Intractable & Rare Diseases Research
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Volume 4 , Issue 2
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Reviews
  • Rajendra Prasad, Nikhil Gupta, Abhijeet Singh, Pawan Gupta
    Volume 4 (2015) Issue 2 Pages 65-69
    Released: April 30, 2015
    JOURNALS FREE ACCESS
    Idiopathic pulmonary fibrosis (IPF) accounts for the majority of lung diseases classified as idiopathic interstitial pneumonia (IIP). It is considered to be lethal because prognosis is very poor and far worse than other types of IIP. An early and accurate diagnosis of IPF is critical. The diagnostic process is complex and requires a multidisciplinary approach involving a pulmonologist, radiologist and pathologist.
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  • Selami Demirelli, Husnu Degirmenci, Sinan Inci, Arif Arisoy
    Volume 4 (2015) Issue 2 Pages 70-75
    Released: April 30, 2015
    [Advance publication] Released: March 24, 2015
    JOURNALS FREE ACCESS
    Behcet's disease (BD) is a chronic inflammatory disorder, with vasculitis underlying the pathophysiology of its multisystemic effects. Venous pathology and thrombotic complications are hallmarks of BD. However, it has been increasingly recognised that cardiac involvement and arterial complications are also important aspects of the course of the disease. Cardiac lesions include pericarditis, endocarditis, intracardiac thrombosis, myocardial infarction, endomyocardial fibrosis, and myocardial aneurysm. Treatment of cardiovascular involvement in BD is largely empirical, and is aimed towards suppressing the vasculitis. The most challenging aspect seems to be the treatment of arterial aneurysms and thromboses due to the associated risk of bleeding. When the prognosis of cardiac involvement in BD is not good, recovery can be achieved through oral anticoagulation, immunosuppressive therapy, and colchicine use. In this review, we summarise the cardiovascular involvement, different manifestations, and treatment of BD.
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Original Articles
  • Chao Wang, Yazhou Cui, Yan Li, Xiao Liu, Jinxiang Han
    Volume 4 (2015) Issue 2 Pages 76-81
    Released: April 30, 2015
    [Advance publication] Released: March 31, 2015
    JOURNALS FREE ACCESS
    Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in China Biology Medicine disc from 1978 to 2013. In total, 2,043 cases were reported in the past 36 years. We describe its distribution from time and space. We also estimate the literature reported prevalence of hereditary spherocytosis by DisMod-II software, overall prevalence in China was estimated to be: 1.27 cases per 100,000 people in males and 1.49 cases per 100,000 people in females. All results suggest a stronger network of diagnosis and treatment including all levels of hospitals should be created to improve healthcare for hereditary spherocytosis and even other rare diseases in the future, meanwhile we can obtain more useful information for orphan drug designation purposes and make public health decisions regarding such diseases through the use of the burden of disease models.
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  • Yan Li, Yazhou Cui, Chao Wang, Xiao Liu, Jinxiang Han
    Volume 4 (2015) Issue 2 Pages 82-86
    Released: April 30, 2015
    [Advance publication] Released: March 31, 2015
    JOURNALS FREE ACCESS
    Bronchopulmonary Dysplasia (BPD) is a rare chronic lung disease and one of the most difficult complications to treat in premature infants. With the progress at the medical treatment level, an increasing number of BPD premature infants are born, meanwhile, they would be at an increasing risk for numerous complications and rehospitalization because BPD affects many vital organ systems. The pathogenesis of BPD is clearly multifactorial. As the prognosis is closely connected with the severity of BPD, early diagnosis and treatment are of great help to control the development of BPD. This article focuses on risk factors that could influence the severity of BPD in order to provide a reliable basis for early diagnosis, treatment, and better patient assessment.
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  • IImran Ali Khan, Parveen Jahan, Qurratulain Hasan, Pragna Rao
    Volume 4 (2015) Issue 2 Pages 87-92
    Released: April 30, 2015
    JOURNALS FREE ACCESS
    The rs7903146 and rs13266634 polymorphisms in the TCF7L2 and SLC30A8 genes, respectively, have been reported to be associated with type 2 diabetes. However, little is known about the association of these polymorphisms with post-transplant diabetes mellitus (PTDM). To study this linkage, we determined a distribution of allele and genotype frequencies in Asian Indians. 42 PTDM and 98 non-PTDM subjects were recruited. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed to detect for rs7903146 and rs13266634 polymorphisms. The clinical details and statistical analysis for PTDM and non-PTDM subjects were recorded. Our results observed higher frequencies of the minor alleles in rs7903146 and rs13266634 polymorphisms in the PTDM group compared to the non-PTDM subjects. The allele frequencies also found to be significantly associated with PTDM (rs7903146: T vs C: OR-2.6; (95%CI: 1.2-5.6); p = 0.01; rs13266634: T vs C: OR-2.0; (95%CI: 1.1-3.4); p = 0.01). These findings suggest that rs7903146 and rs13266634 polymorphisms are associated with PTDM in the Asian Indian population despite a relatively small study group.
