Intractable & Rare Diseases Research
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Volume 5 , Issue 2
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Reviews
  • Buraa Kubaisi, Khawla Abu Samra, C. Stephen Foster
    Volume 5 (2016) Issue 2 Pages 61-69
    Released: May 09, 2016
    [Advance publication] Released: March 19, 2016
    JOURNALS FREE ACCESS
    Granulomatosis with polyangiitis (GPA) is a potentially lethal systemic disorder that is characterized by necrotizing vasculitis of small arteries and veins. The respiratory system is most commonly affected in limited forms of the disease, however upper and lower respiratory system, systemic vasculitis, and necrotizing glomerulonephritis are the characteristic components of the disease triad. The peak incidence is observed at 64-75 years of age, with a prevalence of 8-10 per million depending on geographic location. In this review we focus on the ocular manifestations of the disease which occur in nearly in one third of the patients. In addition we describe the neuro-ophthalmic complications which occur in up to half of cases. We also discuss the current systemic treatment options including corticosteroids, cyclophosphamide, azathioprine, and the available biologic response modifiers including rituximab. The disease remains difficult to diagnose due to the generalized symptomatic presentation of patients with GPA. As a result, several sets of diagnostic criteria have been developed which include clinical, serological, and histopathological findings to varying extents. Early diagnosis and multi-specialty collaboration among physicians is necessary to adequately manage the disease and the potential complications that may result from drugs used in the treatment of the disease. Despite recent advances, more research is necessary to prevent the high rates of mortality from the disease itself and from therapeutic side effects.
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  • Abhinav Agrawal, Isha Verma, Varun Shah, Abhishek Agarwal, Rutuja R Si ...
    Volume 5 (2016) Issue 2 Pages 70-75
    Released: May 09, 2016
    [Advance publication] Released: April 25, 2016
    JOURNALS FREE ACCESS
    Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, parenchymal disease of the lung with an estimated prevalence of 14-43 per 100,000. Patient usually presents with coughing and exertional dyspnea, which can lead to acute respiratory failure. IPF has been associated with various co-morbidities such as lung cancer, emphysema, obstructive sleep apnea (OSA), GERD and multiple cardiovascular consequences. The cardiovascular manifestations of IPF include pulmonary hypertension, heart failure, coronary artery disease, cardiac arrhythmias & cardiac manifestations of drugs used to treat IPF. This review will outline evidence of the association between IPF and cardiovascular conditions and attempt to provide insights into the underlying pathophysiology. We also discuss the impact of these cardiovascular diseases on patients with IPF including increased morbidity and mortality.
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  • Jing Tian, Ziwei Li, Yang Han, Tao Jiang, Xiaoming Song, Guosheng Jian ...
    Volume 5 (2016) Issue 2 Pages 76-82
    Released: May 09, 2016
    [Advance publication] Released: April 11, 2016
    JOURNALS FREE ACCESS
    Early growth response gene-1 (EGR1) widely exists in the cell nucleus of such as, zebrafish, mice, chimpanzees and humans, and it also can be observed in the cytoplasm of some tumors. EGR1 was named just after its brief and rapid expression of different stimuli. Accumulating studies have extensively demonstrated that the widespread dysregulation of EGR1 is involved in hematological malignancies such as human acute myeloid leukemia (AML), chronic myelogenous leukemia, chronic lymphocytic leukemia, multiple myeloma, and B cell lymphoma. With the deep research on EGR1, its expression, function and regulatory mechanism has been gradually elucidated, and provides more possibilities for treatment strategies of patients with leukemia. Herein, we summarize the roles of EGR1 in its biological function and relationship with leukemia.
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  • Marie-Christine Rousseau, Karine Baumstarck, Thierry Billette de Ville ...
