Intractable & Rare Diseases Research
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Volume 1 , Issue 3
Showing 1-7 articles out of 7 articles from the selected issue
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Reviews
  • Ziqiang Wang, Yanqin Lu, Jinxiang Han
    Volume 1 (2012) Issue 3 Pages 98-102
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Peripheral blood microRNAs (miRNAs) are endogenous, noncoding small RNAs present in blood. Because of their size, abundance, tissue specificity, and relative stability in peripheral circulation, they offer great promise of becoming a novel noninvasive biomarker. However, the mechanism by which they are secreted, their biological function, and the reason for the existence of extracellular miRNAs are largely unclear. This article describes advances in the study of the mechanism of origin and biological function of extracellular miRNAs along with approaches adopted by research and questions that remain. This work also discusses the potential for peripheral blood miRNAs to serve as a diagnostic tool.
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  • Jean-François Girmens, José-Alain Sahel, Katia Marazova
    Volume 1 (2012) Issue 3 Pages 103-114
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Age-related macular degeneration (AMD) is a leading cause of severe visual impairment and disability in older people worldwide. Although considerable advances in the management of the neovascular form of AMD have been made in the last decade, no therapy is yet available for the advanced dry form of AMD (geographic atrophy). This review focuses on current trends in the development of new therapies targeting specific pathophysiological pathways of dry AMD. Increased understanding of the complex mechanisms that underlie dry AMD will help to address this largely unmet clinical need.
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  • Yuesi Zhong, Meihai Deng, Ruiyun Xu, Norihiro Kokudo, Wei Tang
    Volume 1 (2012) Issue 3 Pages 115-121
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Pseudomyxoma peritonei (PMP) is a rare and intractable disease with an estimated incidence of one per million population per year. Many aspects of PMP need to be fully and precisely understood; these include its preoperative assessment, i.e. diagnosis, early diagnosis, pathologic classification, and staging according to the peritoneal cancer index, and its surgical treatment. This review focuses on elements of preoperative assessment and surgery using the Sugarbaker procedure to help improve the prognosis for patients with PMP. Accurate data on the incidence of PMP must be based on large populations rather than estimates, and much work needs to be done especially in China. Special attention should be paid to its preoperative assessment. Also proposed here are steps to manage PMP with an emphasis on preoperative assessment.
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  • Xiaozhong Li, Lenian Shi, Taiyun Liu, Lin Wang
    Volume 1 (2012) Issue 3 Pages 122-128
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Sesamoid bones and accessory ossicles are research focuses of foot and ankle surgery. Pains of the foot and ankle are related to sesamoid bones and accessory ossicles. The specific anatomical and functional relationship of sesamoid bones and accessory ossicles can cause such bone diseases as the dislocation of sesamoid bones and accessory bones, infection, inflammation and necrosis of sesamoid bones, cartilage softening, tenosynovitis of sesamoid bones and the sesamoid bone syndrome. However, these bone diseases are often misdiagnosed or mistreated. In patients with trauma history, relevant diseases of sesamoid bones and accessory ossicles as above mentioned are highly probable to be misdiagnosed as avulsion fractures. In such cases, radiographic findings may provide a basis for clinical diagnosis.
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  • Yisha Tong
    Volume 1 (2012) Issue 3 Pages 129-133
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Carotid body tumour is a rare disease, a slow growing highly vascular tumour of the carotid body tissue and the most common type of the paraganglioma. This article reviews the pathological, clinical and ultrasound features of carotid body tumours and discusses the role of duplex ultrasound in the diagnosis and assessment of this condition. The initial presentation of carotid body tumour is usually a painless palpable neck mass. Some patients may experience local pressure symptoms as well as symptoms from vagal, hypoglossal and cervical sympathetic nerve impingement. Percutaneous needle aspiration or incisional biopsy is contraindicated for the diagnosis of carotid body tumours. Duplex ultrasound, computed tomography scan, magnetic resonance scan and angiography are commonly used diagnostic tools for this condition. Complete surgical excision of carotid body tumour is the treatment of choice as radiation therapy and chemotherapy are unsatisfactory. Based on vascularity and location, duplex ultrasound scan is able to diagnose carotid body tumour and differentiate it from many other masses in the neck. This non-invasive, inexpensive and readily available diagnostic tool can be used as a first-line imaging modality for the diagnosis and assessment of carotid body tumours.
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Commentary
  • Liang Mao, Yudong Qiu
    Volume 1 (2012) Issue 3 Pages 134-137
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    The Atlanta Classification of acute pancreatitis (AP) is widely accepted and has been used by physicians and radiologists since 1992. However, advances in knowledge of the disease process, improved imaging, and ever-changing treatment options have rendered some of its definitions ambiguous and highlighted the inadequacy of its classification of severity. This review discusses revision of the Atlanta Classification (2008) and it describes a new determinant-based classification (2012). In contrast to the Atlanta Classification, the revised version and new classification are based on evidence but still need to be developed through systematic review of new data and further international consultation.
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