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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 3-2 Mini Review

Congenital Generalized Lipodystrophy

Josivan Gomes Lima1*, Marcel Catão Ferreira dos Santos1, Julliane Tamara Araújo de Melo Campos2

1Departamento de medicina clínica, disciplina de endocrinologia e metabologia. Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte (UFRN), Natal, RN, Brazil

2Faculty of Health Sciences of Trairi, Federal University of Rio Grande do North (UFRN), Natal, RN, Brazil

Congenital Generalized Lipodystrophy (CGL) is a rare and severe autosomal recessive disease. Patients are defective in the storage of body fat and, consequently, they deposit fat in ectopic tissues, mainly liver, and can develop cirrhosis. Insulin resistance is a typical finding, causing diabetes that require high daily doses of insulin. In the state of Rio Grande do Norte, Brazil, we have one of the largest cohorts of patients with CGL. In this article, we review pathophysiology, clinical picture and treatment of this disease.

DOI: 10.29245/2572-9411/2018/2.1147 Read More
Vol 3-2 Mini Review

Thrombocytopenia induced by iodinated contrasts. Utility of gadolinium and intravascular ultrasound

Francisco José Guerrero-Márquez1*, José María Cubero-Gómez1, Agustín Guisado-Rasco1, Luis Salvador Díaz-de la-Llera1, Mónica Fernández-Quero1, Manuel Villa-Gil Ortega1

1Haemodynamic and Interventional Cardiology, University Hospital Virgen del Rocío, Seville, Spain

Thrombocytopenia induced by iodinated contrasts is a rare adverse effect but with significant morbidity and mortality. The molecular mechanisms that produce this phenomenon are unknown; however, an idiosyncratic reaction after a previous exposure may be part of its etiopathogenesis. The best alternative to these media is gadolinium medium, although its scarce radiopacity and possible adverse effects secondary to its dose result in limitations to its use. The use of intracoronary diagnostic techniques, such as intravascular ultrasound (IVUS), can provide information and reduce the risks inherent in a higher dose of gadolinium. In the absence of experience in the form of literature in this field, the best alternative that we have to guide a coronary intervention in patients with a contraindication to iodinated contrasts is gadolinium medium supported with IVUS.

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Vol 3-2 Mini Review

Lectin-like, oxidized low-density lipoprotein receptor-1-deficient mice show resistance to age-related knee osteoarthritis: A Mini review

Kazuhiko Hashimoto1*, Yutaka Oda1, Shigeshi Mori2, Koutaro Yamagishi1, Tsukamoto Ichiro1, Masao Akagi1

1Department of Orthopedic Surgery, Kindai University Hospital, Osaka-Sayama City, Osaka 589-8511, Japan

2Department of Orthopedic Surgery, Kindai University Nara Hospital, Ikoma City, Nara 630-0293, Japan

The lectin-like, oxidized low-density lipoprotein (ox-LDL) receptor-1 (LOX-1)/ox-LDL system contributes to atherosclerosis and thus may play a role in cartilage degeneration. The purpose of this study was to determine whether the LOX-1/ox-LDL system contributes to the pathogenesis of age-related osteoarthritis (OA) in vivo, using LOX-1 knockout (LOX-1 KO) mice. Knee cartilage samples from 6-, 12-, and 18-month-old (n = 10 per group) C57Bl/6 wild-type (WT) and LOX-1 KO mice were compared for OA-related changes with Safranin-O staining. At 12 and 18 months, the OA changes were significantly reduced in LOX-1 KO mice compared to those in WT mice. Moreover, an immunohistological analysis showed that the expression levels of Runt-related transcription factor-2, type-X collagen, and matrix metalloproteinase-13 in the articular chondrocytes were significantly decreased in LOX-1 KO mice compared with those in WT mice. Overall, this study indicates that the LOX-1/ox-LDL system in chondrocytes plays a role in the pathogenesis of age-related knee OA, highlighting a novel potential target for preventing OA progression.

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Vol 3-2 Research Article

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Chi Yun Yu1, Syed Wasim2, Dominick Amato3*

1University of Toronto, Medical Sciences Building, 1 King's College Cir #3172, Toronto, ON M5S 1A8, Canada

260 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON M5T 3L9, Canada

3Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital, 60 Murray Street, Room L3-415, Toronto, Ontario M5T 3L9, Canada

Gaucher disease (GD) is characterized by a deficiency in lysosomal glucocerebrosidase, resulting in a multisystemic disease with substantial variability in clinical manifestations, disease progression, and treatment response. This is the first study in Canada that examines the epidemiological profile of Gaucher patients, mapping out the GD clinical spectrum in the ethnically diverse province of Ontario.

Study found a prevalence of 1:155,367 (1: 9,853 for Ashkenazi-Jews) type 1 GD adults in Ontario. Splenectomy was associated with improved thrombocytopenia, worsened hyperferritinemia and bone pain, but no effects on anemia, bone mineral density or bone crises. Compared to the non-treatment group, a higher proportion of patients who received enzyme replacement/ substrate reduction therapy (ERT/SRT) presented with anemia, hepatomegaly, bone pain, and bone crises at baseline, suggesting that these presentations may be predictive of subsequent need for treatment. ERT/SRT were effective in improving all hematological, visceral, and skeletal manifestations (except bone mineral density), whereas the non-treatment group remained clinically stable over time (10.88 years) without significant disease progression – thus early use of ERT/SRT may not be necessary in all patients.

This comprehensive analysis summarizes the genotypic and phenotypic heterogeneity of GD, serving as a comparative resource for optimization of care for adult patients.

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