body Myositis) providing new insights about the mechanisms involved in its development: cytotoxic CD8 T cell-mediated immune response and pathogenic protein accumulation in myofibrils related to the proteasome inhibition. The originality of this methodology consists of performing a robust and deep sampling of the altered pathways and relating these results to possible compounds via the connectivity map paradigm. The methodology is particularly well-suited for the case of rare diseases where few genetic samples are at disposal. We believe that this method for drug optimization is more effective and complementary to the target centric approach that loses efficacy due to a poor understanding of the disease mechanisms to establish an optimum mechanism of action (MoA) in the designed drugs. However, the efficacy of the list of drugs and gene targets provided by this approach should be preclinically validated and clinically tested. This methodology can be easily adapted to other rare and non-rare diseases.

DOI: 10.29245/2572-9411/2019/2.1174 Read More
Vol 4-2 Commentary

A Commentary on "A Novel Imaging Finding in Williams Syndrome: The Coral Sign"

Ali M Agha1, Jeremy Burt2*

1The McGovern Medical School at UT Houston, Department of Internal Medicine, USA

2AdventHealth Orlando, Department of Radiology, USA

DOI: 10.29245/2572-9411/2019/2.1180 Read More
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