Intractable & Rare Diseases Research
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Volume 5 , Issue 1
Showing 1-12 articles out of 12 articles from the selected issue
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Reviews
  • Kevin O'Gallagher, Luke Dancy, Aish Sinha, Daniel Sado
    Volume 5 (2016) Issue 1 Pages 1-5
    Released: February 13, 2016
    [Advance publication] Released: February 01, 2016
    JOURNALS FREE ACCESS
    Rosai-Dorfman disease (RDD) is a non-malignant pathology of histiocyte proliferation. The classical clinical presentation is with painless cervical lymphadenopathy, but extranodal involvement is frequent, occurring in approximately 40% of cases. The literature was systematically reviewed to identify reported cases of RDD with cardiac involvement. Eighteen cases were identified (3 pediatric and 15 adult). In adult cardiac RDD (cRDD), three patterns of disease were noted: an intra-cardiac mass, epicardial involvement, and pulmonary artery involvement. Reported cases suggest that surgical excision of intra-cardiac masses confers a good prognosis.
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  • Yang Han, Xidi Wang, Bingping Wang, Guosheng Jiang
    Volume 5 (2016) Issue 1 Pages 6-16
    Released: February 13, 2016
    [Advance publication] Released: February 01, 2016
    JOURNALS FREE ACCESS
    Angiogenic factors have been demonstrated to play important roles in modulating angiogenesis of solid tumors. Recently, accumulating studies extensively indicated that some angiogenic factors widely exist in malignant cells of hematologic malignancy, which regulated the expression of a number of genes that were involved in abnormal proliferation, differentiation and apoptosis of these cells. With deep research of angiogenic factors, its expression, function and regulatory mechanism were gradually elucidated, and some of them were related to the development and prognosis of leukemia, or provide more possible strategies for treatment of patients with leukemia. Herein, we summarize the progress in study of some important angiogenic factors and hematological malignancies.
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Original Articles
  • Cristiana Meneghello, Daniela Segat, Elisabetta Fortunati
    Volume 5 (2016) Issue 1 Pages 17-24
    Released: February 13, 2016
    [Advance publication] Released: December 14, 2015
    JOURNALS FREE ACCESS
    Prader-Willi (PW) syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities and severe hypotonia, hyperphagia, behavioural and psychiatric problems. Absence of satiety leads to severe obesity and frequently to diabetes. Furthermore, adult patients suffer from a severe loss of muscle mass, which severely impacts their quality of life. The mechanisms underlying alterations in muscle growth in PW remain to be clarified. In this study we explored the hypothesis that, in PW cells, alterations of protein synthesis are determined by dysfunctions in the promotion of cell growth. In order to study the molecular changes leading to dysfunction in protein translation, primary fibroblasts derived from four PW patients and five control subjects were used to study the insulin-mediated signaling pathway implicated in the control of protein synthesis by immunoblotting. Here we present, for the first time, evidences that the protein translation response to insulin is impaired in PW fibroblasts. Insulin alone has a major upregulatory effect on protein kinase B (AKT), glycogen synthase kinase (GSK3beta), while phosphorylation of p70S6K1 protein elongation factor controlled by mammalian target of rapamycin complex I (mTORC1) is reduced. In addition, we provide data that the response to insulin in PW cells can be restored by previous treatment with the amino acid L-Leucine (L-Leu). Our experiments in primary cell cultures demonstrate an impairment of insulin signaling that can be rescued by supplementation with the branched aminoacid L-Leu, indicating a possible therapeutic approach for alleviating muscle mass loss in PW patients.
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  • Imran Ali Khan, Kiran Kumar Vattam, Parveen Jahan, Qurratulain Hasan, ...