    Volume 5 (2016) Issue 2 Pages 83-89
    Released: May 09, 2016
    [Advance publication] Released: April 11, 2016
    JOURNALS FREE ACCESS
    Diverse conditions causing a very heavy and chronic motor disability, such as an advanced amyotrophic lateral, advanced form of multiple sclerosis, high spinal cord injury or a locked-in syndrom, are now getting better medical care and benefit of life support technology with consequent prolonged survival. Quality of life (QoL) assessment is being considered increasingly important to globally apprehend their general well-being. However, the motor disability that affects them appears as a substantial limitation for the assessment of their QoL and consequently a major challenge for all the community that carries an interest for them. This review discussed several avenues to provide to patients and caregivers, clinicians and researchers, and health decision making authority: i) elements to determine the most appropriate QoL measure with regard to the interest of patient's point of view, the QoL instruments suitable for this category of patients and their acceptability, ii) some arguments of the clinical relevance and accuracy of QoL assessment: interpretations of the questionnaires, QoL determinants, particularity of QoL evaluation for individuals with cognitive impairment and the caregivers perceptions of patients QoL. In conclusion, evaluation of QoL in patients with severe chronic motor handicap is a challenge of major interest, with major ethical issues. It needs to use adapted QoL scales and longitudinal following because of adaptive phenomena to the degree of handicap.
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  • Juan José González Plaza, Nataša Hulak, Galina Kausova, Zhaxybay Zhuma ...
    Volume 5 (2016) Issue 2 Pages 90-96
    Released: May 09, 2016
    [Advance publication] Released: April 25, 2016
    JOURNALS FREE ACCESS
    Viruses have been for long polemic biological particles which stand in the twilight of being living entities or not. As their genome is reduced, they rely on the metabolic machinery of their host in order to replicate and be able to continue with their infection process. The understanding of their metabolic requirements is thus of paramount importance in order to develop tailored drugs to control their population, without affecting the normal functioning of their host. New advancements in high throughput technologies, especially metabolomics are allowing researchers to uncover the metabolic mechanisms of viral replication. In this short review, we present the latest discoveries that have been made in the field and an overview of the intrinsic relationship between metabolism and innate immunity as an important part of the immune system.
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  • Juan José González Plaza, Nataša Hulak, Zhaxybay Zhumadilov, Ainur Aki ...
    Volume 5 (2016) Issue 2 Pages 97-102
    Released: May 09, 2016
    [Advance publication] Released: April 25, 2016
    JOURNALS FREE ACCESS
    Fever or pyrexia is a process where normal body temperature is raised over homeostasis conditions. Although many effects of fever over the immune system have been known for a long time, it has not been until recent studies when these effects have been evaluated in several infection processes. Results have been promising, as they have reported new ways of regulation, especially in RNA molecules. In light of these new studies, it seems important to start to evaluate the effects of pyrexia in current research efforts in host-pathogen interactions. Viruses and bacteria are responsible for different types of infectious diseases, and while it is of paramount importance to understand the mechanisms of infection, potential effects of fever on this process may have been overlooked. This is especially relevant because during the course of many infectious diseases the organism develops fever. Due to the lack of specific treatments for many of those afflictions, experimental evaluation in fever-like conditions can potentially bring new insights into the infection process and can ultimately help to develop treatments. The aim of this review is to present evidence that the temperature increase during fever affects the way the infection takes place, for both the pathogen and the host.
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Original Article
  • Makoto Goto, Junji Chiba, Masaaki Matsuura, Sachiko Iwaki-Egawa, Yasuh ...
    Volume 5 (2016) Issue 2 Pages 103-108
    Released: May 09, 2016
    [Advance publication] Released: May 02, 2016
    JOURNALS FREE ACCESS
    Age-associated minor inflammation: inflammageing may explain human ageing mechanism(s). Our previous study reported a significant increase in the serum level of highly sensitive C-reactive protein (hsCRP) with normal ageing and the patients with Werner syndrome (WS). To further study the minor inflammatory condition associated with ageing, another possible ageing biomarker: matrix metalloproteinase-9 (MMP9) was examined in the sera from 217 normal Japanese individuals aged between 1 and 100 years and 41 mutation-proven Japanese WS aged between 32 and 70 years. MMP9 was assayed by ELISA. The serum level of MMP9 was elevated significantly (p < 0.001) with normal ageing from both sexes as hsCRP. In contrast to normal ageing, the serum MMP9 level in WS decreased significantly with calendar age (p < 0.05). The MMP9 level (ng/mL) in WS (147.2 ± 28.5) was not significantly different in comparison with those from age-matched normal adult population aged between 25 and 70 years (109.1 ± 9.4), nor normal elderly population aged between 71 and 100 years (179.9 ± 16.1). Although both normal ageing and WS were associated with minor inflammation, the inflammatory parameters such as serum MMP9 and hsCRP changed differently between normal ageing and WS. The WS-specific chronic inflammation including skin ulcer and diabetes mellitus may contribute the different behavior of both ageing biomarkers from normal ageing.
