Intractable & Rare Diseases Research
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Volume 4 , Issue 4
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Reviews
  • Yu Zhao, Lin Wang, Jihong Pan
    Volume 4 (2015) Issue 4 Pages 165-169
    Released: November 16, 2015
    [Advance publication] Released: September 08, 2015
    JOURNALS FREE ACCESS
    L-type amino acid transporter 1 (LAT1) is an L-type amino acid transporter and transports large neutral amino acids such as leucine, isoleucine, valine, phenylalanine, tyrosine, tryptophan, methionine, and histidine. LAT1 was found to be highly expressed especially in human cancer tissues, and up-regulated LAT1 can lead to dysfunction in human tumor cells. These findings suggest that LAT1 plays an important role in human tumors. This review provides an overview of the current understanding of LAT1 expression and its clinical significance and function in tumors.
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  • Emrah Ipek, Selami Demirelli, Emrah Ermis, Sinan Inci
    Volume 4 (2015) Issue 4 Pages 170-180
    Released: November 16, 2015
    [Advance publication] Released: September 08, 2015
    JOURNALS FREE ACCESS
    Sarcoidosis is a chronic multisystem disorder without any defined etiology. Cardiac sarcoidosis (CS) is detected in 2-7% of patients with sarcoidosis and more than 20% of the cases of sarcoidosis are clinically silent. Cardiac involvement in systemic sarcoidosis (SS) and isolated cardiac sarcoidosis (iCS) are associated with arrhythmia and severe heart failure (HF) and have a poor prognosis. Early diagnosis of CS and prompt initiation of corticosteroid therapy with or without other immunosuppressants is crucial. Electrocardiography, Holter monitoring, and Doppler echocardiography with speckle tracking imaging can serve as the initial steps to diagnosis of CS. Cardiac magnetic resonance (CMR) imaging and positron emission tomography (PET) are promising techniques for both diagnosis and follow-up of CS. This review discusses the main aspects of cardiac involvement in sarcoidosis.
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Original Articles
  • Yoko Sato, Eiji Nakatani, Yasuhiro Watanabe, Masanori Fukushima, Kenji ...
    Volume 4 (2015) Issue 4 Pages 181-189
    Released: November 16, 2015
    JOURNALS FREE ACCESS
    Amyotrophic lateral sclerosis (ALS) is a motor neuron disease characterized by serious muscle atrophy and weakness. The purpose of this study was to find prognostic factors in patients with mild ALS using application forms for the Specified Disease Treatment Research Program in Japan. We classified ALS as mild, moderate and severe. The subjects consisted of 363 patients with mild ALS who underwent needle electromyography at registration and were followed for more than one year. Time to progression to severe ALS and time to deterioration of activities of daily living such as speech dysfunction, upper limb dysfunction, and walking disability were used as outcomes. Cox proportional hazards model analysis was performed to identify prognostic factors. Of the patients with initially mild ALS, 38.3% (139/363) had progressed severe ALS at the last follow-up. In multivariate analysis of time to progression to severe ALS, bulbar onset (hazard ratio [95% confidence interval]: 1.68 [1.13-2.49], p = 0.010), tongue atrophy (1.69 [1.14-2.51], p = 0.009), dyspnea (1.57 [1.02-2.41], p = 0.042) and active denervation findings (ADFs) of the cervical-upper limb area (1.81 [1.25-2.63], p = 0.002) emerged as prognostic factors. Furthermore ADFs in the trunk area were prognostic factors for upper limb dysfunction and walking disability (1.72 [1.05-2.81], p = 0.031, and 1.97 [1.09-3.59], p = 0.026). In conclusion ADFs of the cervical-upper limb area and trunk area were prognostic factors in ALS patients.
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  • Makoto Goto, Koichiro Hayata, Junji Chiba, Masaaki Matsuura, Sachiko I ...
    Volume 4 (2015) Issue 4 Pages 190-197
    Released: November 16, 2015
    JOURNALS FREE ACCESS
    We reported a minor inflammation-driven ageing (inflammageing) assessed by highly sensitive CRP (hsCRP) in normal individuals and patients with Werner syndrome (WS), followed by an ageing associated Th2-biased cytokine change in normal ageing in the previous papers. To further study the association of hsCRP and 26 cytokines/chemokines in 35 WS patients, a multiple cytokine array system was used in the same serum samples as were examined for hsCRP. The serum levels of Th2 cytokines (IL-4, IL-6, IL-10, and GM-CSF), Th1 products (IL-2, TNFα, IL-12, and IFNγ) and monocyte/macrophage products (MCP-1, basic FGF and G-CSF) in WS were significantly elevated compared with normal ageing. Elevated hsCRP level in WS was significantly correlated with IL-6, IL-12 and VEGF levels, if age and sex were taken into account. A pro-inflammatory cytokine/chemokine circuit-stimulated immunological shift to Th2 in WS was similar to normal ageing. These cytokine/chemokine changes may induce a systemic chronic inflammation monitored by hsCRP, though these immunological changes in WS were more complicated than normal ageing, possibly due to the WS-specific chronic inflammation such as skin ulcer, diabetes mellitus and central obesity with visceral fat deposition. Further study may warrant the pathophysiology of Th2 shift and Th2-biased inflammageing in normal ageing and WS.