    Volume 5 (2016) Issue 1 Pages 25-30
    Released: February 13, 2016
    [Advance publication] Released: December 31, 2015
    JOURNALS FREE ACCESS
    Type 2 diabetes mellitus (T2DM) and post-transplant diabetes mellitus (PTDM) are non synonymous forms of diabetes. Glucokinase (GCK) plays a key role in glucose metabolism. The relationship between the GCK promoter and specific types of diabetes, such as PTDM and T2DM, in the Asian Indian population is unknown. We examined the occurrence of a specific GCK promoter variant (-258G/A) in patients with T2DM and PTDM. The casecontrol study enrolled 640 Asian Indian subjects, including controls (n = 250) and T2DM (n = 250), PTDM (n = 42), and non-post-transplant diabetes mellitus (non-PTDM) (n = 98) patients. Purified Deoxyribonucleic acid (DNA) was genotyped with the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. The digested PCR products were analyzed on 12% polyacrylamide gels. The anthropometric, biochemical, and clinical details of each group were documented. GCK -258G/A alleles and genotypes were not associated with T2DM. However, among PTDM subjects, we detected a higher frequency of heterozygotes (52.4%) and a positive association with alleles/genotypes. The results suggest that the promoter region (-258G/A) of GCK plays an important role in PTDM in Asian Indians.
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  • Xiao Liu, Yazhou Cui, Yan Li, Chao Wang, Heng Zhao, Jinxiang Han
    Volume 5 (2016) Issue 1 Pages 31-35
    Released: February 13, 2016
    [Advance publication] Released: February 01, 2016
    JOURNALS FREE ACCESS
    China lacks a registry for most rare diseases, so specific epidemiological data on those diseases are lacking. A strategy involving the DISMOD II model was recently formulated to estimate the epidemiological parameters of rare diseases, and this strategy has been used to study several rare diseases. The current study used this strategy to estimate the prevalence of one such rare disease, Wegener's granulomatosis (WG), in China based on its incidence, mortality, and rate of remission according to the software tool DISMOD II. The incidence of WG was calculated based on inpatient data from 100 hospitals throughout China. The cause-specific mortality from WG was estimated based on data from the National Vital Statistics System of the United States and adjusted for the Chinese population. The rate of disease remission was based on the results of previous study. The current results indicated that the prevalence of WG in China is 1.94/100,000, which is slightly lower than that in Europe and the United States. The mean age at onset of WG in China was calculated to be 38.9 years for males and 39.3 years for females and the duration of disease was 28 years for both male and female patients. These figures are similar to published data from other countries. In conclusion, the DISMOD II model was used to estimate the prevalence of WG in China, providing a basis to evaluate the potential disease burden and orphan drug use by patients with WG. The DISMOD II model could be used to estimate the prevalence of other rare diseases.
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Case Reports
  • Maria Gabriella Malzone, Anna Cipolletta Campanile, Veronica Sanna, Fr ...
    Volume 5 (2016) Issue 1 Pages 36-41
    Released: February 13, 2016
    JOURNALS FREE ACCESS
    Castleman's disease (CD) is an unusual inflammatory lymphoproliferative disorder of uncertain aetiology, mainly involving lymphatic tissue in the mediastinum, but also occurring in the neck, lung, abdomen, pelvis, skeletal muscle and retroperitoneum. Fine Needle Cytology (FNC) is a quick, cost-effective and safe diagnostic modality to investigate on organs involved by CD, also providing a guide to treatment and management of patients with lymphoadenopathy. We report a case of a 44-year-old man who underwent FNC of a submandibular mass with subsequent surgical excision. Cytology revealed an atypical lymphoproliferative process, which arose the suspicion of CD. Histopathological study of the excised masses combined with immunhistochemistry and imaging of the submandibular and neck areas, confirmed the suspicion. A final diagnosis of Unicentric Castleman's disease, hyaline-vascular type, was made.
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  • Ran Wang, Xingshun Qi, Xu Liu, Xiaozhong Guo
    Volume 5 (2016) Issue 1 Pages 42-43
    Released: February 13, 2016
    [Advance publication] Released: November 20, 2015
    JOURNALS FREE ACCESS
    Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps. The estimated incidence of PJS ranges from 1/50,000 to 1/200,000. PJS can significantly increase the risk of malignancies, and especially gastrointestinal malignancies. Reported here are 4 cases of PJS in one family.
