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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 2-6 Mini Review

Clinical significance of the depth of invasion in superficial Barrett's esophageal adenocarcinoma.

Junya Oguma, Soji Ozawa, Akihito Kazuno, Miho Nitta, Yamato Ninomiya, Kentaro Yatabe

Department of Gastroenterological Surgery, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan

Superficial Barrett’s esophageal adenocarcinoma limited to the lamina propria, like other superficial cancers, is associated with almost no risk of lymph node metastasis. However, lymph node metastasis has been observed in patients with Barrett’s esophageal adenocarcinoma invading the muscularis mucosae. The duplication of the muscularis mucosae is a pathological characteristic of Barrett’s esophagus; however, the rate of lymph node metastasis might not differ according to the depth of invasion within the muscularis mucosae. Submucosal invasion is considered to be a risk factor for lymph node metastasis; however, many reports have suggested that submucosal invasion alone is not a risk factor but that the likelihood of lymph node metastasis increases as the number of risk factors increases. Generally, lymphovascular invasion, pathological differentiation and tumor size are also considered to be risk factors for lymph node metastasis. Previous reports have suggested that patients with superficial Barrett’s esophageal adenocarcinoma limited to T1b-SM1 may have a lower risk of lymph node metastasis and might be candidates for endoscopic resection if other risk factors are negative.

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Vol 2-6 Mini Review

Vitamin D deficient rickets: Not always nutritional

Angham Nasser Al Mutair1,2,3, Yasser Ali Binafif1

1Department of Pediatrics, Endocrinology Division, King Abdulaziz Medical City -Riyadh, King Abdullah Specialist Children Hospital (KASCH).
2King Saud bin Abdulaziz University for Health Sciences.
3King Abdullah International Medical Research Center, Riyadh 11155, Kingdom of Saudi Arabia.

Rickets in pediatrics due to vitamin D deficiency is still considering a major problem even in sunny and tropical countries. The prevalence of vitamin D deficiency and insufficiency in children between 6 and 15 years of age in the Kingdom of Saudi Arabia is 95.4%. Vitamin D requires two steps of hydroxylation to be functionally active. The first hydroxylation step occur in the liver by 25-hydroxylase encoded by CYP2R1 gene (11p15.2) to produce 25(OH)D3 and the second step of hydroxylation occur in proximal convoluted tubules in kidney by 1α-hydroxylase encoded by CYP27B1 gene (12q13.1) to produce hormonally active 1,25-dihydroxyvitamin D3 (1α,25(OH)2D3). Vitamin D-dependent rickets type 1B (VDDR1B) is a form of rickets due to mutation in CYP2R1 gene. Until today, only five mutations were found to affect CYP2R1 gene which lead to abnormal structure and function of 25-hydroxylase enzyme. Presence of symptoms of vitamin D deficiency in good dietary history with poor response or depending on regular to high dose of vitamin D2 or D3 to maintain 25(OH)D3 level should raise the suspicion of genetic causes of CYP2R1 mutations. These mutations are inherited as autosomal recessive; the severity and response to medication depend on number of allele affected. Some of the homogenous mutation patients showed some improvement in using Calcitriol. Bypassing the first step of hydroxylation (25-hydroxylase) in liver using 25-OH-D3 (Calcifediol) as treatment lead to dramatic improvement of biochemical and radiological finding in seven recent reported cases which needs further study.

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Vol 2-6 Commentary

Commentary: Characterization and targeting of Platelet-Derived growth factor receptor alpha (PDGFRA) in Inflammatory breast cancer (IBC)

Kenneth L. van Golen*

The laboratory for cytoskeletal physiology, Department of biological sciences, The university of delaware, The center for translational cancer research, The Helen F. Graham Cancer Center, Newark, DE, USA

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Vol 2-6 Mini Review

Mini-review: The role of mast cells in pulmonary hypertension

Yijie Hu1,2, Wolfgang M. Kuebler1,3,4

1Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, ON, Canada
2Department of Cardiovascular Surgery, Institute of Surgical Research, Daping Hospital, Third Military Medical University, Chongqing, China
3Departments of Surgery and Physiology, University of Toronto, Toronto, ON, Canada
4Institute of Physiology, Charité Universitätsmedizin Berlin, Berlin, Germany

Of recent, inflammatory responses, formation of ectopic lymphoid tissue and autoantibodies have been increasingly implicated in the pathophysiology of pulmonary hypertension (PH). One of the earliest immune cells detected in PH and implicated in its pathogenesis were mast cells based on their demonstrated abundance in the vicinity of vascular lesions in PH patients, as well as in lungs of animal models of PH. Experimental studies using mast cell stabilizers or mast cell deficient rats in classic PH models provided proof-of-principle for the functional relevance of mast cells in the initiation and/or progression of PH and lung vascular remodeling. Yet, the cellular mechanisms by which mast cells contribute to the development of PH and pulmonary vascular remodeling has so far remained largely unclear. Importantly, understanding the downstream effectors by which activated mast cells and their secretome trigger or promote vascular remodeling may lead to the development of novel therapies for PH. Notably, recent work has unveiled a novel interplay between mast cells and the adaptive immune system in PH, in that mast cell-targeted interventions attenuate the formation of tertiary lymphoid tissue in the lung and the formation of autoantibodies. This minireview will focus on the role of mast cells in PH and their possible downstream mechanism.

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