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  • Keiichi Uchida, Yuhki Koike, Kohei Matsushita, Yuka Nagano, Kiyoshi Ha ...
    Volume 4 (2015) Issue 2 Pages 93-97
    Released: April 30, 2015
    [Advance publication] Released: April 07, 2015
    JOURNALS FREE ACCESS
    The aims of this study were to review our therapy and outcome for meconium peritonitis (MP) patients, and to clarify predictors of postoperative morbidity and mortality. We retrospectively reviewed a total 15 patients with MP who received surgical intervention at our institute from December 1990 to November 2012. Diagnosis of MP was confirmed by operative findings. We analyzed the relationship between outcome and patients' factors including patients' characteristics, prenatal diagnosis, type of MP, general condition, and surgical procedure. There was no relationship between outcome and the following factors: gender, gestational age, body weight at birth, delivery type, Apgar score, prenatal diagnosis, types and causes of MP, and surgical procedure. However, the preoperative presence of circulation deficiency and serum CRP values were statistically significant predictors of outcome in our MP patients. Prenatal diagnosis is essential for the first step of perinatal therapy for MP. Surgical strategy should be selected according to the information of prenatal diagnosis. Early surgical procedures to reduce systemic and abdominal inflammation just after birth may improve the outcome of severe MP cases.
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  • Dongmei Li, Min Zhang, Qiuhua Zhang, Yue Wang, Xuxia Song, Qiuling Zha ...
    Volume 4 (2015) Issue 2 Pages 98-104
    Released: April 30, 2015
    JOURNALS FREE ACCESS
    Cell therapy is a potential approach for treatment of strokes. Mesenchymal stem cells (MSCs) are a potential cell source for clinical use because they are safe and easy to obtain. A peptide solution can promote neural regeneration. Previously, such a solution was stereotactically injected into the brain of rats with cerebral infarction, resulting in improvement in the animal's neurological function and reduction in the infarction volume, but the injury was relatively severe. The current study established a rat model of cerebral ischemia-reperfusion (I/R) injury. MSCs isolated from Wharton's jelly of human umbilical cords (HUMSCs) were injected intravenously immediately after cerebral I/R injury(3 × 106 cells per rat). Twenty-four h and 14 d after surgery, animal behavior was evaluated using the Rogers test and infarct lesion volume was evaluated by 2,3,5-triphenyltetrazolium chloride staining. Fourteen d after surgery, brain tissues were collected at 14 d to study migration/implantation of HUMSCs, cellular proliferation, neural regeneration and astrocyte activation. Compared to cerebral I/R injury alone, HUMSC treatment improved function at 14 d after surgery, with no reduction in infarct volume or migration or implantation of cells into the damaged brain areas. Nevertheless, 14 d after surgery, HUMSC administration increased cellular proliferation and the level of neurofilament 200 level and decreased the level of glial fibrillary acidic protein. After cerebral I/R injury, acute intravenous administration of HUMSCs could promote recovery by activating endogenous neural regeneration and inhibiting astrocyte activation, without migration and implantation directly into lesions.
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Case Reports
  • Shipra Kunwar, Khan Tamkin, Kumkumrani Srivastava
    Volume 4 (2015) Issue 2 Pages 105-107
    Released: April 30, 2015
    JOURNALS FREE ACCESS
    Abdominal pregnancy is an extremely rare form of ectopic pregnancy, mostly occurring secondarily after tubal rupture or abortion with secondary implantation anywhere in the peritoneal cavity. Massive intra-abdominal hemorrhage is a life threatening complication associated with secondary abdominal pregnancy. Various methods and techniques have been reported in the literature for controlling hemorrhage. Here, we report a case of massive intraperitoneal haemorrhage following placental removal controlled by abdominal packing and review the literature for diagnostic and management challenges.
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  • Selami Demirelli, Emrah Ermis, Engin Hatem, Abdulkadir Uslu, Lutfu Ask ...
    Volume 4 (2015) Issue 2 Pages 108-110
    Released: April 30, 2015
    JOURNALS FREE ACCESS
    Takotsubo cardiomyopathy (TC) or left ventricular apical ballooning syndrome is typically characterized by reversible systolic dysfunction of the apical- and mid-segments of the left ventricle. Symptoms are precipitated by intense emotional or physical stress, in the absence of obstructive coronary artery lesions. The most common presentation of TC is a transient left ventricular apical ballooning. However, recent case reports have described various patterns of TC associated with distinct regional left ventricular wall motion abnormalities. One of very rare these variants, referred to as a "mid-ventricular" type, is characterized by akinesis with or without ballooning of the mid-ventricular segment, together with a hyperdynamic base and apex. Using left ventriculography we describe an atypical form of TC with transient, focal mid-ventricular ballooning of the anterior segment, followed by complete resolution of ballooning, as observed by cardiac magnetic resonance (CMR) imaging.
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