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  • Mona Asnani, Kumkum Srivastava, Hem Prabha Gupta, Shipra Kunwar, A N S ...
    Volume 5 (2016) Issue 1 Pages 44-46
    Released: February 13, 2016
    [Advance publication] Released: November 20, 2015
    JOURNALS FREE ACCESS
    Vaginal fibroids rarely exist as a primary vaginal tumor. Approximately 300 cases have been reported in the literature. Here we are reporting a rare case of giant vaginal fibromyoma. It was diagnosed as cervical fibroid polyp preoperatively but found to be vaginal fibromyoma peroperatively.
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  • Halil Aktas, Sinan Inci, Pinar Dogan, Ibrahim Izgu
    Volume 5 (2016) Issue 1 Pages 47-49
    Released: February 13, 2016
    [Advance publication] Released: December 14, 2015
    JOURNALS FREE ACCESS
    Apixaban, a non-vitamin K antagonist oral anticoagulants, is a Factor Xa inhibitor that is prescribed for the treatment of non valvular atrial fibrillation. Rectus sheath hematoma is a rare but significant complication of oral anticoagulant treatment. The important causes of rectus sheath hematoma include treatment with anticoagulants, hematologic diseases, trauma, intense physical activity, coughing, sneezing and pregnancy. In this report, we describe case of a 71-year-old woman undergoing apixaban treatment for non valvular atrial fibrillation who presented with spontaneous rectus sheath hematoma.
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  • K. N. Megha, Sugathan Adithya, K. P. Keerthana, Sreeraj Konadath
    Volume 5 (2016) Issue 1 Pages 50-55
    Released: February 13, 2016
    [Advance publication] Released: January 27, 2016
    JOURNALS FREE ACCESS
    Certain clinical pathologies affecting the ear and hearing mechanism may co-exist. It is necessary to probe in detail into such conditions so that the pathophysiology is well understood. This research paper through a single case study tries to explain the probable pathophysiology behind coexistence of three different clinical conditions namely auditory dys-synchrony, hyperacusis and tinnitus. These conditions are common in the clinics, but the coexistence of all the three is rare and demands explanation beyond what is available in the literature. The assumed model highlights involvement of the outer hair cell's motor function in the cochlea along with the auditory central gain mechanism to explain possible pathophysiology behind coexistence of the three conditions. This model will provide insight into the probable link between the contribution of peripheral and central structures of hearing in generating tinnitus and hyperacusis in individuals having auditory dys-synchrony.
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  • Pinar Dogan, Sinan Inci, Mevlut Serdar Kuyumcu, Ozgur Kus
    Volume 5 (2016) Issue 1 Pages 56-57
    Released: February 13, 2016
    JOURNALS FREE ACCESS
    Pacemaker contact sensitivity is a rare condition. Less than 30 reports of pacemaker skin reactions have been described. We report a 57-year-old woman who underwent an implantable cardiac defibrillator (ICD) implantation for ventricular tachycardia. A skin patch test was positive on almost all components of the pacemaker system. She was treated with topical corticosteroids and skin lesions resolved within 2 weeks. Because of widespread use of various devices, we will see this more often and therefore it is important to recognize this problem and its effective management.
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  • Xingshun Qi, Chun Ye, Yue Hou, Xiaozhong Guo
    Volume 5 (2016) Issue 1 Pages 58-60
    Released: February 13, 2016
    JOURNALS FREE ACCESS
    A spontaneous portosystemic shunt is a rare malformation of the vessels supplying the liver. This condition often leads to the development of hepatic encephalopathy due to excessive shunting of blood from the portal vein to the inferior vena cava. Some studies have suggested that the presence of spontaneous portosystemic shunts is inversely associated with the appearance of large esophageal varices. Spontaneous intrahepatic portosystemic shunts (SIPSS) are far less frequently observed than extrahepatic portosystemic shunts, which include spleno-gastric-renal shunts, mesenteric-caval shunts, and a large patent umbilical vein. Reported here is a case of decompensated liver cirrhosis with a large SIPSS without any incidence of overt hepatic encephalopathy.
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