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Brief Report
  • Basel Chamali, Helen Finnamore, Richard Manning, Michael A Laffan, Mar ...
    Volume 5 (2016) Issue 2 Pages 109-113
    Released: May 09, 2016
    [Advance publication] Released: April 18, 2016
    JOURNALS FREE ACCESS
    Understanding potential provocations of haemorrhage is important in a range of clinical settings, and particularly for people with abnormal vasculature. Patients with hereditary haemorrhagic telangiectasia (HHT) can report haemorrhage from nasal telangiectasia in real time, and suggested dietary factors may precipitate nosebleeds. To examine further, nosebleed severity, dietary supplement use, and blood indices were evaluated in an unselected group of 50 HHT patients recruited from a specialist UK service. Using the validated Epistaxis Severity Score, nosebleed severity ranged from 0 to 9.1 out of 10 (median 3.9). Using a Food Frequency Questionnaire, 24/50 (48%) participants reported use of dietary supplements in the previous year. A third (18/50; 36%) had used self prescribed, non-iron containing dietary supplements, ingesting between 1 and 3 different supplements each day. Eight (16%) used fish oils. Despite having more severe epistaxis (p = 0.012), the 12 iron supplement users had higher serum iron concentrations, and were able to maintain their red blood cell indices. In contrast, there was no evident benefit for the participants using non iron supplements. Furthermore, platelet counts and serum fibrinogen tended to be lower in fish oil/supplement users, and one fish oil user demonstrated reduced in vitro platelet aggregation. In conclusion, in this small study, a third of HHT patients used non-iron dietary supplements, and one in six ingested fish oils, unaware of their known anti-platelet activity. The scale of use, and potential of these "natural health supplements" to exacerbate nosebleeds has not been appreciated previously in HHT.
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Case Reports
  • Hikmet Hamur, Oruc Alper Onk, Husnu Degirmenci, Umit Kahraman, Eftal M ...
    Volume 5 (2016) Issue 2 Pages 114-116
    Released: May 09, 2016
    [Advance publication] Released: April 18, 2016
    JOURNALS FREE ACCESS
    Percutaneous atrial septal defect (ASD) closure has become an increasingly simplified procedure over the past decade. The device embolization is seen rarely but it can be fatal. Although percutaneous retrieval is feasible, surgical removal might be preferred when the endothelialization status of the device is unknown. We report a comlication of such closure in a 43-year-old woman: embolization of the ASD occluder device into aortic arch 12 months after implantation. We removed the device surgically and closed the ASD.
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  • Kusum Bharti, Mridula Goswami
    Volume 5 (2016) Issue 2 Pages 117-120
    Released: May 09, 2016
    [Advance publication] Released: May 02, 2016
    JOURNALS FREE ACCESS
    Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia. The early diagnosis of the condition helps in proper orientation of the treatment thereby offering better quality of life to such patients.
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  • Yesim Coskun, Ipek Akman, Mustafa Kemal Demir, Ozlem Yapicier, Salih S ...
    Volume 5 (2016) Issue 2 Pages 121-123
    Released: May 09, 2016
    [Advance publication] Released: April 25, 2016
    JOURNALS FREE ACCESS
    Split notochord syndrome (SNS) is a very rare congenital anomaly. This report describes a male newborn with a neuroenteric cyst in the posterior mediastinum and multiple vertebrae anomalies presenting with respiratory failure and pulmonary hypertension. This report also discusses the embryological development and the etiologic theories of SNS.