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Case Reports
  • Jessica Famula, Kirin Basuta, Louise W. Gane, Randi J. Hagerman, Flora ...
    Volume 4 (2015) Issue 4 Pages 198-202
    Released: November 16, 2015
    [Advance publication] Released: October 16, 2015
    JOURNALS FREE ACCESS
    A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The screening study identified a case of a male with the full mutation completely methylated and no detectable expression of the fragile X mental retardation-1 (FMR1) gene. The patient was initially seen in clinic at the MIND Institute, for medical follow-up and a genetic counseling session at the chronological age of 3 months. Since then, he has been seen in clinic every six months for follow up, medical examination and developmental assessments. Longitudinally administered developmental testing of the infant has revealed persistent delays in development, consistent with fragile X syndrome. Cascade testing revealed that the patient's mother and two siblings also have the full mutation. The patient has been receiving speech and language therapy, combined with physical and occupational therapies on a weekly basis since the age of one year. He is currently being treated with 2.5 mg of sertraline, which has been demonstrated to be helpful for improving language in young children with the syndrome.
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  • Emrah Ermis, Selami Demirelli, Ali Fuat Korkmaz, Bingul Dilekci Sahin, ...
    Volume 4 (2015) Issue 4 Pages 203-206
    Released: November 16, 2015
    [Advance publication] Released: September 15, 2015
    JOURNALS FREE ACCESS
    The incidence of congenital artery anomalies is 0.2-1.4%, and most are benign. Single coronary artery (SCA) anomalies are very rare. The right coronary artery (RCA) originating from the left coronary system is one such SCA anomaly, and the risk of sudden cardiac death (SCD) increases if it courses between the pulmonary artery and aorta and coexists with other congenital heart diseases. Additionally, coursing of the RCA between the great vessels increases the risk of atherosclerosis. We herein present the case of a 57 yearold man who was admitted to our cardiology outpatient clinic and diagnosed with an SCA anomaly in which the RCA arose from the left main coronary artery (LMCA) and coursed between the pulmonary artery and aorta. However a critical stenosis was not detected in imaging techniques, and myocardial perfusion scintigraphic evidence of ischaemia was found in a small area. Therefore, he was managed with conservative medical therapy.
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  • Pinar Dogan, Enis Grbovic, Sinan Inci, Fatih Bayraktar, Kumral Cagli
    Volume 4 (2015) Issue 4 Pages 207-209
    Released: November 16, 2015
    [Advance publication] Released: October 16, 2015
    JOURNALS FREE ACCESS
    Azathioprine, a purine analogue that competitively inhibits the biosynthesis of purine nucleotides, is used in a wide range of conditions. Although its side-effects are well known, cardiac side effects like paroxysmal atrial fibrillation (AF) are based on only a few case reports. We describe here the case of a 55-year-old woman with primary biliary cirrhosis who presented a first-detected, symptomatic AF 2 h after azathioprine therapy which resolved after discontinuation of the drug with no predisposing factors for supraventricular arrhythmias (systemic hypertension, diabetes or coronary artery disease). The temporal coincidence of atrial fibrillation and azathioprine intake and disappearance of the AF episode after discontinuation of therapy allows us to suggest an intrinsic pro-arrhythmic effect of azathioprine. Therefore, physicians should be aware of this problem when this drug is administered.
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  • Mahesh Kumar Koonuru, Satya Prasad Venugopal
    Volume 4 (2015) Issue 4 Pages 210-213
    Released: November 16, 2015
    [Advance publication] Released: October 05, 2015
    JOURNALS FREE ACCESS
    Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age.
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Letter
  • Hristo P. Dobrev, Nina I. Vutova
    Volume 4 (2015) Issue 4 Pages 214-216
    Released: November 16, 2015
    JOURNALS FREE ACCESS
    Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapillaroscopy we observed pronounced alterations in finger nail capillaries including reduction in capillary density, features of neoangiogenesis (architectural derangement, elongated loops, extremely tortuous, bushy or branching capillaries, thin, branching and interconnected capillaries), enlarged and giant capillaries. We consider the changes observed as an adaptive mechanism that compensate the loss of capillaries due to chronic periungual trauma. Further studies with larger number of patients are needed to confirm the significance of capillaroscopy findings for patients with HEB.
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  • Hongzhou Lu
    Volume 4 (2015) Issue 4 Pages 217-219
    Released: November 16, 2015
    JOURNALS FREE ACCESS
    As one of the active participants in the global fight against the 2014 outbreak of Ebola virus disease (EVD) in West Africa, China supplied many resources, including medical experts and scientists as well as medical supplies, to the affected countries. A member of the first contingent of Chinese public health experts who worked in Sierra Leone for 65 days, I am pleased to have this opportunity to review the major work done by our team to help deal with the Ebola epidemic in Sierra Leone. This is the first time that a Chinese public health training team has worked in West Africa. The team provides trainings for people from local communities in an effort to encourage local residents to get involved in the war against Ebola. However, the implementation of active measures against Ebola in West Africa was hampered somewhat by certain drawbacks in the area in terms of the health system, the shortage of medical resources, the high illiteracy rate, unhealthy lifestyles, and traditional funeral rites. All of these aspects need to be gradually improved in the aftermath of Ebola, and I believe that this is an area in which the Chinese public health system can play an important role.
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