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  • Sahar Ahmed Fathi Hammoudah, Lama Mohammed El-Attar
    Volume 5 (2016) Issue 2 Pages 124-128
    Released: May 09, 2016
    [Advance publication] Released: March 22, 2016
    JOURNALS FREE ACCESS
    Infantile systemic hyalinosis (ISH) (OMIM 228600) is a rare fatal autosomal recessive disorder characterized by extensive deposition of hyaline material in many tissues. Consanguinity has been recorded in many cases. Herein we present two new Saudi cases with review of the literature. Our first proband was a 9 month-old male who was the first baby for parents descended from a closed consanguineous pedigree. The second proband was a 13 month-old male who was the first baby for consanguineous parents (3rd C). Both cases presented with bilateral painful limited limb movement with joints contractures, low birth weight (< P5), severe generalized stiff skin, hyper-pigmented skin over bony prominences, fleshy perianal masses and gingival hypertrophy. The first child died at 18th month as a result of recurrent chest infections. The second proband showed a severe progressive course of joint contractures, and died at 19th month because of failure to thrive and recurrent infections. Although the clinical features of ISH are characteristic, the disease is under/miss diagnosed. The role of consanguinity needed to be highlighted to the community. Careful clinical examination and molecular diagnosis will be helpful for genetic counseling, prenatal diagnosis and early treatment.
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  • Apurva Mishra, Ramesh Kumar Pandey
    Volume 5 (2016) Issue 2 Pages 129-132
    Released: May 09, 2016
    [Advance publication] Released: April 25, 2016
    JOURNALS FREE ACCESS
    A fibro-epithelial polyp is the most common epithelial benign tumor of the oral cavity. Such a polyp is of mesodermal origin and it is a pink, red, or white knob-like painless growth that is sessile or pedunculated. A fibro-epithelial polyp commonly occurs on buccal mucosa, the tongue, or the gingiva. A fibro-epithelial polyp is an inflammatory hyperplastic lesion in response to chronic irritation due to calculus, sharp tooth edges, irregular denture borders, or overhanging restorations. Such a polyp rarely occurs before the fourth decade of life and its prevalence is not sex-specific. The current paper presents two cases where an intraoral fibro-epithelial polyp was successfully managed in children. Conservative surgical excision was performed in both cases. A follow-up at 3 months revealed uneventful healing of the site without reoccurrence of the lesion.
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  • Darshan K. Bajaj, Ajay K. Verma, Riddhi Jaiswal, Surya Kant, Anand Pat ...
    Volume 5 (2016) Issue 2 Pages 133-136
    Released: May 09, 2016
    [Advance publication] Released: March 10, 2016
    JOURNALS FREE ACCESS
    Tuberculosis is notorious that it affects various sites of the human body and presents in different ways. One of the uncommon or rather rare presentation of extra pulmonary tuberculosis is nasal tuberculosis. The nose apart from its physiological functions also contributes to facial aesthetics and gives a defined appearance and its deformity imparts cosmetic disfigurement and unsightly appearance. Both primary and secondary forms of nasal tuberculosis are rare but should be considered in the differential diagnosis of ulcerative or crusting lesions of the nose. Here we report such a case of nasal tuberculosis, which presented as an ulcerative and crusting lesion over the tip of the nose in a female child. The patient was given antituberculous chemotherapy after establishing the diagnosis and responded well to treatment.
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Commentary
  • Paolo Chieffi
    Volume 5 (2016) Issue 2 Pages 137-139
    Released: May 09, 2016
    [Advance publication] Released: March 10, 2016
    JOURNALS FREE ACCESS
    Testicular germ cell tumors (TGCTs) are the most frequent solid malignant tumors in men 20-40 years of age and the most frequent cause of death from solid tumors in this age group. TGCTs comprise two major histologic groups: seminomas and non-seminomas germ cell tumors (NSGCTs). NSGCTs can be further divided into embryonal carcinoma, Teratoma, yolk sac tumor, and choriocarcinoma. Seminomas and NSGCTs present significant differences in clinical features, therapy, and prognosis, and both show characteristics of the Primordial Germ Cells (PGCs). Many discovered biomarkers including HMGA1, GPR30, Aurora-B, estrogen receptor β, and others have given further advantages to discriminate between histological subgroups and could represent useful therapeutic targets.
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